Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71812822C>T | CA117145 | CDH23 | c.9565C>T (p.Arg3189Trp) c.3498C>T (n.3498C>T) c.3162C>T (n.3162C>T) c.9580C>T (p.Arg3194Trp) c.2845C>T (p.Arg949Trp) n.3101C>T c.256C>T (p.Arg86Trp) c.9760C>T (p.Arg3254Trp) c.9694C>T (p.Arg3232Trp) c.9757C>T (p.Arg3253Trp) c.9754C>T (p.Arg3252Trp) c.9700C>T (p.Arg3234Trp) c.9670C>T (p.Arg3224Trp) c.9625C>T (p.Arg3209Trp) c.9220C>T (p.Arg3074Trp) c.8578C>T (p.Arg2860Trp) c.6088C>T (p.Arg2030Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71812822C>G | CA5547128 | CDH23 | c.9565C>G (p.Arg3189Gly) c.3498C>G (n.3498C>G) c.3162C>G (n.3162C>G) c.9580C>G (p.Arg3194Gly) c.2845C>G (p.Arg949Gly) n.3101C>G c.256C>G (p.Arg86Gly) c.9760C>G (p.Arg3254Gly) c.9694C>G (p.Arg3232Gly) c.9757C>G (p.Arg3253Gly) c.9754C>G (p.Arg3252Gly) c.9700C>G (p.Arg3234Gly) c.9670C>G (p.Arg3224Gly) c.9625C>G (p.Arg3209Gly) c.9220C>G (p.Arg3074Gly) c.8578C>G (p.Arg2860Gly) c.6088C>G (p.Arg2030Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |