Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900646C>A | CA494874320 | ATP2A1 | c.1830C>A (p.Ser610=) c.1455C>A (p.Ser485=) | gnomAD v4 |
16 | g.28900646C= | CA2215884562 | ATP2A1 | c.1830C= (p.Ser610=) c.1455C= (p.Ser485=) | |
16 | g.28900646C>G | CA494874321 | ATP2A1 | c.1830C>G (p.Ser610=) c.1455C>G (p.Ser485=) | |
16 | g.28900646C>T | CA279240150 | ATP2A1 | c.1830C>T (p.Ser610=) c.1455C>T (p.Ser485=) | dbSNP |
16 | g.28900647A>C | CA395411042 | ATP2A1 | c.1831A>C (p.Ile611Leu) c.1456A>C (p.Ile486Leu) | |
16 | g.28900647A>G | CA395411043 | ATP2A1 | c.1831A>G (p.Ile611Val) c.1456A>G (p.Ile486Val) | |
16 | g.28900647A>T | CA395411044 | ATP2A1 | c.1831A>T (p.Ile611Phe) c.1456A>T (p.Ile486Phe) | |
16 | g.28900648T>A | CA395411045 | ATP2A1 | c.1832T>A (p.Ile611Asn) c.1457T>A (p.Ile486Asn) | |
16 | g.28900648T>C | CA395411046 | ATP2A1 | c.1832T>C (p.Ile611Thr) c.1457T>C (p.Ile486Thr) | |
16 | g.28900648T>G | CA395411047 | ATP2A1 | c.1832T>G (p.Ile611Ser) c.1457T>G (p.Ile486Ser) | |
16 | g.28900649C>A | CA494874322 | ATP2A1 | c.1833C>A (p.Ile611=) c.1458C>A (p.Ile486=) | |
16 | g.28900649C>G | CA395411048 | ATP2A1 | c.1833C>G (p.Ile611Met) c.1458C>G (p.Ile486Met) | COSMIC |
16 | g.28900649C>T | CA494874323 | ATP2A1 | c.1833C>T (p.Ile611=) c.1458C>T (p.Ile486=) | |
16 | g.28900650C>A | CA395411051 | ATP2A1 | c.1834C>A (p.Gln612Lys) c.1459C>A (p.Gln487Lys) | |
16 | g.28900650C>G | CA395411050 | ATP2A1 | c.1834C>G (p.Gln612Glu) c.1459C>G (p.Gln487Glu) | |
16 | g.28900650C>T | CA395411049 | ATP2A1 | c.1834C>T (p.Gln612Ter) c.1459C>T (p.Gln487Ter) | gnomAD v4 |
16 | g.28900651_28900658dup | CA2632539929 | ATP2A1 | c.1835_1842dup (p.Arg615SerfsTer10) c.1460_1467dup (p.Arg490SerfsTer10) | gnomAD v4 |
16 | g.28900651A>C | CA395411052 | ATP2A1 | c.1835A>C (p.Gln612Pro) c.1460A>C (p.Gln487Pro) | |
16 | g.28900651A>G | CA395411054 | ATP2A1 | c.1835A>G (p.Gln612Arg) c.1460A>G (p.Gln487Arg) | |
16 | g.28900651A>T | CA395411053 | ATP2A1 | c.1835A>T (p.Gln612Leu) c.1460A>T (p.Gln487Leu) | |
16 | g.28900652G>A | CA494874324 | ATP2A1 | c.1836G>A (p.Gln612=) c.1461G>A (p.Gln487=) | dbSNP |
16 | g.28900652G>C | CA395411055 | ATP2A1 | c.1836G>C (p.Gln612His) c.1461G>C (p.Gln487His) | dbSNP gnomAD v4 |
16 | g.28900652G= | CA2215884569 | ATP2A1 | c.1836G= (p.Gln612=) c.1461G= (p.Gln487=) | |
16 | g.28900652G>T | CA395411056 | ATP2A1 | c.1836G>T (p.Gln612His) c.1461G>T (p.Gln487His) | |
16 | g.28900653C>A | CA395411057 | ATP2A1 | c.1837C>A (p.Leu613Met) c.1462C>A (p.Leu488Met) | |
16 | g.28900653C= | CA2215884572 | ATP2A1 | c.1837C= (p.Leu613=) c.1462C= (p.Leu488=) | |
16 | g.28900653C>G | CA395411058 | ATP2A1 | c.1837C>G (p.Leu613Val) c.1462C>G (p.Leu488Val) | |
16 | g.28900653C>T | CA7987096 | ATP2A1 | c.1837C>T (p.Leu613=) c.1462C>T (p.Leu488=) | dbSNP ExAC gnomAD v2 gnomAD v3 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 |