Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.57694597G>ACA8974681ATP8B1c.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
18g.57694597G>CCA402540975ATP8B1c.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)
18g.57694597G=CA2306111638ATP8B1c.1014C= (p.Asn338=)
c.847C=
c.900C= (p.Asn300=)
c.294C= (p.Asn98=)
n.32-1348G=
c.864C= (p.Asn288=)
18g.57694597G>TCA402540976ATP8B1c.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
18g.57694598T>ACA402540979ATP8B1c.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)
18g.57694598T>CCA402540986ATP8B1c.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
18g.57694598T>GCA402540989ATP8B1c.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)
18g.57694599T>ACA402540992ATP8B1c.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)
18g.57694599T>CCA402540993ATP8B1c.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)
18g.57694599T>GCA402540991ATP8B1c.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)
18g.57694600C>ACA402540997ATP8B1c.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)
18g.57694600C>GCA402540999ATP8B1c.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)
18g.57694600C>TCA402541001ATP8B1c.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)
18g.57694601A>CCA402541003ATP8B1c.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)
18g.57694601A>GCA402541006ATP8B1c.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)
18g.57694601A>TCA402541007ATP8B1c.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)
18g.57694602T>ACA402541010ATP8B1c.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)
18g.57694602T>CCA402541014ATP8B1c.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)
18g.57694602T>GCA402541012ATP8B1c.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)
18g.57694603C>ACA402541017ATP8B1c.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)
18g.57694603C>GCA402541019ATP8B1c.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)
18g.57694603C>TCA504010248ATP8B1c.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=)
18g.57694604A>CCA402541021ATP8B1c.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)
18g.57694604A>GCA402541022ATP8B1c.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)
18g.57694604A>TCA402541023ATP8B1c.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)
18g.57694605A=CA2306111639ATP8B1c.1006T= (p.Leu336=)
c.839T=
c.892T= (p.Leu298=)
c.286T= (p.Leu96=)
n.32-1340A=
c.856T= (p.Leu286=)
18g.57694605A>CCA402541027ATP8B1c.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)
18g.57694605A>GCA504010249ATP8B1c.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
18g.57694605A>TCA402541025ATP8B1c.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)
18g.57694606G>ACA504010250ATP8B1c.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
18g.57694606G>CCA402541029ATP8B1c.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
18g.57694606G=CA2306111640ATP8B1c.1005C= (p.Tyr335=)
c.838C=
c.891C= (p.Tyr297=)
c.285C= (p.Tyr95=)
n.32-1339G=
c.855C= (p.Tyr285=)
18g.57694606G>TCA402541030ATP8B1c.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
18g.57694607T>ACA402541034ATP8B1c.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
18g.57694607T>CCA402541036ATP8B1c.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
18g.57694607T>GCA402541037ATP8B1c.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)
18g.57694608A>CCA402541041ATP8B1c.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)
18g.57694608A>GCA402541097ATP8B1c.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
18g.57694608A>TCA402541100ATP8B1c.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)
18g.57694609A>CCA402541104ATP8B1c.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)
18g.57694609A>GCA504010251ATP8B1c.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=)
18g.57694609A>TCA402541106ATP8B1c.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)
18g.57694610T>ACA402541109ATP8B1c.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)
18g.57694610T>CCA402541111ATP8B1c.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
18g.57694610T>GCA402541113ATP8B1c.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)
18g.57694610T=CA2306111641ATP8B1c.1001A= (p.Asp334=)
c.834A=
c.887A= (p.Asp296=)
c.281A= (p.Asp94=)
n.32-1335T=
c.851A= (p.Asp284=)
18g.57694611C>ACA402541116ATP8B1c.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)
18g.57694611C>GCA402541118ATP8B1c.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)
18g.57694611C>TCA402541119ATP8B1c.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)
18g.57694612A>CCA402541122ATP8B1c.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)
18g.57694612A>GCA504010252ATP8B1c.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=)
18g.57694612A>TCA504010253ATP8B1c.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=)
18g.57694613A>CCA402541124ATP8B1c.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)
18g.57694613A>GCA402541126ATP8B1c.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)
18g.57694613A>TCA402541128ATP8B1c.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)
18g.57694614T>ACA402541130ATP8B1c.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)
18g.57694614T>CCA402541132ATP8B1c.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
18g.57694614T>GCA402541134ATP8B1c.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)
18g.57694614T=CA2306111642ATP8B1c.997A= (p.Ile333=)
c.830A=
c.883A= (p.Ile295=)
c.277A= (p.Ile93=)
n.32-1331T=
c.847A= (p.Ile283=)
18g.57694615T>ACA402541139ATP8B1c.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)
18g.57694615T>CCA504010254ATP8B1c.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=)
18g.57694615T>GCA402541141ATP8B1c.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)
18g.57694616T>ACA402541143ATP8B1c.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)
18g.57694616T>CCA402541145ATP8B1c.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)
18g.57694616T>GCA402541148ATP8B1c.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)
18g.57694617T>ACA402541151ATP8B1c.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)
18g.57694617T>CCA402541154ATP8B1c.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
18g.57694617T>GCA402541157ATP8B1c.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)
18g.57694618A>CCA504010255ATP8B1c.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=)
18g.57694618A>GCA504010256ATP8B1c.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
18g.57694618A>TCA504010257ATP8B1c.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=)
18g.57694619G>ACA402541162ATP8B1c.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)
18g.57694619G>CCA402541169ATP8B1c.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)
18g.57694619G>TCA402541165ATP8B1c.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)
18g.57694620T>ACA402541172ATP8B1c.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)
18g.57694620T>CCA402541175ATP8B1c.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
18g.57694620T>GCA402541177ATP8B1c.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)
18g.57694620T=CA2306111643ATP8B1c.991A= (p.Thr331=)
c.824A=
c.877A= (p.Thr293=)
c.271A= (p.Thr91=)
n.32-1325T=
c.841A= (p.Thr281=)
18g.57694621T>ACA402541181ATP8B1c.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
18g.57694621T>CCA504010258ATP8B1c.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
18g.57694621T>GCA402541185ATP8B1c.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)
18g.57694621T=CA2306111644ATP8B1c.990A= (p.Arg330=)
c.823A=
c.876A= (p.Arg292=)
c.270A= (p.Arg90=)
n.32-1324T=
c.840A= (p.Arg280=)
18g.57694622C>ACA300861369ATP8B1c.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
18g.57694622C=CA2306111645ATP8B1c.989G= (p.Arg330=)
c.822G=
c.875G= (p.Arg292=)
c.269G= (p.Arg90=)
n.32-1323C=
c.839G= (p.Arg280=)
18g.57694622C>GCA402541192ATP8B1c.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)
18g.57694622C>TCA402541196ATP8B1c.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
18g.57694623T>ACA402541201ATP8B1c.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)
18g.57694623T>CCA402541203ATP8B1c.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
18g.57694623T>GCA504010259ATP8B1c.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=)
18g.57694626delCA2641954717ATP8B1c.988del (p.Arg330GlufsTer7)
c.821del
c.874del (p.Arg292GlufsTer7)
c.268del (p.Arg90GlufsTer7)
n.32-1319del
c.838del (p.Arg280GlufsTer7)
 gnomAD v4
18g.57694624T>ACA402541206ATP8B1c.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)
18g.57694624T>CCA504010260ATP8B1c.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=)
18g.57694624T>GCA402541208ATP8B1c.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)
18g.57694625T>ACA402541216ATP8B1c.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)
18g.57694625T>CCA402541229ATP8B1c.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)
18g.57694625T>GCA402541213ATP8B1c.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)
18g.57694626T>ACA402541233ATP8B1c.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
18g.57694626T>CCA402541235ATP8B1c.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)
18g.57694626T>GCA402541238ATP8B1c.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)
18g.57694627A>CCA402541243ATP8B1c.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)
18g.57694627A>GCA504010261ATP8B1c.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=)
18g.57694627A>TCA402541247ATP8B1c.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)
18g.57694628A=CA2306111646ATP8B1c.983T= (p.Phe328=)
c.816T=
c.869T= (p.Phe290=)
c.263T= (p.Phe88=)
n.32-1317A=
c.833T= (p.Phe278=)
18g.57694628A>CCA402541256ATP8B1c.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)
18g.57694628A>GCA402541250ATP8B1c.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
18g.57694628A>TCA402541254ATP8B1c.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)
18g.57694629A>CCA402541261ATP8B1c.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)
18g.57694629A>GCA402541262ATP8B1c.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
18g.57694629A>TCA402541266ATP8B1c.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)
18g.57694630T>ACA402541268ATP8B1c.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)
18g.57694630T>CCA504010262ATP8B1c.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=)
18g.57694630T>GCA402541273ATP8B1c.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)
18g.57694631C>ACA402541285ATP8B1c.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)
18g.57694631C>GCA402541277ATP8B1c.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)
18g.57694631C>TCA402541282ATP8B1c.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)
18g.57694632T>ACA402541291ATP8B1c.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)
18g.57694632T>CCA402541292ATP8B1c.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)
18g.57694632T>GCA504010263ATP8B1c.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=)
18g.57694633G>ACA504010264ATP8B1c.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
18g.57694633G>CCA504010265ATP8B1c.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=)
18g.57694633G>TCA504010266ATP8B1c.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=)
18g.57694634G>ACA402541295ATP8B1c.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
18g.57694634G>CCA402541298ATP8B1c.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)
18g.57694634G=CA2306111647ATP8B1c.977C= (p.Thr326=)
c.810C=
c.863C= (p.Thr288=)
c.257C= (p.Thr86=)
n.32-1311G=
c.827C= (p.Thr276=)
18g.57694634G>TCA402541301ATP8B1c.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
18g.57694635T>ACA402541307ATP8B1c.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)
18g.57694635T>CCA8974682ATP8B1c.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
18g.57694635T>GCA402541313ATP8B1c.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)
18g.57694635T=CA2306111648ATP8B1c.976A= (p.Thr326=)
c.809A=
c.862A= (p.Thr288=)
c.256A= (p.Thr86=)
n.32-1310T=
c.826A= (p.Thr276=)
18g.57694636T>ACA402541322ATP8B1c.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)
18g.57694636T>CCA504010267ATP8B1c.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=)
18g.57694636T>GCA402541319ATP8B1c.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
18g.57694637T>ACA402541325ATP8B1c.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)
18g.57694637T>CCA402541328ATP8B1c.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)
18g.57694637T>GCA402541332ATP8B1c.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)
18g.57694638T>ACA402541335ATP8B1c.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)
18g.57694638T>CCA300861375ATP8B1c.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
18g.57694638T>GCA402541341ATP8B1c.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)
18g.57694638T=CA2306111649ATP8B1c.973A= (p.Lys325=)
c.806A=
c.859A= (p.Lys287=)
c.253A= (p.Lys85=)
n.32-1307T=
c.823A= (p.Lys275=)
18g.57694639C>ACA504010268ATP8B1c.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=)
18g.57694639C>GCA504010269ATP8B1c.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=)
18g.57694639C>TCA504010270ATP8B1c.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
18g.57694640C>ACA402541351ATP8B1c.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)
18g.57694640C>GCA402541345ATP8B1c.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)
18g.57694640C>TCA402541348ATP8B1c.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
18g.57694641C>ACA402541355ATP8B1c.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)
18g.57694641C>GCA402541359ATP8B1c.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)
18g.57694641C>TCA402541362ATP8B1c.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)
18g.57694642A=CA2306111650ATP8B1c.969T= (p.Ser323=)
c.802T=
c.855T= (p.Ser285=)
c.249T= (p.Ser83=)
n.32-1303A=
c.819T= (p.Ser273=)
18g.57694642A>CCA402541366ATP8B1c.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)
18g.57694642A>GCA504010271ATP8B1c.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
18g.57694642A>TCA402541369ATP8B1c.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)
18g.57694643C>ACA402541374ATP8B1c.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)
18g.57694643C=CA2306111651ATP8B1c.968G= (p.Ser323=)
c.801G=
c.854G= (p.Ser285=)
c.248G= (p.Ser83=)
n.32-1302C=
c.818G= (p.Ser273=)
18g.57694643C>GCA402541376ATP8B1c.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
18g.57694643C>TCA8974683ATP8B1c.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
18g.57694644T>ACA402541382ATP8B1c.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)
18g.57694644T>CCA402541384ATP8B1c.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)
18g.57694644T>GCA402541387ATP8B1c.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)
18g.57694645_57694646delCA2735086230ATP8B1c.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
18g.57694648_57694657delCA2695227607ATP8B1c.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)
18g.57694645A=CA2306111652ATP8B1c.966T= (p.Asn322=)
c.799T=
c.852T= (p.Asn284=)
c.246T= (p.Asn82=)
n.32-1300A=
c.816T= (p.Asn272=)
18g.57694645A>CCA402541392ATP8B1c.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)
18g.57694645A>GCA300861381ATP8B1c.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
18g.57694645A>TCA402541398ATP8B1c.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)
18g.57694646T>ACA402541408ATP8B1c.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)
18g.57694646T>CCA8974684ATP8B1c.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
18g.57694646T>GCA402541404ATP8B1c.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)
18g.57694646T=CA2306111653ATP8B1c.965A= (p.Asn322=)
c.798A=
c.851A= (p.Asn284=)
c.245A= (p.Asn82=)
n.32-1299T=
c.815A= (p.Asn272=)
18g.57694649_57694651delCA2576512569ATP8B1c.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)
18g.57694647T>ACA402541425ATP8B1c.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)
18g.57694647T>CCA402541427ATP8B1c.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)
18g.57694647T>GCA402541431ATP8B1c.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)
18g.57694648C>ACA402541436ATP8B1c.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)
18g.57694648C>GCA402541438ATP8B1c.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
18g.57694648C>TCA504010272ATP8B1c.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=)
18g.57694649T>ACA402541455ATP8B1c.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)
18g.57694649T>CCA402541454ATP8B1c.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
18g.57694649T>GCA402541452ATP8B1c.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)
18g.57694650T>ACA402541456ATP8B1c.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)
18g.57694650T>CCA402541458ATP8B1c.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)
18g.57694650T>GCA402541459ATP8B1c.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)
18g.57694651C>ACA402541461ATP8B1c.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)
18g.57694651C>GCA402541463ATP8B1c.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)
18g.57694651C>TCA402541465ATP8B1c.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)
18g.57694652A=CA2306111654ATP8B1c.959T= (p.Met320=)
c.792T=
c.845T= (p.Met282=)
c.239T= (p.Met80=)
n.32-1293A=
c.809T= (p.Met270=)
18g.57694652A>CCA402541481ATP8B1c.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)
18g.57694652A>GCA402541471ATP8B1c.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
18g.57694652A>TCA402541479ATP8B1c.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
18g.57694653T>ACA402541484ATP8B1c.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)
18g.57694653T>CCA402541489ATP8B1c.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)
18g.57694653T>GCA402541492ATP8B1c.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)
18g.57694654delCA2641954718ATP8B1c.958del (p.Met320Ter)
c.791del
c.844del (p.Met282Ter)
c.238del (p.Met80Ter)
n.32-1291del
c.808del (p.Met270Ter)
 gnomAD v4
18g.57694654T>ACA504010273ATP8B1c.957A>T (p.Ile319=)
c.790A>T
c.843A>T (p.Ile281=)
c.237A>T (p.Ile79=)
n.32-1291T>A
c.807A>T (p.Ile269=)
18g.57694654T>CCA402541497ATP8B1c.957A>G (p.Ile319Met)
c.790A>G
c.843A>G (p.Ile281Met)
c.237A>G (p.Ile79Met)
n.32-1291T>C
c.807A>G (p.Ile269Met)
18g.57694654T>GCA504010274ATP8B1c.957A>C (p.Ile319=)
c.790A>C
c.843A>C (p.Ile281=)
c.237A>C (p.Ile79=)
n.32-1291T>G
c.807A>C (p.Ile269=)
 COSMIC
18g.57694655A>CCA402541500ATP8B1c.956T>G (p.Ile319Arg)
c.789T>G
c.842T>G (p.Ile281Arg)
c.236T>G (p.Ile79Arg)
n.32-1290A>C
c.806T>G (p.Ile269Arg)
18g.57694655A>GCA402541502ATP8B1c.956T>C (p.Ile319Thr)
c.789T>C
c.842T>C (p.Ile281Thr)
c.236T>C (p.Ile79Thr)
n.32-1290A>G
c.806T>C (p.Ile269Thr)
18g.57694655A>TCA402541506ATP8B1c.956T>A (p.Ile319Lys)
c.789T>A
c.842T>A (p.Ile281Lys)
c.236T>A (p.Ile79Lys)
n.32-1290A>T
c.806T>A (p.Ile269Lys)
18g.57694656T>ACA402541508ATP8B1c.955A>T (p.Ile319Leu)
c.788A>T
c.841A>T (p.Ile281Leu)
c.235A>T (p.Ile79Leu)
n.32-1289T>A
c.805A>T (p.Ile269Leu)
18g.57694656T>CCA402541510ATP8B1c.955A>G (p.Ile319Val)
c.788A>G
c.841A>G (p.Ile281Val)
c.235A>G (p.Ile79Val)
n.32-1289T>C
c.805A>G (p.Ile269Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57694656T>GCA402541512ATP8B1c.955A>C (p.Ile319Leu)
c.788A>C
c.841A>C (p.Ile281Leu)
c.235A>C (p.Ile79Leu)
n.32-1289T>G
c.805A>C (p.Ile269Leu)
18g.57694656T=CA2306111655ATP8B1c.955A= (p.Ile319=)
c.788A=
c.841A= (p.Ile281=)
c.235A= (p.Ile79=)
n.32-1289T=
c.805A= (p.Ile269=)
18g.57694659delCA2641954719ATP8B1c.955del (p.Ile319Ter)
c.788del
c.841del (p.Ile281Ter)
c.235del (p.Ile79Ter)
n.32-1286del
c.805del (p.Ile269Ter)
 gnomAD v4
18g.57694657T>ACA402541516ATP8B1c.954A>T (p.Lys318Asn)
c.787A>T
c.840A>T (p.Lys280Asn)
c.234A>T (p.Lys78Asn)
n.32-1288T>A
c.804A>T (p.Lys268Asn)
18g.57694657T>CCA504010275ATP8B1c.954A>G (p.Lys318=)
c.787A>G
c.840A>G (p.Lys280=)
c.234A>G (p.Lys78=)
n.32-1288T>C
c.804A>G (p.Lys268=)
18g.57694657T>GCA402541519ATP8B1c.954A>C (p.Lys318Asn)
c.787A>C
c.840A>C (p.Lys280Asn)
c.234A>C (p.Lys78Asn)
n.32-1288T>G
c.804A>C (p.Lys268Asn)
18g.57694658T>ACA402541520ATP8B1c.953A>T (p.Lys318Ile)
c.786A>T
c.839A>T (p.Lys280Ile)
c.233A>T (p.Lys78Ile)
n.32-1287T>A
c.803A>T (p.Lys268Ile)
18g.57694658T>CCA402541524ATP8B1c.953A>G (p.Lys318Arg)
c.786A>G
c.839A>G (p.Lys280Arg)
c.233A>G (p.Lys78Arg)
n.32-1287T>C
c.803A>G (p.Lys268Arg)
18g.57694658T>GCA402541521ATP8B1c.953A>C (p.Lys318Thr)
c.786A>C
c.839A>C (p.Lys280Thr)
c.233A>C (p.Lys78Thr)
n.32-1287T>G
c.803A>C (p.Lys268Thr)
18g.57694659T>ACA402541528ATP8B1c.952A>T (p.Lys318Ter)
c.785A>T
c.838A>T (p.Lys280Ter)
c.232A>T (p.Lys78Ter)
n.32-1286T>A
c.802A>T (p.Lys268Ter)
18g.57694659T>CCA402541531ATP8B1c.952A>G (p.Lys318Glu)
c.785A>G
c.838A>G (p.Lys280Glu)
c.232A>G (p.Lys78Glu)
n.32-1286T>C
c.802A>G (p.Lys268Glu)
18g.57694659T>GCA8974685ATP8B1c.952A>C (p.Lys318Gln)
c.785A>C
c.838A>C (p.Lys280Gln)
c.232A>C (p.Lys78Gln)
n.32-1286T>G
c.802A>C (p.Lys268Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57694659T=CA2306111656ATP8B1c.952A= (p.Lys318=)
c.785A=
c.838A= (p.Lys280=)
c.232A= (p.Lys78=)
n.32-1286T=
c.802A= (p.Lys268=)
18g.57694660A=CA2306111657ATP8B1c.951T= (p.Thr317=)
c.784T=
c.837T= (p.Thr279=)
c.231T= (p.Thr77=)
n.32-1285A=
c.801T= (p.Thr267=)
18g.57694660A>CCA504010276ATP8B1c.951T>G (p.Thr317=)
c.784T>G
c.837T>G (p.Thr279=)
c.231T>G (p.Thr77=)
n.32-1285A>C
c.801T>G (p.Thr267=)
18g.57694660A>GCA504010277ATP8B1c.951T>C (p.Thr317=)
c.784T>C
c.837T>C (p.Thr279=)
c.231T>C (p.Thr77=)
n.32-1285A>G
c.801T>C (p.Thr267=)
 dbSNP gnomAD v3 gnomAD v4
18g.57694660A>TCA504010278ATP8B1c.951T>A (p.Thr317=)
c.784T>A
c.837T>A (p.Thr279=)
c.231T>A (p.Thr77=)
n.32-1285A>T
c.801T>A (p.Thr267=)
18g.57694661G>ACA402541533ATP8B1c.950C>T (p.Thr317Ile)
c.783C>T
c.836C>T (p.Thr279Ile)
c.230C>T (p.Thr77Ile)
n.32-1284G>A
c.800C>T (p.Thr267Ile)
18g.57694661G>CCA402541534ATP8B1c.950C>G (p.Thr317Ser)
c.783C>G
c.836C>G (p.Thr279Ser)
c.230C>G (p.Thr77Ser)
n.32-1284G>C
c.800C>G (p.Thr267Ser)
18g.57694661G>TCA402541536ATP8B1c.950C>A (p.Thr317Asn)
c.783C>A
c.836C>A (p.Thr279Asn)
c.230C>A (p.Thr77Asn)
n.32-1284G>T
c.800C>A (p.Thr267Asn)
 COSMIC
18g.57694662T>ACA402541540ATP8B1c.949A>T (p.Thr317Ser)
c.782A>T
c.835A>T (p.Thr279Ser)
c.229A>T (p.Thr77Ser)
n.32-1283T>A
c.799A>T (p.Thr267Ser)
18g.57694662T>CCA402541544ATP8B1c.949A>G (p.Thr317Ala)
c.782A>G
c.835A>G (p.Thr279Ala)
c.229A>G (p.Thr77Ala)
n.32-1283T>C
c.799A>G (p.Thr267Ala)
18g.57694662T>GCA402541553ATP8B1c.949A>C (p.Thr317Pro)
c.782A>C
c.835A>C (p.Thr279Pro)
c.229A>C (p.Thr77Pro)
n.32-1283T>G
c.799A>C (p.Thr267Pro)
18g.57694663G>ACA504010279ATP8B1c.948C>T (p.Asp316=)
c.781C>T
c.834C>T (p.Asp278=)
c.228C>T (p.Asp76=)
n.32-1282G>A
c.798C>T (p.Asp266=)
18g.57694663G>CCA402541558ATP8B1c.948C>G (p.Asp316Glu)
c.781C>G
c.834C>G (p.Asp278Glu)
c.228C>G (p.Asp76Glu)
n.32-1282G>C
c.798C>G (p.Asp266Glu)
18g.57694663G>TCA402541560ATP8B1c.948C>A (p.Asp316Glu)
c.781C>A
c.834C>A (p.Asp278Glu)
c.228C>A (p.Asp76Glu)
n.32-1282G>T
c.798C>A (p.Asp266Glu)
 gnomAD v4
18g.57694664T>ACA402541564ATP8B1c.947A>T (p.Asp316Val)
c.780A>T
c.833A>T (p.Asp278Val)
c.227A>T (p.Asp76Val)
n.32-1281T>A
c.797A>T (p.Asp266Val)
18g.57694664T>CCA402541567ATP8B1c.947A>G (p.Asp316Gly)
c.780A>G
c.833A>G (p.Asp278Gly)
c.227A>G (p.Asp76Gly)
n.32-1281T>C
c.797A>G (p.Asp266Gly)
18g.57694664T>GCA402541568ATP8B1c.947A>C (p.Asp316Ala)
c.780A>C
c.833A>C (p.Asp278Ala)
c.227A>C (p.Asp76Ala)
n.32-1281T>G
c.797A>C (p.Asp266Ala)
18g.57694665C>ACA402541575ATP8B1c.946G>T (p.Asp316Tyr)
c.779G>T
c.832G>T (p.Asp278Tyr)
c.226G>T (p.Asp76Tyr)
n.32-1280C>A
c.796G>T (p.Asp266Tyr)
 gnomAD v4
18g.57694665C>GCA402541573ATP8B1c.946G>C (p.Asp316His)
c.779G>C
c.832G>C (p.Asp278His)
c.226G>C (p.Asp76His)
n.32-1280C>G
c.796G>C (p.Asp266His)
18g.57694665C>TCA402541572ATP8B1c.946G>A (p.Asp316Asn)
c.779G>A
c.832G>A (p.Asp278Asn)
c.226G>A (p.Asp76Asn)
n.32-1280C>T
c.796G>A (p.Asp266Asn)
18g.57694666A>CCA504010280ATP8B1c.945T>G (p.Ala315=)
c.778T>G
c.831T>G (p.Ala277=)
c.225T>G (p.Ala75=)
n.32-1279A>C
c.795T>G (p.Ala265=)
 gnomAD v4
18g.57694666A>GCA504010281ATP8B1c.945T>C (p.Ala315=)
c.778T>C
c.831T>C (p.Ala277=)
c.225T>C (p.Ala75=)
n.32-1279A>G
c.795T>C (p.Ala265=)
18g.57694666A>TCA504010282ATP8B1c.945T>A (p.Ala315=)
c.778T>A
c.831T>A (p.Ala277=)
c.225T>A (p.Ala75=)
n.32-1279A>T
c.795T>A (p.Ala265=)
18g.57694667G>ACA402541579ATP8B1c.944C>T (p.Ala315Val)
c.777C>T
c.830C>T (p.Ala277Val)
c.224C>T (p.Ala75Val)
n.32-1278G>A
c.794C>T (p.Ala265Val)
18g.57694667G>CCA402541581ATP8B1c.944C>G (p.Ala315Gly)
c.777C>G
c.830C>G (p.Ala277Gly)
c.224C>G (p.Ala75Gly)
n.32-1278G>C
c.794C>G (p.Ala265Gly)
18g.57694667G>TCA402541584ATP8B1c.944C>A (p.Ala315Asp)
c.777C>A
c.830C>A (p.Ala277Asp)
c.224C>A (p.Ala75Asp)
n.32-1278G>T
c.794C>A (p.Ala265Asp)
 gnomAD v4
18g.57694668C>ACA402541588ATP8B1c.943G>T (p.Ala315Ser)
c.776G>T
c.829G>T (p.Ala277Ser)
c.223G>T (p.Ala75Ser)
n.32-1277C>A
c.793G>T (p.Ala265Ser)
18g.57694668C>GCA402541595ATP8B1c.943G>C (p.Ala315Pro)
c.776G>C
c.829G>C (p.Ala277Pro)
c.223G>C (p.Ala75Pro)
n.32-1277C>G
c.793G>C (p.Ala265Pro)
18g.57694668C>TCA402541596ATP8B1c.943G>A (p.Ala315Thr)
c.776G>A
c.829G>A (p.Ala277Thr)
c.223G>A (p.Ala75Thr)
n.32-1277C>T
c.793G>A (p.Ala265Thr)
18g.57694669A>CCA504010283ATP8B1c.942T>G (p.Gly314=)
c.775T>G
c.828T>G (p.Gly276=)
c.222T>G (p.Gly74=)
n.32-1276A>C
c.792T>G (p.Gly264=)
18g.57694669A>GCA504010284ATP8B1c.942T>C (p.Gly314=)
c.775T>C
c.828T>C (p.Gly276=)
c.222T>C (p.Gly74=)
n.32-1276A>G
c.792T>C (p.Gly264=)
18g.57694669A>TCA504010285ATP8B1c.942T>A (p.Gly314=)
c.775T>A
c.828T>A (p.Gly276=)
c.222T>A (p.Gly74=)
n.32-1276A>T
c.792T>A (p.Gly264=)
18g.57694670C>ACA402541599ATP8B1c.941G>T (p.Gly314Val)
c.774G>T
c.827G>T (p.Gly276Val)
c.221G>T (p.Gly74Val)
n.32-1275C>A
c.791G>T (p.Gly264Val)
18g.57694670C>GCA402541601ATP8B1c.941G>C (p.Gly314Ala)
c.774G>C
c.827G>C (p.Gly276Ala)
c.221G>C (p.Gly74Ala)
n.32-1275C>G
c.791G>C (p.Gly264Ala)
18g.57694670C>TCA402541604ATP8B1c.941G>A (p.Gly314Asp)
c.774G>A
c.827G>A (p.Gly276Asp)
c.221G>A (p.Gly74Asp)
n.32-1275C>T
c.791G>A (p.Gly264Asp)
18g.57694671C>ACA402541609ATP8B1c.941-1G>T (n.941-1G>T)
c.774-1G>T
c.827-1G>T (n.827-1G>T)
c.221-1G>T (n.221-1G>T)
n.32-1274C>A
c.791-1G>T (n.791-1G>T)
18g.57694671C>GCA402541613ATP8B1c.941-1G>C (n.941-1G>C)
c.774-1G>C
c.827-1G>C (n.827-1G>C)
c.221-1G>C (n.221-1G>C)
n.32-1274C>G
c.791-1G>C (n.791-1G>C)
 gnomAD v4
18g.57694671C>TCA402541614ATP8B1c.941-1G>A (n.941-1G>A)
c.774-1G>A
c.827-1G>A (n.827-1G>A)
c.221-1G>A (n.221-1G>A)
n.32-1274C>T
c.791-1G>A (n.791-1G>A)
 gnomAD v4
18g.57694672T>ACA402541621ATP8B1c.941-2A>T (n.941-2A>T)
c.774-2A>T
c.827-2A>T (n.827-2A>T)
c.221-2A>T (n.221-2A>T)
n.32-1273T>A
c.791-2A>T (n.791-2A>T)
18g.57694672T>CCA402541618ATP8B1c.941-2A>G (n.941-2A>G)
c.774-2A>G
c.827-2A>G (n.827-2A>G)
c.221-2A>G (n.221-2A>G)
n.32-1273T>C
c.791-2A>G (n.791-2A>G)
 gnomAD v4
18g.57694672T>GCA402541617ATP8B1c.941-2A>C (n.941-2A>C)
c.774-2A>C
c.827-2A>C (n.827-2A>C)
c.221-2A>C (n.221-2A>C)
n.32-1273T>G
c.791-2A>C (n.791-2A>C)
18g.57694673G>TCA2641954720ATP8B1c.941-3C>A (n.941-3C>A)
c.774-3C>A
c.827-3C>A (n.827-3C>A)
c.221-3C>A (n.221-3C>A)
n.32-1272G>T
c.791-3C>A (n.791-3C>A)
 gnomAD v4
18g.57694674A>CCA2735086234ATP8B1c.941-4T>G (n.941-4T>G)
c.774-4T>G
c.827-4T>G (n.827-4T>G)
c.221-4T>G (n.221-4T>G)
n.32-1271A>C
c.791-4T>G (n.791-4T>G)
 dbSNP
18g.57694678T>CCA630042749ATP8B1c.941-8A>G (n.941-8A>G)
c.774-8A>G
c.827-8A>G (n.827-8A>G)
c.221-8A>G (n.221-8A>G)
n.32-1267T>C
c.791-8A>G (n.791-8A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.57694678T=CA2306111658ATP8B1c.941-8A= (n.941-8A=)
c.774-8A=
c.827-8A= (n.827-8A=)
c.221-8A= (n.221-8A=)
n.32-1267T=
c.791-8A= (n.791-8A=)
18g.57694680G=CA2306111659ATP8B1c.941-10C= (n.941-10C=)
c.774-10C=
c.827-10C= (n.827-10C=)
c.221-10C= (n.221-10C=)
n.32-1265G=
c.791-10C= (n.791-10C=)
18g.57694680G>TCA2641954721ATP8B1c.941-10C>A (n.941-10C>A)
c.774-10C>A
c.827-10C>A (n.827-10C>A)
c.221-10C>A (n.221-10C>A)
n.32-1265G>T
c.791-10C>A (n.791-10C>A)
 gnomAD v4
18g.57694684dupCA8974686ATP8B1c.941-11dup (n.941-11dup)
c.774-11dup
c.827-11dup (n.827-11dup)
c.221-11dup (n.221-11dup)
n.32-1261dup
c.791-11dup (n.791-11dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.57694685T>ACA2641954722ATP8B1c.941-15A>T (n.941-15A>T)
c.774-15A>T
c.827-15A>T (n.827-15A>T)
c.221-15A>T (n.221-15A>T)
n.32-1260T>A
c.791-15A>T (n.791-15A>T)
 gnomAD v4
18g.57694685T>CCA2641954723ATP8B1c.941-15A>G (n.941-15A>G)
c.774-15A>G
c.827-15A>G (n.827-15A>G)
c.221-15A>G (n.221-15A>G)
n.32-1260T>C
c.791-15A>G (n.791-15A>G)
 gnomAD v4
18g.57694686T>CCA300861387ATP8B1c.941-16A>G (n.941-16A>G)
c.774-16A>G
c.827-16A>G (n.827-16A>G)
c.221-16A>G (n.221-16A>G)
n.32-1259T>C
c.791-16A>G (n.791-16A>G)
 dbSNP
18g.57694686T=CA2306111660ATP8B1c.941-16A= (n.941-16A=)
c.774-16A=
c.827-16A= (n.827-16A=)
c.221-16A= (n.221-16A=)
n.32-1259T=
c.791-16A= (n.791-16A=)
18g.57694688A>GCA2564150933ATP8B1c.941-18T>C (n.941-18T>C)
c.774-18T>C
c.827-18T>C (n.827-18T>C)
c.221-18T>C (n.221-18T>C)
n.32-1257A>G
c.791-18T>C (n.791-18T>C)
 gnomAD v4
18g.57694689A=CA2306111661ATP8B1c.941-19T= (n.941-19T=)
c.774-19T=
c.827-19T= (n.827-19T=)
c.221-19T= (n.221-19T=)
n.32-1256A=
c.791-19T= (n.791-19T=)
18g.57694689A>GCA300861389ATP8B1c.941-19T>C (n.941-19T>C)
c.774-19T>C
c.827-19T>C (n.827-19T>C)
c.221-19T>C (n.221-19T>C)
n.32-1256A>G
c.791-19T>C (n.791-19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57694689A>TCA2576512570ATP8B1c.941-19T>A (n.941-19T>A)
c.774-19T>A
c.827-19T>A (n.827-19T>A)
c.221-19T>A (n.221-19T>A)
n.32-1256A>T
c.791-19T>A (n.791-19T>A)
18g.57694690T>CCA630042763ATP8B1c.941-20A>G (n.941-20A>G)
c.774-20A>G
c.827-20A>G (n.827-20A>G)
c.221-20A>G (n.221-20A>G)
n.32-1255T>C
c.791-20A>G (n.791-20A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57694690T>GCA2641954724ATP8B1c.941-20A>C (n.941-20A>C)
c.774-20A>C
c.827-20A>C (n.827-20A>C)
c.221-20A>C (n.221-20A>C)
n.32-1255T>G
c.791-20A>C (n.791-20A>C)
 gnomAD v4
18g.57694690T=CA2306111662ATP8B1c.941-20A= (n.941-20A=)
c.774-20A=
c.827-20A= (n.827-20A=)
c.221-20A= (n.221-20A=)
n.32-1255T=
c.791-20A= (n.791-20A=)
18g.57694691G>CCA990685221ATP8B1c.941-21C>G (n.941-21C>G)
c.774-21C>G
c.827-21C>G (n.827-21C>G)
c.221-21C>G (n.221-21C>G)
n.32-1254G>C
c.791-21C>G (n.791-21C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.57694691G=CA2306111663ATP8B1c.941-21C= (n.941-21C=)
c.774-21C=
c.827-21C= (n.827-21C=)
c.221-21C= (n.221-21C=)
n.32-1254G=
c.791-21C= (n.791-21C=)
18g.57694691G>TCA2576512571ATP8B1c.941-21C>A (n.941-21C>A)
c.774-21C>A
c.827-21C>A (n.827-21C>A)
c.221-21C>A (n.221-21C>A)
n.32-1254G>T
c.791-21C>A (n.791-21C>A)
 gnomAD v4
18g.57694692T>ACA990685225ATP8B1c.941-22A>T (n.941-22A>T)
c.774-22A>T
c.827-22A>T (n.827-22A>T)
c.221-22A>T (n.221-22A>T)
n.32-1253T>A
c.791-22A>T (n.791-22A>T)
 dbSNP gnomAD v3 gnomAD v4
18g.57694692T>CCA780817583ATP8B1c.941-22A>G (n.941-22A>G)
c.774-22A>G
c.827-22A>G (n.827-22A>G)
c.221-22A>G (n.221-22A>G)
n.32-1253T>C
c.791-22A>G (n.791-22A>G)
 dbSNP
18g.57694692T=CA2306111664ATP8B1c.941-22A= (n.941-22A=)
c.774-22A=
c.827-22A= (n.827-22A=)
c.221-22A= (n.221-22A=)
n.32-1253T=
c.791-22A= (n.791-22A=)
18g.57694693A>CCA2641954725ATP8B1c.941-23T>G (n.941-23T>G)
c.774-23T>G
c.827-23T>G (n.827-23T>G)
c.221-23T>G (n.221-23T>G)
n.32-1252A>C
c.791-23T>G (n.791-23T>G)
 gnomAD v4
18g.57694694G>TCA2641954726ATP8B1c.941-24C>A (n.941-24C>A)
c.774-24C>A
c.827-24C>A (n.827-24C>A)
c.221-24C>A (n.221-24C>A)
n.32-1251G>T
c.791-24C>A (n.791-24C>A)
 gnomAD v4
18g.57694695T>CCA2641954727ATP8B1c.941-25A>G (n.941-25A>G)
c.774-25A>G
c.827-25A>G (n.827-25A>G)
c.221-25A>G (n.221-25A>G)
n.32-1250T>C
c.791-25A>G (n.791-25A>G)
 gnomAD v4
18g.57694696C>ACA2641954728ATP8B1c.941-26G>T (n.941-26G>T)
c.774-26G>T
c.827-26G>T (n.827-26G>T)
c.221-26G>T (n.221-26G>T)
n.32-1249C>A
c.791-26G>T (n.791-26G>T)
 gnomAD v4
18g.57694697A>GCA2641954729ATP8B1c.941-27T>C (n.941-27T>C)
c.774-27T>C
c.827-27T>C (n.827-27T>C)
c.221-27T>C (n.221-27T>C)
n.32-1248A>G
c.791-27T>C (n.791-27T>C)
 gnomAD v4

Number of alleles fetched