6
(show top 50)
(show all 126)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
ABCB11 |
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) | ‎‎
SNV |
Benign, other |
195964 |
rs1521808 |
2:169783728-169783728 |
2:168927218-168927218 |
2 |
ABCB11 |
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) | ‎‎
SNV |
Pathogenic |
6589 |
rs72549401 |
2:169826641-169826641 |
2:168970131-168970131 |
3 |
ABCB11 |
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) | ‎‎
SNV |
Pathogenic |
6590 |
rs11568372 |
2:169847329-169847329 |
2:168990819-168990819 |
4 |
ABCB11 |
NM_003742.4(ABCB11):c.908+1del | ‎‎
deletion |
Pathogenic |
6591 |
rs1553469602 |
2:169847310-169847310 |
2:168990800-168990800 |
5 |
ABCB11 |
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) | ‎‎
duplication |
Pathogenic |
6592 |
rs387907317 |
2:169780330-169780331 |
2:168923820-168923821 |
6 |
ABCB11 |
NM_003742.4(ABCB11):c.150+3A>C | ‎‎
SNV |
Pathogenic |
6593 |
rs387906354 |
2:169870810-169870810 |
2:169014300-169014300 |
7 |
ABCB11 |
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) | ‎‎
duplication |
Pathogenic |
6594 |
rs752919965 |
2:169792766-169792767 |
2:168936256-168936257 |
8 |
ABCB11 |
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) | ‎‎
SNV |
Pathogenic |
6596 |
rs72549397 |
2:169788931-169788931 |
2:168932421-168932421 |
9 |
ABCB11 |
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) | ‎‎
SNV |
Pathogenic |
417884 |
rs1060499579 |
2:169801435-169801435 |
2:168944925-168944925 |
10 |
ABCB11 |
NM_003742.4(ABCB11):c.379del (p.Thr127fs) | ‎‎
deletion |
Pathogenic |
594630 |
rs1558927163 |
2:169869792-169869792 |
2:169013282-169013282 |
11 |
ABCB11 |
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) | ‎‎
SNV |
Pathogenic |
623288 |
rs1558898789 |
2:169830243-169830243 |
2:168973733-168973733 |
12 |
ABCB11 |
GRCh37/hg19 2q31.1(chr2:169824976-169830328) | ‎‎
copy number loss |
Pathogenic |
625825 |
|
2:169824976-169830328 |
|
13 |
ABCB11 |
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) | ‎‎
SNV |
Pathogenic |
288555 |
rs72549402 |
2:169828550-169828550 |
2:168972040-168972040 |
14 |
ABCB11 |
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) | ‎‎
SNV |
Pathogenic |
288726 |
rs72549395 |
2:169783827-169783827 |
2:168927317-168927317 |
15 |
ABCB11 |
NM_003742.4(ABCB11):c.2012-8T>G | ‎‎
SNV |
Pathogenic/Likely pathogenic |
284637 |
rs769910565 |
2:169825008-169825008 |
2:168968498-168968498 |
16 |
ABCB11 |
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) | ‎‎
SNV |
Likely pathogenic |
801829 |
|
2:169869914-169869914 |
2:169013404-169013404 |
17 |
ABCB11 |
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) | ‎‎
duplication |
Likely pathogenic |
804388 |
|
2:169836471-169836472 |
2:168979961-168979962 |
18 |
ABCB11 |
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
752939 |
|
2:169781299-169781299 |
2:168924789-168924789 |
19 |
ABCB11 |
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
753364 |
|
2:169828465-169828465 |
2:168971955-168971955 |
20 |
ABCB11 |
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
594929 |
rs2287617 |
2:169847323-169847323 |
2:168990813-168990813 |
21 |
ABCB11 |
NM_003742.4(ABCB11):c.3411+10G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
596230 |
rs188996270 |
2:169787165-169787165 |
2:168930655-168930655 |
22 |
ABCB11 |
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
434035 |
rs201087979 |
2:169791864-169791864 |
2:168935354-168935354 |
23 |
ABCB11 |
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
497606 |
rs200912109 |
2:169824976-169824976 |
2:168968466-168968466 |
24 |
ABCB11 |
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
500457 |
rs140138979 |
2:169833141-169833141 |
2:168976631-168976631 |
25 |
ABCB11 |
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
501908 |
rs200709879 |
2:169783760-169783760 |
2:168927250-168927250 |
26 |
ABCB11 |
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
513952 |
rs1014304470 |
2:169801160-169801160 |
2:168944650-168944650 |
27 |
ABCB11 |
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
515742 |
rs376258647 |
2:169842641-169842641 |
2:168986131-168986131 |
28 |
ABCB11 |
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
284723 |
rs183621659 |
2:169783772-169783772 |
2:168927262-168927262 |
29 |
ABCB11 |
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
197219 |
rs183406496 |
2:169870836-169870836 |
2:169014326-169014326 |
30 |
ATP8B1 |
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
7271 |
rs34719006 |
18:55373793-55373793 |
18:57706561-57706561 |
31 |
ABCB11 |
NM_003742.4(ABCB11):c.3411+9C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
284293 |
rs201287126 |
2:169787166-169787166 |
2:168930656-168930656 |
32 |
ABCB11 |
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
289538 |
rs372382608 |
2:169842773-169842773 |
2:168986263-168986263 |
33 |
ABCB11 |
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
289974 |
rs183214630 |
2:169853214-169853214 |
2:168996704-168996704 |
34 |
ABCB11 |
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
290081 |
rs188824058 |
2:169828535-169828535 |
2:168972025-168972025 |
35 |
ABCB11 |
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
291251 |
rs200087122 |
2:169814519-169814519 |
2:168958009-168958009 |
36 |
ABCB11 |
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
291290 |
rs192375476 |
2:169792743-169792743 |
2:168936233-168936233 |
37 |
ABCB11 |
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
332037 |
rs369671177 |
2:169847409-169847409 |
2:168990899-168990899 |
38 |
ABCB11 |
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
332036 |
rs369132677 |
2:169836460-169836460 |
2:168979950-168979950 |
39 |
ABCB11 |
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
332022 |
rs199940188 |
2:169791823-169791823 |
2:168935313-168935313 |
40 |
ABCB11 |
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
382469 |
rs11568361 |
2:169870004-169870004 |
2:169013494-169013494 |
41 |
ABCB11 |
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
381717 |
rs200739891 |
2:169847368-169847368 |
2:168990858-168990858 |
42 |
ABCB11 |
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
382082 |
rs201881755 |
2:169791843-169791843 |
2:168935333-168935333 |
43 |
ABCB11 |
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) | ‎‎
SNV |
Uncertain significance |
381718 |
rs770497192 |
2:169842767-169842767 |
2:168986257-168986257 |
44 |
ABCB11 |
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) | ‎‎
SNV |
Uncertain significance |
332027 |
rs372757355 |
2:169801210-169801210 |
2:168944700-168944700 |
45 |
ABCB11 |
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) | ‎‎
SNV |
Uncertain significance |
332029 |
rs539087982 |
2:169820802-169820802 |
2:168964292-168964292 |
46 |
ABCB11 |
NM_003742.4(ABCB11):c.2075+7T>A | ‎‎
SNV |
Uncertain significance |
332030 |
rs768511849 |
2:169824930-169824930 |
2:168968420-168968420 |
47 |
ABCB11 |
NM_003742.4(ABCB11):c.-78C>T | ‎‎
SNV |
Uncertain significance |
332039 |
rs746730049 |
2:169887785-169887785 |
2:169031275-169031275 |
48 |
ABCB11 |
NM_003742.4(ABCB11):c.*252T>A | ‎‎
SNV |
Uncertain significance |
332016 |
rs886055060 |
2:169779880-169779880 |
2:168923370-168923370 |
49 |
ABCB11 |
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His) | ‎‎
SNV |
Uncertain significance |
332021 |
rs886055062 |
2:169788910-169788910 |
2:168932400-168932400 |
50 |
ABCB11 |
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) | ‎‎
SNV |
Uncertain significance |
332023 |
rs886055063 |
2:169791845-169791845 |
2:168935335-168935335 |
UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:
73
(show all 12)
Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:
9
(show top 50)
(show all 15388)
# |
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 |
|