Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28900644T>ACA395411036ATP2A1c.1828T>A (p.Ser610Thr)
c.1453T>A (p.Ser485Thr)
16g.28900644T>CCA395411038ATP2A1c.1828T>C (p.Ser610Pro)
c.1453T>C (p.Ser485Pro)
16g.28900644T>GCA395411037ATP2A1c.1828T>G (p.Ser610Ala)
c.1453T>G (p.Ser485Ala)
16g.28900645C>ACA395411039ATP2A1c.1829C>A (p.Ser610Tyr)
c.1454C>A (p.Ser485Tyr)
16g.28900645C>GCA395411040ATP2A1c.1829C>G (p.Ser610Cys)
c.1454C>G (p.Ser485Cys)
16g.28900645C>TCA395411041ATP2A1c.1829C>T (p.Ser610Phe)
c.1454C>T (p.Ser485Phe)
16g.28900646C>ACA494874320ATP2A1c.1830C>A (p.Ser610=)
c.1455C>A (p.Ser485=)
gnomAD v4
16g.28900646C=CA2215884562ATP2A1c.1830C= (p.Ser610=)
c.1455C= (p.Ser485=)
16g.28900646C>GCA494874321ATP2A1c.1830C>G (p.Ser610=)
c.1455C>G (p.Ser485=)
16g.28900646C>TCA279240150ATP2A1c.1830C>T (p.Ser610=)
c.1455C>T (p.Ser485=)
dbSNP
16g.28900647A>CCA395411042ATP2A1c.1831A>C (p.Ile611Leu)
c.1456A>C (p.Ile486Leu)
16g.28900647A>GCA395411043ATP2A1c.1831A>G (p.Ile611Val)
c.1456A>G (p.Ile486Val)
16g.28900647A>TCA395411044ATP2A1c.1831A>T (p.Ile611Phe)
c.1456A>T (p.Ile486Phe)
16g.28900648T>ACA395411045ATP2A1c.1832T>A (p.Ile611Asn)
c.1457T>A (p.Ile486Asn)
16g.28900648T>CCA395411046ATP2A1c.1832T>C (p.Ile611Thr)
c.1457T>C (p.Ile486Thr)
16g.28900648T>GCA395411047ATP2A1c.1832T>G (p.Ile611Ser)
c.1457T>G (p.Ile486Ser)
16g.28900649C>ACA494874322ATP2A1c.1833C>A (p.Ile611=)
c.1458C>A (p.Ile486=)
16g.28900649C>GCA395411048ATP2A1c.1833C>G (p.Ile611Met)
c.1458C>G (p.Ile486Met)
COSMIC
16g.28900649C>TCA494874323ATP2A1c.1833C>T (p.Ile611=)
c.1458C>T (p.Ile486=)
16g.28900650C>ACA395411051ATP2A1c.1834C>A (p.Gln612Lys)
c.1459C>A (p.Gln487Lys)
16g.28900650C>GCA395411050ATP2A1c.1834C>G (p.Gln612Glu)
c.1459C>G (p.Gln487Glu)
16g.28900650C>TCA395411049ATP2A1c.1834C>T (p.Gln612Ter)
c.1459C>T (p.Gln487Ter)
gnomAD v4
16g.28900651_28900658dupCA2632539929ATP2A1c.1835_1842dup (p.Arg615SerfsTer10)
c.1460_1467dup (p.Arg490SerfsTer10)
gnomAD v4
16g.28900651A>CCA395411052ATP2A1c.1835A>C (p.Gln612Pro)
c.1460A>C (p.Gln487Pro)
16g.28900651A>GCA395411054ATP2A1c.1835A>G (p.Gln612Arg)
c.1460A>G (p.Gln487Arg)
16g.28900651A>TCA395411053ATP2A1c.1835A>T (p.Gln612Leu)
c.1460A>T (p.Gln487Leu)
16g.28900652G>ACA494874324ATP2A1c.1836G>A (p.Gln612=)
c.1461G>A (p.Gln487=)
dbSNP
16g.28900652G>CCA395411055ATP2A1c.1836G>C (p.Gln612His)
c.1461G>C (p.Gln487His)
dbSNP gnomAD v4
16g.28900652G=CA2215884569ATP2A1c.1836G= (p.Gln612=)
c.1461G= (p.Gln487=)
16g.28900652G>TCA395411056ATP2A1c.1836G>T (p.Gln612His)
c.1461G>T (p.Gln487His)
16g.28900653C>ACA395411057ATP2A1c.1837C>A (p.Leu613Met)
c.1462C>A (p.Leu488Met)
16g.28900653C=CA2215884572ATP2A1c.1837C= (p.Leu613=)
c.1462C= (p.Leu488=)
16g.28900653C>GCA395411058ATP2A1c.1837C>G (p.Leu613Val)
c.1462C>G (p.Leu488Val)
16g.28900653C>TCA7987096ATP2A1c.1837C>T (p.Leu613=)
c.1462C>T (p.Leu488=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900654T>ACA395411059ATP2A1c.1838T>A (p.Leu613Gln)
c.1463T>A (p.Leu488Gln)
16g.28900654T>CCA395411060ATP2A1c.1838T>C (p.Leu613Pro)
c.1463T>C (p.Leu488Pro)
16g.28900654T>GCA395411061ATP2A1c.1838T>G (p.Leu613Arg)
c.1463T>G (p.Leu488Arg)
16g.28900655G>ACA494874325ATP2A1c.1839G>A (p.Leu613=)
c.1464G>A (p.Leu488=)
dbSNP gnomAD v4
16g.28900655G>CCA494874326ATP2A1c.1839G>C (p.Leu613=)
c.1464G>C (p.Leu488=)
16g.28900655G>TCA494874327ATP2A1c.1839G>T (p.Leu613=)
c.1464G>T (p.Leu488=)
16g.28900656T>ACA395411062ATP2A1c.1840T>A (p.Cys614Ser)
c.1465T>A (p.Cys489Ser)
16g.28900656T>CCA395411063ATP2A1c.1840T>C (p.Cys614Arg)
c.1465T>C (p.Cys489Arg)
gnomAD v4
16g.28900656T>GCA395411064ATP2A1c.1840T>G (p.Cys614Gly)
c.1465T>G (p.Cys489Gly)
16g.28900657G>ACA395411065ATP2A1c.1841G>A (p.Cys614Tyr)
c.1466G>A (p.Cys489Tyr)
16g.28900657G>CCA395411066ATP2A1c.1841G>C (p.Cys614Ser)
c.1466G>C (p.Cys489Ser)
16g.28900657G>TCA395411067ATP2A1c.1841G>T (p.Cys614Phe)
c.1466G>T (p.Cys489Phe)
16g.28900658C>ACA395411069ATP2A1c.1842C>A (p.Cys614Ter)
c.1467C>A (p.Cys489Ter)
16g.28900658C=CA2215884579ATP2A1c.1842C= (p.Cys614=)
c.1467C= (p.Cys489=)
16g.28900658C>GCA395411068ATP2A1c.1842C>G (p.Cys614Trp)
c.1467C>G (p.Cys489Trp)
16g.28900658C>TCA494874328ATP2A1c.1842C>T (p.Cys614=)
c.1467C>T (p.Cys489=)
dbSNP gnomAD v2 gnomAD v4
16g.28900659C>ACA395411070ATP2A1c.1843C>A (p.Arg615Ser)
c.1468C>A (p.Arg490Ser)
16g.28900659C=CA2215884587ATP2A1c.1843C= (p.Arg615=)
c.1468C= (p.Arg490=)
16g.28900659C>GCA395411071ATP2A1c.1843C>G (p.Arg615Gly)
c.1468C>G (p.Arg490Gly)
ClinVar dbSNP gnomAD v4
16g.28900659C>TCA7987097ATP2A1c.1843C>T (p.Arg615Cys)
c.1468C>T (p.Arg490Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900660G>ACA7987098ATP2A1c.1844G>A (p.Arg615His)
c.1469G>A (p.Arg490His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.28900660G>CCA395411072ATP2A1c.1844G>C (p.Arg615Pro)
c.1469G>C (p.Arg490Pro)
gnomAD v4
16g.28900660G=CA2215884594ATP2A1c.1844G= (p.Arg615=)
c.1469G= (p.Arg490=)
16g.28900660G>TCA395411073ATP2A1c.1844G>T (p.Arg615Leu)
c.1469G>T (p.Arg490Leu)
16g.28900661T>ACA494874329ATP2A1c.1845T>A (p.Arg615=)
c.1470T>A (p.Arg490=)
dbSNP
16g.28900661T>CCA494874330ATP2A1c.1845T>C (p.Arg615=)
c.1470T>C (p.Arg490=)
16g.28900661T>GCA494874331ATP2A1c.1845T>G (p.Arg615=)
c.1470T>G (p.Arg490=)
16g.28900662G>ACA395411074ATP2A1c.1846G>A (p.Asp616Asn)
c.1471G>A (p.Asp491Asn)
16g.28900662G>CCA395411075ATP2A1c.1846G>C (p.Asp616His)
c.1471G>C (p.Asp491His)
16g.28900662G>TCA395411076ATP2A1c.1846G>T (p.Asp616Tyr)
c.1471G>T (p.Asp491Tyr)
16g.28900663A>CCA395411077ATP2A1c.1847A>C (p.Asp616Ala)
c.1472A>C (p.Asp491Ala)
16g.28900663A>GCA395411078ATP2A1c.1847A>G (p.Asp616Gly)
c.1472A>G (p.Asp491Gly)
gnomAD v4
16g.28900663A>TCA395411079ATP2A1c.1847A>T (p.Asp616Val)
c.1472A>T (p.Asp491Val)
COSMIC COSMIC
16g.28900664C>ACA395411081ATP2A1c.1848C>A (p.Asp616Glu)
c.1473C>A (p.Asp491Glu)
16g.28900664C=CA2215884598ATP2A1c.1848C= (p.Asp616=)
c.1473C= (p.Asp491=)
16g.28900664C>GCA395411080ATP2A1c.1848C>G (p.Asp616Glu)
c.1473C>G (p.Asp491Glu)
16g.28900664C>TCA7987099ATP2A1c.1848C>T (p.Asp616=)
c.1473C>T (p.Asp491=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900665G>ACA395411082ATP2A1c.1849G>A (p.Ala617Thr)
c.1474G>A (p.Ala492Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.28900665G>CCA395411083ATP2A1c.1849G>C (p.Ala617Pro)
c.1474G>C (p.Ala492Pro)
16g.28900665G=CA2215884606ATP2A1c.1849G= (p.Ala617=)
c.1474G= (p.Ala492=)
16g.28900665G>TCA395411084ATP2A1c.1849G>T (p.Ala617Ser)
c.1474G>T (p.Ala492Ser)
16g.28900666C>ACA395411085ATP2A1c.1850C>A (p.Ala617Asp)
c.1475C>A (p.Ala492Asp)
16g.28900666C>GCA395411086ATP2A1c.1850C>G (p.Ala617Gly)
c.1475C>G (p.Ala492Gly)
16g.28900666C>TCA395411087ATP2A1c.1850C>T (p.Ala617Val)
c.1475C>T (p.Ala492Val)
16g.28900667C>ACA7987101ATP2A1c.1851C>A (p.Ala617=)
c.1476C>A (p.Ala492=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900667C=CA2215884617ATP2A1c.1851C= (p.Ala617=)
c.1476C= (p.Ala492=)
16g.28900667C>GCA494874332ATP2A1c.1851C>G (p.Ala617=)
c.1476C>G (p.Ala492=)
dbSNP gnomAD v4
16g.28900667C>TCA7987100ATP2A1c.1851C>T (p.Ala617=)
c.1476C>T (p.Ala492=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900668G>ACA7987102ATP2A1c.1852G>A (p.Gly618Arg)
c.1477G>A (p.Gly493Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900668G>CCA395411088ATP2A1c.1852G>C (p.Gly618Arg)
c.1477G>C (p.Gly493Arg)
16g.28900668G=CA2215884632ATP2A1c.1852G= (p.Gly618=)
c.1477G= (p.Gly493=)
16g.28900668G>TCA395411089ATP2A1c.1852G>T (p.Gly618Trp)
c.1477G>T (p.Gly493Trp)
16g.28900669G>ACA395411090ATP2A1c.1853G>A (p.Gly618Glu)
c.1478G>A (p.Gly493Glu)
16g.28900669G>CCA395411091ATP2A1c.1853G>C (p.Gly618Ala)
c.1478G>C (p.Gly493Ala)
16g.28900669G>TCA395411092ATP2A1c.1853G>T (p.Gly618Val)
c.1478G>T (p.Gly493Val)
16g.28900670G>ACA7987103ATP2A1c.1854G>A (p.Gly618=)
c.1479G>A (p.Gly493=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.28900670G>CCA494874333ATP2A1c.1854G>C (p.Gly618=)
c.1479G>C (p.Gly493=)
16g.28900670G=CA2215884637ATP2A1c.1854G= (p.Gly618=)
c.1479G= (p.Gly493=)
16g.28900670G>TCA494874334ATP2A1c.1854G>T (p.Gly618=)
c.1479G>T (p.Gly493=)
16g.28900671A>CCA395411093ATP2A1c.1855A>C (p.Ile619Leu)
c.1480A>C (p.Ile494Leu)
16g.28900671A>GCA395411094ATP2A1c.1855A>G (p.Ile619Val)
c.1480A>G (p.Ile494Val)
gnomAD v4
16g.28900671A>TCA395411095ATP2A1c.1855A>T (p.Ile619Phe)
c.1480A>T (p.Ile494Phe)
16g.28900672T>ACA395411096ATP2A1c.1856T>A (p.Ile619Asn)
c.1481T>A (p.Ile494Asn)
16g.28900672T>CCA395411097ATP2A1c.1856T>C (p.Ile619Thr)
c.1481T>C (p.Ile494Thr)
16g.28900672T>GCA395411098ATP2A1c.1856T>G (p.Ile619Ser)
c.1481T>G (p.Ile494Ser)
16g.28900673C>ACA494874336ATP2A1c.1857C>A (p.Ile619=)
c.1482C>A (p.Ile494=)
16g.28900673C>GCA395411099ATP2A1c.1857C>G (p.Ile619Met)
c.1482C>G (p.Ile494Met)
16g.28900673C>TCA494874335ATP2A1c.1857C>T (p.Ile619=)
c.1482C>T (p.Ile494=)
16g.28900674C>ACA494874337ATP2A1c.1858C>A (p.Arg620=)
c.1483C>A (p.Arg495=)
16g.28900674C=CA2215884643ATP2A1c.1858C= (p.Arg620=)
c.1483C= (p.Arg495=)
16g.28900674C>GCA395411100ATP2A1c.1858C>G (p.Arg620Gly)
c.1483C>G (p.Arg495Gly)
16g.28900674C>TCA7987104ATP2A1c.1858C>T (p.Arg620Trp)
c.1483C>T (p.Arg495Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900675G>ACA7987105ATP2A1c.1859G>A (p.Arg620Gln)
c.1484G>A (p.Arg495Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900675G>CCA395411101ATP2A1c.1859G>C (p.Arg620Pro)
c.1484G>C (p.Arg495Pro)
16g.28900675G=CA2215884654ATP2A1c.1859G= (p.Arg620=)
c.1484G= (p.Arg495=)
16g.28900675G>TCA395411102ATP2A1c.1859G>T (p.Arg620Leu)
c.1484G>T (p.Arg495Leu)
16g.28900676G>ACA494874338ATP2A1c.1860G>A (p.Arg620=)
c.1485G>A (p.Arg495=)
dbSNP
16g.28900676G>CCA494874339ATP2A1c.1860G>C (p.Arg620=)
c.1485G>C (p.Arg495=)
16g.28900676G=CA2215884664ATP2A1c.1860G= (p.Arg620=)
c.1485G= (p.Arg495=)
16g.28900676G>TCA494874340ATP2A1c.1860G>T (p.Arg620=)
c.1485G>T (p.Arg495=)
16g.28900677G>ACA395411105ATP2A1c.1861G>A (p.Val621Met)
c.1486G>A (p.Val496Met)
16g.28900677G>CCA395411104ATP2A1c.1861G>C (p.Val621Leu)
c.1486G>C (p.Val496Leu)
16g.28900677G>TCA395411103ATP2A1c.1861G>T (p.Val621Leu)
c.1486G>T (p.Val496Leu)
16g.28900678T>ACA395411106ATP2A1c.1862T>A (p.Val621Glu)
c.1487T>A (p.Val496Glu)
16g.28900678T>CCA395411107ATP2A1c.1862T>C (p.Val621Ala)
c.1487T>C (p.Val496Ala)
16g.28900678T>GCA395411108ATP2A1c.1862T>G (p.Val621Gly)
c.1487T>G (p.Val496Gly)
dbSNP
16g.28900678T=CA2215884667ATP2A1c.1862T= (p.Val621=)
c.1487T= (p.Val496=)
16g.28900679G>ACA494874341ATP2A1c.1863G>A (p.Val621=)
c.1488G>A (p.Val496=)
16g.28900679G>CCA494874342ATP2A1c.1863G>C (p.Val621=)
c.1488G>C (p.Val496=)
dbSNP
16g.28900679G=CA2215884671ATP2A1c.1863G= (p.Val621=)
c.1488G= (p.Val496=)
16g.28900679G>TCA494874343ATP2A1c.1863G>T (p.Val621=)
c.1488G>T (p.Val496=)
16g.28900680A>CCA395411109ATP2A1c.1864A>C (p.Ile622Leu)
c.1489A>C (p.Ile497Leu)
16g.28900680A>GCA395411110ATP2A1c.1864A>G (p.Ile622Val)
c.1489A>G (p.Ile497Val)
gnomAD v4
16g.28900680A>TCA395411111ATP2A1c.1864A>T (p.Ile622Phe)
c.1489A>T (p.Ile497Phe)
gnomAD v4
16g.28900681T>ACA395411114ATP2A1c.1865T>A (p.Ile622Asn)
c.1490T>A (p.Ile497Asn)
16g.28900681T>CCA395411112ATP2A1c.1865T>C (p.Ile622Thr)
c.1490T>C (p.Ile497Thr)
16g.28900681T>GCA395411113ATP2A1c.1865T>G (p.Ile622Ser)
c.1490T>G (p.Ile497Ser)
16g.28900682C>ACA494874344ATP2A1c.1866C>A (p.Ile622=)
c.1491C>A (p.Ile497=)
16g.28900682C=CA2215884673ATP2A1c.1866C= (p.Ile622=)
c.1491C= (p.Ile497=)
16g.28900682C>GCA395411115ATP2A1c.1866C>G (p.Ile622Met)
c.1491C>G (p.Ile497Met)
16g.28900682C>TCA279240193ATP2A1c.1866C>T (p.Ile622=)
c.1491C>T (p.Ile497=)
dbSNP gnomAD v2 gnomAD v4
16g.28900683A>CCA395411116ATP2A1c.1867A>C (p.Met623Leu)
c.1492A>C (p.Met498Leu)
16g.28900683A>GCA395411117ATP2A1c.1867A>G (p.Met623Val)
c.1492A>G (p.Met498Val)
gnomAD v4
16g.28900683A>TCA395411118ATP2A1c.1867A>T (p.Met623Leu)
c.1492A>T (p.Met498Leu)
16g.28900684T>ACA395411121ATP2A1c.1868T>A (p.Met623Lys)
c.1493T>A (p.Met498Lys)
16g.28900684T>CCA395411119ATP2A1c.1868T>C (p.Met623Thr)
c.1493T>C (p.Met498Thr)
16g.28900684T>GCA395411120ATP2A1c.1868T>G (p.Met623Arg)
c.1493T>G (p.Met498Arg)
16g.28900685G>ACA395411122ATP2A1c.1869G>A (p.Met623Ile)
c.1494G>A (p.Met498Ile)
gnomAD v4
16g.28900685G>CCA395411123ATP2A1c.1869G>C (p.Met623Ile)
c.1494G>C (p.Met498Ile)
16g.28900685G=CA2215884680ATP2A1c.1869G= (p.Met623=)
c.1494G= (p.Met498=)
16g.28900685G>TCA7987106ATP2A1c.1869G>T (p.Met623Ile)
c.1494G>T (p.Met498Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900686A>CCA395411124ATP2A1c.1870A>C (p.Ile624Leu)
c.1495A>C (p.Ile499Leu)
16g.28900686A>GCA395411125ATP2A1c.1870A>G (p.Ile624Val)
c.1495A>G (p.Ile499Val)
16g.28900686A>TCA395411126ATP2A1c.1870A>T (p.Ile624Phe)
c.1495A>T (p.Ile499Phe)
16g.28900687T>ACA395411127ATP2A1c.1871T>A (p.Ile624Asn)
c.1496T>A (p.Ile499Asn)
16g.28900687T>CCA395411128ATP2A1c.1871T>C (p.Ile624Thr)
c.1496T>C (p.Ile499Thr)
16g.28900687T>GCA395411129ATP2A1c.1871T>G (p.Ile624Ser)
c.1496T>G (p.Ile499Ser)
16g.28900688C>ACA494874345ATP2A1c.1872C>A (p.Ile624=)
c.1497C>A (p.Ile499=)
16g.28900688C>GCA395411130ATP2A1c.1872C>G (p.Ile624Met)
c.1497C>G (p.Ile499Met)
16g.28900688C>TCA494874346ATP2A1c.1872C>T (p.Ile624=)
c.1497C>T (p.Ile499=)
16g.28900689A=CA2215884685ATP2A1c.1873A= (p.Thr625=)
c.1498A= (p.Thr500=)
16g.28900689A>CCA395411131ATP2A1c.1873A>C (p.Thr625Pro)
c.1498A>C (p.Thr500Pro)
16g.28900689A>GCA395411132ATP2A1c.1873A>G (p.Thr625Ala)
c.1498A>G (p.Thr500Ala)
dbSNP gnomAD v2 gnomAD v4
16g.28900689A>TCA395411133ATP2A1c.1873A>T (p.Thr625Ser)
c.1498A>T (p.Thr500Ser)
16g.28900690C>ACA395411134ATP2A1c.1874C>A (p.Thr625Asn)
c.1499C>A (p.Thr500Asn)
16g.28900690C>GCA395411136ATP2A1c.1874C>G (p.Thr625Ser)
c.1499C>G (p.Thr500Ser)
16g.28900690C>TCA395411135ATP2A1c.1874C>T (p.Thr625Ile)
c.1499C>T (p.Thr500Ile)
16g.28900691T>ACA494874347ATP2A1c.1875T>A (p.Thr625=)
c.1500T>A (p.Thr500=)
16g.28900691T>CCA494874348ATP2A1c.1875T>C (p.Thr625=)
c.1500T>C (p.Thr500=)
16g.28900691T>GCA494874349ATP2A1c.1875T>G (p.Thr625=)
c.1500T>G (p.Thr500=)
16g.28900692G>ACA395411137ATP2A1c.1876G>A (p.Gly626Arg)
c.1501G>A (p.Gly501Arg)
16g.28900692G>CCA395411138ATP2A1c.1876G>C (p.Gly626Arg)
c.1501G>C (p.Gly501Arg)
16g.28900692G>TCA395411139ATP2A1c.1876G>T (p.Gly626Trp)
c.1501G>T (p.Gly501Trp)
16g.28900693G>ACA395411140ATP2A1c.1877G>A (p.Gly626Glu)
c.1502G>A (p.Gly501Glu)
gnomAD v4
16g.28900693G>CCA395411141ATP2A1c.1877G>C (p.Gly626Ala)
c.1502G>C (p.Gly501Ala)
16g.28900693G>TCA395411142ATP2A1c.1877G>T (p.Gly626Val)
c.1502G>T (p.Gly501Val)
16g.28900694G>ACA494874352ATP2A1c.1878G>A (p.Gly626=)
c.1503G>A (p.Gly501=)
16g.28900694G>CCA494874350ATP2A1c.1878G>C (p.Gly626=)
c.1503G>C (p.Gly501=)
gnomAD v4
16g.28900694G>TCA494874351ATP2A1c.1878G>T (p.Gly626=)
c.1503G>T (p.Gly501=)
16g.28900695G>ACA395411145ATP2A1c.1879G>A (p.Asp627Asn)
c.1504G>A (p.Asp502Asn)
dbSNP gnomAD v2 gnomAD v4
16g.28900695G>CCA395411143ATP2A1c.1879G>C (p.Asp627His)
c.1504G>C (p.Asp502His)
16g.28900695G=CA2215884692ATP2A1c.1879G= (p.Asp627=)
c.1504G= (p.Asp502=)
16g.28900695G>TCA395411144ATP2A1c.1879G>T (p.Asp627Tyr)
c.1504G>T (p.Asp502Tyr)
16g.28900696A>CCA395411146ATP2A1c.1880A>C (p.Asp627Ala)
c.1505A>C (p.Asp502Ala)
16g.28900696A>GCA395411147ATP2A1c.1880A>G (p.Asp627Gly)
c.1505A>G (p.Asp502Gly)
16g.28900696A>TCA395411148ATP2A1c.1880A>T (p.Asp627Val)
c.1505A>T (p.Asp502Val)
16g.28900700_28900702delCA2575960521ATP2A1c.1884_1886del (p.Asn628del)
c.1509_1511del (p.Asn503del)
gnomAD v4
16g.28900697C>ACA395411149ATP2A1c.1881C>A (p.Asp627Glu)
c.1506C>A (p.Asp502Glu)
16g.28900697C>GCA395411150ATP2A1c.1881C>G (p.Asp627Glu)
c.1506C>G (p.Asp502Glu)
gnomAD v4
16g.28900697C>TCA494874353ATP2A1c.1881C>T (p.Asp627=)
c.1506C>T (p.Asp502=)
16g.28900698A=CA2215884695ATP2A1c.1882A= (p.Asn628=)
c.1507A= (p.Asn503=)
16g.28900698A>CCA395411151ATP2A1c.1882A>C (p.Asn628His)
c.1507A>C (p.Asn503His)
16g.28900698A>GCA395411153ATP2A1c.1882A>G (p.Asn628Asp)
c.1507A>G (p.Asn503Asp)
dbSNP gnomAD v3 gnomAD v4
16g.28900698A>TCA395411152ATP2A1c.1882A>T (p.Asn628Tyr)
c.1507A>T (p.Asn503Tyr)
16g.28900699A=CA2215884702ATP2A1c.1883A= (p.Asn628=)
c.1508A= (p.Asn503=)
16g.28900699A>CCA395411154ATP2A1c.1883A>C (p.Asn628Thr)
c.1508A>C (p.Asn503Thr)
16g.28900699A>GCA7987107ATP2A1c.1883A>G (p.Asn628Ser)
c.1508A>G (p.Asn503Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900699A>TCA395411155ATP2A1c.1883A>T (p.Asn628Ile)
c.1508A>T (p.Asn503Ile)
16g.28900700C>ACA395411156ATP2A1c.1884C>A (p.Asn628Lys)
c.1509C>A (p.Asn503Lys)
16g.28900700C>GCA395411157ATP2A1c.1884C>G (p.Asn628Lys)
c.1509C>G (p.Asn503Lys)
16g.28900700C>TCA494874354ATP2A1c.1884C>T (p.Asn628=)
c.1509C>T (p.Asn503=)
16g.28900700_28900701delinsCACA2215884706ATP2A1c.1884_1885delinsCA (p.Asn628=)
c.1509_1510delinsCA (p.Asn503=)
16g.28900701A>CCA395411158ATP2A1c.1885A>C (p.Lys629Gln)
c.1510A>C (p.Lys504Gln)
16g.28900701A>GCA395411159ATP2A1c.1885A>G (p.Lys629Glu)
c.1510A>G (p.Lys504Glu)
gnomAD v4
16g.28900701A>TCA395411160ATP2A1c.1885A>T (p.Lys629Ter)
c.1510A>T (p.Lys504Ter)
16g.28900702dupCA2632539944ATP2A1c.1886dup (p.Thr631HisfsTer?)
c.1511dup (p.Thr506HisfsTer?)
gnomAD v4
16g.28900702delCA2215884709ATP2A1c.1886del (p.Lys629ArgfsTer?)
c.1511del (p.Lys504ArgfsTer?)
dbSNP
16g.28900702A=CA2215884716ATP2A1c.1886A= (p.Lys629=)
c.1511A= (p.Lys504=)
16g.28900702A>CCA7987108ATP2A1c.1886A>C (p.Lys629Thr)
c.1511A>C (p.Lys504Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900702A>GCA395411161ATP2A1c.1886A>G (p.Lys629Arg)
c.1511A>G (p.Lys504Arg)
gnomAD v4
16g.28900702A>TCA395411162ATP2A1c.1886A>T (p.Lys629Met)
c.1511A>T (p.Lys504Met)
16g.28900703G>ACA494874355ATP2A1c.1887G>A (p.Lys629=)
c.1512G>A (p.Lys504=)
16g.28900703G>CCA395411163ATP2A1c.1887G>C (p.Lys629Asn)
c.1512G>C (p.Lys504Asn)
gnomAD v4
16g.28900703G>TCA395411164ATP2A1c.1887G>T (p.Lys629Asn)
c.1512G>T (p.Lys504Asn)
16g.28900704G>ACA279240229ATP2A1c.1888G>A (p.Gly630Ser)
c.1513G>A (p.Gly505Ser)
dbSNP gnomAD v3 gnomAD v4
16g.28900704G>CCA395411166ATP2A1c.1888G>C (p.Gly630Arg)
c.1513G>C (p.Gly505Arg)
16g.28900704G=CA2215884723ATP2A1c.1888G= (p.Gly630=)
c.1513G= (p.Gly505=)
16g.28900704G>TCA395411165ATP2A1c.1888G>T (p.Gly630Cys)
c.1513G>T (p.Gly505Cys)
16g.28900705G>ACA395411167ATP2A1c.1889G>A (p.Gly630Asp)
c.1514G>A (p.Gly505Asp)
16g.28900705G>CCA395411168ATP2A1c.1889G>C (p.Gly630Ala)
c.1514G>C (p.Gly505Ala)
16g.28900705G>TCA395411169ATP2A1c.1889G>T (p.Gly630Val)
c.1514G>T (p.Gly505Val)
16g.28900706C>ACA494874356ATP2A1c.1890C>A (p.Gly630=)
c.1515C>A (p.Gly505=)
16g.28900706C>GCA494874357ATP2A1c.1890C>G (p.Gly630=)
c.1515C>G (p.Gly505=)
16g.28900706C>TCA494874358ATP2A1c.1890C>T (p.Gly630=)
c.1515C>T (p.Gly505=)
16g.28900707A>CCA395411170ATP2A1c.1891A>C (p.Thr631Pro)
c.1516A>C (p.Thr506Pro)
16g.28900707A>GCA395411171ATP2A1c.1891A>G (p.Thr631Ala)
c.1516A>G (p.Thr506Ala)
16g.28900707A>TCA395411172ATP2A1c.1891A>T (p.Thr631Ser)
c.1516A>T (p.Thr506Ser)
16g.28900708C>ACA395411173ATP2A1c.1892C>A (p.Thr631Lys)
c.1517C>A (p.Thr506Lys)
16g.28900708C=CA2215884727ATP2A1c.1892C= (p.Thr631=)
c.1517C= (p.Thr506=)
16g.28900708C>GCA7987109ATP2A1c.1892C>G (p.Thr631Arg)
c.1517C>G (p.Thr506Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900708C>TCA395411174ATP2A1c.1892C>T (p.Thr631Ile)
c.1517C>T (p.Thr506Ile)
gnomAD v4
16g.28900709A=CA2215884733ATP2A1c.1893A= (p.Thr631=)
c.1518A= (p.Thr506=)
16g.28900709A>CCA494874359ATP2A1c.1893A>C (p.Thr631=)
c.1518A>C (p.Thr506=)
16g.28900709A>GCA494874360ATP2A1c.1893A>G (p.Thr631=)
c.1518A>G (p.Thr506=)
dbSNP
16g.28900709A>TCA494874361ATP2A1c.1893A>T (p.Thr631=)
c.1518A>T (p.Thr506=)
16g.28900710G>ACA395411175ATP2A1c.1894G>A (p.Ala632Thr)
c.1519G>A (p.Ala507Thr)
16g.28900710G>CCA395411176ATP2A1c.1894G>C (p.Ala632Pro)
c.1519G>C (p.Ala507Pro)
gnomAD v4
16g.28900710G>TCA395411177ATP2A1c.1894G>T (p.Ala632Ser)
c.1519G>T (p.Ala507Ser)
16g.28900711C>ACA395411180ATP2A1c.1895C>A (p.Ala632Asp)
c.1520C>A (p.Ala507Asp)
16g.28900711C>GCA395411178ATP2A1c.1895C>G (p.Ala632Gly)
c.1520C>G (p.Ala507Gly)
16g.28900711C>TCA395411179ATP2A1c.1895C>T (p.Ala632Val)
c.1520C>T (p.Ala507Val)
16g.28900712C>ACA494874362ATP2A1c.1896C>A (p.Ala632=)
c.1521C>A (p.Ala507=)
16g.28900712C=CA2215884736ATP2A1c.1896C= (p.Ala632=)
c.1521C= (p.Ala507=)
16g.28900712C>GCA494874363ATP2A1c.1896C>G (p.Ala632=)
c.1521C>G (p.Ala507=)
16g.28900712C>TCA494874364ATP2A1c.1896C>T (p.Ala632=)
c.1521C>T (p.Ala507=)
dbSNP gnomAD v2
16g.28900713A>CCA395411181ATP2A1c.1897A>C (p.Ile633Leu)
c.1522A>C (p.Ile508Leu)
16g.28900713A>GCA395411182ATP2A1c.1897A>G (p.Ile633Val)
c.1522A>G (p.Ile508Val)
16g.28900713A>TCA395411183ATP2A1c.1897A>T (p.Ile633Phe)
c.1522A>T (p.Ile508Phe)
16g.28900714T>ACA395411184ATP2A1c.1898T>A (p.Ile633Asn)
c.1523T>A (p.Ile508Asn)
16g.28900714T>CCA395411185ATP2A1c.1898T>C (p.Ile633Thr)
c.1523T>C (p.Ile508Thr)
16g.28900714T>GCA395411186ATP2A1c.1898T>G (p.Ile633Ser)
c.1523T>G (p.Ile508Ser)
16g.28900715T>ACA494874365ATP2A1c.1899T>A (p.Ile633=)
c.1524T>A (p.Ile508=)
16g.28900715T>CCA279240233ATP2A1c.1899T>C (p.Ile633=)
c.1524T>C (p.Ile508=)
ClinVar dbSNP
16g.28900715T>GCA395411187ATP2A1c.1899T>G (p.Ile633Met)
c.1524T>G (p.Ile508Met)
16g.28900715T=CA2215884746ATP2A1c.1899T= (p.Ile633=)
c.1524T= (p.Ile508=)
16g.28900716G>ACA395411188ATP2A1c.1900G>A (p.Ala634Thr)
c.1525G>A (p.Ala509Thr)
16g.28900716G>CCA395411189ATP2A1c.1900G>C (p.Ala634Pro)
c.1525G>C (p.Ala509Pro)
16g.28900716G>TCA395411190ATP2A1c.1900G>T (p.Ala634Ser)
c.1525G>T (p.Ala509Ser)
16g.28900717C>ACA395411193ATP2A1c.1901C>A (p.Ala634Asp)
c.1526C>A (p.Ala509Asp)
16g.28900717C>GCA395411192ATP2A1c.1901C>G (p.Ala634Gly)
c.1526C>G (p.Ala509Gly)
16g.28900717C>TCA395411191ATP2A1c.1901C>T (p.Ala634Val)
c.1526C>T (p.Ala509Val)
gnomAD v4
16g.28900718C>ACA494874366ATP2A1c.1902C>A (p.Ala634=)
c.1527C>A (p.Ala509=)
16g.28900718C>GCA494874367ATP2A1c.1902C>G (p.Ala634=)
c.1527C>G (p.Ala509=)
16g.28900718C>TCA494874368ATP2A1c.1902C>T (p.Ala634=)
c.1527C>T (p.Ala509=)
16g.28900719A>CCA395411196ATP2A1c.1903A>C (p.Ile635Leu)
c.1528A>C (p.Ile510Leu)
16g.28900719A>GCA395411194ATP2A1c.1903A>G (p.Ile635Val)
c.1528A>G (p.Ile510Val)
16g.28900719A>TCA395411195ATP2A1c.1903A>T (p.Ile635Phe)
c.1528A>T (p.Ile510Phe)
16g.28900720T>ACA395411197ATP2A1c.1904T>A (p.Ile635Asn)
c.1529T>A (p.Ile510Asn)
16g.28900720T>CCA395411198ATP2A1c.1904T>C (p.Ile635Thr)
c.1529T>C (p.Ile510Thr)
16g.28900720T>GCA395411199ATP2A1c.1904T>G (p.Ile635Ser)
c.1529T>G (p.Ile510Ser)
16g.28900721C>ACA494874369ATP2A1c.1905C>A (p.Ile635=)
c.1530C>A (p.Ile510=)
16g.28900721C=CA2215884750ATP2A1c.1905C= (p.Ile635=)
c.1530C= (p.Ile510=)
16g.28900721C>GCA395411200ATP2A1c.1905C>G (p.Ile635Met)
c.1530C>G (p.Ile510Met)
16g.28900721C>TCA7987110ATP2A1c.1905C>T (p.Ile635=)
c.1530C>T (p.Ile510=)
dbSNP ExAC gnomAD v2
16g.28900722T>ACA395411201ATP2A1c.1906T>A (p.Cys636Ser)
c.1531T>A (p.Cys511Ser)
16g.28900722T>CCA395411202ATP2A1c.1906T>C (p.Cys636Arg)
c.1531T>C (p.Cys511Arg)
16g.28900722T>GCA395411203ATP2A1c.1906T>G (p.Cys636Gly)
c.1531T>G (p.Cys511Gly)
16g.28900723G>ACA395411204ATP2A1c.1907G>A (p.Cys636Tyr)
c.1532G>A (p.Cys511Tyr)
16g.28900723G>CCA395411205ATP2A1c.1907G>C (p.Cys636Ser)
c.1532G>C (p.Cys511Ser)
16g.28900723G>TCA395411206ATP2A1c.1907G>T (p.Cys636Phe)
c.1532G>T (p.Cys511Phe)
16g.28900724C>ACA395411208ATP2A1c.1908C>A (p.Cys636Ter)
c.1533C>A (p.Cys511Ter)
16g.28900724C=CA2215884754ATP2A1c.1908C= (p.Cys636=)
c.1533C= (p.Cys511=)
16g.28900724C>GCA395411207ATP2A1c.1908C>G (p.Cys636Trp)
c.1533C>G (p.Cys511Trp)
16g.28900724C>TCA494874370ATP2A1c.1908C>T (p.Cys636=)
c.1533C>T (p.Cys511=)
dbSNP gnomAD v2 gnomAD v4
16g.28900725C>ACA494874371ATP2A1c.1909C>A (p.Arg637=)
c.1534C>A (p.Arg512=)
16g.28900725C=CA2215884766ATP2A1c.1909C= (p.Arg637=)
c.1534C= (p.Arg512=)
16g.28900725C>GCA395411209ATP2A1c.1909C>G (p.Arg637Gly)
c.1534C>G (p.Arg512Gly)
16g.28900725C>TCA7987111ATP2A1c.1909C>T (p.Arg637Trp)
c.1534C>T (p.Arg512Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900726G>ACA7987112ATP2A1c.1910G>A (p.Arg637Gln)
c.1535G>A (p.Arg512Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900726G>CCA395411210ATP2A1c.1910G>C (p.Arg637Pro)
c.1535G>C (p.Arg512Pro)
16g.28900726G=CA2215884780ATP2A1c.1910G= (p.Arg637=)
c.1535G= (p.Arg512=)
16g.28900726G>TCA395411211ATP2A1c.1910G>T (p.Arg637Leu)
c.1535G>T (p.Arg512Leu)
16g.28900727G>ACA7987113ATP2A1c.1911G>A (p.Arg637=)
c.1536G>A (p.Arg512=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900727G>CCA494874373ATP2A1c.1911G>C (p.Arg637=)
c.1536G>C (p.Arg512=)
16g.28900727G=CA2215884788ATP2A1c.1911G= (p.Arg637=)
c.1536G= (p.Arg512=)
16g.28900727G>TCA494874372ATP2A1c.1911G>T (p.Arg637=)
c.1536G>T (p.Arg512=)
16g.28900728C>ACA494874374ATP2A1c.1912C>A (p.Arg638=)
c.1537C>A (p.Arg513=)
16g.28900728C=CA2215884796ATP2A1c.1912C= (p.Arg638=)
c.1537C= (p.Arg513=)
16g.28900728C>GCA395411212ATP2A1c.1912C>G (p.Arg638Gly)
c.1537C>G (p.Arg513Gly)
16g.28900728C>TCA7987114ATP2A1c.1912C>T (p.Arg638Ter)
c.1537C>T (p.Arg513Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.28900729G>ACA7987115ATP2A1c.1913G>A (p.Arg638Gln)
c.1538G>A (p.Arg513Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.28900729G>CCA395411213ATP2A1c.1913G>C (p.Arg638Pro)
c.1538G>C (p.Arg513Pro)
16g.28900729G=CA2215884801ATP2A1c.1913G= (p.Arg638=)
c.1538G= (p.Arg513=)
16g.28900729G>TCA395411214ATP2A1c.1913G>T (p.Arg638Leu)
c.1538G>T (p.Arg513Leu)
16g.28900730A=CA2215884808ATP2A1c.1914A= (p.Arg638=)
c.1539A= (p.Arg513=)
16g.28900730A>CCA494874375ATP2A1c.1914A>C (p.Arg638=)
c.1539A>C (p.Arg513=)
dbSNP
16g.28900730A>GCA494874376ATP2A1c.1914A>G (p.Arg638=)
c.1539A>G (p.Arg513=)
ClinVar gnomAD v4
16g.28900730A>TCA494874377ATP2A1c.1914A>T (p.Arg638=)
c.1539A>T (p.Arg513=)
16g.28900731A>CCA395411215ATP2A1c.1915A>C (p.Ile639Leu)
c.1540A>C (p.Ile514Leu)
16g.28900731A>GCA395411216ATP2A1c.1915A>G (p.Ile639Val)
c.1540A>G (p.Ile514Val)
16g.28900731A>TCA395411217ATP2A1c.1915A>T (p.Ile639Phe)
c.1540A>T (p.Ile514Phe)
16g.28900732T>ACA7987117ATP2A1c.1916T>A (p.Ile639Asn)
c.1541T>A (p.Ile514Asn)
dbSNP ExAC gnomAD v2
16g.28900732T>CCA7987116ATP2A1c.1916T>C (p.Ile639Thr)
c.1541T>C (p.Ile514Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900732T>GCA395411218ATP2A1c.1916T>G (p.Ile639Ser)
c.1541T>G (p.Ile514Ser)
16g.28900732T=CA2215884815ATP2A1c.1916T= (p.Ile639=)
c.1541T= (p.Ile514=)
16g.28900733T>ACA494874378ATP2A1c.1917T>A (p.Ile639=)
c.1542T>A (p.Ile514=)
16g.28900733T>CCA494874379ATP2A1c.1917T>C (p.Ile639=)
c.1542T>C (p.Ile514=)
dbSNP
16g.28900733T>GCA7987118ATP2A1c.1917T>G (p.Ile639Met)
c.1542T>G (p.Ile514Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900733T=CA2215884821ATP2A1c.1917T= (p.Ile639=)
c.1542T= (p.Ile514=)
16g.28900734G>ACA395411219ATP2A1c.1918G>A (p.Gly640Ser)
c.1543G>A (p.Gly515Ser)
gnomAD v4
16g.28900734G>CCA395411220ATP2A1c.1918G>C (p.Gly640Arg)
c.1543G>C (p.Gly515Arg)
16g.28900734G>TCA395411221ATP2A1c.1918G>T (p.Gly640Cys)
c.1543G>T (p.Gly515Cys)
16g.28900735G>ACA395411222ATP2A1c.1919G>A (p.Gly640Asp)
c.1544G>A (p.Gly515Asp)
gnomAD v4
16g.28900735G>CCA395411223ATP2A1c.1919G>C (p.Gly640Ala)
c.1544G>C (p.Gly515Ala)
16g.28900735G>TCA395411224ATP2A1c.1919G>T (p.Gly640Val)
c.1544G>T (p.Gly515Val)
16g.28900736C>ACA494874380ATP2A1c.1920C>A (p.Gly640=)
c.1545C>A (p.Gly515=)
16g.28900736C>GCA494874381ATP2A1c.1920C>G (p.Gly640=)
c.1545C>G (p.Gly515=)
16g.28900736C>TCA494874382ATP2A1c.1920C>T (p.Gly640=)
c.1545C>T (p.Gly515=)
16g.28900737A=CA2215884835ATP2A1c.1921A= (p.Ile641=)
c.1546A= (p.Ile516=)
16g.28900737A>CCA395411227ATP2A1c.1921A>C (p.Ile641Leu)
c.1546A>C (p.Ile516Leu)
16g.28900737A>GCA395411225ATP2A1c.1921A>G (p.Ile641Val)
c.1546A>G (p.Ile516Val)
dbSNP
16g.28900737A>TCA395411226ATP2A1c.1921A>T (p.Ile641Phe)
c.1546A>T (p.Ile516Phe)
16g.28900738T>ACA395411228ATP2A1c.1922T>A (p.Ile641Asn)
c.1547T>A (p.Ile516Asn)
16g.28900738T>CCA395411229ATP2A1c.1922T>C (p.Ile641Thr)
c.1547T>C (p.Ile516Thr)
16g.28900738T>GCA395411230ATP2A1c.1922T>G (p.Ile641Ser)
c.1547T>G (p.Ile516Ser)
16g.28900739C>ACA494874383ATP2A1c.1923C>A (p.Ile641=)
c.1548C>A (p.Ile516=)
dbSNP gnomAD v2 gnomAD v4
16g.28900739C=CA2215884842ATP2A1c.1923C= (p.Ile641=)
c.1548C= (p.Ile516=)
16g.28900739C>GCA395411231ATP2A1c.1923C>G (p.Ile641Met)
c.1548C>G (p.Ile516Met)
16g.28900739C>TCA7987119ATP2A1c.1923C>T (p.Ile641=)
c.1548C>T (p.Ile516=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900740T>ACA395411232ATP2A1c.1924T>A (p.Phe642Ile)
c.1549T>A (p.Phe517Ile)
16g.28900740T>CCA395411234ATP2A1c.1924T>C (p.Phe642Leu)
c.1549T>C (p.Phe517Leu)
16g.28900740T>GCA395411233ATP2A1c.1924T>G (p.Phe642Val)
c.1549T>G (p.Phe517Val)
16g.28900741T>ACA395411235ATP2A1c.1925T>A (p.Phe642Tyr)
c.1550T>A (p.Phe517Tyr)
16g.28900741T>CCA395411236ATP2A1c.1925T>C (p.Phe642Ser)
c.1550T>C (p.Phe517Ser)
dbSNP
16g.28900741T>GCA395411237ATP2A1c.1925T>G (p.Phe642Cys)
c.1550T>G (p.Phe517Cys)
16g.28900741T=CA2215884848ATP2A1c.1925T= (p.Phe642=)
c.1550T= (p.Phe517=)
16g.28900742T>ACA395411238ATP2A1c.1926T>A (p.Phe642Leu)
c.1551T>A (p.Phe517Leu)
16g.28900742T>CCA494874384ATP2A1c.1926T>C (p.Phe642=)
c.1551T>C (p.Phe517=)
dbSNP
16g.28900742T>GCA395411239ATP2A1c.1926T>G (p.Phe642Leu)
c.1551T>G (p.Phe517Leu)
16g.28900742T=CA2215884855ATP2A1c.1926T= (p.Phe642=)
c.1551T= (p.Phe517=)
16g.28900743G>ACA395411240ATP2A1c.1927G>A (p.Gly643Arg)
c.1552G>A (p.Gly518Arg)
16g.28900743G>CCA395411241ATP2A1c.1927G>C (p.Gly643Arg)
c.1552G>C (p.Gly518Arg)
16g.28900743G>TCA395411242ATP2A1c.1927G>T (p.Gly643Trp)
c.1552G>T (p.Gly518Trp)
16g.28900746delCA2632539945ATP2A1c.1930del (p.Glu644ArgfsTer?)
c.1555del (p.Glu519ArgfsTer?)
gnomAD v4
16g.28900744G>ACA395411243ATP2A1c.1928G>A (p.Gly643Glu)
c.1553G>A (p.Gly518Glu)
gnomAD v4
16g.28900744G>CCA279240302ATP2A1c.1928G>C (p.Gly643Ala)
c.1553G>C (p.Gly518Ala)
dbSNP
16g.28900744G=CA2215884858ATP2A1c.1928G= (p.Gly643=)
c.1553G= (p.Gly518=)
16g.28900744G>TCA395411244ATP2A1c.1928G>T (p.Gly643Val)
c.1553G>T (p.Gly518Val)

Number of alleles fetched