Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.10375498C>ACA351784350ATP2B2c.1213G>T (p.Val405Leu)
c.1315G>T (p.Val439Leu)
c.1348G>T (p.Val450Leu)
c.1255G>T (p.Val419Leu)
c.607G>T (p.Val203Leu)
c.916G>T (p.Val306Leu)
c.280G>T (p.Val94Leu)
3g.10375498C>GCA351784352ATP2B2c.1213G>C (p.Val405Leu)
c.1315G>C (p.Val439Leu)
c.1348G>C (p.Val450Leu)
c.1255G>C (p.Val419Leu)
c.607G>C (p.Val203Leu)
c.916G>C (p.Val306Leu)
c.280G>C (p.Val94Leu)
 ClinVar dbSNP
3g.10375498C>TCA351784353ATP2B2c.1213G>A (p.Val405Met)
c.1315G>A (p.Val439Met)
c.1348G>A (p.Val450Met)
c.1255G>A (p.Val419Met)
c.607G>A (p.Val203Met)
c.916G>A (p.Val306Met)
c.280G>A (p.Val94Met)
3g.10375499C>ACA432441135ATP2B2c.1212G>T (p.Thr404=)
c.1314G>T (p.Thr438=)
c.1347G>T (p.Thr449=)
c.1254G>T (p.Thr418=)
c.606G>T (p.Thr202=)
c.915G>T (p.Thr305=)
c.279G>T (p.Thr93=)
 COSMIC COSMIC
3g.10375499C=CA1345182380ATP2B2c.1212G= (p.Thr404=)
c.1314G= (p.Thr438=)
c.1347G= (p.Thr449=)
c.1254G= (p.Thr418=)
c.606G= (p.Thr202=)
c.915G= (p.Thr305=)
c.279G= (p.Thr93=)
3g.10375499C>GCA432441136ATP2B2c.1212G>C (p.Thr404=)
c.1314G>C (p.Thr438=)
c.1347G>C (p.Thr449=)
c.1254G>C (p.Thr418=)
c.606G>C (p.Thr202=)
c.915G>C (p.Thr305=)
c.279G>C (p.Thr93=)
3g.10375499C>TCA2253690ATP2B2c.1212G>A (p.Thr404=)
c.1314G>A (p.Thr438=)
c.1347G>A (p.Thr449=)
c.1254G>A (p.Thr418=)
c.606G>A (p.Thr202=)
c.915G>A (p.Thr305=)
c.279G>A (p.Thr93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375500G>ACA351784358ATP2B2c.1211C>T (p.Thr404Met)
c.1313C>T (p.Thr438Met)
c.1346C>T (p.Thr449Met)
c.1253C>T (p.Thr418Met)
c.605C>T (p.Thr202Met)
c.914C>T (p.Thr305Met)
c.278C>T (p.Thr93Met)
 gnomAD v4
3g.10375500G>CCA351784357ATP2B2c.1211C>G (p.Thr404Arg)
c.1313C>G (p.Thr438Arg)
c.1346C>G (p.Thr449Arg)
c.1253C>G (p.Thr418Arg)
c.605C>G (p.Thr202Arg)
c.914C>G (p.Thr305Arg)
c.278C>G (p.Thr93Arg)
3g.10375500G>TCA351784355ATP2B2c.1211C>A (p.Thr404Lys)
c.1313C>A (p.Thr438Lys)
c.1346C>A (p.Thr449Lys)
c.1253C>A (p.Thr418Lys)
c.605C>A (p.Thr202Lys)
c.914C>A (p.Thr305Lys)
c.278C>A (p.Thr93Lys)
3g.10375501T>ACA351784359ATP2B2c.1210A>T (p.Thr404Ser)
c.1312A>T (p.Thr438Ser)
c.1345A>T (p.Thr449Ser)
c.1252A>T (p.Thr418Ser)
c.604A>T (p.Thr202Ser)
c.913A>T (p.Thr305Ser)
c.277A>T (p.Thr93Ser)
3g.10375501T>CCA351784360ATP2B2c.1210A>G (p.Thr404Ala)
c.1312A>G (p.Thr438Ala)
c.1345A>G (p.Thr449Ala)
c.1252A>G (p.Thr418Ala)
c.604A>G (p.Thr202Ala)
c.913A>G (p.Thr305Ala)
c.277A>G (p.Thr93Ala)
3g.10375501T>GCA351784361ATP2B2c.1210A>C (p.Thr404Pro)
c.1312A>C (p.Thr438Pro)
c.1345A>C (p.Thr449Pro)
c.1252A>C (p.Thr418Pro)
c.604A>C (p.Thr202Pro)
c.913A>C (p.Thr305Pro)
c.277A>C (p.Thr93Pro)
3g.10375502C>ACA432441144ATP2B2c.1209G>T (p.Val403=)
c.1311G>T (p.Val437=)
c.1344G>T (p.Val448=)
c.1251G>T (p.Val417=)
c.603G>T (p.Val201=)
c.912G>T (p.Val304=)
c.276G>T (p.Val92=)
 gnomAD v4
3g.10375502C>GCA432441146ATP2B2c.1209G>C (p.Val403=)
c.1311G>C (p.Val437=)
c.1344G>C (p.Val448=)
c.1251G>C (p.Val417=)
c.603G>C (p.Val201=)
c.912G>C (p.Val304=)
c.276G>C (p.Val92=)
3g.10375502C>TCA432441148ATP2B2c.1209G>A (p.Val403=)
c.1311G>A (p.Val437=)
c.1344G>A (p.Val448=)
c.1251G>A (p.Val417=)
c.603G>A (p.Val201=)
c.912G>A (p.Val304=)
c.276G>A (p.Val92=)
3g.10375503A>CCA351784362ATP2B2c.1208T>G (p.Val403Gly)
c.1310T>G (p.Val437Gly)
c.1343T>G (p.Val448Gly)
c.1250T>G (p.Val417Gly)
c.602T>G (p.Val201Gly)
c.911T>G (p.Val304Gly)
c.275T>G (p.Val92Gly)
3g.10375503A>GCA351784363ATP2B2c.1208T>C (p.Val403Ala)
c.1310T>C (p.Val437Ala)
c.1343T>C (p.Val448Ala)
c.1250T>C (p.Val417Ala)
c.602T>C (p.Val201Ala)
c.911T>C (p.Val304Ala)
c.275T>C (p.Val92Ala)
3g.10375503A>TCA351784364ATP2B2c.1208T>A (p.Val403Glu)
c.1310T>A (p.Val437Glu)
c.1343T>A (p.Val448Glu)
c.1250T>A (p.Val417Glu)
c.602T>A (p.Val201Glu)
c.911T>A (p.Val304Glu)
c.275T>A (p.Val92Glu)
3g.10375504C>ACA351784366ATP2B2c.1207G>T (p.Val403Leu)
c.1309G>T (p.Val437Leu)
c.1342G>T (p.Val448Leu)
c.1249G>T (p.Val417Leu)
c.601G>T (p.Val201Leu)
c.910G>T (p.Val304Leu)
c.274G>T (p.Val92Leu)
 gnomAD v4
3g.10375504C=CA1345182382ATP2B2c.1207G= (p.Val403=)
c.1309G= (p.Val437=)
c.1342G= (p.Val448=)
c.1249G= (p.Val417=)
c.601G= (p.Val201=)
c.910G= (p.Val304=)
c.274G= (p.Val92=)
3g.10375504C>GCA351784369ATP2B2c.1207G>C (p.Val403Leu)
c.1309G>C (p.Val437Leu)
c.1342G>C (p.Val448Leu)
c.1249G>C (p.Val417Leu)
c.601G>C (p.Val201Leu)
c.910G>C (p.Val304Leu)
c.274G>C (p.Val92Leu)
3g.10375504C>TCA351784367ATP2B2c.1207G>A (p.Val403Met)
c.1309G>A (p.Val437Met)
c.1342G>A (p.Val448Met)
c.1249G>A (p.Val417Met)
c.601G>A (p.Val201Met)
c.910G>A (p.Val304Met)
c.274G>A (p.Val92Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375505G>ACA2253691ATP2B2c.1206C>T (p.Gly402=)
c.1308C>T (p.Gly436=)
c.1341C>T (p.Gly447=)
c.1248C>T (p.Gly416=)
c.600C>T (p.Gly200=)
c.909C>T (p.Gly303=)
c.273C>T (p.Gly91=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375505G>CCA432441155ATP2B2c.1206C>G (p.Gly402=)
c.1308C>G (p.Gly436=)
c.1341C>G (p.Gly447=)
c.1248C>G (p.Gly416=)
c.600C>G (p.Gly200=)
c.909C>G (p.Gly303=)
c.273C>G (p.Gly91=)
3g.10375505G=CA1345182388ATP2B2c.1206C= (p.Gly402=)
c.1308C= (p.Gly436=)
c.1341C= (p.Gly447=)
c.1248C= (p.Gly416=)
c.600C= (p.Gly200=)
c.909C= (p.Gly303=)
c.273C= (p.Gly91=)
3g.10375505G>TCA432441154ATP2B2c.1206C>A (p.Gly402=)
c.1308C>A (p.Gly436=)
c.1341C>A (p.Gly447=)
c.1248C>A (p.Gly416=)
c.600C>A (p.Gly200=)
c.909C>A (p.Gly303=)
c.273C>A (p.Gly91=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375506C>ACA351784373ATP2B2c.1205G>T (p.Gly402Val)
c.1307G>T (p.Gly436Val)
c.1340G>T (p.Gly447Val)
c.1247G>T (p.Gly416Val)
c.599G>T (p.Gly200Val)
c.908G>T (p.Gly303Val)
c.272G>T (p.Gly91Val)
3g.10375506C>GCA351784371ATP2B2c.1205G>C (p.Gly402Ala)
c.1307G>C (p.Gly436Ala)
c.1340G>C (p.Gly447Ala)
c.1247G>C (p.Gly416Ala)
c.599G>C (p.Gly200Ala)
c.908G>C (p.Gly303Ala)
c.272G>C (p.Gly91Ala)
3g.10375506C>TCA351784375ATP2B2c.1205G>A (p.Gly402Asp)
c.1307G>A (p.Gly436Asp)
c.1340G>A (p.Gly447Asp)
c.1247G>A (p.Gly416Asp)
c.599G>A (p.Gly200Asp)
c.908G>A (p.Gly303Asp)
c.272G>A (p.Gly91Asp)
3g.10375507C>ACA351784377ATP2B2c.1204G>T (p.Gly402Cys)
c.1306G>T (p.Gly436Cys)
c.1339G>T (p.Gly447Cys)
c.1246G>T (p.Gly416Cys)
c.598G>T (p.Gly200Cys)
c.907G>T (p.Gly303Cys)
c.271G>T (p.Gly91Cys)
3g.10375507C>GCA351784380ATP2B2c.1204G>C (p.Gly402Arg)
c.1306G>C (p.Gly436Arg)
c.1339G>C (p.Gly447Arg)
c.1246G>C (p.Gly416Arg)
c.598G>C (p.Gly200Arg)
c.907G>C (p.Gly303Arg)
c.271G>C (p.Gly91Arg)
3g.10375507C>TCA351784378ATP2B2c.1204G>A (p.Gly402Ser)
c.1306G>A (p.Gly436Ser)
c.1339G>A (p.Gly447Ser)
c.1246G>A (p.Gly416Ser)
c.598G>A (p.Gly200Ser)
c.907G>A (p.Gly303Ser)
c.271G>A (p.Gly91Ser)
3g.10375508A>CCA351784382ATP2B2c.1203T>G (p.Ile401Met)
c.1305T>G (p.Ile435Met)
c.1338T>G (p.Ile446Met)
c.1245T>G (p.Ile415Met)
c.597T>G (p.Ile199Met)
c.906T>G (p.Ile302Met)
c.270T>G (p.Ile90Met)
3g.10375508A>GCA432441164ATP2B2c.1203T>C (p.Ile401=)
c.1305T>C (p.Ile435=)
c.1338T>C (p.Ile446=)
c.1245T>C (p.Ile415=)
c.597T>C (p.Ile199=)
c.906T>C (p.Ile302=)
c.270T>C (p.Ile90=)
3g.10375508A>TCA432441166ATP2B2c.1203T>A (p.Ile401=)
c.1305T>A (p.Ile435=)
c.1338T>A (p.Ile446=)
c.1245T>A (p.Ile415=)
c.597T>A (p.Ile199=)
c.906T>A (p.Ile302=)
c.270T>A (p.Ile90=)
3g.10375509A=CA1345182390ATP2B2c.1202T= (p.Ile401=)
c.1304T= (p.Ile435=)
c.1337T= (p.Ile446=)
c.1244T= (p.Ile415=)
c.596T= (p.Ile199=)
c.905T= (p.Ile302=)
c.269T= (p.Ile90=)
3g.10375509A>CCA351784384ATP2B2c.1202T>G (p.Ile401Ser)
c.1304T>G (p.Ile435Ser)
c.1337T>G (p.Ile446Ser)
c.1244T>G (p.Ile415Ser)
c.596T>G (p.Ile199Ser)
c.905T>G (p.Ile302Ser)
c.269T>G (p.Ile90Ser)
3g.10375509A>GCA2253692ATP2B2c.1202T>C (p.Ile401Thr)
c.1304T>C (p.Ile435Thr)
c.1337T>C (p.Ile446Thr)
c.1244T>C (p.Ile415Thr)
c.596T>C (p.Ile199Thr)
c.905T>C (p.Ile302Thr)
c.269T>C (p.Ile90Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375509A>TCA351784386ATP2B2c.1202T>A (p.Ile401Asn)
c.1304T>A (p.Ile435Asn)
c.1337T>A (p.Ile446Asn)
c.1244T>A (p.Ile415Asn)
c.596T>A (p.Ile199Asn)
c.905T>A (p.Ile302Asn)
c.269T>A (p.Ile90Asn)
3g.10375510T>ACA351784388ATP2B2c.1201A>T (p.Ile401Phe)
c.1303A>T (p.Ile435Phe)
c.1336A>T (p.Ile446Phe)
c.1243A>T (p.Ile415Phe)
c.595A>T (p.Ile199Phe)
c.904A>T (p.Ile302Phe)
c.268A>T (p.Ile90Phe)
3g.10375510T>CCA2253693ATP2B2c.1201A>G (p.Ile401Val)
c.1303A>G (p.Ile435Val)
c.1336A>G (p.Ile446Val)
c.1243A>G (p.Ile415Val)
c.595A>G (p.Ile199Val)
c.904A>G (p.Ile302Val)
c.268A>G (p.Ile90Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375510T>GCA351784389ATP2B2c.1201A>C (p.Ile401Leu)
c.1303A>C (p.Ile435Leu)
c.1336A>C (p.Ile446Leu)
c.1243A>C (p.Ile415Leu)
c.595A>C (p.Ile199Leu)
c.904A>C (p.Ile302Leu)
c.268A>C (p.Ile90Leu)
3g.10375510T=CA1345182393ATP2B2c.1201A= (p.Ile401=)
c.1303A= (p.Ile435=)
c.1336A= (p.Ile446=)
c.1243A= (p.Ile415=)
c.595A= (p.Ile199=)
c.904A= (p.Ile302=)
c.268A= (p.Ile90=)
3g.10375511G>ACA2253694ATP2B2c.1200C>T (p.Ile400=)
c.1302C>T (p.Ile434=)
c.1335C>T (p.Ile445=)
c.1242C>T (p.Ile414=)
c.594C>T (p.Ile198=)
c.903C>T (p.Ile301=)
c.267C>T (p.Ile89=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375511G>CCA351784390ATP2B2c.1200C>G (p.Ile400Met)
c.1302C>G (p.Ile434Met)
c.1335C>G (p.Ile445Met)
c.1242C>G (p.Ile414Met)
c.594C>G (p.Ile198Met)
c.903C>G (p.Ile301Met)
c.267C>G (p.Ile89Met)
3g.10375511G=CA1345182397ATP2B2c.1200C= (p.Ile400=)
c.1302C= (p.Ile434=)
c.1335C= (p.Ile445=)
c.1242C= (p.Ile414=)
c.594C= (p.Ile198=)
c.903C= (p.Ile301=)
c.267C= (p.Ile89=)
3g.10375511G>TCA432441167ATP2B2c.1200C>A (p.Ile400=)
c.1302C>A (p.Ile434=)
c.1335C>A (p.Ile445=)
c.1242C>A (p.Ile414=)
c.594C>A (p.Ile198=)
c.903C>A (p.Ile301=)
c.267C>A (p.Ile89=)
3g.10375512A>CCA351784392ATP2B2c.1199T>G (p.Ile400Ser)
c.1301T>G (p.Ile434Ser)
c.1334T>G (p.Ile445Ser)
c.1241T>G (p.Ile414Ser)
c.593T>G (p.Ile198Ser)
c.902T>G (p.Ile301Ser)
c.266T>G (p.Ile89Ser)
3g.10375512A>GCA351784394ATP2B2c.1199T>C (p.Ile400Thr)
c.1301T>C (p.Ile434Thr)
c.1334T>C (p.Ile445Thr)
c.1241T>C (p.Ile414Thr)
c.593T>C (p.Ile198Thr)
c.902T>C (p.Ile301Thr)
c.266T>C (p.Ile89Thr)
3g.10375512A>TCA351784395ATP2B2c.1199T>A (p.Ile400Asn)
c.1301T>A (p.Ile434Asn)
c.1334T>A (p.Ile445Asn)
c.1241T>A (p.Ile414Asn)
c.593T>A (p.Ile198Asn)
c.902T>A (p.Ile301Asn)
c.266T>A (p.Ile89Asn)
3g.10375513T>ACA351784401ATP2B2c.1198A>T (p.Ile400Phe)
c.1300A>T (p.Ile434Phe)
c.1333A>T (p.Ile445Phe)
c.1240A>T (p.Ile414Phe)
c.592A>T (p.Ile198Phe)
c.901A>T (p.Ile301Phe)
c.265A>T (p.Ile89Phe)
3g.10375513T>CCA351784397ATP2B2c.1198A>G (p.Ile400Val)
c.1300A>G (p.Ile434Val)
c.1333A>G (p.Ile445Val)
c.1240A>G (p.Ile414Val)
c.592A>G (p.Ile198Val)
c.901A>G (p.Ile301Val)
c.265A>G (p.Ile89Val)
 gnomAD v4
3g.10375513T>GCA351784399ATP2B2c.1198A>C (p.Ile400Leu)
c.1300A>C (p.Ile434Leu)
c.1333A>C (p.Ile445Leu)
c.1240A>C (p.Ile414Leu)
c.592A>C (p.Ile198Leu)
c.901A>C (p.Ile301Leu)
c.265A>C (p.Ile89Leu)
3g.10375513_10375516delinsTGAACA1345182399ATP2B2c.1195_1198delinsTTCA (p.Phe399=)
c.1297_1300delinsTTCA (p.Phe433=)
c.1330_1333delinsTTCA (p.Phe444=)
c.1237_1240delinsTTCA (p.Phe413=)
c.589_592delinsTTCA (p.Phe197=)
c.898_901delinsTTCA (p.Phe300=)
c.262_265delinsTTCA (p.Phe88=)
3g.10375514G>ACA432441173ATP2B2c.1197C>T (p.Phe399=)
c.1299C>T (p.Phe433=)
c.1332C>T (p.Phe444=)
c.1239C>T (p.Phe413=)
c.591C>T (p.Phe197=)
c.900C>T (p.Phe300=)
c.264C>T (p.Phe88=)
3g.10375514G>CCA351784402ATP2B2c.1197C>G (p.Phe399Leu)
c.1299C>G (p.Phe433Leu)
c.1332C>G (p.Phe444Leu)
c.1239C>G (p.Phe413Leu)
c.591C>G (p.Phe197Leu)
c.900C>G (p.Phe300Leu)
c.264C>G (p.Phe88Leu)
3g.10375514G>TCA351784403ATP2B2c.1197C>A (p.Phe399Leu)
c.1299C>A (p.Phe433Leu)
c.1332C>A (p.Phe444Leu)
c.1239C>A (p.Phe413Leu)
c.591C>A (p.Phe197Leu)
c.900C>A (p.Phe300Leu)
c.264C>A (p.Phe88Leu)
3g.10375517_10375519delCA658657275ATP2B2c.1195_1197del (p.Phe399del)
c.1297_1299del (p.Phe433del)
c.1330_1332del (p.Phe444del)
c.1237_1239del (p.Phe413del)
c.589_591del (p.Phe197del)
c.898_900del (p.Phe300del)
c.262_264del (p.Phe88del)
 ClinVar dbSNP
3g.10375515A=CA1345182405ATP2B2c.1196T= (p.Phe399=)
c.1298T= (p.Phe433=)
c.1331T= (p.Phe444=)
c.1238T= (p.Phe413=)
c.590T= (p.Phe197=)
c.899T= (p.Phe300=)
c.263T= (p.Phe88=)
3g.10375515A>CCA351784405ATP2B2c.1196T>G (p.Phe399Cys)
c.1298T>G (p.Phe433Cys)
c.1331T>G (p.Phe444Cys)
c.1238T>G (p.Phe413Cys)
c.590T>G (p.Phe197Cys)
c.899T>G (p.Phe300Cys)
c.263T>G (p.Phe88Cys)
3g.10375515A>GCA351784407ATP2B2c.1196T>C (p.Phe399Ser)
c.1298T>C (p.Phe433Ser)
c.1331T>C (p.Phe444Ser)
c.1238T>C (p.Phe413Ser)
c.590T>C (p.Phe197Ser)
c.899T>C (p.Phe300Ser)
c.263T>C (p.Phe88Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10375515A>TCA351784409ATP2B2c.1196T>A (p.Phe399Tyr)
c.1298T>A (p.Phe433Tyr)
c.1331T>A (p.Phe444Tyr)
c.1238T>A (p.Phe413Tyr)
c.590T>A (p.Phe197Tyr)
c.899T>A (p.Phe300Tyr)
c.263T>A (p.Phe88Tyr)
3g.10375516A>CCA351784410ATP2B2c.1195T>G (p.Phe399Val)
c.1297T>G (p.Phe433Val)
c.1330T>G (p.Phe444Val)
c.1237T>G (p.Phe413Val)
c.589T>G (p.Phe197Val)
c.898T>G (p.Phe300Val)
c.262T>G (p.Phe88Val)
3g.10375516A>GCA351784411ATP2B2c.1195T>C (p.Phe399Leu)
c.1297T>C (p.Phe433Leu)
c.1330T>C (p.Phe444Leu)
c.1237T>C (p.Phe413Leu)
c.589T>C (p.Phe197Leu)
c.898T>C (p.Phe300Leu)
c.262T>C (p.Phe88Leu)
3g.10375516A>TCA351784412ATP2B2c.1195T>A (p.Phe399Ile)
c.1297T>A (p.Phe433Ile)
c.1330T>A (p.Phe444Ile)
c.1237T>A (p.Phe413Ile)
c.589T>A (p.Phe197Ile)
c.898T>A (p.Phe300Ile)
c.262T>A (p.Phe88Ile)
3g.10375517G>ACA432441183ATP2B2c.1194C>T (p.Phe398=)
c.1296C>T (p.Phe432=)
c.1329C>T (p.Phe443=)
c.1236C>T (p.Phe412=)
c.588C>T (p.Phe196=)
c.897C>T (p.Phe299=)
c.261C>T (p.Phe87=)
3g.10375517G>CCA351784413ATP2B2c.1194C>G (p.Phe398Leu)
c.1296C>G (p.Phe432Leu)
c.1329C>G (p.Phe443Leu)
c.1236C>G (p.Phe412Leu)
c.588C>G (p.Phe196Leu)
c.897C>G (p.Phe299Leu)
c.261C>G (p.Phe87Leu)
3g.10375517G>TCA351784414ATP2B2c.1194C>A (p.Phe398Leu)
c.1296C>A (p.Phe432Leu)
c.1329C>A (p.Phe443Leu)
c.1236C>A (p.Phe412Leu)
c.588C>A (p.Phe196Leu)
c.897C>A (p.Phe299Leu)
c.261C>A (p.Phe87Leu)
 gnomAD v4
3g.10375518A>CCA351784417ATP2B2c.1193T>G (p.Phe398Cys)
c.1295T>G (p.Phe432Cys)
c.1328T>G (p.Phe443Cys)
c.1235T>G (p.Phe412Cys)
c.587T>G (p.Phe196Cys)
c.896T>G (p.Phe299Cys)
c.260T>G (p.Phe87Cys)
3g.10375518A>GCA351784416ATP2B2c.1193T>C (p.Phe398Ser)
c.1295T>C (p.Phe432Ser)
c.1328T>C (p.Phe443Ser)
c.1235T>C (p.Phe412Ser)
c.587T>C (p.Phe196Ser)
c.896T>C (p.Phe299Ser)
c.260T>C (p.Phe87Ser)
3g.10375518A>TCA351784415ATP2B2c.1193T>A (p.Phe398Tyr)
c.1295T>A (p.Phe432Tyr)
c.1328T>A (p.Phe443Tyr)
c.1235T>A (p.Phe412Tyr)
c.587T>A (p.Phe196Tyr)
c.896T>A (p.Phe299Tyr)
c.260T>A (p.Phe87Tyr)
3g.10375519A>CCA351784418ATP2B2c.1192T>G (p.Phe398Val)
c.1294T>G (p.Phe432Val)
c.1327T>G (p.Phe443Val)
c.1234T>G (p.Phe412Val)
c.586T>G (p.Phe196Val)
c.895T>G (p.Phe299Val)
c.259T>G (p.Phe87Val)
3g.10375519A>GCA351784419ATP2B2c.1192T>C (p.Phe398Leu)
c.1294T>C (p.Phe432Leu)
c.1327T>C (p.Phe443Leu)
c.1234T>C (p.Phe412Leu)
c.586T>C (p.Phe196Leu)
c.895T>C (p.Phe299Leu)
c.259T>C (p.Phe87Leu)
3g.10375519A>TCA351784420ATP2B2c.1192T>A (p.Phe398Ile)
c.1294T>A (p.Phe432Ile)
c.1327T>A (p.Phe443Ile)
c.1234T>A (p.Phe412Ile)
c.586T>A (p.Phe196Ile)
c.895T>A (p.Phe299Ile)
c.259T>A (p.Phe87Ile)
3g.10375520C>ACA351784421ATP2B2c.1191G>T (p.Lys397Asn)
c.1293G>T (p.Lys431Asn)
c.1326G>T (p.Lys442Asn)
c.1233G>T (p.Lys411Asn)
c.585G>T (p.Lys195Asn)
c.894G>T (p.Lys298Asn)
c.258G>T (p.Lys86Asn)
3g.10375520C>GCA351784422ATP2B2c.1191G>C (p.Lys397Asn)
c.1293G>C (p.Lys431Asn)
c.1326G>C (p.Lys442Asn)
c.1233G>C (p.Lys411Asn)
c.585G>C (p.Lys195Asn)
c.894G>C (p.Lys298Asn)
c.258G>C (p.Lys86Asn)
 gnomAD v4
3g.10375520C>TCA432441191ATP2B2c.1191G>A (p.Lys397=)
c.1293G>A (p.Lys431=)
c.1326G>A (p.Lys442=)
c.1233G>A (p.Lys411=)
c.585G>A (p.Lys195=)
c.894G>A (p.Lys298=)
c.258G>A (p.Lys86=)
3g.10375521T>ACA351784423ATP2B2c.1190A>T (p.Lys397Met)
c.1292A>T (p.Lys431Met)
c.1325A>T (p.Lys442Met)
c.1232A>T (p.Lys411Met)
c.584A>T (p.Lys195Met)
c.893A>T (p.Lys298Met)
c.257A>T (p.Lys86Met)
3g.10375521T>CCA351784424ATP2B2c.1190A>G (p.Lys397Arg)
c.1292A>G (p.Lys431Arg)
c.1325A>G (p.Lys442Arg)
c.1232A>G (p.Lys411Arg)
c.584A>G (p.Lys195Arg)
c.893A>G (p.Lys298Arg)
c.257A>G (p.Lys86Arg)
3g.10375521T>GCA351784425ATP2B2c.1190A>C (p.Lys397Thr)
c.1292A>C (p.Lys431Thr)
c.1325A>C (p.Lys442Thr)
c.1232A>C (p.Lys411Thr)
c.584A>C (p.Lys195Thr)
c.893A>C (p.Lys298Thr)
c.257A>C (p.Lys86Thr)
3g.10375522T>ACA351784426ATP2B2c.1189A>T (p.Lys397Ter)
c.1291A>T (p.Lys431Ter)
c.1324A>T (p.Lys442Ter)
c.1231A>T (p.Lys411Ter)
c.583A>T (p.Lys195Ter)
c.892A>T (p.Lys298Ter)
c.256A>T (p.Lys86Ter)
3g.10375522T>CCA351784427ATP2B2c.1189A>G (p.Lys397Glu)
c.1291A>G (p.Lys431Glu)
c.1324A>G (p.Lys442Glu)
c.1231A>G (p.Lys411Glu)
c.583A>G (p.Lys195Glu)
c.892A>G (p.Lys298Glu)
c.256A>G (p.Lys86Glu)
 COSMIC COSMIC
3g.10375522T>GCA351784428ATP2B2c.1189A>C (p.Lys397Gln)
c.1291A>C (p.Lys431Gln)
c.1324A>C (p.Lys442Gln)
c.1231A>C (p.Lys411Gln)
c.583A>C (p.Lys195Gln)
c.892A>C (p.Lys298Gln)
c.256A>C (p.Lys86Gln)
3g.10375523G>ACA432441197ATP2B2c.1188C>T (p.Val396=)
c.1290C>T (p.Val430=)
c.1323C>T (p.Val441=)
c.1230C>T (p.Val410=)
c.582C>T (p.Val194=)
c.891C>T (p.Val297=)
c.255C>T (p.Val85=)
3g.10375523G>CCA432441198ATP2B2c.1188C>G (p.Val396=)
c.1290C>G (p.Val430=)
c.1323C>G (p.Val441=)
c.1230C>G (p.Val410=)
c.582C>G (p.Val194=)
c.891C>G (p.Val297=)
c.255C>G (p.Val85=)
3g.10375523G>TCA432441199ATP2B2c.1188C>A (p.Val396=)
c.1290C>A (p.Val430=)
c.1323C>A (p.Val441=)
c.1230C>A (p.Val410=)
c.582C>A (p.Val194=)
c.891C>A (p.Val297=)
c.255C>A (p.Val85=)
3g.10375524A>CCA351784431ATP2B2c.1187T>G (p.Val396Gly)
c.1289T>G (p.Val430Gly)
c.1322T>G (p.Val441Gly)
c.1229T>G (p.Val410Gly)
c.581T>G (p.Val194Gly)
c.890T>G (p.Val297Gly)
c.254T>G (p.Val85Gly)
3g.10375524A>GCA351784430ATP2B2c.1187T>C (p.Val396Ala)
c.1289T>C (p.Val430Ala)
c.1322T>C (p.Val441Ala)
c.1229T>C (p.Val410Ala)
c.581T>C (p.Val194Ala)
c.890T>C (p.Val297Ala)
c.254T>C (p.Val85Ala)
3g.10375524A>TCA351784429ATP2B2c.1187T>A (p.Val396Asp)
c.1289T>A (p.Val430Asp)
c.1322T>A (p.Val441Asp)
c.1229T>A (p.Val410Asp)
c.581T>A (p.Val194Asp)
c.890T>A (p.Val297Asp)
c.254T>A (p.Val85Asp)
3g.10375525C>ACA351784432ATP2B2c.1186G>T (p.Val396Phe)
c.1288G>T (p.Val430Phe)
c.1321G>T (p.Val441Phe)
c.1228G>T (p.Val410Phe)
c.580G>T (p.Val194Phe)
c.889G>T (p.Val297Phe)
c.253G>T (p.Val85Phe)
3g.10375525C>GCA351784433ATP2B2c.1186G>C (p.Val396Leu)
c.1288G>C (p.Val430Leu)
c.1321G>C (p.Val441Leu)
c.1228G>C (p.Val410Leu)
c.580G>C (p.Val194Leu)
c.889G>C (p.Val297Leu)
c.253G>C (p.Val85Leu)
3g.10375525C>TCA351784434ATP2B2c.1186G>A (p.Val396Ile)
c.1288G>A (p.Val430Ile)
c.1321G>A (p.Val441Ile)
c.1228G>A (p.Val410Ile)
c.580G>A (p.Val194Ile)
c.889G>A (p.Val297Ile)
c.253G>A (p.Val85Ile)
3g.10375526A>CCA351784435ATP2B2c.1185T>G (p.Phe395Leu)
c.1287T>G (p.Phe429Leu)
c.1320T>G (p.Phe440Leu)
c.1227T>G (p.Phe409Leu)
c.579T>G (p.Phe193Leu)
c.888T>G (p.Phe296Leu)
c.252T>G (p.Phe84Leu)
3g.10375526A>GCA432441208ATP2B2c.1185T>C (p.Phe395=)
c.1287T>C (p.Phe429=)
c.1320T>C (p.Phe440=)
c.1227T>C (p.Phe409=)
c.579T>C (p.Phe193=)
c.888T>C (p.Phe296=)
c.252T>C (p.Phe84=)
3g.10375526A>TCA351784436ATP2B2c.1185T>A (p.Phe395Leu)
c.1287T>A (p.Phe429Leu)
c.1320T>A (p.Phe440Leu)
c.1227T>A (p.Phe409Leu)
c.579T>A (p.Phe193Leu)
c.888T>A (p.Phe296Leu)
c.252T>A (p.Phe84Leu)
3g.10375527A>CCA351784437ATP2B2c.1184T>G (p.Phe395Cys)
c.1286T>G (p.Phe429Cys)
c.1319T>G (p.Phe440Cys)
c.1226T>G (p.Phe409Cys)
c.578T>G (p.Phe193Cys)
c.887T>G (p.Phe296Cys)
c.251T>G (p.Phe84Cys)
3g.10375527A>GCA351784438ATP2B2c.1184T>C (p.Phe395Ser)
c.1286T>C (p.Phe429Ser)
c.1319T>C (p.Phe440Ser)
c.1226T>C (p.Phe409Ser)
c.578T>C (p.Phe193Ser)
c.887T>C (p.Phe296Ser)
c.251T>C (p.Phe84Ser)
3g.10375527A>TCA351784439ATP2B2c.1184T>A (p.Phe395Tyr)
c.1286T>A (p.Phe429Tyr)
c.1319T>A (p.Phe440Tyr)
c.1226T>A (p.Phe409Tyr)
c.578T>A (p.Phe193Tyr)
c.887T>A (p.Phe296Tyr)
c.251T>A (p.Phe84Tyr)
3g.10375528A=CA1345182409ATP2B2c.1183T= (p.Phe395=)
c.1285T= (p.Phe429=)
c.1318T= (p.Phe440=)
c.1225T= (p.Phe409=)
c.577T= (p.Phe193=)
c.886T= (p.Phe296=)
c.250T= (p.Phe84=)
3g.10375528A>CCA351784440ATP2B2c.1183T>G (p.Phe395Val)
c.1285T>G (p.Phe429Val)
c.1318T>G (p.Phe440Val)
c.1225T>G (p.Phe409Val)
c.577T>G (p.Phe193Val)
c.886T>G (p.Phe296Val)
c.250T>G (p.Phe84Val)
3g.10375528A>GCA351784441ATP2B2c.1183T>C (p.Phe395Leu)
c.1285T>C (p.Phe429Leu)
c.1318T>C (p.Phe440Leu)
c.1225T>C (p.Phe409Leu)
c.577T>C (p.Phe193Leu)
c.886T>C (p.Phe296Leu)
c.250T>C (p.Phe84Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.10375528A>TCA351784442ATP2B2c.1183T>A (p.Phe395Ile)
c.1285T>A (p.Phe429Ile)
c.1318T>A (p.Phe440Ile)
c.1225T>A (p.Phe409Ile)
c.577T>A (p.Phe193Ile)
c.886T>A (p.Phe296Ile)
c.250T>A (p.Phe84Ile)
3g.10375529G>ACA70116190ATP2B2c.1182C>T (p.Tyr394=)
c.1284C>T (p.Tyr428=)
c.1317C>T (p.Tyr439=)
c.1224C>T (p.Tyr408=)
c.576C>T (p.Tyr192=)
c.885C>T (p.Tyr295=)
c.249C>T (p.Tyr83=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375529G>CCA351784443ATP2B2c.1182C>G (p.Tyr394Ter)
c.1284C>G (p.Tyr428Ter)
c.1317C>G (p.Tyr439Ter)
c.1224C>G (p.Tyr408Ter)
c.576C>G (p.Tyr192Ter)
c.885C>G (p.Tyr295Ter)
c.249C>G (p.Tyr83Ter)
3g.10375529G=CA1345182411ATP2B2c.1182C= (p.Tyr394=)
c.1284C= (p.Tyr428=)
c.1317C= (p.Tyr439=)
c.1224C= (p.Tyr408=)
c.576C= (p.Tyr192=)
c.885C= (p.Tyr295=)
c.249C= (p.Tyr83=)
3g.10375529G>TCA351784444ATP2B2c.1182C>A (p.Tyr394Ter)
c.1284C>A (p.Tyr428Ter)
c.1317C>A (p.Tyr439Ter)
c.1224C>A (p.Tyr408Ter)
c.576C>A (p.Tyr192Ter)
c.885C>A (p.Tyr295Ter)
c.249C>A (p.Tyr83Ter)
3g.10375530T>ACA2253695ATP2B2c.1181A>T (p.Tyr394Phe)
c.1283A>T (p.Tyr428Phe)
c.1316A>T (p.Tyr439Phe)
c.1223A>T (p.Tyr408Phe)
c.575A>T (p.Tyr192Phe)
c.884A>T (p.Tyr295Phe)
c.248A>T (p.Tyr83Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375530T>CCA351784446ATP2B2c.1181A>G (p.Tyr394Cys)
c.1283A>G (p.Tyr428Cys)
c.1316A>G (p.Tyr439Cys)
c.1223A>G (p.Tyr408Cys)
c.575A>G (p.Tyr192Cys)
c.884A>G (p.Tyr295Cys)
c.248A>G (p.Tyr83Cys)
3g.10375530T>GCA351784445ATP2B2c.1181A>C (p.Tyr394Ser)
c.1283A>C (p.Tyr428Ser)
c.1316A>C (p.Tyr439Ser)
c.1223A>C (p.Tyr408Ser)
c.575A>C (p.Tyr192Ser)
c.884A>C (p.Tyr295Ser)
c.248A>C (p.Tyr83Ser)
3g.10375530T=CA1345182413ATP2B2c.1181A= (p.Tyr394=)
c.1283A= (p.Tyr428=)
c.1316A= (p.Tyr439=)
c.1223A= (p.Tyr408=)
c.575A= (p.Tyr192=)
c.884A= (p.Tyr295=)
c.248A= (p.Tyr83=)
3g.10375531A>CCA351784447ATP2B2c.1180T>G (p.Tyr394Asp)
c.1282T>G (p.Tyr428Asp)
c.1315T>G (p.Tyr439Asp)
c.1222T>G (p.Tyr408Asp)
c.574T>G (p.Tyr192Asp)
c.883T>G (p.Tyr295Asp)
c.247T>G (p.Tyr83Asp)
3g.10375531A>GCA351784448ATP2B2c.1180T>C (p.Tyr394His)
c.1282T>C (p.Tyr428His)
c.1315T>C (p.Tyr439His)
c.1222T>C (p.Tyr408His)
c.574T>C (p.Tyr192His)
c.883T>C (p.Tyr295His)
c.247T>C (p.Tyr83His)
 gnomAD v4
3g.10375531A>TCA351784449ATP2B2c.1180T>A (p.Tyr394Asn)
c.1282T>A (p.Tyr428Asn)
c.1315T>A (p.Tyr439Asn)
c.1222T>A (p.Tyr408Asn)
c.574T>A (p.Tyr192Asn)
c.883T>A (p.Tyr295Asn)
c.247T>A (p.Tyr83Asn)
3g.10375532C>ACA351784450ATP2B2c.1179G>T (p.Gln393His)
c.1281G>T (p.Gln427His)
c.1314G>T (p.Gln438His)
c.1221G>T (p.Gln407His)
c.573G>T (p.Gln191His)
c.882G>T (p.Gln294His)
c.246G>T (p.Gln82His)
3g.10375532C>GCA351784451ATP2B2c.1179G>C (p.Gln393His)
c.1281G>C (p.Gln427His)
c.1314G>C (p.Gln438His)
c.1221G>C (p.Gln407His)
c.573G>C (p.Gln191His)
c.882G>C (p.Gln294His)
c.246G>C (p.Gln82His)
3g.10375532C>TCA432441224ATP2B2c.1179G>A (p.Gln393=)
c.1281G>A (p.Gln427=)
c.1314G>A (p.Gln438=)
c.1221G>A (p.Gln407=)
c.573G>A (p.Gln191=)
c.882G>A (p.Gln294=)
c.246G>A (p.Gln82=)
3g.10375533T>ACA351784454ATP2B2c.1178A>T (p.Gln393Leu)
c.1280A>T (p.Gln427Leu)
c.1313A>T (p.Gln438Leu)
c.1220A>T (p.Gln407Leu)
c.572A>T (p.Gln191Leu)
c.881A>T (p.Gln294Leu)
c.245A>T (p.Gln82Leu)
3g.10375533T>CCA351784453ATP2B2c.1178A>G (p.Gln393Arg)
c.1280A>G (p.Gln427Arg)
c.1313A>G (p.Gln438Arg)
c.1220A>G (p.Gln407Arg)
c.572A>G (p.Gln191Arg)
c.881A>G (p.Gln294Arg)
c.245A>G (p.Gln82Arg)
3g.10375533T>GCA351784452ATP2B2c.1178A>C (p.Gln393Pro)
c.1280A>C (p.Gln427Pro)
c.1313A>C (p.Gln438Pro)
c.1220A>C (p.Gln407Pro)
c.572A>C (p.Gln191Pro)
c.881A>C (p.Gln294Pro)
c.245A>C (p.Gln82Pro)
3g.10375534G>ACA351784455ATP2B2c.1177C>T (p.Gln393Ter)
c.1279C>T (p.Gln427Ter)
c.1312C>T (p.Gln438Ter)
c.1219C>T (p.Gln407Ter)
c.571C>T (p.Gln191Ter)
c.880C>T (p.Gln294Ter)
c.244C>T (p.Gln82Ter)
3g.10375534G>CCA351784456ATP2B2c.1177C>G (p.Gln393Glu)
c.1279C>G (p.Gln427Glu)
c.1312C>G (p.Gln438Glu)
c.1219C>G (p.Gln407Glu)
c.571C>G (p.Gln191Glu)
c.880C>G (p.Gln294Glu)
c.244C>G (p.Gln82Glu)
3g.10375534G>TCA351784457ATP2B2c.1177C>A (p.Gln393Lys)
c.1279C>A (p.Gln427Lys)
c.1312C>A (p.Gln438Lys)
c.1219C>A (p.Gln407Lys)
c.571C>A (p.Gln191Lys)
c.880C>A (p.Gln294Lys)
c.244C>A (p.Gln82Lys)
3g.10375535_10375538delCA645516290ATP2B2c.1174_1177del (p.Val392SerfsTer11)
c.1276_1279del (p.Val426SerfsTer11)
c.1309_1312del (p.Val437SerfsTer11)
c.1216_1219del (p.Val406SerfsTer11)
c.568_571del (p.Val190SerfsTer11)
c.877_880del (p.Val293SerfsTer11)
c.241_244del (p.Val81SerfsTer11)
 COSMIC COSMIC
3g.10375535C>ACA2253696ATP2B2c.1176G>T (p.Val392=)
c.1278G>T (p.Val426=)
c.1311G>T (p.Val437=)
c.1218G>T (p.Val406=)
c.570G>T (p.Val190=)
c.879G>T (p.Val293=)
c.243G>T (p.Val81=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375535C=CA1345182416ATP2B2c.1176G= (p.Val392=)
c.1278G= (p.Val426=)
c.1311G= (p.Val437=)
c.1218G= (p.Val406=)
c.570G= (p.Val190=)
c.879G= (p.Val293=)
c.243G= (p.Val81=)
3g.10375535C>GCA432441232ATP2B2c.1176G>C (p.Val392=)
c.1278G>C (p.Val426=)
c.1311G>C (p.Val437=)
c.1218G>C (p.Val406=)
c.570G>C (p.Val190=)
c.879G>C (p.Val293=)
c.243G>C (p.Val81=)
3g.10375535C>TCA432441233ATP2B2c.1176G>A (p.Val392=)
c.1278G>A (p.Val426=)
c.1311G>A (p.Val437=)
c.1218G>A (p.Val406=)
c.570G>A (p.Val190=)
c.879G>A (p.Val293=)
c.243G>A (p.Val81=)
 dbSNP
3g.10375536A>CCA351784458ATP2B2c.1175T>G (p.Val392Gly)
c.1277T>G (p.Val426Gly)
c.1310T>G (p.Val437Gly)
c.1217T>G (p.Val406Gly)
c.569T>G (p.Val190Gly)
c.878T>G (p.Val293Gly)
c.242T>G (p.Val81Gly)
3g.10375536A>GCA351784459ATP2B2c.1175T>C (p.Val392Ala)
c.1277T>C (p.Val426Ala)
c.1310T>C (p.Val437Ala)
c.1217T>C (p.Val406Ala)
c.569T>C (p.Val190Ala)
c.878T>C (p.Val293Ala)
c.242T>C (p.Val81Ala)
 gnomAD v4
3g.10375536A>TCA351784460ATP2B2c.1175T>A (p.Val392Glu)
c.1277T>A (p.Val426Glu)
c.1310T>A (p.Val437Glu)
c.1217T>A (p.Val406Glu)
c.569T>A (p.Val190Glu)
c.878T>A (p.Val293Glu)
c.242T>A (p.Val81Glu)
3g.10375537C>ACA351784461ATP2B2c.1174G>T (p.Val392Leu)
c.1276G>T (p.Val426Leu)
c.1309G>T (p.Val437Leu)
c.1216G>T (p.Val406Leu)
c.568G>T (p.Val190Leu)
c.877G>T (p.Val293Leu)
c.241G>T (p.Val81Leu)
3g.10375537C=CA1345182420ATP2B2c.1174G= (p.Val392=)
c.1276G= (p.Val426=)
c.1309G= (p.Val437=)
c.1216G= (p.Val406=)
c.568G= (p.Val190=)
c.877G= (p.Val293=)
c.241G= (p.Val81=)
3g.10375537C>GCA351784462ATP2B2c.1174G>C (p.Val392Leu)
c.1276G>C (p.Val426Leu)
c.1309G>C (p.Val437Leu)
c.1216G>C (p.Val406Leu)
c.568G>C (p.Val190Leu)
c.877G>C (p.Val293Leu)
c.241G>C (p.Val81Leu)
3g.10375537C>TCA2253697ATP2B2c.1174G>A (p.Val392Met)
c.1276G>A (p.Val426Met)
c.1309G>A (p.Val437Met)
c.1216G>A (p.Val406Met)
c.568G>A (p.Val190Met)
c.877G>A (p.Val293Met)
c.241G>A (p.Val81Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375538G>ACA2253698ATP2B2c.1173C>T (p.Tyr391=)
c.1275C>T (p.Tyr425=)
c.1308C>T (p.Tyr436=)
c.1215C>T (p.Tyr405=)
c.567C>T (p.Tyr189=)
c.876C>T (p.Tyr292=)
c.240C>T (p.Tyr80=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375538G>CCA351784463ATP2B2c.1173C>G (p.Tyr391Ter)
c.1275C>G (p.Tyr425Ter)
c.1308C>G (p.Tyr436Ter)
c.1215C>G (p.Tyr405Ter)
c.567C>G (p.Tyr189Ter)
c.876C>G (p.Tyr292Ter)
c.240C>G (p.Tyr80Ter)
3g.10375538G=CA1345182428ATP2B2c.1173C= (p.Tyr391=)
c.1275C= (p.Tyr425=)
c.1308C= (p.Tyr436=)
c.1215C= (p.Tyr405=)
c.567C= (p.Tyr189=)
c.876C= (p.Tyr292=)
c.240C= (p.Tyr80=)
3g.10375538G>TCA351784464ATP2B2c.1173C>A (p.Tyr391Ter)
c.1275C>A (p.Tyr425Ter)
c.1308C>A (p.Tyr436Ter)
c.1215C>A (p.Tyr405Ter)
c.567C>A (p.Tyr189Ter)
c.876C>A (p.Tyr292Ter)
c.240C>A (p.Tyr80Ter)
3g.10375539T>ACA351784465ATP2B2c.1172A>T (p.Tyr391Phe)
c.1274A>T (p.Tyr425Phe)
c.1307A>T (p.Tyr436Phe)
c.1214A>T (p.Tyr405Phe)
c.566A>T (p.Tyr189Phe)
c.875A>T (p.Tyr292Phe)
c.239A>T (p.Tyr80Phe)
3g.10375539T>CCA351784466ATP2B2c.1172A>G (p.Tyr391Cys)
c.1274A>G (p.Tyr425Cys)
c.1307A>G (p.Tyr436Cys)
c.1214A>G (p.Tyr405Cys)
c.566A>G (p.Tyr189Cys)
c.875A>G (p.Tyr292Cys)
c.239A>G (p.Tyr80Cys)
3g.10375539T>GCA351784467ATP2B2c.1172A>C (p.Tyr391Ser)
c.1274A>C (p.Tyr425Ser)
c.1307A>C (p.Tyr436Ser)
c.1214A>C (p.Tyr405Ser)
c.566A>C (p.Tyr189Ser)
c.875A>C (p.Tyr292Ser)
c.239A>C (p.Tyr80Ser)
3g.10375540delCA432441249ATP2B2c.1171del (p.Tyr391ThrfsTer13)
c.1273del (p.Tyr425ThrfsTer13)
c.1306del (p.Tyr436ThrfsTer13)
c.1213del (p.Tyr405ThrfsTer13)
c.565del (p.Tyr189ThrfsTer13)
c.874del (p.Tyr292ThrfsTer13)
c.238del (p.Tyr80ThrfsTer13)
 COSMIC COSMIC
3g.10375540A>CCA351784468ATP2B2c.1171T>G (p.Tyr391Asp)
c.1273T>G (p.Tyr425Asp)
c.1306T>G (p.Tyr436Asp)
c.1213T>G (p.Tyr405Asp)
c.565T>G (p.Tyr189Asp)
c.874T>G (p.Tyr292Asp)
c.238T>G (p.Tyr80Asp)
3g.10375540A>GCA351784469ATP2B2c.1171T>C (p.Tyr391His)
c.1273T>C (p.Tyr425His)
c.1306T>C (p.Tyr436His)
c.1213T>C (p.Tyr405His)
c.565T>C (p.Tyr189His)
c.874T>C (p.Tyr292His)
c.238T>C (p.Tyr80His)
3g.10375540A>TCA351784470ATP2B2c.1171T>A (p.Tyr391Asn)
c.1273T>A (p.Tyr425Asn)
c.1306T>A (p.Tyr436Asn)
c.1213T>A (p.Tyr405Asn)
c.565T>A (p.Tyr189Asn)
c.874T>A (p.Tyr292Asn)
c.238T>A (p.Tyr80Asn)
3g.10375541_10375542delCA2577507051ATP2B2c.1170_1171del (p.Tyr391ArgfsTer?)
c.1272_1273del (p.Tyr425ArgfsTer?)
c.1305_1306del (p.Tyr436ArgfsTer?)
c.1212_1213del (p.Tyr405ArgfsTer?)
c.564_565del (p.Tyr189ArgfsTer?)
c.873_874del (p.Tyr292ArgfsTer?)
c.237_238del (p.Tyr80ArgfsTer?)
3g.10375541G>ACA432441251ATP2B2c.1170C>T (p.Val390=)
c.1272C>T (p.Val424=)
c.1305C>T (p.Val435=)
c.1212C>T (p.Val404=)
c.564C>T (p.Val188=)
c.873C>T (p.Val291=)
c.237C>T (p.Val79=)
 ClinVar dbSNP gnomAD v4
3g.10375541G>CCA432441253ATP2B2c.1170C>G (p.Val390=)
c.1272C>G (p.Val424=)
c.1305C>G (p.Val435=)
c.1212C>G (p.Val404=)
c.564C>G (p.Val188=)
c.873C>G (p.Val291=)
c.237C>G (p.Val79=)
3g.10375541G>TCA432441254ATP2B2c.1170C>A (p.Val390=)
c.1272C>A (p.Val424=)
c.1305C>A (p.Val435=)
c.1212C>A (p.Val404=)
c.564C>A (p.Val188=)
c.873C>A (p.Val291=)
c.237C>A (p.Val79=)
3g.10375542A>CCA351784471ATP2B2c.1169T>G (p.Val390Gly)
c.1271T>G (p.Val424Gly)
c.1304T>G (p.Val435Gly)
c.1211T>G (p.Val404Gly)
c.563T>G (p.Val188Gly)
c.872T>G (p.Val291Gly)
c.236T>G (p.Val79Gly)
3g.10375542A>GCA351784472ATP2B2c.1169T>C (p.Val390Ala)
c.1271T>C (p.Val424Ala)
c.1304T>C (p.Val435Ala)
c.1211T>C (p.Val404Ala)
c.563T>C (p.Val188Ala)
c.872T>C (p.Val291Ala)
c.236T>C (p.Val79Ala)
3g.10375542A>TCA351784473ATP2B2c.1169T>A (p.Val390Asp)
c.1271T>A (p.Val424Asp)
c.1304T>A (p.Val435Asp)
c.1211T>A (p.Val404Asp)
c.563T>A (p.Val188Asp)
c.872T>A (p.Val291Asp)
c.236T>A (p.Val79Asp)
3g.10375543C>ACA351784474ATP2B2c.1168G>T (p.Val390Phe)
c.1270G>T (p.Val424Phe)
c.1303G>T (p.Val435Phe)
c.1210G>T (p.Val404Phe)
c.562G>T (p.Val188Phe)
c.871G>T (p.Val291Phe)
c.235G>T (p.Val79Phe)
3g.10375543C=CA1345182432ATP2B2c.1168G= (p.Val390=)
c.1270G= (p.Val424=)
c.1303G= (p.Val435=)
c.1210G= (p.Val404=)
c.562G= (p.Val188=)
c.871G= (p.Val291=)
c.235G= (p.Val79=)
3g.10375543C>GCA351784475ATP2B2c.1168G>C (p.Val390Leu)
c.1270G>C (p.Val424Leu)
c.1303G>C (p.Val435Leu)
c.1210G>C (p.Val404Leu)
c.562G>C (p.Val188Leu)
c.871G>C (p.Val291Leu)
c.235G>C (p.Val79Leu)
3g.10375543C>TCA2253699ATP2B2c.1168G>A (p.Val390Ile)
c.1270G>A (p.Val424Ile)
c.1303G>A (p.Val435Ile)
c.1210G>A (p.Val404Ile)
c.562G>A (p.Val188Ile)
c.871G>A (p.Val291Ile)
c.235G>A (p.Val79Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375545_10375548delCA645516291ATP2B2c.1165_1168del (p.Pro389SerfsTer14)
c.1267_1270del (p.Pro423SerfsTer14)
c.1300_1303del (p.Pro434SerfsTer14)
c.1207_1210del (p.Pro403SerfsTer14)
c.559_562del (p.Pro187SerfsTer14)
c.868_871del (p.Pro290SerfsTer14)
c.232_235del (p.Pro78SerfsTer14)
 COSMIC COSMIC
3g.10375544G>ACA2253700ATP2B2c.1167C>T (p.Pro389=)
c.1269C>T (p.Pro423=)
c.1302C>T (p.Pro434=)
c.1209C>T (p.Pro403=)
c.561C>T (p.Pro187=)
c.870C>T (p.Pro290=)
c.234C>T (p.Pro78=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375544G>CCA432441264ATP2B2c.1167C>G (p.Pro389=)
c.1269C>G (p.Pro423=)
c.1302C>G (p.Pro434=)
c.1209C>G (p.Pro403=)
c.561C>G (p.Pro187=)
c.870C>G (p.Pro290=)
c.234C>G (p.Pro78=)
 gnomAD v4
3g.10375544G=CA1345182436ATP2B2c.1167C= (p.Pro389=)
c.1269C= (p.Pro423=)
c.1302C= (p.Pro434=)
c.1209C= (p.Pro403=)
c.561C= (p.Pro187=)
c.870C= (p.Pro290=)
c.234C= (p.Pro78=)
3g.10375544G>TCA432441266ATP2B2c.1167C>A (p.Pro389=)
c.1269C>A (p.Pro423=)
c.1302C>A (p.Pro434=)
c.1209C>A (p.Pro403=)
c.561C>A (p.Pro187=)
c.870C>A (p.Pro290=)
c.234C>A (p.Pro78=)
 COSMIC COSMIC
3g.10375546delCA432441268ATP2B2c.1167del (p.Val390SerfsTer14)
c.1269del (p.Val424SerfsTer14)
c.1302del (p.Val435SerfsTer14)
c.1209del (p.Val404SerfsTer14)
c.561del (p.Val188SerfsTer14)
c.870del (p.Val291SerfsTer14)
c.234del (p.Val79SerfsTer14)
 COSMIC COSMIC
3g.10375545G>ACA351784476ATP2B2c.1166C>T (p.Pro389Leu)
c.1268C>T (p.Pro423Leu)
c.1301C>T (p.Pro434Leu)
c.1208C>T (p.Pro403Leu)
c.560C>T (p.Pro187Leu)
c.869C>T (p.Pro290Leu)
c.233C>T (p.Pro78Leu)
3g.10375545G>CCA351784477ATP2B2c.1166C>G (p.Pro389Arg)
c.1268C>G (p.Pro423Arg)
c.1301C>G (p.Pro434Arg)
c.1208C>G (p.Pro403Arg)
c.560C>G (p.Pro187Arg)
c.869C>G (p.Pro290Arg)
c.233C>G (p.Pro78Arg)
 COSMIC COSMIC
3g.10375545G>TCA351784478ATP2B2c.1166C>A (p.Pro389His)
c.1268C>A (p.Pro423His)
c.1301C>A (p.Pro434His)
c.1208C>A (p.Pro403His)
c.560C>A (p.Pro187His)
c.869C>A (p.Pro290His)
c.233C>A (p.Pro78His)
3g.10375546G>ACA351784479ATP2B2c.1165C>T (p.Pro389Ser)
c.1267C>T (p.Pro423Ser)
c.1300C>T (p.Pro434Ser)
c.1207C>T (p.Pro403Ser)
c.559C>T (p.Pro187Ser)
c.868C>T (p.Pro290Ser)
c.232C>T (p.Pro78Ser)
3g.10375546G>CCA351784480ATP2B2c.1165C>G (p.Pro389Ala)
c.1267C>G (p.Pro423Ala)
c.1300C>G (p.Pro434Ala)
c.1207C>G (p.Pro403Ala)
c.559C>G (p.Pro187Ala)
c.868C>G (p.Pro290Ala)
c.232C>G (p.Pro78Ala)
3g.10375546G>TCA351784481ATP2B2c.1165C>A (p.Pro389Thr)
c.1267C>A (p.Pro423Thr)
c.1300C>A (p.Pro434Thr)
c.1207C>A (p.Pro403Thr)
c.559C>A (p.Pro187Thr)
c.868C>A (p.Pro290Thr)
c.232C>A (p.Pro78Thr)
 gnomAD v4
3g.10375547C>ACA432441278ATP2B2c.1164G>T (p.Thr388=)
c.1266G>T (p.Thr422=)
c.1299G>T (p.Thr433=)
c.1206G>T (p.Thr402=)
c.558G>T (p.Thr186=)
c.867G>T (p.Thr289=)
c.231G>T (p.Thr77=)
 dbSNP gnomAD v4
3g.10375547C=CA1345182439ATP2B2c.1164G= (p.Thr388=)
c.1266G= (p.Thr422=)
c.1299G= (p.Thr433=)
c.1206G= (p.Thr402=)
c.558G= (p.Thr186=)
c.867G= (p.Thr289=)
c.231G= (p.Thr77=)
3g.10375547C>GCA432441276ATP2B2c.1164G>C (p.Thr388=)
c.1266G>C (p.Thr422=)
c.1299G>C (p.Thr433=)
c.1206G>C (p.Thr402=)
c.558G>C (p.Thr186=)
c.867G>C (p.Thr289=)
c.231G>C (p.Thr77=)
3g.10375547C>TCA70116254ATP2B2c.1164G>A (p.Thr388=)
c.1266G>A (p.Thr422=)
c.1299G>A (p.Thr433=)
c.1206G>A (p.Thr402=)
c.558G>A (p.Thr186=)
c.867G>A (p.Thr289=)
c.231G>A (p.Thr77=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375548G>ACA2253701ATP2B2c.1163C>T (p.Thr388Met)
c.1265C>T (p.Thr422Met)
c.1298C>T (p.Thr433Met)
c.1205C>T (p.Thr402Met)
c.557C>T (p.Thr186Met)
c.866C>T (p.Thr289Met)
c.230C>T (p.Thr77Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375548G>CCA351784482ATP2B2c.1163C>G (p.Thr388Arg)
c.1265C>G (p.Thr422Arg)
c.1298C>G (p.Thr433Arg)
c.1205C>G (p.Thr402Arg)
c.557C>G (p.Thr186Arg)
c.866C>G (p.Thr289Arg)
c.230C>G (p.Thr77Arg)
3g.10375548G=CA1345182443ATP2B2c.1163C= (p.Thr388=)
c.1265C= (p.Thr422=)
c.1298C= (p.Thr433=)
c.1205C= (p.Thr402=)
c.557C= (p.Thr186=)
c.866C= (p.Thr289=)
c.230C= (p.Thr77=)
3g.10375548G>TCA351784483ATP2B2c.1163C>A (p.Thr388Lys)
c.1265C>A (p.Thr422Lys)
c.1298C>A (p.Thr433Lys)
c.1205C>A (p.Thr402Lys)
c.557C>A (p.Thr186Lys)
c.866C>A (p.Thr289Lys)
c.230C>A (p.Thr77Lys)
 gnomAD v4
3g.10375549T>ACA351784484ATP2B2c.1162A>T (p.Thr388Ser)
c.1264A>T (p.Thr422Ser)
c.1297A>T (p.Thr433Ser)
c.1204A>T (p.Thr402Ser)
c.556A>T (p.Thr186Ser)
c.865A>T (p.Thr289Ser)
c.229A>T (p.Thr77Ser)
3g.10375549T>CCA70116272ATP2B2c.1162A>G (p.Thr388Ala)
c.1264A>G (p.Thr422Ala)
c.1297A>G (p.Thr433Ala)
c.1204A>G (p.Thr402Ala)
c.556A>G (p.Thr186Ala)
c.865A>G (p.Thr289Ala)
c.229A>G (p.Thr77Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.10375549T>GCA351784485ATP2B2c.1162A>C (p.Thr388Pro)
c.1264A>C (p.Thr422Pro)
c.1297A>C (p.Thr433Pro)
c.1204A>C (p.Thr402Pro)
c.556A>C (p.Thr186Pro)
c.865A>C (p.Thr289Pro)
c.229A>C (p.Thr77Pro)
3g.10375549T=CA1345182448ATP2B2c.1162A= (p.Thr388=)
c.1264A= (p.Thr422=)
c.1297A= (p.Thr433=)
c.1204A= (p.Thr402=)
c.556A= (p.Thr186=)
c.865A= (p.Thr289=)
c.229A= (p.Thr77=)
3g.10375550G>ACA432441286ATP2B2c.1161C>T (p.Cys387=)
c.1263C>T (p.Cys421=)
c.1296C>T (p.Cys432=)
c.1203C>T (p.Cys401=)
c.555C>T (p.Cys185=)
c.864C>T (p.Cys288=)
c.228C>T (p.Cys76=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375550G>CCA351784487ATP2B2c.1161C>G (p.Cys387Trp)
c.1263C>G (p.Cys421Trp)
c.1296C>G (p.Cys432Trp)
c.1203C>G (p.Cys401Trp)
c.555C>G (p.Cys185Trp)
c.864C>G (p.Cys288Trp)
c.228C>G (p.Cys76Trp)
3g.10375550G=CA1345182450ATP2B2c.1161C= (p.Cys387=)
c.1263C= (p.Cys421=)
c.1296C= (p.Cys432=)
c.1203C= (p.Cys401=)
c.555C= (p.Cys185=)
c.864C= (p.Cys288=)
c.228C= (p.Cys76=)
3g.10375550G>TCA351784486ATP2B2c.1161C>A (p.Cys387Ter)
c.1263C>A (p.Cys421Ter)
c.1296C>A (p.Cys432Ter)
c.1203C>A (p.Cys401Ter)
c.555C>A (p.Cys185Ter)
c.864C>A (p.Cys288Ter)
c.228C>A (p.Cys76Ter)
3g.10375550_10375551delCA645516292ATP2B2c.1160_1161del (p.Cys387TyrfsTer?)
c.1262_1263del (p.Cys421TyrfsTer?)
c.1295_1296del (p.Cys432TyrfsTer?)
c.1202_1203del (p.Cys401TyrfsTer?)
c.554_555del (p.Cys185TyrfsTer?)
c.863_864del (p.Cys288TyrfsTer?)
c.227_228del (p.Cys76TyrfsTer?)
 COSMIC COSMIC
3g.10375551C>ACA351784488ATP2B2c.1160G>T (p.Cys387Phe)
c.1262G>T (p.Cys421Phe)
c.1295G>T (p.Cys432Phe)
c.1202G>T (p.Cys401Phe)
c.554G>T (p.Cys185Phe)
c.863G>T (p.Cys288Phe)
c.227G>T (p.Cys76Phe)
3g.10375551C=CA1345182453ATP2B2c.1160G= (p.Cys387=)
c.1262G= (p.Cys421=)
c.1295G= (p.Cys432=)
c.1202G= (p.Cys401=)
c.554G= (p.Cys185=)
c.863G= (p.Cys288=)
c.227G= (p.Cys76=)
3g.10375551C>GCA351784489ATP2B2c.1160G>C (p.Cys387Ser)
c.1262G>C (p.Cys421Ser)
c.1295G>C (p.Cys432Ser)
c.1202G>C (p.Cys401Ser)
c.554G>C (p.Cys185Ser)
c.863G>C (p.Cys288Ser)
c.227G>C (p.Cys76Ser)
3g.10375551C>TCA2253702ATP2B2c.1160G>A (p.Cys387Tyr)
c.1262G>A (p.Cys421Tyr)
c.1295G>A (p.Cys432Tyr)
c.1202G>A (p.Cys401Tyr)
c.554G>A (p.Cys185Tyr)
c.863G>A (p.Cys288Tyr)
c.227G>A (p.Cys76Tyr)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
3g.10375552A=CA1345182455ATP2B2c.1159T= (p.Cys387=)
c.1261T= (p.Cys421=)
c.1294T= (p.Cys432=)
c.1201T= (p.Cys401=)
c.553T= (p.Cys185=)
c.862T= (p.Cys288=)
c.226T= (p.Cys76=)
3g.10375552A>CCA351784490ATP2B2c.1159T>G (p.Cys387Gly)
c.1261T>G (p.Cys421Gly)
c.1294T>G (p.Cys432Gly)
c.1201T>G (p.Cys401Gly)
c.553T>G (p.Cys185Gly)
c.862T>G (p.Cys288Gly)
c.226T>G (p.Cys76Gly)
 dbSNP
3g.10375552A>GCA351784491ATP2B2c.1159T>C (p.Cys387Arg)
c.1261T>C (p.Cys421Arg)
c.1294T>C (p.Cys432Arg)
c.1201T>C (p.Cys401Arg)
c.553T>C (p.Cys185Arg)
c.862T>C (p.Cys288Arg)
c.226T>C (p.Cys76Arg)
3g.10375552A>TCA351784492ATP2B2c.1159T>A (p.Cys387Ser)
c.1261T>A (p.Cys421Ser)
c.1294T>A (p.Cys432Ser)
c.1201T>A (p.Cys401Ser)
c.553T>A (p.Cys185Ser)
c.862T>A (p.Cys288Ser)
c.226T>A (p.Cys76Ser)
3g.10375553C>ACA351784493ATP2B2c.1158G>T (p.Glu386Asp)
c.1260G>T (p.Glu420Asp)
c.1293G>T (p.Glu431Asp)
c.1200G>T (p.Glu400Asp)
c.552G>T (p.Glu184Asp)
c.861G>T (p.Glu287Asp)
c.225G>T (p.Glu75Asp)
3g.10375553C=CA1345182458ATP2B2c.1158G= (p.Glu386=)
c.1260G= (p.Glu420=)
c.1293G= (p.Glu431=)
c.1200G= (p.Glu400=)
c.552G= (p.Glu184=)
c.861G= (p.Glu287=)
c.225G= (p.Glu75=)
3g.10375553C>GCA351784494ATP2B2c.1158G>C (p.Glu386Asp)
c.1260G>C (p.Glu420Asp)
c.1293G>C (p.Glu431Asp)
c.1200G>C (p.Glu400Asp)
c.552G>C (p.Glu184Asp)
c.861G>C (p.Glu287Asp)
c.225G>C (p.Glu75Asp)
3g.10375553C>TCA2253703ATP2B2c.1158G>A (p.Glu386=)
c.1260G>A (p.Glu420=)
c.1293G>A (p.Glu431=)
c.1200G>A (p.Glu400=)
c.552G>A (p.Glu184=)
c.861G>A (p.Glu287=)
c.225G>A (p.Glu75=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375554T>ACA351784495ATP2B2c.1157A>T (p.Glu386Val)
c.1259A>T (p.Glu420Val)
c.1292A>T (p.Glu431Val)
c.1199A>T (p.Glu400Val)
c.551A>T (p.Glu184Val)
c.860A>T (p.Glu287Val)
c.224A>T (p.Glu75Val)
3g.10375554T>CCA351784496ATP2B2c.1157A>G (p.Glu386Gly)
c.1259A>G (p.Glu420Gly)
c.1292A>G (p.Glu431Gly)
c.1199A>G (p.Glu400Gly)
c.551A>G (p.Glu184Gly)
c.860A>G (p.Glu287Gly)
c.224A>G (p.Glu75Gly)
3g.10375554T>GCA351784497ATP2B2c.1157A>C (p.Glu386Ala)
c.1259A>C (p.Glu420Ala)
c.1292A>C (p.Glu431Ala)
c.1199A>C (p.Glu400Ala)
c.551A>C (p.Glu184Ala)
c.860A>C (p.Glu287Ala)
c.224A>C (p.Glu75Ala)
3g.10375555C>ACA351784500ATP2B2c.1156G>T (p.Glu386Ter)
c.1258G>T (p.Glu420Ter)
c.1291G>T (p.Glu431Ter)
c.1198G>T (p.Glu400Ter)
c.550G>T (p.Glu184Ter)
c.859G>T (p.Glu287Ter)
c.223G>T (p.Glu75Ter)
3g.10375555C>GCA351784499ATP2B2c.1156G>C (p.Glu386Gln)
c.1258G>C (p.Glu420Gln)
c.1291G>C (p.Glu431Gln)
c.1198G>C (p.Glu400Gln)
c.550G>C (p.Glu184Gln)
c.859G>C (p.Glu287Gln)
c.223G>C (p.Glu75Gln)
3g.10375555C>TCA351784498ATP2B2c.1156G>A (p.Glu386Lys)
c.1258G>A (p.Glu420Lys)
c.1291G>A (p.Glu431Lys)
c.1198G>A (p.Glu400Lys)
c.550G>A (p.Glu184Lys)
c.859G>A (p.Glu287Lys)
c.223G>A (p.Glu75Lys)
3g.10375556A>CCA432441791ATP2B2c.1155T>G (p.Pro385=)
c.1257T>G (p.Pro419=)
c.1290T>G (p.Pro430=)
c.1197T>G (p.Pro399=)
c.549T>G (p.Pro183=)
c.858T>G (p.Pro286=)
c.222T>G (p.Pro74=)
3g.10375556A>GCA432441792ATP2B2c.1155T>C (p.Pro385=)
c.1257T>C (p.Pro419=)
c.1290T>C (p.Pro430=)
c.1197T>C (p.Pro399=)
c.549T>C (p.Pro183=)
c.858T>C (p.Pro286=)
c.222T>C (p.Pro74=)
3g.10375556A>TCA432441793ATP2B2c.1155T>A (p.Pro385=)
c.1257T>A (p.Pro419=)
c.1290T>A (p.Pro430=)
c.1197T>A (p.Pro399=)
c.549T>A (p.Pro183=)
c.858T>A (p.Pro286=)
c.222T>A (p.Pro74=)
3g.10375557G>ACA351784501ATP2B2c.1154C>T (p.Pro385Leu)
c.1256C>T (p.Pro419Leu)
c.1289C>T (p.Pro430Leu)
c.1196C>T (p.Pro399Leu)
c.548C>T (p.Pro183Leu)
c.857C>T (p.Pro286Leu)
c.221C>T (p.Pro74Leu)
3g.10375557G>CCA351784503ATP2B2c.1154C>G (p.Pro385Arg)
c.1256C>G (p.Pro419Arg)
c.1289C>G (p.Pro430Arg)
c.1196C>G (p.Pro399Arg)
c.548C>G (p.Pro183Arg)
c.857C>G (p.Pro286Arg)
c.221C>G (p.Pro74Arg)
3g.10375557G>TCA351784502ATP2B2c.1154C>A (p.Pro385His)
c.1256C>A (p.Pro419His)
c.1289C>A (p.Pro430His)
c.1196C>A (p.Pro399His)
c.548C>A (p.Pro183His)
c.857C>A (p.Pro286His)
c.221C>A (p.Pro74His)
3g.10375558G>ACA351784504ATP2B2c.1153C>T (p.Pro385Ser)
c.1255C>T (p.Pro419Ser)
c.1288C>T (p.Pro430Ser)
c.1195C>T (p.Pro399Ser)
c.547C>T (p.Pro183Ser)
c.856C>T (p.Pro286Ser)
c.220C>T (p.Pro74Ser)
 gnomAD v4
3g.10375558G>CCA351784506ATP2B2c.1153C>G (p.Pro385Ala)
c.1255C>G (p.Pro419Ala)
c.1288C>G (p.Pro430Ala)
c.1195C>G (p.Pro399Ala)
c.547C>G (p.Pro183Ala)
c.856C>G (p.Pro286Ala)
c.220C>G (p.Pro74Ala)
3g.10375558G>TCA351784505ATP2B2c.1153C>A (p.Pro385Thr)
c.1255C>A (p.Pro419Thr)
c.1288C>A (p.Pro430Thr)
c.1195C>A (p.Pro399Thr)
c.547C>A (p.Pro183Thr)
c.856C>A (p.Pro286Thr)
c.220C>A (p.Pro74Thr)
3g.10375559C>ACA432441799ATP2B2c.1152G>T (p.Leu384=)
c.1254G>T (p.Leu418=)
c.1287G>T (p.Leu429=)
c.1194G>T (p.Leu398=)
c.546G>T (p.Leu182=)
c.855G>T (p.Leu285=)
c.219G>T (p.Leu73=)
3g.10375559C>GCA432441801ATP2B2c.1152G>C (p.Leu384=)
c.1254G>C (p.Leu418=)
c.1287G>C (p.Leu429=)
c.1194G>C (p.Leu398=)
c.546G>C (p.Leu182=)
c.855G>C (p.Leu285=)
c.219G>C (p.Leu73=)
3g.10375559C>TCA432441803ATP2B2c.1152G>A (p.Leu384=)
c.1254G>A (p.Leu418=)
c.1287G>A (p.Leu429=)
c.1194G>A (p.Leu398=)
c.546G>A (p.Leu182=)
c.855G>A (p.Leu285=)
c.219G>A (p.Leu73=)
3g.10375560A>CCA351784507ATP2B2c.1151T>G (p.Leu384Arg)
c.1253T>G (p.Leu418Arg)
c.1286T>G (p.Leu429Arg)
c.1193T>G (p.Leu398Arg)
c.545T>G (p.Leu182Arg)
c.854T>G (p.Leu285Arg)
c.218T>G (p.Leu73Arg)
3g.10375560A>GCA351784508ATP2B2c.1151T>C (p.Leu384Pro)
c.1253T>C (p.Leu418Pro)
c.1286T>C (p.Leu429Pro)
c.1193T>C (p.Leu398Pro)
c.545T>C (p.Leu182Pro)
c.854T>C (p.Leu285Pro)
c.218T>C (p.Leu73Pro)
3g.10375560A>TCA351784509ATP2B2c.1151T>A (p.Leu384Gln)
c.1253T>A (p.Leu418Gln)
c.1286T>A (p.Leu429Gln)
c.1193T>A (p.Leu398Gln)
c.545T>A (p.Leu182Gln)
c.854T>A (p.Leu285Gln)
c.218T>A (p.Leu73Gln)
3g.10375561G>ACA432441807ATP2B2c.1150C>T (p.Leu384=)
c.1252C>T (p.Leu418=)
c.1285C>T (p.Leu429=)
c.1192C>T (p.Leu398=)
c.544C>T (p.Leu182=)
c.853C>T (p.Leu285=)
c.217C>T (p.Leu73=)
3g.10375561G>CCA351784510ATP2B2c.1150C>G (p.Leu384Val)
c.1252C>G (p.Leu418Val)
c.1285C>G (p.Leu429Val)
c.1192C>G (p.Leu398Val)
c.544C>G (p.Leu182Val)
c.853C>G (p.Leu285Val)
c.217C>G (p.Leu73Val)
 ClinVar
3g.10375561G>TCA351784511ATP2B2c.1150C>A (p.Leu384Met)
c.1252C>A (p.Leu418Met)
c.1285C>A (p.Leu429Met)
c.1192C>A (p.Leu398Met)
c.544C>A (p.Leu182Met)
c.853C>A (p.Leu285Met)
c.217C>A (p.Leu73Met)
3g.10375562C>ACA351784512ATP2B2c.1149G>T (p.Trp383Cys)
c.1251G>T (p.Trp417Cys)
c.1284G>T (p.Trp428Cys)
c.1191G>T (p.Trp397Cys)
c.543G>T (p.Trp181Cys)
c.852G>T (p.Trp284Cys)
c.216G>T (p.Trp72Cys)
3g.10375562C>GCA351784513ATP2B2c.1149G>C (p.Trp383Cys)
c.1251G>C (p.Trp417Cys)
c.1284G>C (p.Trp428Cys)
c.1191G>C (p.Trp397Cys)
c.543G>C (p.Trp181Cys)
c.852G>C (p.Trp284Cys)
c.216G>C (p.Trp72Cys)
3g.10375562C>TCA351784514ATP2B2c.1149G>A (p.Trp383Ter)
c.1251G>A (p.Trp417Ter)
c.1284G>A (p.Trp428Ter)
c.1191G>A (p.Trp397Ter)
c.543G>A (p.Trp181Ter)
c.852G>A (p.Trp284Ter)
c.216G>A (p.Trp72Ter)
3g.10375563C>ACA351784515ATP2B2c.1148G>T (p.Trp383Leu)
c.1250G>T (p.Trp417Leu)
c.1283G>T (p.Trp428Leu)
c.1190G>T (p.Trp397Leu)
c.542G>T (p.Trp181Leu)
c.851G>T (p.Trp284Leu)
c.215G>T (p.Trp72Leu)
3g.10375563C>GCA351784516ATP2B2c.1148G>C (p.Trp383Ser)
c.1250G>C (p.Trp417Ser)
c.1283G>C (p.Trp428Ser)
c.1190G>C (p.Trp397Ser)
c.542G>C (p.Trp181Ser)
c.851G>C (p.Trp284Ser)
c.215G>C (p.Trp72Ser)
3g.10375563C>TCA351784517ATP2B2c.1148G>A (p.Trp383Ter)
c.1250G>A (p.Trp417Ter)
c.1283G>A (p.Trp428Ter)
c.1190G>A (p.Trp397Ter)
c.542G>A (p.Trp181Ter)
c.851G>A (p.Trp284Ter)
c.215G>A (p.Trp72Ter)
3g.10375564A>CCA351784518ATP2B2c.1147T>G (p.Trp383Gly)
c.1249T>G (p.Trp417Gly)
c.1282T>G (p.Trp428Gly)
c.1189T>G (p.Trp397Gly)
c.541T>G (p.Trp181Gly)
c.850T>G (p.Trp284Gly)
c.214T>G (p.Trp72Gly)
3g.10375564A>GCA351784520ATP2B2c.1147T>C (p.Trp383Arg)
c.1249T>C (p.Trp417Arg)
c.1282T>C (p.Trp428Arg)
c.1189T>C (p.Trp397Arg)
c.541T>C (p.Trp181Arg)
c.850T>C (p.Trp284Arg)
c.214T>C (p.Trp72Arg)
3g.10375564A>TCA351784519ATP2B2c.1147T>A (p.Trp383Arg)
c.1249T>A (p.Trp417Arg)
c.1282T>A (p.Trp428Arg)
c.1189T>A (p.Trp397Arg)
c.541T>A (p.Trp181Arg)
c.850T>A (p.Trp284Arg)
c.214T>A (p.Trp72Arg)
3g.10375565C>ACA432441817ATP2B2c.1146G>T (p.Pro382=)
c.1248G>T (p.Pro416=)
c.1281G>T (p.Pro427=)
c.1188G>T (p.Pro396=)
c.540G>T (p.Pro180=)
c.849G>T (p.Pro283=)
c.213G>T (p.Pro71=)
3g.10375565C=CA1345182460ATP2B2c.1146G= (p.Pro382=)
c.1248G= (p.Pro416=)
c.1281G= (p.Pro427=)
c.1188G= (p.Pro396=)
c.540G= (p.Pro180=)
c.849G= (p.Pro283=)
c.213G= (p.Pro71=)
3g.10375565C>GCA432441818ATP2B2c.1146G>C (p.Pro382=)
c.1248G>C (p.Pro416=)
c.1281G>C (p.Pro427=)
c.1188G>C (p.Pro396=)
c.540G>C (p.Pro180=)
c.849G>C (p.Pro283=)
c.213G>C (p.Pro71=)
3g.10375565C>TCA2253704ATP2B2c.1146G>A (p.Pro382=)
c.1248G>A (p.Pro416=)
c.1281G>A (p.Pro427=)
c.1188G>A (p.Pro396=)
c.540G>A (p.Pro180=)
c.849G>A (p.Pro283=)
c.213G>A (p.Pro71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375566G>ACA2253705ATP2B2c.1145C>T (p.Pro382Leu)
c.1247C>T (p.Pro416Leu)
c.1280C>T (p.Pro427Leu)
c.1187C>T (p.Pro396Leu)
c.539C>T (p.Pro180Leu)
c.848C>T (p.Pro283Leu)
c.212C>T (p.Pro71Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375566G>CCA351784521ATP2B2c.1145C>G (p.Pro382Arg)
c.1247C>G (p.Pro416Arg)
c.1280C>G (p.Pro427Arg)
c.1187C>G (p.Pro396Arg)
c.539C>G (p.Pro180Arg)
c.848C>G (p.Pro283Arg)
c.212C>G (p.Pro71Arg)
3g.10375566G=CA1345182464ATP2B2c.1145C= (p.Pro382=)
c.1247C= (p.Pro416=)
c.1280C= (p.Pro427=)
c.1187C= (p.Pro396=)
c.539C= (p.Pro180=)
c.848C= (p.Pro283=)
c.212C= (p.Pro71=)
3g.10375566G>TCA2253706ATP2B2c.1145C>A (p.Pro382Gln)
c.1247C>A (p.Pro416Gln)
c.1280C>A (p.Pro427Gln)
c.1187C>A (p.Pro396Gln)
c.539C>A (p.Pro180Gln)
c.848C>A (p.Pro283Gln)
c.212C>A (p.Pro71Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375567G>ACA2253707ATP2B2c.1144C>T (p.Pro382Ser)
c.1246C>T (p.Pro416Ser)
c.1279C>T (p.Pro427Ser)
c.1186C>T (p.Pro396Ser)
c.538C>T (p.Pro180Ser)
c.847C>T (p.Pro283Ser)
c.211C>T (p.Pro71Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375567G>CCA351784522ATP2B2c.1144C>G (p.Pro382Ala)
c.1246C>G (p.Pro416Ala)
c.1279C>G (p.Pro427Ala)
c.1186C>G (p.Pro396Ala)
c.538C>G (p.Pro180Ala)
c.847C>G (p.Pro283Ala)
c.211C>G (p.Pro71Ala)
3g.10375567G=CA1345182466ATP2B2c.1144C= (p.Pro382=)
c.1246C= (p.Pro416=)
c.1279C= (p.Pro427=)
c.1186C= (p.Pro396=)
c.538C= (p.Pro180=)
c.847C= (p.Pro283=)
c.211C= (p.Pro71=)
3g.10375567G>TCA351784523ATP2B2c.1144C>A (p.Pro382Thr)
c.1246C>A (p.Pro416Thr)
c.1279C>A (p.Pro427Thr)
c.1186C>A (p.Pro396Thr)
c.538C>A (p.Pro180Thr)
c.847C>A (p.Pro283Thr)
c.211C>A (p.Pro71Thr)
3g.10375568C>ACA351784524ATP2B2c.1143G>T (p.Lys381Asn)
c.1245G>T (p.Lys415Asn)
c.1278G>T (p.Lys426Asn)
c.1185G>T (p.Lys395Asn)
c.537G>T (p.Lys179Asn)
c.846G>T (p.Lys282Asn)
c.210G>T (p.Lys70Asn)
3g.10375568C>GCA351784525ATP2B2c.1143G>C (p.Lys381Asn)
c.1245G>C (p.Lys415Asn)
c.1278G>C (p.Lys426Asn)
c.1185G>C (p.Lys395Asn)
c.537G>C (p.Lys179Asn)
c.846G>C (p.Lys282Asn)
c.210G>C (p.Lys70Asn)
3g.10375568C>TCA432441827ATP2B2c.1143G>A (p.Lys381=)
c.1245G>A (p.Lys415=)
c.1278G>A (p.Lys426=)
c.1185G>A (p.Lys395=)
c.537G>A (p.Lys179=)
c.846G>A (p.Lys282=)
c.210G>A (p.Lys70=)
3g.10375569T>ACA351784527ATP2B2c.1142A>T (p.Lys381Met)
c.1244A>T (p.Lys415Met)
c.1277A>T (p.Lys426Met)
c.1184A>T (p.Lys395Met)
c.536A>T (p.Lys179Met)
c.845A>T (p.Lys282Met)
c.209A>T (p.Lys70Met)
3g.10375569T>CCA351784528ATP2B2c.1142A>G (p.Lys381Arg)
c.1244A>G (p.Lys415Arg)
c.1277A>G (p.Lys426Arg)
c.1184A>G (p.Lys395Arg)
c.536A>G (p.Lys179Arg)
c.845A>G (p.Lys282Arg)
c.209A>G (p.Lys70Arg)
3g.10375569T>GCA351784526ATP2B2c.1142A>C (p.Lys381Thr)
c.1244A>C (p.Lys415Thr)
c.1277A>C (p.Lys426Thr)
c.1184A>C (p.Lys395Thr)
c.536A>C (p.Lys179Thr)
c.845A>C (p.Lys282Thr)
c.209A>C (p.Lys70Thr)
3g.10375570T>ACA351784529ATP2B2c.1141A>T (p.Lys381Ter)
c.1243A>T (p.Lys415Ter)
c.1276A>T (p.Lys426Ter)
c.1183A>T (p.Lys395Ter)
c.535A>T (p.Lys179Ter)
c.844A>T (p.Lys282Ter)
c.208A>T (p.Lys70Ter)
3g.10375570T>CCA351784530ATP2B2c.1141A>G (p.Lys381Glu)
c.1243A>G (p.Lys415Glu)
c.1276A>G (p.Lys426Glu)
c.1183A>G (p.Lys395Glu)
c.535A>G (p.Lys179Glu)
c.844A>G (p.Lys282Glu)
c.208A>G (p.Lys70Glu)
3g.10375570T>GCA351784531ATP2B2c.1141A>C (p.Lys381Gln)
c.1243A>C (p.Lys415Gln)
c.1276A>C (p.Lys426Gln)
c.1183A>C (p.Lys395Gln)
c.535A>C (p.Lys179Gln)
c.844A>C (p.Lys282Gln)
c.208A>C (p.Lys70Gln)
3g.10375571C>ACA351784532ATP2B2c.1140G>T (p.Lys380Asn)
c.1242G>T (p.Lys414Asn)
c.1275G>T (p.Lys425Asn)
c.1182G>T (p.Lys394Asn)
c.534G>T (p.Lys178Asn)
c.843G>T (p.Lys281Asn)
c.207G>T (p.Lys69Asn)
3g.10375571C>GCA351784533ATP2B2c.1140G>C (p.Lys380Asn)
c.1242G>C (p.Lys414Asn)
c.1275G>C (p.Lys425Asn)
c.1182G>C (p.Lys394Asn)
c.534G>C (p.Lys178Asn)
c.843G>C (p.Lys281Asn)
c.207G>C (p.Lys69Asn)
3g.10375571C>TCA432441835ATP2B2c.1140G>A (p.Lys380=)
c.1242G>A (p.Lys414=)
c.1275G>A (p.Lys425=)
c.1182G>A (p.Lys394=)
c.534G>A (p.Lys178=)
c.843G>A (p.Lys281=)
c.207G>A (p.Lys69=)
3g.10375572T>ACA351784536ATP2B2c.1139A>T (p.Lys380Met)
c.1241A>T (p.Lys414Met)
c.1274A>T (p.Lys425Met)
c.1181A>T (p.Lys394Met)
c.533A>T (p.Lys178Met)
c.842A>T (p.Lys281Met)
c.206A>T (p.Lys69Met)
3g.10375572T>CCA351784534ATP2B2c.1139A>G (p.Lys380Arg)
c.1241A>G (p.Lys414Arg)
c.1274A>G (p.Lys425Arg)
c.1181A>G (p.Lys394Arg)
c.533A>G (p.Lys178Arg)
c.842A>G (p.Lys281Arg)
c.206A>G (p.Lys69Arg)
 gnomAD v4
3g.10375572T>GCA351784535ATP2B2c.1139A>C (p.Lys380Thr)
c.1241A>C (p.Lys414Thr)
c.1274A>C (p.Lys425Thr)
c.1181A>C (p.Lys394Thr)
c.533A>C (p.Lys178Thr)
c.842A>C (p.Lys281Thr)
c.206A>C (p.Lys69Thr)
3g.10375573T>ACA351784537ATP2B2c.1138A>T (p.Lys380Ter)
c.1240A>T (p.Lys414Ter)
c.1273A>T (p.Lys425Ter)
c.1180A>T (p.Lys394Ter)
c.532A>T (p.Lys178Ter)
c.841A>T (p.Lys281Ter)
c.205A>T (p.Lys69Ter)
3g.10375573T>CCA351784538ATP2B2c.1138A>G (p.Lys380Glu)
c.1240A>G (p.Lys414Glu)
c.1273A>G (p.Lys425Glu)
c.1180A>G (p.Lys394Glu)
c.532A>G (p.Lys178Glu)
c.841A>G (p.Lys281Glu)
c.205A>G (p.Lys69Glu)
3g.10375573T>GCA351784539ATP2B2c.1138A>C (p.Lys380Gln)
c.1240A>C (p.Lys414Gln)
c.1273A>C (p.Lys425Gln)
c.1180A>C (p.Lys394Gln)
c.532A>C (p.Lys178Gln)
c.841A>C (p.Lys281Gln)
c.205A>C (p.Lys69Gln)
 dbSNP
3g.10375573T=CA1345182469ATP2B2c.1138A= (p.Lys380=)
c.1240A= (p.Lys414=)
c.1273A= (p.Lys425=)
c.1180A= (p.Lys394=)
c.532A= (p.Lys178=)
c.841A= (p.Lys281=)
c.205A= (p.Lys69=)
3g.10375574G>ACA70116339ATP2B2c.1137C>T (p.Asn379=)
c.1239C>T (p.Asn413=)
c.1272C>T (p.Asn424=)
c.1179C>T (p.Asn393=)
c.531C>T (p.Asn177=)
c.840C>T (p.Asn280=)
c.204C>T (p.Asn68=)
 dbSNP gnomAD v4
3g.10375574G>CCA351784540ATP2B2c.1137C>G (p.Asn379Lys)
c.1239C>G (p.Asn413Lys)
c.1272C>G (p.Asn424Lys)
c.1179C>G (p.Asn393Lys)
c.531C>G (p.Asn177Lys)
c.840C>G (p.Asn280Lys)
c.204C>G (p.Asn68Lys)
3g.10375574G=CA1345182470ATP2B2c.1137C= (p.Asn379=)
c.1239C= (p.Asn413=)
c.1272C= (p.Asn424=)
c.1179C= (p.Asn393=)
c.531C= (p.Asn177=)
c.840C= (p.Asn280=)
c.204C= (p.Asn68=)
3g.10375574G>TCA351784541ATP2B2c.1137C>A (p.Asn379Lys)
c.1239C>A (p.Asn413Lys)
c.1272C>A (p.Asn424Lys)
c.1179C>A (p.Asn393Lys)
c.531C>A (p.Asn177Lys)
c.840C>A (p.Asn280Lys)
c.204C>A (p.Asn68Lys)
 dbSNP
3g.10375575T>ACA351784542ATP2B2c.1136A>T (p.Asn379Ile)
c.1238A>T (p.Asn413Ile)
c.1271A>T (p.Asn424Ile)
c.1178A>T (p.Asn393Ile)
c.530A>T (p.Asn177Ile)
c.839A>T (p.Asn280Ile)
c.203A>T (p.Asn68Ile)
3g.10375575T>CCA351784544ATP2B2c.1136A>G (p.Asn379Ser)
c.1238A>G (p.Asn413Ser)
c.1271A>G (p.Asn424Ser)
c.1178A>G (p.Asn393Ser)
c.530A>G (p.Asn177Ser)
c.839A>G (p.Asn280Ser)
c.203A>G (p.Asn68Ser)
 gnomAD v4
3g.10375575T>GCA351784543ATP2B2c.1136A>C (p.Asn379Thr)
c.1238A>C (p.Asn413Thr)
c.1271A>C (p.Asn424Thr)
c.1178A>C (p.Asn393Thr)
c.530A>C (p.Asn177Thr)
c.839A>C (p.Asn280Thr)
c.203A>C (p.Asn68Thr)
3g.10375576T>ACA351784545ATP2B2c.1135A>T (p.Asn379Tyr)
c.1237A>T (p.Asn413Tyr)
c.1270A>T (p.Asn424Tyr)
c.1177A>T (p.Asn393Tyr)
c.529A>T (p.Asn177Tyr)
c.838A>T (p.Asn280Tyr)
c.202A>T (p.Asn68Tyr)
3g.10375576T>CCA351784546ATP2B2c.1135A>G (p.Asn379Asp)
c.1237A>G (p.Asn413Asp)
c.1270A>G (p.Asn424Asp)
c.1177A>G (p.Asn393Asp)
c.529A>G (p.Asn177Asp)
c.838A>G (p.Asn280Asp)
c.202A>G (p.Asn68Asp)
3g.10375576T>GCA351784547ATP2B2c.1135A>C (p.Asn379His)
c.1237A>C (p.Asn413His)
c.1270A>C (p.Asn424His)
c.1177A>C (p.Asn393His)
c.529A>C (p.Asn177His)
c.838A>C (p.Asn280His)
c.202A>C (p.Asn68His)
3g.10375577G>ACA432441849ATP2B2c.1134C>T (p.Val378=)
c.1236C>T (p.Val412=)
c.1269C>T (p.Val423=)
c.1176C>T (p.Val392=)
c.528C>T (p.Val176=)
c.837C>T (p.Val279=)
c.201C>T (p.Val67=)
 gnomAD v4
3g.10375577G>CCA432441851ATP2B2c.1134C>G (p.Val378=)
c.1236C>G (p.Val412=)
c.1269C>G (p.Val423=)
c.1176C>G (p.Val392=)
c.528C>G (p.Val176=)
c.837C>G (p.Val279=)
c.201C>G (p.Val67=)
3g.10375577G>TCA432441852ATP2B2c.1134C>A (p.Val378=)
c.1236C>A (p.Val412=)
c.1269C>A (p.Val423=)
c.1176C>A (p.Val392=)
c.528C>A (p.Val176=)
c.837C>A (p.Val279=)
c.201C>A (p.Val67=)
3g.10375578A>CCA351784548ATP2B2c.1133T>G (p.Val378Gly)
c.1235T>G (p.Val412Gly)
c.1268T>G (p.Val423Gly)
c.1175T>G (p.Val392Gly)
c.527T>G (p.Val176Gly)
c.836T>G (p.Val279Gly)
c.200T>G (p.Val67Gly)
3g.10375578A>GCA351784549ATP2B2c.1133T>C (p.Val378Ala)
c.1235T>C (p.Val412Ala)
c.1268T>C (p.Val423Ala)
c.1175T>C (p.Val392Ala)
c.527T>C (p.Val176Ala)
c.836T>C (p.Val279Ala)
c.200T>C (p.Val67Ala)
3g.10375578A>TCA351784550ATP2B2c.1133T>A (p.Val378Asp)
c.1235T>A (p.Val412Asp)
c.1268T>A (p.Val423Asp)
c.1175T>A (p.Val392Asp)
c.527T>A (p.Val176Asp)
c.836T>A (p.Val279Asp)
c.200T>A (p.Val67Asp)
3g.10375579C>ACA351784551ATP2B2c.1132G>T (p.Val378Phe)
c.1234G>T (p.Val412Phe)
c.1267G>T (p.Val423Phe)
c.1174G>T (p.Val392Phe)
c.526G>T (p.Val176Phe)
c.835G>T (p.Val279Phe)
c.199G>T (p.Val67Phe)
3g.10375579C>GCA351784552ATP2B2c.1132G>C (p.Val378Leu)
c.1234G>C (p.Val412Leu)
c.1267G>C (p.Val423Leu)
c.1174G>C (p.Val392Leu)
c.526G>C (p.Val176Leu)
c.835G>C (p.Val279Leu)
c.199G>C (p.Val67Leu)
3g.10375579C>TCA351784553ATP2B2c.1132G>A (p.Val378Ile)
c.1234G>A (p.Val412Ile)
c.1267G>A (p.Val423Ile)
c.1174G>A (p.Val392Ile)
c.526G>A (p.Val176Ile)
c.835G>A (p.Val279Ile)
c.199G>A (p.Val67Ile)
3g.10375580C>ACA432441858ATP2B2c.1131G>T (p.Val377=)
c.1233G>T (p.Val411=)
c.1266G>T (p.Val422=)
c.1173G>T (p.Val391=)
c.525G>T (p.Val175=)
c.834G>T (p.Val278=)
c.198G>T (p.Val66=)
3g.10375580C>GCA432441862ATP2B2c.1131G>C (p.Val377=)
c.1233G>C (p.Val411=)
c.1266G>C (p.Val422=)
c.1173G>C (p.Val391=)
c.525G>C (p.Val175=)
c.834G>C (p.Val278=)
c.198G>C (p.Val66=)
3g.10375580C>TCA432441860ATP2B2c.1131G>A (p.Val377=)
c.1233G>A (p.Val411=)
c.1266G>A (p.Val422=)
c.1173G>A (p.Val391=)
c.525G>A (p.Val175=)
c.834G>A (p.Val278=)
c.198G>A (p.Val66=)
3g.10375581A=CA1345182472ATP2B2c.1130T= (p.Val377=)
c.1232T= (p.Val411=)
c.1265T= (p.Val422=)
c.1172T= (p.Val391=)
c.524T= (p.Val175=)
c.833T= (p.Val278=)
c.197T= (p.Val66=)
3g.10375581A>CCA351784554ATP2B2c.1130T>G (p.Val377Gly)
c.1232T>G (p.Val411Gly)
c.1265T>G (p.Val422Gly)
c.1172T>G (p.Val391Gly)
c.524T>G (p.Val175Gly)
c.833T>G (p.Val278Gly)
c.197T>G (p.Val66Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375581A>GCA351784555ATP2B2c.1130T>C (p.Val377Ala)
c.1232T>C (p.Val411Ala)
c.1265T>C (p.Val422Ala)
c.1172T>C (p.Val391Ala)
c.524T>C (p.Val175Ala)
c.833T>C (p.Val278Ala)
c.197T>C (p.Val66Ala)
3g.10375581A>TCA351784556ATP2B2c.1130T>A (p.Val377Glu)
c.1232T>A (p.Val411Glu)
c.1265T>A (p.Val422Glu)
c.1172T>A (p.Val391Glu)
c.524T>A (p.Val175Glu)
c.833T>A (p.Val278Glu)
c.197T>A (p.Val66Glu)
3g.10375582C>ACA351784557ATP2B2c.1129G>T (p.Val377Leu)
c.1231G>T (p.Val411Leu)
c.1264G>T (p.Val422Leu)
c.1171G>T (p.Val391Leu)
c.523G>T (p.Val175Leu)
c.832G>T (p.Val278Leu)
c.196G>T (p.Val66Leu)
3g.10375582C=CA1345182473ATP2B2c.1129G= (p.Val377=)
c.1231G= (p.Val411=)
c.1264G= (p.Val422=)
c.1171G= (p.Val391=)
c.523G= (p.Val175=)
c.832G= (p.Val278=)
c.196G= (p.Val66=)
3g.10375582C>GCA351784558ATP2B2c.1129G>C (p.Val377Leu)
c.1231G>C (p.Val411Leu)
c.1264G>C (p.Val422Leu)
c.1171G>C (p.Val391Leu)
c.523G>C (p.Val175Leu)
c.832G>C (p.Val278Leu)
c.196G>C (p.Val66Leu)
3g.10375582C>TCA2253708ATP2B2c.1129G>A (p.Val377Met)
c.1231G>A (p.Val411Met)
c.1264G>A (p.Val422Met)
c.1171G>A (p.Val391Met)
c.523G>A (p.Val175Met)
c.832G>A (p.Val278Met)
c.196G>A (p.Val66Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.10375583G>ACA432441867ATP2B2c.1128C>T (p.Phe376=)
c.1230C>T (p.Phe410=)
c.1263C>T (p.Phe421=)
c.1170C>T (p.Phe390=)
c.522C>T (p.Phe174=)
c.831C>T (p.Phe277=)
c.195C>T (p.Phe65=)
 gnomAD v4 COSMIC COSMIC
3g.10375583G>CCA351784560ATP2B2c.1128C>G (p.Phe376Leu)
c.1230C>G (p.Phe410Leu)
c.1263C>G (p.Phe421Leu)
c.1170C>G (p.Phe390Leu)
c.522C>G (p.Phe174Leu)
c.831C>G (p.Phe277Leu)
c.195C>G (p.Phe65Leu)
3g.10375583G>TCA351784559ATP2B2c.1128C>A (p.Phe376Leu)
c.1230C>A (p.Phe410Leu)
c.1263C>A (p.Phe421Leu)
c.1170C>A (p.Phe390Leu)
c.522C>A (p.Phe174Leu)
c.831C>A (p.Phe277Leu)
c.195C>A (p.Phe65Leu)
3g.10375584A>CCA351784561ATP2B2c.1127T>G (p.Phe376Cys)
c.1229T>G (p.Phe410Cys)
c.1262T>G (p.Phe421Cys)
c.1169T>G (p.Phe390Cys)
c.521T>G (p.Phe174Cys)
c.830T>G (p.Phe277Cys)
c.194T>G (p.Phe65Cys)
3g.10375584A>GCA351784562ATP2B2c.1127T>C (p.Phe376Ser)
c.1229T>C (p.Phe410Ser)
c.1262T>C (p.Phe421Ser)
c.1169T>C (p.Phe390Ser)
c.521T>C (p.Phe174Ser)
c.830T>C (p.Phe277Ser)
c.194T>C (p.Phe65Ser)
3g.10375584A>TCA351784563ATP2B2c.1127T>A (p.Phe376Tyr)
c.1229T>A (p.Phe410Tyr)
c.1262T>A (p.Phe421Tyr)
c.1169T>A (p.Phe390Tyr)
c.521T>A (p.Phe174Tyr)
c.830T>A (p.Phe277Tyr)
c.194T>A (p.Phe65Tyr)
3g.10375585A>CCA351784564ATP2B2c.1126T>G (p.Phe376Val)
c.1228T>G (p.Phe410Val)
c.1261T>G (p.Phe421Val)
c.1168T>G (p.Phe390Val)
c.520T>G (p.Phe174Val)
c.829T>G (p.Phe277Val)
c.193T>G (p.Phe65Val)
3g.10375585A>GCA351784565ATP2B2c.1126T>C (p.Phe376Leu)
c.1228T>C (p.Phe410Leu)
c.1261T>C (p.Phe421Leu)
c.1168T>C (p.Phe390Leu)
c.520T>C (p.Phe174Leu)
c.829T>C (p.Phe277Leu)
c.193T>C (p.Phe65Leu)
3g.10375585A>TCA351784566ATP2B2c.1126T>A (p.Phe376Ile)
c.1228T>A (p.Phe410Ile)
c.1261T>A (p.Phe421Ile)
c.1168T>A (p.Phe390Ile)
c.520T>A (p.Phe174Ile)
c.829T>A (p.Phe277Ile)
c.193T>A (p.Phe65Ile)
3g.10375586G>ACA432441874ATP2B2c.1125C>T (p.Thr375=)
c.1227C>T (p.Thr409=)
c.1260C>T (p.Thr420=)
c.1167C>T (p.Thr389=)
c.519C>T (p.Thr173=)
c.828C>T (p.Thr276=)
c.192C>T (p.Thr64=)
 COSMIC COSMIC
3g.10375586G>CCA432441876ATP2B2c.1125C>G (p.Thr375=)
c.1227C>G (p.Thr409=)
c.1260C>G (p.Thr420=)
c.1167C>G (p.Thr389=)
c.519C>G (p.Thr173=)
c.828C>G (p.Thr276=)
c.192C>G (p.Thr64=)
3g.10375586G>TCA432441875ATP2B2c.1125C>A (p.Thr375=)
c.1227C>A (p.Thr409=)
c.1260C>A (p.Thr420=)
c.1167C>A (p.Thr389=)
c.519C>A (p.Thr173=)
c.828C>A (p.Thr276=)
c.192C>A (p.Thr64=)
3g.10375587G>ACA351784567ATP2B2c.1124C>T (p.Thr375Ile)
c.1226C>T (p.Thr409Ile)
c.1259C>T (p.Thr420Ile)
c.1166C>T (p.Thr389Ile)
c.518C>T (p.Thr173Ile)
c.827C>T (p.Thr276Ile)
c.191C>T (p.Thr64Ile)
 gnomAD v4
3g.10375587G>CCA351784568ATP2B2c.1124C>G (p.Thr375Ser)
c.1226C>G (p.Thr409Ser)
c.1259C>G (p.Thr420Ser)
c.1166C>G (p.Thr389Ser)
c.518C>G (p.Thr173Ser)
c.827C>G (p.Thr276Ser)
c.191C>G (p.Thr64Ser)
3g.10375587G=CA1345182476ATP2B2c.1124C= (p.Thr375=)
c.1226C= (p.Thr409=)
c.1259C= (p.Thr420=)
c.1166C= (p.Thr389=)
c.518C= (p.Thr173=)
c.827C= (p.Thr276=)
c.191C= (p.Thr64=)
3g.10375587G>TCA351784569ATP2B2c.1124C>A (p.Thr375Asn)
c.1226C>A (p.Thr409Asn)
c.1259C>A (p.Thr420Asn)
c.1166C>A (p.Thr389Asn)
c.518C>A (p.Thr173Asn)
c.827C>A (p.Thr276Asn)
c.191C>A (p.Thr64Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.10375588T>ACA2253709ATP2B2c.1123A>T (p.Thr375Ser)
c.1225A>T (p.Thr409Ser)
c.1258A>T (p.Thr420Ser)
c.1165A>T (p.Thr389Ser)
c.517A>T (p.Thr173Ser)
c.826A>T (p.Thr276Ser)
c.190A>T (p.Thr64Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375588T>CCA351784570ATP2B2c.1123A>G (p.Thr375Ala)
c.1225A>G (p.Thr409Ala)
c.1258A>G (p.Thr420Ala)
c.1165A>G (p.Thr389Ala)
c.517A>G (p.Thr173Ala)
c.826A>G (p.Thr276Ala)
c.190A>G (p.Thr64Ala)
3g.10375588T>GCA351784571ATP2B2c.1123A>C (p.Thr375Pro)
c.1225A>C (p.Thr409Pro)
c.1258A>C (p.Thr420Pro)
c.1165A>C (p.Thr389Pro)
c.517A>C (p.Thr173Pro)
c.826A>C (p.Thr276Pro)
c.190A>C (p.Thr64Pro)
 dbSNP
3g.10375588T=CA1345182478ATP2B2c.1123A= (p.Thr375=)
c.1225A= (p.Thr409=)
c.1258A= (p.Thr420=)
c.1165A= (p.Thr389=)
c.517A= (p.Thr173=)
c.826A= (p.Thr276=)
c.190A= (p.Thr64=)
3g.10375589G>ACA432441883ATP2B2c.1122C>T (p.Asp374=)
c.1224C>T (p.Asp408=)
c.1257C>T (p.Asp419=)
c.1164C>T (p.Asp388=)
c.516C>T (p.Asp172=)
c.825C>T (p.Asp275=)
c.189C>T (p.Asp63=)
 gnomAD v4
3g.10375589G>CCA351784572ATP2B2c.1122C>G (p.Asp374Glu)
c.1224C>G (p.Asp408Glu)
c.1257C>G (p.Asp419Glu)
c.1164C>G (p.Asp388Glu)
c.516C>G (p.Asp172Glu)
c.825C>G (p.Asp275Glu)
c.189C>G (p.Asp63Glu)
3g.10375589G>TCA351784573ATP2B2c.1122C>A (p.Asp374Glu)
c.1224C>A (p.Asp408Glu)
c.1257C>A (p.Asp419Glu)
c.1164C>A (p.Asp388Glu)
c.516C>A (p.Asp172Glu)
c.825C>A (p.Asp275Glu)
c.189C>A (p.Asp63Glu)
3g.10375590T>ACA351784574ATP2B2c.1121A>T (p.Asp374Val)
c.1223A>T (p.Asp408Val)
c.1256A>T (p.Asp419Val)
c.1163A>T (p.Asp388Val)
c.515A>T (p.Asp172Val)
c.824A>T (p.Asp275Val)
c.188A>T (p.Asp63Val)
3g.10375590T>CCA351784575ATP2B2c.1121A>G (p.Asp374Gly)
c.1223A>G (p.Asp408Gly)
c.1256A>G (p.Asp419Gly)
c.1163A>G (p.Asp388Gly)
c.515A>G (p.Asp172Gly)
c.824A>G (p.Asp275Gly)
c.188A>G (p.Asp63Gly)
3g.10375590T>GCA351784576ATP2B2c.1121A>C (p.Asp374Ala)
c.1223A>C (p.Asp408Ala)
c.1256A>C (p.Asp419Ala)
c.1163A>C (p.Asp388Ala)
c.515A>C (p.Asp172Ala)
c.824A>C (p.Asp275Ala)
c.188A>C (p.Asp63Ala)
3g.10375591C>ACA351784577ATP2B2c.1120G>T (p.Asp374Tyr)
c.1222G>T (p.Asp408Tyr)
c.1255G>T (p.Asp419Tyr)
c.1162G>T (p.Asp388Tyr)
c.514G>T (p.Asp172Tyr)
c.823G>T (p.Asp275Tyr)
c.187G>T (p.Asp63Tyr)
3g.10375591C>GCA351784578ATP2B2c.1120G>C (p.Asp374His)
c.1222G>C (p.Asp408His)
c.1255G>C (p.Asp419His)
c.1162G>C (p.Asp388His)
c.514G>C (p.Asp172His)
c.823G>C (p.Asp275His)
c.187G>C (p.Asp63His)
3g.10375591C>TCA351784579ATP2B2c.1120G>A (p.Asp374Asn)
c.1222G>A (p.Asp408Asn)
c.1255G>A (p.Asp419Asn)
c.1162G>A (p.Asp388Asn)
c.514G>A (p.Asp172Asn)
c.823G>A (p.Asp275Asn)
c.187G>A (p.Asp63Asn)
 gnomAD v4 COSMIC COSMIC
3g.10375592C>ACA432441891ATP2B2c.1119G>T (p.Val373=)
c.1221G>T (p.Val407=)
c.1254G>T (p.Val418=)
c.1161G>T (p.Val387=)
c.513G>T (p.Val171=)
c.822G>T (p.Val274=)
c.186G>T (p.Val62=)
3g.10375592C>GCA432441893ATP2B2c.1119G>C (p.Val373=)
c.1221G>C (p.Val407=)
c.1254G>C (p.Val418=)
c.1161G>C (p.Val387=)
c.513G>C (p.Val171=)
c.822G>C (p.Val274=)
c.186G>C (p.Val62=)
3g.10375592C>TCA432441895ATP2B2c.1119G>A (p.Val373=)
c.1221G>A (p.Val407=)
c.1254G>A (p.Val418=)
c.1161G>A (p.Val387=)
c.513G>A (p.Val171=)
c.822G>A (p.Val274=)
c.186G>A (p.Val62=)
3g.10375593A>CCA351784580ATP2B2c.1118T>G (p.Val373Gly)
c.1220T>G (p.Val407Gly)
c.1253T>G (p.Val418Gly)
c.1160T>G (p.Val387Gly)
c.512T>G (p.Val171Gly)
c.821T>G (p.Val274Gly)
c.185T>G (p.Val62Gly)
3g.10375593A>GCA351784581ATP2B2c.1118T>C (p.Val373Ala)
c.1220T>C (p.Val407Ala)
c.1253T>C (p.Val418Ala)
c.1160T>C (p.Val387Ala)
c.512T>C (p.Val171Ala)
c.821T>C (p.Val274Ala)
c.185T>C (p.Val62Ala)
 gnomAD v4
3g.10375593A>TCA351784582ATP2B2c.1118T>A (p.Val373Glu)
c.1220T>A (p.Val407Glu)
c.1253T>A (p.Val418Glu)
c.1160T>A (p.Val387Glu)
c.512T>A (p.Val171Glu)
c.821T>A (p.Val274Glu)
c.185T>A (p.Val62Glu)
3g.10375594C>ACA351784583ATP2B2c.1117G>T (p.Val373Leu)
c.1219G>T (p.Val407Leu)
c.1252G>T (p.Val418Leu)
c.1159G>T (p.Val387Leu)
c.511G>T (p.Val171Leu)
c.820G>T (p.Val274Leu)
c.184G>T (p.Val62Leu)
3g.10375594C=CA1345182480ATP2B2c.1117G= (p.Val373=)
c.1219G= (p.Val407=)
c.1252G= (p.Val418=)
c.1159G= (p.Val387=)
c.511G= (p.Val171=)
c.820G= (p.Val274=)
c.184G= (p.Val62=)
3g.10375594C>GCA351784584ATP2B2c.1117G>C (p.Val373Leu)
c.1219G>C (p.Val407Leu)
c.1252G>C (p.Val418Leu)
c.1159G>C (p.Val387Leu)
c.511G>C (p.Val171Leu)
c.820G>C (p.Val274Leu)
c.184G>C (p.Val62Leu)
3g.10375594C>TCA351784585ATP2B2c.1117G>A (p.Val373Met)
c.1219G>A (p.Val407Met)
c.1252G>A (p.Val418Met)
c.1159G>A (p.Val387Met)
c.511G>A (p.Val171Met)
c.820G>A (p.Val274Met)
c.184G>A (p.Val62Met)
 dbSNP
3g.10375595A=CA1345182482ATP2B2c.1116T= (p.Thr372=)
c.1218T= (p.Thr406=)
c.1251T= (p.Thr417=)
c.1158T= (p.Thr386=)
c.510T= (p.Thr170=)
c.819T= (p.Thr273=)
c.183T= (p.Thr61=)
3g.10375595A>CCA432441902ATP2B2c.1116T>G (p.Thr372=)
c.1218T>G (p.Thr406=)
c.1251T>G (p.Thr417=)
c.1158T>G (p.Thr386=)
c.510T>G (p.Thr170=)
c.819T>G (p.Thr273=)
c.183T>G (p.Thr61=)
3g.10375595A>GCA432441903ATP2B2c.1116T>C (p.Thr372=)
c.1218T>C (p.Thr406=)
c.1251T>C (p.Thr417=)
c.1158T>C (p.Thr386=)
c.510T>C (p.Thr170=)
c.819T>C (p.Thr273=)
c.183T>C (p.Thr61=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375595A>TCA432441905ATP2B2c.1116T>A (p.Thr372=)
c.1218T>A (p.Thr406=)
c.1251T>A (p.Thr417=)
c.1158T>A (p.Thr386=)
c.510T>A (p.Thr170=)
c.819T>A (p.Thr273=)
c.183T>A (p.Thr61=)
3g.10375596G>ACA351784587ATP2B2c.1115C>T (p.Thr372Ile)
c.1217C>T (p.Thr406Ile)
c.1250C>T (p.Thr417Ile)
c.1157C>T (p.Thr386Ile)
c.509C>T (p.Thr170Ile)
c.818C>T (p.Thr273Ile)
c.182C>T (p.Thr61Ile)
 gnomAD v4
3g.10375596G>CCA70116362ATP2B2c.1115C>G (p.Thr372Ser)
c.1217C>G (p.Thr406Ser)
c.1250C>G (p.Thr417Ser)
c.1157C>G (p.Thr386Ser)
c.509C>G (p.Thr170Ser)
c.818C>G (p.Thr273Ser)
c.182C>G (p.Thr61Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.10375596G=CA1345182484ATP2B2c.1115C= (p.Thr372=)
c.1217C= (p.Thr406=)
c.1250C= (p.Thr417=)
c.1157C= (p.Thr386=)
c.509C= (p.Thr170=)
c.818C= (p.Thr273=)
c.182C= (p.Thr61=)
3g.10375596G>TCA351784586ATP2B2c.1115C>A (p.Thr372Asn)
c.1217C>A (p.Thr406Asn)
c.1250C>A (p.Thr417Asn)
c.1157C>A (p.Thr386Asn)
c.509C>A (p.Thr170Asn)
c.818C>A (p.Thr273Asn)
c.182C>A (p.Thr61Asn)
3g.10375597T>ACA351784588ATP2B2c.1114A>T (p.Thr372Ser)
c.1216A>T (p.Thr406Ser)
c.1249A>T (p.Thr417Ser)
c.1156A>T (p.Thr386Ser)
c.508A>T (p.Thr170Ser)
c.817A>T (p.Thr273Ser)
c.181A>T (p.Thr61Ser)
 dbSNP
3g.10375597T>CCA351784589ATP2B2c.1114A>G (p.Thr372Ala)
c.1216A>G (p.Thr406Ala)
c.1249A>G (p.Thr417Ala)
c.1156A>G (p.Thr386Ala)
c.508A>G (p.Thr170Ala)
c.817A>G (p.Thr273Ala)
c.181A>G (p.Thr61Ala)
 gnomAD v4
3g.10375597T>GCA351784590ATP2B2c.1114A>C (p.Thr372Pro)
c.1216A>C (p.Thr406Pro)
c.1249A>C (p.Thr417Pro)
c.1156A>C (p.Thr386Pro)
c.508A>C (p.Thr170Pro)
c.817A>C (p.Thr273Pro)
c.181A>C (p.Thr61Pro)
 gnomAD v4
3g.10375597T=CA1345182486ATP2B2c.1114A= (p.Thr372=)
c.1216A= (p.Thr406=)
c.1249A= (p.Thr417=)
c.1156A= (p.Thr386=)
c.508A= (p.Thr170=)
c.817A= (p.Thr273=)
c.181A= (p.Thr61=)
3g.10375598G>ACA432441913ATP2B2c.1113C>T (p.Phe371=)
c.1215C>T (p.Phe405=)
c.1248C>T (p.Phe416=)
c.1155C>T (p.Phe385=)
c.507C>T (p.Phe169=)
c.816C>T (p.Phe272=)
c.180C>T (p.Phe60=)
3g.10375598G>CCA351784591ATP2B2c.1113C>G (p.Phe371Leu)
c.1215C>G (p.Phe405Leu)
c.1248C>G (p.Phe416Leu)
c.1155C>G (p.Phe385Leu)
c.507C>G (p.Phe169Leu)
c.816C>G (p.Phe272Leu)
c.180C>G (p.Phe60Leu)
3g.10375598G>TCA351784592ATP2B2c.1113C>A (p.Phe371Leu)
c.1215C>A (p.Phe405Leu)
c.1248C>A (p.Phe416Leu)
c.1155C>A (p.Phe385Leu)
c.507C>A (p.Phe169Leu)
c.816C>A (p.Phe272Leu)
c.180C>A (p.Phe60Leu)
 gnomAD v4

Number of alleles fetched