| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129532240C= | CA1401210824 | RHO | c.531-11C= (n.531-11C=) | |
| 3 | g.129532240C>T | CA546228482 | RHO | c.531-11C>T (n.531-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532241C>T | CA2577961789 | RHO | c.531-10C>T (n.531-10C>T) | gnomAD v4 |
| 3 | g.129532243G>C | CA2577961790 | RHO | c.531-8G>C (n.531-8G>C) | gnomAD v4 |
| 3 | g.129532244T>C | CA1401210826 | RHO | c.531-7T>C (n.531-7T>C) | dbSNP |
| 3 | g.129532244T= | CA1401210825 | RHO | c.531-7T= (n.531-7T=) | |
| 3 | g.129532248C>G | CA2667616712 | RHO | c.531-3C>G (n.531-3C>G) | gnomAD v4 |
| 3 | g.129532248C>T | CA2667616718 | RHO | c.531-3C>T (n.531-3C>T) | gnomAD v4 |
| 3 | g.129532249A>C | CA354499040 | RHO | c.531-2A>C (n.531-2A>C) | |
| 3 | g.129532249A>G | CA354499043 | RHO | c.531-2A>G (n.531-2A>G) | ClinVar |
| 3 | g.129532249A>T | CA354499046 | RHO | c.531-2A>T (n.531-2A>T) | |
| 3 | g.129532250G>A | CA354499049 | RHO | c.531-1G>A (n.531-1G>A) | |
| 3 | g.129532250G>C | CA354499051 | RHO | c.531-1G>C (n.531-1G>C) | |
| 3 | g.129532250G>T | CA354499050 | RHO | c.531-1G>T (n.531-1G>T) | |
| 3 | g.129532251G>A | CA435644623 | RHO | c.531G>A (p.Arg177=) | gnomAD v4 |
| 3 | g.129532251G>C | CA354499052 | RHO | c.531G>C (p.Arg177Ser) | |
| 3 | g.129532251G>T | CA354499053 | RHO | c.531G>T (p.Arg177Ser) | |
| 3 | g.129532252T>A | CA354499055 | RHO | c.532T>A (p.Tyr178Asn) | |
| 3 | g.129532252T>C | CA354499057 | RHO | c.532T>C (p.Tyr178His) | ClinVar dbSNP |
| 3 | g.129532252T>G | CA354499061 | RHO | c.532T>G (p.Tyr178Asp) | |
| 3 | g.129532252T= | CA1401210834 | RHO | c.532T= (p.Tyr178=) | |
| 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) | ClinVar |
| 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 |