Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C661 |
Reference Plasmid |
NZ_CP043848.1 |
Reference Plasmid Size |
54321 |
Reference Plasmid GC Content |
0.28 |
Reference Plasmid Mobility Type |
non-mobilizable |
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 |
M0096575 |
NDEKKGLH_00006 |
5056 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2224A>G |
None |
M0096576 |
NDEKKGLH_00006 |
5200 |
10 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2368A>G |
None |
M0096577 |
NDEKKGLH_00006 |
5267 |
10 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2435A>G |
None |
M0096578 |
NDEKKGLH_00006 |
6488 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3656G>A |
None |
M0096579 |
NDEKKGLH_00012 |
6513 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Val179Val |
M0096580 |
NDEKKGLH_00012 |
6564 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
486A>T |
Gly162Gly |
M0096581 |
NDEKKGLH_00012 |
6567 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Thr161Thr |
M0096582 |
NDEKKGLH_00012 |
6590 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
460T>C |
Leu154Leu |
M0096583 |
NDEKKGLH_00012 |
6591 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Phe153Phe |
M0096584 |
NDEKKGLH_00012 |
6624 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
426A>C |
Pro142Pro |
M0096585 |
NDEKKGLH_00012 |
6633 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Gly139Gly |
M0096586 |
NDEKKGLH_00012 |
6645 |
11 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
405A>G |
Gly135Gly |
M0096587 |
NDEKKGLH_00012 |
6651 |
11 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Ala133Ala |
M0096588 |
NDEKKGLH_00012 |
6705 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Leu115Leu |
M0096589 |
NDEKKGLH_00012 |
6711 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339T>A |
Ala113Ala |
M0096590 |
NDEKKGLH_00012 |
6970 |
11 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
80A>G |
Asp27Gly |
M0096591 |
NDEKKGLH_00012 |
7006 |
13 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
44A>G |
Asn15Ser |
M0096592 |
NDEKKGLH_00006 |
7122 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4290C>T |
None |
M0096593 |
NDEKKGLH_00006 |
7257 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4425A>G |
None |
M0096594 |
NDEKKGLH_00006 |
7261 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4429A>G |
None |
M0096595 |
NDEKKGLH_00006 |
7275 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4443A>T |
None |
M0096596 |
NDEKKGLH_00006 |
7276 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4444A>T |
None |
M0096597 |
NDEKKGLH_00006 |
4221 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1389A>G |
None |
M0096598 |
NDEKKGLH_00006 |
4469 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1637A>G |
None |
M0096599 |
NDEKKGLH_00006 |
4474 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1642C>T |
None |
M0096600 |
NDEKKGLH_00006 |
4634 |
13 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1802A>G |
None |
M0096601 |
NDEKKGLH_00006 |
4694 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1862G>A |
None |
M0096602 |
NDEKKGLH_00006 |
4739 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1907T>C |
None |
M0096603 |
NDEKKGLH_00060 |
48235 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4511G>T |
None |
M0096604 |
NDEKKGLH_00060 |
48290 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4566G>A |
None |
M0096605 |
NDEKKGLH_00060 |
48323 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4599T>C |
None |
M0096606 |
NDEKKGLH_00060 |
48349 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4625T>C |
None |
M0096607 |
NDEKKGLH_00060 |
48357 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4633T>C |
None |
M0096608 |
NDEKKGLH_00065 |
49311 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
184A>G |
Ile62Val |
M0096609 |
NDEKKGLH_00066 |
49562 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
220G>A |
Ala74Thr |
M0096610 |
NDEKKGLH_00066 |
49577 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
205T>G |
Ser69Ala |
M0096611 |
NDEKKGLH_00066 |
49602 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Leu60Leu |
M0096612 |
NDEKKGLH_00066 |
49672 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
110A>C |
Asp37Ala |
M0096613 |
NDEKKGLH_00066 |
49713 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Ser23Ser |
M0096614 |
NDEKKGLH_00067 |
49978 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
Ile252Ile |
M0096615 |
NDEKKGLH_00067 |
50011 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Tyr241Tyr |
M0096616 |
NDEKKGLH_00067 |
50086 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
648A>T |
Ile216Ile |
M0096617 |
NDEKKGLH_00067 |
50087 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
647T>C |
Ile216Thr |
M0096618 |
NDEKKGLH_00067 |
50100 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
634C>A |
Gln212Lys |
M0096619 |
NDEKKGLH_00067 |
50124 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
610T>C |
Ser204Pro |
M0096620 |
NDEKKGLH_00067 |
50147 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
587A>G |
Asn196Ser |
M0096621 |
NDEKKGLH_00067 |
50178 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
556C>A |
His186Asn |
M0096622 |
NDEKKGLH_00058 |
44415 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1867C>T |
None |
M0096623 |
NDEKKGLH_00058 |
44425 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1877T>C |
None |
M0096624 |
NDEKKGLH_00058 |
44430 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1882A>G |
None |
M0096625 |
NDEKKGLH_00058 |
44498 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1950G>A |
None |
M0096626 |
NDEKKGLH_00058 |
44553 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2005T>G |
None |
M0096627 |
NDEKKGLH_00058 |
44632 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2084A>G |
None |
M0096628 |
NDEKKGLH_00058 |
44636 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2088A>G |
None |
M0096629 |
NDEKKGLH_00058 |
44839 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2291G>A |
None |
M0096630 |
NDEKKGLH_00058 |
44898 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2350C>T |
None |
M0096631 |
NDEKKGLH_00058 |
44965 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2417C>T |
None |
M0096632 |
NDEKKGLH_00058 |
45034 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2486G>A |
None |
M0096633 |
NDEKKGLH_00058 |
45051 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2503A>G |
None |
M0096634 |
NDEKKGLH_00058 |
45088 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2540T>G |
None |
M0096635 |
NDEKKGLH_00015 |
8815 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
147C>A |
Ser49Arg |
M0096636 |
NDEKKGLH_00015 |
8850 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
112T>C |
Ser38Pro |
M0096637 |
NDEKKGLH_00015 |
8890 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
72G>T |
Lys24Asn |
M0096638 |
NDEKKGLH_00015 |
8937 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
25T>C |
Ser9Pro |
M0096639 |
NDEKKGLH_00015 |
8952 |
4 |
Skin |
0.06 |
protein_coding |
stop_gained |
HIGH |
10C>T |
Arg4* |
M0096640 |
NDEKKGLH_00015 |
8953 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Gly3Gly |
M0096641 |
NDEKKGLH_00015 |
8955 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
7G>A |
Gly3Arg |
M0096642 |
NDEKKGLH_00016 |
9258 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1228A>T |
Asn410Tyr |
M0096643 |
NDEKKGLH_00016 |
9441 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1045G>A |
Glu349Lys |
M0096644 |
NDEKKGLH_00016 |
9443 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1043A>G |
Asp348Gly |
M0096645 |
NDEKKGLH_00016 |
9446 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1040G>A |
Gly347Glu |
M0096646 |
NDEKKGLH_00016 |
9447 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1039G>A |
Gly347Arg |
M0096647 |
NDEKKGLH_00017 |
10729 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
762C>T |
Asn254Asn |
M0096648 |
NDEKKGLH_00017 |
10990 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Asp167Asp |
M0096649 |
NDEKKGLH_00006 |
3766 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-934G>T |
None |
M0096650 |
NDEKKGLH_00006 |
3803 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-971T>G |
None |
M0096651 |
NDEKKGLH_00006 |
3844 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1012T>C |
None |
M0096652 |
NDEKKGLH_00006 |
3869 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1037T>C |
None |
M0096653 |
NDEKKGLH_00006 |
3885 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1053A>G |
None |
M0096654 |
NDEKKGLH_00006 |
3975 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1143G>A |
None |
M0096655 |
NDEKKGLH_00006 |
4015 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1183A>C |
None |
M0096656 |
NDEKKGLH_00006 |
4020 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1188G>A |
None |
M0096657 |
NDEKKGLH_00006 |
4613 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1781C>A |
None |
M0096658 |
NDEKKGLH_00006 |
4678 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1846G>T |
None |
M0096659 |
NDEKKGLH_00006 |
4843 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2011G>A |
None |
M0096660 |
NDEKKGLH_00006 |
5055 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2223G>T |
None |
M0096661 |
NDEKKGLH_00006 |
5313 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2481G>A |
None |
M0096662 |
NDEKKGLH_00006 |
5322 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2490C>A |
None |
M0096663 |
NDEKKGLH_00006 |
5327 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2495G>T |
None |
M0096664 |
NDEKKGLH_00010 |
5803 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
192A>G |
Ile64Met |
M0096665 |
NDEKKGLH_00006 |
6164 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3332C>T |
None |
M0096666 |
NDEKKGLH_00011 |
6346 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
17A>G |
Glu6Gly |
M0096667 |
NDEKKGLH_00011 |
6354 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
9G>A |
Gln3Gln |
M0096668 |
NDEKKGLH_00011 |
6357 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Thr2Thr |
M0096669 |
NDEKKGLH_00006 |
6368 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3536G>T |
None |
M0096670 |
NDEKKGLH_00006 |
6374 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3542C>T |
None |
M0096671 |
NDEKKGLH_00012 |
6744 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
306A>T |
Gly102Gly |
M0096672 |
NDEKKGLH_00012 |
6756 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Lys98Lys |
M0096673 |
NDEKKGLH_00012 |
6759 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
291T>A |
Thr97Thr |
M0096674 |
NDEKKGLH_00012 |
6783 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gln89Gln |
M0096675 |
NDEKKGLH_00012 |
6792 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ile86Ile |
M0096676 |
NDEKKGLH_00012 |
6795 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0096677 |
NDEKKGLH_00012 |
6801 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Asn83Asn |
M0096678 |
NDEKKGLH_00012 |
6819 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Leu77Leu |
M0096679 |
NDEKKGLH_00012 |
6831 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Gln73Gln |
M0096680 |
NDEKKGLH_00012 |
6837 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Thr71Thr |
M0096681 |
NDEKKGLH_00012 |
6852 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Arg66Arg |
M0096682 |
NDEKKGLH_00012 |
6883 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
167G>A |
Gly56Glu |
M0096683 |
NDEKKGLH_00012 |
6897 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Glu51Glu |
M0096684 |
NDEKKGLH_00012 |
6923 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
127A>C |
Arg43Arg |
M0096685 |
NDEKKGLH_00012 |
6927 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Thr41Thr |
M0096686 |
NDEKKGLH_00012 |
6928 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
122C>T |
Thr41Met |
M0096687 |
NDEKKGLH_00012 |
6985 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
65C>T |
Thr22Ile |
M0096688 |
NDEKKGLH_00012 |
7032 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Tyr6Tyr |
M0096689 |
NDEKKGLH_00016 |
10297 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
189A>T |
Thr63Thr |
M0096690 |
NDEKKGLH_00053 |
36747 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Gly145Gly |
M0096691 |
NDEKKGLH_00053 |
36757 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Ile149Val |
M0096692 |
NDEKKGLH_00053 |
36795 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Asn161Asn |
M0096693 |
NDEKKGLH_00053 |
36796 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
484G>A |
Glu162Lys |
M0096694 |
NDEKKGLH_00053 |
36867 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
555C>A |
Asn185Lys |
M0096695 |
NDEKKGLH_00053 |
36891 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Asn193Asn |
M0096696 |
NDEKKGLH_00053 |
36924 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Lys204Lys |
M0096697 |
NDEKKGLH_00053 |
36960 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
648A>G |
Ile216Met |
M0096698 |
NDEKKGLH_00053 |
36967 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
655T>C |
Tyr219His |
M0096699 |
NDEKKGLH_00053 |
36987 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Phe225Phe |
M0096700 |
NDEKKGLH_00053 |
36989 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
677T>C |
Ile226Thr |
M0096701 |
NDEKKGLH_00053 |
37080 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Ala256Ala |
M0096702 |
NDEKKGLH_00053 |
37103 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
791G>A |
Ser264Asn |
M0096703 |
NDEKKGLH_00053 |
37115 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
803A>C |
Asn268Thr |
M0096704 |
NDEKKGLH_00053 |
37144 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
832A>G |
Ile278Val |
M0096705 |
NDEKKGLH_00053 |
37155 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
Thr281Thr |
M0096706 |
NDEKKGLH_00053 |
37206 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
894T>C |
Cys298Cys |
M0096707 |
NDEKKGLH_00053 |
37242 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Gly310Gly |
M0096708 |
NDEKKGLH_00053 |
37257 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Ala315Ala |
M0096709 |
NDEKKGLH_00053 |
37281 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
969C>T |
Phe323Phe |
M0096710 |
NDEKKGLH_00053 |
37283 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
971A>G |
Lys324Arg |
M0096711 |
NDEKKGLH_00053 |
37288 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
976A>G |
Asn326Asp |
M0096712 |
NDEKKGLH_00053 |
37308 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
996G>A |
Val332Val |
M0096713 |
NDEKKGLH_00054 |
37338 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Asn5Asp |
M0096714 |
NDEKKGLH_00054 |
37367 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Gly14Gly |
M0096715 |
NDEKKGLH_00054 |
37397 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Pro24Pro |
M0096716 |
NDEKKGLH_00054 |
37400 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
75T>A |
Ile25Ile |
M0096717 |
NDEKKGLH_00054 |
37418 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
93G>T |
Glu31Asp |
M0096718 |
NDEKKGLH_00054 |
37424 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Leu33Leu |
M0096719 |
NDEKKGLH_00054 |
37440 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
115A>G |
Ile39Val |
M0096720 |
NDEKKGLH_00054 |
37443 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Val40Ile |
M0096721 |
NDEKKGLH_00054 |
37477 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
152G>A |
Ser51Asn |
M0096722 |
NDEKKGLH_00054 |
37478 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
153T>G |
Ser51Arg |
M0096723 |
NDEKKGLH_00054 |
37548 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Thr75Ala |
M0096724 |
NDEKKGLH_00054 |
37553 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Asp76Asp |
M0096725 |
NDEKKGLH_00054 |
37628 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Glu101Glu |
M0096726 |
NDEKKGLH_00054 |
37637 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
312G>A |
Met104Ile |
M0096727 |
NDEKKGLH_00054 |
37688 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Lys121Lys |
M0096728 |
NDEKKGLH_00054 |
37704 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
379A>G |
Lys127Glu |
M0096729 |
NDEKKGLH_00054 |
37712 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Gly129Gly |
M0096730 |
NDEKKGLH_00054 |
37718 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
393G>T |
Pro131Pro |
M0096731 |
NDEKKGLH_00054 |
37759 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
434T>C |
Val145Ala |
M0096732 |
NDEKKGLH_00054 |
37763 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Asn146Asn |
M0096733 |
NDEKKGLH_00054 |
37808 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
483T>A |
Ile161Ile |
M0096734 |
NDEKKGLH_00054 |
37817 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
492G>A |
Pro164Pro |
M0096735 |
NDEKKGLH_00054 |
37821 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
496A>G |
Ile166Val |
M0096736 |
NDEKKGLH_00054 |
37931 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
606A>T |
Ala202Ala |
M0096737 |
NDEKKGLH_00054 |
37952 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
Asp209Asp |
M0096738 |
NDEKKGLH_00054 |
37957 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
632T>C |
Val211Ala |
M0096739 |
NDEKKGLH_00054 |
37973 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Ser216Ser |
M0096740 |
NDEKKGLH_00054 |
37974 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
649A>G |
Asn217Asp |
M0096741 |
NDEKKGLH_00054 |
37994 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Asp223Asp |
M0096742 |
NDEKKGLH_00054 |
38135 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
810C>T |
Asp270Asp |
M0096743 |
NDEKKGLH_00054 |
38138 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
813A>T |
Ala271Ala |
M0096744 |
NDEKKGLH_00054 |
38149 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
824C>A |
Ala275Asp |
M0096745 |
NDEKKGLH_00054 |
38180 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Val285Val |
M0096746 |
NDEKKGLH_00054 |
38194 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
869G>A |
Ser290Asn |
M0096747 |
NDEKKGLH_00054 |
38195 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
870T>C |
Ser290Ser |
M0096748 |
NDEKKGLH_00054 |
38296 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
971C>A |
Thr324Asn |
M0096749 |
NDEKKGLH_00054 |
38344 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1019A>C |
Lys340Thr |
M0096750 |
NDEKKGLH_00054 |
38364 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1039G>A |
Ala347Thr |
M0096751 |
NDEKKGLH_00054 |
38425 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1100C>T |
Ser367Phe |
M0096752 |
NDEKKGLH_00054 |
38441 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1116T>C |
Val372Val |
M0096753 |
NDEKKGLH_00054 |
38552 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1227A>G |
Gly409Gly |
M0096754 |
NDEKKGLH_00054 |
38655 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1330G>A |
Val444Ile |
M0096755 |
NDEKKGLH_00054 |
38673 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1348A>G |
Ile450Val |
M0096756 |
NDEKKGLH_00054 |
38693 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1368A>G |
Lys456Lys |
M0096757 |
NDEKKGLH_00054 |
38720 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1395C>T |
Asp465Asp |
M0096758 |
NDEKKGLH_00054 |
38868 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1543A>G |
Asn515Asp |
M0096759 |
NDEKKGLH_00054 |
38885 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1560A>T |
Ile520Ile |
M0096760 |
NDEKKGLH_00054 |
38886 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1561C>T |
Leu521Leu |
M0096761 |
NDEKKGLH_00054 |
38900 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1575G>A |
Gln525Gln |
M0096762 |
NDEKKGLH_00054 |
38903 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1578A>G |
Gly526Gly |
M0096763 |
NDEKKGLH_00054 |
38918 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1593G>A |
Arg531Arg |
M0096764 |
NDEKKGLH_00054 |
38957 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1632G>A |
Lys544Lys |
M0096765 |
NDEKKGLH_00054 |
38966 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1641A>C |
Gly547Gly |
M0096766 |
NDEKKGLH_00054 |
39039 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1714C>A |
Pro572Thr |
M0096767 |
NDEKKGLH_00054 |
39040 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1715C>A |
Pro572Gln |
M0096768 |
NDEKKGLH_00054 |
39077 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1752C>T |
Asp584Asp |
M0096769 |
NDEKKGLH_00054 |
39110 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1785A>G |
Glu595Glu |
M0096770 |
NDEKKGLH_00054 |
39125 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1800C>T |
Asn600Asn |
M0096771 |
NDEKKGLH_00054 |
39129 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1804G>A |
Val602Ile |
M0096772 |
NDEKKGLH_00054 |
39143 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1818C>T |
Ser606Ser |
M0096773 |
NDEKKGLH_00055 |
39206 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
29C>A |
Thr10Asn |
M0096774 |
NDEKKGLH_00055 |
39276 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Gly33Gly |
M0096775 |
NDEKKGLH_00055 |
39360 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Ser61Ser |
M0096776 |
NDEKKGLH_00055 |
39367 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
190C>T |
Leu64Leu |
M0096777 |
NDEKKGLH_00055 |
39388 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Ile |
M0096778 |
NDEKKGLH_00055 |
39408 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
231G>C |
Lys77Asn |
M0096779 |
NDEKKGLH_00055 |
39435 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
258C>A |
Asp86Glu |
M0096780 |
NDEKKGLH_00055 |
39489 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Thr104Thr |
M0096781 |
NDEKKGLH_00055 |
39498 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Leu107Leu |
M0096782 |
NDEKKGLH_00055 |
39519 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
342A>T |
Gly114Gly |
M0096783 |
NDEKKGLH_00055 |
39526 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
349T>A |
Leu117Ile |
M0096784 |
NDEKKGLH_00055 |
39528 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Leu117Leu |
M0096785 |
NDEKKGLH_00055 |
39546 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
369T>C |
Ile123Ile |
M0096786 |
NDEKKGLH_00055 |
39639 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ser154Ser |
M0096787 |
NDEKKGLH_00055 |
39645 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
His156His |
M0096788 |
NDEKKGLH_00055 |
39654 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Ser159Ser |
M0096789 |
NDEKKGLH_00055 |
39681 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Asn168Asn |
M0096790 |
NDEKKGLH_00055 |
39687 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Gly170Gly |
M0096791 |
NDEKKGLH_00050 |
34192 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
649A>G |
Lys217Glu |
M0096792 |
NDEKKGLH_00050 |
34201 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
658G>A |
Val220Ile |
M0096793 |
NDEKKGLH_00050 |
34216 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
673G>A |
Val225Ile |
M0096794 |
NDEKKGLH_00050 |
34230 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Asp229Asp |
M0096795 |
NDEKKGLH_00050 |
34252 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
709T>C |
Leu237Leu |
M0096796 |
NDEKKGLH_00050 |
34269 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
726A>T |
Lys242Asn |
M0096797 |
NDEKKGLH_00050 |
34329 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Ile262Ile |
M0096798 |
NDEKKGLH_00050 |
34357 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
814T>G |
Ser272Ala |
M0096799 |
NDEKKGLH_00051 |
34394 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
10T>C |
Leu4Leu |
M0096800 |
NDEKKGLH_00051 |
34432 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Ser16Ser |
M0096801 |
NDEKKGLH_00051 |
34492 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108T>A |
Gly36Gly |
M0096802 |
NDEKKGLH_00051 |
34533 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
149C>T |
Ala50Val |
M0096803 |
NDEKKGLH_00051 |
34549 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
165C>A |
Gly55Gly |
M0096804 |
NDEKKGLH_00051 |
34642 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Gln86Gln |
M0096805 |
NDEKKGLH_00051 |
34646 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
262T>C |
Leu88Leu |
M0096806 |
NDEKKGLH_00051 |
34664 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
280T>C |
Ser94Pro |
M0096807 |
NDEKKGLH_00051 |
34665 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
281C>G |
Ser94Cys |
M0096808 |
NDEKKGLH_00051 |
34667 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
283C>T |
His95Tyr |
M0096809 |
NDEKKGLH_00051 |
34676 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Ile98Val |
M0096810 |
NDEKKGLH_00051 |
34702 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
His106His |
M0096811 |
NDEKKGLH_00051 |
34801 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Ala139Ala |
M0096812 |
NDEKKGLH_00051 |
34802 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
418G>A |
Val140Ile |
M0096813 |
NDEKKGLH_00051 |
34816 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Asn144Asn |
M0096814 |
NDEKKGLH_00051 |
34879 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
495C>A |
Thr165Thr |
M0096815 |
NDEKKGLH_00051 |
34902 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
518G>A |
Gly173Asp |
M0096816 |
NDEKKGLH_00051 |
34920 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
536A>T |
Glu179Val |
M0096817 |
NDEKKGLH_00051 |
34969 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Lys195Lys |
M0096818 |
NDEKKGLH_00052 |
35134 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Glu46Glu |
M0096819 |
NDEKKGLH_00052 |
35164 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Ser56Ser |
M0096820 |
NDEKKGLH_00052 |
35176 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Glu60Glu |
M0096821 |
NDEKKGLH_00052 |
35198 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Asn68Asp |
M0096822 |
NDEKKGLH_00052 |
35203 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Lys69Lys |
M0096823 |
NDEKKGLH_00052 |
35221 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
225A>C |
Gly75Gly |
M0096824 |
NDEKKGLH_00052 |
35233 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Ala79Ala |
M0096825 |
NDEKKGLH_00052 |
35275 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Leu93Leu |
M0096826 |
NDEKKGLH_00052 |
35318 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
322G>A |
Gly108Arg |
M0096827 |
NDEKKGLH_00052 |
35319 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
323G>A |
Gly108Glu |
M0096828 |
NDEKKGLH_00052 |
35387 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
391G>A |
Asp131Asn |
M0096829 |
NDEKKGLH_00052 |
35392 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Pro132Pro |
M0096830 |
NDEKKGLH_00052 |
35419 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Lys141Lys |
M0096831 |
NDEKKGLH_00052 |
35437 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
441A>T |
Thr147Thr |
M0096832 |
NDEKKGLH_00052 |
35527 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Leu177Leu |
M0096833 |
NDEKKGLH_00052 |
35554 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
558G>A |
Ala186Ala |
M0096834 |
NDEKKGLH_00052 |
35557 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
His187His |
M0096835 |
NDEKKGLH_00052 |
35584 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Cys196Cys |
M0096836 |
NDEKKGLH_00052 |
35674 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Lys226Lys |
M0096837 |
NDEKKGLH_00052 |
35719 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
723G>A |
Gln241Gln |
M0096838 |
NDEKKGLH_00052 |
35749 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
753T>A |
Ala251Ala |
M0096839 |
NDEKKGLH_00052 |
35779 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
783A>G |
Leu261Leu |
M0096840 |
NDEKKGLH_00052 |
35837 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
841G>A |
Asp281Asn |
M0096841 |
NDEKKGLH_00052 |
35852 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
856G>A |
Val286Ile |
M0096842 |
NDEKKGLH_00052 |
35857 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
861G>T |
Pro287Pro |
M0096843 |
NDEKKGLH_00052 |
35863 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
867A>G |
Leu289Leu |
M0096844 |
NDEKKGLH_00052 |
35864 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
868G>A |
Val290Ile |
M0096845 |
NDEKKGLH_00052 |
35866 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Val290Val |
M0096846 |
NDEKKGLH_00052 |
35870 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
874G>A |
Glu292Lys |
M0096847 |
NDEKKGLH_00052 |
35914 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Asn306Asn |
M0096848 |
NDEKKGLH_00052 |
35923 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
927A>G |
Leu309Leu |
M0096849 |
NDEKKGLH_00052 |
35932 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Phe312Phe |
M0096850 |
NDEKKGLH_00052 |
35950 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Tyr318Tyr |
M0096851 |
NDEKKGLH_00046 |
31027 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Glu139Glu |
M0096852 |
NDEKKGLH_00046 |
31048 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Tyr146Tyr |
M0096853 |
NDEKKGLH_00046 |
31051 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Asn147Asn |
M0096854 |
NDEKKGLH_00046 |
31135 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Leu175Leu |
M0096855 |
NDEKKGLH_00046 |
31154 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
544C>T |
His182Tyr |
M0096856 |
NDEKKGLH_00046 |
31158 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
548C>A |
Ala183Asp |
M0096857 |
NDEKKGLH_00047 |
31188 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
34T>C |
Leu12Leu |
M0096858 |
NDEKKGLH_00047 |
31241 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Val29Val |
M0096859 |
NDEKKGLH_00047 |
31250 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Asn32Asn |
M0096860 |
NDEKKGLH_00047 |
31265 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Asp37Asp |
M0096861 |
NDEKKGLH_00047 |
31409 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
255G>T |
Met85Ile |
M0096862 |
NDEKKGLH_00047 |
31412 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Leu86Leu |
M0096863 |
NDEKKGLH_00047 |
31425 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
271A>G |
Thr91Ala |
M0096864 |
NDEKKGLH_00047 |
31433 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
279T>G |
Ser93Ser |
M0096865 |
NDEKKGLH_00047 |
31440 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Ile96Val |
M0096866 |
NDEKKGLH_00047 |
31448 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Gly98Gly |
M0096867 |
NDEKKGLH_00047 |
31508 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Tyr118Tyr |
M0096868 |
NDEKKGLH_00047 |
31514 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Ala120Ala |
M0096869 |
NDEKKGLH_00047 |
31523 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Arg123Arg |
M0096870 |
NDEKKGLH_00047 |
31532 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
378G>T |
Val126Val |
M0096871 |
NDEKKGLH_00047 |
31546 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
392A>T |
Gln131Leu |
M0096872 |
NDEKKGLH_00047 |
31556 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Gln134Gln |
M0096873 |
NDEKKGLH_00047 |
31625 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Ser157Ser |
M0096874 |
NDEKKGLH_00047 |
31655 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Thr167Thr |
M0096875 |
NDEKKGLH_00047 |
31669 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
515C>T |
Thr172Ile |
M0096876 |
NDEKKGLH_00047 |
31731 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
577G>A |
Val193Ile |
M0096877 |
NDEKKGLH_00047 |
31761 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
607T>C |
Leu203Leu |
M0096878 |
NDEKKGLH_00047 |
31781 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Leu209Leu |
M0096879 |
NDEKKGLH_00047 |
31826 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Gly224Gly |
M0096880 |
NDEKKGLH_00047 |
31883 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
729T>G |
Gly243Gly |
M0096881 |
NDEKKGLH_00047 |
31913 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
759T>A |
Ser253Ser |
M0096882 |
NDEKKGLH_00047 |
31995 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
841G>A |
Val281Ile |
M0096883 |
NDEKKGLH_00047 |
32009 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
855G>A |
Leu285Leu |
M0096884 |
NDEKKGLH_00047 |
32030 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
876A>T |
Ile292Ile |
M0096885 |
NDEKKGLH_00047 |
32031 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
877G>A |
Val293Ile |
M0096886 |
NDEKKGLH_00047 |
32073 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
919C>A |
Leu307Ile |
M0096887 |
NDEKKGLH_00047 |
32084 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Leu310Leu |
M0096888 |
NDEKKGLH_00047 |
32108 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Gly318Gly |
M0096889 |
NDEKKGLH_00047 |
32211 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1057C>T |
Leu353Leu |
M0096890 |
NDEKKGLH_00047 |
32219 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Leu355Leu |
M0096891 |
NDEKKGLH_00047 |
32237 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1083G>A |
Pro361Pro |
M0096892 |
NDEKKGLH_00047 |
32246 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1092A>G |
Gly364Gly |
M0096893 |
NDEKKGLH_00047 |
32247 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1093G>A |
Glu365Lys |
M0096894 |
NDEKKGLH_00047 |
32292 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1138C>T |
Leu380Leu |
M0096895 |
NDEKKGLH_00047 |
32304 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1150A>T |
Ile384Leu |
M0096896 |
NDEKKGLH_00047 |
32321 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1167A>G |
Ile389Met |
M0096897 |
NDEKKGLH_00047 |
32327 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1173G>A |
Met391Ile |
M0096898 |
NDEKKGLH_00047 |
32328 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1174C>T |
Leu392Leu |
M0096899 |
NDEKKGLH_00047 |
32336 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Asn394Asn |
M0096900 |
NDEKKGLH_00042 |
32377 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4255T>G |
None |
M0096901 |
NDEKKGLH_00048 |
32469 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
707C>T |
Thr236Ile |
M0096902 |
NDEKKGLH_00048 |
32471 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Leu235Leu |
M0096903 |
NDEKKGLH_00048 |
32474 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Arg234Arg |
M0096904 |
NDEKKGLH_00048 |
32516 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Asn220Asn |
M0096905 |
NDEKKGLH_00048 |
32522 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Leu218Leu |
M0096906 |
NDEKKGLH_00048 |
32556 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
620G>A |
Ser207Asn |
M0096907 |
NDEKKGLH_00048 |
32572 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
604G>A |
Glu202Lys |
M0096908 |
NDEKKGLH_00048 |
32615 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Ser187Ser |
M0096909 |
NDEKKGLH_00048 |
32640 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
536G>A |
Arg179Lys |
M0096910 |
NDEKKGLH_00048 |
32660 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Ile172Ile |
M0096911 |
NDEKKGLH_00048 |
32667 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
509C>T |
Thr170Ile |
M0096912 |
NDEKKGLH_00048 |
32669 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Arg169Arg |
M0096913 |
NDEKKGLH_00048 |
32678 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Glu166Glu |
M0096914 |
NDEKKGLH_00048 |
32689 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
487T>C |
Tyr163His |
M0096915 |
NDEKKGLH_00048 |
32699 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Glu159Glu |
M0096916 |
NDEKKGLH_00048 |
32734 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
442C>T |
Leu148Phe |
M0096917 |
NDEKKGLH_00048 |
32756 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Thr140Thr |
M0096918 |
NDEKKGLH_00048 |
32768 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Lys136Lys |
M0096919 |
NDEKKGLH_00048 |
32797 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
379A>C |
Asn127His |
M0096920 |
NDEKKGLH_00048 |
32808 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
368G>T |
Arg123Leu |
M0096921 |
NDEKKGLH_00048 |
32830 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
346A>T |
Ile116Leu |
M0096922 |
NDEKKGLH_00048 |
32846 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Leu110Leu |
M0096923 |
NDEKKGLH_00048 |
32848 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
328T>C |
Leu110Leu |
M0096924 |
NDEKKGLH_00048 |
32855 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
321G>T |
Met107Ile |
M0096925 |
NDEKKGLH_00048 |
32864 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Lys104Lys |
M0096926 |
NDEKKGLH_00048 |
32888 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Lys96Lys |
M0096927 |
NDEKKGLH_00048 |
32909 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267C>A |
Thr89Thr |
M0096928 |
NDEKKGLH_00048 |
32924 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252A>T |
Ser84Ser |
M0096929 |
NDEKKGLH_00048 |
32933 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Asn81Asn |
M0096930 |
NDEKKGLH_00048 |
32975 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Ser67Ser |
M0096931 |
NDEKKGLH_00048 |
32983 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
193T>C |
Ser65Pro |
M0096932 |
NDEKKGLH_00048 |
33010 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
166C>T |
His56Tyr |
M0096933 |
NDEKKGLH_00048 |
33067 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
109C>T |
Leu37Phe |
M0096934 |
NDEKKGLH_00048 |
33069 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
107C>A |
Thr36Asn |
M0096935 |
NDEKKGLH_00048 |
33086 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Lys30Lys |
M0096936 |
NDEKKGLH_00048 |
33125 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Gln17Gln |
M0096937 |
NDEKKGLH_00048 |
33166 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
10A>C |
Ile4Leu |
M0096938 |
NDEKKGLH_00043 |
33197 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4381G>A |
None |
M0096939 |
NDEKKGLH_00043 |
33207 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4391A>G |
None |
M0096940 |
NDEKKGLH_00043 |
33216 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4400C>T |
None |
M0096941 |
NDEKKGLH_00043 |
33223 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4407C>T |
None |
M0096942 |
NDEKKGLH_00043 |
33240 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4424C>T |
None |
M0096943 |
NDEKKGLH_00043 |
33241 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4425A>T |
None |
M0096944 |
NDEKKGLH_00043 |
33244 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4428A>T |
None |
M0096945 |
NDEKKGLH_00043 |
33252 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4436G>A |
None |
M0096946 |
NDEKKGLH_00043 |
33256 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4440G>T |
None |
M0096947 |
NDEKKGLH_00043 |
33281 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4465T>C |
None |
M0096948 |
NDEKKGLH_00043 |
33300 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4484G>T |
None |
M0096949 |
NDEKKGLH_00043 |
33313 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4497G>T |
None |
M0096950 |
NDEKKGLH_00049 |
33397 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
30A>G |
Ser10Ser |
M0096951 |
NDEKKGLH_00049 |
33399 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
32T>C |
Val11Ala |
M0096952 |
NDEKKGLH_00049 |
33415 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Asn16Asn |
M0096953 |
NDEKKGLH_00049 |
33470 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
103C>T |
Leu35Phe |
M0096954 |
NDEKKGLH_00050 |
33617 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
74G>A |
Ser25Asn |
M0096955 |
NDEKKGLH_00050 |
33661 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
118A>G |
Thr40Ala |
M0096956 |
NDEKKGLH_00050 |
33666 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
123C>A |
Asn41Lys |
M0096957 |
NDEKKGLH_00050 |
33714 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
171A>T |
Thr57Thr |
M0096958 |
NDEKKGLH_00050 |
33741 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Glu66Glu |
M0096959 |
NDEKKGLH_00050 |
33769 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
226C>T |
Leu76Phe |
M0096960 |
NDEKKGLH_00050 |
33810 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267G>T |
Ser89Ser |
M0096961 |
NDEKKGLH_00050 |
33939 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
396T>A |
Gly132Gly |
M0096962 |
NDEKKGLH_00050 |
33948 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Ile135Ile |
M0096963 |
NDEKKGLH_00050 |
34003 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
460T>C |
Leu154Leu |
M0096964 |
NDEKKGLH_00050 |
34026 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Phe161Phe |
M0096965 |
NDEKKGLH_00050 |
34037 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
494C>G |
Ala165Gly |
M0096966 |
NDEKKGLH_00050 |
34069 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
526G>A |
Val176Ile |
M0096967 |
NDEKKGLH_00050 |
34071 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Val176Val |
M0096968 |
NDEKKGLH_00050 |
34103 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
560G>A |
Gly187Asp |
M0096969 |
NDEKKGLH_00050 |
34125 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
582G>A |
Met194Ile |
M0096970 |
NDEKKGLH_00050 |
34137 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Lys198Lys |
M0096971 |
NDEKKGLH_00052 |
35986 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
990A>G |
Glu330Glu |
M0096972 |
NDEKKGLH_00052 |
35992 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
996T>G |
Gly332Gly |
M0096973 |
NDEKKGLH_00052 |
35995 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
999A>T |
Ile333Ile |
M0096974 |
NDEKKGLH_00052 |
36016 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Asn340Asn |
M0096975 |
NDEKKGLH_00052 |
36052 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1056A>G |
Lys352Lys |
M0096976 |
NDEKKGLH_00052 |
36081 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1085C>T |
Thr362Ile |
M0096977 |
NDEKKGLH_00052 |
36111 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1115C>A |
Ala372Asp |
M0096978 |
NDEKKGLH_00052 |
36187 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1191G>A |
Val397Val |
M0096979 |
NDEKKGLH_00052 |
36241 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1245T>C |
Asn415Asn |
M0096980 |
NDEKKGLH_00052 |
36269 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1273C>T |
His425Tyr |
M0096981 |
NDEKKGLH_00052 |
36281 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1285C>A |
Gln429Lys |
M0096982 |
NDEKKGLH_00052 |
36290 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1294A>T |
Ile432Phe |
M0096983 |
NDEKKGLH_00052 |
36304 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1308C>T |
Ala436Ala |
M0096984 |
NDEKKGLH_00053 |
36348 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Gly12Gly |
M0096985 |
NDEKKGLH_00053 |
36369 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
57A>G |
Glu19Glu |
M0096986 |
NDEKKGLH_00053 |
36393 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
His27His |
M0096987 |
NDEKKGLH_00053 |
36420 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Ser36Ser |
M0096988 |
NDEKKGLH_00053 |
36469 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Glu53Lys |
M0096989 |
NDEKKGLH_00053 |
36503 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
191A>C |
Asn64Thr |
M0096990 |
NDEKKGLH_00053 |
36537 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
225A>C |
Pro75Pro |
M0096991 |
NDEKKGLH_00053 |
36545 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
233C>T |
Thr78Ile |
M0096992 |
NDEKKGLH_00053 |
36567 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
255C>A |
Asn85Lys |
M0096993 |
NDEKKGLH_00053 |
36568 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Val86Ile |
M0096994 |
NDEKKGLH_00053 |
36606 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
294T>A |
Gly98Gly |
M0096995 |
NDEKKGLH_00053 |
36633 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Leu107Leu |
M0096996 |
NDEKKGLH_00053 |
36652 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
340C>T |
Leu114Leu |
M0096997 |
NDEKKGLH_00053 |
36669 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Lys119Lys |
M0096998 |
NDEKKGLH_00053 |
36670 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
358C>T |
His120Tyr |
M0096999 |
NDEKKGLH_00053 |
36674 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
362G>A |
Ser121Asn |
M0097000 |
NDEKKGLH_00053 |
36675 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ser121Ser |
M0097001 |
NDEKKGLH_00053 |
36678 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Ser122Ser |
M0097002 |
NDEKKGLH_00053 |
36684 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Val124Val |
M0097003 |
NDEKKGLH_00053 |
36705 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Phe131Phe |
M0097004 |
NDEKKGLH_00055 |
39729 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Asp184Asp |
M0097005 |
NDEKKGLH_00055 |
39738 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Lys187Lys |
M0097006 |
NDEKKGLH_00055 |
39747 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
570A>G |
Leu190Leu |
M0097007 |
NDEKKGLH_00055 |
39823 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
646G>T |
Ala216Ser |
M0097008 |
NDEKKGLH_00055 |
39856 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
679G>A |
Val227Ile |
M0097009 |
NDEKKGLH_00055 |
39876 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
699G>A |
Pro233Pro |
M0097010 |
NDEKKGLH_00055 |
39903 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
His242His |
M0097011 |
NDEKKGLH_00055 |
39915 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Ile246Ile |
M0097012 |
NDEKKGLH_00055 |
39920 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
Asn248Ser |
M0097013 |
NDEKKGLH_00055 |
39947 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
770A>G |
Glu257Gly |
M0097014 |
NDEKKGLH_00056 |
40014 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
58C>A |
Pro20Thr |
M0097015 |
NDEKKGLH_00056 |
40015 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
59C>A |
Pro20Gln |
M0097016 |
NDEKKGLH_00056 |
40061 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Lys35Lys |
M0097017 |
NDEKKGLH_00056 |
40076 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
His40His |
M0097018 |
NDEKKGLH_00056 |
40081 |
4 |
Skin |
0.06 |
protein_coding |
stop_gained |
HIGH |
125C>A |
Ser42* |
M0097019 |
NDEKKGLH_00056 |
40118 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Ser54Ser |
M0097020 |
NDEKKGLH_00056 |
40124 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Asp56Asp |
M0097021 |
NDEKKGLH_00056 |
40133 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Ser59Ser |
M0097022 |
NDEKKGLH_00056 |
40140 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
184G>A |
Ala62Thr |
M0097023 |
NDEKKGLH_00056 |
40148 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Gly64Gly |
M0097024 |
NDEKKGLH_00056 |
40193 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Leu79Leu |
M0097025 |
NDEKKGLH_00056 |
40310 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Glu118Glu |
M0097026 |
NDEKKGLH_00056 |
40328 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Ser124Ser |
M0097027 |
NDEKKGLH_00056 |
40349 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
393A>T |
Ile131Ile |
M0097028 |
NDEKKGLH_00056 |
40355 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Cys133Cys |
M0097029 |
NDEKKGLH_00056 |
40358 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Pro134Pro |
M0097030 |
NDEKKGLH_00056 |
40386 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Ile144Val |
M0097031 |
NDEKKGLH_00056 |
40389 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
433A>C |
Arg145Arg |
M0097032 |
NDEKKGLH_00056 |
40394 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Gln146Gln |
M0097033 |
NDEKKGLH_00056 |
40493 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Gly179Gly |
M0097034 |
NDEKKGLH_00056 |
40650 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
694G>A |
Asp232Asn |
M0097035 |
NDEKKGLH_00056 |
40664 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0097036 |
NDEKKGLH_00056 |
40686 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
730G>A |
Glu244Lys |
M0097037 |
NDEKKGLH_00056 |
40691 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
735T>C |
His245His |
M0097038 |
NDEKKGLH_00056 |
40748 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Ile264Ile |
M0097039 |
NDEKKGLH_00056 |
40778 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
His274His |
M0097040 |
NDEKKGLH_00056 |
40784 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
828G>T |
Gly276Gly |
M0097041 |
NDEKKGLH_00056 |
40787 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
831G>A |
Gly277Gly |
M0097042 |
NDEKKGLH_00056 |
40802 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
846A>G |
Val282Val |
M0097043 |
NDEKKGLH_00057 |
40867 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Gln2Gln |
M0097044 |
NDEKKGLH_00057 |
40990 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Gly43Gly |
M0097045 |
NDEKKGLH_00057 |
40999 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Glu46Glu |
M0097046 |
NDEKKGLH_00057 |
41052 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
191G>A |
Arg64Lys |
M0097047 |
NDEKKGLH_00057 |
41092 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
231A>C |
Gly77Gly |
M0097048 |
NDEKKGLH_00057 |
41095 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Leu78Leu |
M0097049 |
NDEKKGLH_00057 |
41098 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Leu79Leu |
M0097050 |
NDEKKGLH_00057 |
41110 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Asp83Asp |
M0097051 |
NDEKKGLH_00057 |
41128 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Thr89Thr |
M0097052 |
NDEKKGLH_00057 |
41200 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Asp113Asp |
M0097053 |
NDEKKGLH_00057 |
41280 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
419G>A |
Ser140Asn |
M0097054 |
NDEKKGLH_00057 |
41281 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
420T>A |
Ser140Arg |
M0097055 |
NDEKKGLH_00057 |
41290 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Asp143Asp |
M0097056 |
NDEKKGLH_00057 |
41422 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Gly187Gly |
M0097057 |
NDEKKGLH_00057 |
41433 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
572G>A |
Arg191Lys |
M0097058 |
NDEKKGLH_00057 |
41435 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
574C>G |
His192Asp |
M0097059 |
NDEKKGLH_00057 |
41545 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
684T>G |
Asn228Lys |
M0097060 |
NDEKKGLH_00057 |
41602 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
741A>C |
Glu247Asp |
M0097061 |
NDEKKGLH_00057 |
41651 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
790A>G |
Asn264Asp |
M0097062 |
NDEKKGLH_00057 |
41656 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
795G>A |
Gly265Gly |
M0097063 |
NDEKKGLH_00057 |
41728 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
867C>T |
Gly289Gly |
M0097064 |
NDEKKGLH_00057 |
41737 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
876C>T |
Ile292Ile |
M0097065 |
NDEKKGLH_00057 |
41756 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
895T>C |
Leu299Leu |
M0097066 |
NDEKKGLH_00057 |
41776 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
915A>T |
Ile305Ile |
M0097067 |
NDEKKGLH_00057 |
41791 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Val310Val |
M0097068 |
NDEKKGLH_00057 |
41803 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
942A>G |
Leu314Leu |
M0097069 |
NDEKKGLH_00057 |
41829 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
968C>A |
Thr323Lys |
M0097070 |
NDEKKGLH_00057 |
41872 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1011T>A |
Asn337Lys |
M0097071 |
NDEKKGLH_00057 |
41878 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1017A>T |
Gly339Gly |
M0097072 |
NDEKKGLH_00057 |
41895 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1034A>G |
His345Arg |
M0097073 |
NDEKKGLH_00057 |
41906 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1045G>A |
Glu349Lys |
M0097074 |
NDEKKGLH_00057 |
41914 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Gln351Gln |
M0097075 |
NDEKKGLH_00057 |
41915 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1054A>G |
Lys352Glu |
M0097076 |
NDEKKGLH_00057 |
41936 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1075G>A |
Val359Ile |
M0097077 |
NDEKKGLH_00057 |
41942 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1081A>C |
Ile361Leu |
M0097078 |
NDEKKGLH_00057 |
41949 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1088T>C |
Ile363Thr |
M0097079 |
NDEKKGLH_00057 |
41970 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1109G>A |
Arg370Lys |
M0097080 |
NDEKKGLH_00057 |
41974 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1113T>C |
Thr371Thr |
M0097081 |
NDEKKGLH_00006 |
6445 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3613A>C |
None |
M0097082 |
NDEKKGLH_00006 |
7340 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4508T>C |
None |
M0097083 |
NDEKKGLH_00016 |
10047 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
439G>A |
Val147Met |
M0097084 |
NDEKKGLH_00058 |
45937 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3389C>T |
None |
M0097085 |
NDEKKGLH_00058 |
46244 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3696G>A |
None |
M0097086 |
NDEKKGLH_00058 |
46290 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3742G>A |
None |
M0097087 |
NDEKKGLH_00058 |
46360 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3812A>G |
None |
M0097088 |
NDEKKGLH_00058 |
46386 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3838T>C |
None |
M0097089 |
NDEKKGLH_00058 |
46419 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3871A>G |
None |
M0097090 |
NDEKKGLH_00058 |
46437 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3889C>T |
None |
M0097091 |
NDEKKGLH_00058 |
46488 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3940C>T |
None |
M0097092 |
NDEKKGLH_00058 |
46564 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4016T>C |
None |
M0097093 |
NDEKKGLH_00058 |
46568 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020C>T |
None |
M0097094 |
NDEKKGLH_00029 |
22959 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4005C>A |
None |
M0097095 |
NDEKKGLH_00029 |
22961 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4007A>G |
None |
M0097096 |
NDEKKGLH_00029 |
22975 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4021T>C |
None |
M0097097 |
NDEKKGLH_00029 |
22978 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4024G>C |
None |
M0097098 |
NDEKKGLH_00029 |
22985 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4031T>C |
None |
M0097099 |
NDEKKGLH_00029 |
22989 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4035C>T |
None |
M0097100 |
NDEKKGLH_00029 |
22999 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4045T>C |
None |
M0097101 |
NDEKKGLH_00029 |
23027 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4073T>C |
None |
M0097102 |
NDEKKGLH_00035 |
23299 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
518G>A |
Arg173Lys |
M0097103 |
NDEKKGLH_00035 |
23408 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
409T>G |
Phe137Val |
M0097104 |
NDEKKGLH_00035 |
23511 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Glu102Glu |
M0097105 |
NDEKKGLH_00035 |
23712 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Val35Val |
M0097106 |
NDEKKGLH_00036 |
23925 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Ile209Ile |
M0097107 |
NDEKKGLH_00036 |
24075 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Pro159Pro |
M0097108 |
NDEKKGLH_00036 |
24159 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
His131His |
M0097109 |
NDEKKGLH_00036 |
24198 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Leu118Leu |
M0097110 |
NDEKKGLH_00036 |
24223 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
329A>C |
Gln110Pro |
M0097111 |
NDEKKGLH_00036 |
24228 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Asn108Asn |
M0097112 |
NDEKKGLH_00036 |
24318 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Ala78Ala |
M0097113 |
NDEKKGLH_00036 |
24392 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Ile54Val |
M0097114 |
NDEKKGLH_00036 |
24432 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Glu40Glu |
M0097115 |
NDEKKGLH_00031 |
24572 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020T>C |
None |
M0097116 |
NDEKKGLH_00031 |
24573 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4021G>A |
None |
M0097117 |
NDEKKGLH_00031 |
24580 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4028C>T |
None |
M0097118 |
NDEKKGLH_00037 |
24653 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Thr23Thr |
M0097119 |
NDEKKGLH_00037 |
24737 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
His51His |
M0097120 |
NDEKKGLH_00031 |
24994 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4442C>T |
None |
M0097121 |
NDEKKGLH_00039 |
25357 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
43C>A |
Pro15Thr |
M0097122 |
NDEKKGLH_00039 |
25390 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Ser26Gly |
M0097123 |
NDEKKGLH_00039 |
25444 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Glu44Lys |
M0097124 |
NDEKKGLH_00041 |
27024 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Ser2Asn |
M0097125 |
NDEKKGLH_00041 |
27027 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
8T>C |
Phe3Ser |
M0097126 |
NDEKKGLH_00041 |
27034 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asn5Asn |
M0097127 |
NDEKKGLH_00041 |
27046 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
27G>A |
Met9Ile |
M0097128 |
NDEKKGLH_00041 |
27055 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36G>T |
Val12Val |
M0097129 |
NDEKKGLH_00041 |
27080 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
61T>A |
Phe21Ile |
M0097130 |
NDEKKGLH_00041 |
27083 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Val22Ile |
M0097131 |
NDEKKGLH_00041 |
27107 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Val30Met |
M0097132 |
NDEKKGLH_00041 |
27170 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
151G>T |
Ala51Ser |
M0097133 |
NDEKKGLH_00041 |
27220 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Glu67Glu |
M0097134 |
NDEKKGLH_00041 |
27235 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Val72Val |
M0097135 |
NDEKKGLH_00041 |
27280 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Ile87Ile |
M0097136 |
NDEKKGLH_00041 |
27292 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
His91His |
M0097137 |
NDEKKGLH_00041 |
27295 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Gly92Gly |
M0097138 |
NDEKKGLH_00041 |
27349 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Gly110Gly |
M0097139 |
NDEKKGLH_00041 |
27403 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Leu128Leu |
M0097140 |
NDEKKGLH_00041 |
27554 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
535A>G |
Lys179Glu |
M0097141 |
NDEKKGLH_00041 |
27622 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Asn201Asn |
M0097142 |
NDEKKGLH_00041 |
27685 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
666G>A |
Lys222Lys |
M0097143 |
NDEKKGLH_00035 |
23442 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
375C>A |
Gly125Gly |
M0097144 |
NDEKKGLH_00031 |
24976 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4424G>A |
None |
M0097145 |
NDEKKGLH_00031 |
25046 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4494C>A |
None |
M0097146 |
NDEKKGLH_00036 |
24003 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
Ile183Ile |
M0097147 |
NDEKKGLH_00036 |
24029 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
523G>A |
Val175Ile |
M0097148 |
NDEKKGLH_00041 |
27437 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
418T>C |
Leu140Leu |
M0097149 |
NDEKKGLH_00041 |
27481 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
His154His |
M0097150 |
NDEKKGLH_00011 |
6267 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Gly32Gly |
M0097151 |
NDEKKGLH_00009 |
5403 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
39C>A |
Phe13Leu |
M0097152 |
NDEKKGLH_00010 |
5627 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Val6Ile |
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 |
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 |
NDEKKGLH_00032 |
PHI:6324 |
StpC |
70.7 |
6.9e-87 |
1 |
229 |
1.0000 |
0.9913 |
birds |
skin infection; food poisoning; respiratory disease |
cysteine protease |
unaffected pathogenicity |
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.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
NDEKKGLH_00016 |
QGY86785.1|GH5 |
100 |
0 |
1 |
423 |
1 |
1 |
NDEKKGLH_00017 |
QGY86786.1|GH46 |
100 |
3.33e-238 |
1 |
329 |
1 |
1 |
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 |
NDEKKGLH_00047 |
2.A.1.62.1 |
79.3 |
2.5e-180 |
1 |
406 |
1.0000 |
1.0000 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |