Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.43102345G>C | CA376770625 | RET | c.341G>C (p.Arg114Pro) c.262G>C c.243G>C c.283G>C c.240-126G>C c.74-8862G>C (n.74-8862G>C) c.74-9754G>C (n.74-9754G>C) | dbSNP |
10 | g.43102345G>T | CA376770624 | RET | c.341G>T (p.Arg114Leu) c.262G>T c.243G>T c.283G>T c.240-126G>T c.74-8862G>T (n.74-8862G>T) c.74-9754G>T (n.74-9754G>T) | ClinVar dbSNP |
10 | g.43102345G>A | CA009235 | RET | c.341G>A (p.Arg114His) c.262G>A c.243G>A c.283G>A c.240-126G>A c.74-8862G>A (n.74-8862G>A) c.74-9754G>A (n.74-9754G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |