Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536253_31536256delinsTCAA | CA2293861937 | DSG2 | c.1475_1478delinsTCAA (p.Ile492=) c.941_944delinsTCAA (p.Ile314=) | |
18 | g.31536255_31536257del | CA2293861938 | DSG2 | c.1477_1479del (p.Asn493del) c.943_945del (p.Asn315del) | ClinVar dbSNP |
18 | g.31536256A= | CA2293861940 | DSG2 | c.1478A= (p.Asn493=) c.944A= (p.Asn315=) | |
18 | g.31536256A>C | CA402141383 | DSG2 | c.1478A>C (p.Asn493Thr) c.944A>C (p.Asn315Thr) | |
18 | g.31536256A>G | CA021402 | DSG2 | c.1478A>G (p.Asn493Ser) c.944A>G (p.Asn315Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536256A>T | CA402141384 | DSG2 | c.1478A>T (p.Asn493Ile) c.944A>T (p.Asn315Ile) | |
18 | g.31536258_31536260del | CA2641406714 | DSG2 | c.1480_1482del (p.Asp494del) c.946_948del (p.Asp316del) | gnomAD v4 |
18 | g.31536257C>A | CA402141385 | DSG2 | c.1479C>A (p.Asn493Lys) c.945C>A (p.Asn315Lys) | |
18 | g.31536257C= | CA2293861941 | DSG2 | c.1479C= (p.Asn493=) c.945C= (p.Asn315=) | |
18 | g.31536257C>G | CA402141387 | DSG2 | c.1479C>G (p.Asn493Lys) c.945C>G (p.Asn315Lys) | |
18 | g.31536257C>T | CA042568 | DSG2 | c.1479C>T (p.Asn493=) c.945C>T (p.Asn315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536258G>A | CA042615 | DSG2 | c.1480G>A (p.Asp494Asn) c.946G>A (p.Asp316Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536258G>C | CA402141391 | DSG2 | c.1480G>C (p.Asp494His) c.946G>C (p.Asp316His) | |
18 | g.31536258G= | CA2293861942 | DSG2 | c.1480G= (p.Asp494=) c.946G= (p.Asp316=) | |
18 | g.31536258G>T | CA402141392 | DSG2 | c.1480G>T (p.Asp494Tyr) c.946G>T (p.Asp316Tyr) | |
18 | g.31536259A= | CA2293861943 | DSG2 | c.1481A= (p.Asp494=) c.947A= (p.Asp316=) | |
18 | g.31536259A>C | CA021409 | DSG2 | c.1481A>C (p.Asp494Ala) c.947A>C (p.Asp316Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536259A>G | CA402141397 | DSG2 | c.1481A>G (p.Asp494Gly) c.947A>G (p.Asp316Gly) | COSMIC |
18 | g.31536259A>T | CA402141398 | DSG2 | c.1481A>T (p.Asp494Val) c.947A>T (p.Asp316Val) | dbSNP |
18 | g.31536260C>A | CA402141399 | DSG2 | c.1482C>A (p.Asp494Glu) c.948C>A (p.Asp316Glu) | |
18 | g.31536260C>G | CA402141401 | DSG2 | c.1482C>G (p.Asp494Glu) c.948C>G (p.Asp316Glu) | ClinVar |
18 | g.31536260C>T | CA503600695 | DSG2 | c.1482C>T (p.Asp494=) c.948C>T (p.Asp316=) | |
18 | g.31536261A>C | CA402141407 | DSG2 | c.1483A>C (p.Asn495His) c.949A>C (p.Asn317His) | |
18 | g.31536261A>G | CA402141404 | DSG2 | c.1483A>G (p.Asn495Asp) c.949A>G (p.Asn317Asp) | |
18 | g.31536261A>T | CA402141405 | DSG2 | c.1483A>T (p.Asn495Tyr) c.949A>T (p.Asn317Tyr) | ClinVar |
18 | g.31536262A= | CA2293861944 | DSG2 | c.1484A= (p.Asn495=) c.950A= (p.Asn317=) | |
18 | g.31536262A>C | CA402141408 | DSG2 | c.1484A>C (p.Asn495Thr) c.950A>C (p.Asn317Thr) | |
18 | g.31536262A>G | CA402141410 | DSG2 | c.1484A>G (p.Asn495Ser) c.950A>G (p.Asn317Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536262A>T | CA402141411 | DSG2 | c.1484A>T (p.Asn495Ile) c.950A>T (p.Asn317Ile) | |
18 | g.31536263C>A | CA402141412 | DSG2 | c.1485C>A (p.Asn495Lys) c.951C>A (p.Asn317Lys) | |
18 | g.31536263C>G | CA402141415 | DSG2 | c.1485C>G (p.Asn495Lys) c.951C>G (p.Asn317Lys) | |
18 | g.31536263C>T | CA503600696 | DSG2 | c.1485C>T (p.Asn495=) c.951C>T (p.Asn317=) | gnomAD v4 |
18 | g.31536264T>A | CA402141418 | DSG2 | c.1486T>A (p.Cys496Ser) c.952T>A (p.Cys318Ser) | |
18 | g.31536264T>C | CA402141420 | DSG2 | c.1486T>C (p.Cys496Arg) c.952T>C (p.Cys318Arg) | |
18 | g.31536264T>G | CA402141422 | DSG2 | c.1486T>G (p.Cys496Gly) c.952T>G (p.Cys318Gly) | |
18 | g.31536264T= | CA2293861945 | DSG2 | c.1486T= (p.Cys496=) c.952T= (p.Cys318=) | |
18 | g.31536265G>A | CA402141425 | DSG2 | c.1487G>A (p.Cys496Tyr) c.953G>A (p.Cys318Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31536265G>C | CA402141427 | DSG2 | c.1487G>C (p.Cys496Ser) c.953G>C (p.Cys318Ser) | |
18 | g.31536265G= | CA2293861946 | DSG2 | c.1487G= (p.Cys496=) c.953G= (p.Cys318=) | |
18 | g.31536265G>T | CA402141430 | DSG2 | c.1487G>T (p.Cys496Phe) c.953G>T (p.Cys318Phe) | |
18 | g.31536265dup | CA021416 | DSG2 | c.1487dup (p.Cys496TrpfsTer?) c.953dup (p.Cys318TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
18 | g.31536266T>A | CA402141432 | DSG2 | c.1488T>A (p.Cys496Ter) c.954T>A (p.Cys318Ter) | |
18 | g.31536266T>C | CA503600697 | DSG2 | c.1488T>C (p.Cys496=) c.954T>C (p.Cys318=) | |
18 | g.31536266T>G | CA402141438 | DSG2 | c.1488T>G (p.Cys496Trp) c.954T>G (p.Cys318Trp) | |
18 | g.31536267C>A | CA402141441 | DSG2 | c.1489C>A (p.Pro497Thr) c.955C>A (p.Pro319Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31536267C= | CA2293861947 | DSG2 | c.1489C= (p.Pro497=) c.955C= (p.Pro319=) | |
18 | g.31536267C>G | CA402141444 | DSG2 | c.1489C>G (p.Pro497Ala) c.955C>G (p.Pro319Ala) | ClinVar gnomAD v4 |
18 | g.31536267C>T | CA402141443 | DSG2 | c.1489C>T (p.Pro497Ser) c.955C>T (p.Pro319Ser) | COSMIC |
18 | g.31536268C>A | CA402141447 | DSG2 | c.1490C>A (p.Pro497His) c.956C>A (p.Pro319His) | |
18 | g.31536268C>G | CA402141448 | DSG2 | c.1490C>G (p.Pro497Arg) c.956C>G (p.Pro319Arg) | gnomAD v4 COSMIC |