Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152141290C>A | CA115486 | SYNE1 | c.1693G>T (p.Val565Leu) c.25159G>T (p.Val8387Leu) c.25015G>T (p.Val8339Leu) c.561G>T c.894G>T c.891-1129G>T c.931G>T (p.Val311Leu) c.23944G>T (p.Val7982Leu) n.1907G>T c.3994G>T (p.Val1332Leu) n.8851G>T c.3097G>T (p.Val1033Leu) n.8743G>T n.1773G>T n.4181G>T n.1996G>T c.1624G>T (p.Val542Leu) c.25264G>T (p.Val8422Leu) c.25252G>T (p.Val8418Leu) c.25243G>T (p.Val8415Leu) c.25213G>T (p.Val8405Leu) c.25249G>T (p.Val8417Leu) c.25195G>T (p.Val8399Leu) c.25192G>T (p.Val8398Leu) c.25180G>T (p.Val8394Leu) c.25123G>T (p.Val8375Leu) c.25111G>T (p.Val8371Leu) c.25108G>T (p.Val8370Leu) c.25105G>T (p.Val8369Leu) c.25261G>T (p.Val8421Leu) c.25099G>T (p.Val8367Leu) c.23539G>T (p.Val7847Leu) c.23032G>T (p.Val7678Leu) c.18499G>T (p.Val6167Leu) c.1765G>T (p.Val589Leu) c.25237G>T (p.Val8413Leu) c.25186G>T (p.Val8396Leu) c.25039G>T (p.Val8347Leu) | ClinVar dbSNP |
6 | g.152141290C>T | CA4052914 | SYNE1 | c.1693G>A (p.Val565Met) c.25159G>A (p.Val8387Met) c.25015G>A (p.Val8339Met) c.561G>A c.894G>A c.891-1129G>A c.931G>A (p.Val311Met) c.23944G>A (p.Val7982Met) n.1907G>A c.3994G>A (p.Val1332Met) n.8851G>A c.3097G>A (p.Val1033Met) n.8743G>A n.1773G>A n.4181G>A n.1996G>A c.1624G>A (p.Val542Met) c.25264G>A (p.Val8422Met) c.25252G>A (p.Val8418Met) c.25243G>A (p.Val8415Met) c.25213G>A (p.Val8405Met) c.25249G>A (p.Val8417Met) c.25195G>A (p.Val8399Met) c.25192G>A (p.Val8398Met) c.25180G>A (p.Val8394Met) c.25123G>A (p.Val8375Met) c.25111G>A (p.Val8371Met) c.25108G>A (p.Val8370Met) c.25105G>A (p.Val8369Met) c.25261G>A (p.Val8421Met) c.25099G>A (p.Val8367Met) c.23539G>A (p.Val7847Met) c.23032G>A (p.Val7678Met) c.18499G>A (p.Val6167Met) c.1765G>A (p.Val589Met) c.25237G>A (p.Val8413Met) c.25186G>A (p.Val8396Met) c.25039G>A (p.Val8347Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |