6
(show all 14)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
USP53 |
NM_019050.2(USP53):c.1012C>T (p.Arg338Ter) |
SNV |
Pathogenic |
694273 |
|
4:120188514-120188514 |
4:119267359-119267359 |
2 |
ABCB11 |
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) |
SNV |
Pathogenic |
6590 |
rs11568372 |
2:169847329-169847329 |
2:168990819-168990819 |
3 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) |
SNV |
Conflicting interpretations of pathogenicity |
327475 |
rs199716374 |
18:55328476-55328476 |
18:57661244-57661244 |
4 |
ATP8B1 |
NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=) |
SNV |
Uncertain significance |
327469 |
rs886054009 |
18:55317680-55317680 |
18:57650448-57650448 |
5 |
ABCB11 |
NM_003742.4(ABCB11):c.*193G>C |
SNV |
Uncertain significance |
332019 |
rs886055061 |
2:169779939-169779939 |
2:168923429-168923429 |
6 |
ABCB11 |
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) |
SNV |
Uncertain significance |
332024 |
rs200857579 |
2:169791916-169791916 |
2:168935406-168935406 |
7 |
ABCB11 |
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) |
SNV |
Uncertain significance |
332032 |
rs886055066 |
2:169826665-169826665 |
2:168970155-168970155 |
8 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=) |
SNV |
Uncertain significance |
327482 |
rs370484798 |
18:55336595-55336595 |
18:57669363-57669363 |
9 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2098-30_2098-28dup |
duplication |
Likely benign |
327477 |
rs34422185 |
18:55335786-55335787 |
18:57668554-57668555 |
10 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2098-30_2098-26dup |
duplication |
Likely benign |
327479 |
rs34422185 |
18:55335786-55335787 |
18:57668554-57668555 |
11 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2098-30_2098-24dup |
duplication |
Likely benign |
327481 |
rs34422185 |
18:55335786-55335787 |
18:57668554-57668555 |
12 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2098-30_2098-27dup |
duplication |
Benign |
327478 |
rs34422185 |
18:55335786-55335787 |
18:57668554-57668555 |
13 |
ATP8B1 |
NM_005603.6(ATP8B1):c.*2015del |
deletion |
Benign |
327438 |
rs35833803 |
18:55313705-55313705 |
18:57646473-57646473 |
14 |
ATP8B1 |
NM_005603.6(ATP8B1):c.2098-30_2098-25dup |
duplication |
Benign |
327480 |
rs34422185 |
18:55335786-55335787 |
18:57668554-57668555 |
Cosmic variations for Progressive Familial Intrahepatic Cholestasis:
9
(show top 50)
(show all 15626)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM97724722 |
ZXDB |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1308C>A |
p.D436E |
23:57593356-57593356 |
12 |
2 |
COSM94436083 |
ZSWIM1 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1399A>C |
p.S467R |
20:45883991-45883991 |
12 |
3 |
COSM94063771 |
ZSCAN20 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2314G>T |
p.G772W |
1:33494658-33494658 |
12 |
4 |
COSM88264637 |
ZRSR2 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.304G>T |
p.E102* |
23:15803788-15803788 |
12 |
5 |
COSM131494492 |
ZNRF3 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1159A>G |
p.M387V |
22:29049340-29049340 |
12 |
6 |
COSM102131817 |
ZNFX1 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2580G>A |
p.L860= |
20:49257501-49257501 |
12 |
7 |
COSM113317148 |
ZNF853 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1610G>T |
p.G537V |
7:6622601-6622601 |
12 |
8 |
COSM128686611 |
ZNF829 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1072T>A |
p.F358I |
19:36891962-36891962 |
12 |
9 |
COSM123949383 |
ZNF827 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1741C>T |
p.L581= |
4:145885684-145885684 |
12 |
10 |
COSM86004822 |
ZNF653 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1553A>C |
p.H518P |
19:11485673-11485673 |
12 |
11 |
COSM139729931 |
ZNF615 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.141G>A |
p.V47= |
19:52002156-52002156 |
12 |
12 |
COSM91868668 |
ZNF536 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.3900G>T |
p.K1300N |
19:30557161-30557161 |
12 |
13 |
COSM91880764 |
ZNF536 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2171-78T>G |
p.? |
19:30534769-30534769 |
12 |
14 |
COSM94799980 |
ZNF521 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.3658+205G>A |
p.? |
18:25194955-25194955 |
12 |
15 |
COSM90582798 |
ZNF518B |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1624G>T |
p.E542* |
4:10444705-10444705 |
12 |
16 |
COSM87577038 |
ZNF462 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.6715G>T |
p.V2239L |
9:106974156-106974156 |
12 |
17 |
COSM151538615 |
ZNF385B |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.253+23785G>T |
p.? |
2:179745718-179745718 |
12 |
18 |
COSM111609487 |
ZNF276 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1444C>G |
p.L482V |
16:89734008-89734008 |
12 |
19 |
COSM92353291 |
ZNF26 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1010C>T |
p.T337I |
12:133010889-133010889 |
12 |
20 |
COSM95253159 |
ZNF217 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*194A>T |
p.? |
20:53569094-53569094 |
12 |
21 |
COSM94505616 |
ZMYND12 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.425-1G>T |
p.? |
1:42440026-42440026 |
12 |
22 |
COSM89943752 |
ZMYM4 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.86-8201G>T |
p.? |
1:35350724-35350724 |
12 |
23 |
COSM101398456 |
ZIC2 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.-18C>T |
p.? |
13:99982047-99982047 |
12 |
24 |
COSM92703312 |
ZGPAT |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*197C>A |
p.? |
20:63736116-63736116 |
12 |
25 |
COSM92032561 |
ZFYVE26 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.663C>A |
p.A221= |
14:67807621-67807621 |
12 |
26 |
COSM84360265 |
ZFR |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1979+14C>A |
p.? |
5:32395145-32395145 |
12 |
27 |
COSM84362097 |
ZFR |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2882C>T |
p.P961L |
5:32364229-32364229 |
12 |
28 |
COSM85178149 |
ZFP36L2 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.910T>G |
p.S304A |
2:43224894-43224894 |
12 |
29 |
COSM87884183 |
ZFP28 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1865G>A |
p.C622Y |
19:56554650-56554650 |
12 |
30 |
COSM127392053 |
ZFHX4 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.10601C>G |
p.S3534C |
8:76864315-76864315 |
12 |
31 |
COSM149268658 |
ZFHX3 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.9997C>T |
p.Q3333* |
16:72788279-72788279 |
12 |
32 |
COSM149328017 |
ZFHX3 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.10852C>A |
p.P3618T |
16:72787424-72787424 |
12 |
33 |
COSM149281099 |
ZFHX3 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.8342A>G |
p.Q2781R |
16:72794340-72794340 |
12 |
34 |
COSM144309108 |
ZEB2 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1141A>G |
p.M381V |
2:144400046-144400046 |
12 |
35 |
COSM87420403 |
ZCCHC14 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.71A>T |
p.Q24L |
16:87491757-87491757 |
12 |
36 |
COSM98996636 |
ZC3H7A |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2866A>G |
p.N956D |
16:11751367-11751367 |
12 |
37 |
COSM92255466 |
ZC3H15 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*55T>G |
p.? |
2:186508788-186508788 |
12 |
38 |
COSM85044193 |
ZC3H14 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*10873G>A |
p.? |
14:88622624-88622624 |
12 |
39 |
COSM106743522 |
ZBTB7B |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*635G>C |
p.? |
1:155017320-155017320 |
12 |
40 |
COSM93795261 |
ZBTB41 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1700G>A |
p.R567K |
1:197178489-197178489 |
12 |
41 |
COSM103188148 |
ZBTB40 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.3339C>A |
p.F1113L |
1:22524258-22524258 |
12 |
42 |
COSM91488114 |
ZBTB4 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.454G>T |
p.G152C |
17:7466348-7466348 |
12 |
43 |
COSM95291738 |
ZBTB37 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.620G>C |
p.S207T |
1:173870845-173870845 |
12 |
44 |
COSM107993551 |
ZBTB10 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2383A>G |
p.I795V |
8:80519295-80519295 |
12 |
45 |
COSM107993152 |
ZBTB10 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2208A>G |
p.T736= |
8:80518852-80518852 |
12 |
46 |
COSM86073785 |
ZBED4 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2225A>C |
p.E742A |
22:49885887-49885887 |
12 |
47 |
COSM142300159 |
YTHDF3 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.1580A>G |
p.N527S |
8:63187582-63187582 |
12 |
48 |
COSM90849676 |
YOD1 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.*157T>C |
p.? |
1:207048863-207048863 |
12 |
49 |
COSM90620829 |
YME1L1 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.2006A>G |
p.H669R |
10:27116230-27116230 |
12 |
50 |
COSM86902201 |
YEATS2 |
liver,NS,carcinoma,hepatocellular carcinoma
|
c.501C>T |
p.N167= |
3:183722100-183722100 |
12 |
|