Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.43100520A>C | CA469490417 | RET | c.135A>C (p.Ala45=) c.37A>C c.74-10687A>C (n.74-10687A>C) c.74-11579A>C (n.74-11579A>C) | dbSNP |
10 | g.43100520A>G | CA009515 | RET | c.135A>G (p.Ala45=) c.37A>G c.74-10687A>G (n.74-10687A>G) c.74-11579A>G (n.74-11579A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.43100520A>T | CA469490418 | RET | c.135A>T (p.Ala45=) c.37A>T c.74-10687A>T (n.74-10687A>T) c.74-11579A>T (n.74-11579A>T) | ClinVar dbSNP |