UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129528902C>A | CA354496028 | RHO | c.169C>A (p.Leu57Ile) | |
| 3 | g.129528902C>G | CA354496029 | RHO | c.169C>G (p.Leu57Val) | |
| 3 | g.129528902C>T | CA354496030 | RHO | c.169C>T (p.Leu57Phe) | dbSNP |
| 3 | g.129528903T>A | CA354496032 | RHO | c.170T>A (p.Leu57His) | |
| 3 | g.129528903T>C | CA354496033 | RHO | c.170T>C (p.Leu57Pro) | |
| 3 | g.129528903T>G | CA354496031 | RHO | c.170T>G (p.Leu57Arg) | |
| 3 | g.129528904C>A | CA435768946 | RHO | c.171C>A (p.Leu57=) | |
| 3 | g.129528904C= | CA1401205493 | RHO | c.171C= (p.Leu57=) | |
| 3 | g.129528904C>G | CA435768948 | RHO | c.171C>G (p.Leu57=) | |
| 3 | g.129528904C>T | CA2607072 | RHO | c.171C>T (p.Leu57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528905A>C | CA354496036 | RHO | c.172A>C (p.Thr58Pro) | |
| 3 | g.129528905A>G | CA354496037 | RHO | c.172A>G (p.Thr58Ala) | |
| 3 | g.129528905A>T | CA354496040 | RHO | c.172A>T (p.Thr58Ser) | |
| 3 | g.129528905_129528906delinsAC | CA1401205498 | RHO | c.172_173delinsAC (p.Thr58=) | |
| 3 | g.129528905_129528906delinsTA | CA916082603 | RHO | c.172_173delinsTA (p.Thr58Ter) | ClinVar dbSNP |
| 3 | g.129528906C>A | CA354496045 | RHO | c.173C>A (p.Thr58Lys) | gnomAD v4 |
| 3 | g.129528906C= | CA1401205509 | RHO | c.173C= (p.Thr58=) | |
| 3 | g.129528906C>G | CA256664 | RHO | c.173C>G (p.Thr58Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528906C>T | CA2607073 | RHO | c.173C>T (p.Thr58Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528907G>A | CA2607074 | RHO | c.174G>A (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528907G>C | CA435768949 | RHO | c.174G>C (p.Thr58=) | |
| 3 | g.129528907G= | CA1401205513 | RHO | c.174G= (p.Thr58=) | |
| 3 | g.129528907G>T | CA435768950 | RHO | c.174G>T (p.Thr58=) | |
| 3 | g.129528908C>A | CA354496050 | RHO | c.175C>A (p.Leu59Ile) | dbSNP |
| 3 | g.129528908C= | CA1401205519 | RHO | c.175C= (p.Leu59=) | |
| 3 | g.129528908C>G | CA354496054 | RHO | c.175C>G (p.Leu59Val) | |
| 3 | g.129528908C>T | CA2607075 | RHO | c.175C>T (p.Leu59Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528909T>A | CA354496057 | RHO | c.176T>A (p.Leu59His) | ClinVar dbSNP |
| 3 | g.129528909T>C | CA354496058 | RHO | c.176T>C (p.Leu59Pro) | |
| 3 | g.129528909T>G | CA354496062 | RHO | c.176T>G (p.Leu59Arg) | ClinVar dbSNP |
| 3 | g.129528910C>A | CA435768952 | RHO | c.177C>A (p.Leu59=) | |
| 3 | g.129528910C= | CA1401205523 | RHO | c.177C= (p.Leu59=) | |
| 3 | g.129528910C>G | CA2607076 | RHO | c.177C>G (p.Leu59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528910C>T | CA435768953 | RHO | c.177C>T (p.Leu59=) | |
| 3 | g.129528911T>A | CA354496067 | RHO | c.178T>A (p.Tyr60Asn) | |
| 3 | g.129528911T>C | CA2607077 | RHO | c.178T>C (p.Tyr60His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528911T>G | CA354496079 | RHO | c.178T>G (p.Tyr60Asp) | |
| 3 | g.129528911T= | CA1401205528 | RHO | c.178T= (p.Tyr60=) | |
| 3 | g.129528912A>C | CA354496080 | RHO | c.179A>C (p.Tyr60Ser) | |
| 3 | g.129528912A>G | CA354496082 | RHO | c.179A>G (p.Tyr60Cys) | |
| 3 | g.129528912A>T | CA354496085 | RHO | c.179A>T (p.Tyr60Phe) | |
| 3 | g.129528913C>A | CA270021 | RHO | c.180C>A (p.Tyr60Ter) | ClinVar dbSNP |
| 3 | g.129528913C= | CA1401205532 | RHO | c.180C= (p.Tyr60=) | |
| 3 | g.129528913C>G | CA354496086 | RHO | c.180C>G (p.Tyr60Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528913C>T | CA435768956 | RHO | c.180C>T (p.Tyr60=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528914G>A | CA2607078 | RHO | c.181G>A (p.Val61Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528914G>C | CA354496087 | RHO | c.181G>C (p.Val61Leu) | |
| 3 | g.129528914G= | CA1401205542 | RHO | c.181G= (p.Val61=) | |
| 3 | g.129528914G>T | CA354496088 | RHO | c.181G>T (p.Val61Phe) | |
| 3 | g.129528915T>A | CA354496091 | RHO | c.182T>A (p.Val61Asp) | |
| 3 | g.129528915T>C | CA354496092 | RHO | c.182T>C (p.Val61Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528915T>G | CA354496094 | RHO | c.182T>G (p.Val61Gly) | |
| 3 | g.129528915T= | CA1401205550 | RHO | c.182T= (p.Val61=) | |
| 3 | g.129528916C>A | CA435768957 | RHO | c.183C>A (p.Val61=) | |
| 3 | g.129528916C>G | CA435768958 | RHO | c.183C>G (p.Val61=) | |
| 3 | g.129528916C>T | CA435768959 | RHO | c.183C>T (p.Val61=) | |
| 3 | g.129528917A= | CA1401205553 | RHO | c.184A= (p.Thr62=) | |
| 3 | g.129528917A>C | CA354496101 | RHO | c.184A>C (p.Thr62Pro) | |
| 3 | g.129528917A>G | CA2607079 | RHO | c.184A>G (p.Thr62Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129528917A>T | CA354496097 | RHO | c.184A>T (p.Thr62Ser) | |
| 3 | g.129528918C>A | CA2607080 | RHO | c.185C>A (p.Thr62Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528918C= | CA1401205558 | RHO | c.185C= (p.Thr62=) | |
| 3 | g.129528918C>G | CA354496106 | RHO | c.185C>G (p.Thr62Ser) | |
| 3 | g.129528918C>T | CA354496105 | RHO | c.185C>T (p.Thr62Ile) | |
| 3 | g.129528919dup | CA1053434404 | RHO | c.186dup (p.Val63ArgfsTer21) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528919C>A | CA435768961 | RHO | c.186C>A (p.Thr62=) | gnomAD v4 |
| 3 | g.129528919C= | CA1401205567 | RHO | c.186C= (p.Thr62=) | |
| 3 | g.129528919C>G | CA435768962 | RHO | c.186C>G (p.Thr62=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528919C>T | CA2607081 | RHO | c.186C>T (p.Thr62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528920G>A | CA2607082 | RHO | c.187G>A (p.Val63Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528920G>C | CA354496110 | RHO | c.187G>C (p.Val63Leu) | |
| 3 | g.129528920G= | CA1401205572 | RHO | c.187G= (p.Val63=) | |
| 3 | g.129528920G>T | CA354496111 | RHO | c.187G>T (p.Val63Phe) | |
| 3 | g.129528921T>A | CA354496114 | RHO | c.188T>A (p.Val63Asp) | |
| 3 | g.129528921T>C | CA354496117 | RHO | c.188T>C (p.Val63Ala) | |
| 3 | g.129528921T>G | CA354496118 | RHO | c.188T>G (p.Val63Gly) | |
| 3 | g.129528922C>A | CA435768965 | RHO | c.189C>A (p.Val63=) | dbSNP |
| 3 | g.129528922C>G | CA435768966 | RHO | c.189C>G (p.Val63=) | |
| 3 | g.129528922C>T | CA435768968 | RHO | c.189C>T (p.Val63=) | |
| 3 | g.129528923C>A | CA354496121 | RHO | c.190C>A (p.Gln64Lys) | |
| 3 | g.129528923C= | CA1401205584 | RHO | c.190C= (p.Gln64=) | |
| 3 | g.129528923C>G | CA354496123 | RHO | c.190C>G (p.Gln64Glu) | |
| 3 | g.129528923C>T | CA354496130 | RHO | c.190C>T (p.Gln64Ter) | ClinVar dbSNP |
| 3 | g.129528924A>C | CA354496132 | RHO | c.191A>C (p.Gln64Pro) | gnomAD v4 |
| 3 | g.129528924A>G | CA354496136 | RHO | c.191A>G (p.Gln64Arg) | |
| 3 | g.129528924A>T | CA354496141 | RHO | c.191A>T (p.Gln64Leu) | |
| 3 | g.129528925G>A | CA435768969 | RHO | c.192G>A (p.Gln64=) | |
| 3 | g.129528925G>C | CA354496143 | RHO | c.192G>C (p.Gln64His) | |
| 3 | g.129528925G>T | CA354496144 | RHO | c.192G>T (p.Gln64His) | |
| 3 | g.129528927_129528938del | CA2580068732 | RHO | c.194_205del (p.His65_Leu68del) | ClinVar |
| 3 | g.129528926C>A | CA354496146 | RHO | c.193C>A (p.His65Asn) | |
| 3 | g.129528926C>G | CA354496149 | RHO | c.193C>G (p.His65Asp) | |
| 3 | g.129528926C>T | CA354496156 | RHO | c.193C>T (p.His65Tyr) | |
| 3 | g.129528927A= | CA1401205590 | RHO | c.194A= (p.His65=) | |
| 3 | g.129528927A>C | CA354496163 | RHO | c.194A>C (p.His65Pro) | dbSNP |
| 3 | g.129528927A>G | CA354496164 | RHO | c.194A>G (p.His65Arg) | ClinVar dbSNP |
| 3 | g.129528927A>T | CA354496167 | RHO | c.194A>T (p.His65Leu) | ClinVar dbSNP |
| 3 | g.129528928C>A | CA354496171 | RHO | c.195C>A (p.His65Gln) | |
| 3 | g.129528928C>G | CA354496173 | RHO | c.195C>G (p.His65Gln) | |
| 3 | g.129528928C>T | CA435768972 | RHO | c.195C>T (p.His65=) | |
| 3 | g.129528929A>C | CA354496175 | RHO | c.196A>C (p.Lys66Gln) | gnomAD v4 |
| 3 | g.129528929A>G | CA354496178 | RHO | c.196A>G (p.Lys66Glu) | |
| 3 | g.129528929A>T | CA354496181 | RHO | c.196A>T (p.Lys66Ter) | ClinVar dbSNP |
| 3 | g.129528930A>C | CA354496186 | RHO | c.197A>C (p.Lys66Thr) | |
| 3 | g.129528930A>G | CA354496189 | RHO | c.197A>G (p.Lys66Arg) | |
| 3 | g.129528930A>T | CA354496183 | RHO | c.197A>T (p.Lys66Met) | |
| 3 | g.129528931G>A | CA435768973 | RHO | c.198G>A (p.Lys66=) | |
| 3 | g.129528931G>C | CA354496191 | RHO | c.198G>C (p.Lys66Asn) | |
| 3 | g.129528931G>T | CA354496193 | RHO | c.198G>T (p.Lys66Asn) | |
| 3 | g.129528932A>C | CA354496196 | RHO | c.199A>C (p.Lys67Gln) | |
| 3 | g.129528932A>G | CA354496200 | RHO | c.199A>G (p.Lys67Glu) | |
| 3 | g.129528932A>T | CA354496202 | RHO | c.199A>T (p.Lys67Ter) | |
| 3 | g.129528933A= | CA1401205597 | RHO | c.200A= (p.Lys67=) | |
| 3 | g.129528933A>C | CA354496203 | RHO | c.200A>C (p.Lys67Thr) | |
| 3 | g.129528933A>G | CA354496204 | RHO | c.200A>G (p.Lys67Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528933A>T | CA354496205 | RHO | c.200A>T (p.Lys67Met) | |
| 3 | g.129528934G>A | CA2607083 | RHO | c.201G>A (p.Lys67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528934G>C | CA354496210 | RHO | c.201G>C (p.Lys67Asn) | gnomAD v4 |
| 3 | g.129528934G= | CA1401205600 | RHO | c.201G= (p.Lys67=) | |
| 3 | g.129528934G>T | CA354496215 | RHO | c.201G>T (p.Lys67Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528934_129528946delinsGCTGCGCACGCCT | CA1401205605 | RHO | c.201_213delinsGCTGCGCACGCCT (p.Lys67=) | |
| 3 | g.129528935C>A | CA354496216 | RHO | c.202C>A (p.Leu68Met) | |
| 3 | g.129528935C>G | CA354496217 | RHO | c.202C>G (p.Leu68Val) | |
| 3 | g.129528935C>T | CA435768975 | RHO | c.202C>T (p.Leu68=) | |
| 3 | g.129528937_129528948del | CA1139655813 | RHO | c.204_215del (p.Arg69_Leu72del) | ClinVar dbSNP |
| 3 | g.129528936T>A | CA354496220 | RHO | c.203T>A (p.Leu68Gln) | |
| 3 | g.129528936T>C | CA354496219 | RHO | c.203T>C (p.Leu68Pro) | gnomAD v4 |
| 3 | g.129528936T>G | CA2607084 | RHO | c.203T>G (p.Leu68Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528936T= | CA1401205613 | RHO | c.203T= (p.Leu68=) | |
| 3 | g.129528937G>A | CA435768976 | RHO | c.204G>A (p.Leu68=) | |
| 3 | g.129528937G>C | CA435768977 | RHO | c.204G>C (p.Leu68=) | |
| 3 | g.129528937G>T | CA435768978 | RHO | c.204G>T (p.Leu68=) | |
| 3 | g.129528938C>A | CA354496225 | RHO | c.205C>A (p.Arg69Ser) | |
| 3 | g.129528938C= | CA1401205617 | RHO | c.205C= (p.Arg69=) | |
| 3 | g.129528938C>G | CA354496228 | RHO | c.205C>G (p.Arg69Gly) | |
| 3 | g.129528938C>T | CA2607085 | RHO | c.205C>T (p.Arg69Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528939G>A | CA2607086 | RHO | c.206G>A (p.Arg69His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528939G>C | CA354496237 | RHO | c.206G>C (p.Arg69Pro) | |
| 3 | g.129528939G= | CA1401205623 | RHO | c.206G= (p.Arg69=) | |
| 3 | g.129528939G>T | CA354496239 | RHO | c.206G>T (p.Arg69Leu) | gnomAD v4 |
| 3 | g.129528940C>A | CA435768979 | RHO | c.207C>A (p.Arg69=) | |
| 3 | g.129528940C>G | CA435768980 | RHO | c.207C>G (p.Arg69=) | |
| 3 | g.129528940C>T | CA435768981 | RHO | c.207C>T (p.Arg69=) | |
| 3 | g.129528941A>C | CA354496242 | RHO | c.208A>C (p.Thr70Pro) | |
| 3 | g.129528941A>G | CA354496252 | RHO | c.208A>G (p.Thr70Ala) | |
| 3 | g.129528941A>T | CA354496261 | RHO | c.208A>T (p.Thr70Ser) | |
| 3 | g.129528942C>A | CA354496266 | RHO | c.209C>A (p.Thr70Lys) | |
| 3 | g.129528942C= | CA1401205629 | RHO | c.209C= (p.Thr70=) | |
| 3 | g.129528942C>G | CA354496269 | RHO | c.209C>G (p.Thr70Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528942C>T | CA2607087 | RHO | c.209C>T (p.Thr70Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528943G>A | CA2607088 | RHO | c.210G>A (p.Thr70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528943G>C | CA435768982 | RHO | c.210G>C (p.Thr70=) | |
| 3 | g.129528943G= | CA1401205634 | RHO | c.210G= (p.Thr70=) | |
| 3 | g.129528943G>T | CA435768983 | RHO | c.210G>T (p.Thr70=) | |
| 3 | g.129528944C>A | CA354496282 | RHO | c.211C>A (p.Pro71Thr) | |
| 3 | g.129528944C= | CA1401205639 | RHO | c.211C= (p.Pro71=) | |
| 3 | g.129528944C>G | CA354496279 | RHO | c.211C>G (p.Pro71Ala) | |
| 3 | g.129528944C>T | CA354496278 | RHO | c.211C>T (p.Pro71Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528945C>A | CA354496287 | RHO | c.212C>A (p.Pro71His) | |
| 3 | g.129528945C>G | CA354496300 | RHO | c.212C>G (p.Pro71Arg) | |
| 3 | g.129528945C>T | CA354496288 | RHO | c.212C>T (p.Pro71Leu) | |
| 3 | g.129528946T>A | CA435768987 | RHO | c.213T>A (p.Pro71=) | |
| 3 | g.129528946T>C | CA435768988 | RHO | c.213T>C (p.Pro71=) | dbSNP |
| 3 | g.129528946T>G | CA435768989 | RHO | c.213T>G (p.Pro71=) | |
| 3 | g.129528947C>A | CA354496303 | RHO | c.214C>A (p.Leu72Ile) | |
| 3 | g.129528947C>G | CA354496309 | RHO | c.214C>G (p.Leu72Val) | |
| 3 | g.129528947C>T | CA354496306 | RHO | c.214C>T (p.Leu72Phe) | gnomAD v4 |
| 3 | g.129528948T>A | CA354496313 | RHO | c.215T>A (p.Leu72His) | |
| 3 | g.129528948T>C | CA354496317 | RHO | c.215T>C (p.Leu72Pro) | |
| 3 | g.129528948T>G | CA354496319 | RHO | c.215T>G (p.Leu72Arg) | |
| 3 | g.129528948_129528951delinsTCAA | CA1401205643 | RHO | c.215_218delinsTCAA (p.Leu72=) | |
| 3 | g.129528949C>A | CA435768990 | RHO | c.216C>A (p.Leu72=) | gnomAD v4 |
| 3 | g.129528949C>G | CA435768991 | RHO | c.216C>G (p.Leu72=) | |
| 3 | g.129528949C>T | CA435768993 | RHO | c.216C>T (p.Leu72=) | gnomAD v4 |
| 3 | g.129528950_129528952del | CA266222 | RHO | c.217_219del (p.Asn73del) | ClinVar dbSNP |
| 3 | g.129528950A>C | CA354496325 | RHO | c.217A>C (p.Asn73His) | |
| 3 | g.129528950A>G | CA354496328 | RHO | c.217A>G (p.Asn73Asp) | |
| 3 | g.129528950A>T | CA354496329 | RHO | c.217A>T (p.Asn73Tyr) | |
| 3 | g.129528951A= | CA1401205668 | RHO | c.218A= (p.Asn73=) | |
| 3 | g.129528951A>C | CA354496337 | RHO | c.218A>C (p.Asn73Thr) | |
| 3 | g.129528951A>G | CA2607089 | RHO | c.218A>G (p.Asn73Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.129528951A>T | CA354496335 | RHO | c.218A>T (p.Asn73Ile) | |
| 3 | g.129528952C>A | CA2607090 | RHO | c.219C>A (p.Asn73Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528952C= | CA1401205679 | RHO | c.219C= (p.Asn73=) | |
| 3 | g.129528952C>G | CA354496344 | RHO | c.219C>G (p.Asn73Lys) | |
| 3 | g.129528952C>T | CA435768995 | RHO | c.219C>T (p.Asn73=) | |
| 3 | g.129528953T>A | CA354496356 | RHO | c.220T>A (p.Tyr74Asn) | |
| 3 | g.129528953T>C | CA2607091 | RHO | c.220T>C (p.Tyr74His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528953T>G | CA354496359 | RHO | c.220T>G (p.Tyr74Asp) | |
| 3 | g.129528953T= | CA1401205688 | RHO | c.220T= (p.Tyr74=) | |
| 3 | g.129528954A>C | CA354496364 | RHO | c.221A>C (p.Tyr74Ser) | |
| 3 | g.129528954A>G | CA354496370 | RHO | c.221A>G (p.Tyr74Cys) | gnomAD v4 |
| 3 | g.129528954A>T | CA354496368 | RHO | c.221A>T (p.Tyr74Phe) | |
| 3 | g.129528955C>A | CA354496376 | RHO | c.222C>A (p.Tyr74Ter) | |
| 3 | g.129528955C= | CA1401205696 | RHO | c.222C= (p.Tyr74=) | |
| 3 | g.129528955C>G | CA354496379 | RHO | c.222C>G (p.Tyr74Ter) | |
| 3 | g.129528955C>T | CA2607092 | RHO | c.222C>T (p.Tyr74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528956A= | CA1401205699 | RHO | c.223A= (p.Ile75=) | |
| 3 | g.129528956A>C | CA354496382 | RHO | c.223A>C (p.Ile75Leu) | |
| 3 | g.129528956A>G | CA2607093 | RHO | c.223A>G (p.Ile75Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528956A>T | CA354496385 | RHO | c.223A>T (p.Ile75Phe) | |
| 3 | g.129528957T>A | CA354496387 | RHO | c.224T>A (p.Ile75Asn) | |
| 3 | g.129528957T>C | CA354496389 | RHO | c.224T>C (p.Ile75Thr) | |
| 3 | g.129528957T>G | CA354496390 | RHO | c.224T>G (p.Ile75Ser) | |
| 3 | g.129528958C>A | CA435768996 | RHO | c.225C>A (p.Ile75=) | |
| 3 | g.129528958C>G | CA354496392 | RHO | c.225C>G (p.Ile75Met) | COSMIC |
| 3 | g.129528958C>T | CA435768997 | RHO | c.225C>T (p.Ile75=) | |
| 3 | g.129528959C>A | CA354496395 | RHO | c.226C>A (p.Leu76Met) | |
| 3 | g.129528959C>G | CA354496396 | RHO | c.226C>G (p.Leu76Val) | |
| 3 | g.129528959C>T | CA435768999 | RHO | c.226C>T (p.Leu76=) | ClinVar |
| 3 | g.129528960T>A | CA354496404 | RHO | c.227T>A (p.Leu76Gln) | |
| 3 | g.129528960T>C | CA354496400 | RHO | c.227T>C (p.Leu76Pro) | |
| 3 | g.129528960T>G | CA354496401 | RHO | c.227T>G (p.Leu76Arg) | |
| 3 | g.129528961G>A | CA435769000 | RHO | c.228G>A (p.Leu76=) | dbSNP gnomAD v4 |
| 3 | g.129528961G>C | CA435769001 | RHO | c.228G>C (p.Leu76=) | |
| 3 | g.129528961G= | CA1401205706 | RHO | c.228G= (p.Leu76=) | |
| 3 | g.129528961G>T | CA435769002 | RHO | c.228G>T (p.Leu76=) | |
| 3 | g.129528962C>A | CA354496406 | RHO | c.229C>A (p.Leu77Ile) | |
| 3 | g.129528962C= | CA1401205713 | RHO | c.229C= (p.Leu77=) | |
| 3 | g.129528962C>G | CA354496410 | RHO | c.229C>G (p.Leu77Val) | |
| 3 | g.129528962C>T | CA354496411 | RHO | c.229C>T (p.Leu77Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528963T>A | CA354496413 | RHO | c.230T>A (p.Leu77His) | |
| 3 | g.129528963T>C | CA354496415 | RHO | c.230T>C (p.Leu77Pro) | |
| 3 | g.129528963T>G | CA354496417 | RHO | c.230T>G (p.Leu77Arg) | |
| 3 | g.129528964C>A | CA435768662 | RHO | c.231C>A (p.Leu77=) | |
| 3 | g.129528964C>G | CA435768663 | RHO | c.231C>G (p.Leu77=) | |
| 3 | g.129528964C>T | CA435768664 | RHO | c.231C>T (p.Leu77=) | |
| 3 | g.129528965A= | CA1401205720 | RHO | c.232A= (p.Asn78=) | |
| 3 | g.129528965A>C | CA354496419 | RHO | c.232A>C (p.Asn78His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528965A>G | CA354496421 | RHO | c.232A>G (p.Asn78Asp) | |
| 3 | g.129528965A>T | CA354496422 | RHO | c.232A>T (p.Asn78Tyr) | ClinVar dbSNP |
| 3 | g.129528966A= | CA1401205724 | RHO | c.233A= (p.Asn78=) | |
| 3 | g.129528966A>C | CA354496424 | RHO | c.233A>C (p.Asn78Thr) | dbSNP |
| 3 | g.129528966A>G | CA354496428 | RHO | c.233A>G (p.Asn78Ser) | gnomAD v4 |
| 3 | g.129528966A>T | CA354496429 | RHO | c.233A>T (p.Asn78Ile) | ClinVar |
| 3 | g.129528966_129528967delinsAC | CA1401205722 | RHO | c.233_234delinsAC (p.Asn78=) | |
| 3 | g.129528967C>A | CA354496432 | RHO | c.234C>A (p.Asn78Lys) | |
| 3 | g.129528967C>G | CA354496433 | RHO | c.234C>G (p.Asn78Lys) | |
| 3 | g.129528967C>T | CA435768673 | RHO | c.234C>T (p.Asn78=) | gnomAD v4 |
| 3 | g.129528968del | CA546417604 | RHO | c.235del (p.Leu79Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528968C>A | CA354496437 | RHO | c.235C>A (p.Leu79Ile) | |
| 3 | g.129528968C= | CA1401205739 | RHO | c.235C= (p.Leu79=) | |
| 3 | g.129528968C>G | CA354496435 | RHO | c.235C>G (p.Leu79Val) | COSMIC |
| 3 | g.129528968C>T | CA435768675 | RHO | c.235C>T (p.Leu79=) | dbSNP gnomAD v4 |
| 3 | g.129528969T>A | CA354496442 | RHO | c.236T>A (p.Leu79Gln) | |
| 3 | g.129528969T>C | CA354496443 | RHO | c.236T>C (p.Leu79Pro) | |
| 3 | g.129528969T>G | CA354496447 | RHO | c.236T>G (p.Leu79Arg) | |
| 3 | g.129528970A>C | CA435768677 | RHO | c.237A>C (p.Leu79=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528970A>G | CA435768678 | RHO | c.237A>G (p.Leu79=) | dbSNP |
| 3 | g.129528970A>T | CA435768679 | RHO | c.237A>T (p.Leu79=) | |
| 3 | g.129528971G>A | CA354496448 | RHO | c.238G>A (p.Ala80Thr) | gnomAD v4 |
| 3 | g.129528971G>C | CA354496450 | RHO | c.238G>C (p.Ala80Pro) | |
| 3 | g.129528971G= | CA1401205744 | RHO | c.238G= (p.Ala80=) | |
| 3 | g.129528971G>T | CA354496452 | RHO | c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528972C>A | CA354496469 | RHO | c.239C>A (p.Ala80Asp) | |
| 3 | g.129528972C>G | CA354496470 | RHO | c.239C>G (p.Ala80Gly) | |
| 3 | g.129528972C>T | CA354496471 | RHO | c.239C>T (p.Ala80Val) | |
| 3 | g.129528973C>A | CA435768682 | RHO | c.240C>A (p.Ala80=) | |
| 3 | g.129528973C= | CA1401205752 | RHO | c.240C= (p.Ala80=) | |
| 3 | g.129528973C>G | CA2607094 | RHO | c.240C>G (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528973C>T | CA82646936 | RHO | c.240C>T (p.Ala80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528973_129528976delinsCGTG | CA1401205750 | RHO | c.240_243delinsCGTG (p.Ala80=) | |
| 3 | g.129528974G>A | CA2607095 | RHO | c.241G>A (p.Val81Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528974G>C | CA354496473 | RHO | c.241G>C (p.Val81Leu) | |
| 3 | g.129528974G= | CA1401205758 | RHO | c.241G= (p.Val81=) | |
| 3 | g.129528974G>T | CA354496474 | RHO | c.241G>T (p.Val81Leu) | |
| 3 | g.129528975_129528977del | CA1401205766 | RHO | c.242_244del (p.Val81del) | ClinVar dbSNP |
| 3 | g.129528975T>A | CA354496476 | RHO | c.242T>A (p.Val81Glu) | |
| 3 | g.129528975T>C | CA2607096 | RHO | c.242T>C (p.Val81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528975T>G | CA354496485 | RHO | c.242T>G (p.Val81Gly) | |
| 3 | g.129528975T= | CA1401205774 | RHO | c.242T= (p.Val81=) | |
| 3 | g.129528976G>A | CA435768688 | RHO | c.243G>A (p.Val81=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528976G>C | CA435768689 | RHO | c.243G>C (p.Val81=) | |
| 3 | g.129528976G= | CA1401205788 | RHO | c.243G= (p.Val81=) | |
| 3 | g.129528976G>T | CA435768690 | RHO | c.243G>T (p.Val81=) | |
| 3 | g.129528977G>A | CA354496487 | RHO | c.244G>A (p.Ala82Thr) | |
| 3 | g.129528977G>C | CA354496497 | RHO | c.244G>C (p.Ala82Pro) | |
| 3 | g.129528977G>T | CA354496496 | RHO | c.244G>T (p.Ala82Ser) | |
| 3 | g.129528978C>A | CA354496502 | RHO | c.245C>A (p.Ala82Asp) | |
| 3 | g.129528978C= | CA1401205793 | RHO | c.245C= (p.Ala82=) | |
| 3 | g.129528978C>G | CA354496503 | RHO | c.245C>G (p.Ala82Gly) | dbSNP |
| 3 | g.129528978C>T | CA82646946 | RHO | c.245C>T (p.Ala82Val) | dbSNP |
| 3 | g.129528979T>A | CA435768694 | RHO | c.246T>A (p.Ala82=) | |
| 3 | g.129528979T>C | CA2607097 | RHO | c.246T>C (p.Ala82=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528979T>G | CA435768696 | RHO | c.246T>G (p.Ala82=) | |
| 3 | g.129528979T= | CA1401205797 | RHO | c.246T= (p.Ala82=) | |
| 3 | g.129528980G>A | CA354496504 | RHO | c.247G>A (p.Asp83Asn) | dbSNP |
| 3 | g.129528980G>C | CA354496505 | RHO | c.247G>C (p.Asp83His) | COSMIC |
| 3 | g.129528980G= | CA1401205813 | RHO | c.247G= (p.Asp83=) | |
| 3 | g.129528980G>T | CA354496506 | RHO | c.247G>T (p.Asp83Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528981A= | CA1401205820 | RHO | c.248A= (p.Asp83=) | |
| 3 | g.129528981A>C | CA354496508 | RHO | c.248A>C (p.Asp83Ala) | |
| 3 | g.129528981A>G | CA354496516 | RHO | c.248A>G (p.Asp83Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528981A>T | CA354496518 | RHO | c.248A>T (p.Asp83Val) | |
| 3 | g.129528982C>A | CA354496521 | RHO | c.249C>A (p.Asp83Glu) | |
| 3 | g.129528982C= | CA1401205824 | RHO | c.249C= (p.Asp83=) | |
| 3 | g.129528982C>G | CA354496526 | RHO | c.249C>G (p.Asp83Glu) | |
| 3 | g.129528982C>T | CA435768701 | RHO | c.249C>T (p.Asp83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528983C>A | CA354496536 | RHO | c.250C>A (p.Leu84Ile) | |
| 3 | g.129528983C= | CA1401205827 | RHO | c.250C= (p.Leu84=) | |
| 3 | g.129528983C>G | CA2607098 | RHO | c.250C>G (p.Leu84Val) | dbSNP ExAC gnomAD v4 |
| 3 | g.129528983C>T | CA354496528 | RHO | c.250C>T (p.Leu84Phe) | |
| 3 | g.129528984T>A | CA354496539 | RHO | c.251T>A (p.Leu84His) | |
| 3 | g.129528984T>C | CA354496544 | RHO | c.251T>C (p.Leu84Pro) | ClinVar dbSNP |
| 3 | g.129528984T>G | CA354496546 | RHO | c.251T>G (p.Leu84Arg) | |
| 3 | g.129528985C>A | CA435768706 | RHO | c.252C>A (p.Leu84=) | |
| 3 | g.129528985C= | CA1401205830 | RHO | c.252C= (p.Leu84=) | |
| 3 | g.129528985C>G | CA435768707 | RHO | c.252C>G (p.Leu84=) | COSMIC |
| 3 | g.129528985C>T | CA435768708 | RHO | c.252C>T (p.Leu84=) | dbSNP gnomAD v4 |
| 3 | g.129528986T>A | CA354496549 | RHO | c.253T>A (p.Phe85Ile) | |
| 3 | g.129528986T>C | CA354496551 | RHO | c.253T>C (p.Phe85Leu) | |
| 3 | g.129528986T>G | CA354496553 | RHO | c.253T>G (p.Phe85Val) | |
| 3 | g.129528987T>A | CA354496556 | RHO | c.254T>A (p.Phe85Tyr) | |
| 3 | g.129528987T>C | CA354496557 | RHO | c.254T>C (p.Phe85Ser) | |
| 3 | g.129528987T>G | CA354496561 | RHO | c.254T>G (p.Phe85Cys) | |
| 3 | g.129528988C>A | CA354496562 | RHO | c.255C>A (p.Phe85Leu) | |
| 3 | g.129528988C>G | CA354496570 | RHO | c.255C>G (p.Phe85Leu) | |
| 3 | g.129528988C>T | CA435768712 | RHO | c.255C>T (p.Phe85=) | gnomAD v4 |
| 3 | g.129528989A>C | CA354496577 | RHO | c.256A>C (p.Met86Leu) | |
| 3 | g.129528989A>G | CA354496576 | RHO | c.256A>G (p.Met86Val) | |
| 3 | g.129528989A>T | CA354496573 | RHO | c.256A>T (p.Met86Leu) | |
| 3 | g.129528990T>A | CA354496580 | RHO | c.257T>A (p.Met86Lys) | COSMIC |
| 3 | g.129528990T>C | CA354496581 | RHO | c.257T>C (p.Met86Thr) | gnomAD v4 |
| 3 | g.129528990T>G | CA354496584 | RHO | c.257T>G (p.Met86Arg) | |
| 3 | g.129528991G>A | CA354496585 | RHO | c.258G>A (p.Met86Ile) | dbSNP |
| 3 | g.129528991G>C | CA354496586 | RHO | c.258G>C (p.Met86Ile) | |
| 3 | g.129528991G= | CA1401205834 | RHO | c.258G= (p.Met86=) | |
| 3 | g.129528991G>T | CA354496587 | RHO | c.258G>T (p.Met86Ile) | COSMIC |
| 3 | g.129528992G>A | CA354496601 | RHO | c.259G>A (p.Val87Ile) | |
| 3 | g.129528992G>C | CA354496592 | RHO | c.259G>C (p.Val87Leu) | |
| 3 | g.129528992G>T | CA354496594 | RHO | c.259G>T (p.Val87Phe) | ClinVar |
| 3 | g.129528993T>A | CA256667 | RHO | c.260T>A (p.Val87Asp) | ClinVar dbSNP |
| 3 | g.129528993T>C | CA354496603 | RHO | c.260T>C (p.Val87Ala) | dbSNP |
| 3 | g.129528993T>G | CA354496604 | RHO | c.260T>G (p.Val87Gly) | |
| 3 | g.129528993T= | CA1401205841 | RHO | c.260T= (p.Val87=) | |
| 3 | g.129528994C>A | CA435768715 | RHO | c.261C>A (p.Val87=) | gnomAD v4 |
| 3 | g.129528994C>G | CA435768716 | RHO | c.261C>G (p.Val87=) | |
| 3 | g.129528994C>T | CA435768717 | RHO | c.261C>T (p.Val87=) | |
| 3 | g.129528995C>A | CA354496607 | RHO | c.262C>A (p.Leu88Ile) | |
| 3 | g.129528995C= | CA1401205856 | RHO | c.262C= (p.Leu88=) | |
| 3 | g.129528995C>G | CA354496610 | RHO | c.262C>G (p.Leu88Val) | |
| 3 | g.129528995C>T | CA435768718 | RHO | c.262C>T (p.Leu88=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528996T>A | CA354496613 | RHO | c.263T>A (p.Leu88Gln) | |
| 3 | g.129528996T>C | CA16604468 | RHO | c.263T>C (p.Leu88Pro) | ClinVar dbSNP COSMIC |
| 3 | g.129528996T>G | CA354496616 | RHO | c.263T>G (p.Leu88Arg) | |
| 3 | g.129528996T= | CA1401205864 | RHO | c.263T= (p.Leu88=) | |
| 3 | g.129528997A>C | CA435768723 | RHO | c.264A>C (p.Leu88=) | dbSNP |
| 3 | g.129528997A>G | CA435768724 | RHO | c.264A>G (p.Leu88=) | |
| 3 | g.129528997A>T | CA435768725 | RHO | c.264A>T (p.Leu88=) | |
| 3 | g.129528998G>A | CA354496618 | RHO | c.265G>A (p.Gly89Ser) | |
| 3 | g.129528998G>C | CA354496619 | RHO | c.265G>C (p.Gly89Arg) | ClinVar dbSNP |
| 3 | g.129528998G= | CA1401205877 | RHO | c.265G= (p.Gly89=) | |
| 3 | g.129528998G>T | CA354496621 | RHO | c.265G>T (p.Gly89Cys) | COSMIC |
| 3 | g.129528999G>A | CA256668 | RHO | c.266G>A (p.Gly89Asp) | ClinVar dbSNP |
| 3 | g.129528999G>C | CA354496625 | RHO | c.266G>C (p.Gly89Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528999G= | CA1401205899 | RHO | c.266G= (p.Gly89=) | |
| 3 | g.129528999G>T | CA354496627 | RHO | c.266G>T (p.Gly89Val) | |
| 3 | g.129529000T>A | CA435768728 | RHO | c.267T>A (p.Gly89=) | dbSNP |
| 3 | g.129529000T>C | CA2607099 | RHO | c.267T>C (p.Gly89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529000T>G | CA435768729 | RHO | c.267T>G (p.Gly89=) | |
| 3 | g.129529000T= | CA1401205904 | RHO | c.267T= (p.Gly89=) | |
| 3 | g.129529001G>A | CA354496632 | RHO | c.268G>A (p.Gly90Ser) | |
| 3 | g.129529001G>C | CA354496633 | RHO | c.268G>C (p.Gly90Arg) | dbSNP |
| 3 | g.129529001G>T | CA354496636 | RHO | c.268G>T (p.Gly90Cys) | |
| 3 | g.129529002del | CA2667615395 | RHO | c.269del (p.Gly90AlafsTer?) | gnomAD v4 |
| 3 | g.129529002G>A | CA122823 | RHO | c.269G>A (p.Gly90Asp) | ClinVar dbSNP |
| 3 | g.129529002G>C | CA354496640 | RHO | c.269G>C (p.Gly90Ala) | |
| 3 | g.129529002G= | CA1401205916 | RHO | c.269G= (p.Gly90=) | |
| 3 | g.129529002G>T | CA354496638 | RHO | c.269G>T (p.Gly90Val) | gnomAD v4 |