1 |
KCNJ11 |
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) |
SNV |
Pathogenic |
8666 |
rs80356624 |
11:17409037-17409037 |
11:17387490-17387490 |
2 |
KCNJ11 |
NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) |
SNV |
Pathogenic |
8668 |
rs80356625 |
11:17409038-17409038 |
11:17387491-17387491 |
3 |
KCNJ11 |
NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) |
SNV |
Pathogenic |
8670 |
rs80356611 |
11:17409490-17409490 |
11:17387943-17387943 |
4 |
KCNJ11 |
NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) |
SNV |
Pathogenic |
8671 |
rs80356621 |
11:17409130-17409130 |
11:17387583-17387583 |
5 |
KCNJ11 |
NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) |
SNV |
Pathogenic |
8672 |
rs80356622 |
11:17409129-17409129 |
11:17387582-17387582 |
6 |
INS-IGF2 |
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) |
SNV |
Pathogenic |
13387 |
rs80356671 |
11:2181128-2181128 |
11:2159898-2159898 |
7 |
INS-IGF2 |
NM_000207.3(INS):c.71C>A (p.Ala24Asp) |
SNV |
Pathogenic |
13388 |
rs80356663 |
11:2182131-2182131 |
11:2160901-2160901 |
8 |
INS-IGF2 |
NM_000207.3(INS):c.143T>G (p.Phe48Cys) |
SNV |
Pathogenic |
13389 |
rs80356668 |
11:2182059-2182059 |
11:2160829-2160829 |
9 |
GCK |
NM_000162.5(GCK):c.629T>A (p.Met210Lys) |
SNV |
Pathogenic |
16141 |
rs80356654 |
7:44189409-44189409 |
7:44149810-44149810 |
10 |
GCK |
NM_000162.5(GCK):c.1019+2T>G |
SNV |
Pathogenic |
21075 |
rs193929376 |
7:44186060-44186060 |
7:44146461-44146461 |
11 |
GCK |
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) |
SNV |
Pathogenic |
21076 |
rs193929374 |
7:44185216-44185216 |
7:44145617-44145617 |
12 |
GCK |
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) |
SNV |
Pathogenic |
21077 |
rs193929375 |
7:44185159-44185159 |
7:44145560-44145560 |
13 |
GCK |
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) |
SNV |
Pathogenic |
21078 |
rs193929373 |
7:44187322-44187322 |
7:44147723-44147723 |
14 |
INS-IGF2 |
NM_000207.3(INS):c.127T>G (p.Cys43Gly) |
SNV |
Pathogenic |
21114 |
rs80356666 |
11:2182075-2182075 |
11:2160845-2160845 |
15 |
INS-IGF2 |
NM_000207.3(INS):c.140G>T (p.Gly47Val) |
SNV |
Pathogenic |
21115 |
rs80356667 |
11:2182062-2182062 |
11:2160832-2160832 |
16 |
INS-IGF2 |
NM_000207.3(INS):c.265C>T (p.Arg89Cys) |
SNV |
Pathogenic |
21117 |
rs80356669 |
11:2181150-2181150 |
11:2159920-2159920 |
17 |
INS-IGF2 |
NM_000207.3(INS):c.268G>T (p.Gly90Cys) |
SNV |
Pathogenic |
21118 |
rs80356670 |
11:2181147-2181147 |
11:2159917-2159917 |
18 |
INS-IGF2 |
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) |
SNV |
Pathogenic |
21120 |
rs80356672 |
11:2181092-2181092 |
11:2159862-2159862 |
19 |
INS-IGF2 |
NM_000207.3(INS):c.94G>A (p.Gly32Ser) |
SNV |
Pathogenic |
21122 |
rs80356664 |
11:2182108-2182108 |
11:2160878-2160878 |
20 |
INS-IGF2 |
NM_000207.3(INS):c.94G>C (p.Gly32Arg) |
SNV |
Pathogenic |
21123 |
rs80356664 |
11:2182108-2182108 |
11:2160878-2160878 |
21 |
KCNJ11 |
NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp) |
SNV |
Pathogenic |
21193 |
rs193929358 |
11:17408638-17408638 |
11:17387091-17387091 |
22 |
KCNJ11 |
NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu) |
SNV |
Pathogenic |
21194 |
rs193929333 |
11:17409536-17409536 |
11:17387989-17387989 |
23 |
KCNJ11 |
NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val) |
SNV |
Pathogenic |
21195 |
rs193929333 |
11:17409536-17409536 |
11:17387989-17387989 |
24 |
KCNJ11 |
NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) |
SNV |
Pathogenic |
8676 |
rs80356610 |
11:17409515-17409515 |
11:17387968-17387968 |
25 |
KCNJ11 |
NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg) |
SNV |
Pathogenic |
21196 |
rs193929337 |
11:17409484-17409484 |
11:17387937-17387937 |
26 |
KCNJ11 |
NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) |
SNV |
Pathogenic |
8685 |
rs80356615 |
11:17409481-17409481 |
11:17387934-17387934 |
27 |
KCNJ11 |
NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) |
SNV |
Pathogenic |
8669 |
rs80356617 |
11:17409463-17409463 |
11:17387916-17387916 |
28 |
KCNJ11 |
NM_000525.3(KCNJ11):c.997T>A (p.Phe333Ile) |
SNV |
Pathogenic |
21205 |
rs193929357 |
11:17408642-17408642 |
11:17387095-17387095 |
29 |
KCNJ11 |
NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) |
SNV |
Pathogenic |
8667 |
rs80356616 |
11:17409464-17409464 |
11:17387917-17387917 |
30 |
INS-IGF2 |
NM_000207.3(INS):c.*59A>G |
SNV |
Pathogenic |
65581 |
rs397515519 |
11:2181023-2181023 |
11:2159793-2159793 |
31 |
INS-IGF2 |
NM_000207.3(INS):c.-39A>C |
SNV |
Pathogenic |
431444 |
rs1554921033 |
11:2182419-2182419 |
11:2161189-2161189 |
32 |
INS |
NM_000207.2(INS):c.-152C>A |
SNV |
Pathogenic |
431442 |
rs748749585 |
11:2182532-2182532 |
11:2161302-2161302 |
33 |
INS |
NM_000207.2(INS):c.-152C>G |
SNV |
Pathogenic |
431443 |
rs748749585 |
11:2182532-2182532 |
11:2161302-2161302 |
34 |
INS |
NM_000207.2(INS):c.-187_-164del |
Deletion |
Pathogenic |
431441 |
rs1135401727 |
11:2182544-2182567 |
11:2161314-2161337 |
35 |
INS-IGF2 |
NM_000207.2(INS):c.(?_-191)_(187_?)+1del |
Deletion |
Pathogenic |
431440 |
|
11:2182014-2182571 |
11:2160784-2161341 |
36 |
INS-IGF2 |
NM_000207.3(INS):c.3G>A (p.Met1Ile) |
SNV |
Pathogenic |
65587 |
rs397515521 |
11:2182199-2182199 |
11:2160969-2160969 |
37 |
INS-IGF2 |
NM_000207.3(INS):c.3G>T (p.Met1Ile) |
SNV |
Pathogenic |
65588 |
rs397515521 |
11:2182199-2182199 |
11:2160969-2160969 |
38 |
INS-IGF2 |
NM_000207.3(INS):c.188-31G>A |
SNV |
Pathogenic |
211186 |
rs797045623 |
11:2181258-2181258 |
11:2160028-2160028 |
39 |
KCNJ11 |
NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) |
SNV |
Pathogenic |
21204 |
rs193929356 |
11:17408650-17408650 |
11:17387103-17387103 |
40 |
KCNJ11 |
NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) |
SNV |
Pathogenic |
21203 |
rs193929355 |
11:17408675-17408675 |
11:17387128-17387128 |
41 |
KCNJ11 |
NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val) |
SNV |
Pathogenic |
21202 |
rs193929353 |
11:17408753-17408753 |
11:17387206-17387206 |
42 |
KCNJ11 |
NM_000525.3(KCNJ11):c.886A>C (p.Ile296Leu) |
SNV |
Pathogenic |
21201 |
rs193929353 |
11:17408753-17408753 |
11:17387206-17387206 |
43 |
KCNJ11 |
NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala) |
SNV |
Pathogenic |
21200 |
rs193929352 |
11:17408884-17408884 |
11:17387337-17387337 |
44 |
KCNJ11 |
NM_000525.3(KCNJ11):c.602G>T (p.Arg201Leu) |
SNV |
Pathogenic |
21199 |
rs80356624 |
11:17409037-17409037 |
11:17387490-17387490 |
45 |
KCNJ11 |
NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val) |
SNV |
Pathogenic |
21198 |
rs193929348 |
11:17409095-17409095 |
11:17387548-17387548 |
46 |
KCNJ11 |
NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu) |
SNV |
Pathogenic |
8680 |
rs80356620 |
11:17409140-17409140 |
11:17387593-17387593 |
47 |
KCNJ11 |
NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) |
SNV |
Pathogenic |
8679 |
rs80356618 |
11:17409142-17409142 |
11:17387595-17387595 |
48 |
KCNJ11 |
NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr) |
SNV |
Pathogenic |
21197 |
rs80356618 |
11:17409142-17409142 |
11:17387595-17387595 |
49 |
KCNJ11 |
NM_000525.3(KCNJ11):c.368dup (p.Ser124fs) |
Duplication |
Pathogenic |
522957 |
rs1554901822 |
11:17409270-17409271 |
11:17387723-17387724 |
50 |
GCK |
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) |
SNV |
Pathogenic |
265175 |
rs769268803 |
7:44187346-44187346 |
7:44147747-44147747 |