| 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 |
| 10 | g.71812822C= | CA1918892748 | CDH23 | c.9565C= (p.Arg3189=) c.3498C= (n.3498C=) c.3162C= (n.3162C=) c.9580C= (p.Arg3194=) c.2845C= (p.Arg949=) n.3101C= c.256C= (p.Arg86=) c.9760C= (p.Arg3254=) c.9694C= (p.Arg3232=) c.9757C= (p.Arg3253=) c.9754C= (p.Arg3252=) c.9700C= (p.Arg3234=) c.9670C= (p.Arg3224=) c.9625C= (p.Arg3209=) c.9220C= (p.Arg3074=) c.8578C= (p.Arg2860=) c.6088C= (p.Arg2030=) | dbSNP |
| 10 | g.71812822C>A | CA470282852 | CDH23 | c.9565C>A (p.Arg3189=) c.3498C>A (n.3498C>A) c.3162C>A (n.3162C>A) c.9580C>A (p.Arg3194=) c.2845C>A (p.Arg949=) n.3101C>A c.256C>A (p.Arg86=) c.9760C>A (p.Arg3254=) c.9694C>A (p.Arg3232=) c.9757C>A (p.Arg3253=) c.9754C>A (p.Arg3252=) c.9700C>A (p.Arg3234=) c.9670C>A (p.Arg3224=) c.9625C>A (p.Arg3209=) c.9220C>A (p.Arg3074=) c.8578C>A (p.Arg2860=) c.6088C>A (p.Arg2030=) | dbSNP gnomAD v4 |