| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51946443del | CA16619814 | ATP7B | c.*734del (n.*734del) c.*1645del (n.*1645del) c.2280del (p.Ile761SerfsTer?) c.2901del (p.Ile968SerfsTer?) c.2568del (p.Ile857SerfsTer?) c.2649del (p.Ile884SerfsTer?) c.2667del (p.Ile890SerfsTer?) n.1048del n.3264del c.1836del (p.Ile613SerfsTer?) c.1611del (p.Ile538SerfsTer?) c.2866-2152del (n.2866-2152del) n.121del c.862del c.*2del (n.*2del) n.3645del n.2246del c.2757del (p.Ile920SerfsTer?) n.247del c.2805del (p.Ile936SerfsTer?) c.2865del (p.Ile956SerfsTer?) c.2415del (p.Ile806SerfsTer?) c.717del (p.Ile240SerfsTer?) c.2766del (p.Ile923SerfsTer?) c.2487del (p.Ile830SerfsTer?) c.2730+3564del (n.2730+3564del) c.1569del (p.Ile524SerfsTer?) n.3120del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946443G= | CA3200933584 | ATP7B | c.*734C= (n.*734C=) c.*1645C= (n.*1645C=) c.2280C= (p.Ile760=) c.2901C= (p.Ile967=) c.2568C= (p.Ile856=) c.2649C= (p.Ile883=) c.2667C= (p.Ile889=) n.1048C= n.3264C= c.1836C= (p.Ile612=) c.1611C= (p.Ile537=) c.2866-2152C= (n.2866-2152C=) n.121C= c.862C= c.*2C= (n.*2C=) n.3645C= n.2246C= c.2757C= (p.Ile919=) n.247C= c.2805C= (p.Ile935=) c.2865C= (p.Ile955=) c.2415C= (p.Ile805=) c.717C= (p.Ile239=) c.2766C= (p.Ile922=) c.2487C= (p.Ile829=) c.2730+3564C= (n.2730+3564C=) c.1569C= (p.Ile523=) n.3120C= | dbSNP |