| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71730595C>T | CA261780 | C10orf105,CDH23 | c.3706C>T (p.Arg1236Ter) c.3703C>T (p.Arg1235Ter) c.3721C>T (p.Arg1241Ter) c.-6+7133G>A (n.-6+7133G>A) n.398C>T c.3901C>T (p.Arg1301Ter) c.3835C>T (p.Arg1279Ter) c.3895C>T (p.Arg1299Ter) c.3841C>T (p.Arg1281Ter) c.3766C>T (p.Arg1256Ter) c.3361C>T (p.Arg1121Ter) c.2719C>T (p.Arg907Ter) c.229C>T (p.Arg77Ter) n.4144C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71730595C>G | CA377154879 | C10orf105,CDH23 | c.3706C>G (p.Arg1236Gly) c.3703C>G (p.Arg1235Gly) c.3721C>G (p.Arg1241Gly) c.-6+7133G>C (n.-6+7133G>C) n.398C>G c.3901C>G (p.Arg1301Gly) c.3835C>G (p.Arg1279Gly) c.3895C>G (p.Arg1299Gly) c.3841C>G (p.Arg1281Gly) c.3766C>G (p.Arg1256Gly) c.3361C>G (p.Arg1121Gly) c.2719C>G (p.Arg907Gly) c.229C>G (p.Arg77Gly) n.4144C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71730595C= | CA1918848944 | C10orf105,CDH23 | c.3706C= (p.Arg1236=) c.3703C= (p.Arg1235=) c.3721C= (p.Arg1241=) c.-6+7133G= (n.-6+7133G=) n.398C= c.3901C= (p.Arg1301=) c.3835C= (p.Arg1279=) c.3895C= (p.Arg1299=) c.3841C= (p.Arg1281=) c.3766C= (p.Arg1256=) c.3361C= (p.Arg1121=) c.2719C= (p.Arg907=) c.229C= (p.Arg77=) n.4144C= | dbSNP |
| 10 | g.71730595C>A | CA470066913 | C10orf105,CDH23 | c.3706C>A (p.Arg1236=) c.3703C>A (p.Arg1235=) c.3721C>A (p.Arg1241=) c.-6+7133G>T (n.-6+7133G>T) n.398C>A c.3901C>A (p.Arg1301=) c.3835C>A (p.Arg1279=) c.3895C>A (p.Arg1299=) c.3841C>A (p.Arg1281=) c.3766C>A (p.Arg1256=) c.3361C>A (p.Arg1121=) c.2719C>A (p.Arg907=) c.229C>A (p.Arg77=) n.4144C>A | dbSNP gnomAD v4 |