1 |
KCNH2 |
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) |
SNV |
Conflicting Interpretations Of Pathogenicity; Risk Factor
|
67509 |
rs36210422 |
GRCh37: 7:150655537-150655537 GRCh38: 7:150958449-150958449 |
2 |
KCNH2 |
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) |
SNV |
Pathogenic
|
180379 |
rs730880116 |
GRCh37: 7:150655378-150655378 GRCh38: 7:150958290-150958290 |
3 |
KCNH2 |
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) |
SNV |
Pathogenic
|
200518 |
rs794728403 |
GRCh37: 7:150644528-150644528 GRCh38: 7:150947440-150947440 |
4 |
KCNH2 |
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) |
SNV |
Pathogenic
|
29777 |
rs199472944 |
GRCh37: 7:150648640-150648640 GRCh38: 7:150951552-150951552 |
5 |
KCNH2 |
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) |
DEL |
Pathogenic
|
858435 |
rs1800958758 |
GRCh37: 7:150644741-150644741 GRCh38: 7:150947653-150947653 |
6 |
KCNH2 |
NM_000238.4(KCNH2):c.418del (p.Ser140fs) |
DEL |
Pathogenic
|
1338861 |
|
GRCh37: 7:150656714-150656714 GRCh38: 7:150959626-150959626 |
7 |
KCNH2 |
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) |
DUP |
Pathogenic
Pathogenic
|
200672 |
rs794728455 |
GRCh37: 7:150644883-150644884 GRCh38: 7:150947795-150947796 |
8 |
KCNH2 |
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) |
SNV |
Pathogenic
|
14441 |
rs121912514 |
GRCh37: 7:150644817-150644817 GRCh38: 7:150947729-150947729 |
9 |
KCNH2 |
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) |
SNV |
Pathogenic
|
14442 |
rs121912515 |
GRCh37: 7:150671808-150671808 GRCh38: 7:150974720-150974720 |
10 |
KCNH2 |
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) |
SNV |
Pathogenic
|
67225 |
rs199472918 |
GRCh37: 7:150648826-150648826 GRCh38: 7:150951738-150951738 |
11 |
KCNH2 |
NM_000238.4(KCNH2):c.453del (p.Thr152fs) |
DEL |
Pathogenic
|
200598 |
rs761863251 |
GRCh37: 7:150656679-150656679 GRCh38: 7:150959591-150959591 |
12 |
KCNH2 |
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) |
SNV |
Pathogenic
|
67279 |
rs199472936 |
GRCh37: 7:150648680-150648680 GRCh38: 7:150951592-150951592 |
13 |
KCNH2 |
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) |
SNV |
Pathogenic
|
180383 |
rs189014161 |
GRCh37: 7:150647424-150647424 GRCh38: 7:150950336-150950336 |
14 |
KCNH2 |
NM_000238.4(KCNH2):c.46del (p.Asp16fs) |
DEL |
Pathogenic
|
638156 |
rs1584885912 |
GRCh37: 7:150674956-150674956 GRCh38: 7:150977868-150977868 |
15 |
KCNH2 |
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) |
SNV |
Pathogenic
|
972695 |
rs199472892 |
GRCh37: 7:150649841-150649841 GRCh38: 7:150952753-150952753 |
16 |
KCNH2 |
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) |
DEL |
Pathogenic
|
979201 |
rs1801136696 |
GRCh37: 7:150648187-150648187 GRCh38: 7:150951099-150951099 |
17 |
KCNH2 |
NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter) |
SNV |
Pathogenic
|
1178326 |
|
GRCh37: 7:150649645-150649645 GRCh38: 7:150952557-150952557 |
18 |
KCNH2 |
NM_000238.4(KCNH2):c.2399-28del |
DEL |
Pathogenic
|
1064605 |
|
GRCh37: 7:150646165-150646165 GRCh38: 7:150949077-150949077 |
19 |
KCNH2 |
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) |
DUP |
Pathogenic
|
1527874 |
|
GRCh37: 7:150644902-150644903 GRCh38: 7:150947814-150947815 |
20 |
KCNH2 |
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) |
SNV |
Pathogenic
|
1527873 |
|
GRCh37: 7:150649673-150649673 GRCh38: 7:150952585-150952585 |
21 |
KCNH2 |
NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs) |
DEL |
Pathogenic
|
1675096 |
|
GRCh37: 7:150648878-150648899 GRCh38: 7:150951790-150951811 |
22 |
KCNQ1 |
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) |
SNV |
Pathogenic
|
3120 |
rs12720459 |
GRCh37: 11:2604765-2604765 GRCh38: 11:2583535-2583535 |
23 |
SCN5A |
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) |
SNV |
Pathogenic
|
9402 |
rs137854619 |
GRCh37: 3:38592408-38592408 GRCh38: 3:38550917-38550917 |
24 |
KCNE1 |
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) |
SNV |
Pathogenic
|
13479 |
rs1805128 |
GRCh37: 21:35821680-35821680 GRCh38: 21:34449382-34449382 |
25 |
KCNH2 |
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) |
SNV |
Pathogenic
|
14420 |
rs121912504 |
GRCh37: 7:150648799-150648799 GRCh38: 7:150951711-150951711 |
26 |
KCNH2 |
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) |
SNV |
Pathogenic
|
14424 |
rs121912506 |
GRCh37: 7:150646072-150646072 GRCh38: 7:150948984-150948984 |
27 |
KCNH2 |
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) |
SNV |
Pathogenic
|
14427 |
rs121912507 |
GRCh37: 7:150648599-150648599 GRCh38: 7:150951511-150951511 |
28 |
KCNH2 |
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) |
SNV |
Pathogenic
|
14428 |
rs121912508 |
GRCh37: 7:150648737-150648737 GRCh38: 7:150951649-150951649 |
29 |
KCNH2 |
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) |
SNV |
Pathogenic
|
14431 |
rs121912509 |
GRCh37: 7:150644565-150644565 GRCh38: 7:150947477-150947477 |
30 |
KCNH2 |
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) |
SNV |
Pathogenic
|
14432 |
rs121912510 |
GRCh37: 7:150646083-150646083 GRCh38: 7:150948995-150948995 |
31 |
KCNQ1 |
NM_000218.3(KCNQ1):c.562del (p.Trp188fs) |
DEL |
Pathogenic
|
53067 |
rs397508116 |
GRCh37: 11:2591942-2591942 GRCh38: 11:2570712-2570712 |
32 |
KCNQ1 |
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro) |
SNV |
Pathogenic
|
3150 |
rs120074196 |
GRCh37: 11:2593287-2593287 GRCh38: 11:2572057-2572057 |
33 |
KCNH2 |
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) |
SNV |
Pathogenic
|
14421 |
rs121912505 |
GRCh37: 7:150649662-150649662 GRCh38: 7:150952574-150952574 |
34 |
KCNH2 |
NM_000238.4(KCNH2):c.2398+1G>C |
SNV |
Pathogenic
|
200444 |
rs794728391 |
GRCh37: 7:150647255-150647255 GRCh38: 7:150950167-150950167 |
35 |
KCNH2 |
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) |
SNV |
Pathogenic
|
14423 |
rs28928904 |
GRCh37: 7:150648703-150648703 GRCh38: 7:150951615-150951615 |
36 |
KCNH2 |
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) |
DEL |
Pathogenic
|
200638 |
rs794728438 |
GRCh37: 7:150649546-150649572 GRCh38: 7:150952458-150952484 |
37 |
KCNH2 |
NM_000238.4(KCNH2):c.1261del (p.Thr421fs) |
DEL |
Pathogenic
|
14426 |
rs1554426258 |
GRCh37: 7:150649809-150649809 GRCh38: 7:150952721-150952721 |
38 |
KCNH2 |
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) |
SNV |
Pathogenic
|
14429 |
rs9333649 |
GRCh37: 7:150648767-150648767 GRCh38: 7:150951679-150951679 |
39 |
KCNH2 |
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) |
SNV |
Pathogenic
|
14434 |
rs121912511 |
GRCh37: 7:150671913-150671913 GRCh38: 7:150974825-150974825 |
40 |
KCNH2 |
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) |
SNV |
Pathogenic
|
14435 |
rs121912512 |
GRCh37: 7:150647399-150647399 GRCh38: 7:150950311-150950311 |
41 |
KCNH2 |
NM_000238.4(KCNH2):c.2592+1G>A |
SNV |
Pathogenic
|
14438 |
rs1554424772 |
GRCh37: 7:150645943-150645943 GRCh38: 7:150948855-150948855 |
42 |
KCNH2 |
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) |
SNV |
Pathogenic
Pathogenic
|
14440 |
rs121912513 |
GRCh37: 7:150645954-150645954 GRCh38: 7:150948866-150948866 |
43 |
KCNH2 |
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) |
SNV |
Pathogenic
|
14444 |
rs121912516 |
GRCh37: 7:150648809-150648809 GRCh38: 7:150951721-150951721 |
44 |
KCNH2 |
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His) |
SNV |
Pathogenic
|
29778 |
rs199472942 |
GRCh37: 7:150648650-150648650 GRCh38: 7:150951562-150951562 |
45 |
KCNH2 |
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) |
SNV |
Pathogenic
|
157662 |
rs587777907 |
GRCh37: 7:150655407-150655407 GRCh38: 7:150958319-150958319 |
46 |
KCNH2 |
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) |
SNV |
Pathogenic
|
67543 |
rs199472884 |
GRCh37: 7:150655147-150655147 GRCh38: 7:150958059-150958059 |
47 |
KCNH2 |
NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala) |
SNV |
Pathogenic
|
218093 |
rs863225288 |
GRCh37: 7:150648695-150648695 GRCh38: 7:150951607-150951607 |
48 |
KCNH2 |
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) |
SNV |
Pathogenic
|
67385 |
rs199472995 |
GRCh37: 7:150647334-150647334 GRCh38: 7:150950246-150950246 |
49 |
KCNH2 |
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) |
SNV |
Pathogenic
|
67336 |
rs199472970 |
GRCh37: 7:150648561-150648561 GRCh38: 7:150951473-150951473 |
50 |
KCNH2 |
NM_000238.4(KCNH2):c.2038del (p.Val680fs) |
DEL |
Pathogenic
|
427944 |
rs1554425498 |
GRCh37: 7:150648116-150648116 GRCh38: 7:150951028-150951028 |