1 |
EVC2 |
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) |
DEL |
Pathogenic
|
3388 |
rs587776568 |
GRCh37: 4:5564709-5564709 GRCh38: 4:5562982-5562982 |
2 |
EVC2 |
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) |
SNV |
Pathogenic
|
102430 |
rs1577093161 |
GRCh37: 4:5564705-5564705 GRCh38: 4:5562978-5562978 |
3 |
EVC2 |
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) |
SNV |
Pathogenic
|
102431 |
rs1577093161 |
GRCh37: 4:5564705-5564705 GRCh38: 4:5562978-5562978 |
4 |
EVC2 |
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) |
SNV |
Pathogenic
|
102432 |
rs1560121645 |
GRCh37: 4:5564697-5564697 GRCh38: 4:5562970-5562970 |
5 |
EVC |
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) |
SNV |
Pathogenic
|
530945 |
rs1446547358 |
GRCh37: 4:5800451-5800451 GRCh38: 4:5798724-5798724 |
6 |
EVC |
NM_153717.3(EVC):c.873dup (p.Glu292Ter) |
DUP |
Pathogenic
|
551674 |
rs527255616 |
GRCh37: 4:5747001-5747002 GRCh38: 4:5745274-5745275 |
7 |
EVC2 |
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) |
SNV |
Pathogenic
|
3383 |
rs137852924 |
GRCh37: 4:5642516-5642516 GRCh38: 4:5640789-5640789 |
8 |
EVC2 |
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) |
SNV |
Pathogenic
|
194442 |
rs751356206 |
GRCh37: 4:5624502-5624502 GRCh38: 4:5622775-5622775 |
9 |
EVC |
NM_153717.3(EVC):c.724dup (p.Met242fs) |
DUP |
Pathogenic
|
645928 |
rs1577395250 |
GRCh37: 4:5743460-5743461 GRCh38: 4:5741733-5741734 |
10 |
EVC2 |
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) |
SNV |
Pathogenic
|
647337 |
rs144167138 |
GRCh37: 4:5578034-5578034 GRCh38: 4:5576307-5576307 |
11 |
EVC2 |
NC_000004.12:g.(?_5689147)_(5689353_?)del |
DEL |
Pathogenic
|
647967 |
|
GRCh37: 4:5690874-5691080 GRCh38: 4:5689147-5689353 |
12 |
EVC |
NM_153717.3(EVC):c.1694del (p.Ala565fs) |
DEL |
Pathogenic
|
551227 |
rs753014919 |
GRCh37: 4:5785409-5785409 GRCh38: 4:5783682-5783682 |
13 |
EVC |
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) |
SNV |
Pathogenic
|
5340 |
rs121908425 |
GRCh37: 4:5749953-5749953 GRCh38: 4:5748226-5748226 |
14 |
EVC2 |
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) |
SNV |
Pathogenic
|
656440 |
rs781623802 |
GRCh37: 4:5624673-5624673 GRCh38: 4:5622946-5622946 |
15 |
EVC2 |
NC_000004.12:g.(?_5562848)_(5565369_?)del |
DEL |
Pathogenic
|
830808 |
|
GRCh37: 4:5564575-5567096 GRCh38: |
16 |
overlap with 2 genes |
NC_000004.12:g.(?_5562838)_(5758135_?)del |
DEL |
Pathogenic
|
832223 |
|
GRCh37: 4:5564565-5759862 GRCh38: |
17 |
EVC2 |
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) |
DUP |
Pathogenic
|
555651 |
rs1553855127 |
GRCh37: 4:5710114-5710115 GRCh38: 4:5708387-5708388 |
18 |
EVC |
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) |
SNV |
Pathogenic
|
835115 |
rs374752679 |
GRCh37: 4:5803818-5803818 GRCh38: 4:5802091-5802091 |
19 |
EVC2 |
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) |
DUP |
Pathogenic
|
838376 |
rs1722452431 |
GRCh37: 4:5570272-5570273 GRCh38: 4:5568545-5568546 |
20 |
EVC2 |
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) |
SNV |
Pathogenic
|
280117 |
rs548681312 |
GRCh37: 4:5624289-5624289 GRCh38: 4:5622562-5622562 |
21 |
EVC |
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) |
SNV |
Pathogenic
|
839382 |
rs774949132 |
GRCh37: 4:5798876-5798876 GRCh38: 4:5797149-5797149 |
22 |
EVC |
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) |
SNV |
Pathogenic
|
5339 |
rs121908424 |
GRCh37: 4:5810001-5810001 GRCh38: 4:5808274-5808274 |
23 |
EVC2 |
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) |
DEL |
Pathogenic
|
555475 |
rs1420414097 |
GRCh37: 4:5710033-5710042 GRCh38: 4:5708306-5708315 |
24 |
EVC2 |
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) |
SNV |
Pathogenic
|
845073 |
rs1715453232 |
GRCh37: 4:5620372-5620372 GRCh38: 4:5618645-5618645 |
25 |
EVC2 |
NC_000004.12:g.(?_5568434)_(5568650_?)del |
DEL |
Pathogenic
|
830445 |
|
GRCh37: 4:5570161-5570377 GRCh38: |
26 |
EVC2 |
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) |
SNV |
Pathogenic
|
846041 |
rs200560762 |
GRCh37: 4:5578099-5578099 GRCh38: 4:5576372-5576372 |
27 |
EVC |
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) |
SNV |
Pathogenic
|
451398 |
rs1553891936 |
GRCh37: 4:5800379-5800379 GRCh38: 4:5798652-5798652 |
28 |
EVC2 |
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) |
DUP |
Pathogenic
|
851655 |
rs1722814486 |
GRCh37: 4:5576425-5576426 GRCh38: 4:5574698-5574699 |
29 |
EVC2 |
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) |
SNV |
Pathogenic
|
658689 |
rs1577170055 |
GRCh37: 4:5624397-5624397 GRCh38: 4:5622670-5622670 |
30 |
EVC |
NC_000004.12:g.(?_5797002)_(5797252_?)del |
DEL |
Pathogenic
|
583701 |
|
GRCh37: 4:5798729-5798979 GRCh38: 4:5797002-5797252 |
31 |
EVC2 |
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) |
SNV |
Pathogenic
|
580714 |
rs748820015 |
GRCh37: 4:5696171-5696171 GRCh38: 4:5694444-5694444 |
32 |
EVC2 |
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) |
DEL |
Pathogenic
|
550552 |
rs1221185345 |
GRCh37: 4:5710090-5710099 GRCh38: 4:5708363-5708372 |
33 |
EVC2 |
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) |
SNV |
Pathogenic
|
554547 |
rs760382778 |
GRCh37: 4:5620291-5620291 GRCh38: 4:5618564-5618564 |
34 |
EVC2 |
NM_147127.5(EVC2):c.392dup (p.Pro132fs) |
DUP |
Pathogenic
|
575995 |
rs774416029 |
GRCh37: 4:5696119-5696120 GRCh38: 4:5694392-5694393 |
35 |
EVC |
NM_153717.3(EVC):c.155del (p.Arg52fs) |
DEL |
Pathogenic
|
848615 |
rs1439712140 |
GRCh37: 4:5713262-5713262 GRCh38: 4:5711535-5711535 |
36 |
EVC2 |
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) |
SNV |
Pathogenic
|
848665 |
rs1284395468 |
GRCh37: 4:5633624-5633624 GRCh38: 4:5631897-5631897 |
37 |
EVC2 |
NM_147127.5(EVC2):c.871-2_894del |
DEL |
Pathogenic
|
553798 |
rs755789146 |
GRCh37: 4:5667353-5667378 GRCh38: 4:5665626-5665651 |
38 |
EVC |
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) |
SNV |
Pathogenic
|
850722 |
rs767400887 |
GRCh37: 4:5811287-5811287 GRCh38: 4:5809560-5809560 |
39 |
EVC2 |
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) |
SNV |
Pathogenic
|
851235 |
rs999964757 |
GRCh37: 4:5690922-5690922 GRCh38: 4:5689195-5689195 |
40 |
EVC2 |
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) |
MICROSAT |
Pathogenic
|
854737 |
rs1722451930 |
GRCh37: 4:5570266-5570267 GRCh38: 4:5568539-5568540 |
41 |
EVC2 |
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) |
MICROSAT |
Pathogenic
|
854827 |
rs758841632 |
GRCh37: 4:5683030-5683031 GRCh38: 4:5681303-5681304 |
42 |
EVC2 |
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) |
SNV |
Pathogenic
|
855091 |
rs1282621867 |
GRCh37: 4:5624367-5624367 GRCh38: 4:5622640-5622640 |
43 |
EVC2 |
NM_147127.5(EVC2):c.3659+2T>C |
SNV |
Pathogenic
|
348980 |
rs200300612 |
GRCh37: 4:5566983-5566983 GRCh38: 4:5565256-5565256 |
44 |
EVC2 |
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) |
DEL |
Pathogenic
|
195541 |
rs750396637 |
GRCh37: 4:5570317-5570323 GRCh38: 4:5568590-5568596 |
45 |
EVC |
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) |
SNV |
Pathogenic
|
445803 |
rs896581899 |
GRCh37: 4:5812104-5812104 GRCh38: 4:5810377-5810377 |
46 |
EVC2 |
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) |
DEL |
Pathogenic
|
949041 |
rs1715829134 |
GRCh37: 4:5624695-5624696 GRCh38: 4:5622968-5622969 |
47 |
EVC2 |
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) |
INSERT |
Pathogenic
|
950482 |
rs1717259479 |
GRCh37: 4:5642369-5642370 GRCh38: 4:5640642-5640643 |
48 |
EVC2 |
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) |
DEL |
Pathogenic
|
950483 |
rs1368193719 |
GRCh37: 4:5683033-5683036 GRCh38: 4:5681306-5681309 |
49 |
EVC |
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) |
SNV |
Pathogenic
|
951117 |
rs553634958 |
GRCh37: 4:5733379-5733379 GRCh38: 4:5731652-5731652 |
50 |
EVC |
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) |
SNV |
Pathogenic
|
951422 |
rs1714412021 |
GRCh37: 4:5800361-5800361 GRCh38: 4:5798634-5798634 |