| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129532418_129532533del | CA2758361659 | RHO | c.696+2_697del | |
| 3 | g.129532528T>A | CA2577961804 | RHO | c.697-5T>A (n.697-5T>A) | |
| 3 | g.129532529G>A | CA1401211533 | RHO | c.697-4G>A (n.697-4G>A) | dbSNP |
| 3 | g.129532529G= | CA1401211532 | RHO | c.697-4G= (n.697-4G=) | |
| 3 | g.129532530C>A | CA2573052082 | RHO | c.697-3C>A (n.697-3C>A) | ClinVar dbSNP |
| 3 | g.129532531A>C | CA354470163 | RHO | c.697-2A>C (n.697-2A>C) | |
| 3 | g.129532531A>G | CA354470165 | RHO | c.697-2A>G (n.697-2A>G) | |
| 3 | g.129532531A>T | CA354470164 | RHO | c.697-2A>T (n.697-2A>T) | |
| 3 | g.129532532G>A | CA354470166 | RHO | c.697-1G>A (n.697-1G>A) | |
| 3 | g.129532532G>C | CA354470167 | RHO | c.697-1G>C (n.697-1G>C) | |
| 3 | g.129532532G>T | CA354470168 | RHO | c.697-1G>T (n.697-1G>T) | |
| 3 | g.129532533G>A | CA354470169 | RHO | c.697G>A (p.Ala233Thr) | COSMIC |
| 3 | g.129532533G>C | CA354470170 | RHO | c.697G>C (p.Ala233Pro) | |
| 3 | g.129532533G>T | CA354470171 | RHO | c.697G>T (p.Ala233Ser) | |
| 3 | g.129532534C>A | CA354470172 | RHO | c.698C>A (p.Ala233Asp) | |
| 3 | g.129532534C>G | CA354470173 | RHO | c.698C>G (p.Ala233Gly) | |
| 3 | g.129532534C>T | CA354470174 | RHO | c.698C>T (p.Ala233Val) | gnomAD v4 |
| 3 | g.129532535C>A | CA435769034 | RHO | c.699C>A (p.Ala233=) | dbSNP |
| 3 | g.129532535C= | CA1401211537 | RHO | c.699C= (p.Ala233=) | |
| 3 | g.129532535C>G | CA435769035 | RHO | c.699C>G (p.Ala233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532535C>T | CA435769036 | RHO | c.699C>T (p.Ala233=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129532536G>A | CA2607272 | RHO | c.700G>A (p.Ala234Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532536G>C | CA354470175 | RHO | c.700G>C (p.Ala234Pro) | |
| 3 | g.129532536G= | CA1401211546 | RHO | c.700G= (p.Ala234=) | |
| 3 | g.129532536G>T | CA2607271 | RHO | c.700G>T (p.Ala234Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532537C>A | CA354470178 | RHO | c.701C>A (p.Ala234Asp) | |
| 3 | g.129532537C>G | CA354470176 | RHO | c.701C>G (p.Ala234Gly) | |
| 3 | g.129532537C>T | CA354470177 | RHO | c.701C>T (p.Ala234Val) | |
| 3 | g.129532538T>A | CA435769037 | RHO | c.702T>A (p.Ala234=) | |
| 3 | g.129532538T>C | CA435769038 | RHO | c.702T>C (p.Ala234=) | |
| 3 | g.129532538T>G | CA435769039 | RHO | c.702T>G (p.Ala234=) | |
| 3 | g.129532539G>A | CA354470179 | RHO | c.703G>A (p.Ala235Thr) | ClinVar dbSNP |
| 3 | g.129532539G>C | CA354470180 | RHO | c.703G>C (p.Ala235Pro) | |
| 3 | g.129532539G>T | CA354470181 | RHO | c.703G>T (p.Ala235Ser) | |
| 3 | g.129532540C>A | CA354470182 | RHO | c.704C>A (p.Ala235Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532540C= | CA1401211552 | RHO | c.704C= (p.Ala235=) | |
| 3 | g.129532540C>G | CA354470183 | RHO | c.704C>G (p.Ala235Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532540C>T | CA354470184 | RHO | c.704C>T (p.Ala235Val) | |
| 3 | g.129532541C>A | CA435769040 | RHO | c.705C>A (p.Ala235=) | |
| 3 | g.129532541C>G | CA435769041 | RHO | c.705C>G (p.Ala235=) | |
| 3 | g.129532541C>T | CA435769042 | RHO | c.705C>T (p.Ala235=) | |
| 3 | g.129532542C>A | CA354470185 | RHO | c.706C>A (p.Gln236Lys) | ClinVar gnomAD v4 |
| 3 | g.129532542C>G | CA354470186 | RHO | c.706C>G (p.Gln236Glu) | |
| 3 | g.129532542C>T | CA354470187 | RHO | c.706C>T (p.Gln236Ter) | |
| 3 | g.129532543A>C | CA354470188 | RHO | c.707A>C (p.Gln236Pro) | |
| 3 | g.129532543A>G | CA354470189 | RHO | c.707A>G (p.Gln236Arg) | |
| 3 | g.129532543A>T | CA354470190 | RHO | c.707A>T (p.Gln236Leu) | |
| 3 | g.129532544G>A | CA435769043 | RHO | c.708G>A (p.Gln236=) | |
| 3 | g.129532544G>C | CA354470192 | RHO | c.708G>C (p.Gln236His) | |
| 3 | g.129532544G>T | CA354470191 | RHO | c.708G>T (p.Gln236His) |