Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2152 |
Reference Plasmid |
1111525849743460_bin.11__k141_90393 |
Reference Plasmid Size |
301719 |
Reference Plasmid GC Content |
0.65 |
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 |
M0027894 |
CAPGDBCC_00133 |
174702 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4468A>G |
None |
M0027895 |
CAPGDBCC_00140 |
175162 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
424G>A |
Ala142Thr |
M0027896 |
CAPGDBCC_00140 |
175203 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
465G>T |
Arg155Arg |
M0027897 |
CAPGDBCC_00140 |
175371 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Pro211Pro |
M0027898 |
CAPGDBCC_00141 |
175763 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ile104Ile |
M0027899 |
CAPGDBCC_00141 |
175772 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Gly107Gly |
M0027900 |
CAPGDBCC_00141 |
175781 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Val110Val |
M0027901 |
CAPGDBCC_00141 |
175841 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Pro130Pro |
M0027902 |
CAPGDBCC_00141 |
175912 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
461G>C |
Gly154Ala |
M0027903 |
CAPGDBCC_00138 |
176573 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2865T>C |
None |
M0027904 |
CAPGDBCC_00142 |
176995 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Ala96Ala |
M0027905 |
CAPGDBCC_00143 |
177533 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ala29Ala |
M0027906 |
CAPGDBCC_00144 |
178312 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Pro57Pro |
M0027907 |
CAPGDBCC_00144 |
178430 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
289T>C |
Phe97Leu |
M0027908 |
CAPGDBCC_00144 |
178978 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
837A>G |
Pro279Pro |
M0027909 |
CAPGDBCC_00144 |
179149 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1008T>C |
Gly336Gly |
M0027910 |
CAPGDBCC_00145 |
179286 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-31G>A |
None |
M0027911 |
CAPGDBCC_00145 |
179334 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
18T>C |
Arg6Arg |
M0027912 |
CAPGDBCC_00145 |
179366 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
50T>C |
Val17Ala |
M0027913 |
CAPGDBCC_00145 |
179472 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ala52Ala |
M0027914 |
CAPGDBCC_00145 |
179488 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
172G>A |
Ala58Thr |
M0027915 |
CAPGDBCC_00145 |
179967 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
651A>G |
Ile217Met |
M0027916 |
CAPGDBCC_00145 |
180169 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
853C>T |
Leu285Phe |
M0027917 |
CAPGDBCC_00145 |
180361 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1045G>C |
Ala349Pro |
M0027918 |
CAPGDBCC_00145 |
180381 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1065A>C |
Pro355Pro |
M0027919 |
CAPGDBCC_00146 |
180797 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-175T>C |
None |
M0027920 |
CAPGDBCC_00146 |
180854 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-118T>C |
None |
M0027921 |
CAPGDBCC_00146 |
180914 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58G>T |
None |
M0027922 |
CAPGDBCC_00146 |
181032 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Asn21Asp |
M0027923 |
CAPGDBCC_00147 |
181564 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Pro73Pro |
M0027924 |
CAPGDBCC_00147 |
181824 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
479A>G |
Glu160Gly |
M0027925 |
CAPGDBCC_00147 |
182165 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
820T>C |
Ser274Pro |
M0027926 |
CAPGDBCC_00147 |
182365 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Ser340Ser |
M0027927 |
CAPGDBCC_00144 |
183810 |
5 |
Skin |
0.05 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4529A>C |
None |
M0027928 |
CAPGDBCC_00144 |
183820 |
6 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4539T>C |
None |
M0027929 |
CAPGDBCC_00144 |
183833 |
5 |
Skin |
0.05 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4552A>G |
None |
M0027930 |
CAPGDBCC_00073 |
97441 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Pro81Pro |
M0027931 |
CAPGDBCC_00073 |
97554 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
356C>A |
Ala119Glu |
M0027932 |
CAPGDBCC_00073 |
97579 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381T>G |
Ala127Ala |
M0027933 |
CAPGDBCC_00070 |
97692 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4170G>A |
None |
M0027934 |
CAPGDBCC_00070 |
97695 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4173C>T |
None |
M0027935 |
CAPGDBCC_00074 |
98104 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
Thr106Thr |
M0027936 |
CAPGDBCC_00074 |
98110 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
324G>C |
Val108Val |
M0027937 |
CAPGDBCC_00074 |
98140 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Arg118Arg |
M0027938 |
CAPGDBCC_00074 |
98204 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
418C>T |
Leu140Leu |
M0027939 |
CAPGDBCC_00074 |
98311 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Asp175Asp |
M0027940 |
CAPGDBCC_00074 |
98326 |
16 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Arg180Arg |
M0027941 |
CAPGDBCC_00074 |
98368 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Gly194Gly |
M0027942 |
CAPGDBCC_00074 |
98395 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Gly203Gly |
M0027943 |
CAPGDBCC_00074 |
98410 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624C>A |
Pro208Pro |
M0027944 |
CAPGDBCC_00074 |
98425 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Gly213Gly |
M0027945 |
CAPGDBCC_00074 |
98494 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0027946 |
CAPGDBCC_00074 |
98549 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
763C>A |
Gln255Lys |
M0027947 |
CAPGDBCC_00074 |
98558 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
772T>C |
Ser258Pro |
M0027948 |
CAPGDBCC_00074 |
98561 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
775G>A |
Asp259Asn |
M0027949 |
CAPGDBCC_00074 |
98563 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asp259Asp |
M0027950 |
CAPGDBCC_00074 |
98647 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
861C>T |
Asp287Asp |
M0027951 |
CAPGDBCC_00074 |
98665 |
14 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Pro293Pro |
M0027952 |
CAPGDBCC_00074 |
98689 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
903G>A |
Pro301Pro |
M0027953 |
CAPGDBCC_00074 |
98707 |
14 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Cys307Cys |
M0027954 |
CAPGDBCC_00074 |
98879 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1093A>G |
Thr365Ala |
M0027955 |
CAPGDBCC_00074 |
98928 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1142C>A |
Pro381Gln |
M0027956 |
CAPGDBCC_00074 |
98999 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1213G>T |
Val405Phe |
M0027957 |
CAPGDBCC_00071 |
99199 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4862G>A |
None |
M0027958 |
CAPGDBCC_00071 |
99228 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4891T>C |
None |
M0027959 |
CAPGDBCC_00071 |
99335 |
15 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4998A>G |
None |
M0027960 |
CAPGDBCC_00076 |
99361 |
15 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-185A>G |
None |
M0027961 |
CAPGDBCC_00076 |
99363 |
15 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-183C>T |
None |
M0027962 |
CAPGDBCC_00076 |
99366 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-180C>T |
None |
M0027963 |
CAPGDBCC_00076 |
99501 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45A>G |
None |
M0027964 |
CAPGDBCC_00076 |
99519 |
15 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-27T>C |
None |
M0027965 |
CAPGDBCC_00077 |
100041 |
15 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-387C>T |
None |
M0027966 |
CAPGDBCC_00077 |
100070 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-358T>C |
None |
M0027967 |
CAPGDBCC_00077 |
100099 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-329G>T |
None |
M0027968 |
CAPGDBCC_00077 |
100269 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-159G>A |
None |
M0027969 |
CAPGDBCC_00077 |
100712 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Gly95Gly |
M0027970 |
CAPGDBCC_00077 |
100862 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
435G>C |
Thr145Thr |
M0027971 |
CAPGDBCC_00077 |
101291 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Pro288Pro |
M0027972 |
CAPGDBCC_00077 |
101456 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
His343His |
M0027973 |
CAPGDBCC_00077 |
101595 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1168T>C |
Leu390Leu |
M0027974 |
CAPGDBCC_00077 |
101656 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1229A>C |
Gln410Pro |
M0027975 |
CAPGDBCC_00078 |
101939 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82T>C |
None |
M0027976 |
CAPGDBCC_00078 |
101988 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-33C>T |
None |
M0027977 |
CAPGDBCC_00078 |
101993 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-28T>A |
None |
M0027978 |
CAPGDBCC_00078 |
102107 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Thr29Thr |
M0027979 |
CAPGDBCC_00050 |
69922 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
101A>C |
Tyr34Ser |
M0027980 |
CAPGDBCC_00050 |
70019 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
4A>G |
Ile2Val |
M0027981 |
CAPGDBCC_00050 |
70077 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-55G>C |
None |
M0027982 |
CAPGDBCC_00050 |
70079 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-57A>G |
None |
M0027983 |
CAPGDBCC_00050 |
70080 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58G>T |
None |
M0027984 |
CAPGDBCC_00050 |
70104 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82A>G |
None |
M0027985 |
CAPGDBCC_00050 |
70105 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-83C>T |
None |
M0027986 |
CAPGDBCC_00050 |
70110 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-88C>T |
None |
M0027987 |
CAPGDBCC_00050 |
70131 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-109C>T |
None |
M0027988 |
CAPGDBCC_00050 |
70224 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-202C>T |
None |
M0027989 |
CAPGDBCC_00050 |
70324 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-302T>C |
None |
M0027990 |
CAPGDBCC_00051 |
70499 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Ile221Ile |
M0027991 |
CAPGDBCC_00051 |
70541 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
621C>G |
Ala207Ala |
M0027992 |
CAPGDBCC_00051 |
70591 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
571A>G |
Ser191Gly |
M0027993 |
CAPGDBCC_00051 |
70690 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
472T>C |
Leu158Leu |
M0027994 |
CAPGDBCC_00051 |
70856 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ser102Ser |
M0027995 |
CAPGDBCC_00051 |
71002 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
160C>T |
Leu54Leu |
M0027996 |
CAPGDBCC_00052 |
71337 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
613A>G |
Ser205Gly |
M0027997 |
CAPGDBCC_00052 |
71350 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
600A>G |
Lys200Lys |
M0027998 |
CAPGDBCC_00052 |
71360 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
590C>G |
Thr197Arg |
M0027999 |
CAPGDBCC_00052 |
71758 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Arg64Arg |
M0028000 |
CAPGDBCC_00052 |
71788 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162G>T |
Ala54Ala |
M0028001 |
CAPGDBCC_00052 |
71936 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
14A>G |
Asn5Ser |
M0028002 |
CAPGDBCC_00053 |
72531 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
301A>G |
Thr101Ala |
M0028003 |
CAPGDBCC_00053 |
72578 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348C>A |
Ala116Ala |
M0028004 |
CAPGDBCC_00053 |
72581 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Gly117Gly |
M0028005 |
CAPGDBCC_00053 |
72617 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Ala129Ala |
M0028006 |
CAPGDBCC_00053 |
72686 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Ala152Ala |
M0028007 |
CAPGDBCC_00053 |
72830 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600A>G |
Arg200Arg |
M0028008 |
CAPGDBCC_00053 |
72838 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
608A>G |
Gln203Arg |
M0028009 |
CAPGDBCC_00053 |
72857 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
627A>C |
Thr209Thr |
M0028010 |
CAPGDBCC_00053 |
72905 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Thr225Thr |
M0028011 |
CAPGDBCC_00053 |
72935 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ser235Ser |
M0028012 |
CAPGDBCC_00053 |
72941 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Phe237Phe |
M0028013 |
CAPGDBCC_00054 |
73016 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
854C>T |
Pro285Leu |
M0028014 |
CAPGDBCC_00054 |
73064 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
806T>C |
Val269Ala |
M0028015 |
CAPGDBCC_00054 |
73126 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
744A>C |
Val248Val |
M0028016 |
CAPGDBCC_00054 |
73174 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
696G>C |
Gly232Gly |
M0028017 |
CAPGDBCC_00054 |
73192 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Cys226Cys |
M0028018 |
CAPGDBCC_00054 |
73324 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
546G>T |
Arg182Arg |
M0028019 |
CAPGDBCC_00054 |
73330 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Thr180Thr |
M0028020 |
CAPGDBCC_00054 |
73332 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
538A>G |
Thr180Ala |
M0028021 |
CAPGDBCC_00054 |
73336 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Arg178Arg |
M0028022 |
CAPGDBCC_00054 |
73360 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510G>C |
Ala170Ala |
M0028023 |
CAPGDBCC_00054 |
73365 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
505G>A |
Asp169Asn |
M0028024 |
CAPGDBCC_00054 |
73431 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Thr147Ala |
M0028025 |
CAPGDBCC_00054 |
73480 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Ala130Ala |
M0028026 |
CAPGDBCC_00054 |
73489 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Asp127Asp |
M0028027 |
CAPGDBCC_00054 |
73528 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Gly114Gly |
M0028028 |
CAPGDBCC_00074 |
97957 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Ala57Ala |
M0028029 |
CAPGDBCC_00074 |
97959 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
173C>T |
Pro58Leu |
M0028030 |
CAPGDBCC_00074 |
97961 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
175G>A |
Glu59Lys |
M0028031 |
CAPGDBCC_00074 |
97971 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
185A>G |
Asp62Gly |
M0028032 |
CAPGDBCC_00074 |
97976 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
190G>A |
Asp64Asn |
M0028033 |
CAPGDBCC_00074 |
97977 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
191A>G |
Asp64Gly |
M0028034 |
CAPGDBCC_00074 |
97993 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
207A>C |
Ser69Ser |
M0028035 |
CAPGDBCC_00074 |
98530 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Tyr248Tyr |
M0028036 |
CAPGDBCC_00074 |
98846 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1060G>A |
Asp354Asn |
M0028037 |
CAPGDBCC_00074 |
98983 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1197A>G |
Gly399Gly |
M0028038 |
CAPGDBCC_00074 |
98984 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1198G>A |
Val400Ile |
M0028039 |
CAPGDBCC_00076 |
99433 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-113C>T |
None |
M0028040 |
CAPGDBCC_00076 |
99434 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-112T>G |
None |
M0028041 |
CAPGDBCC_00076 |
99435 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-111G>A |
None |
M0028042 |
CAPGDBCC_00076 |
99436 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-110C>T |
None |
M0028043 |
CAPGDBCC_00076 |
99438 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-108G>A |
None |
M0028044 |
CAPGDBCC_00076 |
99444 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-102G>A |
None |
M0028045 |
CAPGDBCC_00076 |
99482 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-64A>G |
None |
M0028046 |
CAPGDBCC_00076 |
99484 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-62G>A |
None |
M0028047 |
CAPGDBCC_00076 |
99542 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4T>C |
None |
M0028048 |
CAPGDBCC_00076 |
99555 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Ala4Thr |
M0028049 |
CAPGDBCC_00076 |
99561 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
16G>C |
Val6Leu |
M0028050 |
CAPGDBCC_00076 |
99617 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72A>C |
Pro24Pro |
M0028051 |
CAPGDBCC_00076 |
99729 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
184G>A |
Glu62Lys |
M0028052 |
CAPGDBCC_00076 |
99731 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Glu62Glu |
M0028053 |
CAPGDBCC_00076 |
100000 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
455A>G |
Asp152Gly |
M0028054 |
CAPGDBCC_00076 |
100007 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Arg154Arg |
M0028055 |
CAPGDBCC_00076 |
100008 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
463A>C |
Thr155Pro |
M0028056 |
CAPGDBCC_00077 |
100631 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
204G>A |
Pro68Pro |
M0028057 |
CAPGDBCC_00078 |
101826 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-195C>A |
None |
M0028058 |
CAPGDBCC_00078 |
102251 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
231C>G |
Arg77Arg |
M0028059 |
CAPGDBCC_00078 |
102914 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
894A>G |
Ala298Ala |
M0028060 |
CAPGDBCC_00112 |
152378 |
3 |
Skin |
0.03 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4761C>T |
None |
M0028061 |
CAPGDBCC_00112 |
152398 |
8 |
Skin |
0.07 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4781T>C |
None |
M0028062 |
CAPGDBCC_00112 |
152439 |
6 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4822C>T |
None |
M0028063 |
CAPGDBCC_00112 |
152487 |
11 |
Skin |
0.10 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4870C>A |
None |
M0028064 |
CAPGDBCC_00142 |
176795 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Ala30Thr |
M0028065 |
CAPGDBCC_00143 |
177936 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
490G>C |
Val164Leu |
M0028066 |
CAPGDBCC_00144 |
178188 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
47G>A |
Arg16Gln |
M0028067 |
CAPGDBCC_00144 |
178502 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
361C>A |
Arg121Ser |
M0028068 |
CAPGDBCC_00145 |
179529 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213C>A |
Gly71Gly |
M0028069 |
CAPGDBCC_00145 |
179610 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Arg98Arg |
M0028070 |
CAPGDBCC_00145 |
179854 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
538C>T |
His180Tyr |
M0028071 |
CAPGDBCC_00145 |
180117 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801C>T |
Leu267Leu |
M0028072 |
CAPGDBCC_00146 |
180811 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-161A>G |
None |
M0028073 |
CAPGDBCC_00146 |
181189 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
218T>C |
Val73Ala |
M0028074 |
CAPGDBCC_00146 |
181201 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
230C>T |
Ala77Val |
M0028075 |
CAPGDBCC_00147 |
181350 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
5C>A |
Thr2Asn |
M0028076 |
CAPGDBCC_00147 |
182062 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Leu239Leu |
M0028077 |
CAPGDBCC_00144 |
183728 |
3 |
Skin |
0.03 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4447C>T |
None |
M0028078 |
CAPGDBCC_00144 |
183917 |
4 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4636C>T |
None |
M0028079 |
CAPGDBCC_00144 |
183940 |
5 |
Skin |
0.05 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4659T>G |
None |
M0028080 |
CAPGDBCC_00144 |
184064 |
6 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4783A>G |
None |
M0028081 |
CAPGDBCC_00144 |
184070 |
6 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4789C>T |
None |
M0028082 |
CAPGDBCC_00148 |
184209 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
414G>A |
Leu138Leu |
M0028083 |
CAPGDBCC_00148 |
184211 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
412T>C |
Leu138Leu |
M0028084 |
CAPGDBCC_00148 |
184272 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Leu117Leu |
M0028085 |
CAPGDBCC_00073 |
97267 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69C>A |
Ala23Ala |
M0028086 |
CAPGDBCC_00073 |
97504 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Pro102Pro |
M0028087 |
CAPGDBCC_00073 |
97506 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
308A>C |
Glu103Ala |
M0028088 |
CAPGDBCC_00073 |
97513 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Pro105Pro |
M0028089 |
CAPGDBCC_00073 |
97619 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
421C>T |
Leu141Leu |
M0028090 |
CAPGDBCC_00073 |
97634 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
436G>A |
Val146Ile |
M0028091 |
CAPGDBCC_00071 |
99207 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4870T>C |
None |
M0028092 |
CAPGDBCC_00077 |
100256 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-172G>T |
None |
M0028093 |
CAPGDBCC_00077 |
101678 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1251T>C |
Pro417Pro |
M0028094 |
CAPGDBCC_00078 |
101709 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-312T>C |
None |
M0028095 |
CAPGDBCC_00078 |
101963 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58A>G |
None |
M0028096 |
CAPGDBCC_00078 |
102142 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
122T>C |
Val41Ala |
M0028097 |
CAPGDBCC_00091 |
126780 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2481T>C |
None |
M0028098 |
CAPGDBCC_00091 |
126820 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2521G>T |
None |
M0028099 |
CAPGDBCC_00096 |
127238 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
392C>T |
Ala131Val |
M0028100 |
CAPGDBCC_00096 |
127311 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
465G>A |
Arg155Arg |
M0028101 |
CAPGDBCC_00096 |
127492 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
646A>G |
Ile216Val |
M0028102 |
CAPGDBCC_00096 |
127493 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
647T>C |
Ile216Thr |
M0028103 |
CAPGDBCC_00050 |
70059 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-37G>T |
None |
M0028104 |
CAPGDBCC_00050 |
70160 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-138T>C |
None |
M0028105 |
CAPGDBCC_00050 |
70247 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-225G>A |
None |
M0028106 |
CAPGDBCC_00050 |
70259 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-237C>T |
None |
M0028107 |
CAPGDBCC_00051 |
70727 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Ser145Ser |
M0028108 |
CAPGDBCC_00051 |
70730 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Gly144Gly |
M0028109 |
CAPGDBCC_00051 |
70733 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Gly143Gly |
M0028110 |
CAPGDBCC_00051 |
70772 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Gly130Gly |
M0028111 |
CAPGDBCC_00051 |
70805 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Gly119Gly |
M0028112 |
CAPGDBCC_00051 |
70838 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Ser108Ser |
M0028113 |
CAPGDBCC_00051 |
70897 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Ile89Val |
M0028114 |
CAPGDBCC_00052 |
71308 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Leu214Leu |
M0028115 |
CAPGDBCC_00052 |
71322 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
628G>C |
Glu210Gln |
M0028116 |
CAPGDBCC_00052 |
71349 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
601G>A |
Ala201Thr |
M0028117 |
CAPGDBCC_00052 |
71465 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
485A>G |
Lys162Arg |
M0028118 |
CAPGDBCC_00052 |
71701 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Arg83Arg |
M0028119 |
CAPGDBCC_00054 |
73120 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Asp250Asp |
M0028120 |
CAPGDBCC_00054 |
73244 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
626A>G |
His209Arg |
M0028121 |
CAPGDBCC_00054 |
73474 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396G>C |
Val132Val |
M0028122 |
CAPGDBCC_00074 |
97839 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
53C>T |
Thr18Met |
M0028123 |
CAPGDBCC_00074 |
97896 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
110A>G |
His37Arg |
M0028124 |
CAPGDBCC_00074 |
97904 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Ala40Thr |
M0028125 |
CAPGDBCC_00074 |
97905 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
119C>A |
Ala40Glu |
M0028126 |
CAPGDBCC_00074 |
97907 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
121T>G |
Ser41Ala |
M0028127 |
CAPGDBCC_00074 |
97935 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
149G>A |
Arg50His |
M0028128 |
CAPGDBCC_00074 |
98122 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Arg112Arg |
M0028129 |
CAPGDBCC_00076 |
99593 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Thr16Thr |
M0028130 |
CAPGDBCC_00077 |
100274 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-154T>G |
None |
M0028131 |
CAPGDBCC_00077 |
100344 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-84C>T |
None |
M0028132 |
CAPGDBCC_00078 |
101734 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-287C>T |
None |
M0028133 |
CAPGDBCC_00003 |
3414 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
332A>G |
Asn111Ser |
M0028134 |
CAPGDBCC_00003 |
3808 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-63A>G |
None |
M0028135 |
CAPGDBCC_00004 |
4360 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Arg169Arg |
M0028136 |
CAPGDBCC_00004 |
4362 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
505C>T |
Arg169Cys |
M0028137 |
CAPGDBCC_00004 |
4381 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Phe162Phe |
M0028138 |
CAPGDBCC_00003 |
5853 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2108C>T |
None |
M0028139 |
CAPGDBCC_00003 |
5854 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2109T>C |
None |
M0028140 |
CAPGDBCC_00006 |
5905 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
51T>G |
Ile17Met |
M0028141 |
CAPGDBCC_00006 |
5989 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Phe45Phe |
M0028142 |
CAPGDBCC_00006 |
6280 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
426G>C |
Glu142Asp |
M0028143 |
CAPGDBCC_00006 |
6565 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Asp237Asp |
M0028144 |
CAPGDBCC_00007 |
7278 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
63A>C |
Arg21Arg |
M0028145 |
CAPGDBCC_00007 |
7281 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
66C>G |
Thr22Thr |
M0028146 |
CAPGDBCC_00007 |
7308 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Gln31Gln |
M0028147 |
CAPGDBCC_00007 |
7353 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ala46Ala |
M0028148 |
CAPGDBCC_00008 |
8163 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
160T>C |
Phe54Leu |
M0028149 |
CAPGDBCC_00009 |
8612 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Gly80Gly |
M0028150 |
CAPGDBCC_00209 |
271473 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
182A>G |
Asp61Gly |
M0028151 |
CAPGDBCC_00204 |
271667 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4438G>A |
None |
M0028152 |
CAPGDBCC_00204 |
271668 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4439A>G |
None |
M0028153 |
CAPGDBCC_00204 |
271680 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4451G>A |
None |
M0028154 |
CAPGDBCC_00204 |
271691 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4462T>C |
None |
M0028155 |
CAPGDBCC_00210 |
272258 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Pro139Pro |
M0028156 |
CAPGDBCC_00210 |
272270 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
429T>G |
Ala143Ala |
M0028157 |
CAPGDBCC_00210 |
272783 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
942A>C |
Gly314Gly |
M0028158 |
CAPGDBCC_00210 |
272784 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
943C>T |
Leu315Leu |
M0028159 |
CAPGDBCC_00210 |
272963 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1122G>A |
Ala374Ala |
M0028160 |
CAPGDBCC_00211 |
273313 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
332C>T |
Pro111Leu |
M0028161 |
CAPGDBCC_00211 |
273342 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Gly101Gly |
M0028162 |
CAPGDBCC_00128 |
165589 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Ala36Thr |
M0028163 |
CAPGDBCC_00131 |
167847 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
304A>C |
Thr102Pro |
M0028164 |
CAPGDBCC_00063 |
83653 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
109A>C |
Asn37His |
M0028165 |
CAPGDBCC_00063 |
83655 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Asn37Asn |
M0028166 |
CAPGDBCC_00063 |
84024 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Ile160Ile |
M0028167 |
CAPGDBCC_00063 |
84030 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Gly162Gly |
M0028168 |
CAPGDBCC_00063 |
84032 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
488G>A |
Arg163His |
M0028169 |
CAPGDBCC_00063 |
84098 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
554C>G |
Ala185Gly |
M0028170 |
CAPGDBCC_00063 |
84225 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Pro227Pro |
M0028171 |
CAPGDBCC_00064 |
84368 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-148T>C |
None |
M0028172 |
CAPGDBCC_00064 |
84385 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-131A>C |
None |
M0028173 |
CAPGDBCC_00064 |
84460 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-56G>A |
None |
M0028174 |
CAPGDBCC_00064 |
84650 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Asn45Asn |
M0028175 |
CAPGDBCC_00064 |
84665 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Thr50Thr |
M0028176 |
CAPGDBCC_00064 |
84899 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Arg128Arg |
M0028177 |
CAPGDBCC_00064 |
85262 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Val249Val |
M0028178 |
CAPGDBCC_00064 |
85320 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
805A>G |
Ile269Val |
M0028179 |
CAPGDBCC_00064 |
85500 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
985A>G |
Thr329Ala |
M0028180 |
CAPGDBCC_00064 |
85502 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
987A>G |
Thr329Thr |
M0028181 |
CAPGDBCC_00064 |
85505 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
990A>G |
Ile330Met |
M0028182 |
CAPGDBCC_00064 |
85517 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Glu334Glu |
M0028183 |
CAPGDBCC_00064 |
85520 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1005C>A |
Ala335Ala |
M0028184 |
CAPGDBCC_00064 |
85538 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1023A>G |
Thr341Thr |
M0028185 |
CAPGDBCC_00064 |
85541 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1026C>G |
Pro342Pro |
M0028186 |
CAPGDBCC_00064 |
85559 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Lys348Lys |
M0028187 |
CAPGDBCC_00066 |
85741 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1986G>A |
None |
M0028188 |
CAPGDBCC_00066 |
85825 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1902A>G |
None |
M0028189 |
CAPGDBCC_00061 |
82274 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1356T>G |
Ser452Ser |
M0028190 |
CAPGDBCC_00061 |
82282 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1364C>T |
Ala455Val |
M0028191 |
CAPGDBCC_00061 |
82304 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1386G>A |
Leu462Leu |
M0028192 |
CAPGDBCC_00061 |
82314 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1396T>C |
Phe466Leu |
M0028193 |
CAPGDBCC_00061 |
82330 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1412T>C |
Ile471Thr |
M0028194 |
CAPGDBCC_00061 |
82342 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1424G>A |
Arg475Gln |
M0028195 |
CAPGDBCC_00061 |
82345 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1427G>A |
Gly476Asp |
M0028196 |
CAPGDBCC_00061 |
82347 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1429A>G |
Asn477Asp |
M0028197 |
CAPGDBCC_00061 |
82364 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1446C>A |
Gly482Gly |
M0028198 |
CAPGDBCC_00061 |
82373 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1455G>C |
Leu485Leu |
M0028199 |
CAPGDBCC_00061 |
82448 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1530G>A |
Arg510Arg |
M0028200 |
CAPGDBCC_00061 |
82694 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1776T>C |
Asp592Asp |
M0028201 |
CAPGDBCC_00061 |
82718 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1800T>C |
Tyr600Tyr |
M0028202 |
CAPGDBCC_00061 |
82739 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1821G>A |
Pro607Pro |
M0028203 |
CAPGDBCC_00061 |
82775 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1857G>A |
Glu619Glu |
M0028204 |
CAPGDBCC_00062 |
83104 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-83T>C |
None |
M0028205 |
CAPGDBCC_00062 |
83113 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74G>A |
None |
M0028206 |
CAPGDBCC_00062 |
83117 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-70G>A |
None |
M0028207 |
CAPGDBCC_00062 |
83142 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45C>T |
None |
M0028208 |
CAPGDBCC_00062 |
83147 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-40G>A |
None |
M0028209 |
CAPGDBCC_00062 |
83154 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-33C>T |
None |
M0028210 |
CAPGDBCC_00062 |
83190 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
4A>C |
Ser2Arg |
M0028211 |
CAPGDBCC_00064 |
84749 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asp78Asp |
M0028212 |
CAPGDBCC_00064 |
84794 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Gln93Gln |
M0028213 |
CAPGDBCC_00064 |
84846 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
331A>G |
Ile111Val |
M0028214 |
CAPGDBCC_00061 |
81656 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Asp246Asp |
M0028215 |
CAPGDBCC_00061 |
81773 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Ser285Ser |
M0028216 |
CAPGDBCC_00061 |
82226 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1308A>T |
Thr436Thr |
M0028217 |
CAPGDBCC_00061 |
82886 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1968A>G |
Ser656Ser |
M0028218 |
CAPGDBCC_00061 |
82900 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1982A>T |
Asp661Val |
M0028219 |
CAPGDBCC_00066 |
85651 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2076T>G |
None |
M0028220 |
CAPGDBCC_00066 |
85652 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2075C>T |
None |
M0028221 |
CAPGDBCC_00066 |
85661 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2066G>A |
None |
M0028222 |
CAPGDBCC_00066 |
85662 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2065G>A |
None |
M0028223 |
CAPGDBCC_00066 |
85700 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2027A>G |
None |
M0028224 |
CAPGDBCC_00066 |
85705 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2022A>G |
None |
M0028225 |
CAPGDBCC_00066 |
85715 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2012A>C |
None |
M0028226 |
CAPGDBCC_00034 |
46143 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Gly143Arg |
M0028227 |
CAPGDBCC_00034 |
46254 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
538T>C |
Cys180Arg |
M0028228 |
CAPGDBCC_00034 |
46291 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
575A>G |
His192Arg |
M0028229 |
CAPGDBCC_00034 |
46382 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Ala222Ala |
M0028230 |
CAPGDBCC_00034 |
46439 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Gly241Gly |
M0028231 |
CAPGDBCC_00035 |
46840 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1163G>A |
Arg388His |
M0028232 |
CAPGDBCC_00035 |
46995 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1008T>G |
Leu336Leu |
M0028233 |
CAPGDBCC_00035 |
47046 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
957C>T |
Ile319Ile |
M0028234 |
CAPGDBCC_00035 |
47161 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
842G>A |
Arg281Gln |
M0028235 |
CAPGDBCC_00035 |
47178 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Cys275Cys |
M0028236 |
CAPGDBCC_00035 |
47233 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
770A>G |
His257Arg |
M0028237 |
CAPGDBCC_00035 |
47238 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
765A>C |
Arg255Arg |
M0028238 |
CAPGDBCC_00035 |
47250 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
753G>C |
Gln251His |
M0028239 |
CAPGDBCC_00035 |
47256 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Cys249Cys |
M0028240 |
CAPGDBCC_00035 |
47394 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Asp203Asp |
M0028241 |
CAPGDBCC_00035 |
47427 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Arg192Arg |
M0028242 |
CAPGDBCC_00035 |
47430 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Ser191Ser |
M0028243 |
CAPGDBCC_00035 |
47691 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ile104Ile |
M0028244 |
CAPGDBCC_00035 |
47829 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Leu58Leu |
M0028245 |
CAPGDBCC_00031 |
48100 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4983T>C |
None |
M0028246 |
CAPGDBCC_00032 |
48186 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3756G>A |
None |
M0028247 |
CAPGDBCC_00036 |
48273 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
His382His |
M0028248 |
CAPGDBCC_00036 |
48619 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
800C>A |
Ala267Glu |
M0028249 |
CAPGDBCC_00036 |
49056 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363C>G |
Ala121Ala |
M0028250 |
CAPGDBCC_00035 |
49436 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1434T>C |
None |
M0028251 |
CAPGDBCC_00035 |
49457 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1455T>A |
None |
M0028252 |
CAPGDBCC_00035 |
49512 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1510A>G |
None |
M0028253 |
CAPGDBCC_00035 |
49514 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1512T>C |
None |
M0028254 |
CAPGDBCC_00035 |
49516 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1514C>T |
None |
M0028255 |
CAPGDBCC_00037 |
49804 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141A>C |
Ala47Ala |
M0028256 |
CAPGDBCC_00037 |
49891 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ala76Ala |
M0028257 |
CAPGDBCC_00037 |
49894 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
231G>T |
Gly77Gly |
M0028258 |
CAPGDBCC_00037 |
49913 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
250G>C |
Ala84Pro |
M0028259 |
CAPGDBCC_00037 |
49915 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Ala84Ala |
M0028260 |
CAPGDBCC_00037 |
49918 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Glu85Glu |
M0028261 |
CAPGDBCC_00037 |
50032 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369T>C |
Gly123Gly |
M0028262 |
CAPGDBCC_00037 |
50047 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Asp128Asp |
M0028263 |
CAPGDBCC_00037 |
50123 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
460T>C |
Leu154Leu |
M0028264 |
CAPGDBCC_00037 |
50239 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
576A>C |
Ile192Ile |
M0028265 |
CAPGDBCC_00037 |
50242 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
579A>G |
Val193Val |
M0028266 |
CAPGDBCC_00035 |
50375 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2373T>C |
None |
M0028267 |
CAPGDBCC_00035 |
50417 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2415A>G |
None |
M0028268 |
CAPGDBCC_00115 |
152265 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1846G>A |
Gly616Ser |
M0028269 |
CAPGDBCC_00116 |
152670 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1953C>T |
Pro651Pro |
M0028270 |
CAPGDBCC_00116 |
153351 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1272T>C |
Ala424Ala |
M0028271 |
CAPGDBCC_00116 |
154089 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Ile178Ile |
M0028272 |
CAPGDBCC_00117 |
155089 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
461T>C |
Val154Ala |
M0028273 |
CAPGDBCC_00118 |
160824 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2708T>C |
None |
M0028274 |
CAPGDBCC_00118 |
160829 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2713T>C |
None |
M0028275 |
CAPGDBCC_00122 |
161071 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Glu49Glu |
M0028276 |
CAPGDBCC_00123 |
162410 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Arg135Arg |
M0028277 |
CAPGDBCC_00123 |
162544 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
539C>T |
Ala180Val |
M0028278 |
CAPGDBCC_00123 |
162705 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
700A>G |
Ile234Val |
M0028279 |
CAPGDBCC_00123 |
162993 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
988T>C |
Ser330Pro |
M0028280 |
CAPGDBCC_00123 |
163061 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1056T>C |
Cys352Cys |
M0028281 |
CAPGDBCC_00125 |
164404 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Glu49Lys |
M0028282 |
CAPGDBCC_00054 |
73019 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
851G>A |
Arg284Gln |
M0028283 |
CAPGDBCC_00053 |
73020 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
790G>C |
Ala264Pro |
M0028284 |
CAPGDBCC_00054 |
73022 |
4 |
Skin |
0.04 |
protein_coding |
stop_gained |
HIGH |
848G>A |
Trp283* |
M0028285 |
CAPGDBCC_00050 |
70078 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-56A>T |
None |
M0028286 |
CAPGDBCC_00051 |
70439 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
723A>G |
Gly241Gly |
M0028287 |
CAPGDBCC_00115 |
151224 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
805T>C |
Leu269Leu |
M0028288 |
CAPGDBCC_00115 |
151520 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1101G>A |
Arg367Arg |
M0028289 |
CAPGDBCC_00115 |
151544 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1125C>T |
Thr375Thr |
M0028290 |
CAPGDBCC_00115 |
151709 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1290G>A |
Glu430Glu |
M0028291 |
CAPGDBCC_00115 |
151730 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311C>T |
Gly437Gly |
M0028292 |
CAPGDBCC_00115 |
151740 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1321G>A |
Gly441Ser |
M0028293 |
CAPGDBCC_00115 |
151746 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1327C>T |
Pro443Ser |
M0028294 |
CAPGDBCC_00115 |
151747 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1328C>T |
Pro443Leu |
M0028295 |
CAPGDBCC_00115 |
151757 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1338T>C |
Arg446Arg |
M0028296 |
CAPGDBCC_00115 |
151832 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1413T>C |
Ile471Ile |
M0028297 |
CAPGDBCC_00115 |
151863 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1444G>A |
Val482Met |
M0028298 |
CAPGDBCC_00115 |
151961 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1542T>C |
Ala514Ala |
M0028299 |
CAPGDBCC_00115 |
151966 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1547G>A |
Arg516Gln |
M0028300 |
CAPGDBCC_00133 |
170233 |
4 |
Skin |
0.04 |
protein_coding |
start_lost |
HIGH |
2T>C |
Met1? |
M0028301 |
CAPGDBCC_00134 |
170268 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
487T>G |
Ser163Ala |
M0028302 |
CAPGDBCC_00134 |
170350 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Lys135Lys |
M0028303 |
CAPGDBCC_00134 |
170460 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
295C>T |
His99Tyr |
M0028304 |
CAPGDBCC_00134 |
170562 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
193A>G |
Arg65Gly |
M0028305 |
CAPGDBCC_00134 |
170623 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Arg44Arg |
M0028306 |
CAPGDBCC_00132 |
170821 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1973T>C |
None |
M0028307 |
CAPGDBCC_00132 |
170829 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1981C>T |
None |
M0028308 |
CAPGDBCC_00132 |
170835 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1987C>G |
None |
M0028309 |
CAPGDBCC_00132 |
170941 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2093G>C |
None |
M0028310 |
CAPGDBCC_00132 |
171008 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2160G>A |
None |
M0028311 |
CAPGDBCC_00132 |
171012 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2164T>G |
None |
M0028312 |
CAPGDBCC_00132 |
171131 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2283A>G |
None |
M0028313 |
CAPGDBCC_00132 |
171305 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2457A>G |
None |
M0028314 |
CAPGDBCC_00132 |
171310 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2462G>C |
None |
M0028315 |
CAPGDBCC_00135 |
171396 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
50T>C |
Ile17Thr |
M0028316 |
CAPGDBCC_00136 |
171827 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
128G>T |
Arg43Leu |
M0028317 |
CAPGDBCC_00136 |
171844 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
145C>A |
Arg49Arg |
M0028318 |
CAPGDBCC_00136 |
171953 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
254C>T |
Ala85Val |
M0028319 |
CAPGDBCC_00132 |
172165 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3317A>G |
None |
M0028320 |
CAPGDBCC_00132 |
172263 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3415T>C |
None |
M0028321 |
CAPGDBCC_00132 |
172332 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3484C>G |
None |
M0028322 |
CAPGDBCC_00137 |
172495 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Pro2Pro |
M0028323 |
CAPGDBCC_00137 |
172562 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Arg25Gly |
M0028324 |
CAPGDBCC_00137 |
172640 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Asn51Asp |
M0028325 |
CAPGDBCC_00137 |
172850 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
361C>T |
Pro121Ser |
M0028326 |
CAPGDBCC_00132 |
173031 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4183G>C |
None |
M0028327 |
CAPGDBCC_00132 |
173069 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4221C>G |
None |
M0028328 |
CAPGDBCC_00096 |
126970 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Ser42Gly |
M0028329 |
CAPGDBCC_00096 |
127074 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Ala76Ala |
M0028330 |
CAPGDBCC_00074 |
98943 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1157C>A |
Pro386Gln |
M0028331 |
CAPGDBCC_00077 |
100139 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-289G>A |
None |
M0028332 |
CAPGDBCC_00077 |
100571 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Asp48Asp |
M0028333 |
CAPGDBCC_00112 |
146288 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Phe62Phe |
M0028334 |
CAPGDBCC_00112 |
147212 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1110T>C |
Ser370Ser |
M0028335 |
CAPGDBCC_00112 |
147578 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1476T>C |
Asn492Asn |
M0028336 |
CAPGDBCC_00113 |
148089 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Gly153Gly |
M0028337 |
CAPGDBCC_00113 |
148362 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732A>C |
Thr244Thr |
M0028338 |
CAPGDBCC_00113 |
148662 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1032G>A |
Arg344Arg |
M0028339 |
CAPGDBCC_00113 |
148668 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038G>C |
Ser346Ser |
M0028340 |
CAPGDBCC_00113 |
148669 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1039C>A |
Arg347Arg |
M0028341 |
CAPGDBCC_00114 |
148950 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Gly56Gly |
M0028342 |
CAPGDBCC_00114 |
148980 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198A>C |
Ala66Ala |
M0028343 |
CAPGDBCC_00114 |
148992 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Gly70Gly |
M0028344 |
CAPGDBCC_00114 |
148995 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Arg71Arg |
M0028345 |
CAPGDBCC_00114 |
149134 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
352T>C |
Leu118Leu |
M0028346 |
CAPGDBCC_00114 |
149148 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Gly122Gly |
M0028347 |
CAPGDBCC_00114 |
149229 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ile149Ile |
M0028348 |
CAPGDBCC_00114 |
149238 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Gly152Gly |
M0028349 |
CAPGDBCC_00114 |
149248 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
466G>C |
Val156Leu |
M0028350 |
CAPGDBCC_00114 |
149356 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
574G>T |
Ala192Ser |
M0028351 |
CAPGDBCC_00114 |
149358 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Ala192Ala |
M0028352 |
CAPGDBCC_00114 |
149359 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
577C>A |
Arg193Arg |
M0028353 |
CAPGDBCC_00114 |
149362 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
580T>C |
Leu194Leu |
M0028354 |
CAPGDBCC_00114 |
149370 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Asn196Asn |
M0028355 |
CAPGDBCC_00114 |
149442 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
660A>G |
Gly220Gly |
M0028356 |
CAPGDBCC_00114 |
149466 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Ser228Ser |
M0028357 |
CAPGDBCC_00114 |
149511 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Ser243Ser |
M0028358 |
CAPGDBCC_00114 |
149523 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
741A>G |
Glu247Glu |
M0028359 |
CAPGDBCC_00114 |
149548 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
766T>C |
Leu256Leu |
M0028360 |
CAPGDBCC_00114 |
149607 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Ser275Ser |
M0028361 |
CAPGDBCC_00114 |
149622 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Ile280Ile |
M0028362 |
CAPGDBCC_00114 |
149628 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
846C>A |
Ala282Ala |
M0028363 |
CAPGDBCC_00114 |
149745 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
963G>T |
Gly321Gly |
M0028364 |
CAPGDBCC_00114 |
149746 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
964C>G |
His322Asp |
M0028365 |
CAPGDBCC_00114 |
149747 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
965A>T |
His322Leu |
M0028366 |
CAPGDBCC_00114 |
149748 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
966C>T |
His322His |
M0028367 |
CAPGDBCC_00114 |
149776 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
994T>G |
Ser332Ala |
M0028368 |
CAPGDBCC_00114 |
149795 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1013A>G |
Glu338Gly |
M0028369 |
CAPGDBCC_00114 |
149811 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Tyr343Tyr |
M0028370 |
CAPGDBCC_00114 |
149883 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1101T>G |
Ala367Ala |
M0028371 |
CAPGDBCC_00114 |
150022 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1240G>A |
Val414Ile |
M0028372 |
CAPGDBCC_00114 |
150078 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1296A>G |
Val432Val |
M0028373 |
CAPGDBCC_00114 |
150081 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1299G>A |
Arg433Arg |
M0028374 |
CAPGDBCC_00114 |
150092 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1310G>C |
Gly437Ala |
M0028375 |
CAPGDBCC_00114 |
150108 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1326C>G |
Ala442Ala |
M0028376 |
CAPGDBCC_00114 |
150113 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1331T>C |
Val444Ala |
M0028377 |
CAPGDBCC_00114 |
150114 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1332C>T |
Val444Val |
M0028378 |
CAPGDBCC_00114 |
150115 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1333C>A |
Arg445Arg |
M0028379 |
CAPGDBCC_00114 |
150118 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1336C>G |
Gln446Glu |
M0028380 |
CAPGDBCC_00114 |
150129 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Asp449Asp |
M0028381 |
CAPGDBCC_00114 |
150141 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1359C>T |
Gly453Gly |
M0028382 |
CAPGDBCC_00114 |
150152 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1370G>C |
Gly457Ala |
M0028383 |
CAPGDBCC_00114 |
150164 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1382C>A |
Thr461Lys |
M0028384 |
CAPGDBCC_00114 |
150186 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1404A>G |
Gly468Gly |
M0028385 |
CAPGDBCC_00114 |
150261 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1479A>G |
Leu493Leu |
M0028386 |
CAPGDBCC_00114 |
150283 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1501T>G |
Ser501Ala |
M0028387 |
CAPGDBCC_00114 |
150375 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1593T>G |
Val531Val |
M0028388 |
CAPGDBCC_00114 |
150399 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1617C>G |
Val539Val |
M0028389 |
CAPGDBCC_00114 |
150400 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1618A>G |
Thr540Ala |
M0028390 |
CAPGDBCC_00114 |
150409 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1627G>A |
Glu543Lys |
M0028391 |
CAPGDBCC_00115 |
150608 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Gln63Gln |
M0028392 |
CAPGDBCC_00115 |
150643 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
224G>A |
Gly75Glu |
M0028393 |
CAPGDBCC_00115 |
150660 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
241C>G |
Pro81Ala |
M0028394 |
CAPGDBCC_00115 |
150665 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Ser82Ser |
M0028395 |
CAPGDBCC_00115 |
150758 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Leu113Leu |
M0028396 |
CAPGDBCC_00115 |
150870 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
451C>T |
Leu151Leu |
M0028397 |
CAPGDBCC_00115 |
150896 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Arg159Arg |
M0028398 |
CAPGDBCC_00115 |
150950 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
His177His |
M0028399 |
CAPGDBCC_00115 |
150954 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
535T>C |
Leu179Leu |
M0028400 |
CAPGDBCC_00115 |
151028 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Arg203Arg |
M0028401 |
CAPGDBCC_00115 |
151049 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Val210Val |
M0028402 |
CAPGDBCC_00115 |
151157 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
738G>A |
Arg246Arg |
M0028403 |
CAPGDBCC_00115 |
151790 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1371A>G |
Ser457Ser |
M0028404 |
CAPGDBCC_00115 |
151964 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1545A>T |
Arg515Arg |
M0028405 |
CAPGDBCC_00115 |
152122 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1703A>G |
Asp568Gly |
M0028406 |
CAPGDBCC_00115 |
152123 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1704T>C |
Asp568Asp |
M0028407 |
CAPGDBCC_00115 |
152132 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1713A>G |
Glu571Glu |
M0028408 |
CAPGDBCC_00115 |
152234 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1815T>C |
Ala605Ala |
M0028409 |
CAPGDBCC_00115 |
152261 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1842A>G |
Thr614Thr |
M0028410 |
CAPGDBCC_00115 |
152309 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1890G>A |
Glu630Glu |
M0028411 |
CAPGDBCC_00148 |
184474 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
149C>A |
Ala50Glu |
M0028412 |
CAPGDBCC_00148 |
184494 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129T>C |
Gly43Gly |
M0028413 |
CAPGDBCC_00148 |
184533 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Cys30Cys |
M0028414 |
CAPGDBCC_00148 |
184551 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Gln24Gln |
M0028415 |
CAPGDBCC_00149 |
184797 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2264C>A |
Ala755Glu |
M0028416 |
CAPGDBCC_00149 |
184942 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2119T>C |
Leu707Leu |
M0028417 |
CAPGDBCC_00149 |
185183 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1878A>G |
Arg626Arg |
M0028418 |
CAPGDBCC_00192 |
250585 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3869C>T |
None |
M0028419 |
CAPGDBCC_00192 |
250586 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3870G>C |
None |
M0028420 |
CAPGDBCC_00192 |
250602 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3886T>C |
None |
M0028421 |
CAPGDBCC_00192 |
250611 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3895A>G |
None |
M0028422 |
CAPGDBCC_00197 |
250830 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
20C>T |
Pro7Leu |
M0028423 |
CAPGDBCC_00197 |
250841 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
31G>A |
Val11Ile |
M0028424 |
CAPGDBCC_00197 |
250842 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
32T>C |
Val11Ala |
M0028425 |
CAPGDBCC_00197 |
250845 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
35T>C |
Val12Ala |
M0028426 |
CAPGDBCC_00197 |
250868 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Ala20Thr |
M0028427 |
CAPGDBCC_00197 |
250876 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Lys22Lys |
M0028428 |
CAPGDBCC_00197 |
250885 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Gly25Gly |
M0028429 |
CAPGDBCC_00197 |
250888 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Asp26Asp |
M0028430 |
CAPGDBCC_00197 |
250975 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Glu55Glu |
M0028431 |
CAPGDBCC_00197 |
250987 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177T>G |
Ser59Ser |
M0028432 |
CAPGDBCC_00197 |
250993 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Tyr61Tyr |
M0028433 |
CAPGDBCC_00197 |
251026 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Gly72Gly |
M0028434 |
CAPGDBCC_00197 |
251115 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
305C>A |
Thr102Asn |
M0028435 |
CAPGDBCC_00197 |
251263 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Arg151Arg |
M0028436 |
CAPGDBCC_00197 |
251266 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Gly152Gly |
M0028437 |
CAPGDBCC_00197 |
251267 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
457T>C |
Leu153Leu |
M0028438 |
CAPGDBCC_00197 |
251347 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Gly179Gly |
M0028439 |
CAPGDBCC_00197 |
251350 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
540C>A |
Ala180Ala |
M0028440 |
CAPGDBCC_00197 |
251359 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Gly183Gly |
M0028441 |
CAPGDBCC_00113 |
148611 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Val327Val |
M0028442 |
CAPGDBCC_00114 |
150234 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1452C>T |
Ala484Ala |
M0028443 |
CAPGDBCC_00115 |
150648 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Ile77Val |
M0028444 |
CAPGDBCC_00115 |
150776 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357C>G |
Leu119Leu |
M0028445 |
CAPGDBCC_00115 |
150935 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Glu172Glu |
M0028446 |
CAPGDBCC_00115 |
152312 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1893C>G |
Arg631Arg |
M0028447 |
CAPGDBCC_00061 |
82145 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1227A>C |
Leu409Leu |
M0028448 |
CAPGDBCC_00061 |
82500 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1582A>G |
Met528Val |
M0028449 |
CAPGDBCC_00061 |
82535 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1617G>A |
Gly539Gly |
M0028450 |
CAPGDBCC_00061 |
82552 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1634C>T |
Ala545Val |
M0028451 |
CAPGDBCC_00061 |
82554 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1636A>G |
Thr546Ala |
M0028452 |
CAPGDBCC_00061 |
82569 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1651T>C |
Leu551Leu |
M0028453 |
CAPGDBCC_00061 |
82574 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1656A>C |
Arg552Arg |
M0028454 |
CAPGDBCC_00061 |
82577 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1659T>A |
Ala553Ala |
M0028455 |
CAPGDBCC_00061 |
82598 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1680A>G |
Lys560Lys |
M0028456 |
CAPGDBCC_00061 |
82711 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1793C>T |
Ala598Val |
M0028457 |
CAPGDBCC_00061 |
82916 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1998T>C |
Ser666Ser |
M0028458 |
CAPGDBCC_00061 |
82927 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2009G>A |
Gly670Asp |
M0028459 |
CAPGDBCC_00062 |
83381 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195T>G |
Ala65Ala |
M0028460 |
CAPGDBCC_00193 |
248099 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
750A>G |
Val250Val |
M0028461 |
CAPGDBCC_00193 |
248102 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Pro251Pro |
M0028462 |
CAPGDBCC_00193 |
248408 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1059T>C |
Arg353Arg |
M0028463 |
CAPGDBCC_00193 |
248480 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1131A>G |
Arg377Arg |
M0028464 |
CAPGDBCC_00193 |
248588 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1239T>C |
Asp413Asp |
M0028465 |
CAPGDBCC_00193 |
248656 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1307G>A |
Ser436Asn |
M0028466 |
CAPGDBCC_00193 |
248663 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1314C>T |
Ala438Ala |
M0028467 |
CAPGDBCC_00193 |
248682 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1333A>G |
Thr445Ala |
M0028468 |
CAPGDBCC_00193 |
248686 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1337G>A |
Gly446Glu |
M0028469 |
CAPGDBCC_00194 |
248780 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
43C>T |
Pro15Ser |
M0028470 |
CAPGDBCC_00194 |
248823 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
86T>C |
Met29Thr |
M0028471 |
CAPGDBCC_00194 |
248880 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
143G>A |
Ser48Asn |
M0028472 |
CAPGDBCC_00194 |
249190 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Asp151Asp |
M0028473 |
CAPGDBCC_00194 |
249268 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531A>C |
Ala177Ala |
M0028474 |
CAPGDBCC_00194 |
249271 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
534G>A |
Gln178Gln |
M0028475 |
CAPGDBCC_00194 |
249272 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
535T>C |
Leu179Leu |
M0028476 |
CAPGDBCC_00194 |
249325 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Ser196Ser |
M0028477 |
CAPGDBCC_00194 |
249350 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
613G>A |
Ala205Thr |
M0028478 |
CAPGDBCC_00194 |
249419 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
682A>G |
Met228Val |
M0028479 |
CAPGDBCC_00194 |
249446 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
709G>A |
Asp237Asn |
M0028480 |
CAPGDBCC_00194 |
249817 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Asp360Asp |
M0028481 |
CAPGDBCC_00194 |
249818 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1081A>G |
Thr361Ala |
M0028482 |
CAPGDBCC_00194 |
249823 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1086T>C |
Ala362Ala |
M0028483 |
CAPGDBCC_00194 |
249829 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1092T>C |
Asp364Asp |
M0028484 |
CAPGDBCC_00194 |
249838 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Gly367Gly |
M0028485 |
CAPGDBCC_00194 |
249842 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1105G>A |
Ala369Thr |
M0028486 |
CAPGDBCC_00194 |
249851 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1114A>G |
Asn372Asp |
M0028487 |
CAPGDBCC_00194 |
249854 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1117G>C |
Glu373Gln |
M0028488 |
CAPGDBCC_00194 |
250093 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1356A>G |
Leu452Leu |
M0028489 |
CAPGDBCC_00061 |
82875 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1957G>T |
Ala653Ser |
M0028490 |
CAPGDBCC_00061 |
82878 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1960T>G |
Ser654Ala |
M0028491 |
CAPGDBCC_00061 |
83006 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2088G>A |
Gln696Gln |
M0028492 |
CAPGDBCC_00063 |
83592 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Gly16Gly |
M0028493 |
CAPGDBCC_00063 |
83712 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
168C>A |
Ala56Ala |
M0028494 |
CAPGDBCC_00063 |
83730 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Gly62Gly |
M0028495 |
CAPGDBCC_00063 |
83757 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213G>C |
Pro71Pro |
M0028496 |
CAPGDBCC_00063 |
84093 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
549G>A |
Glu183Glu |
M0028497 |
CAPGDBCC_00064 |
84626 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Gly37Gly |
M0028498 |
CAPGDBCC_00115 |
150742 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
323G>A |
Arg108Lys |
M0028499 |
CAPGDBCC_00115 |
151280 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
861A>G |
Glu287Glu |
M0028500 |
CAPGDBCC_00029 |
44492 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3181G>A |
None |
M0028501 |
CAPGDBCC_00029 |
44494 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3183G>A |
None |
M0028502 |
CAPGDBCC_00033 |
44795 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
179C>T |
Ala60Val |
M0028503 |
CAPGDBCC_00033 |
45583 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
967C>A |
His323Asn |
M0028504 |
CAPGDBCC_00034 |
45745 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
29C>A |
Pro10His |
M0028505 |
CAPGDBCC_00034 |
45808 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
92A>G |
Glu31Gly |
M0028506 |
CAPGDBCC_00034 |
45905 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Ser63Ser |
M0028507 |
CAPGDBCC_00034 |
45945 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Thr77Ala |
M0028508 |
CAPGDBCC_00034 |
45989 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Ser91Ser |
M0028509 |
CAPGDBCC_00034 |
45993 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
277C>T |
Leu93Leu |
M0028510 |
CAPGDBCC_00034 |
45998 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Ala94Ala |
M0028511 |
CAPGDBCC_00034 |
46000 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
284C>A |
Pro95His |
M0028512 |
CAPGDBCC_00034 |
46009 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
293T>A |
Leu98Gln |
M0028513 |
CAPGDBCC_00034 |
46027 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
311G>A |
Arg104Gln |
M0028514 |
CAPGDBCC_00034 |
46045 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
329C>A |
Ala110Asp |
M0028515 |
CAPGDBCC_00034 |
46103 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Pro129Pro |
M0028516 |
CAPGDBCC_00034 |
46155 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Thr147Ala |
M0028517 |
CAPGDBCC_00034 |
46179 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
463A>G |
Thr155Ala |
M0028518 |
CAPGDBCC_00034 |
46208 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Ala164Ala |
M0028519 |
CAPGDBCC_00034 |
46241 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525G>C |
Ala175Ala |
M0028520 |
CAPGDBCC_00034 |
46322 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Gly202Gly |
M0028521 |
CAPGDBCC_00034 |
46413 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
697C>T |
Leu233Leu |
M0028522 |
CAPGDBCC_00034 |
46478 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762G>A |
Thr254Thr |
M0028523 |
CAPGDBCC_00034 |
46505 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
789G>A |
Ala263Ala |
M0028524 |
CAPGDBCC_00034 |
46534 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
818T>C |
Val273Ala |
M0028525 |
CAPGDBCC_00034 |
46586 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
870T>C |
Arg290Arg |
M0028526 |
CAPGDBCC_00034 |
46589 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
873A>C |
Ser291Ser |
M0028527 |
CAPGDBCC_00034 |
46590 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
874G>A |
Ala292Thr |
M0028528 |
CAPGDBCC_00035 |
46632 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1371G>A |
Gly457Gly |
M0028529 |
CAPGDBCC_00035 |
46678 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1325T>A |
Met442Lys |
M0028530 |
CAPGDBCC_00035 |
46679 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1324A>C |
Met442Leu |
M0028531 |
CAPGDBCC_00035 |
46680 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1323G>A |
Pro441Pro |
M0028532 |
CAPGDBCC_00035 |
46683 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1320A>G |
Gly440Gly |
M0028533 |
CAPGDBCC_00035 |
46761 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1242T>C |
Gly414Gly |
M0028534 |
CAPGDBCC_00035 |
46797 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1206G>A |
Arg402Arg |
M0028535 |
CAPGDBCC_00035 |
46848 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1155C>T |
Gly385Gly |
M0028536 |
CAPGDBCC_00035 |
46851 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1152T>C |
His384His |
M0028537 |
CAPGDBCC_00035 |
46859 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1144T>C |
Leu382Leu |
M0028538 |
CAPGDBCC_00035 |
46869 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1134T>C |
Ala378Ala |
M0028539 |
CAPGDBCC_00035 |
46896 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Tyr369Tyr |
M0028540 |
CAPGDBCC_00035 |
46899 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1104T>C |
Asp368Asp |
M0028541 |
CAPGDBCC_00035 |
46911 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1092A>G |
Arg364Arg |
M0028542 |
CAPGDBCC_00035 |
46912 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1091G>A |
Arg364Gln |
M0028543 |
CAPGDBCC_00035 |
46914 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1089G>T |
Gly363Gly |
M0028544 |
CAPGDBCC_00035 |
47487 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
516A>G |
Gly172Gly |
M0028545 |
CAPGDBCC_00035 |
47511 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492A>C |
Val164Val |
M0028546 |
CAPGDBCC_00035 |
47514 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Gln163Gln |
M0028547 |
CAPGDBCC_00035 |
47538 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Ala155Ala |
M0028548 |
CAPGDBCC_00035 |
47802 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Pro67Pro |
M0028549 |
CAPGDBCC_00036 |
48242 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1177C>T |
Leu393Leu |
M0028550 |
CAPGDBCC_00036 |
48813 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Asn202Asn |
M0028551 |
CAPGDBCC_00036 |
48948 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
471T>C |
Gly157Gly |
M0028552 |
CAPGDBCC_00036 |
48987 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432C>A |
Pro144Pro |
M0028553 |
CAPGDBCC_00036 |
49049 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
370C>T |
Pro124Ser |
M0028554 |
CAPGDBCC_00036 |
49050 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Pro123Pro |
M0028555 |
CAPGDBCC_00036 |
49074 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Asp115Asp |
M0028556 |
CAPGDBCC_00036 |
49164 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Glu85Glu |
M0028557 |
CAPGDBCC_00036 |
49170 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Gly83Gly |
M0028558 |
CAPGDBCC_00036 |
49203 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216T>A |
Ser72Ser |
M0028559 |
CAPGDBCC_00036 |
49206 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213T>A |
Gly71Gly |
M0028560 |
CAPGDBCC_00036 |
49281 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
138T>G |
Arg46Arg |
M0028561 |
CAPGDBCC_00034 |
46043 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
327C>A |
His109Gln |
M0028562 |
CAPGDBCC_00035 |
47706 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Glu99Glu |
M0028563 |
CAPGDBCC_00035 |
47718 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Gly95Gly |
M0028564 |
CAPGDBCC_00037 |
50208 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
545A>G |
Lys182Arg |
M0028565 |
CAPGDBCC_00037 |
50224 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Asn187Asn |
M0028566 |
CAPGDBCC_00035 |
50474 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2472T>C |
None |
M0028567 |
CAPGDBCC_00035 |
50480 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2478C>T |
None |
M0028568 |
CAPGDBCC_00193 |
248578 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1229G>A |
Arg410Gln |
M0028569 |
CAPGDBCC_00193 |
248648 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1299G>C |
Leu433Leu |
M0028570 |
CAPGDBCC_00194 |
249732 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
995A>G |
Lys332Arg |
M0028571 |
CAPGDBCC_00194 |
249735 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
998G>T |
Cys333Phe |
M0028572 |
CAPGDBCC_00194 |
249736 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
999T>C |
Cys333Cys |
M0028573 |
CAPGDBCC_00194 |
249749 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1012G>T |
Ala338Ser |
M0028574 |
CAPGDBCC_00194 |
249841 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1104T>C |
Arg368Arg |
M0028575 |
CAPGDBCC_00062 |
83226 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Ala14Thr |
M0028576 |
CAPGDBCC_00063 |
83793 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Leu83Leu |
M0028577 |
CAPGDBCC_00063 |
83796 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Asp84Asp |
M0028578 |
CAPGDBCC_00063 |
83802 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Lys86Lys |
M0028579 |
CAPGDBCC_00064 |
85299 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
784A>G |
Thr262Ala |
M0028580 |
CAPGDBCC_00064 |
85337 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822G>C |
Ser274Ser |
M0028581 |
CAPGDBCC_00064 |
85343 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Arg276Arg |
M0028582 |
CAPGDBCC_00140 |
175269 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Leu177Leu |
M0028583 |
CAPGDBCC_00141 |
176264 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
813G>A |
Thr271Thr |
M0028584 |
CAPGDBCC_00138 |
176693 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2985A>C |
None |
M0028585 |
CAPGDBCC_00138 |
176694 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2986C>A |
None |
M0028586 |
CAPGDBCC_00142 |
176770 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
63G>C |
Arg21Ser |
M0028587 |
CAPGDBCC_00142 |
176771 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Val22Met |
M0028588 |
CAPGDBCC_00142 |
177127 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Val140Val |
M0028589 |
CAPGDBCC_00142 |
177144 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
437G>A |
Gly146Glu |
M0028590 |
CAPGDBCC_00115 |
152333 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1914G>C |
Leu638Leu |
M0028591 |
CAPGDBCC_00149 |
185448 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1613G>A |
Gly538Asp |
M0028592 |
CAPGDBCC_00149 |
185618 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1443T>C |
Gly481Gly |
M0028593 |
CAPGDBCC_00149 |
186008 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Arg351Arg |
M0028594 |
CAPGDBCC_00149 |
186013 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1048A>G |
Thr350Ala |
M0028595 |
CAPGDBCC_00149 |
186143 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
918A>T |
Ala306Ala |
M0028596 |
CAPGDBCC_00149 |
186194 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Cys289Cys |
M0028597 |
CAPGDBCC_00074 |
98231 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
445C>T |
Leu149Leu |
M0028598 |
CAPGDBCC_00077 |
100390 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-38T>C |
None |
M0028599 |
CAPGDBCC_00077 |
100404 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24T>C |
None |
M0028600 |
CAPGDBCC_00077 |
100658 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
231G>C |
Val77Val |
M0028601 |
CAPGDBCC_00077 |
100661 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Pro78Pro |
M0028602 |
CAPGDBCC_00077 |
101546 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1119C>A |
Ser373Ser |
M0028603 |
CAPGDBCC_00077 |
101570 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1143G>A |
Lys381Lys |
M0028604 |
CAPGDBCC_00077 |
101576 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1149C>G |
Leu383Leu |
M0028605 |
CAPGDBCC_00077 |
101578 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1151C>A |
Thr384Asn |
M0028606 |
CAPGDBCC_00208 |
270171 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
57G>T |
Leu19Leu |
M0028607 |
CAPGDBCC_00208 |
270564 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
450A>C |
Ala150Ala |
M0028608 |
CAPGDBCC_00203 |
270710 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4686G>A |
None |
M0028609 |
CAPGDBCC_00203 |
270724 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4700A>G |
None |
M0028610 |
CAPGDBCC_00209 |
270840 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
815A>G |
Gln272Arg |
M0028611 |
CAPGDBCC_00139 |
174359 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
468G>T |
Trp156Cys |
M0028612 |
CAPGDBCC_00197 |
251980 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1170A>C |
Gly390Gly |
M0028613 |
CAPGDBCC_00197 |
252110 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1300T>C |
Ser434Pro |
M0028614 |
CAPGDBCC_00197 |
252133 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1323A>G |
Leu441Leu |
M0028615 |
CAPGDBCC_00197 |
252158 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1348T>C |
Ser450Pro |
M0028616 |
CAPGDBCC_00197 |
252179 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1369A>G |
Ile457Val |
M0028617 |
CAPGDBCC_00198 |
253065 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Ser194Ser |
M0028618 |
CAPGDBCC_00198 |
253068 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Ala195Ala |
M0028619 |
CAPGDBCC_00198 |
253071 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Pro196Pro |
M0028620 |
CAPGDBCC_00198 |
253089 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Gly202Gly |
M0028621 |
CAPGDBCC_00198 |
253138 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
655G>A |
Val219Ile |
M0028622 |
CAPGDBCC_00201 |
257804 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Leu13Leu |
M0028623 |
CAPGDBCC_00201 |
257810 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
45A>G |
Ala15Ala |
M0028624 |
CAPGDBCC_00201 |
257823 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
58C>T |
Leu20Leu |
M0028625 |
CAPGDBCC_00201 |
257828 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Ala21Ala |
M0028626 |
CAPGDBCC_00201 |
257900 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Pro45Pro |
M0028627 |
CAPGDBCC_00201 |
257903 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Asp46Asp |
M0028628 |
CAPGDBCC_00201 |
257913 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
148T>C |
Leu50Leu |
M0028629 |
CAPGDBCC_00201 |
257924 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0028630 |
CAPGDBCC_00201 |
257930 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165G>C |
Pro55Pro |
M0028631 |
CAPGDBCC_00201 |
257961 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
196G>A |
Val66Ile |
M0028632 |
CAPGDBCC_00201 |
257984 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Pro73Pro |
M0028633 |
CAPGDBCC_00201 |
258008 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Ser81Ser |
M0028634 |
CAPGDBCC_00201 |
258016 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
251G>A |
Ser84Asn |
M0028635 |
CAPGDBCC_00201 |
258107 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342G>C |
Leu114Leu |
M0028636 |
CAPGDBCC_00201 |
258140 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
375A>C |
Gly125Gly |
M0028637 |
CAPGDBCC_00201 |
258141 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
376C>T |
Leu126Leu |
M0028638 |
CAPGDBCC_00201 |
258221 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456A>C |
Thr152Thr |
M0028639 |
CAPGDBCC_00201 |
258269 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Arg168Arg |
M0028640 |
CAPGDBCC_00201 |
258308 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Gly181Gly |
M0028641 |
CAPGDBCC_00201 |
258389 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Asn208Asn |
M0028642 |
CAPGDBCC_00074 |
97878 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
92C>T |
Ala31Val |
M0028643 |
CAPGDBCC_00061 |
82832 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1914C>T |
Asp638Asp |
M0028644 |
CAPGDBCC_00063 |
83493 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-52A>C |
None |
M0028645 |
CAPGDBCC_00064 |
85309 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
794C>A |
Thr265Asn |
M0028646 |
CAPGDBCC_00064 |
85311 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
796A>G |
Ile266Val |
M0028647 |
CAPGDBCC_00194 |
249679 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
942G>A |
Leu314Leu |
M0028648 |
CAPGDBCC_00194 |
249364 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Glu209Glu |
M0028649 |
CAPGDBCC_00115 |
152207 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1788G>A |
Glu596Glu |
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 |
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 |