| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178534401A>G | CA1985790 | TTN,TTN-AS1 | c.94510T>C (p.Trp31504Arg) c.75595T>C (p.Trp25199Arg) c.75394T>C (p.Trp25132Arg) c.75019T>C (p.Trp25007Arg) c.102214T>C (p.Trp34072Arg) c.97291T>C (p.Trp32431Arg) n.446+10765A>G n.220-1331A>G c.101311T>C (p.Trp33771Arg) c.75205T>C (p.Trp25069Arg) c.75064T>C (p.Trp25022Arg) c.101107T>C (p.Trp33703Arg) c.96505T>C (p.Trp32169Arg) c.96502T>C (p.Trp32168Arg) c.93544T>C (p.Trp31182Arg) c.75160T>C (p.Trp25054Arg) c.96655T>C (p.Trp32219Arg) c.96652T>C (p.Trp32218Arg) c.96085T>C (p.Trp32029Arg) c.93427T>C (p.Trp31143Arg) c.93346T>C (p.Trp31116Arg) c.75109T>C (p.Trp25037Arg) c.64963T>C (p.Trp21655Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178534401A= | CA1310519061 | TTN,TTN-AS1 | c.94510T= (p.Trp31504=) c.75595T= (p.Trp25199=) c.75394T= (p.Trp25132=) c.75019T= (p.Trp25007=) c.102214T= (p.Trp34072=) c.97291T= (p.Trp32431=) n.446+10765A= n.220-1331A= c.101311T= (p.Trp33771=) c.75205T= (p.Trp25069=) c.75064T= (p.Trp25022=) c.101107T= (p.Trp33703=) c.96505T= (p.Trp32169=) c.96502T= (p.Trp32168=) c.93544T= (p.Trp31182=) c.75160T= (p.Trp25054=) c.96655T= (p.Trp32219=) c.96652T= (p.Trp32218=) c.96085T= (p.Trp32029=) c.93427T= (p.Trp31143=) c.93346T= (p.Trp31116=) c.75109T= (p.Trp25037=) c.64963T= (p.Trp21655=) | dbSNP |