Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.28900855A>C | CA395411463 | ATP2A1 | c.2039A>C (p.Glu680Ala) c.1664A>C (p.Glu555Ala) | |
16 | g.28900855A>G | CA395411464 | ATP2A1 | c.2039A>G (p.Glu680Gly) c.1664A>G (p.Glu555Gly) | |
16 | g.28900855A>T | CA395411465 | ATP2A1 | c.2039A>T (p.Glu680Val) c.1664A>T (p.Glu555Val) | COSMIC |
16 | g.28900856G>A | CA494874457 | ATP2A1 | c.2040G>A (p.Glu680=) c.1665G>A (p.Glu555=) | |
16 | g.28900856G>C | CA395411466 | ATP2A1 | c.2040G>C (p.Glu680Asp) c.1665G>C (p.Glu555Asp) | |
16 | g.28900856G= | CA2215885331 | ATP2A1 | c.2040G= (p.Glu680=) c.1665G= (p.Glu555=) | |
16 | g.28900856G>T | CA7987154 | ATP2A1 | c.2040G>T (p.Glu680Asp) c.1665G>T (p.Glu555Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900857C>A | CA395411467 | ATP2A1 | c.2041C>A (p.Pro681Thr) c.1666C>A (p.Pro556Thr) | |
16 | g.28900857C>G | CA395411468 | ATP2A1 | c.2041C>G (p.Pro681Ala) c.1666C>G (p.Pro556Ala) | gnomAD v4 |
16 | g.28900857C>T | CA395411469 | ATP2A1 | c.2041C>T (p.Pro681Ser) c.1666C>T (p.Pro556Ser) | |
16 | g.28900858C>A | CA395411470 | ATP2A1 | c.2042C>A (p.Pro681His) c.1667C>A (p.Pro556His) | |
16 | g.28900858C>G | CA395411471 | ATP2A1 | c.2042C>G (p.Pro681Arg) c.1667C>G (p.Pro556Arg) | |
16 | g.28900858C>T | CA395411472 | ATP2A1 | c.2042C>T (p.Pro681Leu) c.1667C>T (p.Pro556Leu) | |
16 | g.28900859C>A | CA494874458 | ATP2A1 | c.2043C>A (p.Pro681=) c.1668C>A (p.Pro556=) | |
16 | g.28900859C= | CA2215885334 | ATP2A1 | c.2043C= (p.Pro681=) c.1668C= (p.Pro556=) | |
16 | g.28900859C>G | CA494874459 | ATP2A1 | c.2043C>G (p.Pro681=) c.1668C>G (p.Pro556=) | dbSNP |
16 | g.28900859C>T | CA494874460 | ATP2A1 | c.2043C>T (p.Pro681=) c.1668C>T (p.Pro556=) | |
16 | g.28900860T>A | CA395411473 | ATP2A1 | c.2044T>A (p.Ser682Thr) c.1669T>A (p.Ser557Thr) | |
16 | g.28900860T>C | CA395411474 | ATP2A1 | c.2044T>C (p.Ser682Pro) c.1669T>C (p.Ser557Pro) | |
16 | g.28900860T>G | CA395411475 | ATP2A1 | c.2044T>G (p.Ser682Ala) c.1669T>G (p.Ser557Ala) | |
16 | g.28900861C>A | CA395411476 | ATP2A1 | c.2045C>A (p.Ser682Ter) c.1670C>A (p.Ser557Ter) | |
16 | g.28900861C= | CA2215885340 | ATP2A1 | c.2045C= (p.Ser682=) c.1670C= (p.Ser557=) | |
16 | g.28900861C>G | CA395411477 | ATP2A1 | c.2045C>G (p.Ser682Trp) c.1670C>G (p.Ser557Trp) | |
16 | g.28900861C>T | CA7987155 | ATP2A1 | c.2045C>T (p.Ser682Leu) c.1670C>T (p.Ser557Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900862G>A | CA7987156 | ATP2A1 | c.2046G>A (p.Ser682=) c.1671G>A (p.Ser557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |