| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427559C>G | CA35900412 | CRB1 | c.2234C>G (p.Thr745Arg) c.1115C>G (p.Thr372Arg) c.377C>G (p.Thr126Arg) c.1898C>G (p.Thr633Arg) n.135C>G c.2027C>G (p.Thr676Arg) c.2128+5603C>G (n.2128+5603C>G) n.2235C>G n.2443C>G c.1652C>G (p.Thr551Arg) c.677C>G (p.Thr226Arg) c.1391C>G (p.Thr464Arg) n.2187C>G n.2395C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427559C>A | CA35900398 | CRB1 | c.2234C>A (p.Thr745Lys) c.1115C>A (p.Thr372Lys) c.377C>A (p.Thr126Lys) c.1898C>A (p.Thr633Lys) n.135C>A c.2027C>A (p.Thr676Lys) c.2128+5603C>A (n.2128+5603C>A) n.2235C>A n.2443C>A c.1652C>A (p.Thr551Lys) c.677C>A (p.Thr226Lys) c.1391C>A (p.Thr464Lys) n.2187C>A n.2395C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427559C>T | CA228003 | CRB1 | c.2234C>T (p.Thr745Met) c.1115C>T (p.Thr372Met) c.377C>T (p.Thr126Met) c.1898C>T (p.Thr633Met) n.135C>T c.2027C>T (p.Thr676Met) c.2128+5603C>T (n.2128+5603C>T) n.2235C>T n.2443C>T c.1652C>T (p.Thr551Met) c.677C>T (p.Thr226Met) c.1391C>T (p.Thr464Met) n.2187C>T n.2395C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427559C= | CA1140496125 | CRB1 | c.2234C= (p.Thr745=) c.1115C= (p.Thr372=) c.377C= (p.Thr126=) c.1898C= (p.Thr633=) n.135C= c.2027C= (p.Thr676=) c.2128+5603C= (n.2128+5603C=) n.2235C= n.2443C= c.1652C= (p.Thr551=) c.677C= (p.Thr226=) c.1391C= (p.Thr464=) n.2187C= n.2395C= | dbSNP |