Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.10375471G>ACA351784258ATP2B2c.1240C>T (p.Leu414Phe)
c.1342C>T (p.Leu448Phe)
c.1375C>T (p.Leu459Phe)
c.1282C>T (p.Leu428Phe)
c.634C>T (p.Leu212Phe)
c.943C>T (p.Leu315Phe)
c.307C>T (p.Leu103Phe)
3g.10375471G>CCA351784259ATP2B2c.1240C>G (p.Leu414Val)
c.1342C>G (p.Leu448Val)
c.1375C>G (p.Leu459Val)
c.1282C>G (p.Leu428Val)
c.634C>G (p.Leu212Val)
c.943C>G (p.Leu315Val)
c.307C>G (p.Leu103Val)
3g.10375471G>TCA351784261ATP2B2c.1240C>A (p.Leu414Ile)
c.1342C>A (p.Leu448Ile)
c.1375C>A (p.Leu459Ile)
c.1282C>A (p.Leu428Ile)
c.634C>A (p.Leu212Ile)
c.943C>A (p.Leu315Ile)
c.307C>A (p.Leu103Ile)
3g.10375472C>ACA432441056ATP2B2c.1239G>T (p.Gly413=)
c.1341G>T (p.Gly447=)
c.1374G>T (p.Gly458=)
c.1281G>T (p.Gly427=)
c.633G>T (p.Gly211=)
c.942G>T (p.Gly314=)
c.306G>T (p.Gly102=)
3g.10375472C=CA1345182345ATP2B2c.1239G= (p.Gly413=)
c.1341G= (p.Gly447=)
c.1374G= (p.Gly458=)
c.1281G= (p.Gly427=)
c.633G= (p.Gly211=)
c.942G= (p.Gly314=)
c.306G= (p.Gly102=)
3g.10375472C>GCA432441054ATP2B2c.1239G>C (p.Gly413=)
c.1341G>C (p.Gly447=)
c.1374G>C (p.Gly458=)
c.1281G>C (p.Gly427=)
c.633G>C (p.Gly211=)
c.942G>C (p.Gly314=)
c.306G>C (p.Gly102=)
 dbSNP gnomAD v2
3g.10375472C>TCA432441052ATP2B2c.1239G>A (p.Gly413=)
c.1341G>A (p.Gly447=)
c.1374G>A (p.Gly458=)
c.1281G>A (p.Gly427=)
c.633G>A (p.Gly211=)
c.942G>A (p.Gly314=)
c.306G>A (p.Gly102=)
3g.10375473C>ACA351784263ATP2B2c.1238G>T (p.Gly413Val)
c.1340G>T (p.Gly447Val)
c.1373G>T (p.Gly458Val)
c.1280G>T (p.Gly427Val)
c.632G>T (p.Gly211Val)
c.941G>T (p.Gly314Val)
c.305G>T (p.Gly102Val)
 gnomAD v4
3g.10375473C>GCA351784265ATP2B2c.1238G>C (p.Gly413Ala)
c.1340G>C (p.Gly447Ala)
c.1373G>C (p.Gly458Ala)
c.1280G>C (p.Gly427Ala)
c.632G>C (p.Gly211Ala)
c.941G>C (p.Gly314Ala)
c.305G>C (p.Gly102Ala)
3g.10375473C>TCA351784266ATP2B2c.1238G>A (p.Gly413Glu)
c.1340G>A (p.Gly447Glu)
c.1373G>A (p.Gly458Glu)
c.1280G>A (p.Gly427Glu)
c.632G>A (p.Gly211Glu)
c.941G>A (p.Gly314Glu)
c.305G>A (p.Gly102Glu)
 gnomAD v4 COSMIC COSMIC
3g.10375474C>ACA351784268ATP2B2c.1237G>T (p.Gly413Trp)
c.1339G>T (p.Gly447Trp)
c.1372G>T (p.Gly458Trp)
c.1279G>T (p.Gly427Trp)
c.631G>T (p.Gly211Trp)
c.940G>T (p.Gly314Trp)
c.304G>T (p.Gly102Trp)
3g.10375474C>GCA351784270ATP2B2c.1237G>C (p.Gly413Arg)
c.1339G>C (p.Gly447Arg)
c.1372G>C (p.Gly458Arg)
c.1279G>C (p.Gly427Arg)
c.631G>C (p.Gly211Arg)
c.940G>C (p.Gly314Arg)
c.304G>C (p.Gly102Arg)
3g.10375474C>TCA351784272ATP2B2c.1237G>A (p.Gly413Arg)
c.1339G>A (p.Gly447Arg)
c.1372G>A (p.Gly458Arg)
c.1279G>A (p.Gly427Arg)
c.631G>A (p.Gly211Arg)
c.940G>A (p.Gly314Arg)
c.304G>A (p.Gly102Arg)
3g.10375475C>ACA351784273ATP2B2c.1236G>T (p.Glu412Asp)
c.1338G>T (p.Glu446Asp)
c.1371G>T (p.Glu457Asp)
c.1278G>T (p.Glu426Asp)
c.630G>T (p.Glu210Asp)
c.939G>T (p.Glu313Asp)
c.303G>T (p.Glu101Asp)
3g.10375475C>GCA351784275ATP2B2c.1236G>C (p.Glu412Asp)
c.1338G>C (p.Glu446Asp)
c.1371G>C (p.Glu457Asp)
c.1278G>C (p.Glu426Asp)
c.630G>C (p.Glu210Asp)
c.939G>C (p.Glu313Asp)
c.303G>C (p.Glu101Asp)
3g.10375475C>TCA432441062ATP2B2c.1236G>A (p.Glu412=)
c.1338G>A (p.Glu446=)
c.1371G>A (p.Glu457=)
c.1278G>A (p.Glu426=)
c.630G>A (p.Glu210=)
c.939G>A (p.Glu313=)
c.303G>A (p.Glu101=)
 gnomAD v4
3g.10375476T>ACA351784277ATP2B2c.1235A>T (p.Glu412Val)
c.1337A>T (p.Glu446Val)
c.1370A>T (p.Glu457Val)
c.1277A>T (p.Glu426Val)
c.629A>T (p.Glu210Val)
c.938A>T (p.Glu313Val)
c.302A>T (p.Glu101Val)
3g.10375476T>CCA351784280ATP2B2c.1235A>G (p.Glu412Gly)
c.1337A>G (p.Glu446Gly)
c.1370A>G (p.Glu457Gly)
c.1277A>G (p.Glu426Gly)
c.629A>G (p.Glu210Gly)
c.938A>G (p.Glu313Gly)
c.302A>G (p.Glu101Gly)
3g.10375476T>GCA351784278ATP2B2c.1235A>C (p.Glu412Ala)
c.1337A>C (p.Glu446Ala)
c.1370A>C (p.Glu457Ala)
c.1277A>C (p.Glu426Ala)
c.629A>C (p.Glu210Ala)
c.938A>C (p.Glu313Ala)
c.302A>C (p.Glu101Ala)
3g.10375477C>ACA351784282ATP2B2c.1234G>T (p.Glu412Ter)
c.1336G>T (p.Glu446Ter)
c.1369G>T (p.Glu457Ter)
c.1276G>T (p.Glu426Ter)
c.628G>T (p.Glu210Ter)
c.937G>T (p.Glu313Ter)
c.301G>T (p.Glu101Ter)
3g.10375477C=CA1345182353ATP2B2c.1234G= (p.Glu412=)
c.1336G= (p.Glu446=)
c.1369G= (p.Glu457=)
c.1276G= (p.Glu426=)
c.628G= (p.Glu210=)
c.937G= (p.Glu313=)
c.301G= (p.Glu101=)
3g.10375477C>GCA351784284ATP2B2c.1234G>C (p.Glu412Gln)
c.1336G>C (p.Glu446Gln)
c.1369G>C (p.Glu457Gln)
c.1276G>C (p.Glu426Gln)
c.628G>C (p.Glu210Gln)
c.937G>C (p.Glu313Gln)
c.301G>C (p.Glu101Gln)
 COSMIC COSMIC
3g.10375477C>TCA16617794ATP2B2c.1234G>A (p.Glu412Lys)
c.1336G>A (p.Glu446Lys)
c.1369G>A (p.Glu457Lys)
c.1276G>A (p.Glu426Lys)
c.628G>A (p.Glu210Lys)
c.937G>A (p.Glu313Lys)
c.301G>A (p.Glu101Lys)
 ClinVar dbSNP
3g.10375478G>ACA432441068ATP2B2c.1233C>T (p.Pro411=)
c.1335C>T (p.Pro445=)
c.1368C>T (p.Pro456=)
c.1275C>T (p.Pro425=)
c.627C>T (p.Pro209=)
c.936C>T (p.Pro312=)
c.300C>T (p.Pro100=)
 ClinVar gnomAD v4
3g.10375478G>CCA2253687ATP2B2c.1233C>G (p.Pro411=)
c.1335C>G (p.Pro445=)
c.1368C>G (p.Pro456=)
c.1275C>G (p.Pro425=)
c.627C>G (p.Pro209=)
c.936C>G (p.Pro312=)
c.300C>G (p.Pro100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375478G=CA1345182356ATP2B2c.1233C= (p.Pro411=)
c.1335C= (p.Pro445=)
c.1368C= (p.Pro456=)
c.1275C= (p.Pro425=)
c.627C= (p.Pro209=)
c.936C= (p.Pro312=)
c.300C= (p.Pro100=)
3g.10375478G>TCA2253686ATP2B2c.1233C>A (p.Pro411=)
c.1335C>A (p.Pro445=)
c.1368C>A (p.Pro456=)
c.1275C>A (p.Pro425=)
c.627C>A (p.Pro209=)
c.936C>A (p.Pro312=)
c.300C>A (p.Pro100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375479G>ACA351784288ATP2B2c.1232C>T (p.Pro411Leu)
c.1334C>T (p.Pro445Leu)
c.1367C>T (p.Pro456Leu)
c.1274C>T (p.Pro425Leu)
c.626C>T (p.Pro209Leu)
c.935C>T (p.Pro312Leu)
c.299C>T (p.Pro100Leu)
3g.10375479G>CCA351784289ATP2B2c.1232C>G (p.Pro411Arg)
c.1334C>G (p.Pro445Arg)
c.1367C>G (p.Pro456Arg)
c.1274C>G (p.Pro425Arg)
c.626C>G (p.Pro209Arg)
c.935C>G (p.Pro312Arg)
c.299C>G (p.Pro100Arg)
3g.10375479G>TCA351784291ATP2B2c.1232C>A (p.Pro411His)
c.1334C>A (p.Pro445His)
c.1367C>A (p.Pro456His)
c.1274C>A (p.Pro425His)
c.626C>A (p.Pro209His)
c.935C>A (p.Pro312His)
c.299C>A (p.Pro100His)
3g.10375480G>ACA351784293ATP2B2c.1231C>T (p.Pro411Ser)
c.1333C>T (p.Pro445Ser)
c.1366C>T (p.Pro456Ser)
c.1273C>T (p.Pro425Ser)
c.625C>T (p.Pro209Ser)
c.934C>T (p.Pro312Ser)
c.298C>T (p.Pro100Ser)
3g.10375480G>CCA351784295ATP2B2c.1231C>G (p.Pro411Ala)
c.1333C>G (p.Pro445Ala)
c.1366C>G (p.Pro456Ala)
c.1273C>G (p.Pro425Ala)
c.625C>G (p.Pro209Ala)
c.934C>G (p.Pro312Ala)
c.298C>G (p.Pro100Ala)
3g.10375480G>TCA351784296ATP2B2c.1231C>A (p.Pro411Thr)
c.1333C>A (p.Pro445Thr)
c.1366C>A (p.Pro456Thr)
c.1273C>A (p.Pro425Thr)
c.625C>A (p.Pro209Thr)
c.934C>A (p.Pro312Thr)
c.298C>A (p.Pro100Thr)
3g.10375481C>ACA432441077ATP2B2c.1230G>T (p.Val410=)
c.1332G>T (p.Val444=)
c.1365G>T (p.Val455=)
c.1272G>T (p.Val424=)
c.624G>T (p.Val208=)
c.933G>T (p.Val311=)
c.297G>T (p.Val99=)
3g.10375481C>GCA432441079ATP2B2c.1230G>C (p.Val410=)
c.1332G>C (p.Val444=)
c.1365G>C (p.Val455=)
c.1272G>C (p.Val424=)
c.624G>C (p.Val208=)
c.933G>C (p.Val311=)
c.297G>C (p.Val99=)
3g.10375481C>TCA432441081ATP2B2c.1230G>A (p.Val410=)
c.1332G>A (p.Val444=)
c.1365G>A (p.Val455=)
c.1272G>A (p.Val424=)
c.624G>A (p.Val208=)
c.933G>A (p.Val311=)
c.297G>A (p.Val99=)
3g.10375482A>CCA351784298ATP2B2c.1229T>G (p.Val410Gly)
c.1331T>G (p.Val444Gly)
c.1364T>G (p.Val455Gly)
c.1271T>G (p.Val424Gly)
c.623T>G (p.Val208Gly)
c.932T>G (p.Val311Gly)
c.296T>G (p.Val99Gly)
3g.10375482A>GCA351784300ATP2B2c.1229T>C (p.Val410Ala)
c.1331T>C (p.Val444Ala)
c.1364T>C (p.Val455Ala)
c.1271T>C (p.Val424Ala)
c.623T>C (p.Val208Ala)
c.932T>C (p.Val311Ala)
c.296T>C (p.Val99Ala)
3g.10375482A>TCA351784302ATP2B2c.1229T>A (p.Val410Glu)
c.1331T>A (p.Val444Glu)
c.1364T>A (p.Val455Glu)
c.1271T>A (p.Val424Glu)
c.623T>A (p.Val208Glu)
c.932T>A (p.Val311Glu)
c.296T>A (p.Val99Glu)
3g.10375483C>ACA351784307ATP2B2c.1228G>T (p.Val410Leu)
c.1330G>T (p.Val444Leu)
c.1363G>T (p.Val455Leu)
c.1270G>T (p.Val424Leu)
c.622G>T (p.Val208Leu)
c.931G>T (p.Val311Leu)
c.295G>T (p.Val99Leu)
3g.10375483C=CA1345182362ATP2B2c.1228G= (p.Val410=)
c.1330G= (p.Val444=)
c.1363G= (p.Val455=)
c.1270G= (p.Val424=)
c.622G= (p.Val208=)
c.931G= (p.Val311=)
c.295G= (p.Val99=)
3g.10375483C>GCA351784303ATP2B2c.1228G>C (p.Val410Leu)
c.1330G>C (p.Val444Leu)
c.1363G>C (p.Val455Leu)
c.1270G>C (p.Val424Leu)
c.622G>C (p.Val208Leu)
c.931G>C (p.Val311Leu)
c.295G>C (p.Val99Leu)
3g.10375483C>TCA351784305ATP2B2c.1228G>A (p.Val410Met)
c.1330G>A (p.Val444Met)
c.1363G>A (p.Val455Met)
c.1270G>A (p.Val424Met)
c.622G>A (p.Val208Met)
c.931G>A (p.Val311Met)
c.295G>A (p.Val99Met)
 dbSNP gnomAD v4
3g.10375484G>ACA2253688ATP2B2c.1227C>T (p.Ala409=)
c.1329C>T (p.Ala443=)
c.1362C>T (p.Ala454=)
c.1269C>T (p.Ala423=)
c.621C>T (p.Ala207=)
c.930C>T (p.Ala310=)
c.294C>T (p.Ala98=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375484G>CCA432441089ATP2B2c.1227C>G (p.Ala409=)
c.1329C>G (p.Ala443=)
c.1362C>G (p.Ala454=)
c.1269C>G (p.Ala423=)
c.621C>G (p.Ala207=)
c.930C>G (p.Ala310=)
c.294C>G (p.Ala98=)
 gnomAD v4
3g.10375484G=CA1345182364ATP2B2c.1227C= (p.Ala409=)
c.1329C= (p.Ala443=)
c.1362C= (p.Ala454=)
c.1269C= (p.Ala423=)
c.621C= (p.Ala207=)
c.930C= (p.Ala310=)
c.294C= (p.Ala98=)
3g.10375484G>TCA432441091ATP2B2c.1227C>A (p.Ala409=)
c.1329C>A (p.Ala443=)
c.1362C>A (p.Ala454=)
c.1269C>A (p.Ala423=)
c.621C>A (p.Ala207=)
c.930C>A (p.Ala310=)
c.294C>A (p.Ala98=)
3g.10375485G>ACA351784309ATP2B2c.1226C>T (p.Ala409Val)
c.1328C>T (p.Ala443Val)
c.1361C>T (p.Ala454Val)
c.1268C>T (p.Ala423Val)
c.620C>T (p.Ala207Val)
c.929C>T (p.Ala310Val)
c.293C>T (p.Ala98Val)
3g.10375485G>CCA351784310ATP2B2c.1226C>G (p.Ala409Gly)
c.1328C>G (p.Ala443Gly)
c.1361C>G (p.Ala454Gly)
c.1268C>G (p.Ala423Gly)
c.620C>G (p.Ala207Gly)
c.929C>G (p.Ala310Gly)
c.293C>G (p.Ala98Gly)
3g.10375485G>TCA351784312ATP2B2c.1226C>A (p.Ala409Asp)
c.1328C>A (p.Ala443Asp)
c.1361C>A (p.Ala454Asp)
c.1268C>A (p.Ala423Asp)
c.620C>A (p.Ala207Asp)
c.929C>A (p.Ala310Asp)
c.293C>A (p.Ala98Asp)
3g.10375486C>ACA351784314ATP2B2c.1225G>T (p.Ala409Ser)
c.1327G>T (p.Ala443Ser)
c.1360G>T (p.Ala454Ser)
c.1267G>T (p.Ala423Ser)
c.619G>T (p.Ala207Ser)
c.928G>T (p.Ala310Ser)
c.292G>T (p.Ala98Ser)
3g.10375486C>GCA351784316ATP2B2c.1225G>C (p.Ala409Pro)
c.1327G>C (p.Ala443Pro)
c.1360G>C (p.Ala454Pro)
c.1267G>C (p.Ala423Pro)
c.619G>C (p.Ala207Pro)
c.928G>C (p.Ala310Pro)
c.292G>C (p.Ala98Pro)
3g.10375486C>TCA351784317ATP2B2c.1225G>A (p.Ala409Thr)
c.1327G>A (p.Ala443Thr)
c.1360G>A (p.Ala454Thr)
c.1267G>A (p.Ala423Thr)
c.619G>A (p.Ala207Thr)
c.928G>A (p.Ala310Thr)
c.292G>A (p.Ala98Thr)
 gnomAD v4
3g.10375487G>ACA70116156ATP2B2c.1224C>T (p.Val408=)
c.1326C>T (p.Val442=)
c.1359C>T (p.Val453=)
c.1266C>T (p.Val422=)
c.618C>T (p.Val206=)
c.927C>T (p.Val309=)
c.291C>T (p.Val97=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375487G>CCA432441097ATP2B2c.1224C>G (p.Val408=)
c.1326C>G (p.Val442=)
c.1359C>G (p.Val453=)
c.1266C>G (p.Val422=)
c.618C>G (p.Val206=)
c.927C>G (p.Val309=)
c.291C>G (p.Val97=)
3g.10375487G=CA1345182367ATP2B2c.1224C= (p.Val408=)
c.1326C= (p.Val442=)
c.1359C= (p.Val453=)
c.1266C= (p.Val422=)
c.618C= (p.Val206=)
c.927C= (p.Val309=)
c.291C= (p.Val97=)
3g.10375487G>TCA432441099ATP2B2c.1224C>A (p.Val408=)
c.1326C>A (p.Val442=)
c.1359C>A (p.Val453=)
c.1266C>A (p.Val422=)
c.618C>A (p.Val206=)
c.927C>A (p.Val309=)
c.291C>A (p.Val97=)
 gnomAD v4 COSMIC COSMIC
3g.10375488A>CCA351784319ATP2B2c.1223T>G (p.Val408Gly)
c.1325T>G (p.Val442Gly)
c.1358T>G (p.Val453Gly)
c.1265T>G (p.Val422Gly)
c.617T>G (p.Val206Gly)
c.926T>G (p.Val309Gly)
c.290T>G (p.Val97Gly)
3g.10375488A>GCA351784321ATP2B2c.1223T>C (p.Val408Ala)
c.1325T>C (p.Val442Ala)
c.1358T>C (p.Val453Ala)
c.1265T>C (p.Val422Ala)
c.617T>C (p.Val206Ala)
c.926T>C (p.Val309Ala)
c.290T>C (p.Val97Ala)
3g.10375488A>TCA351784322ATP2B2c.1223T>A (p.Val408Asp)
c.1325T>A (p.Val442Asp)
c.1358T>A (p.Val453Asp)
c.1265T>A (p.Val422Asp)
c.617T>A (p.Val206Asp)
c.926T>A (p.Val309Asp)
c.290T>A (p.Val97Asp)
3g.10375489C>ACA351784324ATP2B2c.1222G>T (p.Val408Phe)
c.1324G>T (p.Val442Phe)
c.1357G>T (p.Val453Phe)
c.1264G>T (p.Val422Phe)
c.616G>T (p.Val206Phe)
c.925G>T (p.Val309Phe)
c.289G>T (p.Val97Phe)
3g.10375489C>GCA351784326ATP2B2c.1222G>C (p.Val408Leu)
c.1324G>C (p.Val442Leu)
c.1357G>C (p.Val453Leu)
c.1264G>C (p.Val422Leu)
c.616G>C (p.Val206Leu)
c.925G>C (p.Val309Leu)
c.289G>C (p.Val97Leu)
3g.10375489C>TCA351784323ATP2B2c.1222G>A (p.Val408Ile)
c.1324G>A (p.Val442Ile)
c.1357G>A (p.Val453Ile)
c.1264G>A (p.Val422Ile)
c.616G>A (p.Val206Ile)
c.925G>A (p.Val309Ile)
c.289G>A (p.Val97Ile)
3g.10375490C>ACA432441106ATP2B2c.1221G>T (p.Val407=)
c.1323G>T (p.Val441=)
c.1356G>T (p.Val452=)
c.1263G>T (p.Val421=)
c.615G>T (p.Val205=)
c.924G>T (p.Val308=)
c.288G>T (p.Val96=)
3g.10375490C=CA1345182372ATP2B2c.1221G= (p.Val407=)
c.1323G= (p.Val441=)
c.1356G= (p.Val452=)
c.1263G= (p.Val421=)
c.615G= (p.Val205=)
c.924G= (p.Val308=)
c.288G= (p.Val96=)
3g.10375490C>GCA432441107ATP2B2c.1221G>C (p.Val407=)
c.1323G>C (p.Val441=)
c.1356G>C (p.Val452=)
c.1263G>C (p.Val421=)
c.615G>C (p.Val205=)
c.924G>C (p.Val308=)
c.288G>C (p.Val96=)
3g.10375490C>TCA432441109ATP2B2c.1221G>A (p.Val407=)
c.1323G>A (p.Val441=)
c.1356G>A (p.Val452=)
c.1263G>A (p.Val421=)
c.615G>A (p.Val205=)
c.924G>A (p.Val308=)
c.288G>A (p.Val96=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375491A>CCA351784328ATP2B2c.1220T>G (p.Val407Gly)
c.1322T>G (p.Val441Gly)
c.1355T>G (p.Val452Gly)
c.1262T>G (p.Val421Gly)
c.614T>G (p.Val205Gly)
c.923T>G (p.Val308Gly)
c.287T>G (p.Val96Gly)
3g.10375491A>GCA351784330ATP2B2c.1220T>C (p.Val407Ala)
c.1322T>C (p.Val441Ala)
c.1355T>C (p.Val452Ala)
c.1262T>C (p.Val421Ala)
c.614T>C (p.Val205Ala)
c.923T>C (p.Val308Ala)
c.287T>C (p.Val96Ala)
3g.10375491A>TCA351784331ATP2B2c.1220T>A (p.Val407Glu)
c.1322T>A (p.Val441Glu)
c.1355T>A (p.Val452Glu)
c.1262T>A (p.Val421Glu)
c.614T>A (p.Val205Glu)
c.923T>A (p.Val308Glu)
c.287T>A (p.Val96Glu)
3g.10375492C>ACA351784332ATP2B2c.1219G>T (p.Val407Leu)
c.1321G>T (p.Val441Leu)
c.1354G>T (p.Val452Leu)
c.1261G>T (p.Val421Leu)
c.613G>T (p.Val205Leu)
c.922G>T (p.Val308Leu)
c.286G>T (p.Val96Leu)
3g.10375492C>GCA351784333ATP2B2c.1219G>C (p.Val407Leu)
c.1321G>C (p.Val441Leu)
c.1354G>C (p.Val452Leu)
c.1261G>C (p.Val421Leu)
c.613G>C (p.Val205Leu)
c.922G>C (p.Val308Leu)
c.286G>C (p.Val96Leu)
3g.10375492C>TCA351784335ATP2B2c.1219G>A (p.Val407Met)
c.1321G>A (p.Val441Met)
c.1354G>A (p.Val452Met)
c.1261G>A (p.Val421Met)
c.613G>A (p.Val205Met)
c.922G>A (p.Val308Met)
c.286G>A (p.Val96Met)
3g.10375493C>ACA432441118ATP2B2c.1218G>T (p.Leu406=)
c.1320G>T (p.Leu440=)
c.1353G>T (p.Leu451=)
c.1260G>T (p.Leu420=)
c.612G>T (p.Leu204=)
c.921G>T (p.Leu307=)
c.285G>T (p.Leu95=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375493C=CA1345182376ATP2B2c.1218G= (p.Leu406=)
c.1320G= (p.Leu440=)
c.1353G= (p.Leu451=)
c.1260G= (p.Leu420=)
c.612G= (p.Leu204=)
c.921G= (p.Leu307=)
c.285G= (p.Leu95=)
3g.10375493C>GCA432441116ATP2B2c.1218G>C (p.Leu406=)
c.1320G>C (p.Leu440=)
c.1353G>C (p.Leu451=)
c.1260G>C (p.Leu420=)
c.612G>C (p.Leu204=)
c.921G>C (p.Leu307=)
c.285G>C (p.Leu95=)
3g.10375493C>TCA2253689ATP2B2c.1218G>A (p.Leu406=)
c.1320G>A (p.Leu440=)
c.1353G>A (p.Leu451=)
c.1260G>A (p.Leu420=)
c.612G>A (p.Leu204=)
c.921G>A (p.Leu307=)
c.285G>A (p.Leu95=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375494A>CCA351784338ATP2B2c.1217T>G (p.Leu406Arg)
c.1319T>G (p.Leu440Arg)
c.1352T>G (p.Leu451Arg)
c.1259T>G (p.Leu420Arg)
c.611T>G (p.Leu204Arg)
c.920T>G (p.Leu307Arg)
c.284T>G (p.Leu95Arg)
3g.10375494A>GCA351784339ATP2B2c.1217T>C (p.Leu406Pro)
c.1319T>C (p.Leu440Pro)
c.1352T>C (p.Leu451Pro)
c.1259T>C (p.Leu420Pro)
c.611T>C (p.Leu204Pro)
c.920T>C (p.Leu307Pro)
c.284T>C (p.Leu95Pro)
3g.10375494A>TCA351784340ATP2B2c.1217T>A (p.Leu406Gln)
c.1319T>A (p.Leu440Gln)
c.1352T>A (p.Leu451Gln)
c.1259T>A (p.Leu420Gln)
c.611T>A (p.Leu204Gln)
c.920T>A (p.Leu307Gln)
c.284T>A (p.Leu95Gln)
3g.10375495G>ACA432441123ATP2B2c.1216C>T (p.Leu406=)
c.1318C>T (p.Leu440=)
c.1351C>T (p.Leu451=)
c.1258C>T (p.Leu420=)
c.610C>T (p.Leu204=)
c.919C>T (p.Leu307=)
c.283C>T (p.Leu95=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375495G>CCA351784342ATP2B2c.1216C>G (p.Leu406Val)
c.1318C>G (p.Leu440Val)
c.1351C>G (p.Leu451Val)
c.1258C>G (p.Leu420Val)
c.610C>G (p.Leu204Val)
c.919C>G (p.Leu307Val)
c.283C>G (p.Leu95Val)
3g.10375495G=CA1345182378ATP2B2c.1216C= (p.Leu406=)
c.1318C= (p.Leu440=)
c.1351C= (p.Leu451=)
c.1258C= (p.Leu420=)
c.610C= (p.Leu204=)
c.919C= (p.Leu307=)
c.283C= (p.Leu95=)
3g.10375495G>TCA351784344ATP2B2c.1216C>A (p.Leu406Met)
c.1318C>A (p.Leu440Met)
c.1351C>A (p.Leu451Met)
c.1258C>A (p.Leu420Met)
c.610C>A (p.Leu204Met)
c.919C>A (p.Leu307Met)
c.283C>A (p.Leu95Met)
3g.10375496C>ACA432441127ATP2B2c.1215G>T (p.Val405=)
c.1317G>T (p.Val439=)
c.1350G>T (p.Val450=)
c.1257G>T (p.Val419=)
c.609G>T (p.Val203=)
c.918G>T (p.Val306=)
c.282G>T (p.Val94=)
3g.10375496C>GCA432441130ATP2B2c.1215G>C (p.Val405=)
c.1317G>C (p.Val439=)
c.1350G>C (p.Val450=)
c.1257G>C (p.Val419=)
c.609G>C (p.Val203=)
c.918G>C (p.Val306=)
c.282G>C (p.Val94=)
3g.10375496C>TCA432441129ATP2B2c.1215G>A (p.Val405=)
c.1317G>A (p.Val439=)
c.1350G>A (p.Val450=)
c.1257G>A (p.Val419=)
c.609G>A (p.Val203=)
c.918G>A (p.Val306=)
c.282G>A (p.Val94=)
3g.10375497A>CCA351784347ATP2B2c.1214T>G (p.Val405Gly)
c.1316T>G (p.Val439Gly)
c.1349T>G (p.Val450Gly)
c.1256T>G (p.Val419Gly)
c.608T>G (p.Val203Gly)
c.917T>G (p.Val306Gly)
c.281T>G (p.Val94Gly)
3g.10375497A>GCA351784349ATP2B2c.1214T>C (p.Val405Ala)
c.1316T>C (p.Val439Ala)
c.1349T>C (p.Val450Ala)
c.1256T>C (p.Val419Ala)
c.608T>C (p.Val203Ala)
c.917T>C (p.Val306Ala)
c.281T>C (p.Val94Ala)
3g.10375497A>TCA351784346ATP2B2c.1214T>A (p.Val405Glu)
c.1316T>A (p.Val439Glu)
c.1349T>A (p.Val450Glu)
c.1256T>A (p.Val419Glu)
c.608T>A (p.Val203Glu)
c.917T>A (p.Val306Glu)
c.281T>A (p.Val94Glu)
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=)

Number of alleles fetched