Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900651_28900658dup | CA2632539929 | ATP2A1 | c.1835_1842dup (p.Arg615SerfsTer10) c.1460_1467dup (p.Arg490SerfsTer10) | gnomAD v4 |
16 | g.28900654T>A | CA395411059 | ATP2A1 | c.1838T>A (p.Leu613Gln) c.1463T>A (p.Leu488Gln) | |
16 | g.28900654T>C | CA395411060 | ATP2A1 | c.1838T>C (p.Leu613Pro) c.1463T>C (p.Leu488Pro) | |
16 | g.28900654T>G | CA395411061 | ATP2A1 | c.1838T>G (p.Leu613Arg) c.1463T>G (p.Leu488Arg) | |
16 | g.28900655G>A | CA494874325 | ATP2A1 | c.1839G>A (p.Leu613=) c.1464G>A (p.Leu488=) | dbSNP gnomAD v4 |
16 | g.28900655G>C | CA494874326 | ATP2A1 | c.1839G>C (p.Leu613=) c.1464G>C (p.Leu488=) | |
16 | g.28900655G>T | CA494874327 | ATP2A1 | c.1839G>T (p.Leu613=) c.1464G>T (p.Leu488=) | |
16 | g.28900656T>A | CA395411062 | ATP2A1 | c.1840T>A (p.Cys614Ser) c.1465T>A (p.Cys489Ser) | |
16 | g.28900656T>C | CA395411063 | ATP2A1 | c.1840T>C (p.Cys614Arg) c.1465T>C (p.Cys489Arg) | gnomAD v4 |
16 | g.28900656T>G | CA395411064 | ATP2A1 | c.1840T>G (p.Cys614Gly) c.1465T>G (p.Cys489Gly) | |
16 | g.28900657G>A | CA395411065 | ATP2A1 | c.1841G>A (p.Cys614Tyr) c.1466G>A (p.Cys489Tyr) | |
16 | g.28900657G>C | CA395411066 | ATP2A1 | c.1841G>C (p.Cys614Ser) c.1466G>C (p.Cys489Ser) | |
16 | g.28900657G>T | CA395411067 | ATP2A1 | c.1841G>T (p.Cys614Phe) c.1466G>T (p.Cys489Phe) | |
16 | g.28900658C>A | CA395411069 | ATP2A1 | c.1842C>A (p.Cys614Ter) c.1467C>A (p.Cys489Ter) | |
16 | g.28900658C= | CA2215884579 | ATP2A1 | c.1842C= (p.Cys614=) c.1467C= (p.Cys489=) | |
16 | g.28900658C>G | CA395411068 | ATP2A1 | c.1842C>G (p.Cys614Trp) c.1467C>G (p.Cys489Trp) | |
16 | g.28900658C>T | CA494874328 | ATP2A1 | c.1842C>T (p.Cys614=) c.1467C>T (p.Cys489=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900659C>A | CA395411070 | ATP2A1 | c.1843C>A (p.Arg615Ser) c.1468C>A (p.Arg490Ser) | |
16 | g.28900659C= | CA2215884587 | ATP2A1 | c.1843C= (p.Arg615=) c.1468C= (p.Arg490=) | |
16 | g.28900659C>G | CA395411071 | ATP2A1 | c.1843C>G (p.Arg615Gly) c.1468C>G (p.Arg490Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.28900659C>T | CA7987097 | ATP2A1 | c.1843C>T (p.Arg615Cys) c.1468C>T (p.Arg490Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900660G>A | CA7987098 | ATP2A1 | c.1844G>A (p.Arg615His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900660G>C | CA395411072 | ATP2A1 | c.1844G>C (p.Arg615Pro) c.1469G>C (p.Arg490Pro) | gnomAD v4 |
16 | g.28900660G= | CA2215884594 | ATP2A1 | c.1844G= (p.Arg615=) c.1469G= (p.Arg490=) | |
16 | g.28900660G>T | CA395411073 | ATP2A1 | c.1844G>T (p.Arg615Leu) c.1469G>T (p.Arg490Leu) | |
16 | g.28900661T>A | CA494874329 | ATP2A1 | c.1845T>A (p.Arg615=) c.1470T>A (p.Arg490=) | dbSNP |
16 | g.28900661T>C | CA494874330 | ATP2A1 | c.1845T>C (p.Arg615=) c.1470T>C (p.Arg490=) | |
16 | g.28900661T>G | CA494874331 | ATP2A1 | c.1845T>G (p.Arg615=) c.1470T>G (p.Arg490=) | |
16 | g.28900662G>A | CA395411074 | ATP2A1 | c.1846G>A (p.Asp616Asn) c.1471G>A (p.Asp491Asn) | |
16 | g.28900662G>C | CA395411075 | ATP2A1 | c.1846G>C (p.Asp616His) c.1471G>C (p.Asp491His) | |
16 | g.28900662G>T | CA395411076 | ATP2A1 | c.1846G>T (p.Asp616Tyr) c.1471G>T (p.Asp491Tyr) | |
16 | g.28900663A>C | CA395411077 | ATP2A1 | c.1847A>C (p.Asp616Ala) c.1472A>C (p.Asp491Ala) | |
16 | g.28900663A>G | CA395411078 | ATP2A1 | c.1847A>G (p.Asp616Gly) c.1472A>G (p.Asp491Gly) | gnomAD v4 |
16 | g.28900663A>T | CA395411079 | ATP2A1 | c.1847A>T (p.Asp616Val) c.1472A>T (p.Asp491Val) | COSMIC COSMIC |
16 | g.28900664C>A | CA395411081 | ATP2A1 | c.1848C>A (p.Asp616Glu) c.1473C>A (p.Asp491Glu) | |
16 | g.28900664C= | CA2215884598 | ATP2A1 | c.1848C= (p.Asp616=) c.1473C= (p.Asp491=) | |
16 | g.28900664C>G | CA395411080 | ATP2A1 | c.1848C>G (p.Asp616Glu) c.1473C>G (p.Asp491Glu) | |
16 | g.28900664C>T | CA7987099 | ATP2A1 | c.1848C>T (p.Asp616=) c.1473C>T (p.Asp491=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900665G>A | CA395411082 | ATP2A1 | c.1849G>A (p.Ala617Thr) c.1474G>A (p.Ala492Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900665G>C | CA395411083 | ATP2A1 | c.1849G>C (p.Ala617Pro) c.1474G>C (p.Ala492Pro) | |
16 | g.28900665G= | CA2215884606 | ATP2A1 | c.1849G= (p.Ala617=) c.1474G= (p.Ala492=) | |
16 | g.28900665G>T | CA395411084 | ATP2A1 | c.1849G>T (p.Ala617Ser) c.1474G>T (p.Ala492Ser) | |
16 | g.28900666C>A | CA395411085 | ATP2A1 | c.1850C>A (p.Ala617Asp) c.1475C>A (p.Ala492Asp) | |
16 | g.28900666C>G | CA395411086 | ATP2A1 | c.1850C>G (p.Ala617Gly) c.1475C>G (p.Ala492Gly) | |
16 | g.28900666C>T | CA395411087 | ATP2A1 | c.1850C>T (p.Ala617Val) c.1475C>T (p.Ala492Val) | |
16 | g.28900667C>A | CA7987101 | ATP2A1 | c.1851C>A (p.Ala617=) c.1476C>A (p.Ala492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900667C= | CA2215884617 | ATP2A1 | c.1851C= (p.Ala617=) c.1476C= (p.Ala492=) | |
16 | g.28900667C>G | CA494874332 | ATP2A1 | c.1851C>G (p.Ala617=) c.1476C>G (p.Ala492=) | dbSNP gnomAD v4 |
16 | g.28900667C>T | CA7987100 | ATP2A1 | c.1851C>T (p.Ala617=) c.1476C>T (p.Ala492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900668G>A | CA7987102 | ATP2A1 | c.1852G>A (p.Gly618Arg) c.1477G>A (p.Gly493Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |