Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C332 |
Reference Plasmid |
NC_017958.1 |
Reference Plasmid Size |
1126962 |
Reference Plasmid GC Content |
0.68 |
Reference Plasmid Mobility Type |
conjugative |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0084690 |
LGPGPKHL_00072 |
67942 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Ile198Val |
M0084691 |
LGPGPKHL_00078 |
73128 |
31 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
22C>T |
Arg8Cys |
M0084692 |
LGPGPKHL_00085 |
81933 |
32 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3491C>T |
None |
M0084693 |
LGPGPKHL_00086 |
83890 |
29 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2493T>C |
None |
M0084694 |
LGPGPKHL_00089 |
85890 |
26 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
424C>A |
Gln142Lys |
M0084695 |
LGPGPKHL_00062 |
59852 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1995C>T |
Asp665Asp |
M0084696 |
LGPGPKHL_00062 |
59872 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1975T>C |
Leu659Leu |
M0084697 |
LGPGPKHL_00062 |
60278 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1569C>G |
Ala523Ala |
M0084698 |
LGPGPKHL_00062 |
60410 |
41 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1437A>G |
Pro479Pro |
M0084699 |
LGPGPKHL_00062 |
60536 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311G>C |
Val437Val |
M0084700 |
LGPGPKHL_00062 |
60623 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1224G>T |
Pro408Pro |
M0084701 |
LGPGPKHL_00062 |
60626 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1221T>G |
Leu407Leu |
M0084702 |
LGPGPKHL_00062 |
60644 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1203C>T |
His401His |
M0084703 |
LGPGPKHL_00062 |
60646 |
15 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1201C>T |
His401Tyr |
M0084704 |
LGPGPKHL_00062 |
60647 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1200T>C |
Phe400Phe |
M0084705 |
LGPGPKHL_00062 |
60650 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1197T>G |
Leu399Leu |
M0084706 |
LGPGPKHL_00062 |
60653 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1194T>C |
Asp398Asp |
M0084707 |
LGPGPKHL_00062 |
60656 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Asp397Asp |
M0084708 |
LGPGPKHL_00062 |
60659 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1188T>G |
Gly396Gly |
M0084709 |
LGPGPKHL_00062 |
60662 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1185C>T |
Tyr395Tyr |
M0084710 |
LGPGPKHL_00056 |
55672 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Arg215Arg |
M0084711 |
LGPGPKHL_00056 |
55906 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Glu137Glu |
M0084712 |
LGPGPKHL_00062 |
60377 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1470C>T |
Gly490Gly |
M0084713 |
LGPGPKHL_00062 |
60398 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1449C>T |
Phe483Phe |
M0084714 |
LGPGPKHL_00062 |
60427 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1420T>C |
Leu474Leu |
M0084715 |
LGPGPKHL_00062 |
60428 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1419C>G |
Val473Val |
M0084716 |
LGPGPKHL_00062 |
60443 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1404C>T |
Phe468Phe |
M0084717 |
LGPGPKHL_00062 |
60446 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1401C>G |
Gly467Gly |
M0084718 |
LGPGPKHL_00062 |
60676 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1171C>T |
Leu391Leu |
M0084719 |
LGPGPKHL_00062 |
60683 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1164T>C |
Thr388Thr |
M0084720 |
LGPGPKHL_00062 |
60767 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1080G>A |
Ala360Ala |
M0084721 |
LGPGPKHL_00062 |
60770 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1077A>G |
Glu359Glu |
M0084722 |
LGPGPKHL_00062 |
60776 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1071T>C |
Ala357Ala |
M0084723 |
LGPGPKHL_00062 |
60797 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1050T>C |
Gly350Gly |
M0084724 |
LGPGPKHL_00062 |
60808 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1039T>C |
Leu347Leu |
M0084725 |
LGPGPKHL_00062 |
60812 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1035G>C |
Arg345Ser |
M0084726 |
LGPGPKHL_00062 |
60814 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1033A>C |
Arg345Arg |
M0084727 |
LGPGPKHL_00062 |
60815 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1032G>A |
Lys344Lys |
M0084728 |
LGPGPKHL_00062 |
60827 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1020G>C |
Ser340Ser |
M0084729 |
LGPGPKHL_00062 |
60830 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1017C>G |
Pro339Pro |
M0084730 |
LGPGPKHL_00062 |
60833 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1014A>G |
Gln338Gln |
M0084731 |
LGPGPKHL_00062 |
60839 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1008T>C |
Gly336Gly |
M0084732 |
LGPGPKHL_00062 |
60896 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
951A>G |
Gln317Gln |
M0084733 |
LGPGPKHL_00062 |
60950 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
His299His |
M0084734 |
LGPGPKHL_00062 |
60965 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
882G>C |
Leu294Leu |
M0084735 |
LGPGPKHL_00062 |
60974 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
873C>G |
Ala291Ala |
M0084736 |
LGPGPKHL_00062 |
60983 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
864C>G |
Gly288Gly |
M0084737 |
LGPGPKHL_00062 |
60998 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Gln283Gln |
M0084738 |
LGPGPKHL_00062 |
61016 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Thr277Thr |
M0084739 |
LGPGPKHL_00062 |
61022 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825A>G |
Glu275Glu |
M0084740 |
LGPGPKHL_00062 |
61025 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
822G>A |
Gly274Gly |
M0084741 |
LGPGPKHL_00062 |
61037 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
810C>A |
Ile270Ile |
M0084742 |
LGPGPKHL_00062 |
61046 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Leu267Leu |
M0084743 |
LGPGPKHL_00062 |
61048 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
799C>T |
Leu267Leu |
M0084744 |
LGPGPKHL_00062 |
61058 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789C>G |
Val263Val |
M0084745 |
LGPGPKHL_00062 |
61088 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
759C>T |
Ser253Ser |
M0084746 |
LGPGPKHL_00062 |
61106 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Thr247Thr |
M0084747 |
LGPGPKHL_00062 |
61121 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Ala242Ala |
M0084748 |
LGPGPKHL_00062 |
61127 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
720T>C |
His240His |
M0084749 |
LGPGPKHL_00062 |
61132 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
715A>G |
Ser239Gly |
M0084750 |
LGPGPKHL_00062 |
61146 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
701A>G |
Tyr234Cys |
M0084751 |
LGPGPKHL_00062 |
61159 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
688G>C |
Glu230Gln |
M0084752 |
LGPGPKHL_00062 |
61168 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
679G>A |
Val227Ile |
M0084753 |
LGPGPKHL_00062 |
61254 |
11 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
593A>C |
Gln198Pro |
M0084754 |
LGPGPKHL_00062 |
61255 |
11 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
592C>A |
Gln198Lys |
M0084755 |
LGPGPKHL_00062 |
61265 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Pro194Pro |
M0084756 |
LGPGPKHL_00062 |
61277 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Phe190Phe |
M0084757 |
LGPGPKHL_00062 |
61280 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Gly189Gly |
M0084758 |
LGPGPKHL_00062 |
61349 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
498T>C |
Arg166Arg |
M0084759 |
LGPGPKHL_00062 |
61360 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
487C>A |
Leu163Ile |
M0084760 |
LGPGPKHL_00062 |
61385 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Asn154Asn |
M0084761 |
LGPGPKHL_00062 |
61391 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Val152Val |
M0084762 |
LGPGPKHL_00062 |
61397 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450A>G |
Val150Val |
M0084763 |
LGPGPKHL_00062 |
61406 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Gly147Gly |
M0084764 |
LGPGPKHL_00062 |
61430 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
417G>C |
Arg139Arg |
M0084765 |
LGPGPKHL_00062 |
61450 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
397T>C |
Leu133Leu |
M0084766 |
LGPGPKHL_00062 |
61454 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
393G>C |
Pro131Pro |
M0084767 |
LGPGPKHL_00062 |
61457 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Pro130Pro |
M0084768 |
LGPGPKHL_00062 |
61466 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
381C>G |
Val127Val |
M0084769 |
LGPGPKHL_00062 |
61481 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Tyr122Tyr |
M0084770 |
LGPGPKHL_00062 |
61510 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
337G>A |
Ala113Thr |
M0084771 |
LGPGPKHL_00062 |
61514 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Ile111Ile |
M0084772 |
LGPGPKHL_00062 |
61520 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Val109Val |
M0084773 |
LGPGPKHL_00062 |
61532 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Gly105Gly |
M0084774 |
LGPGPKHL_00062 |
61535 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Cys104Cys |
M0084775 |
LGPGPKHL_00062 |
61562 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ala95Ala |
M0084776 |
LGPGPKHL_00062 |
61565 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Arg94Arg |
M0084777 |
LGPGPKHL_00062 |
61622 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Pro75Pro |
M0084778 |
LGPGPKHL_00062 |
61637 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Lys70Lys |
M0084779 |
LGPGPKHL_00062 |
61652 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
195C>G |
Ile65Met |
M0084780 |
LGPGPKHL_00062 |
61654 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
193A>G |
Ile65Val |
M0084781 |
LGPGPKHL_00062 |
61655 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192C>G |
Leu64Leu |
M0084782 |
LGPGPKHL_00062 |
61658 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Gln63Gln |
M0084783 |
LGPGPKHL_00062 |
61691 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
156T>G |
Pro52Pro |
M0084784 |
LGPGPKHL_00062 |
61697 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Asn50Asn |
M0084785 |
LGPGPKHL_00062 |
61700 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ala49Ala |
M0084786 |
LGPGPKHL_00062 |
61721 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Leu42Leu |
M0084787 |
LGPGPKHL_00062 |
61745 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Phe34Phe |
M0084788 |
LGPGPKHL_00062 |
61775 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72A>T |
Ser24Ser |
M0084789 |
LGPGPKHL_00062 |
61813 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34G>T |
Ala12Ser |
M0084790 |
LGPGPKHL_00062 |
61814 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
33C>A |
Asp11Glu |
M0084791 |
LGPGPKHL_00062 |
61840 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
7T>C |
Phe3Leu |
M0084792 |
LGPGPKHL_00057 |
61847 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4978A>C |
None |
M0084793 |
LGPGPKHL_00057 |
61860 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4991A>T |
None |
M0084794 |
LGPGPKHL_00058 |
61918 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4483C>T |
None |
M0084795 |
LGPGPKHL_00058 |
61919 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4484T>C |
None |
M0084796 |
LGPGPKHL_00058 |
61925 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4490C>T |
None |
M0084797 |
LGPGPKHL_00058 |
61930 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4495G>A |
None |
M0084798 |
LGPGPKHL_00058 |
61934 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4499G>A |
None |
M0084799 |
LGPGPKHL_00058 |
61937 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4502T>C |
None |
M0084800 |
LGPGPKHL_00058 |
61949 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4514T>C |
None |
M0084801 |
LGPGPKHL_00058 |
61960 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4525T>C |
None |
M0084802 |
LGPGPKHL_00058 |
61962 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4527A>G |
None |
M0084803 |
LGPGPKHL_00058 |
61967 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4532A>G |
None |
M0084804 |
LGPGPKHL_00058 |
61970 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4535C>T |
None |
M0084805 |
LGPGPKHL_00027 |
33388 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3581G>C |
None |
M0084806 |
LGPGPKHL_00078 |
73038 |
27 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Ser38Gly |
M0084807 |
LGPGPKHL_00082 |
75111 |
15 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
171T>G |
Ile57Met |
M0084808 |
LGPGPKHL_00082 |
75113 |
15 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Ile57Val |
M0084809 |
LGPGPKHL_00082 |
75129 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Asp51Asp |
M0084810 |
LGPGPKHL_00082 |
75139 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
143A>C |
Asp48Ala |
M0084811 |
LGPGPKHL_00082 |
75162 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Gly40Gly |
M0084812 |
LGPGPKHL_00082 |
75180 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Val34Val |
M0084813 |
LGPGPKHL_00082 |
75201 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Asp27Asp |
M0084814 |
LGPGPKHL_00082 |
75204 |
16 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
78C>A |
Asp26Glu |
M0084815 |
LGPGPKHL_00084 |
76349 |
23 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
373G>C |
Val125Leu |
M0084816 |
LGPGPKHL_00084 |
76352 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
370T>C |
Leu124Leu |
M0084817 |
LGPGPKHL_00084 |
76356 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Asp122Asp |
M0084818 |
LGPGPKHL_00084 |
76365 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
357C>G |
Val119Val |
M0084819 |
LGPGPKHL_00084 |
76370 |
23 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
352A>C |
Lys118Gln |
M0084820 |
LGPGPKHL_00084 |
76374 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Arg116Arg |
M0084821 |
LGPGPKHL_00076 |
76766 |
26 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4296G>T |
None |
M0084822 |
LGPGPKHL_00076 |
76954 |
29 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4484C>T |
None |
M0084823 |
LGPGPKHL_00089 |
86001 |
20 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
313G>C |
Glu105Gln |
M0084824 |
LGPGPKHL_00089 |
86290 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Lys8Lys |
M0084825 |
LGPGPKHL_00057 |
56393 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
477C>A |
Gly159Gly |
M0084826 |
LGPGPKHL_00057 |
56399 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Val157Val |
M0084827 |
LGPGPKHL_00091 |
87602 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
37C>G |
Arg13Gly |
M0084828 |
LGPGPKHL_00091 |
87615 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
24G>T |
Pro8Pro |
M0084829 |
LGPGPKHL_00092 |
87642 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
785C>A |
Pro262Gln |
M0084830 |
LGPGPKHL_00092 |
87658 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Ala257Thr |
M0084831 |
LGPGPKHL_00092 |
87669 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
758A>G |
Lys253Arg |
M0084832 |
LGPGPKHL_00092 |
87682 |
15 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
745T>C |
Ser249Pro |
M0084833 |
LGPGPKHL_00092 |
87694 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
733G>A |
Ala245Thr |
M0084834 |
LGPGPKHL_00092 |
87705 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
722C>G |
Thr241Ser |
M0084835 |
LGPGPKHL_00092 |
87712 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
715T>C |
Ser239Pro |
M0084836 |
LGPGPKHL_00092 |
87736 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
691G>A |
Gly231Ser |
M0084837 |
LGPGPKHL_00092 |
87737 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Arg230Arg |
M0084838 |
LGPGPKHL_00092 |
87749 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Gly226Gly |
M0084839 |
LGPGPKHL_00092 |
87752 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Arg225Arg |
M0084840 |
LGPGPKHL_00007 |
12742 |
11 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4947T>C |
None |
M0084841 |
LGPGPKHL_00007 |
12744 |
11 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4949T>A |
None |
M0084842 |
LGPGPKHL_00012 |
12795 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Arg312Arg |
M0084843 |
LGPGPKHL_00012 |
12801 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Gly310Gly |
M0084844 |
LGPGPKHL_00012 |
12825 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
906A>C |
Thr302Thr |
M0084845 |
LGPGPKHL_00012 |
12861 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Tyr290Tyr |
M0084846 |
LGPGPKHL_00012 |
12923 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
808T>C |
Leu270Leu |
M0084847 |
LGPGPKHL_00012 |
12963 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Phe256Phe |
M0084848 |
LGPGPKHL_00012 |
12972 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Glu253Glu |
M0084849 |
LGPGPKHL_00012 |
12978 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Arg251Arg |
M0084850 |
LGPGPKHL_00012 |
13050 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Gly227Gly |
M0084851 |
LGPGPKHL_00012 |
13293 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
438T>G |
Ala146Ala |
M0084852 |
LGPGPKHL_00012 |
13317 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Asp138Asp |
M0084853 |
LGPGPKHL_00012 |
13323 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
408G>A |
Gly136Gly |
M0084854 |
LGPGPKHL_00012 |
13350 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Thr127Thr |
M0084855 |
LGPGPKHL_00012 |
13368 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Phe121Phe |
M0084856 |
LGPGPKHL_00013 |
14164 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1494A>C |
Arg498Arg |
M0084857 |
LGPGPKHL_00013 |
14302 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1356G>T |
Ala452Ala |
M0084858 |
LGPGPKHL_00013 |
14431 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1227C>G |
Gly409Gly |
M0084859 |
LGPGPKHL_00013 |
14434 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1224G>C |
Thr408Thr |
M0084860 |
LGPGPKHL_00013 |
14440 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1218C>G |
Gly406Gly |
M0084861 |
LGPGPKHL_00013 |
14443 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1215G>C |
Thr405Thr |
M0084862 |
LGPGPKHL_00013 |
14467 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1191G>A |
Gln397Gln |
M0084863 |
LGPGPKHL_00013 |
14593 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1065G>T |
Arg355Arg |
M0084864 |
LGPGPKHL_00013 |
14704 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
954C>G |
Thr318Thr |
M0084865 |
LGPGPKHL_00013 |
14821 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
837G>T |
Gly279Gly |
M0084866 |
LGPGPKHL_00013 |
14835 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
823T>C |
Leu275Leu |
M0084867 |
LGPGPKHL_00013 |
14893 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Ser255Ser |
M0084868 |
LGPGPKHL_00013 |
15116 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
542G>A |
Arg181His |
M0084869 |
LGPGPKHL_00013 |
15262 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
396A>T |
Lys132Asn |
M0084870 |
LGPGPKHL_00013 |
15271 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ile129Ile |
M0084871 |
LGPGPKHL_00013 |
15322 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Ile112Ile |
M0084872 |
LGPGPKHL_00013 |
15352 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Val102Val |
M0084873 |
LGPGPKHL_00013 |
15490 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Lys56Lys |
M0084874 |
LGPGPKHL_00013 |
15493 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Leu55Leu |
M0084875 |
LGPGPKHL_00013 |
15624 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34C>A |
Pro12Thr |
M0084876 |
LGPGPKHL_00010 |
15766 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3904G>A |
None |
M0084877 |
LGPGPKHL_00010 |
15777 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3915A>G |
None |
M0084878 |
LGPGPKHL_00010 |
15882 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020A>G |
None |
M0084879 |
LGPGPKHL_00010 |
15889 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4027G>A |
None |
M0084880 |
LGPGPKHL_00040 |
41701 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1209A>G |
Gln403Gln |
M0084881 |
LGPGPKHL_00040 |
41765 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1145G>A |
Gly382Asp |
M0084882 |
LGPGPKHL_00040 |
41767 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1143T>C |
Ser381Ser |
M0084883 |
LGPGPKHL_00040 |
41788 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1122T>C |
Gly374Gly |
M0084884 |
LGPGPKHL_00040 |
41809 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1101A>G |
Leu367Leu |
M0084885 |
LGPGPKHL_00040 |
41830 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1080A>G |
Gln360Gln |
M0084886 |
LGPGPKHL_00040 |
41866 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1044T>C |
Pro348Pro |
M0084887 |
LGPGPKHL_00040 |
41869 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Ile347Ile |
M0084888 |
LGPGPKHL_00040 |
41878 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1032C>G |
Pro344Pro |
M0084889 |
LGPGPKHL_00040 |
41881 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Asp343Asp |
M0084890 |
LGPGPKHL_00040 |
41908 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1002G>A |
Gln334Gln |
M0084891 |
LGPGPKHL_00040 |
41911 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Gln333Gln |
M0084892 |
LGPGPKHL_00040 |
42109 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Val267Val |
M0084893 |
LGPGPKHL_00040 |
42166 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
744C>G |
Ala248Ala |
M0084894 |
LGPGPKHL_00040 |
42169 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
741G>C |
Thr247Thr |
M0084895 |
LGPGPKHL_00040 |
42175 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
735G>C |
Ala245Ala |
M0084896 |
LGPGPKHL_00040 |
42178 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
732G>C |
Val244Val |
M0084897 |
LGPGPKHL_00040 |
42184 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
726A>T |
Gly242Gly |
M0084898 |
LGPGPKHL_00040 |
42190 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
720A>C |
Leu240Leu |
M0084899 |
LGPGPKHL_00040 |
42196 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
714G>C |
Ser238Ser |
M0084900 |
LGPGPKHL_00040 |
42230 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
680A>G |
Asn227Ser |
M0084901 |
LGPGPKHL_00040 |
42241 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Ala223Ala |
M0084902 |
LGPGPKHL_00040 |
42243 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
667G>T |
Ala223Ser |
M0084903 |
LGPGPKHL_00040 |
42274 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
636T>G |
Ala212Ala |
M0084904 |
LGPGPKHL_00040 |
42328 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582C>A |
Gly194Gly |
M0084905 |
LGPGPKHL_00040 |
42346 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564G>T |
Gly188Gly |
M0084906 |
LGPGPKHL_00040 |
42349 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Gly187Gly |
M0084907 |
LGPGPKHL_00040 |
42819 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
91G>A |
Gly31Ser |
M0084908 |
LGPGPKHL_00040 |
42848 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
62C>T |
Ala21Val |
M0084909 |
LGPGPKHL_00041 |
43015 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
796C>G |
Arg266Gly |
M0084910 |
LGPGPKHL_00041 |
43028 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
783G>C |
Leu261Leu |
M0084911 |
LGPGPKHL_00041 |
43031 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
780G>C |
Val260Val |
M0084912 |
LGPGPKHL_00041 |
43048 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
763A>C |
Thr255Pro |
M0084913 |
LGPGPKHL_00041 |
43151 |
20 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Leu220Leu |
M0084914 |
LGPGPKHL_00041 |
43200 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
611T>C |
Val204Ala |
M0084915 |
LGPGPKHL_00041 |
43203 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
608C>T |
Ala203Val |
M0084916 |
LGPGPKHL_00041 |
43256 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
555T>G |
Leu185Leu |
M0084917 |
LGPGPKHL_00041 |
43586 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Arg75Arg |
M0084918 |
LGPGPKHL_00041 |
43604 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Gly69Gly |
M0084919 |
LGPGPKHL_00041 |
43630 |
23 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
181A>G |
Lys61Glu |
M0084920 |
LGPGPKHL_00041 |
43640 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Ala57Ala |
M0084921 |
LGPGPKHL_00041 |
43676 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Val45Val |
M0084922 |
LGPGPKHL_00042 |
44134 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Arg122Arg |
M0084923 |
LGPGPKHL_00042 |
44137 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Leu121Leu |
M0084924 |
LGPGPKHL_00042 |
44146 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Thr118Thr |
M0084925 |
LGPGPKHL_00042 |
44164 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Tyr112Tyr |
M0084926 |
LGPGPKHL_00042 |
44173 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
327G>C |
Arg109Arg |
M0084927 |
LGPGPKHL_00042 |
44176 |
20 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324G>T |
Leu108Leu |
M0084928 |
LGPGPKHL_00042 |
44218 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
His94His |
M0084929 |
LGPGPKHL_00066 |
64427 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144A>T |
Ala48Ala |
M0084930 |
LGPGPKHL_00066 |
64430 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Leu47Leu |
M0084931 |
LGPGPKHL_00066 |
64454 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
117G>C |
Arg39Arg |
M0084932 |
LGPGPKHL_00067 |
64665 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Gln81Gln |
M0084933 |
LGPGPKHL_00067 |
64666 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
242A>G |
Gln81Arg |
M0084934 |
LGPGPKHL_00067 |
64677 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Asn77Asn |
M0084935 |
LGPGPKHL_00067 |
64857 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
51C>A |
Asp17Glu |
M0084936 |
LGPGPKHL_00069 |
65753 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
24A>C |
Ile8Ile |
M0084937 |
LGPGPKHL_00070 |
66038 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
523C>G |
Pro175Ala |
M0084938 |
LGPGPKHL_00070 |
66050 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
511C>G |
Gln171Glu |
M0084939 |
LGPGPKHL_00070 |
66069 |
24 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ala164Ala |
M0084940 |
LGPGPKHL_00070 |
66073 |
24 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
488A>C |
Glu163Ala |
M0084941 |
LGPGPKHL_00070 |
66074 |
24 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
487G>A |
Glu163Lys |
M0084942 |
LGPGPKHL_00070 |
66081 |
24 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Pro160Pro |
M0084943 |
LGPGPKHL_00070 |
66084 |
24 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Pro159Pro |
M0084944 |
LGPGPKHL_00070 |
66099 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Phe154Phe |
M0084945 |
LGPGPKHL_00070 |
66119 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
442A>C |
Met148Leu |
M0084946 |
LGPGPKHL_00071 |
66793 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
690C>A |
Leu230Leu |
M0084947 |
LGPGPKHL_00071 |
66856 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Pro209Pro |
M0084948 |
LGPGPKHL_00071 |
66859 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
624A>C |
Ala208Ala |
M0084949 |
LGPGPKHL_00071 |
66873 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
610T>A |
Cys204Ser |
M0084950 |
LGPGPKHL_00071 |
66877 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Thr202Thr |
M0084951 |
LGPGPKHL_00071 |
66898 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Pro195Pro |
M0084952 |
LGPGPKHL_00071 |
66925 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Ser186Ser |
M0084953 |
LGPGPKHL_00071 |
66931 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Ala184Ala |
M0084954 |
LGPGPKHL_00071 |
67009 |
30 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
474C>A |
Asp158Glu |
M0084955 |
LGPGPKHL_00071 |
67046 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
437T>C |
Val146Ala |
M0084956 |
LGPGPKHL_00071 |
67078 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
405C>A |
Ala135Ala |
M0084957 |
LGPGPKHL_00039 |
41327 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
184T>C |
Leu62Leu |
M0084958 |
LGPGPKHL_00039 |
41417 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
94T>C |
Leu32Leu |
M0084959 |
LGPGPKHL_00040 |
41572 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1338G>A |
Lys446Lys |
M0084960 |
LGPGPKHL_00040 |
41590 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1320T>C |
Val440Val |
M0084961 |
LGPGPKHL_00040 |
41605 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1305A>G |
Gln435Gln |
M0084962 |
LGPGPKHL_00040 |
41608 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1302C>G |
Val434Val |
M0084963 |
LGPGPKHL_00040 |
41626 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1284C>G |
Ala428Ala |
M0084964 |
LGPGPKHL_00040 |
41629 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1281A>G |
Gln427Gln |
M0084965 |
LGPGPKHL_00040 |
41956 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Ile318Ile |
M0084966 |
LGPGPKHL_00042 |
43841 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
659A>C |
Asn220Thr |
M0084967 |
LGPGPKHL_00042 |
43842 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
658A>T |
Asn220Tyr |
M0084968 |
LGPGPKHL_00042 |
43847 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
653A>G |
Asp218Gly |
M0084969 |
LGPGPKHL_00042 |
43854 |
20 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
646C>T |
Pro216Ser |
M0084970 |
LGPGPKHL_00046 |
45611 |
24 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Ser95Ser |
M0084971 |
LGPGPKHL_00046 |
45626 |
23 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Phe90Phe |
M0084972 |
LGPGPKHL_00046 |
45644 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252G>T |
Val84Val |
M0084973 |
LGPGPKHL_00046 |
45671 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Pro75Pro |
M0084974 |
LGPGPKHL_00046 |
45677 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Asp73Asp |
M0084975 |
LGPGPKHL_00046 |
45740 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
156A>G |
Glu52Glu |
M0084976 |
LGPGPKHL_00046 |
45764 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Ala44Ala |
M0084977 |
LGPGPKHL_00046 |
45775 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
121T>C |
Leu41Leu |
M0084978 |
LGPGPKHL_00046 |
45788 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Ala36Ala |
M0084979 |
LGPGPKHL_00046 |
45794 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Ser34Ser |
M0084980 |
LGPGPKHL_00046 |
45806 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
90A>C |
Ala30Ala |
M0084981 |
LGPGPKHL_00046 |
45813 |
30 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
83C>A |
Pro28Gln |
M0084982 |
LGPGPKHL_00046 |
45821 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Gly25Gly |
M0084983 |
LGPGPKHL_00046 |
45829 |
30 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
67G>C |
Val23Leu |
M0084984 |
LGPGPKHL_00046 |
45844 |
30 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
52T>C |
Phe18Leu |
M0084985 |
LGPGPKHL_00046 |
45846 |
31 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
50G>T |
Cys17Phe |
M0084986 |
LGPGPKHL_00038 |
45925 |
30 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4864A>C |
None |
M0084987 |
LGPGPKHL_00038 |
45950 |
33 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4889G>A |
None |
M0084988 |
LGPGPKHL_00038 |
45994 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4933C>T |
None |
M0084989 |
LGPGPKHL_00038 |
45996 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935A>G |
None |
M0084990 |
LGPGPKHL_00038 |
46017 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4956T>G |
None |
M0084991 |
LGPGPKHL_00038 |
46023 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4962G>C |
None |
M0084992 |
LGPGPKHL_00038 |
46025 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4964G>T |
None |
M0084993 |
LGPGPKHL_00038 |
46027 |
31 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4966G>A |
None |
M0084994 |
LGPGPKHL_00038 |
46051 |
32 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4990T>C |
None |
M0084995 |
LGPGPKHL_00048 |
46709 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Asn48Asn |
M0084996 |
LGPGPKHL_00048 |
46773 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
208C>A |
Arg70Arg |
M0084997 |
LGPGPKHL_00048 |
46778 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
213A>C |
Ala71Ala |
M0084998 |
LGPGPKHL_00048 |
46832 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Leu89Leu |
M0084999 |
LGPGPKHL_00048 |
46842 |
33 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
277G>A |
Asp93Asn |
M0085000 |
LGPGPKHL_00048 |
46847 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Asp94Asp |
M0085001 |
LGPGPKHL_00050 |
48313 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
244G>T |
Asp82Tyr |
M0085002 |
LGPGPKHL_00051 |
48641 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Pro35Pro |
M0085003 |
LGPGPKHL_00051 |
48650 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Phe38Phe |
M0085004 |
LGPGPKHL_00053 |
50472 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Gly165Gly |
M0085005 |
LGPGPKHL_00054 |
51556 |
39 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
844A>G |
Thr282Ala |
M0085006 |
LGPGPKHL_00054 |
51717 |
49 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1005C>G |
Ala335Ala |
M0085007 |
LGPGPKHL_00055 |
53470 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
658T>G |
Ser220Ala |
M0085008 |
LGPGPKHL_00055 |
53480 |
35 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648T>A |
Ala216Ala |
M0085009 |
LGPGPKHL_00055 |
53493 |
38 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
635C>T |
Ala212Val |
M0085010 |
LGPGPKHL_00069 |
65743 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Ala12Thr |
M0085011 |
LGPGPKHL_00069 |
65744 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33C>A |
Ser11Ser |
M0085012 |
LGPGPKHL_00069 |
65747 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Arg10Arg |
M0085013 |
LGPGPKHL_00069 |
65750 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
27C>G |
Pro9Pro |
M0085014 |
LGPGPKHL_00069 |
65754 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
23T>C |
Ile8Thr |
M0085015 |
LGPGPKHL_00062 |
65781 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3935T>C |
None |
M0085016 |
LGPGPKHL_00062 |
65794 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3948C>T |
None |
M0085017 |
LGPGPKHL_00062 |
65820 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3974C>T |
None |
M0085018 |
LGPGPKHL_00070 |
65882 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
679C>A |
Gln227Lys |
M0085019 |
LGPGPKHL_00070 |
65883 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Leu226Leu |
M0085020 |
LGPGPKHL_00070 |
65884 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
677T>C |
Leu226Pro |
M0085021 |
LGPGPKHL_00070 |
65950 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
611T>C |
Val204Ala |
M0085022 |
LGPGPKHL_00070 |
65958 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
603A>G |
Ala201Ala |
M0085023 |
LGPGPKHL_00070 |
65961 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Arg200Arg |
M0085024 |
LGPGPKHL_00070 |
65966 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
595T>C |
Leu199Leu |
M0085025 |
LGPGPKHL_00070 |
65967 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
594T>C |
Ala198Ala |
M0085026 |
LGPGPKHL_00070 |
65969 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
592G>A |
Ala198Thr |
M0085027 |
LGPGPKHL_00070 |
66432 |
27 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
129G>T |
Thr43Thr |
M0085028 |
LGPGPKHL_00070 |
66447 |
27 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
114C>G |
Ala38Ala |
M0085029 |
LGPGPKHL_00070 |
66531 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
30G>T |
Ser10Ser |
M0085030 |
LGPGPKHL_00070 |
66542 |
28 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
19C>T |
Pro7Ser |
M0085031 |
LGPGPKHL_00070 |
66543 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
18A>T |
Ala6Ala |
M0085032 |
LGPGPKHL_00070 |
66547 |
28 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
14T>C |
Leu5Ser |
M0085033 |
LGPGPKHL_00062 |
66624 |
27 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4778A>G |
None |
M0085034 |
LGPGPKHL_00071 |
66991 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
492G>T |
Gln164His |
M0085035 |
LGPGPKHL_00071 |
67006 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Gly159Gly |
M0085036 |
LGPGPKHL_00039 |
41205 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Arg102Arg |
M0085037 |
LGPGPKHL_00039 |
41223 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Val96Val |
M0085038 |
LGPGPKHL_00057 |
56534 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Ala112Ala |
M0085039 |
LGPGPKHL_00057 |
56537 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
333G>C |
Glu111Asp |
M0085040 |
LGPGPKHL_00007 |
7685 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111T>G |
Gly37Gly |
M0085041 |
LGPGPKHL_00007 |
7706 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Glu30Glu |
M0085042 |
LGPGPKHL_00003 |
7857 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4050G>C |
None |
M0085043 |
LGPGPKHL_00008 |
7929 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
922C>A |
Pro308Thr |
M0085044 |
LGPGPKHL_00008 |
8011 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
840G>A |
Arg280Arg |
M0085045 |
LGPGPKHL_00062 |
60452 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1395C>T |
Ala465Ala |
M0085046 |
LGPGPKHL_00043 |
44736 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159T>G |
Leu53Leu |
M0085047 |
LGPGPKHL_00043 |
44763 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132G>C |
Ala44Ala |
M0085048 |
LGPGPKHL_00043 |
44820 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
75G>T |
Val25Val |
M0085049 |
LGPGPKHL_00044 |
44957 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
309G>C |
Val103Val |
M0085050 |
LGPGPKHL_00044 |
44987 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Gln93Gln |
M0085051 |
LGPGPKHL_00044 |
45017 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Glu83Glu |
M0085052 |
LGPGPKHL_00044 |
45029 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237C>G |
Gly79Gly |
M0085053 |
LGPGPKHL_00044 |
45119 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
147C>G |
Thr49Thr |
M0085054 |
LGPGPKHL_00044 |
45122 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Glu48Glu |
M0085055 |
LGPGPKHL_00044 |
45140 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126C>A |
Thr42Thr |
M0085056 |
LGPGPKHL_00044 |
45149 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117G>C |
Thr39Thr |
M0085057 |
LGPGPKHL_00044 |
45176 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Gln30Gln |
M0085058 |
LGPGPKHL_00044 |
45191 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Ala25Ala |
M0085059 |
LGPGPKHL_00044 |
45203 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
63C>A |
Ala21Ala |
M0085060 |
LGPGPKHL_00044 |
45208 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Ala20Thr |
M0085061 |
LGPGPKHL_00044 |
45238 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
28T>C |
Phe10Leu |
M0085062 |
LGPGPKHL_00044 |
45252 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
14A>T |
Asn5Ile |
M0085063 |
LGPGPKHL_00044 |
45260 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
6C>A |
His2Gln |
M0085064 |
LGPGPKHL_00038 |
45270 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4209C>T |
None |
M0085065 |
LGPGPKHL_00038 |
45271 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4210C>A |
None |
M0085066 |
LGPGPKHL_00038 |
45280 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4219A>C |
None |
M0085067 |
LGPGPKHL_00045 |
45288 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228G>C |
Leu76Leu |
M0085068 |
LGPGPKHL_00045 |
45301 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
215G>C |
Ser72Thr |
M0085069 |
LGPGPKHL_00045 |
45327 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
189C>A |
Arg63Arg |
M0085070 |
LGPGPKHL_00045 |
45384 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Tyr44Tyr |
M0085071 |
LGPGPKHL_00045 |
45459 |
20 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Ala19Ala |
M0085072 |
LGPGPKHL_00045 |
45474 |
20 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Gly14Gly |
M0085073 |
LGPGPKHL_00046 |
45520 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
376G>A |
Glu126Lys |
M0085074 |
LGPGPKHL_00046 |
45525 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
371A>G |
Glu124Gly |
M0085075 |
LGPGPKHL_00046 |
45537 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
359A>C |
Lys120Thr |
M0085076 |
LGPGPKHL_00046 |
45538 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
358A>G |
Lys120Glu |
M0085077 |
LGPGPKHL_00047 |
46152 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
54G>T |
Val18Val |
M0085078 |
LGPGPKHL_00047 |
46413 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
315C>A |
Leu105Leu |
M0085079 |
LGPGPKHL_00048 |
46910 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
345G>T |
Arg115Arg |
M0085080 |
LGPGPKHL_00048 |
46982 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Leu139Leu |
M0085081 |
LGPGPKHL_00048 |
46994 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Asp143Asp |
M0085082 |
LGPGPKHL_00048 |
47006 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Val147Val |
M0085083 |
LGPGPKHL_00048 |
47057 |
31 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
492G>T |
Glu164Asp |
M0085084 |
LGPGPKHL_00048 |
47090 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Gln175Gln |
M0085085 |
LGPGPKHL_00049 |
47227 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Asp23Asp |
M0085086 |
LGPGPKHL_00049 |
47229 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
71C>A |
Thr24Lys |
M0085087 |
LGPGPKHL_00049 |
47239 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Gly27Gly |
M0085088 |
LGPGPKHL_00049 |
47241 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
83C>A |
Ala28Asp |
M0085089 |
LGPGPKHL_00049 |
47243 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
85C>T |
Leu29Leu |
M0085090 |
LGPGPKHL_00049 |
47254 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
96C>G |
Ser32Ser |
M0085091 |
LGPGPKHL_00049 |
47260 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
102C>G |
Val34Val |
M0085092 |
LGPGPKHL_00049 |
47272 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Ala38Ala |
M0085093 |
LGPGPKHL_00049 |
47273 |
29 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
115C>A |
Leu39Ile |
M0085094 |
LGPGPKHL_00049 |
47278 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Lys40Lys |
M0085095 |
LGPGPKHL_00049 |
47281 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Lys41Lys |
M0085096 |
LGPGPKHL_00049 |
47296 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Gln46Gln |
M0085097 |
LGPGPKHL_00049 |
47467 |
35 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Val103Val |
M0085098 |
LGPGPKHL_00049 |
47614 |
37 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Ala152Ala |
M0085099 |
LGPGPKHL_00049 |
47824 |
37 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
666G>A |
Leu222Leu |
M0085100 |
LGPGPKHL_00049 |
48014 |
35 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
856C>T |
Leu286Leu |
M0085101 |
LGPGPKHL_00049 |
48039 |
37 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
881C>A |
Thr294Lys |
M0085102 |
LGPGPKHL_00050 |
48129 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Thr20Thr |
M0085103 |
LGPGPKHL_00050 |
48199 |
37 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Ala44Thr |
M0085104 |
LGPGPKHL_00050 |
48416 |
36 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
347C>G |
Thr116Ser |
M0085105 |
LGPGPKHL_00050 |
48498 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Gly143Gly |
M0085106 |
LGPGPKHL_00051 |
48752 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Lys72Lys |
M0085107 |
LGPGPKHL_00051 |
48818 |
35 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Thr94Thr |
M0085108 |
LGPGPKHL_00051 |
48911 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Arg125Arg |
M0085109 |
LGPGPKHL_00051 |
48926 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Gly130Gly |
M0085110 |
LGPGPKHL_00052 |
49183 |
36 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
147G>T |
Gly49Gly |
M0085111 |
LGPGPKHL_00052 |
49444 |
40 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Asp136Asp |
M0085112 |
LGPGPKHL_00052 |
49614 |
37 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
578A>T |
Gln193Leu |
M0085113 |
LGPGPKHL_00052 |
49732 |
41 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
696T>A |
Arg232Arg |
M0085114 |
LGPGPKHL_00052 |
49840 |
40 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
804G>A |
Gln268Gln |
M0085115 |
LGPGPKHL_00053 |
50022 |
41 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
45A>G |
Glu15Glu |
M0085116 |
LGPGPKHL_00053 |
50148 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Ala57Ala |
M0085117 |
LGPGPKHL_00053 |
50283 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
306G>T |
Val102Val |
M0085118 |
LGPGPKHL_00046 |
50708 |
35 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4813A>C |
None |
M0085119 |
LGPGPKHL_00054 |
50758 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
46A>G |
Thr16Ala |
M0085120 |
LGPGPKHL_00054 |
51175 |
33 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
463A>G |
Ile155Val |
M0085121 |
LGPGPKHL_00054 |
51210 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Glu166Glu |
M0085122 |
LGPGPKHL_00054 |
51446 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
734A>G |
Gln245Arg |
M0085123 |
LGPGPKHL_00054 |
51744 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1032C>G |
Ala344Ala |
M0085124 |
LGPGPKHL_00054 |
51827 |
40 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1115A>G |
Glu372Gly |
M0085125 |
LGPGPKHL_00054 |
51837 |
40 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1125C>T |
Ala375Ala |
M0085126 |
LGPGPKHL_00054 |
51843 |
40 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1131G>A |
Ala377Ala |
M0085127 |
LGPGPKHL_00054 |
51912 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1200G>A |
Gln400Gln |
M0085128 |
LGPGPKHL_00054 |
51930 |
37 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1218A>G |
Thr406Thr |
M0085129 |
LGPGPKHL_00054 |
51960 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1248T>G |
Cys416Trp |
M0085130 |
LGPGPKHL_00054 |
52072 |
36 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1360G>T |
Gly454Trp |
M0085131 |
LGPGPKHL_00054 |
52159 |
33 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1447A>C |
Asn483His |
M0085132 |
LGPGPKHL_00054 |
52383 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1671T>C |
Gly557Gly |
M0085133 |
LGPGPKHL_00054 |
52389 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1677G>A |
Leu559Leu |
M0085134 |
LGPGPKHL_00054 |
52574 |
35 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1862C>T |
Ala621Val |
M0085135 |
LGPGPKHL_00054 |
52621 |
37 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1909C>T |
Leu637Leu |
M0085136 |
LGPGPKHL_00054 |
52626 |
37 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1914C>T |
Gly638Gly |
M0085137 |
LGPGPKHL_00054 |
52677 |
33 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1965A>C |
Ile655Ile |
M0085138 |
LGPGPKHL_00054 |
52695 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1983C>T |
Asn661Asn |
M0085139 |
LGPGPKHL_00054 |
52701 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1989C>A |
Ile663Ile |
M0085140 |
LGPGPKHL_00054 |
52845 |
38 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2133T>C |
Ile711Ile |
M0085141 |
LGPGPKHL_00054 |
52974 |
43 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2262T>C |
Arg754Arg |
M0085142 |
LGPGPKHL_00054 |
53176 |
41 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2464C>A |
Arg822Arg |
M0085143 |
LGPGPKHL_00054 |
53259 |
41 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2547T>C |
Phe849Phe |
M0085144 |
LGPGPKHL_00050 |
53360 |
44 |
Skin |
0.11 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4820C>A |
None |
M0085145 |
LGPGPKHL_00055 |
53603 |
29 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Ile175Ile |
M0085146 |
LGPGPKHL_00055 |
53621 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Ala169Ala |
M0085147 |
LGPGPKHL_00055 |
53624 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
504G>T |
Thr168Thr |
M0085148 |
LGPGPKHL_00055 |
53648 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Val160Val |
M0085149 |
LGPGPKHL_00055 |
53773 |
32 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
355C>G |
Pro119Ala |
M0085150 |
LGPGPKHL_00055 |
53781 |
32 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
347T>C |
Val116Ala |
M0085151 |
LGPGPKHL_00055 |
53857 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
271T>C |
Leu91Leu |
M0085152 |
LGPGPKHL_00055 |
53885 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Val81Val |
M0085153 |
LGPGPKHL_00055 |
53934 |
37 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
194G>A |
Arg65Gln |
M0085154 |
LGPGPKHL_00056 |
54292 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2025C>T |
Tyr675Tyr |
M0085155 |
LGPGPKHL_00056 |
54312 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2005C>T |
Leu669Leu |
M0085156 |
LGPGPKHL_00056 |
54318 |
31 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1999G>A |
Ala667Thr |
M0085157 |
LGPGPKHL_00056 |
54334 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1983G>C |
Pro661Pro |
M0085158 |
LGPGPKHL_00056 |
54340 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1977G>A |
Pro659Pro |
M0085159 |
LGPGPKHL_00056 |
54349 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1968G>T |
Leu656Leu |
M0085160 |
LGPGPKHL_00056 |
54358 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1959T>C |
Arg653Arg |
M0085161 |
LGPGPKHL_00056 |
54370 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1947C>T |
Leu649Leu |
M0085162 |
LGPGPKHL_00056 |
54400 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1917G>A |
Gln639Gln |
M0085163 |
LGPGPKHL_00056 |
54415 |
30 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1902C>T |
Gly634Gly |
M0085164 |
LGPGPKHL_00056 |
54487 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1830T>C |
Asp610Asp |
M0085165 |
LGPGPKHL_00056 |
54541 |
28 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1776A>G |
Thr592Thr |
M0085166 |
LGPGPKHL_00056 |
54658 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1659T>C |
Asn553Asn |
M0085167 |
LGPGPKHL_00056 |
54661 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1656A>C |
Gly552Gly |
M0085168 |
LGPGPKHL_00056 |
54685 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1632C>T |
Leu544Leu |
M0085169 |
LGPGPKHL_00056 |
54691 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1626G>A |
Gln542Gln |
M0085170 |
LGPGPKHL_00056 |
54700 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1617G>C |
Ala539Ala |
M0085171 |
LGPGPKHL_00056 |
54703 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1614G>C |
Thr538Thr |
M0085172 |
LGPGPKHL_00056 |
54718 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1599C>G |
Ala533Ala |
M0085173 |
LGPGPKHL_00056 |
54721 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1596T>C |
Gly532Gly |
M0085174 |
LGPGPKHL_00056 |
54724 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1593C>T |
Gly531Gly |
M0085175 |
LGPGPKHL_00062 |
60113 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1734C>A |
Ile578Ile |
M0085176 |
LGPGPKHL_00062 |
60143 |
15 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1704T>C |
Phe568Phe |
M0085177 |
LGPGPKHL_00025 |
26368 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
10T>C |
Ser4Pro |
M0085178 |
LGPGPKHL_00026 |
27087 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
352T>C |
Phe118Leu |
M0085179 |
LGPGPKHL_00062 |
60341 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1506T>C |
Arg502Arg |
M0085180 |
LGPGPKHL_00010 |
16716 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4854T>G |
None |
M0085181 |
LGPGPKHL_00038 |
40554 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
508C>T |
Leu170Leu |
M0085182 |
LGPGPKHL_00039 |
41446 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
65C>G |
Ala22Gly |
M0085183 |
LGPGPKHL_00039 |
41472 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Ala13Ala |
M0085184 |
LGPGPKHL_00039 |
41473 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
38C>T |
Ala13Val |
M0085185 |
LGPGPKHL_00039 |
41475 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Leu12Leu |
M0085186 |
LGPGPKHL_00039 |
41490 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
21C>G |
Asn7Lys |
M0085187 |
LGPGPKHL_00039 |
41494 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
17C>T |
Thr6Ile |
M0085188 |
LGPGPKHL_00039 |
41497 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
14T>C |
Leu5Ser |
M0085189 |
LGPGPKHL_00039 |
41503 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
8T>C |
Leu3Ser |
M0085190 |
LGPGPKHL_00039 |
41506 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
5C>T |
Pro2Leu |
M0085191 |
LGPGPKHL_00055 |
53991 |
33 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
137C>T |
Ala46Val |
M0085192 |
LGPGPKHL_00055 |
54026 |
32 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Ile34Ile |
M0085193 |
LGPGPKHL_00055 |
54053 |
31 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Leu25Leu |
M0085194 |
LGPGPKHL_00008 |
8599 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Val84Val |
M0085195 |
LGPGPKHL_00008 |
8626 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Gln75Gln |
M0085196 |
LGPGPKHL_00008 |
8632 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Gly73Gly |
M0085197 |
LGPGPKHL_00008 |
8678 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
173C>T |
Ala58Val |
M0085198 |
LGPGPKHL_00008 |
8692 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Ala53Ala |
M0085199 |
LGPGPKHL_00008 |
8710 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141C>A |
Val47Val |
M0085200 |
LGPGPKHL_00008 |
8736 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
115G>T |
Ala39Ser |
M0085201 |
LGPGPKHL_00008 |
8767 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
84T>A |
Gly28Gly |
M0085202 |
LGPGPKHL_00008 |
8809 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>T |
Leu14Leu |
M0085203 |
LGPGPKHL_00009 |
8933 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
309T>C |
Gly103Gly |
M0085204 |
LGPGPKHL_00009 |
8936 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
306C>G |
Pro102Pro |
M0085205 |
LGPGPKHL_00009 |
9086 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
156A>G |
Glu52Glu |
M0085206 |
LGPGPKHL_00009 |
9101 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Glu47Glu |
M0085207 |
LGPGPKHL_00009 |
9119 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Ser41Ser |
M0085208 |
LGPGPKHL_00009 |
9191 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Gly17Gly |
M0085209 |
LGPGPKHL_00006 |
9245 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1966C>T |
None |
M0085210 |
LGPGPKHL_00006 |
9246 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1967T>C |
None |
M0085211 |
LGPGPKHL_00006 |
9249 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1970G>A |
None |
M0085212 |
LGPGPKHL_00006 |
9256 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1977A>C |
None |
M0085213 |
LGPGPKHL_00010 |
10262 |
15 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1601G>C |
Arg534Pro |
M0085214 |
LGPGPKHL_00010 |
10530 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1333T>C |
Phe445Leu |
M0085215 |
LGPGPKHL_00010 |
10540 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1323C>A |
Val441Val |
M0085216 |
LGPGPKHL_00010 |
10876 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
987G>A |
Pro329Pro |
M0085217 |
LGPGPKHL_00010 |
10918 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
945G>C |
Thr315Thr |
M0085218 |
LGPGPKHL_00010 |
10927 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Ala312Ala |
M0085219 |
LGPGPKHL_00010 |
10954 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
909A>G |
Ala303Ala |
M0085220 |
LGPGPKHL_00010 |
11068 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Ala265Ala |
M0085221 |
LGPGPKHL_00010 |
11101 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Val254Val |
M0085222 |
LGPGPKHL_00010 |
11254 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Thr203Thr |
M0085223 |
LGPGPKHL_00010 |
11304 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
559C>T |
Leu187Leu |
M0085224 |
LGPGPKHL_00010 |
11319 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
544T>C |
Leu182Leu |
M0085225 |
LGPGPKHL_00010 |
11374 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Asp163Asp |
M0085226 |
LGPGPKHL_00010 |
11392 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Pro157Pro |
M0085227 |
LGPGPKHL_00010 |
11539 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Ala108Ala |
M0085228 |
LGPGPKHL_00010 |
11570 |
11 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
293G>A |
Gly98Asp |
M0085229 |
LGPGPKHL_00010 |
11598 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Thr89Ala |
M0085230 |
LGPGPKHL_00010 |
11786 |
19 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
77A>C |
Lys26Thr |
M0085231 |
LGPGPKHL_00006 |
12214 |
19 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935T>C |
None |
M0085232 |
LGPGPKHL_00011 |
12231 |
19 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
482T>G |
Leu161Arg |
M0085233 |
LGPGPKHL_00012 |
12810 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Arg307Arg |
M0085234 |
LGPGPKHL_00012 |
13023 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708C>A |
Gly236Gly |
M0085235 |
LGPGPKHL_00013 |
14368 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1290T>A |
Ala430Ala |
M0085236 |
LGPGPKHL_00013 |
14449 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1209C>G |
Gly403Gly |
M0085237 |
LGPGPKHL_00013 |
14452 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1206G>C |
Thr402Thr |
M0085238 |
LGPGPKHL_00013 |
14482 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1176C>T |
His392His |
M0085239 |
LGPGPKHL_00013 |
14505 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1153A>G |
Ser385Gly |
M0085240 |
LGPGPKHL_00013 |
15130 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Gly176Gly |
M0085241 |
LGPGPKHL_00038 |
40690 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Ser124Ser |
M0085242 |
LGPGPKHL_00040 |
41998 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Gly304Gly |
M0085243 |
LGPGPKHL_00040 |
42001 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
909A>C |
Arg303Arg |
M0085244 |
LGPGPKHL_00040 |
42013 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Leu299Leu |
M0085245 |
LGPGPKHL_00040 |
42031 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
879C>A |
Ala293Ala |
M0085246 |
LGPGPKHL_00009 |
8988 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
254G>C |
Gly85Ala |
M0085247 |
LGPGPKHL_00009 |
9044 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198G>T |
Thr66Thr |
M0085248 |
LGPGPKHL_00009 |
9059 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
183A>G |
Ala61Ala |
M0085249 |
LGPGPKHL_00010 |
10264 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1599A>C |
Ala533Ala |
M0085250 |
LGPGPKHL_00010 |
10377 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1486T>C |
Leu496Leu |
M0085251 |
LGPGPKHL_00010 |
11659 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Arg68Arg |
M0085252 |
LGPGPKHL_00006 |
11890 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4611C>A |
None |
M0085253 |
LGPGPKHL_00006 |
12156 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4877T>C |
None |
M0085254 |
LGPGPKHL_00006 |
12210 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4931T>C |
None |
M0085255 |
LGPGPKHL_00011 |
12347 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
366G>C |
Pro122Pro |
M0085256 |
LGPGPKHL_00011 |
12455 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258G>T |
Ser86Ser |
M0085257 |
LGPGPKHL_00013 |
14665 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Asp331Asp |
M0085258 |
LGPGPKHL_00013 |
14680 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
978G>T |
Pro326Pro |
M0085259 |
LGPGPKHL_00013 |
14758 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
900C>A |
Pro300Pro |
M0085260 |
LGPGPKHL_00013 |
15025 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Tyr211Tyr |
M0085261 |
LGPGPKHL_00065 |
63432 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
427T>C |
Leu143Leu |
M0085262 |
LGPGPKHL_00065 |
63444 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
415T>A |
Ser139Thr |
M0085263 |
LGPGPKHL_00065 |
63445 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Arg138Arg |
M0085264 |
LGPGPKHL_00065 |
63535 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Pro108Pro |
M0085265 |
LGPGPKHL_00065 |
63547 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312G>C |
Leu104Leu |
M0085266 |
LGPGPKHL_00065 |
63550 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Leu103Leu |
M0085267 |
LGPGPKHL_00065 |
63553 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Gly102Gly |
M0085268 |
LGPGPKHL_00065 |
63573 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Ile96Val |
M0085269 |
LGPGPKHL_00065 |
63640 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219C>G |
Ala73Ala |
M0085270 |
LGPGPKHL_00065 |
63649 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Glu70Glu |
M0085271 |
LGPGPKHL_00065 |
63669 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Thr64Ala |
M0085272 |
LGPGPKHL_00065 |
63673 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Glu62Glu |
M0085273 |
LGPGPKHL_00065 |
63691 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Ser56Ser |
M0085274 |
LGPGPKHL_00065 |
63693 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
166T>G |
Ser56Ala |
M0085275 |
LGPGPKHL_00065 |
63706 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Ala51Ala |
M0085276 |
LGPGPKHL_00065 |
63718 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Gly47Gly |
M0085277 |
LGPGPKHL_00065 |
63811 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
48G>T |
Gly16Gly |
M0085278 |
LGPGPKHL_00065 |
63814 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Asn15Asn |
M0085279 |
LGPGPKHL_00065 |
63817 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Lys14Lys |
M0085280 |
LGPGPKHL_00065 |
63853 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Ala2Ala |
M0085281 |
LGPGPKHL_00066 |
63965 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
606C>G |
Pro202Pro |
M0085282 |
LGPGPKHL_00066 |
64012 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
559T>C |
Leu187Leu |
M0085283 |
LGPGPKHL_00066 |
64014 |
11 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
557G>C |
Ser186Thr |
M0085284 |
LGPGPKHL_00066 |
64095 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
476G>C |
Ser159Thr |
M0085285 |
LGPGPKHL_00040 |
42634 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Arg92Arg |
M0085286 |
LGPGPKHL_00042 |
43975 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Arg175Arg |
M0085287 |
LGPGPKHL_00042 |
43990 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Lys170Lys |
M0085288 |
LGPGPKHL_00042 |
44059 |
20 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Val147Val |
M0085289 |
LGPGPKHL_00042 |
44494 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
6C>T |
Ser2Ser |
M0085290 |
LGPGPKHL_00043 |
44582 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
313C>G |
Arg105Gly |
M0085291 |
LGPGPKHL_00043 |
44607 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Arg96Arg |
M0085292 |
LGPGPKHL_00043 |
44613 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
282G>T |
Leu94Leu |
M0085293 |
LGPGPKHL_00043 |
44634 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Arg87Arg |
M0085294 |
LGPGPKHL_00043 |
44643 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Arg84Arg |
M0085295 |
LGPGPKHL_00043 |
44670 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225G>C |
Val75Val |
M0085296 |
LGPGPKHL_00043 |
44678 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
217T>C |
Leu73Leu |
M0085297 |
LGPGPKHL_00043 |
44694 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Val67Val |
M0085298 |
LGPGPKHL_00043 |
44706 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Ala63Ala |
M0085299 |
LGPGPKHL_00043 |
44733 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162G>C |
Ser54Ser |
M0085300 |
LGPGPKHL_00043 |
44793 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Glu34Glu |
M0085301 |
LGPGPKHL_00043 |
44823 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Pro24Pro |
M0085302 |
LGPGPKHL_00043 |
44826 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
His23His |
M0085303 |
LGPGPKHL_00043 |
44841 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
His18His |
M0085304 |
LGPGPKHL_00044 |
44963 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Gly101Gly |
M0085305 |
LGPGPKHL_00044 |
44969 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
297C>G |
Ala99Ala |
M0085306 |
LGPGPKHL_00044 |
44975 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291G>C |
Thr97Thr |
M0085307 |
LGPGPKHL_00044 |
44984 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Phe94Phe |
M0085308 |
LGPGPKHL_00044 |
44996 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270G>C |
Thr90Thr |
M0085309 |
LGPGPKHL_00044 |
45071 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Val65Val |
M0085310 |
LGPGPKHL_00044 |
45077 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Leu63Leu |
M0085311 |
LGPGPKHL_00044 |
45083 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Val61Val |
M0085312 |
LGPGPKHL_00044 |
45113 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
153C>G |
Arg51Arg |
M0085313 |
LGPGPKHL_00044 |
45115 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
151C>A |
Arg51Ser |
M0085314 |
LGPGPKHL_00044 |
45173 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Gly31Gly |
M0085315 |
LGPGPKHL_00044 |
45220 |
16 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
46G>A |
Val16Met |
M0085316 |
LGPGPKHL_00044 |
45236 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
30T>C |
Phe10Phe |
M0085317 |
LGPGPKHL_00045 |
45291 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Leu75Leu |
M0085318 |
LGPGPKHL_00065 |
63409 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Val150Val |
M0085319 |
LGPGPKHL_00065 |
63439 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420G>C |
Leu140Leu |
M0085320 |
LGPGPKHL_00065 |
63451 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Tyr136Tyr |
M0085321 |
LGPGPKHL_00065 |
63466 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Leu131Leu |
M0085322 |
LGPGPKHL_00065 |
63526 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
333C>G |
Gly111Gly |
M0085323 |
LGPGPKHL_00065 |
63538 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Asn107Asn |
M0085324 |
LGPGPKHL_00065 |
63541 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
318G>C |
Leu106Leu |
M0085325 |
LGPGPKHL_00065 |
63667 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192C>A |
Thr64Thr |
M0085326 |
LGPGPKHL_00065 |
63775 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
84C>G |
Ala28Ala |
M0085327 |
LGPGPKHL_00061 |
63886 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4458A>T |
None |
M0085328 |
LGPGPKHL_00061 |
63887 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4459C>G |
None |
M0085329 |
LGPGPKHL_00061 |
63895 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4467G>A |
None |
M0085330 |
LGPGPKHL_00066 |
63986 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Ser195Ser |
M0085331 |
LGPGPKHL_00066 |
64004 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
567G>C |
Leu189Leu |
M0085332 |
LGPGPKHL_00066 |
64130 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Asp147Asp |
M0085333 |
LGPGPKHL_00066 |
64186 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
385C>A |
Arg129Arg |
M0085334 |
LGPGPKHL_00066 |
64199 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Arg124Arg |
M0085335 |
LGPGPKHL_00066 |
64283 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Gly96Gly |
M0085336 |
LGPGPKHL_00066 |
64295 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276A>G |
Arg92Arg |
M0085337 |
LGPGPKHL_00066 |
64304 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
267C>G |
Ala89Ala |
M0085338 |
LGPGPKHL_00093 |
89244 |
11 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
851A>G |
His284Arg |
M0085339 |
LGPGPKHL_00093 |
89341 |
19 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
754A>G |
Ser252Gly |
M0085340 |
LGPGPKHL_00010 |
9567 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2296G>C |
Gly766Arg |
M0085341 |
LGPGPKHL_00010 |
9601 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2262T>C |
Ile754Ile |
M0085342 |
LGPGPKHL_00010 |
9616 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2247C>T |
Gly749Gly |
M0085343 |
LGPGPKHL_00010 |
9637 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2226T>C |
Ala742Ala |
M0085344 |
LGPGPKHL_00010 |
9934 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1929C>T |
Asp643Asp |
M0085345 |
LGPGPKHL_00010 |
9940 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1923A>G |
Val641Val |
M0085346 |
LGPGPKHL_00010 |
9952 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1911T>C |
Gly637Gly |
M0085347 |
LGPGPKHL_00010 |
9961 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1902A>G |
Gln634Gln |
M0085348 |
LGPGPKHL_00010 |
9973 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1890T>G |
Ala630Ala |
M0085349 |
LGPGPKHL_00010 |
9978 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1885T>C |
Leu629Leu |
M0085350 |
LGPGPKHL_00010 |
10011 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1852A>G |
Thr618Ala |
M0085351 |
LGPGPKHL_00010 |
10700 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1163A>G |
Asn388Ser |
M0085352 |
LGPGPKHL_00010 |
10736 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1127C>T |
Ala376Val |
M0085353 |
LGPGPKHL_00010 |
11473 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390G>C |
Thr130Thr |
M0085354 |
LGPGPKHL_00010 |
11482 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Ala127Ala |
M0085355 |
LGPGPKHL_00011 |
12569 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144T>A |
Gly48Gly |
M0085356 |
LGPGPKHL_00011 |
12590 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
123G>C |
Val41Val |
M0085357 |
LGPGPKHL_00011 |
12599 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Ile38Ile |
M0085358 |
LGPGPKHL_00062 |
59945 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1902T>C |
Asp634Asp |
M0085359 |
LGPGPKHL_00062 |
60050 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1797C>T |
Val599Val |
M0085360 |
LGPGPKHL_00062 |
60062 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1785G>A |
Gln595Gln |
M0085361 |
LGPGPKHL_00062 |
60098 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1749T>C |
Arg583Arg |
M0085362 |
LGPGPKHL_00062 |
60104 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1743G>A |
Lys581Lys |
M0085363 |
LGPGPKHL_00062 |
60107 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1740C>G |
Pro580Pro |
M0085364 |
LGPGPKHL_00062 |
60110 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1737C>A |
Ser579Arg |
M0085365 |
LGPGPKHL_00062 |
60111 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1736G>C |
Ser579Thr |
M0085366 |
LGPGPKHL_00062 |
60115 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1732A>G |
Ile578Val |
M0085367 |
LGPGPKHL_00064 |
62429 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Glu90Glu |
M0085368 |
LGPGPKHL_00064 |
62441 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
258G>C |
Val86Val |
M0085369 |
LGPGPKHL_00064 |
62446 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
253C>A |
Leu85Ile |
M0085370 |
LGPGPKHL_00064 |
62449 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
250T>C |
Leu84Leu |
M0085371 |
LGPGPKHL_00064 |
62451 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
248T>C |
Val83Ala |
M0085372 |
LGPGPKHL_00064 |
62456 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
243A>C |
Glu81Asp |
M0085373 |
LGPGPKHL_00064 |
62470 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
229C>A |
Arg77Arg |
M0085374 |
LGPGPKHL_00064 |
62472 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
227A>T |
Tyr76Phe |
M0085375 |
LGPGPKHL_00064 |
62477 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
222C>G |
Ser74Ser |
M0085376 |
LGPGPKHL_00064 |
62486 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Leu71Leu |
M0085377 |
LGPGPKHL_00064 |
62504 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Ala65Ala |
M0085378 |
LGPGPKHL_00064 |
62507 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192C>G |
Val64Val |
M0085379 |
LGPGPKHL_00064 |
62525 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
174C>A |
Thr58Thr |
M0085380 |
LGPGPKHL_00064 |
62603 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Ala32Ala |
M0085381 |
LGPGPKHL_00064 |
62654 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
45C>G |
Pro15Pro |
M0085382 |
LGPGPKHL_00064 |
62664 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
35G>A |
Arg12His |
M0085383 |
LGPGPKHL_00064 |
62695 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
4T>A |
Phe2Ile |
M0085384 |
LGPGPKHL_00059 |
62715 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4540A>C |
None |
M0085385 |
LGPGPKHL_00059 |
62716 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4541C>A |
None |
M0085386 |
LGPGPKHL_00065 |
62763 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1096C>T |
Leu366Leu |
M0085387 |
LGPGPKHL_00065 |
62775 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1084A>C |
Arg362Arg |
M0085388 |
LGPGPKHL_00065 |
62781 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1078C>G |
Pro360Ala |
M0085389 |
LGPGPKHL_00065 |
62791 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1068G>A |
Thr356Thr |
M0085390 |
LGPGPKHL_00065 |
62812 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1047T>C |
Val349Val |
M0085391 |
LGPGPKHL_00065 |
62818 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1041G>T |
Val347Val |
M0085392 |
LGPGPKHL_00065 |
62821 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1038T>C |
Phe346Phe |
M0085393 |
LGPGPKHL_00065 |
62842 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1017A>C |
Thr339Thr |
M0085394 |
LGPGPKHL_00065 |
62878 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Glu327Glu |
M0085395 |
LGPGPKHL_00065 |
62935 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
924G>C |
Thr308Thr |
M0085396 |
LGPGPKHL_00065 |
62940 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
919C>A |
Gln307Lys |
M0085397 |
LGPGPKHL_00065 |
62950 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Val303Val |
M0085398 |
LGPGPKHL_00065 |
62953 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
906C>G |
Gly302Gly |
M0085399 |
LGPGPKHL_00065 |
62956 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
903C>G |
Ser301Ser |
M0085400 |
LGPGPKHL_00065 |
62965 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Gly298Gly |
M0085401 |
LGPGPKHL_00065 |
62996 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
863A>G |
His288Arg |
M0085402 |
LGPGPKHL_00065 |
63028 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
831G>A |
Gln277Gln |
M0085403 |
LGPGPKHL_00065 |
63037 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Thr274Thr |
M0085404 |
LGPGPKHL_00065 |
63039 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
820A>G |
Thr274Ala |
M0085405 |
LGPGPKHL_00065 |
63045 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
814T>C |
Leu272Leu |
M0085406 |
LGPGPKHL_00065 |
63056 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
803T>A |
Leu268Gln |
M0085407 |
LGPGPKHL_00065 |
63061 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Pro266Pro |
M0085408 |
LGPGPKHL_00065 |
63067 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
792T>G |
Leu264Leu |
M0085409 |
LGPGPKHL_00065 |
63069 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
790C>T |
Leu264Phe |
M0085410 |
LGPGPKHL_00065 |
63081 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
778C>A |
Arg260Arg |
M0085411 |
LGPGPKHL_00065 |
63091 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Asp256Asp |
M0085412 |
LGPGPKHL_00065 |
63103 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
756A>G |
Glu252Glu |
M0085413 |
LGPGPKHL_00065 |
63136 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
723G>A |
Pro241Pro |
M0085414 |
LGPGPKHL_00065 |
63148 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Ser237Ser |
M0085415 |
LGPGPKHL_00065 |
63181 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Glu226Glu |
M0085416 |
LGPGPKHL_00065 |
63214 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Leu215Leu |
M0085417 |
LGPGPKHL_00065 |
63215 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
644T>A |
Leu215His |
M0085418 |
LGPGPKHL_00065 |
63220 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
639T>A |
Val213Val |
M0085419 |
LGPGPKHL_00065 |
63228 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
631C>T |
Leu211Leu |
M0085420 |
LGPGPKHL_00065 |
63262 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
597A>G |
Ala199Ala |
M0085421 |
LGPGPKHL_00065 |
63263 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
596C>T |
Ala199Val |
M0085422 |
LGPGPKHL_00065 |
63266 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
593T>A |
Leu198Gln |
M0085423 |
LGPGPKHL_00065 |
63271 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
588G>C |
Arg196Arg |
M0085424 |
LGPGPKHL_00065 |
63277 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Arg194Arg |
M0085425 |
LGPGPKHL_00065 |
63280 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
579C>G |
Val193Val |
M0085426 |
LGPGPKHL_00065 |
63289 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570C>A |
Gly190Gly |
M0085427 |
LGPGPKHL_00065 |
63319 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Glu180Glu |
M0085428 |
LGPGPKHL_00065 |
63337 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Arg174Arg |
M0085429 |
LGPGPKHL_00065 |
63343 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Asp172Asp |
M0085430 |
LGPGPKHL_00065 |
63346 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
513C>G |
Thr171Thr |
M0085431 |
LGPGPKHL_00065 |
63363 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
496T>C |
Leu166Leu |
M0085432 |
LGPGPKHL_00065 |
63375 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
484C>T |
Leu162Leu |
M0085433 |
LGPGPKHL_00065 |
63806 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
53A>T |
Tyr18Phe |
M0085434 |
LGPGPKHL_00065 |
63808 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Tyr17Tyr |
M0085435 |
LGPGPKHL_00065 |
63821 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
38C>T |
Ala13Val |
M0085436 |
LGPGPKHL_00067 |
64691 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
217G>C |
Ala73Pro |
M0085437 |
LGPGPKHL_00067 |
64699 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
209T>C |
Val70Ala |
M0085438 |
LGPGPKHL_00067 |
64703 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
205G>T |
Ala69Ser |
M0085439 |
LGPGPKHL_00067 |
64704 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Thr68Thr |
M0085440 |
LGPGPKHL_00067 |
64722 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
186C>A |
Asp62Glu |
M0085441 |
LGPGPKHL_00067 |
64764 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Ala48Ala |
M0085442 |
LGPGPKHL_00067 |
64779 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
129G>C |
Glu43Asp |
M0085443 |
LGPGPKHL_00067 |
64810 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
98G>C |
Gly33Ala |
M0085444 |
LGPGPKHL_00067 |
64833 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75T>G |
Val25Val |
M0085445 |
LGPGPKHL_00040 |
42553 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Gln119Gln |
M0085446 |
LGPGPKHL_00095 |
90724 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1629C>G |
Leu543Leu |
M0085447 |
LGPGPKHL_00095 |
90726 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1627C>T |
Leu543Phe |
M0085448 |
LGPGPKHL_00095 |
90757 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1596G>C |
Thr532Thr |
M0085449 |
LGPGPKHL_00042 |
44475 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Ala9Thr |
M0085450 |
LGPGPKHL_00055 |
54076 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
52T>C |
Leu18Leu |
M0085451 |
LGPGPKHL_00055 |
54077 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
51C>G |
Gly17Gly |
M0085452 |
LGPGPKHL_00055 |
54080 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gln16Gln |
M0085453 |
LGPGPKHL_00055 |
54086 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
42T>G |
His14Gln |
M0085454 |
LGPGPKHL_00095 |
91103 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1250T>C |
Leu417Pro |
M0085455 |
LGPGPKHL_00095 |
91104 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1249C>G |
Leu417Val |
M0085456 |
LGPGPKHL_00095 |
91286 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1067T>C |
Val356Ala |
M0085457 |
LGPGPKHL_00095 |
91621 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
732T>C |
Ser244Ser |
M0085458 |
LGPGPKHL_00095 |
91645 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Arg236Arg |
M0085459 |
LGPGPKHL_00095 |
92115 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
238A>C |
Arg80Arg |
M0085460 |
LGPGPKHL_00095 |
92161 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Ala64Ala |
M0085461 |
LGPGPKHL_00097 |
93024 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Glu150Glu |
M0085462 |
LGPGPKHL_00097 |
93215 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
259G>A |
Asp87Asn |
M0085463 |
LGPGPKHL_00057 |
56432 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Arg146Arg |
M0085464 |
LGPGPKHL_00057 |
56441 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Ala143Ala |
M0085465 |
LGPGPKHL_00092 |
88007 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420G>C |
Ala140Ala |
M0085466 |
LGPGPKHL_00092 |
88031 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
396C>G |
Leu132Leu |
M0085467 |
LGPGPKHL_00095 |
91078 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1275C>T |
Asp425Asp |
M0085468 |
LGPGPKHL_00010 |
11704 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159C>A |
Arg53Arg |
M0085469 |
LGPGPKHL_00010 |
11758 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
105C>A |
Gly35Gly |
M0085470 |
LGPGPKHL_00010 |
11761 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Ala34Ala |
M0085471 |
LGPGPKHL_00006 |
11939 |
11 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4660G>T |
None |
M0085472 |
LGPGPKHL_00006 |
11942 |
11 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4663C>G |
None |
M0085473 |
LGPGPKHL_00006 |
11957 |
11 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4678G>A |
None |
M0085474 |
LGPGPKHL_00011 |
12254 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Ser153Ser |
M0085475 |
LGPGPKHL_00011 |
12512 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Leu67Leu |
M0085476 |
LGPGPKHL_00011 |
12665 |
11 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gln16Gln |
M0085477 |
LGPGPKHL_00012 |
13143 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
588A>C |
Gly196Gly |
M0085478 |
LGPGPKHL_00095 |
92068 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Arg95Arg |
M0085479 |
LGPGPKHL_00095 |
92105 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
248A>G |
Glu83Gly |
M0085480 |
LGPGPKHL_00095 |
92125 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Ala76Ala |
M0085481 |
LGPGPKHL_00008 |
8186 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
665T>C |
Val222Ala |
M0085482 |
LGPGPKHL_00006 |
9308 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2029G>A |
None |
M0085483 |
LGPGPKHL_00006 |
9337 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2058G>A |
None |
M0085484 |
LGPGPKHL_00006 |
9353 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2074T>C |
None |
M0085485 |
LGPGPKHL_00006 |
9361 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2082A>T |
None |
M0085486 |
LGPGPKHL_00006 |
9363 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2084C>A |
None |
M0085487 |
LGPGPKHL_00006 |
9367 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2088A>T |
None |
M0085488 |
LGPGPKHL_00006 |
9374 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2095A>T |
None |
M0085489 |
LGPGPKHL_00006 |
9375 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2096C>T |
None |
M0085490 |
LGPGPKHL_00006 |
9376 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2097A>T |
None |
M0085491 |
LGPGPKHL_00006 |
9378 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2099A>G |
None |
M0085492 |
LGPGPKHL_00010 |
9403 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2460G>C |
Arg820Arg |
M0085493 |
LGPGPKHL_00010 |
9418 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2445G>T |
Val815Val |
M0085494 |
LGPGPKHL_00010 |
9427 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2436A>G |
Ala812Ala |
M0085495 |
LGPGPKHL_00010 |
9463 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2400C>G |
Pro800Pro |
M0085496 |
LGPGPKHL_00010 |
9474 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2389T>C |
Leu797Leu |
M0085497 |
LGPGPKHL_00010 |
9745 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2118C>A |
Gly706Gly |
M0085498 |
LGPGPKHL_00010 |
9760 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2103G>A |
Arg701Arg |
M0085499 |
LGPGPKHL_00010 |
11727 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
136T>A |
Ser46Thr |
M0085500 |
LGPGPKHL_00011 |
12269 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Ile148Ile |
M0085501 |
LGPGPKHL_00056 |
56298 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Val7Ile |
M0085502 |
LGPGPKHL_00056 |
56308 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
9C>G |
Gly3Gly |
M0085503 |
LGPGPKHL_00011 |
12497 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
216G>C |
Thr72Thr |
M0085504 |
LGPGPKHL_00093 |
89907 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
188G>A |
Gly63Glu |
M0085505 |
LGPGPKHL_00006 |
12075 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4796C>T |
None |
M0085506 |
LGPGPKHL_00013 |
14107 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1551T>C |
Pro517Pro |
M0085507 |
LGPGPKHL_00013 |
15214 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Gln148Gln |
M0085508 |
LGPGPKHL_00007 |
12713 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4918T>C |
None |
M0085509 |
LGPGPKHL_00007 |
12717 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922A>G |
None |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
LGPGPKHL_00011 |
Copper (Cu) |
99.4 |
1.1e-92 |
1 |
160 |
0.9938 |
0.9938 |
experiment |
LGPGPKHL_00012 |
Copper (Cu) |
99.7 |
1.1e-187 |
1 |
326 |
1.0000 |
1.0000 |
experiment |
LGPGPKHL_00013 |
Copper (Cu) |
96.2 |
0 |
1 |
633 |
1.0000 |
1.0226 |
experiment |
LGPGPKHL_00014 |
Copper (Cu) |
97 |
1.5e-125 |
1 |
230 |
1.0000 |
1.0000 |
experiment |
LGPGPKHL_00015 |
Copper (Cu) |
85.9 |
2e-188 |
1 |
382 |
0.9948 |
0.8008 |
experiment |
LGPGPKHL_00020 |
Arsenic (As), Antimony (Sb) |
70.7 |
5.7e-56 |
1 |
140 |
1.0000 |
0.9929 |
experiment |
LGPGPKHL_00076 |
Mercury (Hg) |
81.9 |
2.5e-259 |
1 |
562 |
1.0000 |
1.0000 |
experiment |
LGPGPKHL_00077 |
Mercury (Hg) |
75.3 |
6.2e-28 |
21 |
101 |
0.8020 |
0.8901 |
experiment |
LGPGPKHL_00078 |
Mercury (Hg) |
87.1 |
2.3e-55 |
1 |
116 |
1.0000 |
1.0000 |
experiment |
LGPGPKHL_00079 |
Mercury (Hg), Phenylmercury Acetate [class: Organo-mercury] |
75.8 |
3.3e-53 |
1 |
132 |
0.9778 |
0.9167 |
experiment |
LGPGPKHL_00086 |
Lead (Pb) |
70.6 |
4.9e-303 |
213 |
979 |
0.7864 |
0.9675 |
experiment |
LGPGPKHL_00008 |
Copper (Cu) |
100 |
7.8e-160 |
1 |
308 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00009 |
Copper (Cu) |
100 |
6.7e-65 |
1 |
128 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00010 |
Copper (Cu) |
79.6 |
0 |
25 |
826 |
0.9722 |
1.0177 |
prediction |
LGPGPKHL_00011 |
Copper (Cu) |
100 |
1.1e-91 |
1 |
161 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00012 |
Copper (Cu) |
100 |
3e-186 |
1 |
326 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00013 |
Copper (Cu), Silver (Ag) |
100 |
0 |
1 |
633 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00014 |
Copper (Cu) |
100 |
7.7e-128 |
1 |
230 |
1.0000 |
0.9829 |
prediction |
LGPGPKHL_00015 |
Copper (Cu) |
100 |
1.6e-218 |
1 |
384 |
1.0000 |
0.8170 |
prediction |
LGPGPKHL_00020 |
Arsenic (As) |
70.7 |
1.3e-53 |
1 |
140 |
1.0000 |
0.9929 |
prediction |
LGPGPKHL_00076 |
Mercury (Hg), Phenylmercury Acetate [class: Organo-mercury] |
100 |
3.60000000001819e-313 |
1 |
562 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00077 |
Mercury (Hg) |
91 |
1.7e-34 |
13 |
101 |
0.8812 |
0.9674 |
prediction |
LGPGPKHL_00078 |
Mercury (Hg) |
100 |
3.8e-59 |
1 |
116 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00079 |
Mercury (Hg) |
100 |
1e-71 |
1 |
135 |
1.0000 |
1.0000 |
prediction |
LGPGPKHL_00086 |
Lead (Pb) |
70.6 |
1.1e-300 |
213 |
979 |
0.7864 |
0.9675 |
prediction |
LGPGPKHL_00345 |
Arsenic (As) |
78.1 |
3.2e-141 |
6 |
343 |
0.9575 |
0.9135 |
prediction |
LGPGPKHL_00346 |
Arsenic (As) |
71.9 |
1.4e-93 |
17 |
251 |
0.9252 |
0.9833 |
prediction |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
LGPGPKHL_00753 |
PHI:123321 |
thiG (pspto_0434) |
70.4 |
5.9e-95 |
77 |
331 |
0.7704 |
0.9735 |
eudicots |
bacterial speck |
thiazole synthase |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
LGPGPKHL_00077 |
1.A.72.3.1 |
75.3 |
2.3e-26 |
21 |
101 |
0.8020 |
0.8901 |
1 |
Channels/Pores |
1.A |
α-Type Channels |
1.A.72 |
The Mercuric Ion Pore (Mer) Superfamily |
LGPGPKHL_00078 |
1.A.72.3.1 |
81.9 |
3.5e-50 |
1 |
116 |
1.0000 |
1.2747 |
1 |
Channels/Pores |
1.A |
α-Type Channels |
1.A.72 |
The Mercuric Ion Pore (Mer) Superfamily |
LGPGPKHL_00086 |
3.A.3.6.23 |
91.1 |
0 |
14 |
983 |
0.9868 |
1.0000 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.3 |
The P-type ATPase (P-ATPase) Superfamily |
LGPGPKHL_00088 |
2.A.4.4.7 |
87.1 |
2.4e-89 |
1 |
209 |
0.9905 |
0.9905 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.4 |
The Cation Diffusion Facilitator (CDF) Family |
LGPGPKHL_00532 |
2.A.23.1.3 |
77.1 |
6.3e-175 |
10 |
429 |
0.8917 |
0.9459 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.23 |
The Dicarboxylate/Amino Acid:Cation (Na+ or H+) Symporter (DAACS) Family |
LGPGPKHL_00589 |
2.A.1.6.11 |
73.2 |
6.1e-233 |
13 |
572 |
0.9790 |
0.9819 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |