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.129528861A= | CA1401205384 | RHO | c.128A= (p.Tyr43=) | |
| 3 | g.129528861A>C | CA354495848 | RHO | c.128A>C (p.Tyr43Ser) | |
| 3 | g.129528861A>G | CA2607066 | RHO | c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528861A>T | CA354495851 | RHO | c.128A>T (p.Tyr43Phe) | |
| 3 | g.129528862C>A | CA354495854 | RHO | c.129C>A (p.Tyr43Ter) | |
| 3 | g.129528862C>G | CA354495860 | RHO | c.129C>G (p.Tyr43Ter) | |
| 3 | g.129528862C>T | CA435768907 | RHO | c.129C>T (p.Tyr43=) | gnomAD v4 |
| 3 | g.129528863A= | CA1401205391 | RHO | c.130A= (p.Met44=) | |
| 3 | g.129528863A>C | CA354495864 | RHO | c.130A>C (p.Met44Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528863A>G | CA354495868 | RHO | c.130A>G (p.Met44Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528863A>T | CA354495866 | RHO | c.130A>T (p.Met44Leu) | |
| 3 | g.129528864T>A | CA354495871 | RHO | c.131T>A (p.Met44Lys) | |
| 3 | g.129528864T>C | CA2607067 | RHO | c.131T>C (p.Met44Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528864T>G | CA354495873 | RHO | c.131T>G (p.Met44Arg) | |
| 3 | g.129528864T= | CA1401205396 | RHO | c.131T= (p.Met44=) | |
| 3 | g.129528865G>A | CA354495876 | RHO | c.132G>A (p.Met44Ile) | gnomAD v4 |
| 3 | g.129528865G>C | CA354495878 | RHO | c.132G>C (p.Met44Ile) | |
| 3 | g.129528865G= | CA1401205400 | RHO | c.132G= (p.Met44=) | |
| 3 | g.129528865G>T | CA354495880 | RHO | c.132G>T (p.Met44Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528866T>A | CA354495882 | RHO | c.133T>A (p.Phe45Ile) | |
| 3 | g.129528866T>C | CA256666 | RHO | c.133T>C (p.Phe45Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528866T>G | CA354495884 | RHO | c.133T>G (p.Phe45Val) | |
| 3 | g.129528866T= | CA1401205403 | RHO | c.133T= (p.Phe45=) | |
| 3 | g.129528867T>A | CA354495886 | RHO | c.134T>A (p.Phe45Tyr) | |
| 3 | g.129528867T>C | CA354495888 | RHO | c.134T>C (p.Phe45Ser) | |
| 3 | g.129528867T>G | CA354495889 | RHO | c.134T>G (p.Phe45Cys) | |
| 3 | g.129528868T>A | CA354495891 | RHO | c.135T>A (p.Phe45Leu) | |
| 3 | g.129528868T>C | CA435768908 | RHO | c.135T>C (p.Phe45=) | dbSNP |
| 3 | g.129528868T>G | CA354495894 | RHO | c.135T>G (p.Phe45Leu) | |
| 3 | g.129528869C>A | CA354495899 | RHO | c.136C>A (p.Leu46Met) | |
| 3 | g.129528869C>G | CA354495902 | RHO | c.136C>G (p.Leu46Val) | |
| 3 | g.129528869C>T | CA435768909 | RHO | c.136C>T (p.Leu46=) | |
| 3 | g.129528870T>A | CA354495903 | RHO | c.137T>A (p.Leu46Gln) | |
| 3 | g.129528870T>C | CA354495904 | RHO | c.137T>C (p.Leu46Pro) | |
| 3 | g.129528870T>G | CA354495905 | RHO | c.137T>G (p.Leu46Arg) | ClinVar dbSNP |
| 3 | g.129528870T= | CA1401205410 | RHO | c.137T= (p.Leu46=) | |
| 3 | g.129528871G>A | CA435768910 | RHO | c.138G>A (p.Leu46=) | gnomAD v4 |
| 3 | g.129528871G>C | CA435768911 | RHO | c.138G>C (p.Leu46=) | |
| 3 | g.129528871G>T | CA435768912 | RHO | c.138G>T (p.Leu46=) | |
| 3 | g.129528872C>A | CA354495906 | RHO | c.139C>A (p.Leu47Met) | |
| 3 | g.129528872C= | CA1401205415 | RHO | c.139C= (p.Leu47=) | |
| 3 | g.129528872C>G | CA354495907 | RHO | c.139C>G (p.Leu47Val) | |
| 3 | g.129528872C>T | CA435768914 | RHO | c.139C>T (p.Leu47=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528873T>A | CA354495908 | RHO | c.140T>A (p.Leu47Gln) | |
| 3 | g.129528873T>C | CA354495909 | RHO | c.140T>C (p.Leu47Pro) | |
| 3 | g.129528873T>G | CA354495910 | RHO | c.140T>G (p.Leu47Arg) | |
| 3 | g.129528874G>A | CA435768915 | RHO | c.141G>A (p.Leu47=) | |
| 3 | g.129528874G>C | CA435768916 | RHO | c.141G>C (p.Leu47=) | dbSNP |
| 3 | g.129528874G>T | CA435768917 | RHO | c.141G>T (p.Leu47=) | |
| 3 | g.129528875A>C | CA354495911 | RHO | c.142A>C (p.Ile48Leu) | |
| 3 | g.129528875A>G | CA354495913 | RHO | c.142A>G (p.Ile48Val) | |
| 3 | g.129528875A>T | CA354495914 | RHO | c.142A>T (p.Ile48Phe) | |
| 3 | g.129528876T>A | CA354495915 | RHO | c.143T>A (p.Ile48Asn) | |
| 3 | g.129528876T>C | CA354495918 | RHO | c.143T>C (p.Ile48Thr) | COSMIC |
| 3 | g.129528876T>G | CA354495916 | RHO | c.143T>G (p.Ile48Ser) | |
| 3 | g.129528877C>A | CA435768919 | RHO | c.144C>A (p.Ile48=) | gnomAD v4 |
| 3 | g.129528877C= | CA1401205420 | RHO | c.144C= (p.Ile48=) | |
| 3 | g.129528877C>G | CA354495921 | RHO | c.144C>G (p.Ile48Met) | gnomAD v4 |
| 3 | g.129528877C>T | CA2607068 | RHO | c.144C>T (p.Ile48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528878G>A | CA2607069 | RHO | c.145G>A (p.Val49Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528878G>C | CA354495924 | RHO | c.145G>C (p.Val49Leu) | |
| 3 | g.129528878G= | CA1401205426 | RHO | c.145G= (p.Val49=) | |
| 3 | g.129528878G>T | CA354495926 | RHO | c.145G>T (p.Val49Leu) | |
| 3 | g.129528879T>A | CA354495928 | RHO | c.146T>A (p.Val49Glu) | |
| 3 | g.129528879T>C | CA354495929 | RHO | c.146T>C (p.Val49Ala) | |
| 3 | g.129528879T>G | CA354495931 | RHO | c.146T>G (p.Val49Gly) | |
| 3 | g.129528880G>A | CA435768922 | RHO | c.147G>A (p.Val49=) | |
| 3 | g.129528880G>C | CA435768923 | RHO | c.147G>C (p.Val49=) | |
| 3 | g.129528880G>T | CA435768924 | RHO | c.147G>T (p.Val49=) | |
| 3 | g.129528881C>A | CA354495932 | RHO | c.148C>A (p.Leu50Met) | |
| 3 | g.129528881C>G | CA354495933 | RHO | c.148C>G (p.Leu50Val) | |
| 3 | g.129528881C>T | CA435768925 | RHO | c.148C>T (p.Leu50=) | gnomAD v4 |
| 3 | g.129528882T>A | CA354495935 | RHO | c.149T>A (p.Leu50Gln) | |
| 3 | g.129528882T>C | CA354495937 | RHO | c.149T>C (p.Leu50Pro) | dbSNP |
| 3 | g.129528882T>G | CA354495941 | RHO | c.149T>G (p.Leu50Arg) | |
| 3 | g.129528882T= | CA1401205436 | RHO | c.149T= (p.Leu50=) | |
| 3 | g.129528883G>A | CA435768927 | RHO | c.150G>A (p.Leu50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528883G>C | CA435768928 | RHO | c.150G>C (p.Leu50=) | |
| 3 | g.129528883G= | CA1401205443 | RHO | c.150G= (p.Leu50=) | |
| 3 | g.129528883G>T | CA435768929 | RHO | c.150G>T (p.Leu50=) | |
| 3 | g.129528884G>A | CA354495942 | RHO | c.151G>A (p.Gly51Ser) | |
| 3 | g.129528884G>C | CA256687 | RHO | c.151G>C (p.Gly51Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528884G= | CA1401205449 | RHO | c.151G= (p.Gly51=) | |
| 3 | g.129528884G>T | CA354495943 | RHO | c.151G>T (p.Gly51Cys) | dbSNP |
| 3 | g.129528885G>A | CA354495946 | RHO | c.152G>A (p.Gly51Asp) | |
| 3 | g.129528885G>C | CA2607070 | RHO | c.152G>C (p.Gly51Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528885G= | CA1401205458 | RHO | c.152G= (p.Gly51=) | |
| 3 | g.129528885G>T | CA354495947 | RHO | c.152G>T (p.Gly51Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528886C>A | CA435768930 | RHO | c.153C>A (p.Gly51=) | |
| 3 | g.129528886C>G | CA435768931 | RHO | c.153C>G (p.Gly51=) | |
| 3 | g.129528886C>T | CA435768932 | RHO | c.153C>T (p.Gly51=) | gnomAD v4 |
| 3 | g.129528887T>A | CA354495948 | RHO | c.154T>A (p.Phe52Ile) | |
| 3 | g.129528887T>C | CA82646800 | RHO | c.154T>C (p.Phe52Leu) | dbSNP |
| 3 | g.129528887T>G | CA354495950 | RHO | c.154T>G (p.Phe52Val) | |
| 3 | g.129528887T= | CA1401205473 | RHO | c.154T= (p.Phe52=) | |
| 3 | g.129528888T>A | CA354495952 | RHO | c.155T>A (p.Phe52Tyr) | gnomAD v4 |
| 3 | g.129528888T>C | CA354495954 | RHO | c.155T>C (p.Phe52Ser) | |
| 3 | g.129528888T>G | CA354495955 | RHO | c.155T>G (p.Phe52Cys) | |
| 3 | g.129528889C>A | CA354495958 | RHO | c.156C>A (p.Phe52Leu) | |
| 3 | g.129528889C>G | CA354495960 | RHO | c.156C>G (p.Phe52Leu) | |
| 3 | g.129528889C>T | CA435768935 | RHO | c.156C>T (p.Phe52=) | |
| 3 | g.129528890C>A | CA354495964 | RHO | c.157C>A (p.Pro53Thr) | |
| 3 | g.129528890C>G | CA354495966 | RHO | c.157C>G (p.Pro53Ala) | |
| 3 | g.129528890C>T | CA354495963 | RHO | c.157C>T (p.Pro53Ser) | |
| 3 | g.129528891C>A | CA354495970 | RHO | c.158C>A (p.Pro53His) | |
| 3 | g.129528891C= | CA1401205481 | RHO | c.158C= (p.Pro53=) | |
| 3 | g.129528891C>G | CA256682 | RHO | c.158C>G (p.Pro53Arg) | ClinVar dbSNP |
| 3 | g.129528891C>T | CA354495973 | RHO | c.158C>T (p.Pro53Leu) | gnomAD v4 |
| 3 | g.129528892C>A | CA435768936 | RHO | c.159C>A (p.Pro53=) | |
| 3 | g.129528892C>G | CA435768937 | RHO | c.159C>G (p.Pro53=) | |
| 3 | g.129528892C>T | CA435768938 | RHO | c.159C>T (p.Pro53=) | |
| 3 | g.129528893A= | CA1401205486 | RHO | c.160A= (p.Ile54=) | |
| 3 | g.129528893A>C | CA354495975 | RHO | c.160A>C (p.Ile54Leu) | |
| 3 | g.129528893A>G | CA2607071 | RHO | c.160A>G (p.Ile54Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528893A>T | CA354495978 | RHO | c.160A>T (p.Ile54Phe) | |
| 3 | g.129528894T>A | CA354495980 | RHO | c.161T>A (p.Ile54Asn) | |
| 3 | g.129528894T>C | CA354495983 | RHO | c.161T>C (p.Ile54Thr) | |
| 3 | g.129528894T>G | CA354495985 | RHO | c.161T>G (p.Ile54Ser) | |
| 3 | g.129528894_129528895insA | CA2569537985 | RHO | c.161_162insA (p.Asn55GlnfsTer29) | |
| 3 | g.129528895C>A | CA435768940 | RHO | c.162C>A (p.Ile54=) | |
| 3 | g.129528895C>G | CA354495986 | RHO | c.162C>G (p.Ile54Met) | |
| 3 | g.129528895C>T | CA435768941 | RHO | c.162C>T (p.Ile54=) | |
| 3 | g.129528896A>C | CA354495987 | RHO | c.163A>C (p.Asn55His) | |
| 3 | g.129528896A>G | CA354495988 | RHO | c.163A>G (p.Asn55Asp) | gnomAD v4 |
| 3 | g.129528896A>T | CA354495989 | RHO | c.163A>T (p.Asn55Tyr) | |
| 3 | g.129528897A>C | CA354495991 | RHO | c.164A>C (p.Asn55Thr) | |
| 3 | g.129528897A>G | CA354495992 | RHO | c.164A>G (p.Asn55Ser) | gnomAD v4 |
| 3 | g.129528897A>T | CA354495998 | RHO | c.164A>T (p.Asn55Ile) | |
| 3 | g.129528898C>A | CA354495999 | RHO | c.165C>A (p.Asn55Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528898C= | CA1401205490 | RHO | c.165C= (p.Asn55=) | |
| 3 | g.129528898C>G | CA354496002 | RHO | c.165C>G (p.Asn55Lys) | ClinVar dbSNP |
| 3 | g.129528898C>T | CA435768943 | RHO | c.165C>T (p.Asn55=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528899T>A | CA354496005 | RHO | c.166T>A (p.Phe56Ile) | |
| 3 | g.129528899T>C | CA354496006 | RHO | c.166T>C (p.Phe56Leu) | |
| 3 | g.129528899T>G | CA354496008 | RHO | c.166T>G (p.Phe56Val) | |
| 3 | g.129528900T>A | CA354496010 | RHO | c.167T>A (p.Phe56Tyr) | |
| 3 | g.129528900T>C | CA354496016 | RHO | c.167T>C (p.Phe56Ser) | |
| 3 | g.129528900T>G | CA354496019 | RHO | c.167T>G (p.Phe56Cys) | |
| 3 | g.129528901C>A | CA354496023 | RHO | c.168C>A (p.Phe56Leu) | |
| 3 | g.129528901C>G | CA354496025 | RHO | c.168C>G (p.Phe56Leu) | |
| 3 | g.129528901C>T | CA435768945 | RHO | c.168C>T (p.Phe56=) | |
| 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=) |