| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28900841C>A | CA127436 | ATP2A1 | c.2025C>A (p.Cys675Ter) c.1650C>A (p.Cys550Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28900841C= | CA2215885280 | ATP2A1 | c.2025C= (p.Cys675=) c.1650C= (p.Cys550=) | |
| 16 | g.28900841C>G | CA395411436 | ATP2A1 | c.2025C>G (p.Cys675Trp) c.1650C>G (p.Cys550Trp) | |
| 16 | g.28900841C>T | CA494874447 | ATP2A1 | c.2025C>T (p.Cys675=) c.1650C>T (p.Cys550=) | |
| 16 | g.28900842T>A | CA395411439 | ATP2A1 | c.2026T>A (p.Phe676Ile) c.1651T>A (p.Phe551Ile) | |
| 16 | g.28900842T>C | CA395411437 | ATP2A1 | c.2026T>C (p.Phe676Leu) c.1651T>C (p.Phe551Leu) | |
| 16 | g.28900842T>G | CA395411438 | ATP2A1 | c.2026T>G (p.Phe676Val) c.1651T>G (p.Phe551Val) | |
| 16 | g.28900843T>A | CA395411440 | ATP2A1 | c.2027T>A (p.Phe676Tyr) c.1652T>A (p.Phe551Tyr) | |
| 16 | g.28900843T>C | CA395411442 | ATP2A1 | c.2027T>C (p.Phe676Ser) c.1652T>C (p.Phe551Ser) | |
| 16 | g.28900843T>G | CA395411441 | ATP2A1 | c.2027T>G (p.Phe676Cys) c.1652T>G (p.Phe551Cys) | |
| 16 | g.28900844C>A | CA395411443 | ATP2A1 | c.2028C>A (p.Phe676Leu) c.1653C>A (p.Phe551Leu) | |
| 16 | g.28900844C= | CA2215885298 | ATP2A1 | c.2028C= (p.Phe676=) c.1653C= (p.Phe551=) | |
| 16 | g.28900844C>G | CA395411444 | ATP2A1 | c.2028C>G (p.Phe676Leu) c.1653C>G (p.Phe551Leu) | |
| 16 | g.28900844C>T | CA7987150 | ATP2A1 | c.2028C>T (p.Phe676=) c.1653C>T (p.Phe551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28900845del | CA2632540073 | ATP2A1 | c.2029del (p.Ala677ProfsTer24) c.1654del (p.Ala552ProfsTer24) | gnomAD v4 |
| 16 | g.28900845G>A | CA7987151 | ATP2A1 | c.2029G>A (p.Ala677Thr) c.1654G>A (p.Ala552Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28900845G>C | CA395411445 | ATP2A1 | c.2029G>C (p.Ala677Pro) c.1654G>C (p.Ala552Pro) | |
| 16 | g.28900845G= | CA2215885302 | ATP2A1 | c.2029G= (p.Ala677=) c.1654G= (p.Ala552=) | |
| 16 | g.28900845G>T | CA395411446 | ATP2A1 | c.2029G>T (p.Ala677Ser) c.1654G>T (p.Ala552Ser) | ClinVar dbSNP |
| 16 | g.28900846C>A | CA395411447 | ATP2A1 | c.2030C>A (p.Ala677Asp) c.1655C>A (p.Ala552Asp) | |
| 16 | g.28900846C>G | CA395411448 | ATP2A1 | c.2030C>G (p.Ala677Gly) c.1655C>G (p.Ala552Gly) | |
| 16 | g.28900846C>T | CA395411449 | ATP2A1 | c.2030C>T (p.Ala677Val) c.1655C>T (p.Ala552Val) | gnomAD v4 |
| 16 | g.28900847C>A | CA494874450 | ATP2A1 | c.2031C>A (p.Ala677=) c.1656C>A (p.Ala552=) | |
| 16 | g.28900847C>G | CA494874449 | ATP2A1 | c.2031C>G (p.Ala677=) c.1656C>G (p.Ala552=) | |
| 16 | g.28900847C>T | CA494874448 | ATP2A1 | c.2031C>T (p.Ala677=) c.1656C>T (p.Ala552=) | gnomAD v4 |
| 16 | g.28900848C>A | CA395411450 | ATP2A1 | c.2032C>A (p.Arg678Ser) c.1657C>A (p.Arg553Ser) | |
| 16 | g.28900848C= | CA2215885311 | ATP2A1 | c.2032C= (p.Arg678=) c.1657C= (p.Arg553=) | |
| 16 | g.28900848C>G | CA395411451 | ATP2A1 | c.2032C>G (p.Arg678Gly) c.1657C>G (p.Arg553Gly) | |
| 16 | g.28900848C>T | CA395411452 | ATP2A1 | c.2032C>T (p.Arg678Cys) c.1657C>T (p.Arg553Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28900849G>A | CA7987152 | ATP2A1 | c.2033G>A (p.Arg678His) c.1658G>A (p.Arg553His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28900849G>C | CA395411453 | ATP2A1 | c.2033G>C (p.Arg678Pro) c.1658G>C (p.Arg553Pro) | |
| 16 | g.28900849G= | CA2215885315 | ATP2A1 | c.2033G= (p.Arg678=) c.1658G= (p.Arg553=) | |
| 16 | g.28900849G>T | CA395411454 | ATP2A1 | c.2033G>T (p.Arg678Leu) c.1658G>T (p.Arg553Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28900850T>A | CA494874453 | ATP2A1 | c.2034T>A (p.Arg678=) c.1659T>A (p.Arg553=) | |
| 16 | g.28900850T>C | CA494874452 | ATP2A1 | c.2034T>C (p.Arg678=) c.1659T>C (p.Arg553=) | dbSNP gnomAD v4 |
| 16 | g.28900850T>G | CA494874451 | ATP2A1 | c.2034T>G (p.Arg678=) c.1659T>G (p.Arg553=) | |
| 16 | g.28900850T= | CA2215885321 | ATP2A1 | c.2034T= (p.Arg678=) c.1659T= (p.Arg553=) | |
| 16 | g.28900851G>A | CA395411455 | ATP2A1 | c.2035G>A (p.Val679Met) c.1660G>A (p.Val554Met) | gnomAD v4 |
| 16 | g.28900851G>C | CA395411456 | ATP2A1 | c.2035G>C (p.Val679Leu) c.1660G>C (p.Val554Leu) | |
| 16 | g.28900851G>T | CA395411457 | ATP2A1 | c.2035G>T (p.Val679Leu) c.1660G>T (p.Val554Leu) | |
| 16 | g.28900852T>A | CA395411458 | ATP2A1 | c.2036T>A (p.Val679Glu) c.1661T>A (p.Val554Glu) | |
| 16 | g.28900852T>C | CA7987153 | ATP2A1 | c.2036T>C (p.Val679Ala) c.1661T>C (p.Val554Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28900852T>G | CA395411459 | ATP2A1 | c.2036T>G (p.Val679Gly) c.1661T>G (p.Val554Gly) | |
| 16 | g.28900852T= | CA2215885325 | ATP2A1 | c.2036T= (p.Val679=) c.1661T= (p.Val554=) | |
| 16 | g.28900853G>A | CA494874454 | ATP2A1 | c.2037G>A (p.Val679=) c.1662G>A (p.Val554=) | COSMIC COSMIC |
| 16 | g.28900853G>C | CA494874456 | ATP2A1 | c.2037G>C (p.Val679=) c.1662G>C (p.Val554=) | |
| 16 | g.28900853G>T | CA494874455 | ATP2A1 | c.2037G>T (p.Val679=) c.1662G>T (p.Val554=) | |
| 16 | g.28900854G>A | CA395411460 | ATP2A1 | c.2038G>A (p.Glu680Lys) c.1663G>A (p.Glu555Lys) | |
| 16 | g.28900854G>C | CA395411461 | ATP2A1 | c.2038G>C (p.Glu680Gln) c.1663G>C (p.Glu555Gln) | |
| 16 | g.28900854G>T | CA395411462 | ATP2A1 | c.2038G>T (p.Glu680Ter) c.1663G>T (p.Glu555Ter) |