Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536370T>A | CA402141943 | DSG2 | c.1592T>A (p.Phe531Tyr) c.1058T>A (p.Phe353Tyr) | |
18 | g.31536370T>C | CA402141945 | DSG2 | c.1592T>C (p.Phe531Ser) c.1058T>C (p.Phe353Ser) | |
18 | g.31536370T>G | CA021499 | DSG2 | c.1592T>G (p.Phe531Cys) c.1058T>G (p.Phe353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536370T= | CA2293861988 | DSG2 | c.1592T= (p.Phe531=) c.1058T= (p.Phe353=) | |
18 | g.31536371C>A | CA402141947 | DSG2 | c.1593C>A (p.Phe531Leu) c.1059C>A (p.Phe353Leu) | |
18 | g.31536371C>G | CA402141948 | DSG2 | c.1593C>G (p.Phe531Leu) c.1059C>G (p.Phe353Leu) | |
18 | g.31536371C>T | CA503600766 | DSG2 | c.1593C>T (p.Phe531=) c.1059C>T (p.Phe353=) | ClinVar |
18 | g.31536372T>A | CA402141951 | DSG2 | c.1594T>A (p.Ser532Thr) c.1060T>A (p.Ser354Thr) | |
18 | g.31536372T>C | CA402141953 | DSG2 | c.1594T>C (p.Ser532Pro) c.1060T>C (p.Ser354Pro) | |
18 | g.31536372T>G | CA402141955 | DSG2 | c.1594T>G (p.Ser532Ala) c.1060T>G (p.Ser354Ala) | |
18 | g.31536373C>A | CA402141958 | DSG2 | c.1595C>A (p.Ser532Tyr) c.1061C>A (p.Ser354Tyr) | |
18 | g.31536373C>G | CA402141959 | DSG2 | c.1595C>G (p.Ser532Cys) c.1061C>G (p.Ser354Cys) | gnomAD v4 |
18 | g.31536373C>T | CA402141961 | DSG2 | c.1595C>T (p.Ser532Phe) c.1061C>T (p.Ser354Phe) | |
18 | g.31536374C>A | CA503600768 | DSG2 | c.1596C>A (p.Ser532=) c.1062C>A (p.Ser354=) | |
18 | g.31536374C= | CA2293861989 | DSG2 | c.1596C= (p.Ser532=) c.1062C= (p.Ser354=) | |
18 | g.31536374C>G | CA503600769 | DSG2 | c.1596C>G (p.Ser532=) c.1062C>G (p.Ser354=) | |
18 | g.31536374C>T | CA042931 | DSG2 | c.1596C>T (p.Ser532=) c.1062C>T (p.Ser354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.31536375G>A | CA042947 | DSG2 | c.1597G>A (p.Val533Ile) c.1063G>A (p.Val355Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536375G>C | CA402141970 | DSG2 | c.1597G>C (p.Val533Leu) c.1063G>C (p.Val355Leu) | |
18 | g.31536375G= | CA2293861990 | DSG2 | c.1597G= (p.Val533=) c.1063G= (p.Val355=) | |
18 | g.31536375G>T | CA402141978 | DSG2 | c.1597G>T (p.Val533Phe) c.1063G>T (p.Val355Phe) | |
18 | g.31536376T>A | CA402141980 | DSG2 | c.1598T>A (p.Val533Asp) c.1064T>A (p.Val355Asp) | |
18 | g.31536376T>C | CA402141981 | DSG2 | c.1598T>C (p.Val533Ala) c.1064T>C (p.Val355Ala) | |
18 | g.31536376T>G | CA402141984 | DSG2 | c.1598T>G (p.Val533Gly) c.1064T>G (p.Val355Gly) | |
18 | g.31536377C>A | CA503600771 | DSG2 | c.1599C>A (p.Val533=) c.1065C>A (p.Val355=) | |
18 | g.31536377C>G | CA503600772 | DSG2 | c.1599C>G (p.Val533=) c.1065C>G (p.Val355=) | |
18 | g.31536377C>T | CA503600774 | DSG2 | c.1599C>T (p.Val533=) c.1065C>T (p.Val355=) | ClinVar |
18 | g.31536378A>C | CA402141987 | DSG2 | c.1600A>C (p.Ile534Leu) c.1066A>C (p.Ile356Leu) | |
18 | g.31536378A>G | CA402141989 | DSG2 | c.1600A>G (p.Ile534Val) c.1066A>G (p.Ile356Val) | gnomAD v4 |
18 | g.31536378A>T | CA402141992 | DSG2 | c.1600A>T (p.Ile534Phe) c.1066A>T (p.Ile356Phe) | |
18 | g.31536379T>A | CA402141994 | DSG2 | c.1601T>A (p.Ile534Asn) c.1067T>A (p.Ile356Asn) | gnomAD v4 |
18 | g.31536379T>C | CA402141996 | DSG2 | c.1601T>C (p.Ile534Thr) c.1067T>C (p.Ile356Thr) | ClinVar dbSNP |
18 | g.31536379T>G | CA402141999 | DSG2 | c.1601T>G (p.Ile534Ser) c.1067T>G (p.Ile356Ser) | |
18 | g.31536380T>A | CA503600776 | DSG2 | c.1602T>A (p.Ile534=) c.1068T>A (p.Ile356=) | |
18 | g.31536380T>C | CA503600777 | DSG2 | c.1602T>C (p.Ile534=) c.1068T>C (p.Ile356=) | |
18 | g.31536380T>G | CA402142004 | DSG2 | c.1602T>G (p.Ile534Met) c.1068T>G (p.Ile356Met) | |
18 | g.31536381G>A | CA402142008 | DSG2 | c.1603G>A (p.Asp535Asn) c.1069G>A (p.Asp357Asn) | |
18 | g.31536381G>C | CA402142019 | DSG2 | c.1603G>C (p.Asp535His) c.1069G>C (p.Asp357His) | |
18 | g.31536381G>T | CA402142007 | DSG2 | c.1603G>T (p.Asp535Tyr) c.1069G>T (p.Asp357Tyr) | |
18 | g.31536382A>C | CA402142023 | DSG2 | c.1604A>C (p.Asp535Ala) c.1070A>C (p.Asp357Ala) | |
18 | g.31536382A>G | CA402142032 | DSG2 | c.1604A>G (p.Asp535Gly) c.1070A>G (p.Asp357Gly) | |
18 | g.31536382A>T | CA402142034 | DSG2 | c.1604A>T (p.Asp535Val) c.1070A>T (p.Asp357Val) | |
18 | g.31536383C>A | CA042967 | DSG2 | c.1605C>A (p.Asp535Glu) c.1071C>A (p.Asp357Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536383C= | CA2293861991 | DSG2 | c.1605C= (p.Asp535=) c.1071C= (p.Asp357=) | |
18 | g.31536383C>G | CA042988 | DSG2 | c.1605C>G (p.Asp535Glu) c.1071C>G (p.Asp357Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536383C>T | CA503600778 | DSG2 | c.1605C>T (p.Asp535=) c.1071C>T (p.Asp357=) | |
18 | g.31536384A>C | CA402142044 | DSG2 | c.1606A>C (p.Lys536Gln) c.1072A>C (p.Lys358Gln) | |
18 | g.31536384A>G | CA402142038 | DSG2 | c.1606A>G (p.Lys536Glu) c.1072A>G (p.Lys358Glu) | |
18 | g.31536384A>T | CA402142042 | DSG2 | c.1606A>T (p.Lys536Ter) c.1072A>T (p.Lys358Ter) | |
18 | g.31536385A>C | CA402142046 | DSG2 | c.1607A>C (p.Lys536Thr) c.1073A>C (p.Lys358Thr) |