1 |
KCNJ11 |
NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu) |
SNV |
Likely Risk Allele
|
1679512 |
rs80356611 |
GRCh37: 11:17409490-17409490 GRCh38: 11:17387943-17387943 |
2 |
ZFP57 |
NM_001109809.5(ZFP57):c.317_318del (p.Glu106fs) |
MICROSAT |
Pathogenic
|
716 |
rs606231121 |
GRCh37: 6:29643197-29643198 GRCh38: 6:29675420-29675421 |
3 |
ZFP57 |
NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs) |
DEL |
Pathogenic
|
717 |
rs606231122 |
GRCh37: 6:29640505-29640505 GRCh38: 6:29672728-29672728 |
4 |
ZFP57 |
NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp) |
SNV |
Pathogenic
|
718 |
rs79020217 |
GRCh37: 6:29640516-29640516 GRCh38: 6:29672739-29672739 |
5 |
ZFP57 |
NM_001109809.5(ZFP57):c.743G>A (p.Arg248His) |
SNV |
Pathogenic
|
719 |
rs77625743 |
GRCh37: 6:29641145-29641145 GRCh38: 6:29673368-29673368 |
6 |
ZFP57 |
NM_001109809.5(ZFP57):c.829C>A (p.His277Asn) |
SNV |
Pathogenic
|
720 |
rs78378398 |
GRCh37: 6:29641059-29641059 GRCh38: 6:29673282-29673282 |
7 |
ZFP57 |
NM_001109809.5(ZFP57):c.898_905del (p.Gly299_Thr300insTer) |
DEL |
Pathogenic
|
721 |
rs606231123 |
GRCh37: 6:29640983-29640990 GRCh38: 6:29673206-29673213 |
8 |
ZFP57 |
NM_001109809.5(ZFP57):c.133del (p.Thr45fs) |
DEL |
Pathogenic
|
1323781 |
|
GRCh37: 6:29643827-29643827 GRCh38: 6:29676050-29676050 |
9 |
ZFP57 |
NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) |
SNV |
Pathogenic
|
715 |
rs61730328 |
GRCh37: 6:29641105-29641105 GRCh38: 6:29673328-29673328 |
10 |
ZFP57 |
NM_001109809.5(ZFP57):c.711dup (p.Lys238fs) |
DUP |
Likely Pathogenic
|
1325370 |
|
GRCh37: 6:29641176-29641177 GRCh38: 6:29673399-29673400 |
11 |
ZFP57 |
NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter) |
SNV |
Likely Pathogenic
|
1325371 |
|
GRCh37: 6:29641440-29641440 GRCh38: 6:29673663-29673663 |
12 |
KCNJ11 |
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) |
SNV |
Likely Pathogenic
|
8681 |
rs35513985 |
GRCh37: 11:17409482-17409482 GRCh38: 11:17387935-17387935 |
13 |
ABCC8 |
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) |
SNV |
Uncertain Significance
|
1112579 |
rs193922403 |
GRCh37: 11:17416762-17416762 GRCh38: 11:17395215-17395215 |
14 |
ABCC8, LOC110121471 |
NM_000352.6(ABCC8):c.2390+93C>T |
SNV |
Uncertain Significance
|
1177450 |
rs4148630 |
GRCh37: 11:17435966-17435966 GRCh38: 11:17414419-17414419 |
15 |
ABCC8 |
NM_000352.6(ABCC8):c.2256-50T>C |
SNV |
Uncertain Significance
|
1177451 |
rs4148626 |
GRCh37: 11:17436936-17436936 GRCh38: 11:17415389-17415389 |
16 |
ABCC8 |
NM_000352.6(ABCC8):c.579+9G>A |
SNV |
Uncertain Significance
|
754084 |
rs776165640 |
GRCh37: 11:17484976-17484976 GRCh38: 11:17463429-17463429 |
17 |
ABCC8 |
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) |
SNV |
Uncertain Significance
|
878930 |
rs776498313 |
GRCh37: 11:17482113-17482113 GRCh38: 11:17460566-17460566 |
18 |
ABCC8 |
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) |
SNV |
Uncertain Significance
|
752571 |
rs1256418853 |
GRCh37: 11:17474747-17474747 GRCh38: 11:17453200-17453200 |
19 |
ABCC8 |
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) |
SNV |
Uncertain Significance
|
303780 |
rs146156937 |
GRCh37: 11:17450115-17450115 GRCh38: 11:17428568-17428568 |
20 |
ABCC8 |
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) |
MICROSAT |
Uncertain Significance
|
550226 |
rs1263082097 |
GRCh37: 11:17426167-17426168 GRCh38: 11:17404620-17404621 |
21 |
ABCC8 |
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) |
SNV |
Uncertain Significance
|
587475 |
rs1564890766 |
GRCh37: 11:17427094-17427094 GRCh38: 11:17405547-17405547 |
22 |
ABCC8 |
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) |
SNV |
Uncertain Significance
|
587515 |
rs149331388 |
GRCh37: 11:17418531-17418531 GRCh38: 11:17396984-17396984 |
23 |
ABCC8 |
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) |
SNV |
Uncertain Significance
|
996301 |
rs1484689392 |
GRCh37: 11:17434248-17434248 GRCh38: 11:17412701-17412701 |
24 |
ABCC8, LOC110121471 |
NM_000352.6(ABCC8):c.2292-1G>A |
SNV |
Uncertain Significance
|
9090 |
rs1564905676 |
GRCh37: 11:17436158-17436158 GRCh38: 11:17414611-17414611 |
25 |
ABCC8 |
NM_000352.6(ABCC8):c.2695-1G>C |
SNV |
Uncertain Significance
|
371626 |
rs1057517420 |
GRCh37: 11:17430065-17430065 GRCh38: 11:17408518-17408518 |
26 |
ABCC8 |
NM_000352.6(ABCC8):c.1332+17G>C |
SNV |
Uncertain Significance
|
35603 |
rs193922395 |
GRCh37: 11:17470046-17470046 GRCh38: 11:17448499-17448499 |
27 |
ABCC8 |
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) |
SNV |
Uncertain Significance
|
217846 |
rs863225280 |
GRCh37: 11:17483269-17483269 GRCh38: 11:17461722-17461722 |
28 |
ABCC8 |
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) |
DUP |
Uncertain Significance
|
371346 |
rs1057517199 |
GRCh37: 11:17483367-17483368 GRCh38: 11:17461820-17461821 |
29 |
ABCC8 |
NM_000352.6(ABCC8):c.291-2A>G |
SNV |
Uncertain Significance
|
189097 |
rs786204695 |
GRCh37: 11:17491771-17491771 GRCh38: 11:17470224-17470224 |
30 |
ABCC8 |
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) |
SNV |
Uncertain Significance
|
633027 |
rs1564977373 |
GRCh37: 11:17483257-17483257 GRCh38: 11:17461710-17461710 |
31 |
ABCC8 |
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) |
DEL |
Uncertain Significance
|
446765 |
rs1260178539 |
GRCh37: 11:17453788-17453788 GRCh38: 11:17432241-17432241 |
32 |
ABCC8 |
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) |
SNV |
Uncertain Significance
|
1069205 |
rs1591832463 |
GRCh37: 11:17464280-17464280 GRCh38: 11:17442733-17442733 |
33 |
ABCC8 |
NM_000352.6(ABCC8):c.1671+1G>C |
SNV |
Uncertain Significance
|
370464 |
rs1057516509 |
GRCh37: 11:17453750-17453750 GRCh38: 11:17432203-17432203 |
34 |
ABCC8 |
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) |
MICROSAT |
Uncertain Significance
|
9100 |
rs387906408 |
GRCh37: 11:17417438-17417440 GRCh38: 11:17395891-17395893 |
35 |
ABCC8 |
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) |
SNV |
Uncertain Significance
|
157697 |
rs149861153 |
GRCh37: 11:17424246-17424246 GRCh38: 11:17402699-17402699 |
36 |
ABCC8 |
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) |
DEL |
Uncertain Significance
|
196880 |
rs151344624 |
GRCh37: 11:17417435-17417437 GRCh38: 11:17395888-17395890 |
37 |
ABCC8 |
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) |
SNV |
Uncertain Significance
|
303748 |
rs367862706 |
GRCh37: 11:17414637-17414637 GRCh38: 11:17393090-17393090 |
38 |
ABCC8 |
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) |
SNV |
Uncertain Significance
|
303763 |
rs371089976 |
GRCh37: 11:17426181-17426181 GRCh38: 11:17404634-17404634 |
39 |
ABCC8 |
NM_000352.6(ABCC8):c.4119+18A>G |
SNV |
Uncertain Significance
|
585345 |
rs75967811 |
GRCh37: 11:17418445-17418445 GRCh38: 11:17396898-17396898 |
40 |
ABCC8 |
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) |
SNV |
Uncertain Significance
|
446767 |
rs192863214 |
GRCh37: 11:17428597-17428597 GRCh38: 11:17407050-17407050 |
41 |
ABCC8 |
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) |
SNV |
Uncertain Significance
|
795504 |
rs747902103 |
GRCh37: 11:17448640-17448640 GRCh38: 11:17427093-17427093 |
42 |
ABCC8 |
NM_000352.4(ABCC8):c.-544G>A |
SNV |
Uncertain Significance
|
434041 |
rs184908312 |
GRCh37: 11:17498867-17498867 GRCh38: 11:17477320-17477320 |
43 |
ABCC8 |
NM_000352.6(ABCC8):c.725del (p.Lys242fs) |
DEL |
Uncertain Significance
|
958131 |
rs1957196622 |
GRCh37: 11:17483227-17483227 GRCh38: 11:17461680-17461680 |
44 |
ABCC8 |
NM_000352.6(ABCC8):c.639G>A (p.Leu213=) |
SNV |
Uncertain Significance
|
1112025 |
rs1483834388 |
GRCh37: 11:17483313-17483313 GRCh38: 11:17461766-17461766 |
45 |
ABCC8 |
NM_000352.6(ABCC8):c.354C>T (p.Val118=) |
SNV |
Uncertain Significance
|
255930 |
rs137873871 |
GRCh37: 11:17491706-17491706 GRCh38: 11:17470159-17470159 |
46 |
ABCC8 |
NM_000352.4(ABCC8):c.-215_-214del |
DEL |
Uncertain Significance
|
434038 |
rs902564696 |
GRCh37: 11:17498537-17498538 GRCh38: 11:17476990-17476991 |
47 |
ABCC8 |
NM_000352.6(ABCC8):c.414C>T (p.Ala138=) |
SNV |
Uncertain Significance
|
991065 |
rs372766371 |
GRCh37: 11:17485150-17485150 GRCh38: 11:17463603-17463603 |
48 |
ABCC8 |
NM_000352.4(ABCC8):c.-215G>C |
SNV |
Uncertain Significance
|
434039 |
rs546148657 |
GRCh37: 11:17498538-17498538 GRCh38: 11:17476991-17476991 |
49 |
ABCC8 |
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) |
SNV |
Uncertain Significance
|
35604 |
rs61748766 |
GRCh37: 11:17464325-17464325 GRCh38: 11:17442778-17442778 |
50 |
ABCC8 |
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) |
SNV |
Uncertain Significance
|
157685 |
rs75376282 |
GRCh37: 11:17449950-17449950 GRCh38: 11:17428403-17428403 |