Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
3g.10375599A>CCA351784593ATP2B2c.1112T>G (p.Phe371Cys)
c.1214T>G (p.Phe405Cys)
c.1247T>G (p.Phe416Cys)
c.1154T>G (p.Phe385Cys)
c.506T>G (p.Phe169Cys)
c.815T>G (p.Phe272Cys)
c.179T>G (p.Phe60Cys)
3g.10375599A>GCA351784594ATP2B2c.1112T>C (p.Phe371Ser)
c.1214T>C (p.Phe405Ser)
c.1247T>C (p.Phe416Ser)
c.1154T>C (p.Phe385Ser)
c.506T>C (p.Phe169Ser)
c.815T>C (p.Phe272Ser)
c.179T>C (p.Phe60Ser)
3g.10375599A>TCA351784595ATP2B2c.1112T>A (p.Phe371Tyr)
c.1214T>A (p.Phe405Tyr)
c.1247T>A (p.Phe416Tyr)
c.1154T>A (p.Phe385Tyr)
c.506T>A (p.Phe169Tyr)
c.815T>A (p.Phe272Tyr)
c.179T>A (p.Phe60Tyr)
3g.10375600A>CCA351784596ATP2B2c.1111T>G (p.Phe371Val)
c.1213T>G (p.Phe405Val)
c.1246T>G (p.Phe416Val)
c.1153T>G (p.Phe385Val)
c.505T>G (p.Phe169Val)
c.814T>G (p.Phe272Val)
c.178T>G (p.Phe60Val)
3g.10375600A>GCA351784597ATP2B2c.1111T>C (p.Phe371Leu)
c.1213T>C (p.Phe405Leu)
c.1246T>C (p.Phe416Leu)
c.1153T>C (p.Phe385Leu)
c.505T>C (p.Phe169Leu)
c.814T>C (p.Phe272Leu)
c.178T>C (p.Phe60Leu)
3g.10375600A>TCA351784598ATP2B2c.1111T>A (p.Phe371Ile)
c.1213T>A (p.Phe405Ile)
c.1246T>A (p.Phe416Ile)
c.1153T>A (p.Phe385Ile)
c.505T>A (p.Phe169Ile)
c.814T>A (p.Phe272Ile)
c.178T>A (p.Phe60Ile)
3g.10375601G>ACA432441921ATP2B2c.1110C>T (p.Tyr370=)
c.1212C>T (p.Tyr404=)
c.1245C>T (p.Tyr415=)
c.1152C>T (p.Tyr384=)
c.504C>T (p.Tyr168=)
c.813C>T (p.Tyr271=)
c.177C>T (p.Tyr59=)
 COSMIC COSMIC
3g.10375601G>CCA351784599ATP2B2c.1110C>G (p.Tyr370Ter)
c.1212C>G (p.Tyr404Ter)
c.1245C>G (p.Tyr415Ter)
c.1152C>G (p.Tyr384Ter)
c.504C>G (p.Tyr168Ter)
c.813C>G (p.Tyr271Ter)
c.177C>G (p.Tyr59Ter)
3g.10375601G>TCA351784600ATP2B2c.1110C>A (p.Tyr370Ter)
c.1212C>A (p.Tyr404Ter)
c.1245C>A (p.Tyr415Ter)
c.1152C>A (p.Tyr384Ter)
c.504C>A (p.Tyr168Ter)
c.813C>A (p.Tyr271Ter)
c.177C>A (p.Tyr59Ter)
3g.10375602T>ACA351784602ATP2B2c.1109A>T (p.Tyr370Phe)
c.1211A>T (p.Tyr404Phe)
c.1244A>T (p.Tyr415Phe)
c.1151A>T (p.Tyr384Phe)
c.503A>T (p.Tyr168Phe)
c.812A>T (p.Tyr271Phe)
c.176A>T (p.Tyr59Phe)
3g.10375602T>CCA351784601ATP2B2c.1109A>G (p.Tyr370Cys)
c.1211A>G (p.Tyr404Cys)
c.1244A>G (p.Tyr415Cys)
c.1151A>G (p.Tyr384Cys)
c.503A>G (p.Tyr168Cys)
c.812A>G (p.Tyr271Cys)
c.176A>G (p.Tyr59Cys)
 gnomAD v4
3g.10375602T>GCA70116375ATP2B2c.1109A>C (p.Tyr370Ser)
c.1211A>C (p.Tyr404Ser)
c.1244A>C (p.Tyr415Ser)
c.1151A>C (p.Tyr384Ser)
c.503A>C (p.Tyr168Ser)
c.812A>C (p.Tyr271Ser)
c.176A>C (p.Tyr59Ser)
 dbSNP gnomAD v4
3g.10375602T=CA1345182488ATP2B2c.1109A= (p.Tyr370=)
c.1211A= (p.Tyr404=)
c.1244A= (p.Tyr415=)
c.1151A= (p.Tyr384=)
c.503A= (p.Tyr168=)
c.812A= (p.Tyr271=)
c.176A= (p.Tyr59=)
3g.10375603A>CCA351784603ATP2B2c.1108T>G (p.Tyr370Asp)
c.1210T>G (p.Tyr404Asp)
c.1243T>G (p.Tyr415Asp)
c.1150T>G (p.Tyr384Asp)
c.502T>G (p.Tyr168Asp)
c.811T>G (p.Tyr271Asp)
c.175T>G (p.Tyr59Asp)
3g.10375603A>GCA351784604ATP2B2c.1108T>C (p.Tyr370His)
c.1210T>C (p.Tyr404His)
c.1243T>C (p.Tyr415His)
c.1150T>C (p.Tyr384His)
c.502T>C (p.Tyr168His)
c.811T>C (p.Tyr271His)
c.175T>C (p.Tyr59His)
3g.10375603A>TCA351784605ATP2B2c.1108T>A (p.Tyr370Asn)
c.1210T>A (p.Tyr404Asn)
c.1243T>A (p.Tyr415Asn)
c.1150T>A (p.Tyr384Asn)
c.502T>A (p.Tyr168Asn)
c.811T>A (p.Tyr271Asn)
c.175T>A (p.Tyr59Asn)
3g.10375604G>ACA432441927ATP2B2c.1107C>T (p.Leu369=)
c.1209C>T (p.Leu403=)
c.1242C>T (p.Leu414=)
c.1149C>T (p.Leu383=)
c.501C>T (p.Leu167=)
c.810C>T (p.Leu270=)
c.174C>T (p.Leu58=)
 gnomAD v4
3g.10375604G>CCA2253710ATP2B2c.1107C>G (p.Leu369=)
c.1209C>G (p.Leu403=)
c.1242C>G (p.Leu414=)
c.1149C>G (p.Leu383=)
c.501C>G (p.Leu167=)
c.810C>G (p.Leu270=)
c.174C>G (p.Leu58=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375604G=CA1345182490ATP2B2c.1107C= (p.Leu369=)
c.1209C= (p.Leu403=)
c.1242C= (p.Leu414=)
c.1149C= (p.Leu383=)
c.501C= (p.Leu167=)
c.810C= (p.Leu270=)
c.174C= (p.Leu58=)
3g.10375604G>TCA432441930ATP2B2c.1107C>A (p.Leu369=)
c.1209C>A (p.Leu403=)
c.1242C>A (p.Leu414=)
c.1149C>A (p.Leu383=)
c.501C>A (p.Leu167=)
c.810C>A (p.Leu270=)
c.174C>A (p.Leu58=)
3g.10375605A>CCA351784606ATP2B2c.1106T>G (p.Leu369Arg)
c.1208T>G (p.Leu403Arg)
c.1241T>G (p.Leu414Arg)
c.1148T>G (p.Leu383Arg)
c.500T>G (p.Leu167Arg)
c.809T>G (p.Leu270Arg)
c.173T>G (p.Leu58Arg)
3g.10375605A>GCA351784607ATP2B2c.1106T>C (p.Leu369Pro)
c.1208T>C (p.Leu403Pro)
c.1241T>C (p.Leu414Pro)
c.1148T>C (p.Leu383Pro)
c.500T>C (p.Leu167Pro)
c.809T>C (p.Leu270Pro)
c.173T>C (p.Leu58Pro)
3g.10375605A>TCA351784608ATP2B2c.1106T>A (p.Leu369His)
c.1208T>A (p.Leu403His)
c.1241T>A (p.Leu414His)
c.1148T>A (p.Leu383His)
c.500T>A (p.Leu167His)
c.809T>A (p.Leu270His)
c.173T>A (p.Leu58His)
3g.10375606G>ACA351784609ATP2B2c.1105C>T (p.Leu369Phe)
c.1207C>T (p.Leu403Phe)
c.1240C>T (p.Leu414Phe)
c.1147C>T (p.Leu383Phe)
c.499C>T (p.Leu167Phe)
c.808C>T (p.Leu270Phe)
c.172C>T (p.Leu58Phe)
 gnomAD v4
3g.10375606G>CCA351784610ATP2B2c.1105C>G (p.Leu369Val)
c.1207C>G (p.Leu403Val)
c.1240C>G (p.Leu414Val)
c.1147C>G (p.Leu383Val)
c.499C>G (p.Leu167Val)
c.808C>G (p.Leu270Val)
c.172C>G (p.Leu58Val)
3g.10375606G>TCA351784611ATP2B2c.1105C>A (p.Leu369Ile)
c.1207C>A (p.Leu403Ile)
c.1240C>A (p.Leu414Ile)
c.1147C>A (p.Leu383Ile)
c.499C>A (p.Leu167Ile)
c.808C>A (p.Leu270Ile)
c.172C>A (p.Leu58Ile)
 gnomAD v4
3g.10375607C>ACA432441935ATP2B2c.1104G>T (p.Val368=)
c.1206G>T (p.Val402=)
c.1239G>T (p.Val413=)
c.1146G>T (p.Val382=)
c.498G>T (p.Val166=)
c.807G>T (p.Val269=)
c.171G>T (p.Val57=)
3g.10375607C>GCA432441939ATP2B2c.1104G>C (p.Val368=)
c.1206G>C (p.Val402=)
c.1239G>C (p.Val413=)
c.1146G>C (p.Val382=)
c.498G>C (p.Val166=)
c.807G>C (p.Val269=)
c.171G>C (p.Val57=)
3g.10375607C>TCA432441937ATP2B2c.1104G>A (p.Val368=)
c.1206G>A (p.Val402=)
c.1239G>A (p.Val413=)
c.1146G>A (p.Val382=)
c.498G>A (p.Val166=)
c.807G>A (p.Val269=)
c.171G>A (p.Val57=)
3g.10375608A>CCA351784612ATP2B2c.1103T>G (p.Val368Gly)
c.1205T>G (p.Val402Gly)
c.1238T>G (p.Val413Gly)
c.1145T>G (p.Val382Gly)
c.497T>G (p.Val166Gly)
c.806T>G (p.Val269Gly)
c.170T>G (p.Val57Gly)
3g.10375608A>GCA351784613ATP2B2c.1103T>C (p.Val368Ala)
c.1205T>C (p.Val402Ala)
c.1238T>C (p.Val413Ala)
c.1145T>C (p.Val382Ala)
c.497T>C (p.Val166Ala)
c.806T>C (p.Val269Ala)
c.170T>C (p.Val57Ala)
3g.10375608A>TCA351784614ATP2B2c.1103T>A (p.Val368Glu)
c.1205T>A (p.Val402Glu)
c.1238T>A (p.Val413Glu)
c.1145T>A (p.Val382Glu)
c.497T>A (p.Val166Glu)
c.806T>A (p.Val269Glu)
c.170T>A (p.Val57Glu)
3g.10375609C>ACA351784617ATP2B2c.1102G>T (p.Val368Leu)
c.1204G>T (p.Val402Leu)
c.1237G>T (p.Val413Leu)
c.1144G>T (p.Val382Leu)
c.496G>T (p.Val166Leu)
c.805G>T (p.Val269Leu)
c.169G>T (p.Val57Leu)
3g.10375609C>GCA351784616ATP2B2c.1102G>C (p.Val368Leu)
c.1204G>C (p.Val402Leu)
c.1237G>C (p.Val413Leu)
c.1144G>C (p.Val382Leu)
c.496G>C (p.Val166Leu)
c.805G>C (p.Val269Leu)
c.169G>C (p.Val57Leu)
3g.10375609C>TCA351784615ATP2B2c.1102G>A (p.Val368Met)
c.1204G>A (p.Val402Met)
c.1237G>A (p.Val413Met)
c.1144G>A (p.Val382Met)
c.496G>A (p.Val166Met)
c.805G>A (p.Val269Met)
c.169G>A (p.Val57Met)
 gnomAD v4
3g.10375610C>ACA432441946ATP2B2c.1101G>T (p.Leu367=)
c.1203G>T (p.Leu401=)
c.1236G>T (p.Leu412=)
c.1143G>T (p.Leu381=)
c.495G>T (p.Leu165=)
c.804G>T (p.Leu268=)
c.168G>T (p.Leu56=)
3g.10375610C=CA1345182492ATP2B2c.1101G= (p.Leu367=)
c.1203G= (p.Leu401=)
c.1236G= (p.Leu412=)
c.1143G= (p.Leu381=)
c.495G= (p.Leu165=)
c.804G= (p.Leu268=)
c.168G= (p.Leu56=)
3g.10375610C>GCA2253711ATP2B2c.1101G>C (p.Leu367=)
c.1203G>C (p.Leu401=)
c.1236G>C (p.Leu412=)
c.1143G>C (p.Leu381=)
c.495G>C (p.Leu165=)
c.804G>C (p.Leu268=)
c.168G>C (p.Leu56=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375610C>TCA432441948ATP2B2c.1101G>A (p.Leu367=)
c.1203G>A (p.Leu401=)
c.1236G>A (p.Leu412=)
c.1143G>A (p.Leu381=)
c.495G>A (p.Leu165=)
c.804G>A (p.Leu268=)
c.168G>A (p.Leu56=)
3g.10375611A>CCA351784619ATP2B2c.1100T>G (p.Leu367Arg)
c.1202T>G (p.Leu401Arg)
c.1235T>G (p.Leu412Arg)
c.1142T>G (p.Leu381Arg)
c.494T>G (p.Leu165Arg)
c.803T>G (p.Leu268Arg)
c.167T>G (p.Leu56Arg)
3g.10375611A>GCA351784618ATP2B2c.1100T>C (p.Leu367Pro)
c.1202T>C (p.Leu401Pro)
c.1235T>C (p.Leu412Pro)
c.1142T>C (p.Leu381Pro)
c.494T>C (p.Leu165Pro)
c.803T>C (p.Leu268Pro)
c.167T>C (p.Leu56Pro)
3g.10375611A>TCA351784620ATP2B2c.1100T>A (p.Leu367Gln)
c.1202T>A (p.Leu401Gln)
c.1235T>A (p.Leu412Gln)
c.1142T>A (p.Leu381Gln)
c.494T>A (p.Leu165Gln)
c.803T>A (p.Leu268Gln)
c.167T>A (p.Leu56Gln)
3g.10375612G>ACA432441953ATP2B2c.1099C>T (p.Leu367=)
c.1201C>T (p.Leu401=)
c.1234C>T (p.Leu412=)
c.1141C>T (p.Leu381=)
c.493C>T (p.Leu165=)
c.802C>T (p.Leu268=)
c.166C>T (p.Leu56=)
3g.10375612G>CCA351784621ATP2B2c.1099C>G (p.Leu367Val)
c.1201C>G (p.Leu401Val)
c.1234C>G (p.Leu412Val)
c.1141C>G (p.Leu381Val)
c.493C>G (p.Leu165Val)
c.802C>G (p.Leu268Val)
c.166C>G (p.Leu56Val)
3g.10375612G>TCA351784622ATP2B2c.1099C>A (p.Leu367Met)
c.1201C>A (p.Leu401Met)
c.1234C>A (p.Leu412Met)
c.1141C>A (p.Leu381Met)
c.493C>A (p.Leu165Met)
c.802C>A (p.Leu268Met)
c.166C>A (p.Leu56Met)
3g.10375613G>ACA432441956ATP2B2c.1098C>T (p.Ile366=)
c.1200C>T (p.Ile400=)
c.1233C>T (p.Ile411=)
c.1140C>T (p.Ile380=)
c.492C>T (p.Ile164=)
c.801C>T (p.Ile267=)
c.165C>T (p.Ile55=)
3g.10375613G>CCA351784623ATP2B2c.1098C>G (p.Ile366Met)
c.1200C>G (p.Ile400Met)
c.1233C>G (p.Ile411Met)
c.1140C>G (p.Ile380Met)
c.492C>G (p.Ile164Met)
c.801C>G (p.Ile267Met)
c.165C>G (p.Ile55Met)
3g.10375613G>TCA432441959ATP2B2c.1098C>A (p.Ile366=)
c.1200C>A (p.Ile400=)
c.1233C>A (p.Ile411=)
c.1140C>A (p.Ile380=)
c.492C>A (p.Ile164=)
c.801C>A (p.Ile267=)
c.165C>A (p.Ile55=)
3g.10375614A>CCA351784625ATP2B2c.1097T>G (p.Ile366Ser)
c.1199T>G (p.Ile400Ser)
c.1232T>G (p.Ile411Ser)
c.1139T>G (p.Ile380Ser)
c.491T>G (p.Ile164Ser)
c.800T>G (p.Ile267Ser)
c.164T>G (p.Ile55Ser)
3g.10375614A>GCA351784624ATP2B2c.1097T>C (p.Ile366Thr)
c.1199T>C (p.Ile400Thr)
c.1232T>C (p.Ile411Thr)
c.1139T>C (p.Ile380Thr)
c.491T>C (p.Ile164Thr)
c.800T>C (p.Ile267Thr)
c.164T>C (p.Ile55Thr)
3g.10375614A>TCA351784626ATP2B2c.1097T>A (p.Ile366Asn)
c.1199T>A (p.Ile400Asn)
c.1232T>A (p.Ile411Asn)
c.1139T>A (p.Ile380Asn)
c.491T>A (p.Ile164Asn)
c.800T>A (p.Ile267Asn)
c.164T>A (p.Ile55Asn)
3g.10375615T>ACA351784627ATP2B2c.1096A>T (p.Ile366Phe)
c.1198A>T (p.Ile400Phe)
c.1231A>T (p.Ile411Phe)
c.1138A>T (p.Ile380Phe)
c.490A>T (p.Ile164Phe)
c.799A>T (p.Ile267Phe)
c.163A>T (p.Ile55Phe)
3g.10375615T>CCA351784628ATP2B2c.1096A>G (p.Ile366Val)
c.1198A>G (p.Ile400Val)
c.1231A>G (p.Ile411Val)
c.1138A>G (p.Ile380Val)
c.490A>G (p.Ile164Val)
c.799A>G (p.Ile267Val)
c.163A>G (p.Ile55Val)
3g.10375615T>GCA351784629ATP2B2c.1096A>C (p.Ile366Leu)
c.1198A>C (p.Ile400Leu)
c.1231A>C (p.Ile411Leu)
c.1138A>C (p.Ile380Leu)
c.490A>C (p.Ile164Leu)
c.799A>C (p.Ile267Leu)
c.163A>C (p.Ile55Leu)
 COSMIC COSMIC
3g.10375616G>ACA432441968ATP2B2c.1095C>T (p.Ile365=)
c.1197C>T (p.Ile399=)
c.1230C>T (p.Ile410=)
c.1137C>T (p.Ile379=)
c.489C>T (p.Ile163=)
c.798C>T (p.Ile266=)
c.162C>T (p.Ile54=)
3g.10375616G>CCA351784630ATP2B2c.1095C>G (p.Ile365Met)
c.1197C>G (p.Ile399Met)
c.1230C>G (p.Ile410Met)
c.1137C>G (p.Ile379Met)
c.489C>G (p.Ile163Met)
c.798C>G (p.Ile266Met)
c.162C>G (p.Ile54Met)
3g.10375616G>TCA432441966ATP2B2c.1095C>A (p.Ile365=)
c.1197C>A (p.Ile399=)
c.1230C>A (p.Ile410=)
c.1137C>A (p.Ile379=)
c.489C>A (p.Ile163=)
c.798C>A (p.Ile266=)
c.162C>A (p.Ile54=)
 gnomAD v4
3g.10375617A>CCA351784631ATP2B2c.1094T>G (p.Ile365Ser)
c.1196T>G (p.Ile399Ser)
c.1229T>G (p.Ile410Ser)
c.1136T>G (p.Ile379Ser)
c.488T>G (p.Ile163Ser)
c.797T>G (p.Ile266Ser)
c.161T>G (p.Ile54Ser)
3g.10375617A>GCA351784632ATP2B2c.1094T>C (p.Ile365Thr)
c.1196T>C (p.Ile399Thr)
c.1229T>C (p.Ile410Thr)
c.1136T>C (p.Ile379Thr)
c.488T>C (p.Ile163Thr)
c.797T>C (p.Ile266Thr)
c.161T>C (p.Ile54Thr)
3g.10375617A>TCA351784633ATP2B2c.1094T>A (p.Ile365Asn)
c.1196T>A (p.Ile399Asn)
c.1229T>A (p.Ile410Asn)
c.1136T>A (p.Ile379Asn)
c.488T>A (p.Ile163Asn)
c.797T>A (p.Ile266Asn)
c.161T>A (p.Ile54Asn)
3g.10375618T>ACA351784634ATP2B2c.1093A>T (p.Ile365Phe)
c.1195A>T (p.Ile399Phe)
c.1228A>T (p.Ile410Phe)
c.1135A>T (p.Ile379Phe)
c.487A>T (p.Ile163Phe)
c.796A>T (p.Ile266Phe)
c.160A>T (p.Ile54Phe)
3g.10375618T>CCA351784635ATP2B2c.1093A>G (p.Ile365Val)
c.1195A>G (p.Ile399Val)
c.1228A>G (p.Ile410Val)
c.1135A>G (p.Ile379Val)
c.487A>G (p.Ile163Val)
c.796A>G (p.Ile266Val)
c.160A>G (p.Ile54Val)
 dbSNP gnomAD v2 gnomAD v4
3g.10375618T>GCA351784636ATP2B2c.1093A>C (p.Ile365Leu)
c.1195A>C (p.Ile399Leu)
c.1228A>C (p.Ile410Leu)
c.1135A>C (p.Ile379Leu)
c.487A>C (p.Ile163Leu)
c.796A>C (p.Ile266Leu)
c.160A>C (p.Ile54Leu)
3g.10375618T=CA1345182494ATP2B2c.1093A= (p.Ile365=)
c.1195A= (p.Ile399=)
c.1228A= (p.Ile410=)
c.1135A= (p.Ile379=)
c.487A= (p.Ile163=)
c.796A= (p.Ile266=)
c.160A= (p.Ile54=)
3g.10375619C>ACA70116380ATP2B2c.1092G>T (p.Val364=)
c.1194G>T (p.Val398=)
c.1227G>T (p.Val409=)
c.1134G>T (p.Val378=)
c.486G>T (p.Val162=)
c.795G>T (p.Val265=)
c.159G>T (p.Val53=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375619C=CA1345182496ATP2B2c.1092G= (p.Val364=)
c.1194G= (p.Val398=)
c.1227G= (p.Val409=)
c.1134G= (p.Val378=)
c.486G= (p.Val162=)
c.795G= (p.Val265=)
c.159G= (p.Val53=)
3g.10375619C>GCA432441973ATP2B2c.1092G>C (p.Val364=)
c.1194G>C (p.Val398=)
c.1227G>C (p.Val409=)
c.1134G>C (p.Val378=)
c.486G>C (p.Val162=)
c.795G>C (p.Val265=)
c.159G>C (p.Val53=)
3g.10375619C>TCA432441974ATP2B2c.1092G>A (p.Val364=)
c.1194G>A (p.Val398=)
c.1227G>A (p.Val409=)
c.1134G>A (p.Val378=)
c.486G>A (p.Val162=)
c.795G>A (p.Val265=)
c.159G>A (p.Val53=)
3g.10375620A=CA1345182498ATP2B2c.1091T= (p.Val364=)
c.1193T= (p.Val398=)
c.1226T= (p.Val409=)
c.1133T= (p.Val378=)
c.485T= (p.Val162=)
c.794T= (p.Val265=)
c.158T= (p.Val53=)
3g.10375620A>CCA351784637ATP2B2c.1091T>G (p.Val364Gly)
c.1193T>G (p.Val398Gly)
c.1226T>G (p.Val409Gly)
c.1133T>G (p.Val378Gly)
c.485T>G (p.Val162Gly)
c.794T>G (p.Val265Gly)
c.158T>G (p.Val53Gly)
3g.10375620A>GCA351784638ATP2B2c.1091T>C (p.Val364Ala)
c.1193T>C (p.Val398Ala)
c.1226T>C (p.Val409Ala)
c.1133T>C (p.Val378Ala)
c.485T>C (p.Val162Ala)
c.794T>C (p.Val265Ala)
c.158T>C (p.Val53Ala)
 ClinVar dbSNP
3g.10375620A>TCA351784639ATP2B2c.1091T>A (p.Val364Glu)
c.1193T>A (p.Val398Glu)
c.1226T>A (p.Val409Glu)
c.1133T>A (p.Val378Glu)
c.485T>A (p.Val162Glu)
c.794T>A (p.Val265Glu)
c.158T>A (p.Val53Glu)
3g.10375621C>ACA351784642ATP2B2c.1090G>T (p.Val364Leu)
c.1192G>T (p.Val398Leu)
c.1225G>T (p.Val409Leu)
c.1132G>T (p.Val378Leu)
c.484G>T (p.Val162Leu)
c.793G>T (p.Val265Leu)
c.157G>T (p.Val53Leu)
3g.10375621C>GCA351784641ATP2B2c.1090G>C (p.Val364Leu)
c.1192G>C (p.Val398Leu)
c.1225G>C (p.Val409Leu)
c.1132G>C (p.Val378Leu)
c.484G>C (p.Val162Leu)
c.793G>C (p.Val265Leu)
c.157G>C (p.Val53Leu)
3g.10375621C>TCA351784640ATP2B2c.1090G>A (p.Val364Met)
c.1192G>A (p.Val398Met)
c.1225G>A (p.Val409Met)
c.1132G>A (p.Val378Met)
c.484G>A (p.Val162Met)
c.793G>A (p.Val265Met)
c.157G>A (p.Val53Met)
3g.10375622C>ACA432441983ATP2B2c.1089G>T (p.Thr363=)
c.1191G>T (p.Thr397=)
c.1224G>T (p.Thr408=)
c.1131G>T (p.Thr377=)
c.483G>T (p.Thr161=)
c.792G>T (p.Thr264=)
c.156G>T (p.Thr52=)
3g.10375622C=CA1345182500ATP2B2c.1089G= (p.Thr363=)
c.1191G= (p.Thr397=)
c.1224G= (p.Thr408=)
c.1131G= (p.Thr377=)
c.483G= (p.Thr161=)
c.792G= (p.Thr264=)
c.156G= (p.Thr52=)
3g.10375622C>GCA432441981ATP2B2c.1089G>C (p.Thr363=)
c.1191G>C (p.Thr397=)
c.1224G>C (p.Thr408=)
c.1131G>C (p.Thr377=)
c.483G>C (p.Thr161=)
c.792G>C (p.Thr264=)
c.156G>C (p.Thr52=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375622C>TCA2253712ATP2B2c.1089G>A (p.Thr363=)
c.1191G>A (p.Thr397=)
c.1224G>A (p.Thr408=)
c.1131G>A (p.Thr377=)
c.483G>A (p.Thr161=)
c.792G>A (p.Thr264=)
c.156G>A (p.Thr52=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375623G>ACA351784643ATP2B2c.1088C>T (p.Thr363Met)
c.1190C>T (p.Thr397Met)
c.1223C>T (p.Thr408Met)
c.1130C>T (p.Thr377Met)
c.482C>T (p.Thr161Met)
c.791C>T (p.Thr264Met)
c.155C>T (p.Thr52Met)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.10375623G>CCA351784644ATP2B2c.1088C>G (p.Thr363Arg)
c.1190C>G (p.Thr397Arg)
c.1223C>G (p.Thr408Arg)
c.1130C>G (p.Thr377Arg)
c.482C>G (p.Thr161Arg)
c.791C>G (p.Thr264Arg)
c.155C>G (p.Thr52Arg)
3g.10375623G=CA1345182503ATP2B2c.1088C= (p.Thr363=)
c.1190C= (p.Thr397=)
c.1223C= (p.Thr408=)
c.1130C= (p.Thr377=)
c.482C= (p.Thr161=)
c.791C= (p.Thr264=)
c.155C= (p.Thr52=)
3g.10375623G>TCA351784645ATP2B2c.1088C>A (p.Thr363Lys)
c.1190C>A (p.Thr397Lys)
c.1223C>A (p.Thr408Lys)
c.1130C>A (p.Thr377Lys)
c.482C>A (p.Thr161Lys)
c.791C>A (p.Thr264Lys)
c.155C>A (p.Thr52Lys)
3g.10375624T>ACA351784646ATP2B2c.1087A>T (p.Thr363Ser)
c.1189A>T (p.Thr397Ser)
c.1222A>T (p.Thr408Ser)
c.1129A>T (p.Thr377Ser)
c.481A>T (p.Thr161Ser)
c.790A>T (p.Thr264Ser)
c.154A>T (p.Thr52Ser)
3g.10375624T>CCA351784647ATP2B2c.1087A>G (p.Thr363Ala)
c.1189A>G (p.Thr397Ala)
c.1222A>G (p.Thr408Ala)
c.1129A>G (p.Thr377Ala)
c.481A>G (p.Thr161Ala)
c.790A>G (p.Thr264Ala)
c.154A>G (p.Thr52Ala)
3g.10375624T>GCA351784648ATP2B2c.1087A>C (p.Thr363Pro)
c.1189A>C (p.Thr397Pro)
c.1222A>C (p.Thr408Pro)
c.1129A>C (p.Thr377Pro)
c.481A>C (p.Thr161Pro)
c.790A>C (p.Thr264Pro)
c.154A>C (p.Thr52Pro)
3g.10375625G>ACA432441990ATP2B2c.1086C>T (p.Ile362=)
c.1188C>T (p.Ile396=)
c.1221C>T (p.Ile407=)
c.1128C>T (p.Ile376=)
c.480C>T (p.Ile160=)
c.789C>T (p.Ile263=)
c.153C>T (p.Ile51=)
 dbSNP
3g.10375625G>CCA351784649ATP2B2c.1086C>G (p.Ile362Met)
c.1188C>G (p.Ile396Met)
c.1221C>G (p.Ile407Met)
c.1128C>G (p.Ile376Met)
c.480C>G (p.Ile160Met)
c.789C>G (p.Ile263Met)
c.153C>G (p.Ile51Met)
3g.10375625G=CA1345182505ATP2B2c.1086C= (p.Ile362=)
c.1188C= (p.Ile396=)
c.1221C= (p.Ile407=)
c.1128C= (p.Ile376=)
c.480C= (p.Ile160=)
c.789C= (p.Ile263=)
c.153C= (p.Ile51=)
3g.10375625G>TCA432441992ATP2B2c.1086C>A (p.Ile362=)
c.1188C>A (p.Ile396=)
c.1221C>A (p.Ile407=)
c.1128C>A (p.Ile376=)
c.480C>A (p.Ile160=)
c.789C>A (p.Ile263=)
c.153C>A (p.Ile51=)
3g.10375626A>CCA351784650ATP2B2c.1085T>G (p.Ile362Ser)
c.1187T>G (p.Ile396Ser)
c.1220T>G (p.Ile407Ser)
c.1127T>G (p.Ile376Ser)
c.479T>G (p.Ile160Ser)
c.788T>G (p.Ile263Ser)
c.152T>G (p.Ile51Ser)
3g.10375626A>GCA351784651ATP2B2c.1085T>C (p.Ile362Thr)
c.1187T>C (p.Ile396Thr)
c.1220T>C (p.Ile407Thr)
c.1127T>C (p.Ile376Thr)
c.479T>C (p.Ile160Thr)
c.788T>C (p.Ile263Thr)
c.152T>C (p.Ile51Thr)
3g.10375626A>TCA351784652ATP2B2c.1085T>A (p.Ile362Asn)
c.1187T>A (p.Ile396Asn)
c.1220T>A (p.Ile407Asn)
c.1127T>A (p.Ile376Asn)
c.479T>A (p.Ile160Asn)
c.788T>A (p.Ile263Asn)
c.152T>A (p.Ile51Asn)
3g.10375627T>ACA351784653ATP2B2c.1084A>T (p.Ile362Phe)
c.1186A>T (p.Ile396Phe)
c.1219A>T (p.Ile407Phe)
c.1126A>T (p.Ile376Phe)
c.478A>T (p.Ile160Phe)
c.787A>T (p.Ile263Phe)
c.151A>T (p.Ile51Phe)
3g.10375627T>CCA351784654ATP2B2c.1084A>G (p.Ile362Val)
c.1186A>G (p.Ile396Val)
c.1219A>G (p.Ile407Val)
c.1126A>G (p.Ile376Val)
c.478A>G (p.Ile160Val)
c.787A>G (p.Ile263Val)
c.151A>G (p.Ile51Val)
3g.10375627T>GCA351784655ATP2B2c.1084A>C (p.Ile362Leu)
c.1186A>C (p.Ile396Leu)
c.1219A>C (p.Ile407Leu)
c.1126A>C (p.Ile376Leu)
c.478A>C (p.Ile160Leu)
c.787A>C (p.Ile263Leu)
c.151A>C (p.Ile51Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.10375627T=CA1345182507ATP2B2c.1084A= (p.Ile362=)
c.1186A= (p.Ile396=)
c.1219A= (p.Ile407=)
c.1126A= (p.Ile376=)
c.478A= (p.Ile160=)
c.787A= (p.Ile263=)
c.151A= (p.Ile51=)
3g.10375628G>ACA432442000ATP2B2c.1083C>T (p.Ala361=)
c.1185C>T (p.Ala395=)
c.1218C>T (p.Ala406=)
c.1125C>T (p.Ala375=)
c.477C>T (p.Ala159=)
c.786C>T (p.Ala262=)
c.150C>T (p.Ala50=)
 gnomAD v4
3g.10375628G>CCA432442002ATP2B2c.1083C>G (p.Ala361=)
c.1185C>G (p.Ala395=)
c.1218C>G (p.Ala406=)
c.1125C>G (p.Ala375=)
c.477C>G (p.Ala159=)
c.786C>G (p.Ala262=)
c.150C>G (p.Ala50=)
3g.10375628G>TCA432442003ATP2B2c.1083C>A (p.Ala361=)
c.1185C>A (p.Ala395=)
c.1218C>A (p.Ala406=)
c.1125C>A (p.Ala375=)
c.477C>A (p.Ala159=)
c.786C>A (p.Ala262=)
c.150C>A (p.Ala50=)

Number of alleles fetched