Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178583028G>T | CA1991644 | TTN,TTN-AS1 | c.58071C>A (p.Ser19357Arg) c.39156C>A (p.Ser13052Arg) c.38955C>A (p.Ser12985Arg) c.38580C>A (p.Ser12860Arg) c.65775C>A (p.Ser21925Arg) c.60852C>A (p.Ser20284Arg) n.596+11579G>T n.2216G>T c.64872C>A (p.Ser21624Arg) c.38766C>A (p.Ser12922Arg) c.38625C>A (p.Ser12875Arg) c.64668C>A (p.Ser21556Arg) c.60066C>A (p.Ser20022Arg) c.60063C>A (p.Ser20021Arg) c.57105C>A (p.Ser19035Arg) c.38721C>A (p.Ser12907Arg) c.60216C>A (p.Ser20072Arg) c.60213C>A (p.Ser20071Arg) c.59646C>A (p.Ser19882Arg) c.56988C>A (p.Ser18996Arg) c.56907C>A (p.Ser18969Arg) c.38670C>A (p.Ser12890Arg) c.28524C>A (p.Ser9508Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178583028G>A | CA283624 | TTN,TTN-AS1 | c.58071C>T (p.Ser19357=) c.39156C>T (p.Ser13052=) c.38955C>T (p.Ser12985=) c.38580C>T (p.Ser12860=) c.65775C>T (p.Ser21925=) c.60852C>T (p.Ser20284=) n.596+11579G>A n.2216G>A c.64872C>T (p.Ser21624=) c.38766C>T (p.Ser12922=) c.38625C>T (p.Ser12875=) c.64668C>T (p.Ser21556=) c.60066C>T (p.Ser20022=) c.60063C>T (p.Ser20021=) c.57105C>T (p.Ser19035=) c.38721C>T (p.Ser12907=) c.60216C>T (p.Ser20072=) c.60213C>T (p.Ser20071=) c.59646C>T (p.Ser19882=) c.56988C>T (p.Ser18996=) c.56907C>T (p.Ser18969=) c.38670C>T (p.Ser12890=) c.28524C>T (p.Ser9508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |