Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532253A= | CA1401210844 | RHO | c.533A= (p.Tyr178=) | |
3 | g.129532253A>C | CA354499065 | RHO | c.533A>C (p.Tyr178Ser) | |
3 | g.129532253A>G | CA256672 | RHO | c.533A>G (p.Tyr178Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.129532253A>T | CA354499072 | RHO | c.533A>T (p.Tyr178Phe) | |
3 | g.129532254C>A | CA354499076 | RHO | c.534C>A (p.Tyr178Ter) | |
3 | g.129532254C>G | CA354499079 | RHO | c.534C>G (p.Tyr178Ter) | |
3 | g.129532254C>T | CA435644630 | RHO | c.534C>T (p.Tyr178=) | |
3 | g.129532255A>C | CA354499081 | RHO | c.535A>C (p.Ile179Leu) | |
3 | g.129532255A>G | CA354499083 | RHO | c.535A>G (p.Ile179Val) | |
3 | g.129532255A>T | CA354499085 | RHO | c.535A>T (p.Ile179Phe) | |
3 | g.129532256T>A | CA354499087 | RHO | c.536T>A (p.Ile179Asn) | |
3 | g.129532256T>C | CA354499094 | RHO | c.536T>C (p.Ile179Thr) | gnomAD v4 |
3 | g.129532256T>G | CA354499092 | RHO | c.536T>G (p.Ile179Ser) | |
3 | g.129532256_129532257delinsTC | CA1401210855 | RHO | c.536_537delinsTC (p.Ile179=) | |
3 | g.129532257C>A | CA435644634 | RHO | c.537C>A (p.Ile179=) | |
3 | g.129532257C>G | CA354499095 | RHO | c.537C>G (p.Ile179Met) | |
3 | g.129532257C>T | CA435644636 | RHO | c.537C>T (p.Ile179=) | |
3 | g.129532260del | CA898753006 | RHO | c.540del (p.Glu181ArgfsTer?) | ClinVar dbSNP |
3 | g.129532258C>A | CA354499098 | RHO | c.538C>A (p.Pro180Thr) | ClinVar dbSNP |
3 | g.129532258C= | CA1401210870 | RHO | c.538C= (p.Pro180=) | |
3 | g.129532258C>G | CA354499102 | RHO | c.538C>G (p.Pro180Ala) | ClinVar dbSNP |
3 | g.129532258C>T | CA354499107 | RHO | c.538C>T (p.Pro180Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.129532259C>A | CA354499113 | RHO | c.539C>A (p.Pro180His) | |
3 | g.129532259C= | CA1401210885 | RHO | c.539C= (p.Pro180=) | |
3 | g.129532259C>G | CA354499115 | RHO | c.539C>G (p.Pro180Arg) | ClinVar dbSNP |
3 | g.129532259C>T | CA354499117 | RHO | c.539C>T (p.Pro180Leu) | ClinVar dbSNP |
3 | g.129532260C>A | CA435644638 | RHO | c.540C>A (p.Pro180=) | |
3 | g.129532260C= | CA1401210888 | RHO | c.540C= (p.Pro180=) | |
3 | g.129532260C>G | CA435644639 | RHO | c.540C>G (p.Pro180=) | gnomAD v4 |
3 | g.129532260C>T | CA2607203 | RHO | c.540C>T (p.Pro180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129532261G>A | CA275168 | RHO | c.541G>A (p.Glu181Lys) | ClinVar dbSNP COSMIC |
3 | g.129532261G>C | CA2607204 | RHO | c.541G>C (p.Glu181Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129532261G= | CA1401210897 | RHO | c.541G= (p.Glu181=) | |
3 | g.129532261G>T | CA354499124 | RHO | c.541G>T (p.Glu181Ter) | |
3 | g.129532262A>C | CA354499130 | RHO | c.542A>C (p.Glu181Ala) | |
3 | g.129532262A>G | CA354499127 | RHO | c.542A>G (p.Glu181Gly) | |
3 | g.129532262A>T | CA354499126 | RHO | c.542A>T (p.Glu181Val) | |
3 | g.129532263G>A | CA435644643 | RHO | c.543G>A (p.Glu181=) | |
3 | g.129532263G>C | CA354499137 | RHO | c.543G>C (p.Glu181Asp) | |
3 | g.129532263G>T | CA354499135 | RHO | c.543G>T (p.Glu181Asp) | |
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=) |