Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532264G>A | CA256679 | RHO | c.544G>A (p.Gly182Ser) | ClinVar dbSNP |
3 | g.129532264G>C | CA354499141 | RHO | c.544G>C (p.Gly182Arg) | |
3 | g.129532264G= | CA1401210908 | RHO | c.544G= (p.Gly182=) | |
3 | g.129532264G>T | CA354499145 | RHO | c.544G>T (p.Gly182Cys) | |
3 | g.129532265G>A | CA354499146 | RHO | c.545G>A (p.Gly182Asp) | ClinVar dbSNP |
3 | g.129532265G>C | CA354499151 | RHO | c.545G>C (p.Gly182Ala) | |
3 | g.129532265G= | CA1401210916 | RHO | c.545G= (p.Gly182=) | |
3 | g.129532265G>T | CA354499148 | RHO | c.545G>T (p.Gly182Val) | ClinVar dbSNP |
3 | g.129532265_129532266delinsAA | CA1139655827 | RHO | c.545_546delinsAA (p.Gly182Glu) | ClinVar dbSNP |
3 | g.129532265_129532266delinsGC | CA1401210919 | RHO | c.545_546delinsGC (p.Gly182=) | |
3 | g.129532266C>A | CA435644645 | RHO | c.546C>A (p.Gly182=) | |
3 | g.129532266C= | CA1401210929 | RHO | c.546C= (p.Gly182=) | |
3 | g.129532266C>G | CA435644646 | RHO | c.546C>G (p.Gly182=) | |
3 | g.129532266C>T | CA435644647 | RHO | c.546C>T (p.Gly182=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.129532267C>A | CA354499154 | RHO | c.547C>A (p.Leu183Met) | |
3 | g.129532267C>G | CA354499162 | RHO | c.547C>G (p.Leu183Val) | |
3 | g.129532267C>T | CA435644648 | RHO | c.547C>T (p.Leu183=) | |
3 | g.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?) | ClinVar dbSNP |
3 | g.129532268T>A | CA354499166 | RHO | c.548T>A (p.Leu183Gln) | |
3 | g.129532268T>C | CA354499170 | RHO | c.548T>C (p.Leu183Pro) | |
3 | g.129532268T>G | CA354499173 | RHO | c.548T>G (p.Leu183Arg) | |
3 | g.129532268T= | CA1401210941 | RHO | c.548T= (p.Leu183=) | |
3 | g.129532269G>A | CA435644652 | RHO | c.549G>A (p.Leu183=) | |
3 | g.129532269G>C | CA435644653 | RHO | c.549G>C (p.Leu183=) | |
3 | g.129532269G>T | CA435644654 | RHO | c.549G>T (p.Leu183=) | |
3 | g.129532269dup | CA891862902 | RHO | c.549dup (p.Gln184AlafsTer?) | ClinVar dbSNP |
3 | g.129532270C>A | CA354499176 | RHO | c.550C>A (p.Gln184Lys) | |
3 | g.129532270C>G | CA354499180 | RHO | c.550C>G (p.Gln184Glu) | |
3 | g.129532270C>T | CA354499182 | RHO | c.550C>T (p.Gln184Ter) | |
3 | g.129532271A= | CA1401210951 | RHO | c.551A= (p.Gln184=) | |
3 | g.129532271A>C | CA354499185 | RHO | c.551A>C (p.Gln184Pro) | |
3 | g.129532271A>G | CA354499186 | RHO | c.551A>G (p.Gln184Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532271A>T | CA354499187 | RHO | c.551A>T (p.Gln184Leu) | |
3 | g.129532272G>A | CA435644657 | RHO | c.552G>A (p.Gln184=) | |
3 | g.129532272G>C | CA354499191 | RHO | c.552G>C (p.Gln184His) | |
3 | g.129532272G>T | CA354499193 | RHO | c.552G>T (p.Gln184His) | |
3 | g.129532273T>A | CA354499201 | RHO | c.553T>A (p.Cys185Ser) | |
3 | g.129532273T>C | CA354499200 | RHO | c.553T>C (p.Cys185Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.129532273T>G | CA354499198 | RHO | c.553T>G (p.Cys185Gly) | |
3 | g.129532273T= | CA1401210960 | RHO | c.553T= (p.Cys185=) | |
3 | g.129532274G>A | CA354499204 | RHO | c.554G>A (p.Cys185Tyr) | ClinVar |
3 | g.129532274G>C | CA354499207 | RHO | c.554G>C (p.Cys185Ser) | |
3 | g.129532274G>T | CA354499210 | RHO | c.554G>T (p.Cys185Phe) | gnomAD v4 |
3 | g.129532275C>A | CA354499211 | RHO | c.555C>A (p.Cys185Ter) | |
3 | g.129532275C>G | CA354499212 | RHO | c.555C>G (p.Cys185Trp) | |
3 | g.129532275C>T | CA435644666 | RHO | c.555C>T (p.Cys185=) | gnomAD v4 |
3 | g.129532276T>A | CA354499213 | RHO | c.556T>A (p.Ser186Thr) | |
3 | g.129532276T>C | CA354499214 | RHO | c.556T>C (p.Ser186Pro) | ClinVar |
3 | g.129532276T>G | CA354499216 | RHO | c.556T>G (p.Ser186Ala) | |
3 | g.129532277C>A | CA354499219 | RHO | c.557C>A (p.Ser186Ter) |