| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129533647_129533651delinsAACCC | CA1401213215 | RHO | c.976_980delinsAACCC (p.Asn326=) | |
| 3 | g.129533648_129533650delinsACC | CA1401213224 | RHO | c.977_979delinsACC (p.Asn326=) | |
| 3 | g.129533650_129533653del | CA270026 | RHO | c.979_982del (p.Pro327TrpfsTer?) | ClinVar dbSNP |
| 3 | g.129533651del | CA2579758050 | RHO | c.980del (p.Pro327HisfsTer?) | |
| 3 | g.129533650_129533651del | CA915941575 | RHO | c.979_980del (p.Pro327ThrfsTer3) | ClinVar dbSNP |
| 3 | g.129533650C>A | CA354471161 | RHO | c.979C>A (p.Pro327Thr) | dbSNP gnomAD v4 |
| 3 | g.129533650C= | CA1401213243 | RHO | c.979C= (p.Pro327=) | |
| 3 | g.129533650C>G | CA2607351 | RHO | c.979C>G (p.Pro327Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129533650C>T | CA354471162 | RHO | c.979C>T (p.Pro327Ser) | |
| 3 | g.129533651C>A | CA354471163 | RHO | c.980C>A (p.Pro327Gln) | |
| 3 | g.129533651C= | CA1401213246 | RHO | c.980C= (p.Pro327=) | |
| 3 | g.129533651C>G | CA354471165 | RHO | c.980C>G (p.Pro327Arg) | dbSNP |
| 3 | g.129533651C>T | CA354471164 | RHO | c.980C>T (p.Pro327Leu) | |
| 3 | g.129533652A= | CA1401213248 | RHO | c.981A= (p.Pro327=) | |
| 3 | g.129533652A>C | CA435623817 | RHO | c.981A>C (p.Pro327=) | dbSNP gnomAD v4 |
| 3 | g.129533652A>G | CA435623818 | RHO | c.981A>G (p.Pro327=) | |
| 3 | g.129533652A>T | CA435623819 | RHO | c.981A>T (p.Pro327=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533653del | CA2579758043 | RHO | c.982del (p.Leu328TrpfsTer?) | |
| 3 | g.129533653C>A | CA354471166 | RHO | c.982C>A (p.Leu328Met) | |
| 3 | g.129533653C>G | CA354471167 | RHO | c.982C>G (p.Leu328Val) | gnomAD v4 |
| 3 | g.129533653C>T | CA435623820 | RHO | c.982C>T (p.Leu328=) | |
| 3 | g.129533654T>A | CA354471168 | RHO | c.983T>A (p.Leu328Gln) | |
| 3 | g.129533654T>C | CA2607352 | RHO | c.983T>C (p.Leu328Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533654T>G | CA354471169 | RHO | c.983T>G (p.Leu328Arg) | gnomAD v4 |
| 3 | g.129533654T= | CA1401213253 | RHO | c.983T= (p.Leu328=) | |
| 3 | g.129533655G>A | CA435623821 | RHO | c.984G>A (p.Leu328=) | COSMIC |
| 3 | g.129533655G>C | CA435623822 | RHO | c.984G>C (p.Leu328=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533655G= | CA1401213256 | RHO | c.984G= (p.Leu328=) | |
| 3 | g.129533655G>T | CA435623823 | RHO | c.984G>T (p.Leu328=) | |
| 3 | g.129533656G>A | CA354471170 | RHO | c.985G>A (p.Gly329Ser) | |
| 3 | g.129533656G>C | CA354471171 | RHO | c.985G>C (p.Gly329Arg) | gnomAD v4 |
| 3 | g.129533656G>T | CA354471172 | RHO | c.985G>T (p.Gly329Cys) | |
| 3 | g.129533657G>A | CA354471173 | RHO | c.986G>A (p.Gly329Asp) | ClinVar gnomAD v4 |
| 3 | g.129533657G>C | CA354471174 | RHO | c.986G>C (p.Gly329Ala) | |
| 3 | g.129533657G>T | CA354471175 | RHO | c.986G>T (p.Gly329Val) | |
| 3 | g.129533658T>A | CA435623824 | RHO | c.987T>A (p.Gly329=) | |
| 3 | g.129533658T>C | CA435623825 | RHO | c.987T>C (p.Gly329=) | |
| 3 | g.129533658T>G | CA435623826 | RHO | c.987T>G (p.Gly329=) | |
| 3 | g.129533659G>A | CA354471178 | RHO | c.988G>A (p.Asp330Asn) | |
| 3 | g.129533659G>C | CA354471177 | RHO | c.988G>C (p.Asp330His) | |
| 3 | g.129533659G>T | CA354471176 | RHO | c.988G>T (p.Asp330Tyr) | |
| 3 | g.129533660A>C | CA354471179 | RHO | c.989A>C (p.Asp330Ala) | |
| 3 | g.129533660A>G | CA354471180 | RHO | c.989A>G (p.Asp330Gly) | |
| 3 | g.129533660A>T | CA354471181 | RHO | c.989A>T (p.Asp330Val) | |
| 3 | g.129533661C>A | CA354471182 | RHO | c.990C>A (p.Asp330Glu) | |
| 3 | g.129533661C= | CA1401213260 | RHO | c.990C= (p.Asp330=) | |
| 3 | g.129533661C>G | CA354471183 | RHO | c.990C>G (p.Asp330Glu) | |
| 3 | g.129533661C>T | CA2607353 | RHO | c.990C>T (p.Asp330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533662G>A | CA2607354 | RHO | c.991G>A (p.Asp331Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533662G>C | CA2607355 | RHO | c.991G>C (p.Asp331His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |