Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.57694553A= | CA2306111617 | ATP8B1 | c.1029+29T= (n.1029+29T=) c.862+29T= c.915+29T= (n.915+29T=) c.309+29T= (n.309+29T=) n.32-1392A= c.879+29T= (n.879+29T=) | |
18 | g.57694553A>G | CA8974673 | ATP8B1 | c.1029+29T>C (n.1029+29T>C) c.862+29T>C c.915+29T>C (n.915+29T>C) c.309+29T>C (n.309+29T>C) n.32-1392A>G c.879+29T>C (n.879+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57694554G>A | CA2576512560 | ATP8B1 | c.1029+28C>T (n.1029+28C>T) c.862+28C>T c.915+28C>T (n.915+28C>T) c.309+28C>T (n.309+28C>T) n.32-1391G>A c.879+28C>T (n.879+28C>T) | |
18 | g.57694554G>C | CA8974674 | ATP8B1 | c.1029+28C>G (n.1029+28C>G) c.862+28C>G c.915+28C>G (n.915+28C>G) c.309+28C>G (n.309+28C>G) n.32-1391G>C c.879+28C>G (n.879+28C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694554G= | CA2306111618 | ATP8B1 | c.1029+28C= (n.1029+28C=) c.862+28C= c.915+28C= (n.915+28C=) c.309+28C= (n.309+28C=) n.32-1391G= c.879+28C= (n.879+28C=) | |
18 | g.57694554G>T | CA2641954709 | ATP8B1 | c.1029+28C>A (n.1029+28C>A) c.862+28C>A c.915+28C>A (n.915+28C>A) c.309+28C>A (n.309+28C>A) n.32-1391G>T c.879+28C>A (n.879+28C>A) | gnomAD v4 |
18 | g.57694556G>C | CA630042655 | ATP8B1 | c.1029+26C>G (n.1029+26C>G) c.862+26C>G c.915+26C>G (n.915+26C>G) c.309+26C>G (n.309+26C>G) n.32-1389G>C c.879+26C>G (n.879+26C>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694556G= | CA2306111619 | ATP8B1 | c.1029+26C= (n.1029+26C=) c.862+26C= c.915+26C= (n.915+26C=) c.309+26C= (n.309+26C=) n.32-1389G= c.879+26C= (n.879+26C=) | |
18 | g.57694556G>T | CA2576512561 | ATP8B1 | c.1029+26C>A (n.1029+26C>A) c.862+26C>A c.915+26C>A (n.915+26C>A) c.309+26C>A (n.309+26C>A) n.32-1389G>T c.879+26C>A (n.879+26C>A) | gnomAD v4 |
18 | g.57694557A= | CA2306111620 | ATP8B1 | c.1029+25T= (n.1029+25T=) c.862+25T= c.915+25T= (n.915+25T=) c.309+25T= (n.309+25T=) n.32-1388A= c.879+25T= (n.879+25T=) | |
18 | g.57694557A>G | CA8974675 | ATP8B1 | c.1029+25T>C (n.1029+25T>C) c.862+25T>C c.915+25T>C (n.915+25T>C) c.309+25T>C (n.309+25T>C) n.32-1388A>G c.879+25T>C (n.879+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694558T>C | CA630042663 | ATP8B1 | c.1029+24A>G (n.1029+24A>G) c.862+24A>G c.915+24A>G (n.915+24A>G) c.309+24A>G (n.309+24A>G) n.32-1387T>C c.879+24A>G (n.879+24A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694558T= | CA2306111621 | ATP8B1 | c.1029+24A= (n.1029+24A=) c.862+24A= c.915+24A= (n.915+24A=) c.309+24A= (n.309+24A=) n.32-1387T= c.879+24A= (n.879+24A=) | |
18 | g.57694559C= | CA2306111622 | ATP8B1 | c.1029+23G= (n.1029+23G=) c.862+23G= c.915+23G= (n.915+23G=) c.309+23G= (n.309+23G=) n.32-1386C= c.879+23G= (n.879+23G=) | |
18 | g.57694559C>G | CA630042668 | ATP8B1 | c.1029+23G>C (n.1029+23G>C) c.862+23G>C c.915+23G>C (n.915+23G>C) c.309+23G>C (n.309+23G>C) n.32-1386C>G c.879+23G>C (n.879+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694559_57694560insGTA | CA2576512562 | ATP8B1 | c.1029+22_1029+23insTAC (n.1029+22_1029+23insTAC) c.862+22_862+23insTAC c.915+22_915+23insTAC (n.915+22_915+23insTAC) c.309+22_309+23insTAC (n.309+22_309+23insTAC) n.32-1386_32-1385insGTA c.879+22_879+23insTAC (n.879+22_879+23insTAC) | |
18 | g.57694560T>A | CA2576512563 | ATP8B1 | c.1029+22A>T (n.1029+22A>T) c.862+22A>T c.915+22A>T (n.915+22A>T) c.309+22A>T (n.309+22A>T) n.32-1385T>A c.879+22A>T (n.879+22A>T) | |
18 | g.57694560T>C | CA2641954710 | ATP8B1 | c.1029+22A>G (n.1029+22A>G) c.862+22A>G c.915+22A>G (n.915+22A>G) c.309+22A>G (n.309+22A>G) n.32-1385T>C c.879+22A>G (n.879+22A>G) | gnomAD v4 |
18 | g.57694561A= | CA2306111623 | ATP8B1 | c.1029+21T= (n.1029+21T=) c.862+21T= c.915+21T= (n.915+21T=) c.309+21T= (n.309+21T=) n.32-1384A= c.879+21T= (n.879+21T=) | |
18 | g.57694561A>G | CA8974676 | ATP8B1 | c.1029+21T>C (n.1029+21T>C) c.862+21T>C c.915+21T>C (n.915+21T>C) c.309+21T>C (n.309+21T>C) n.32-1384A>G c.879+21T>C (n.879+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694563T>G | CA8974677 | ATP8B1 | c.1029+19A>C (n.1029+19A>C) c.862+19A>C c.915+19A>C (n.915+19A>C) c.309+19A>C (n.309+19A>C) n.32-1382T>G c.879+19A>C (n.879+19A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694563T= | CA2306111624 | ATP8B1 | c.1029+19A= (n.1029+19A=) c.862+19A= c.915+19A= (n.915+19A=) c.309+19A= (n.309+19A=) n.32-1382T= c.879+19A= (n.879+19A=) | |
18 | g.57694564G>T | CA2641954711 | ATP8B1 | c.1029+18C>A (n.1029+18C>A) c.862+18C>A c.915+18C>A (n.915+18C>A) c.309+18C>A (n.309+18C>A) n.32-1381G>T c.879+18C>A (n.879+18C>A) | gnomAD v4 |
18 | g.57694566G>T | CA2641954712 | ATP8B1 | c.1029+16C>A (n.1029+16C>A) c.862+16C>A c.915+16C>A (n.915+16C>A) c.309+16C>A (n.309+16C>A) n.32-1379G>T c.879+16C>A (n.879+16C>A) | gnomAD v4 |
18 | g.57694567A>T | CA2576512564 | ATP8B1 | c.1029+15T>A (n.1029+15T>A) c.862+15T>A c.915+15T>A (n.915+15T>A) c.309+15T>A (n.309+15T>A) n.32-1378A>T c.879+15T>A (n.879+15T>A) | |
18 | g.57694568T>C | CA630042681 | ATP8B1 | c.1029+14A>G (n.1029+14A>G) c.862+14A>G c.915+14A>G (n.915+14A>G) c.309+14A>G (n.309+14A>G) n.32-1377T>C c.879+14A>G (n.879+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694568T= | CA2306111625 | ATP8B1 | c.1029+14A= (n.1029+14A=) c.862+14A= c.915+14A= (n.915+14A=) c.309+14A= (n.309+14A=) n.32-1377T= c.879+14A= (n.879+14A=) | |
18 | g.57694569G>A | CA2641954713 | ATP8B1 | c.1029+13C>T (n.1029+13C>T) c.862+13C>T c.915+13C>T (n.915+13C>T) c.309+13C>T (n.309+13C>T) n.32-1376G>A c.879+13C>T (n.879+13C>T) | gnomAD v4 |
18 | g.57694569G>T | CA2641954714 | ATP8B1 | c.1029+13C>A (n.1029+13C>A) c.862+13C>A c.915+13C>A (n.915+13C>A) c.309+13C>A (n.309+13C>A) n.32-1376G>T c.879+13C>A (n.879+13C>A) | gnomAD v4 |
18 | g.57694574del | CA2641954715 | ATP8B1 | c.1029+12del (n.1029+12del) c.862+12del c.915+12del (n.915+12del) c.309+12del (n.309+12del) n.32-1371del c.879+12del (n.879+12del) | gnomAD v4 |
18 | g.57694573_57694574del | CA2576512565 | ATP8B1 | c.1029+11_1029+12del (n.1029+11_1029+12del) c.862+11_862+12del c.915+11_915+12del (n.915+11_915+12del) c.309+11_309+12del (n.309+11_309+12del) n.32-1372_32-1371del c.879+11_879+12del (n.879+11_879+12del) | |
18 | g.57694571_57694575delinsAAAAT | CA2306111626 | ATP8B1 | c.1029+7_1029+11delinsATTTT (n.1029+7_1029+11delinsATTTT) c.862+7_862+11delinsATTTT c.915+7_915+11delinsATTTT (n.915+7_915+11delinsATTTT) c.309+7_309+11delinsATTTT (n.309+7_309+11delinsATTTT) n.32-1374_32-1370delinsAAAAT c.879+7_879+11delinsATTTT (n.879+7_879+11delinsATTTT) | |
18 | g.57694577_57694580del | CA2306111627 | ATP8B1 | c.1029+7_1029+10del (n.1029+7_1029+10del) c.862+7_862+10del c.915+7_915+10del (n.915+7_915+10del) c.309+7_309+10del (n.309+7_309+10del) n.32-1368_32-1365del c.879+7_879+10del (n.879+7_879+10del) | dbSNP gnomAD v4 |
18 | g.57694573A= | CA2306111628 | ATP8B1 | c.1029+9T= (n.1029+9T=) c.862+9T= c.915+9T= (n.915+9T=) c.309+9T= (n.309+9T=) n.32-1372A= c.879+9T= (n.879+9T=) | |
18 | g.57694573A>T | CA780817356 | ATP8B1 | c.1029+9T>A (n.1029+9T>A) c.862+9T>A c.915+9T>A (n.915+9T>A) c.309+9T>A (n.309+9T>A) n.32-1372A>T c.879+9T>A (n.879+9T>A) | dbSNP |
18 | g.57694574A>C | CA2641954716 | ATP8B1 | c.1029+8T>G (n.1029+8T>G) c.862+8T>G c.915+8T>G (n.915+8T>G) c.309+8T>G (n.309+8T>G) n.32-1371A>C c.879+8T>G (n.879+8T>G) | gnomAD v4 |
18 | g.57694575T>C | CA630042687 | ATP8B1 | c.1029+7A>G (n.1029+7A>G) c.862+7A>G c.915+7A>G (n.915+7A>G) c.309+7A>G (n.309+7A>G) n.32-1370T>C c.879+7A>G (n.879+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694575T= | CA2306111629 | ATP8B1 | c.1029+7A= (n.1029+7A=) c.862+7A= c.915+7A= (n.915+7A=) c.309+7A= (n.309+7A=) n.32-1370T= c.879+7A= (n.879+7A=) | |
18 | g.57694576A>C | CA2576512566 | ATP8B1 | c.1029+6T>G (n.1029+6T>G) c.862+6T>G c.915+6T>G (n.915+6T>G) c.309+6T>G (n.309+6T>G) n.32-1369A>C c.879+6T>G (n.879+6T>G) | ClinVar gnomAD v4 |
18 | g.57694577A= | CA2306111630 | ATP8B1 | c.1029+5T= (n.1029+5T=) c.862+5T= c.915+5T= (n.915+5T=) c.309+5T= (n.309+5T=) n.32-1368A= c.879+5T= (n.879+5T=) | |
18 | g.57694577A>C | CA2576512567 | ATP8B1 | c.1029+5T>G (n.1029+5T>G) c.862+5T>G c.915+5T>G (n.915+5T>G) c.309+5T>G (n.309+5T>G) n.32-1368A>C c.879+5T>G (n.879+5T>G) | ClinVar gnomAD v4 |
18 | g.57694577A>G | CA8974678 | ATP8B1 | c.1029+5T>C (n.1029+5T>C) c.862+5T>C c.915+5T>C (n.915+5T>C) c.309+5T>C (n.309+5T>C) n.32-1368A>G c.879+5T>C (n.879+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694578A>C | CA2576512568 | ATP8B1 | c.1029+4T>G (n.1029+4T>G) c.862+4T>G c.915+4T>G (n.915+4T>G) c.309+4T>G (n.309+4T>G) n.32-1367A>C c.879+4T>G (n.879+4T>G) | ClinVar gnomAD v4 |
18 | g.57694580A>C | CA402540838 | ATP8B1 | c.1029+2T>G (n.1029+2T>G) c.862+2T>G c.915+2T>G (n.915+2T>G) c.309+2T>G (n.309+2T>G) n.32-1365A>C c.879+2T>G (n.879+2T>G) | |
18 | g.57694580A>G | CA402540841 | ATP8B1 | c.1029+2T>C (n.1029+2T>C) c.862+2T>C c.915+2T>C (n.915+2T>C) c.309+2T>C (n.309+2T>C) n.32-1365A>G c.879+2T>C (n.879+2T>C) | |
18 | g.57694580A>T | CA402540853 | ATP8B1 | c.1029+2T>A (n.1029+2T>A) c.862+2T>A c.915+2T>A (n.915+2T>A) c.309+2T>A (n.309+2T>A) n.32-1365A>T c.879+2T>A (n.879+2T>A) | |
18 | g.57694581C>A | CA402540857 | ATP8B1 | c.1029+1G>T (n.1029+1G>T) c.862+1G>T c.915+1G>T (n.915+1G>T) c.309+1G>T (n.309+1G>T) n.32-1364C>A c.879+1G>T (n.879+1G>T) | |
18 | g.57694581C>G | CA402540861 | ATP8B1 | c.1029+1G>C (n.1029+1G>C) c.862+1G>C c.915+1G>C (n.915+1G>C) c.309+1G>C (n.309+1G>C) n.32-1364C>G c.879+1G>C (n.879+1G>C) | gnomAD v4 |
18 | g.57694581C>T | CA402540856 | ATP8B1 | c.1029+1G>A (n.1029+1G>A) c.862+1G>A c.915+1G>A (n.915+1G>A) c.309+1G>A (n.309+1G>A) n.32-1364C>T c.879+1G>A (n.879+1G>A) | ClinVar gnomAD v4 COSMIC |
18 | g.57694582C>A | CA504010241 | ATP8B1 | c.1029G>T (p.Thr343=) c.862G>T c.915G>T (p.Thr305=) c.309G>T (p.Thr103=) n.32-1363C>A c.879G>T (p.Thr293=) | |
18 | g.57694582C= | CA2306111631 | ATP8B1 | c.1029G= (p.Thr343=) c.862G= c.915G= (p.Thr305=) c.309G= (p.Thr103=) n.32-1363C= c.879G= (p.Thr293=) | |
18 | g.57694582C>G | CA504010242 | ATP8B1 | c.1029G>C (p.Thr343=) c.862G>C c.915G>C (p.Thr305=) c.309G>C (p.Thr103=) n.32-1363C>G c.879G>C (p.Thr293=) | gnomAD v4 |
18 | g.57694582C>T | CA300861361 | ATP8B1 | c.1029G>A (p.Thr343=) c.862G>A c.915G>A (p.Thr305=) c.309G>A (p.Thr103=) n.32-1363C>T c.879G>A (p.Thr293=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.57694583G>A | CA8974679 | ATP8B1 | c.1028C>T (p.Thr343Met) c.861C>T c.914C>T (p.Thr305Met) c.308C>T (p.Thr103Met) n.32-1362G>A c.878C>T (p.Thr293Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694583G>C | CA402540868 | ATP8B1 | c.1028C>G (p.Thr343Arg) c.861C>G c.914C>G (p.Thr305Arg) c.308C>G (p.Thr103Arg) n.32-1362G>C c.878C>G (p.Thr293Arg) | |
18 | g.57694583G= | CA2306111632 | ATP8B1 | c.1028C= (p.Thr343=) c.861C= c.914C= (p.Thr305=) c.308C= (p.Thr103=) n.32-1362G= c.878C= (p.Thr293=) | |
18 | g.57694583G>T | CA402540867 | ATP8B1 | c.1028C>A (p.Thr343Lys) c.861C>A c.914C>A (p.Thr305Lys) c.308C>A (p.Thr103Lys) n.32-1362G>T c.878C>A (p.Thr293Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694584T>A | CA402540872 | ATP8B1 | c.1027A>T (p.Thr343Ser) c.860A>T c.913A>T (p.Thr305Ser) c.307A>T (p.Thr103Ser) n.32-1361T>A c.877A>T (p.Thr293Ser) | |
18 | g.57694584T>C | CA402540878 | ATP8B1 | c.1027A>G (p.Thr343Ala) c.860A>G c.913A>G (p.Thr305Ala) c.307A>G (p.Thr103Ala) n.32-1361T>C c.877A>G (p.Thr293Ala) | |
18 | g.57694584T>G | CA402540880 | ATP8B1 | c.1027A>C (p.Thr343Pro) c.860A>C c.913A>C (p.Thr305Pro) c.307A>C (p.Thr103Pro) n.32-1361T>G c.877A>C (p.Thr293Pro) | |
18 | g.57694585G>A | CA300861362 | ATP8B1 | c.1026C>T (p.Tyr342=) c.859C>T c.912C>T (p.Tyr304=) c.306C>T (p.Tyr102=) n.32-1360G>A c.876C>T (p.Tyr292=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694585G>C | CA402540884 | ATP8B1 | c.1026C>G (p.Tyr342Ter) c.859C>G c.912C>G (p.Tyr304Ter) c.306C>G (p.Tyr102Ter) n.32-1360G>C c.876C>G (p.Tyr292Ter) | |
18 | g.57694585G= | CA2306111633 | ATP8B1 | c.1026C= (p.Tyr342=) c.859C= c.912C= (p.Tyr304=) c.306C= (p.Tyr102=) n.32-1360G= c.876C= (p.Tyr292=) | |
18 | g.57694585G>T | CA402540893 | ATP8B1 | c.1026C>A (p.Tyr342Ter) c.859C>A c.912C>A (p.Tyr304Ter) c.306C>A (p.Tyr102Ter) n.32-1360G>T c.876C>A (p.Tyr292Ter) | gnomAD v4 |
18 | g.57694586T>A | CA402540897 | ATP8B1 | c.1025A>T (p.Tyr342Phe) c.858A>T c.911A>T (p.Tyr304Phe) c.305A>T (p.Tyr102Phe) n.32-1359T>A c.875A>T (p.Tyr292Phe) | |
18 | g.57694586T>C | CA402540899 | ATP8B1 | c.1025A>G (p.Tyr342Cys) c.858A>G c.911A>G (p.Tyr304Cys) c.305A>G (p.Tyr102Cys) n.32-1359T>C c.875A>G (p.Tyr292Cys) | |
18 | g.57694586T>G | CA402540901 | ATP8B1 | c.1025A>C (p.Tyr342Ser) c.858A>C c.911A>C (p.Tyr304Ser) c.305A>C (p.Tyr102Ser) n.32-1359T>G c.875A>C (p.Tyr292Ser) | |
18 | g.57694587A= | CA2306111634 | ATP8B1 | c.1024T= (p.Tyr342=) c.857T= c.910T= (p.Tyr304=) c.304T= (p.Tyr102=) n.32-1358A= c.874T= (p.Tyr292=) | |
18 | g.57694587A>C | CA402540908 | ATP8B1 | c.1024T>G (p.Tyr342Asp) c.857T>G c.910T>G (p.Tyr304Asp) c.304T>G (p.Tyr102Asp) n.32-1358A>C c.874T>G (p.Tyr292Asp) | dbSNP |
18 | g.57694587A>G | CA402540912 | ATP8B1 | c.1024T>C (p.Tyr342His) c.857T>C c.910T>C (p.Tyr304His) c.304T>C (p.Tyr102His) n.32-1358A>G c.874T>C (p.Tyr292His) | |
18 | g.57694587A>T | CA402540917 | ATP8B1 | c.1024T>A (p.Tyr342Asn) c.857T>A c.910T>A (p.Tyr304Asn) c.304T>A (p.Tyr102Asn) n.32-1358A>T c.874T>A (p.Tyr292Asn) | |
18 | g.57694588A>C | CA504010244 | ATP8B1 | c.1023T>G (p.Val341=) c.856T>G c.909T>G (p.Val303=) c.303T>G (p.Val101=) n.32-1357A>C c.873T>G (p.Val291=) | |
18 | g.57694588A>G | CA504010245 | ATP8B1 | c.1023T>C (p.Val341=) c.856T>C c.909T>C (p.Val303=) c.303T>C (p.Val101=) n.32-1357A>G c.873T>C (p.Val291=) | |
18 | g.57694588A>T | CA504010246 | ATP8B1 | c.1023T>A (p.Val341=) c.856T>A c.909T>A (p.Val303=) c.303T>A (p.Val101=) n.32-1357A>T c.873T>A (p.Val291=) | |
18 | g.57694589A>C | CA402540924 | ATP8B1 | c.1022T>G (p.Val341Gly) c.855T>G c.908T>G (p.Val303Gly) c.302T>G (p.Val101Gly) n.32-1356A>C c.872T>G (p.Val291Gly) | |
18 | g.57694589A>G | CA402540922 | ATP8B1 | c.1022T>C (p.Val341Ala) c.855T>C c.908T>C (p.Val303Ala) c.302T>C (p.Val101Ala) n.32-1356A>G c.872T>C (p.Val291Ala) | |
18 | g.57694589A>T | CA402540920 | ATP8B1 | c.1022T>A (p.Val341Asp) c.855T>A c.908T>A (p.Val303Asp) c.302T>A (p.Val101Asp) n.32-1356A>T c.872T>A (p.Val291Asp) | |
18 | g.57694590C>A | CA402540928 | ATP8B1 | c.1021G>T (p.Val341Phe) c.854G>T c.907G>T (p.Val303Phe) c.301G>T (p.Val101Phe) n.32-1355C>A c.871G>T (p.Val291Phe) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694590C= | CA2306111635 | ATP8B1 | c.1021G= (p.Val341=) c.854G= c.907G= (p.Val303=) c.301G= (p.Val101=) n.32-1355C= c.871G= (p.Val291=) | |
18 | g.57694590C>G | CA402540930 | ATP8B1 | c.1021G>C (p.Val341Leu) c.854G>C c.907G>C (p.Val303Leu) c.301G>C (p.Val101Leu) n.32-1355C>G c.871G>C (p.Val291Leu) | |
18 | g.57694590C>T | CA402540932 | ATP8B1 | c.1021G>A (p.Val341Ile) c.854G>A c.907G>A (p.Val303Ile) c.301G>A (p.Val101Ile) n.32-1355C>T c.871G>A (p.Val291Ile) | COSMIC |
18 | g.57694591C>A | CA402540934 | ATP8B1 | c.1020G>T (p.Met340Ile) c.853G>T c.906G>T (p.Met302Ile) c.300G>T (p.Met100Ile) n.32-1354C>A c.870G>T (p.Met290Ile) | |
18 | g.57694591C>G | CA402540936 | ATP8B1 | c.1020G>C (p.Met340Ile) c.853G>C c.906G>C (p.Met302Ile) c.300G>C (p.Met100Ile) n.32-1354C>G c.870G>C (p.Met290Ile) | |
18 | g.57694591C>T | CA402540938 | ATP8B1 | c.1020G>A (p.Met340Ile) c.853G>A c.906G>A (p.Met302Ile) c.300G>A (p.Met100Ile) n.32-1354C>T c.870G>A (p.Met290Ile) | |
18 | g.57694592A= | CA2306111636 | ATP8B1 | c.1019T= (p.Met340=) c.852T= c.905T= (p.Met302=) c.299T= (p.Met100=) n.32-1353A= c.869T= (p.Met290=) | |
18 | g.57694592A>C | CA402540939 | ATP8B1 | c.1019T>G (p.Met340Arg) c.852T>G c.905T>G (p.Met302Arg) c.299T>G (p.Met100Arg) n.32-1353A>C c.869T>G (p.Met290Arg) | gnomAD v4 |
18 | g.57694592A>G | CA402540940 | ATP8B1 | c.1019T>C (p.Met340Thr) c.852T>C c.905T>C (p.Met302Thr) c.299T>C (p.Met100Thr) n.32-1353A>G c.869T>C (p.Met290Thr) | dbSNP gnomAD v4 |
18 | g.57694592A>T | CA402540942 | ATP8B1 | c.1019T>A (p.Met340Lys) c.852T>A c.905T>A (p.Met302Lys) c.299T>A (p.Met100Lys) n.32-1353A>T c.869T>A (p.Met290Lys) | |
18 | g.57694593T>A | CA402540944 | ATP8B1 | c.1018A>T (p.Met340Leu) c.851A>T c.904A>T (p.Met302Leu) c.298A>T (p.Met100Leu) n.32-1352T>A c.868A>T (p.Met290Leu) | |
18 | g.57694593T>C | CA402540948 | ATP8B1 | c.1018A>G (p.Met340Val) c.851A>G c.904A>G (p.Met302Val) c.298A>G (p.Met100Val) n.32-1352T>C c.868A>G (p.Met290Val) | |
18 | g.57694593T>G | CA402540950 | ATP8B1 | c.1018A>C (p.Met340Leu) c.851A>C c.904A>C (p.Met302Leu) c.298A>C (p.Met100Leu) n.32-1352T>G c.868A>C (p.Met290Leu) | |
18 | g.57694594G>A | CA504010247 | ATP8B1 | c.1017C>T (p.Tyr339=) c.850C>T c.903C>T (p.Tyr301=) c.297C>T (p.Tyr99=) n.32-1351G>A c.867C>T (p.Tyr289=) | |
18 | g.57694594G>C | CA402540956 | ATP8B1 | c.1017C>G (p.Tyr339Ter) c.850C>G c.903C>G (p.Tyr301Ter) c.297C>G (p.Tyr99Ter) n.32-1351G>C c.867C>G (p.Tyr289Ter) | |
18 | g.57694594G>T | CA402540953 | ATP8B1 | c.1017C>A (p.Tyr339Ter) c.850C>A c.903C>A (p.Tyr301Ter) c.297C>A (p.Tyr99Ter) n.32-1351G>T c.867C>A (p.Tyr289Ter) | gnomAD v4 |
18 | g.57694595T>A | CA402540958 | ATP8B1 | c.1016A>T (p.Tyr339Phe) c.849A>T c.902A>T (p.Tyr301Phe) c.296A>T (p.Tyr99Phe) n.32-1350T>A c.866A>T (p.Tyr289Phe) | |
18 | g.57694595T>C | CA8974680 | ATP8B1 | c.1016A>G (p.Tyr339Cys) c.849A>G c.902A>G (p.Tyr301Cys) c.296A>G (p.Tyr99Cys) n.32-1350T>C c.866A>G (p.Tyr289Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57694595T>G | CA402540962 | ATP8B1 | c.1016A>C (p.Tyr339Ser) c.849A>C c.902A>C (p.Tyr301Ser) c.296A>C (p.Tyr99Ser) n.32-1350T>G c.866A>C (p.Tyr289Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694595T= | CA2306111637 | ATP8B1 | c.1016A= (p.Tyr339=) c.849A= c.902A= (p.Tyr301=) c.296A= (p.Tyr99=) n.32-1350T= c.866A= (p.Tyr289=) | |
18 | g.57694596A>C | CA402540964 | ATP8B1 | c.1015T>G (p.Tyr339Asp) c.848T>G c.901T>G (p.Tyr301Asp) c.295T>G (p.Tyr99Asp) n.32-1349A>C c.865T>G (p.Tyr289Asp) | |
18 | g.57694596A>G | CA402540967 | ATP8B1 | c.1015T>C (p.Tyr339His) c.848T>C c.901T>C (p.Tyr301His) c.295T>C (p.Tyr99His) n.32-1349A>G c.865T>C (p.Tyr289His) | |
18 | g.57694596A>T | CA402540970 | ATP8B1 | c.1015T>A (p.Tyr339Asn) c.848T>A c.901T>A (p.Tyr301Asn) c.295T>A (p.Tyr99Asn) n.32-1349A>T c.865T>A (p.Tyr289Asn) | |
18 | g.57694597G>A | CA8974681 | ATP8B1 | c.1014C>T (p.Asn338=) c.847C>T c.900C>T (p.Asn300=) c.294C>T (p.Asn98=) n.32-1348G>A c.864C>T (p.Asn288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694597G>C | CA402540975 | ATP8B1 | c.1014C>G (p.Asn338Lys) c.847C>G c.900C>G (p.Asn300Lys) c.294C>G (p.Asn98Lys) n.32-1348G>C c.864C>G (p.Asn288Lys) | |
18 | g.57694597G= | CA2306111638 | ATP8B1 | c.1014C= (p.Asn338=) c.847C= c.900C= (p.Asn300=) c.294C= (p.Asn98=) n.32-1348G= c.864C= (p.Asn288=) | |
18 | g.57694597G>T | CA402540976 | ATP8B1 | c.1014C>A (p.Asn338Lys) c.847C>A c.900C>A (p.Asn300Lys) c.294C>A (p.Asn98Lys) n.32-1348G>T c.864C>A (p.Asn288Lys) | gnomAD v4 |
18 | g.57694598T>A | CA402540979 | ATP8B1 | c.1013A>T (p.Asn338Ile) c.846A>T c.899A>T (p.Asn300Ile) c.293A>T (p.Asn98Ile) n.32-1347T>A c.863A>T (p.Asn288Ile) | |
18 | g.57694598T>C | CA402540986 | ATP8B1 | c.1013A>G (p.Asn338Ser) c.846A>G c.899A>G (p.Asn300Ser) c.293A>G (p.Asn98Ser) n.32-1347T>C c.863A>G (p.Asn288Ser) | gnomAD v4 |
18 | g.57694598T>G | CA402540989 | ATP8B1 | c.1013A>C (p.Asn338Thr) c.846A>C c.899A>C (p.Asn300Thr) c.293A>C (p.Asn98Thr) n.32-1347T>G c.863A>C (p.Asn288Thr) | |
18 | g.57694599T>A | CA402540992 | ATP8B1 | c.1012A>T (p.Asn338Tyr) c.845A>T c.898A>T (p.Asn300Tyr) c.292A>T (p.Asn98Tyr) n.32-1346T>A c.862A>T (p.Asn288Tyr) | |
18 | g.57694599T>C | CA402540993 | ATP8B1 | c.1012A>G (p.Asn338Asp) c.845A>G c.898A>G (p.Asn300Asp) c.292A>G (p.Asn98Asp) n.32-1346T>C c.862A>G (p.Asn288Asp) | |
18 | g.57694599T>G | CA402540991 | ATP8B1 | c.1012A>C (p.Asn338His) c.845A>C c.898A>C (p.Asn300His) c.292A>C (p.Asn98His) n.32-1346T>G c.862A>C (p.Asn288His) | |
18 | g.57694600C>A | CA402540997 | ATP8B1 | c.1011G>T (p.Met337Ile) c.844G>T c.897G>T (p.Met299Ile) c.291G>T (p.Met97Ile) n.32-1345C>A c.861G>T (p.Met287Ile) | |
18 | g.57694600C>G | CA402540999 | ATP8B1 | c.1011G>C (p.Met337Ile) c.844G>C c.897G>C (p.Met299Ile) c.291G>C (p.Met97Ile) n.32-1345C>G c.861G>C (p.Met287Ile) | |
18 | g.57694600C>T | CA402541001 | ATP8B1 | c.1011G>A (p.Met337Ile) c.844G>A c.897G>A (p.Met299Ile) c.291G>A (p.Met97Ile) n.32-1345C>T c.861G>A (p.Met287Ile) | |
18 | g.57694601A>C | CA402541003 | ATP8B1 | c.1010T>G (p.Met337Arg) c.843T>G c.896T>G (p.Met299Arg) c.290T>G (p.Met97Arg) n.32-1344A>C c.860T>G (p.Met287Arg) | |
18 | g.57694601A>G | CA402541006 | ATP8B1 | c.1010T>C (p.Met337Thr) c.843T>C c.896T>C (p.Met299Thr) c.290T>C (p.Met97Thr) n.32-1344A>G c.860T>C (p.Met287Thr) | |
18 | g.57694601A>T | CA402541007 | ATP8B1 | c.1010T>A (p.Met337Lys) c.843T>A c.896T>A (p.Met299Lys) c.290T>A (p.Met97Lys) n.32-1344A>T c.860T>A (p.Met287Lys) | |
18 | g.57694602T>A | CA402541010 | ATP8B1 | c.1009A>T (p.Met337Leu) c.842A>T c.895A>T (p.Met299Leu) c.289A>T (p.Met97Leu) n.32-1343T>A c.859A>T (p.Met287Leu) | |
18 | g.57694602T>C | CA402541014 | ATP8B1 | c.1009A>G (p.Met337Val) c.842A>G c.895A>G (p.Met299Val) c.289A>G (p.Met97Val) n.32-1343T>C c.859A>G (p.Met287Val) | |
18 | g.57694602T>G | CA402541012 | ATP8B1 | c.1009A>C (p.Met337Leu) c.842A>C c.895A>C (p.Met299Leu) c.289A>C (p.Met97Leu) n.32-1343T>G c.859A>C (p.Met287Leu) | |
18 | g.57694603C>A | CA402541017 | ATP8B1 | c.1008G>T (p.Leu336Phe) c.841G>T c.894G>T (p.Leu298Phe) c.288G>T (p.Leu96Phe) n.32-1342C>A c.858G>T (p.Leu286Phe) | |
18 | g.57694603C>G | CA402541019 | ATP8B1 | c.1008G>C (p.Leu336Phe) c.841G>C c.894G>C (p.Leu298Phe) c.288G>C (p.Leu96Phe) n.32-1342C>G c.858G>C (p.Leu286Phe) | |
18 | g.57694603C>T | CA504010248 | ATP8B1 | c.1008G>A (p.Leu336=) c.841G>A c.894G>A (p.Leu298=) c.288G>A (p.Leu96=) n.32-1342C>T c.858G>A (p.Leu286=) | |
18 | g.57694604A>C | CA402541021 | ATP8B1 | c.1007T>G (p.Leu336Trp) c.840T>G c.893T>G (p.Leu298Trp) c.287T>G (p.Leu96Trp) n.32-1341A>C c.857T>G (p.Leu286Trp) | |
18 | g.57694604A>G | CA402541022 | ATP8B1 | c.1007T>C (p.Leu336Ser) c.840T>C c.893T>C (p.Leu298Ser) c.287T>C (p.Leu96Ser) n.32-1341A>G c.857T>C (p.Leu286Ser) | |
18 | g.57694604A>T | CA402541023 | ATP8B1 | c.1007T>A (p.Leu336Ter) c.840T>A c.893T>A (p.Leu298Ter) c.287T>A (p.Leu96Ter) n.32-1341A>T c.857T>A (p.Leu286Ter) | |
18 | g.57694605A= | CA2306111639 | ATP8B1 | c.1006T= (p.Leu336=) c.839T= c.892T= (p.Leu298=) c.286T= (p.Leu96=) n.32-1340A= c.856T= (p.Leu286=) | |
18 | g.57694605A>C | CA402541027 | ATP8B1 | c.1006T>G (p.Leu336Val) c.839T>G c.892T>G (p.Leu298Val) c.286T>G (p.Leu96Val) n.32-1340A>C c.856T>G (p.Leu286Val) | |
18 | g.57694605A>G | CA504010249 | ATP8B1 | c.1006T>C (p.Leu336=) c.839T>C c.892T>C (p.Leu298=) c.286T>C (p.Leu96=) n.32-1340A>G c.856T>C (p.Leu286=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694605A>T | CA402541025 | ATP8B1 | c.1006T>A (p.Leu336Met) c.839T>A c.892T>A (p.Leu298Met) c.286T>A (p.Leu96Met) n.32-1340A>T c.856T>A (p.Leu286Met) | |
18 | g.57694606G>A | CA504010250 | ATP8B1 | c.1005C>T (p.Tyr335=) c.838C>T c.891C>T (p.Tyr297=) c.285C>T (p.Tyr95=) n.32-1339G>A c.855C>T (p.Tyr285=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.57694606G>C | CA402541029 | ATP8B1 | c.1005C>G (p.Tyr335Ter) c.838C>G c.891C>G (p.Tyr297Ter) c.285C>G (p.Tyr95Ter) n.32-1339G>C c.855C>G (p.Tyr285Ter) | gnomAD v4 |
18 | g.57694606G= | CA2306111640 | ATP8B1 | c.1005C= (p.Tyr335=) c.838C= c.891C= (p.Tyr297=) c.285C= (p.Tyr95=) n.32-1339G= c.855C= (p.Tyr285=) | |
18 | g.57694606G>T | CA402541030 | ATP8B1 | c.1005C>A (p.Tyr335Ter) c.838C>A c.891C>A (p.Tyr297Ter) c.285C>A (p.Tyr95Ter) n.32-1339G>T c.855C>A (p.Tyr285Ter) | gnomAD v4 |
18 | g.57694607T>A | CA402541034 | ATP8B1 | c.1004A>T (p.Tyr335Phe) c.837A>T c.890A>T (p.Tyr297Phe) c.284A>T (p.Tyr95Phe) n.32-1338T>A c.854A>T (p.Tyr285Phe) | gnomAD v4 |
18 | g.57694607T>C | CA402541036 | ATP8B1 | c.1004A>G (p.Tyr335Cys) c.837A>G c.890A>G (p.Tyr297Cys) c.284A>G (p.Tyr95Cys) n.32-1338T>C c.854A>G (p.Tyr285Cys) | gnomAD v4 |
18 | g.57694607T>G | CA402541037 | ATP8B1 | c.1004A>C (p.Tyr335Ser) c.837A>C c.890A>C (p.Tyr297Ser) c.284A>C (p.Tyr95Ser) n.32-1338T>G c.854A>C (p.Tyr285Ser) | |
18 | g.57694608A>C | CA402541041 | ATP8B1 | c.1003T>G (p.Tyr335Asp) c.836T>G c.889T>G (p.Tyr297Asp) c.283T>G (p.Tyr95Asp) n.32-1337A>C c.853T>G (p.Tyr285Asp) | |
18 | g.57694608A>G | CA402541097 | ATP8B1 | c.1003T>C (p.Tyr335His) c.836T>C c.889T>C (p.Tyr297His) c.283T>C (p.Tyr95His) n.32-1337A>G c.853T>C (p.Tyr285His) | gnomAD v4 |
18 | g.57694608A>T | CA402541100 | ATP8B1 | c.1003T>A (p.Tyr335Asn) c.836T>A c.889T>A (p.Tyr297Asn) c.283T>A (p.Tyr95Asn) n.32-1337A>T c.853T>A (p.Tyr285Asn) | |
18 | g.57694609A>C | CA402541104 | ATP8B1 | c.1002T>G (p.Asp334Glu) c.835T>G c.888T>G (p.Asp296Glu) c.282T>G (p.Asp94Glu) n.32-1336A>C c.852T>G (p.Asp284Glu) | |
18 | g.57694609A>G | CA504010251 | ATP8B1 | c.1002T>C (p.Asp334=) c.835T>C c.888T>C (p.Asp296=) c.282T>C (p.Asp94=) n.32-1336A>G c.852T>C (p.Asp284=) | |
18 | g.57694609A>T | CA402541106 | ATP8B1 | c.1002T>A (p.Asp334Glu) c.835T>A c.888T>A (p.Asp296Glu) c.282T>A (p.Asp94Glu) n.32-1336A>T c.852T>A (p.Asp284Glu) | |
18 | g.57694610T>A | CA402541109 | ATP8B1 | c.1001A>T (p.Asp334Val) c.834A>T c.887A>T (p.Asp296Val) c.281A>T (p.Asp94Val) n.32-1335T>A c.851A>T (p.Asp284Val) | |
18 | g.57694610T>C | CA402541111 | ATP8B1 | c.1001A>G (p.Asp334Gly) c.834A>G c.887A>G (p.Asp296Gly) c.281A>G (p.Asp94Gly) n.32-1335T>C c.851A>G (p.Asp284Gly) | dbSNP gnomAD v4 |
18 | g.57694610T>G | CA402541113 | ATP8B1 | c.1001A>C (p.Asp334Ala) c.834A>C c.887A>C (p.Asp296Ala) c.281A>C (p.Asp94Ala) n.32-1335T>G c.851A>C (p.Asp284Ala) | |
18 | g.57694610T= | CA2306111641 | ATP8B1 | c.1001A= (p.Asp334=) c.834A= c.887A= (p.Asp296=) c.281A= (p.Asp94=) n.32-1335T= c.851A= (p.Asp284=) | |
18 | g.57694611C>A | CA402541116 | ATP8B1 | c.1000G>T (p.Asp334Tyr) c.833G>T c.886G>T (p.Asp296Tyr) c.280G>T (p.Asp94Tyr) n.32-1334C>A c.850G>T (p.Asp284Tyr) | |
18 | g.57694611C>G | CA402541118 | ATP8B1 | c.1000G>C (p.Asp334His) c.833G>C c.886G>C (p.Asp296His) c.280G>C (p.Asp94His) n.32-1334C>G c.850G>C (p.Asp284His) | |
18 | g.57694611C>T | CA402541119 | ATP8B1 | c.1000G>A (p.Asp334Asn) c.833G>A c.886G>A (p.Asp296Asn) c.280G>A (p.Asp94Asn) n.32-1334C>T c.850G>A (p.Asp284Asn) | |
18 | g.57694612A>C | CA402541122 | ATP8B1 | c.999T>G (p.Ile333Met) c.832T>G c.885T>G (p.Ile295Met) c.279T>G (p.Ile93Met) n.32-1333A>C c.849T>G (p.Ile283Met) | |
18 | g.57694612A>G | CA504010252 | ATP8B1 | c.999T>C (p.Ile333=) c.832T>C c.885T>C (p.Ile295=) c.279T>C (p.Ile93=) n.32-1333A>G c.849T>C (p.Ile283=) | |
18 | g.57694612A>T | CA504010253 | ATP8B1 | c.999T>A (p.Ile333=) c.832T>A c.885T>A (p.Ile295=) c.279T>A (p.Ile93=) n.32-1333A>T c.849T>A (p.Ile283=) | |
18 | g.57694613A>C | CA402541124 | ATP8B1 | c.998T>G (p.Ile333Ser) c.831T>G c.884T>G (p.Ile295Ser) c.278T>G (p.Ile93Ser) n.32-1332A>C c.848T>G (p.Ile283Ser) | |
18 | g.57694613A>G | CA402541126 | ATP8B1 | c.998T>C (p.Ile333Thr) c.831T>C c.884T>C (p.Ile295Thr) c.278T>C (p.Ile93Thr) n.32-1332A>G c.848T>C (p.Ile283Thr) | |
18 | g.57694613A>T | CA402541128 | ATP8B1 | c.998T>A (p.Ile333Asn) c.831T>A c.884T>A (p.Ile295Asn) c.278T>A (p.Ile93Asn) n.32-1332A>T c.848T>A (p.Ile283Asn) | |
18 | g.57694614T>A | CA402541130 | ATP8B1 | c.997A>T (p.Ile333Phe) c.830A>T c.883A>T (p.Ile295Phe) c.277A>T (p.Ile93Phe) n.32-1331T>A c.847A>T (p.Ile283Phe) | |
18 | g.57694614T>C | CA402541132 | ATP8B1 | c.997A>G (p.Ile333Val) c.830A>G c.883A>G (p.Ile295Val) c.277A>G (p.Ile93Val) n.32-1331T>C c.847A>G (p.Ile283Val) | dbSNP |
18 | g.57694614T>G | CA402541134 | ATP8B1 | c.997A>C (p.Ile333Leu) c.830A>C c.883A>C (p.Ile295Leu) c.277A>C (p.Ile93Leu) n.32-1331T>G c.847A>C (p.Ile283Leu) | |
18 | g.57694614T= | CA2306111642 | ATP8B1 | c.997A= (p.Ile333=) c.830A= c.883A= (p.Ile295=) c.277A= (p.Ile93=) n.32-1331T= c.847A= (p.Ile283=) | |
18 | g.57694615T>A | CA402541139 | ATP8B1 | c.996A>T (p.Lys332Asn) c.829A>T c.882A>T (p.Lys294Asn) c.276A>T (p.Lys92Asn) n.32-1330T>A c.846A>T (p.Lys282Asn) | |
18 | g.57694615T>C | CA504010254 | ATP8B1 | c.996A>G (p.Lys332=) c.829A>G c.882A>G (p.Lys294=) c.276A>G (p.Lys92=) n.32-1330T>C c.846A>G (p.Lys282=) | |
18 | g.57694615T>G | CA402541141 | ATP8B1 | c.996A>C (p.Lys332Asn) c.829A>C c.882A>C (p.Lys294Asn) c.276A>C (p.Lys92Asn) n.32-1330T>G c.846A>C (p.Lys282Asn) | |
18 | g.57694616T>A | CA402541143 | ATP8B1 | c.995A>T (p.Lys332Ile) c.828A>T c.881A>T (p.Lys294Ile) c.275A>T (p.Lys92Ile) n.32-1329T>A c.845A>T (p.Lys282Ile) | |
18 | g.57694616T>C | CA402541145 | ATP8B1 | c.995A>G (p.Lys332Arg) c.828A>G c.881A>G (p.Lys294Arg) c.275A>G (p.Lys92Arg) n.32-1329T>C c.845A>G (p.Lys282Arg) | |
18 | g.57694616T>G | CA402541148 | ATP8B1 | c.995A>C (p.Lys332Thr) c.828A>C c.881A>C (p.Lys294Thr) c.275A>C (p.Lys92Thr) n.32-1329T>G c.845A>C (p.Lys282Thr) | |
18 | g.57694617T>A | CA402541151 | ATP8B1 | c.994A>T (p.Lys332Ter) c.827A>T c.880A>T (p.Lys294Ter) c.274A>T (p.Lys92Ter) n.32-1328T>A c.844A>T (p.Lys282Ter) | |
18 | g.57694617T>C | CA402541154 | ATP8B1 | c.994A>G (p.Lys332Glu) c.827A>G c.880A>G (p.Lys294Glu) c.274A>G (p.Lys92Glu) n.32-1328T>C c.844A>G (p.Lys282Glu) | COSMIC |
18 | g.57694617T>G | CA402541157 | ATP8B1 | c.994A>C (p.Lys332Gln) c.827A>C c.880A>C (p.Lys294Gln) c.274A>C (p.Lys92Gln) n.32-1328T>G c.844A>C (p.Lys282Gln) | |
18 | g.57694618A>C | CA504010255 | ATP8B1 | c.993T>G (p.Thr331=) c.826T>G c.879T>G (p.Thr293=) c.273T>G (p.Thr91=) n.32-1327A>C c.843T>G (p.Thr281=) | |
18 | g.57694618A>G | CA504010256 | ATP8B1 | c.993T>C (p.Thr331=) c.826T>C c.879T>C (p.Thr293=) c.273T>C (p.Thr91=) n.32-1327A>G c.843T>C (p.Thr281=) | gnomAD v4 |
18 | g.57694618A>T | CA504010257 | ATP8B1 | c.993T>A (p.Thr331=) c.826T>A c.879T>A (p.Thr293=) c.273T>A (p.Thr91=) n.32-1327A>T c.843T>A (p.Thr281=) | |
18 | g.57694619G>A | CA402541162 | ATP8B1 | c.992C>T (p.Thr331Ile) c.825C>T c.878C>T (p.Thr293Ile) c.272C>T (p.Thr91Ile) n.32-1326G>A c.842C>T (p.Thr281Ile) | |
18 | g.57694619G>C | CA402541169 | ATP8B1 | c.992C>G (p.Thr331Ser) c.825C>G c.878C>G (p.Thr293Ser) c.272C>G (p.Thr91Ser) n.32-1326G>C c.842C>G (p.Thr281Ser) | |
18 | g.57694619G>T | CA402541165 | ATP8B1 | c.992C>A (p.Thr331Asn) c.825C>A c.878C>A (p.Thr293Asn) c.272C>A (p.Thr91Asn) n.32-1326G>T c.842C>A (p.Thr281Asn) | |
18 | g.57694620T>A | CA402541172 | ATP8B1 | c.991A>T (p.Thr331Ser) c.824A>T c.877A>T (p.Thr293Ser) c.271A>T (p.Thr91Ser) n.32-1325T>A c.841A>T (p.Thr281Ser) | |
18 | g.57694620T>C | CA402541175 | ATP8B1 | c.991A>G (p.Thr331Ala) c.824A>G c.877A>G (p.Thr293Ala) c.271A>G (p.Thr91Ala) n.32-1325T>C c.841A>G (p.Thr281Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694620T>G | CA402541177 | ATP8B1 | c.991A>C (p.Thr331Pro) c.824A>C c.877A>C (p.Thr293Pro) c.271A>C (p.Thr91Pro) n.32-1325T>G c.841A>C (p.Thr281Pro) | |
18 | g.57694620T= | CA2306111643 | ATP8B1 | c.991A= (p.Thr331=) c.824A= c.877A= (p.Thr293=) c.271A= (p.Thr91=) n.32-1325T= c.841A= (p.Thr281=) | |
18 | g.57694621T>A | CA402541181 | ATP8B1 | c.990A>T (p.Arg330Ser) c.823A>T c.876A>T (p.Arg292Ser) c.270A>T (p.Arg90Ser) n.32-1324T>A c.840A>T (p.Arg280Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694621T>C | CA504010258 | ATP8B1 | c.990A>G (p.Arg330=) c.823A>G c.876A>G (p.Arg292=) c.270A>G (p.Arg90=) n.32-1324T>C c.840A>G (p.Arg280=) | gnomAD v4 |
18 | g.57694621T>G | CA402541185 | ATP8B1 | c.990A>C (p.Arg330Ser) c.823A>C c.876A>C (p.Arg292Ser) c.270A>C (p.Arg90Ser) n.32-1324T>G c.840A>C (p.Arg280Ser) | |
18 | g.57694621T= | CA2306111644 | ATP8B1 | c.990A= (p.Arg330=) c.823A= c.876A= (p.Arg292=) c.270A= (p.Arg90=) n.32-1324T= c.840A= (p.Arg280=) | |
18 | g.57694622C>A | CA300861369 | ATP8B1 | c.989G>T (p.Arg330Ile) c.822G>T c.875G>T (p.Arg292Ile) c.269G>T (p.Arg90Ile) n.32-1323C>A c.839G>T (p.Arg280Ile) | dbSNP gnomAD v4 |
18 | g.57694622C= | CA2306111645 | ATP8B1 | c.989G= (p.Arg330=) c.822G= c.875G= (p.Arg292=) c.269G= (p.Arg90=) n.32-1323C= c.839G= (p.Arg280=) | |
18 | g.57694622C>G | CA402541192 | ATP8B1 | c.989G>C (p.Arg330Thr) c.822G>C c.875G>C (p.Arg292Thr) c.269G>C (p.Arg90Thr) n.32-1323C>G c.839G>C (p.Arg280Thr) | |
18 | g.57694622C>T | CA402541196 | ATP8B1 | c.989G>A (p.Arg330Lys) c.822G>A c.875G>A (p.Arg292Lys) c.269G>A (p.Arg90Lys) n.32-1323C>T c.839G>A (p.Arg280Lys) | gnomAD v4 COSMIC |
18 | g.57694623T>A | CA402541201 | ATP8B1 | c.988A>T (p.Arg330Ter) c.821A>T c.874A>T (p.Arg292Ter) c.268A>T (p.Arg90Ter) n.32-1322T>A c.838A>T (p.Arg280Ter) | |
18 | g.57694623T>C | CA402541203 | ATP8B1 | c.988A>G (p.Arg330Gly) c.821A>G c.874A>G (p.Arg292Gly) c.268A>G (p.Arg90Gly) n.32-1322T>C c.838A>G (p.Arg280Gly) | gnomAD v4 |
18 | g.57694623T>G | CA504010259 | ATP8B1 | c.988A>C (p.Arg330=) c.821A>C c.874A>C (p.Arg292=) c.268A>C (p.Arg90=) n.32-1322T>G c.838A>C (p.Arg280=) | |
18 | g.57694626del | CA2641954717 | ATP8B1 | c.988del (p.Arg330GlufsTer7) c.821del c.874del (p.Arg292GlufsTer7) c.268del (p.Arg90GlufsTer7) n.32-1319del c.838del (p.Arg280GlufsTer7) | gnomAD v4 |
18 | g.57694624T>A | CA402541206 | ATP8B1 | c.987A>T (p.Lys329Asn) c.820A>T c.873A>T (p.Lys291Asn) c.267A>T (p.Lys89Asn) n.32-1321T>A c.837A>T (p.Lys279Asn) | |
18 | g.57694624T>C | CA504010260 | ATP8B1 | c.987A>G (p.Lys329=) c.820A>G c.873A>G (p.Lys291=) c.267A>G (p.Lys89=) n.32-1321T>C c.837A>G (p.Lys279=) | |
18 | g.57694624T>G | CA402541208 | ATP8B1 | c.987A>C (p.Lys329Asn) c.820A>C c.873A>C (p.Lys291Asn) c.267A>C (p.Lys89Asn) n.32-1321T>G c.837A>C (p.Lys279Asn) | |
18 | g.57694625T>A | CA402541216 | ATP8B1 | c.986A>T (p.Lys329Ile) c.819A>T c.872A>T (p.Lys291Ile) c.266A>T (p.Lys89Ile) n.32-1320T>A c.836A>T (p.Lys279Ile) | |
18 | g.57694625T>C | CA402541229 | ATP8B1 | c.986A>G (p.Lys329Arg) c.819A>G c.872A>G (p.Lys291Arg) c.266A>G (p.Lys89Arg) n.32-1320T>C c.836A>G (p.Lys279Arg) | |
18 | g.57694625T>G | CA402541213 | ATP8B1 | c.986A>C (p.Lys329Thr) c.819A>C c.872A>C (p.Lys291Thr) c.266A>C (p.Lys89Thr) n.32-1320T>G c.836A>C (p.Lys279Thr) | |
18 | g.57694626T>A | CA402541233 | ATP8B1 | c.985A>T (p.Lys329Ter) c.818A>T c.871A>T (p.Lys291Ter) c.265A>T (p.Lys89Ter) n.32-1319T>A c.835A>T (p.Lys279Ter) | gnomAD v4 |
18 | g.57694626T>C | CA402541235 | ATP8B1 | c.985A>G (p.Lys329Glu) c.818A>G c.871A>G (p.Lys291Glu) c.265A>G (p.Lys89Glu) n.32-1319T>C c.835A>G (p.Lys279Glu) | |
18 | g.57694626T>G | CA402541238 | ATP8B1 | c.985A>C (p.Lys329Gln) c.818A>C c.871A>C (p.Lys291Gln) c.265A>C (p.Lys89Gln) n.32-1319T>G c.835A>C (p.Lys279Gln) | |
18 | g.57694627A>C | CA402541243 | ATP8B1 | c.984T>G (p.Phe328Leu) c.817T>G c.870T>G (p.Phe290Leu) c.264T>G (p.Phe88Leu) n.32-1318A>C c.834T>G (p.Phe278Leu) | |
18 | g.57694627A>G | CA504010261 | ATP8B1 | c.984T>C (p.Phe328=) c.817T>C c.870T>C (p.Phe290=) c.264T>C (p.Phe88=) n.32-1318A>G c.834T>C (p.Phe278=) | |
18 | g.57694627A>T | CA402541247 | ATP8B1 | c.984T>A (p.Phe328Leu) c.817T>A c.870T>A (p.Phe290Leu) c.264T>A (p.Phe88Leu) n.32-1318A>T c.834T>A (p.Phe278Leu) | |
18 | g.57694628A= | CA2306111646 | ATP8B1 | c.983T= (p.Phe328=) c.816T= c.869T= (p.Phe290=) c.263T= (p.Phe88=) n.32-1317A= c.833T= (p.Phe278=) | |
18 | g.57694628A>C | CA402541256 | ATP8B1 | c.983T>G (p.Phe328Cys) c.816T>G c.869T>G (p.Phe290Cys) c.263T>G (p.Phe88Cys) n.32-1317A>C c.833T>G (p.Phe278Cys) | |
18 | g.57694628A>G | CA402541250 | ATP8B1 | c.983T>C (p.Phe328Ser) c.816T>C c.869T>C (p.Phe290Ser) c.263T>C (p.Phe88Ser) n.32-1317A>G c.833T>C (p.Phe278Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694628A>T | CA402541254 | ATP8B1 | c.983T>A (p.Phe328Tyr) c.816T>A c.869T>A (p.Phe290Tyr) c.263T>A (p.Phe88Tyr) n.32-1317A>T c.833T>A (p.Phe278Tyr) | |
18 | g.57694629A>C | CA402541261 | ATP8B1 | c.982T>G (p.Phe328Val) c.815T>G c.868T>G (p.Phe290Val) c.262T>G (p.Phe88Val) n.32-1316A>C c.832T>G (p.Phe278Val) | |
18 | g.57694629A>G | CA402541262 | ATP8B1 | c.982T>C (p.Phe328Leu) c.815T>C c.868T>C (p.Phe290Leu) c.262T>C (p.Phe88Leu) n.32-1316A>G c.832T>C (p.Phe278Leu) | gnomAD v4 |
18 | g.57694629A>T | CA402541266 | ATP8B1 | c.982T>A (p.Phe328Ile) c.815T>A c.868T>A (p.Phe290Ile) c.262T>A (p.Phe88Ile) n.32-1316A>T c.832T>A (p.Phe278Ile) | |
18 | g.57694630T>A | CA402541268 | ATP8B1 | c.981A>T (p.Arg327Ser) c.814A>T c.867A>T (p.Arg289Ser) c.261A>T (p.Arg87Ser) n.32-1315T>A c.831A>T (p.Arg277Ser) | |
18 | g.57694630T>C | CA504010262 | ATP8B1 | c.981A>G (p.Arg327=) c.814A>G c.867A>G (p.Arg289=) c.261A>G (p.Arg87=) n.32-1315T>C c.831A>G (p.Arg277=) | |
18 | g.57694630T>G | CA402541273 | ATP8B1 | c.981A>C (p.Arg327Ser) c.814A>C c.867A>C (p.Arg289Ser) c.261A>C (p.Arg87Ser) n.32-1315T>G c.831A>C (p.Arg277Ser) | |
18 | g.57694631C>A | CA402541285 | ATP8B1 | c.980G>T (p.Arg327Ile) c.813G>T c.866G>T (p.Arg289Ile) c.260G>T (p.Arg87Ile) n.32-1314C>A c.830G>T (p.Arg277Ile) | |
18 | g.57694631C>G | CA402541277 | ATP8B1 | c.980G>C (p.Arg327Thr) c.813G>C c.866G>C (p.Arg289Thr) c.260G>C (p.Arg87Thr) n.32-1314C>G c.830G>C (p.Arg277Thr) | |
18 | g.57694631C>T | CA402541282 | ATP8B1 | c.980G>A (p.Arg327Lys) c.813G>A c.866G>A (p.Arg289Lys) c.260G>A (p.Arg87Lys) n.32-1314C>T c.830G>A (p.Arg277Lys) | |
18 | g.57694632T>A | CA402541291 | ATP8B1 | c.979A>T (p.Arg327Ter) c.812A>T c.865A>T (p.Arg289Ter) c.259A>T (p.Arg87Ter) n.32-1313T>A c.829A>T (p.Arg277Ter) | |
18 | g.57694632T>C | CA402541292 | ATP8B1 | c.979A>G (p.Arg327Gly) c.812A>G c.865A>G (p.Arg289Gly) c.259A>G (p.Arg87Gly) n.32-1313T>C c.829A>G (p.Arg277Gly) | |
18 | g.57694632T>G | CA504010263 | ATP8B1 | c.979A>C (p.Arg327=) c.812A>C c.865A>C (p.Arg289=) c.259A>C (p.Arg87=) n.32-1313T>G c.829A>C (p.Arg277=) | |
18 | g.57694633G>A | CA504010264 | ATP8B1 | c.978C>T (p.Thr326=) c.811C>T c.864C>T (p.Thr288=) c.258C>T (p.Thr86=) n.32-1312G>A c.828C>T (p.Thr276=) | COSMIC |
18 | g.57694633G>C | CA504010265 | ATP8B1 | c.978C>G (p.Thr326=) c.811C>G c.864C>G (p.Thr288=) c.258C>G (p.Thr86=) n.32-1312G>C c.828C>G (p.Thr276=) | |
18 | g.57694633G>T | CA504010266 | ATP8B1 | c.978C>A (p.Thr326=) c.811C>A c.864C>A (p.Thr288=) c.258C>A (p.Thr86=) n.32-1312G>T c.828C>A (p.Thr276=) | |
18 | g.57694634G>A | CA402541295 | ATP8B1 | c.977C>T (p.Thr326Ile) c.810C>T c.863C>T (p.Thr288Ile) c.257C>T (p.Thr86Ile) n.32-1311G>A c.827C>T (p.Thr276Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57694634G>C | CA402541298 | ATP8B1 | c.977C>G (p.Thr326Ser) c.810C>G c.863C>G (p.Thr288Ser) c.257C>G (p.Thr86Ser) n.32-1311G>C c.827C>G (p.Thr276Ser) | |
18 | g.57694634G= | CA2306111647 | ATP8B1 | c.977C= (p.Thr326=) c.810C= c.863C= (p.Thr288=) c.257C= (p.Thr86=) n.32-1311G= c.827C= (p.Thr276=) | |
18 | g.57694634G>T | CA402541301 | ATP8B1 | c.977C>A (p.Thr326Asn) c.810C>A c.863C>A (p.Thr288Asn) c.257C>A (p.Thr86Asn) n.32-1311G>T c.827C>A (p.Thr276Asn) | gnomAD v4 |
18 | g.57694635T>A | CA402541307 | ATP8B1 | c.976A>T (p.Thr326Ser) c.809A>T c.862A>T (p.Thr288Ser) c.256A>T (p.Thr86Ser) n.32-1310T>A c.826A>T (p.Thr276Ser) | |
18 | g.57694635T>C | CA8974682 | ATP8B1 | c.976A>G (p.Thr326Ala) c.809A>G c.862A>G (p.Thr288Ala) c.256A>G (p.Thr86Ala) n.32-1310T>C c.826A>G (p.Thr276Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694635T>G | CA402541313 | ATP8B1 | c.976A>C (p.Thr326Pro) c.809A>C c.862A>C (p.Thr288Pro) c.256A>C (p.Thr86Pro) n.32-1310T>G c.826A>C (p.Thr276Pro) | |
18 | g.57694635T= | CA2306111648 | ATP8B1 | c.976A= (p.Thr326=) c.809A= c.862A= (p.Thr288=) c.256A= (p.Thr86=) n.32-1310T= c.826A= (p.Thr276=) | |
18 | g.57694636T>A | CA402541322 | ATP8B1 | c.975A>T (p.Lys325Asn) c.808A>T c.861A>T (p.Lys287Asn) c.255A>T (p.Lys85Asn) n.32-1309T>A c.825A>T (p.Lys275Asn) | |
18 | g.57694636T>C | CA504010267 | ATP8B1 | c.975A>G (p.Lys325=) c.808A>G c.861A>G (p.Lys287=) c.255A>G (p.Lys85=) n.32-1309T>C c.825A>G (p.Lys275=) | |
18 | g.57694636T>G | CA402541319 | ATP8B1 | c.975A>C (p.Lys325Asn) c.808A>C c.861A>C (p.Lys287Asn) c.255A>C (p.Lys85Asn) n.32-1309T>G c.825A>C (p.Lys275Asn) | gnomAD v4 |
18 | g.57694637T>A | CA402541325 | ATP8B1 | c.974A>T (p.Lys325Ile) c.807A>T c.860A>T (p.Lys287Ile) c.254A>T (p.Lys85Ile) n.32-1308T>A c.824A>T (p.Lys275Ile) | |
18 | g.57694637T>C | CA402541328 | ATP8B1 | c.974A>G (p.Lys325Arg) c.807A>G c.860A>G (p.Lys287Arg) c.254A>G (p.Lys85Arg) n.32-1308T>C c.824A>G (p.Lys275Arg) | |
18 | g.57694637T>G | CA402541332 | ATP8B1 | c.974A>C (p.Lys325Thr) c.807A>C c.860A>C (p.Lys287Thr) c.254A>C (p.Lys85Thr) n.32-1308T>G c.824A>C (p.Lys275Thr) | |
18 | g.57694638T>A | CA402541335 | ATP8B1 | c.973A>T (p.Lys325Ter) c.806A>T c.859A>T (p.Lys287Ter) c.253A>T (p.Lys85Ter) n.32-1307T>A c.823A>T (p.Lys275Ter) | |
18 | g.57694638T>C | CA300861375 | ATP8B1 | c.973A>G (p.Lys325Glu) c.806A>G c.859A>G (p.Lys287Glu) c.253A>G (p.Lys85Glu) n.32-1307T>C c.823A>G (p.Lys275Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694638T>G | CA402541341 | ATP8B1 | c.973A>C (p.Lys325Gln) c.806A>C c.859A>C (p.Lys287Gln) c.253A>C (p.Lys85Gln) n.32-1307T>G c.823A>C (p.Lys275Gln) | |
18 | g.57694638T= | CA2306111649 | ATP8B1 | c.973A= (p.Lys325=) c.806A= c.859A= (p.Lys287=) c.253A= (p.Lys85=) n.32-1307T= c.823A= (p.Lys275=) | |
18 | g.57694639C>A | CA504010268 | ATP8B1 | c.972G>T (p.Gly324=) c.805G>T c.858G>T (p.Gly286=) c.252G>T (p.Gly84=) n.32-1306C>A c.822G>T (p.Gly274=) | |
18 | g.57694639C>G | CA504010269 | ATP8B1 | c.972G>C (p.Gly324=) c.805G>C c.858G>C (p.Gly286=) c.252G>C (p.Gly84=) n.32-1306C>G c.822G>C (p.Gly274=) | |
18 | g.57694639C>T | CA504010270 | ATP8B1 | c.972G>A (p.Gly324=) c.805G>A c.858G>A (p.Gly286=) c.252G>A (p.Gly84=) n.32-1306C>T c.822G>A (p.Gly274=) | gnomAD v4 |
18 | g.57694640C>A | CA402541351 | ATP8B1 | c.971G>T (p.Gly324Val) c.804G>T c.857G>T (p.Gly286Val) c.251G>T (p.Gly84Val) n.32-1305C>A c.821G>T (p.Gly274Val) | |
18 | g.57694640C>G | CA402541345 | ATP8B1 | c.971G>C (p.Gly324Ala) c.804G>C c.857G>C (p.Gly286Ala) c.251G>C (p.Gly84Ala) n.32-1305C>G c.821G>C (p.Gly274Ala) | |
18 | g.57694640C>T | CA402541348 | ATP8B1 | c.971G>A (p.Gly324Glu) c.804G>A c.857G>A (p.Gly286Glu) c.251G>A (p.Gly84Glu) n.32-1305C>T c.821G>A (p.Gly274Glu) | gnomAD v4 |
18 | g.57694641C>A | CA402541355 | ATP8B1 | c.970G>T (p.Gly324Trp) c.803G>T c.856G>T (p.Gly286Trp) c.250G>T (p.Gly84Trp) n.32-1304C>A c.820G>T (p.Gly274Trp) | |
18 | g.57694641C>G | CA402541359 | ATP8B1 | c.970G>C (p.Gly324Arg) c.803G>C c.856G>C (p.Gly286Arg) c.250G>C (p.Gly84Arg) n.32-1304C>G c.820G>C (p.Gly274Arg) | |
18 | g.57694641C>T | CA402541362 | ATP8B1 | c.970G>A (p.Gly324Arg) c.803G>A c.856G>A (p.Gly286Arg) c.250G>A (p.Gly84Arg) n.32-1304C>T c.820G>A (p.Gly274Arg) | |
18 | g.57694642A= | CA2306111650 | ATP8B1 | c.969T= (p.Ser323=) c.802T= c.855T= (p.Ser285=) c.249T= (p.Ser83=) n.32-1303A= c.819T= (p.Ser273=) | |
18 | g.57694642A>C | CA402541366 | ATP8B1 | c.969T>G (p.Ser323Arg) c.802T>G c.855T>G (p.Ser285Arg) c.249T>G (p.Ser83Arg) n.32-1303A>C c.819T>G (p.Ser273Arg) | |
18 | g.57694642A>G | CA504010271 | ATP8B1 | c.969T>C (p.Ser323=) c.802T>C c.855T>C (p.Ser285=) c.249T>C (p.Ser83=) n.32-1303A>G c.819T>C (p.Ser273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57694642A>T | CA402541369 | ATP8B1 | c.969T>A (p.Ser323Arg) c.802T>A c.855T>A (p.Ser285Arg) c.249T>A (p.Ser83Arg) n.32-1303A>T c.819T>A (p.Ser273Arg) | |
18 | g.57694643C>A | CA402541374 | ATP8B1 | c.968G>T (p.Ser323Ile) c.801G>T c.854G>T (p.Ser285Ile) c.248G>T (p.Ser83Ile) n.32-1302C>A c.818G>T (p.Ser273Ile) | |
18 | g.57694643C= | CA2306111651 | ATP8B1 | c.968G= (p.Ser323=) c.801G= c.854G= (p.Ser285=) c.248G= (p.Ser83=) n.32-1302C= c.818G= (p.Ser273=) | |
18 | g.57694643C>G | CA402541376 | ATP8B1 | c.968G>C (p.Ser323Thr) c.801G>C c.854G>C (p.Ser285Thr) c.248G>C (p.Ser83Thr) n.32-1302C>G c.818G>C (p.Ser273Thr) | gnomAD v4 |
18 | g.57694643C>T | CA8974683 | ATP8B1 | c.968G>A (p.Ser323Asn) c.801G>A c.854G>A (p.Ser285Asn) c.248G>A (p.Ser83Asn) n.32-1302C>T c.818G>A (p.Ser273Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57694644T>A | CA402541382 | ATP8B1 | c.967A>T (p.Ser323Cys) c.800A>T c.853A>T (p.Ser285Cys) c.247A>T (p.Ser83Cys) n.32-1301T>A c.817A>T (p.Ser273Cys) | |
18 | g.57694644T>C | CA402541384 | ATP8B1 | c.967A>G (p.Ser323Gly) c.800A>G c.853A>G (p.Ser285Gly) c.247A>G (p.Ser83Gly) n.32-1301T>C c.817A>G (p.Ser273Gly) | |
18 | g.57694644T>G | CA402541387 | ATP8B1 | c.967A>C (p.Ser323Arg) c.800A>C c.853A>C (p.Ser285Arg) c.247A>C (p.Ser83Arg) n.32-1301T>G c.817A>C (p.Ser273Arg) | |
18 | g.57694645_57694646del | CA2735086230 | ATP8B1 | c.966_967del (p.Asn322LysfsTer7) c.799_800del c.852_853del (p.Asn284LysfsTer7) c.246_247del (p.Asn82LysfsTer7) n.32-1300_32-1299del c.816_817del (p.Asn272LysfsTer7) | dbSNP |
18 | g.57694648_57694657del | CA2695227607 | ATP8B1 | c.958_967del (p.Met320ValfsTer14) c.791_800del c.844_853del (p.Met282ValfsTer14) c.238_247del (p.Met80ValfsTer14) n.32-1297_32-1288del c.808_817del (p.Met270ValfsTer14) | |
18 | g.57694645A= | CA2306111652 | ATP8B1 | c.966T= (p.Asn322=) c.799T= c.852T= (p.Asn284=) c.246T= (p.Asn82=) n.32-1300A= c.816T= (p.Asn272=) | |
18 | g.57694645A>C | CA402541392 | ATP8B1 | c.966T>G (p.Asn322Lys) c.799T>G c.852T>G (p.Asn284Lys) c.246T>G (p.Asn82Lys) n.32-1300A>C c.816T>G (p.Asn272Lys) | |
18 | g.57694645A>G | CA300861381 | ATP8B1 | c.966T>C (p.Asn322=) c.799T>C c.852T>C (p.Asn284=) c.246T>C (p.Asn82=) n.32-1300A>G c.816T>C (p.Asn272=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694645A>T | CA402541398 | ATP8B1 | c.966T>A (p.Asn322Lys) c.799T>A c.852T>A (p.Asn284Lys) c.246T>A (p.Asn82Lys) n.32-1300A>T c.816T>A (p.Asn272Lys) | |
18 | g.57694646T>A | CA402541408 | ATP8B1 | c.965A>T (p.Asn322Ile) c.798A>T c.851A>T (p.Asn284Ile) c.245A>T (p.Asn82Ile) n.32-1299T>A c.815A>T (p.Asn272Ile) | |
18 | g.57694646T>C | CA8974684 | ATP8B1 | c.965A>G (p.Asn322Ser) c.798A>G c.851A>G (p.Asn284Ser) c.245A>G (p.Asn82Ser) n.32-1299T>C c.815A>G (p.Asn272Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57694646T>G | CA402541404 | ATP8B1 | c.965A>C (p.Asn322Thr) c.798A>C c.851A>C (p.Asn284Thr) c.245A>C (p.Asn82Thr) n.32-1299T>G c.815A>C (p.Asn272Thr) | |
18 | g.57694646T= | CA2306111653 | ATP8B1 | c.965A= (p.Asn322=) c.798A= c.851A= (p.Asn284=) c.245A= (p.Asn82=) n.32-1299T= c.815A= (p.Asn272=) | |
18 | g.57694649_57694651del | CA2576512569 | ATP8B1 | c.963_965del (p.Lys321del) c.796_798del c.849_851del (p.Lys283del) c.243_245del (p.Lys81del) n.32-1296_32-1294del c.813_815del (p.Lys271del) | |
18 | g.57694647T>A | CA402541425 | ATP8B1 | c.964A>T (p.Asn322Tyr) c.797A>T c.850A>T (p.Asn284Tyr) c.244A>T (p.Asn82Tyr) n.32-1298T>A c.814A>T (p.Asn272Tyr) | |
18 | g.57694647T>C | CA402541427 | ATP8B1 | c.964A>G (p.Asn322Asp) c.797A>G c.850A>G (p.Asn284Asp) c.244A>G (p.Asn82Asp) n.32-1298T>C c.814A>G (p.Asn272Asp) | |
18 | g.57694647T>G | CA402541431 | ATP8B1 | c.964A>C (p.Asn322His) c.797A>C c.850A>C (p.Asn284His) c.244A>C (p.Asn82His) n.32-1298T>G c.814A>C (p.Asn272His) | |
18 | g.57694648C>A | CA402541436 | ATP8B1 | c.963G>T (p.Lys321Asn) c.796G>T c.849G>T (p.Lys283Asn) c.243G>T (p.Lys81Asn) n.32-1297C>A c.813G>T (p.Lys271Asn) | |
18 | g.57694648C>G | CA402541438 | ATP8B1 | c.963G>C (p.Lys321Asn) c.796G>C c.849G>C (p.Lys283Asn) c.243G>C (p.Lys81Asn) n.32-1297C>G c.813G>C (p.Lys271Asn) | gnomAD v4 |
18 | g.57694648C>T | CA504010272 | ATP8B1 | c.963G>A (p.Lys321=) c.796G>A c.849G>A (p.Lys283=) c.243G>A (p.Lys81=) n.32-1297C>T c.813G>A (p.Lys271=) | |
18 | g.57694649T>A | CA402541455 | ATP8B1 | c.962A>T (p.Lys321Met) c.795A>T c.848A>T (p.Lys283Met) c.242A>T (p.Lys81Met) n.32-1296T>A c.812A>T (p.Lys271Met) | |
18 | g.57694649T>C | CA402541454 | ATP8B1 | c.962A>G (p.Lys321Arg) c.795A>G c.848A>G (p.Lys283Arg) c.242A>G (p.Lys81Arg) n.32-1296T>C c.812A>G (p.Lys271Arg) | gnomAD v4 |
18 | g.57694649T>G | CA402541452 | ATP8B1 | c.962A>C (p.Lys321Thr) c.795A>C c.848A>C (p.Lys283Thr) c.242A>C (p.Lys81Thr) n.32-1296T>G c.812A>C (p.Lys271Thr) | |
18 | g.57694650T>A | CA402541456 | ATP8B1 | c.961A>T (p.Lys321Ter) c.794A>T c.847A>T (p.Lys283Ter) c.241A>T (p.Lys81Ter) n.32-1295T>A c.811A>T (p.Lys271Ter) | |
18 | g.57694650T>C | CA402541458 | ATP8B1 | c.961A>G (p.Lys321Glu) c.794A>G c.847A>G (p.Lys283Glu) c.241A>G (p.Lys81Glu) n.32-1295T>C c.811A>G (p.Lys271Glu) | |
18 | g.57694650T>G | CA402541459 | ATP8B1 | c.961A>C (p.Lys321Gln) c.794A>C c.847A>C (p.Lys283Gln) c.241A>C (p.Lys81Gln) n.32-1295T>G c.811A>C (p.Lys271Gln) | |
18 | g.57694651C>A | CA402541461 | ATP8B1 | c.960G>T (p.Met320Ile) c.793G>T c.846G>T (p.Met282Ile) c.240G>T (p.Met80Ile) n.32-1294C>A c.810G>T (p.Met270Ile) | |
18 | g.57694651C>G | CA402541463 | ATP8B1 | c.960G>C (p.Met320Ile) c.793G>C c.846G>C (p.Met282Ile) c.240G>C (p.Met80Ile) n.32-1294C>G c.810G>C (p.Met270Ile) | |
18 | g.57694651C>T | CA402541465 | ATP8B1 | c.960G>A (p.Met320Ile) c.793G>A c.846G>A (p.Met282Ile) c.240G>A (p.Met80Ile) n.32-1294C>T c.810G>A (p.Met270Ile) | |
18 | g.57694652A= | CA2306111654 | ATP8B1 | c.959T= (p.Met320=) c.792T= c.845T= (p.Met282=) c.239T= (p.Met80=) n.32-1293A= c.809T= (p.Met270=) | |
18 | g.57694652A>C | CA402541481 | ATP8B1 | c.959T>G (p.Met320Arg) c.792T>G c.845T>G (p.Met282Arg) c.239T>G (p.Met80Arg) n.32-1293A>C c.809T>G (p.Met270Arg) | |
18 | g.57694652A>G | CA402541471 | ATP8B1 | c.959T>C (p.Met320Thr) c.792T>C c.845T>C (p.Met282Thr) c.239T>C (p.Met80Thr) n.32-1293A>G c.809T>C (p.Met270Thr) | gnomAD v4 |
18 | g.57694652A>T | CA402541479 | ATP8B1 | c.959T>A (p.Met320Lys) c.792T>A c.845T>A (p.Met282Lys) c.239T>A (p.Met80Lys) n.32-1293A>T c.809T>A (p.Met270Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57694653T>A | CA402541484 | ATP8B1 | c.958A>T (p.Met320Leu) c.791A>T c.844A>T (p.Met282Leu) c.238A>T (p.Met80Leu) n.32-1292T>A c.808A>T (p.Met270Leu) | |
18 | g.57694653T>C | CA402541489 | ATP8B1 | c.958A>G (p.Met320Val) c.791A>G c.844A>G (p.Met282Val) c.238A>G (p.Met80Val) n.32-1292T>C c.808A>G (p.Met270Val) | |
18 | g.57694653T>G | CA402541492 | ATP8B1 | c.958A>C (p.Met320Leu) c.791A>C c.844A>C (p.Met282Leu) c.238A>C (p.Met80Leu) n.32-1292T>G c.808A>C (p.Met270Leu) | |
18 | g.57694654del | CA2641954718 | ATP8B1 | c.958del (p.Met320Ter) c.791del c.844del (p.Met282Ter) c.238del (p.Met80Ter) n.32-1291del c.808del (p.Met270Ter) | gnomAD v4 |