Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937570T>A | CA6988565 | ATP7B | c.*1459A>T (n.*1459A>T) c.*2553A>T (n.*2553A>T) c.3188A>T (p.Asn1063Ile) c.3809A>T (p.Asn1270Ile) c.3476A>T (p.Asn1159Ile) c.3557A>T (p.Asn1186Ile) n.1050A>T c.3575A>T (p.Asn1192Ile) n.3948A>T n.675A>T c.2744A>T (p.Asn915Ile) c.2519A>T (p.Asn840Ile) c.3614A>T (p.Asn1205Ile) c.1587A>T c.*910A>T (n.*910A>T) n.4553A>T n.3154A>T c.3665A>T (p.Asn1222Ile) c.3713A>T (p.Asn1238Ile) c.3773A>T (p.Asn1258Ile) c.3323A>T (p.Asn1108Ile) c.1625A>T (p.Asn542Ile) c.1442A>T (p.Asn481Ile) c.3674A>T (p.Asn1225Ile) c.3626A>T (p.Asn1209Ile) c.3395A>T (p.Asn1132Ile) c.3296A>T (p.Asn1099Ile) c.2477A>T (p.Asn826Ile) n.4028A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937570T>C | CA252896 | ATP7B | c.*1459A>G (n.*1459A>G) c.*2553A>G (n.*2553A>G) c.3188A>G (p.Asn1063Ser) c.3809A>G (p.Asn1270Ser) c.3476A>G (p.Asn1159Ser) c.3557A>G (p.Asn1186Ser) n.1050A>G c.3575A>G (p.Asn1192Ser) n.3948A>G n.675A>G c.2744A>G (p.Asn915Ser) c.2519A>G (p.Asn840Ser) c.3614A>G (p.Asn1205Ser) c.1587A>G c.*910A>G (n.*910A>G) n.4553A>G n.3154A>G c.3665A>G (p.Asn1222Ser) c.3713A>G (p.Asn1238Ser) c.3773A>G (p.Asn1258Ser) c.3323A>G (p.Asn1108Ser) c.1625A>G (p.Asn542Ser) c.1442A>G (p.Asn481Ser) c.3674A>G (p.Asn1225Ser) c.3626A>G (p.Asn1209Ser) c.3395A>G (p.Asn1132Ser) c.3296A>G (p.Asn1099Ser) c.2477A>G (p.Asn826Ser) n.4028A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |