1 |
HNF1B |
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) |
deletion |
Pathogenic |
446150 |
rs1555833071 |
17:36104643-36104646 |
17:37744652-37744655 |
2 |
HNF1B |
NM_000458.4(HNF1B):c.344+1G>A |
SNV |
Pathogenic |
447512 |
rs1555832998 |
17:36104531-36104531 |
17:37744540-37744540 |
3 |
HNF1B |
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) |
deletion |
Pathogenic |
522424 |
rs1555833144 |
17:36104755-36104755 |
17:37744764-37744764 |
4 |
HNF1B |
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) |
deletion |
Pathogenic |
586803 |
rs1568665590 |
17:36093570-36093570 |
17:37733577-37733577 |
5 |
HNF1B |
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs) |
duplication |
Pathogenic |
586802 |
rs1568665905 |
17:36093723-36093724 |
17:37733730-37733731 |
6 |
HNF1B |
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) |
SNV |
Pathogenic |
586801 |
rs1568670481 |
17:36099431-36099431 |
17:37739440-37739440 |
7 |
HNF1B |
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter) |
SNV |
Pathogenic |
586799 |
rs1568670702 |
17:36099536-36099536 |
17:37739545-37739545 |
8 |
HNF1B |
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter) |
SNV |
Pathogenic |
620126 |
rs1568670533 |
17:36099462-36099462 |
17:37739471-37739471 |
9 |
HNF1B |
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs) |
duplication |
Pathogenic |
635577 |
|
17:36059173-36059174 |
17:37699167-37699168 |
10 |
HNF1B |
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter) |
SNV |
Pathogenic |
635583 |
|
17:36061093-36061093 |
17:37701088-37701088 |
11 |
HNF1B |
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) |
duplication |
Pathogenic |
635584 |
|
17:36061108-36061109 |
17:37701103-37701104 |
12 |
HNF1B |
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter) |
SNV |
Pathogenic |
635585 |
|
17:36061114-36061114 |
17:37701109-37701109 |
13 |
HNF1B |
NM_000458.4(HNF1B):c.1361_1362AG[1] (p.Ser455fs) |
short repeat |
Pathogenic |
635586 |
|
17:36061158-36061159 |
17:37701153-37701154 |
14 |
HNF1B |
NM_000458.4(HNF1B):c.1358_1359CA[1] (p.Gln454fs) |
short repeat |
Pathogenic |
635587 |
|
17:36061161-36061162 |
17:37701156-37701157 |
15 |
HNF1B |
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter) |
SNV |
Pathogenic |
635588 |
|
17:36061162-36061162 |
17:37701157-37701157 |
16 |
HNF1B |
NM_000458.4(HNF1B):c.1235dup (p.Val413fs) |
duplication |
Pathogenic |
635596 |
|
17:36065027-36065028 |
17:37705020-37705021 |
17 |
HNF1B |
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu) |
deletion |
Pathogenic |
635603 |
|
17:36070570-36070599 |
17:37710562-37710591 |
18 |
HNF1B |
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs) |
deletion |
Pathogenic |
635602 |
|
17:36070570-36070598 |
17:37710562-37710590 |
19 |
HNF1B |
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter) |
SNV |
Pathogenic |
635604 |
|
17:36070573-36070573 |
17:37710565-37710565 |
20 |
HNF1B |
NM_000458.4(HNF1B):c.1138del (p.Val380fs) |
deletion |
Pathogenic |
635605 |
|
17:36070579-36070579 |
17:37710571-37710571 |
21 |
HNF1B |
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter) |
SNV |
Pathogenic |
635606 |
|
17:36070581-36070581 |
17:37710573-37710573 |
22 |
HNF1B |
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs) |
deletion |
Pathogenic |
635607 |
|
17:36070618-36070621 |
17:37710610-37710613 |
23 |
HNF1B |
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer) |
deletion |
Pathogenic |
635592 |
|
17:36064961-36064961 |
17:37704954-37704954 |
24 |
HNF1B |
NM_000458.4(HNF1B):c.1299del (p.Ile434fs) |
deletion |
Pathogenic |
635593 |
|
17:36064964-36064964 |
17:37704957-37704957 |
25 |
HNF1B |
NM_000458.4(HNF1B):c.1517del (p.Gln506fs) |
deletion |
Pathogenic |
635580 |
|
17:36061005-36061005 |
17:37701000-37701000 |
26 |
HNF1B |
NM_000458.4(HNF1B):c.1048dup (p.Val350fs) |
duplication |
Pathogenic |
635609 |
|
17:36070668-36070669 |
17:37710660-37710661 |
27 |
HNF1B |
NM_000458.4(HNF1B):c.1006dup (p.His336fs) |
duplication |
Pathogenic |
635617 |
|
17:36091624-36091625 |
17:37731633-37731634 |
28 |
HNF1B |
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs) |
deletion |
Pathogenic |
635618 |
|
17:36091645-36091649 |
17:37731654-37731658 |
29 |
HNF1B |
NM_000458.4(HNF1B):c.983del (p.Pro328fs) |
deletion |
Pathogenic |
635619 |
|
17:36091648-36091648 |
17:37731657-37731657 |
30 |
HNF1B |
NM_000458.4(HNF1B):c.970_971CA[1] (p.His324fs) |
short repeat |
Pathogenic |
635620 |
|
17:36091658-36091659 |
17:37731667-37731668 |
31 |
HNF1B |
NM_000458.4(HNF1B):c.967dup (p.Thr323fs) |
duplication |
Pathogenic |
635621 |
|
17:36091663-36091664 |
17:37731672-37731673 |
32 |
HNF1B |
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter) |
duplication |
Pathogenic |
635622 |
|
17:36091677-36091678 |
17:37731686-37731687 |
33 |
HNF1B |
NM_000458.4(HNF1B):c.949del (p.Ala317fs) |
deletion |
Pathogenic |
635623 |
|
17:36091682-36091682 |
17:37731691-37731691 |
34 |
HNF1B |
NM_000458.4(HNF1B):c.1009dup (p.His337fs) |
duplication |
Pathogenic |
635614 |
|
17:36091621-36091622 |
17:37731630-37731631 |
35 |
HNF1B |
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter) |
SNV |
Pathogenic |
635625 |
|
17:36091700-36091700 |
17:37731709-37731709 |
36 |
HNF1B |
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys) |
SNV |
Pathogenic |
635631 |
|
17:36091748-36091748 |
17:37731757-37731757 |
37 |
HNF1B |
NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter) |
SNV |
Pathogenic |
635632 |
|
17:36091762-36091762 |
17:37731771-37731771 |
38 |
HNF1B |
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp) |
SNV |
Pathogenic |
635633 |
|
17:36091766-36091766 |
17:37731775-37731775 |
39 |
HNF1B |
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp) |
SNV |
Pathogenic |
635636 |
|
17:36091777-36091777 |
17:37731786-37731786 |
40 |
HNF1B |
NM_000458.4(HNF1B):c.850del (p.His284fs) |
deletion |
Pathogenic |
635637 |
|
17:36091781-36091781 |
17:37731790-37731790 |
41 |
HNF1B |
NM_000458.4(HNF1B):c.840del (p.Ser281fs) |
deletion |
Pathogenic |
635638 |
|
17:36091791-36091791 |
17:37731800-37731800 |
42 |
HNF1B |
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) |
duplication |
Pathogenic |
635639 |
|
17:36091790-36091791 |
17:37731799-37731800 |
43 |
HNF1B |
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln) |
SNV |
Pathogenic |
635641 |
|
17:36091804-36091804 |
17:37731813-37731813 |
44 |
HNF1B |
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter) |
SNV |
Pathogenic |
635642 |
|
17:36091808-36091808 |
17:37731817-37731817 |
45 |
HNF1B |
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs) |
duplication |
Pathogenic |
635649 |
|
17:36093571-36093572 |
17:37733578-37733579 |
46 |
HNF1B |
NM_000458.4(HNF1B):c.727del (p.Gln243fs) |
deletion |
Pathogenic |
635656 |
|
17:36093632-36093632 |
17:37733639-37733639 |
47 |
HNF1B |
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) |
duplication |
Pathogenic |
635657 |
|
17:36093638-36093639 |
17:37733645-37733646 |
48 |
HNF1B |
NM_000458.4(HNF1B):c.715_717del (p.Gly239del) |
deletion |
Pathogenic |
635737 |
|
17:36093642-36093644 |
17:37733649-37733651 |
49 |
HNF1B |
NM_000458.4(HNF1B):c.717del (p.Ala241fs) |
deletion |
Pathogenic |
635658 |
|
17:36093642-36093642 |
17:37733649-37733649 |
50 |
HNF1B |
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) |
duplication |
Pathogenic |
635659 |
|
17:36093641-36093642 |
17:37733648-37733649 |