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.129530885C>A | CA354497886 | RHO | c.371C>A (p.Ala124Asp) | |
| 3 | g.129530885C= | CA1401209206 | RHO | c.371C= (p.Ala124=) | |
| 3 | g.129530885C>G | CA354497888 | RHO | c.371C>G (p.Ala124Gly) | |
| 3 | g.129530885C>T | CA82648458 | RHO | c.371C>T (p.Ala124Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530886C>A | CA435643716 | RHO | c.372C>A (p.Ala124=) | |
| 3 | g.129530886C= | CA1401209209 | RHO | c.372C= (p.Ala124=) | |
| 3 | g.129530886C>G | CA435643717 | RHO | c.372C>G (p.Ala124=) | |
| 3 | g.129530886C>T | CA435643718 | RHO | c.372C>T (p.Ala124=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530887C>A | CA354497889 | RHO | c.373C>A (p.Leu125Met) | |
| 3 | g.129530887C>G | CA354497891 | RHO | c.373C>G (p.Leu125Val) | |
| 3 | g.129530887C>T | CA435643719 | RHO | c.373C>T (p.Leu125=) | |
| 3 | g.129530888T>A | CA354497893 | RHO | c.374T>A (p.Leu125Gln) | |
| 3 | g.129530888T>C | CA354497896 | RHO | c.374T>C (p.Leu125Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530888T>G | CA354497898 | RHO | c.374T>G (p.Leu125Arg) | ClinVar |
| 3 | g.129530888T= | CA1401209212 | RHO | c.374T= (p.Leu125=) | |
| 3 | g.129530889G>A | CA435643720 | RHO | c.375G>A (p.Leu125=) | |
| 3 | g.129530889G>C | CA435643721 | RHO | c.375G>C (p.Leu125=) | |
| 3 | g.129530889G>T | CA435643722 | RHO | c.375G>T (p.Leu125=) | |
| 3 | g.129530897_129530906del | CA2577961749 | RHO | c.383_392del (p.Leu128TrpfsTer13) | gnomAD v4 |
| 3 | g.129530890T>A | CA354497901 | RHO | c.376T>A (p.Trp126Arg) | |
| 3 | g.129530890T>C | CA354497907 | RHO | c.376T>C (p.Trp126Arg) | |
| 3 | g.129530890T>G | CA354497916 | RHO | c.376T>G (p.Trp126Gly) | |
| 3 | g.129530891G>A | CA354497918 | RHO | c.377G>A (p.Trp126Ter) | |
| 3 | g.129530891G>C | CA354497920 | RHO | c.377G>C (p.Trp126Ser) | |
| 3 | g.129530891G>T | CA354497921 | RHO | c.377G>T (p.Trp126Leu) | |
| 3 | g.129530892G>A | CA354497924 | RHO | c.378G>A (p.Trp126Ter) | |
| 3 | g.129530892G>C | CA354497925 | RHO | c.378G>C (p.Trp126Cys) | |
| 3 | g.129530892G>T | CA354497927 | RHO | c.378G>T (p.Trp126Cys) | |
| 3 | g.129530893T>A | CA354497932 | RHO | c.379T>A (p.Ser127Thr) | |
| 3 | g.129530893T>C | CA354497930 | RHO | c.379T>C (p.Ser127Pro) | |
| 3 | g.129530893T>G | CA354497928 | RHO | c.379T>G (p.Ser127Ala) | |
| 3 | g.129530894C>A | CA354497935 | RHO | c.380C>A (p.Ser127Tyr) | ClinVar |
| 3 | g.129530894C>G | CA354497936 | RHO | c.380C>G (p.Ser127Cys) | |
| 3 | g.129530894C>T | CA354497937 | RHO | c.380C>T (p.Ser127Phe) | ClinVar dbSNP |
| 3 | g.129530894_129530896delinsCCT | CA1401209216 | RHO | c.380_382delinsCCT (p.Ser127=) | |
| 3 | g.129530895C>A | CA435643723 | RHO | c.381C>A (p.Ser127=) | |
| 3 | g.129530895C= | CA1401209225 | RHO | c.381C= (p.Ser127=) | |
| 3 | g.129530895C>G | CA2607148 | RHO | c.381C>G (p.Ser127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530895C>T | CA2607149 | RHO | c.381C>T (p.Ser127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530895_129530896del | CA2607147 | RHO | c.381_382del (p.Leu128GlyfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530896T>A | CA354497941 | RHO | c.382T>A (p.Leu128Met) | |
| 3 | g.129530896T>C | CA435643726 | RHO | c.382T>C (p.Leu128=) | |
| 3 | g.129530896T>G | CA354497944 | RHO | c.382T>G (p.Leu128Val) | |
| 3 | g.129530896_129530899delinsTTGG | CA1401209234 | RHO | c.382_385delinsTTGG (p.Leu128=) | |
| 3 | g.129530897T>A | CA354497945 | RHO | c.383T>A (p.Leu128Ter) | |
| 3 | g.129530897T>C | CA354497948 | RHO | c.383T>C (p.Leu128Ser) | |
| 3 | g.129530897T>G | CA354497950 | RHO | c.383T>G (p.Leu128Trp) | |
| 3 | g.129530901_129530903del | CA1401209238 | RHO | c.387_389del (p.Val130del) | dbSNP |
| 3 | g.129530898G>A | CA435643729 | RHO | c.384G>A (p.Leu128=) | |
| 3 | g.129530898G>C | CA354497954 | RHO | c.384G>C (p.Leu128Phe) | |
| 3 | g.129530898G>T | CA354497957 | RHO | c.384G>T (p.Leu128Phe) | |
| 3 | g.129530899G>A | CA354497965 | RHO | c.385G>A (p.Val129Met) | |
| 3 | g.129530899G>C | CA354497967 | RHO | c.385G>C (p.Val129Leu) | |
| 3 | g.129530899G>T | CA354497963 | RHO | c.385G>T (p.Val129Leu) | |
| 3 | g.129530900T>A | CA354497971 | RHO | c.386T>A (p.Val129Glu) | |
| 3 | g.129530900T>C | CA354497972 | RHO | c.386T>C (p.Val129Ala) | |
| 3 | g.129530900T>G | CA354497974 | RHO | c.386T>G (p.Val129Gly) | |
| 3 | g.129530901G>A | CA435643734 | RHO | c.387G>A (p.Val129=) | |
| 3 | g.129530901G>C | CA435643735 | RHO | c.387G>C (p.Val129=) | |
| 3 | g.129530901G>T | CA435643736 | RHO | c.387G>T (p.Val129=) | |
| 3 | g.129530902G>A | CA354497976 | RHO | c.388G>A (p.Val130Ile) | |
| 3 | g.129530902G>C | CA354497979 | RHO | c.388G>C (p.Val130Leu) | |
| 3 | g.129530902G>T | CA354497981 | RHO | c.388G>T (p.Val130Phe) | |
| 3 | g.129530903T>A | CA354497983 | RHO | c.389T>A (p.Val130Asp) | |
| 3 | g.129530903T>C | CA354497984 | RHO | c.389T>C (p.Val130Ala) | |
| 3 | g.129530903T>G | CA354497985 | RHO | c.389T>G (p.Val130Gly) | |
| 3 | g.129530904C>A | CA435643742 | RHO | c.390C>A (p.Val130=) | |
| 3 | g.129530904C= | CA1401209242 | RHO | c.390C= (p.Val130=) | |
| 3 | g.129530904C>G | CA435643743 | RHO | c.390C>G (p.Val130=) | |
| 3 | g.129530904C>T | CA435643744 | RHO | c.390C>T (p.Val130=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530905C>A | CA354497988 | RHO | c.391C>A (p.Leu131Met) | |
| 3 | g.129530905C>G | CA354497992 | RHO | c.391C>G (p.Leu131Val) | |
| 3 | g.129530905C>T | CA435643745 | RHO | c.391C>T (p.Leu131=) | |
| 3 | g.129530906T>A | CA354498000 | RHO | c.392T>A (p.Leu131Gln) | |
| 3 | g.129530906T>C | CA354497998 | RHO | c.392T>C (p.Leu131Pro) | ClinVar dbSNP |
| 3 | g.129530906T>G | CA354497996 | RHO | c.392T>G (p.Leu131Arg) | ClinVar |
| 3 | g.129530906T= | CA1401209247 | RHO | c.392T= (p.Leu131=) | |
| 3 | g.129530907G>A | CA435643746 | RHO | c.393G>A (p.Leu131=) | |
| 3 | g.129530907G>C | CA435643753 | RHO | c.393G>C (p.Leu131=) | |
| 3 | g.129530907G>T | CA435643754 | RHO | c.393G>T (p.Leu131=) | |
| 3 | g.129530908G>A | CA354498002 | RHO | c.394G>A (p.Ala132Thr) | dbSNP |
| 3 | g.129530908G>C | CA354498004 | RHO | c.394G>C (p.Ala132Pro) | |
| 3 | g.129530908G= | CA1401209252 | RHO | c.394G= (p.Ala132=) | |
| 3 | g.129530908G>T | CA354498005 | RHO | c.394G>T (p.Ala132Ser) | COSMIC |
| 3 | g.129530909C>A | CA354498008 | RHO | c.395C>A (p.Ala132Asp) | |
| 3 | g.129530909C>G | CA354498010 | RHO | c.395C>G (p.Ala132Gly) | |
| 3 | g.129530909C>T | CA354498012 | RHO | c.395C>T (p.Ala132Val) | |
| 3 | g.129530910C>A | CA82648498 | RHO | c.396C>A (p.Ala132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530910C= | CA1401209255 | RHO | c.396C= (p.Ala132=) | |
| 3 | g.129530910C>G | CA435643757 | RHO | c.396C>G (p.Ala132=) | |
| 3 | g.129530910C>T | CA435643758 | RHO | c.396C>T (p.Ala132=) | |
| 3 | g.129530911A>C | CA354498015 | RHO | c.397A>C (p.Ile133Leu) | |
| 3 | g.129530911A>G | CA354498019 | RHO | c.397A>G (p.Ile133Val) | gnomAD v4 |
| 3 | g.129530911A>T | CA354498020 | RHO | c.397A>T (p.Ile133Phe) | |
| 3 | g.129530912T>A | CA354498022 | RHO | c.398T>A (p.Ile133Asn) | |
| 3 | g.129530912T>C | CA354498023 | RHO | c.398T>C (p.Ile133Thr) | |
| 3 | g.129530912T>G | CA354498025 | RHO | c.398T>G (p.Ile133Ser) | |
| 3 | g.129530913C>A | CA2607150 | RHO | c.399C>A (p.Ile133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530913C= | CA1401209265 | RHO | c.399C= (p.Ile133=) | |
| 3 | g.129530913C>G | CA354498028 | RHO | c.399C>G (p.Ile133Met) | |
| 3 | g.129530913C>T | CA435643769 | RHO | c.399C>T (p.Ile133=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.129530914G>A | CA2607151 | RHO | c.400G>A (p.Glu134Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530914G>C | CA354498035 | RHO | c.400G>C (p.Glu134Gln) | |
| 3 | g.129530914G= | CA1401209274 | RHO | c.400G= (p.Glu134=) | |
| 3 | g.129530914G>T | CA354498033 | RHO | c.400G>T (p.Glu134Ter) | |
| 3 | g.129530915A>C | CA354498037 | RHO | c.401A>C (p.Glu134Ala) | |
| 3 | g.129530915A>G | CA354498043 | RHO | c.401A>G (p.Glu134Gly) | |
| 3 | g.129530915A>T | CA354498046 | RHO | c.401A>T (p.Glu134Val) | |
| 3 | g.129530916G>A | CA435643776 | RHO | c.402G>A (p.Glu134=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530916G>C | CA354498050 | RHO | c.402G>C (p.Glu134Asp) | |
| 3 | g.129530916G>T | CA354498052 | RHO | c.402G>T (p.Glu134Asp) | |
| 3 | g.129530917C>A | CA435643780 | RHO | c.403C>A (p.Arg135=) | gnomAD v4 |
| 3 | g.129530917C= | CA1401209282 | RHO | c.403C= (p.Arg135=) | |
| 3 | g.129530917C>G | CA354498053 | RHO | c.403C>G (p.Arg135Gly) | ClinVar dbSNP |
| 3 | g.129530917C>T | CA122819 | RHO | c.403C>T (p.Arg135Trp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530917_129530919delinsTAC | CA2579758053 | RHO | c.403_405delinsTAC (p.Arg135Tyr) | |
| 3 | g.129530918G>A | CA2607152 | RHO | c.404G>A (p.Arg135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530918G>C | CA354498057 | RHO | c.404G>C (p.Arg135Pro) | ClinVar dbSNP |
| 3 | g.129530918G= | CA1401209302 | RHO | c.404G= (p.Arg135=) | |
| 3 | g.129530918G>T | CA256671 | RHO | c.404G>T (p.Arg135Leu) | ClinVar dbSNP |
| 3 | g.129530918_129530919delinsGG | CA1401209296 | RHO | c.404_405delinsGG (p.Arg135=) | |
| 3 | g.129530918_129530919delinsTT | CA10602881 | RHO | c.404_405delinsTT (p.Arg135Leu) | ClinVar dbSNP |
| 3 | g.129530919G>A | CA435643786 | RHO | c.405G>A (p.Arg135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530919G>C | CA435643788 | RHO | c.405G>C (p.Arg135=) | |
| 3 | g.129530919G= | CA1401209310 | RHO | c.405G= (p.Arg135=) | |
| 3 | g.129530919G>T | CA16604469 | RHO | c.405G>T (p.Arg135=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530920T>A | CA354498065 | RHO | c.406T>A (p.Tyr136Asn) | |
| 3 | g.129530920T>C | CA354498064 | RHO | c.406T>C (p.Tyr136His) | ClinVar dbSNP |
| 3 | g.129530920T>G | CA354498063 | RHO | c.406T>G (p.Tyr136Asp) | |
| 3 | g.129530920T= | CA1401209319 | RHO | c.406T= (p.Tyr136=) | |
| 3 | g.129530921A>C | CA354498067 | RHO | c.407A>C (p.Tyr136Ser) | |
| 3 | g.129530921A>G | CA354498069 | RHO | c.407A>G (p.Tyr136Cys) | |
| 3 | g.129530921A>T | CA354498072 | RHO | c.407A>T (p.Tyr136Phe) | |
| 3 | g.129530922C>A | CA82648518 | RHO | c.408C>A (p.Tyr136Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530922C= | CA1401209328 | RHO | c.408C= (p.Tyr136=) | |
| 3 | g.129530922C>G | CA354498074 | RHO | c.408C>G (p.Tyr136Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530922C>T | CA2607153 | RHO | c.408C>T (p.Tyr136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530923_129530940del | CA2579758042 | RHO | c.409_426del (p.Val137_Pro142del) | |
| 3 | g.129530923G>A | CA2607154 | RHO | c.409G>A (p.Val137Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530923G>C | CA354498078 | RHO | c.409G>C (p.Val137Leu) | |
| 3 | g.129530923G= | CA1401209339 | RHO | c.409G= (p.Val137=) | |
| 3 | g.129530923G>T | CA354498080 | RHO | c.409G>T (p.Val137Leu) | |
| 3 | g.129530924T>A | CA354498081 | RHO | c.410T>A (p.Val137Glu) | |
| 3 | g.129530924T>C | CA354498084 | RHO | c.410T>C (p.Val137Ala) | |
| 3 | g.129530924T>G | CA354498086 | RHO | c.410T>G (p.Val137Gly) | |
| 3 | g.129530925G>A | CA435643810 | RHO | c.411G>A (p.Val137=) | |
| 3 | g.129530925G>C | CA435643812 | RHO | c.411G>C (p.Val137=) | |
| 3 | g.129530925G>T | CA435643814 | RHO | c.411G>T (p.Val137=) | |
| 3 | g.129530926G>A | CA354498093 | RHO | c.412G>A (p.Val138Met) | |
| 3 | g.129530926G>C | CA354498090 | RHO | c.412G>C (p.Val138Leu) | |
| 3 | g.129530926G>T | CA354498088 | RHO | c.412G>T (p.Val138Leu) | |
| 3 | g.129530927T>A | CA354498097 | RHO | c.413T>A (p.Val138Glu) | |
| 3 | g.129530927T>C | CA354498099 | RHO | c.413T>C (p.Val138Ala) | gnomAD v4 |
| 3 | g.129530927T>G | CA354498101 | RHO | c.413T>G (p.Val138Gly) | |
| 3 | g.129530928G>A | CA435643826 | RHO | c.414G>A (p.Val138=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530928G>C | CA435643828 | RHO | c.414G>C (p.Val138=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530928G= | CA1401209342 | RHO | c.414G= (p.Val138=) | |
| 3 | g.129530928G>T | CA435643829 | RHO | c.414G>T (p.Val138=) | |
| 3 | g.129530929G>A | CA354498103 | RHO | c.415G>A (p.Val139Met) | |
| 3 | g.129530929G>C | CA354498105 | RHO | c.415G>C (p.Val139Leu) | |
| 3 | g.129530929G>T | CA354498108 | RHO | c.415G>T (p.Val139Leu) | |
| 3 | g.129530930T>A | CA354498111 | RHO | c.416T>A (p.Val139Glu) | |
| 3 | g.129530930T>C | CA354498114 | RHO | c.416T>C (p.Val139Ala) | |
| 3 | g.129530930T>G | CA354498116 | RHO | c.416T>G (p.Val139Gly) | |
| 3 | g.129530931G>A | CA435643836 | RHO | c.417G>A (p.Val139=) | dbSNP gnomAD v4 |
| 3 | g.129530931G>C | CA435643837 | RHO | c.417G>C (p.Val139=) | gnomAD v4 |
| 3 | g.129530931G= | CA1401209347 | RHO | c.417G= (p.Val139=) | |
| 3 | g.129530931G>T | CA435643840 | RHO | c.417G>T (p.Val139=) | |
| 3 | g.129530932T>A | CA354498118 | RHO | c.418T>A (p.Cys140Ser) | |
| 3 | g.129530932T>C | CA354498123 | RHO | c.418T>C (p.Cys140Arg) | |
| 3 | g.129530932T>G | CA354498125 | RHO | c.418T>G (p.Cys140Gly) | |
| 3 | g.129530933G>A | CA354498132 | RHO | c.419G>A (p.Cys140Tyr) | |
| 3 | g.129530933G>C | CA354498130 | RHO | c.419G>C (p.Cys140Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530933G= | CA1401209351 | RHO | c.419G= (p.Cys140=) | |
| 3 | g.129530933G>T | CA354498128 | RHO | c.419G>T (p.Cys140Phe) | |
| 3 | g.129530934T>A | CA354498133 | RHO | c.420T>A (p.Cys140Ter) | |
| 3 | g.129530934T>C | CA435643849 | RHO | c.420T>C (p.Cys140=) | |
| 3 | g.129530934T>G | CA354498135 | RHO | c.420T>G (p.Cys140Trp) | |
| 3 | g.129530935A>C | CA354498137 | RHO | c.421A>C (p.Lys141Gln) | |
| 3 | g.129530935A>G | CA354498140 | RHO | c.421A>G (p.Lys141Glu) | |
| 3 | g.129530935A>T | CA354498142 | RHO | c.421A>T (p.Lys141Ter) | |
| 3 | g.129530935_129530938dup | CA2667616150 | RHO | c.421_424dup (p.Pro142GlnfsTer?) | gnomAD v4 |
| 3 | g.129530936A>C | CA354498144 | RHO | c.422A>C (p.Lys141Thr) | |
| 3 | g.129530936A>G | CA354498146 | RHO | c.422A>G (p.Lys141Arg) | |
| 3 | g.129530936A>T | CA354498150 | RHO | c.422A>T (p.Lys141Met) | |
| 3 | g.129530937G>A | CA435643858 | RHO | c.423G>A (p.Lys141=) | COSMIC |
| 3 | g.129530937G>C | CA354498152 | RHO | c.423G>C (p.Lys141Asn) | |
| 3 | g.129530937G>T | CA354498159 | RHO | c.423G>T (p.Lys141Asn) | |
| 3 | g.129530938C>A | CA354498163 | RHO | c.424C>A (p.Pro142Thr) | |
| 3 | g.129530938C= | CA1401209354 | RHO | c.424C= (p.Pro142=) | |
| 3 | g.129530938C>G | CA354498165 | RHO | c.424C>G (p.Pro142Ala) | |
| 3 | g.129530938C>T | CA354498167 | RHO | c.424C>T (p.Pro142Ser) | dbSNP |
| 3 | g.129530939C>A | CA354498172 | RHO | c.425C>A (p.Pro142His) | |
| 3 | g.129530939C>G | CA354498174 | RHO | c.425C>G (p.Pro142Arg) | |
| 3 | g.129530939C>T | CA354498170 | RHO | c.425C>T (p.Pro142Leu) | gnomAD v4 |
| 3 | g.129530940C>A | CA435643868 | RHO | c.426C>A (p.Pro142=) | |
| 3 | g.129530940C>G | CA435643871 | RHO | c.426C>G (p.Pro142=) | dbSNP |
| 3 | g.129530940C>T | CA435643873 | RHO | c.426C>T (p.Pro142=) | ClinVar dbSNP |
| 3 | g.129530941A>C | CA354498180 | RHO | c.427A>C (p.Met143Leu) | |
| 3 | g.129530941A>G | CA354498176 | RHO | c.427A>G (p.Met143Val) | |
| 3 | g.129530941A>T | CA354498178 | RHO | c.427A>T (p.Met143Leu) | |
| 3 | g.129530942T>A | CA2607155 | RHO | c.428T>A (p.Met143Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530942T>C | CA354498185 | RHO | c.428T>C (p.Met143Thr) | dbSNP gnomAD v4 |
| 3 | g.129530942T>G | CA2607156 | RHO | c.428T>G (p.Met143Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530942T= | CA1401209362 | RHO | c.428T= (p.Met143=) | |
| 3 | g.129530943G>A | CA354498188 | RHO | c.429G>A (p.Met143Ile) | dbSNP gnomAD v4 |
| 3 | g.129530943G>C | CA354498189 | RHO | c.429G>C (p.Met143Ile) | |
| 3 | g.129530943G= | CA1401209365 | RHO | c.429G= (p.Met143=) | |
| 3 | g.129530943G>T | CA354498190 | RHO | c.429G>T (p.Met143Ile) | |
| 3 | g.129530944A>C | CA354498191 | RHO | c.430A>C (p.Ser144Arg) | |
| 3 | g.129530944A>G | CA354498192 | RHO | c.430A>G (p.Ser144Gly) | |
| 3 | g.129530944A>T | CA354498193 | RHO | c.430A>T (p.Ser144Cys) | |
| 3 | g.129530945G>A | CA354498195 | RHO | c.431G>A (p.Ser144Asn) | COSMIC |
| 3 | g.129530945G>C | CA354498196 | RHO | c.431G>C (p.Ser144Thr) | |
| 3 | g.129530945G>T | CA354498198 | RHO | c.431G>T (p.Ser144Ile) | |
| 3 | g.129530946C>A | CA354498202 | RHO | c.432C>A (p.Ser144Arg) | |
| 3 | g.129530946C= | CA1401209367 | RHO | c.432C= (p.Ser144=) | |
| 3 | g.129530946C>G | CA354498201 | RHO | c.432C>G (p.Ser144Arg) | |
| 3 | g.129530946C>T | CA435643895 | RHO | c.432C>T (p.Ser144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530947A>C | CA354498203 | RHO | c.433A>C (p.Asn145His) | |
| 3 | g.129530947A>G | CA354498206 | RHO | c.433A>G (p.Asn145Asp) | |
| 3 | g.129530947A>T | CA354498209 | RHO | c.433A>T (p.Asn145Tyr) | |
| 3 | g.129530948A>C | CA354498211 | RHO | c.434A>C (p.Asn145Thr) | |
| 3 | g.129530948A>G | CA354498213 | RHO | c.434A>G (p.Asn145Ser) | |
| 3 | g.129530948A>T | CA354498215 | RHO | c.434A>T (p.Asn145Ile) | |
| 3 | g.129530949C>A | CA354498217 | RHO | c.435C>A (p.Asn145Lys) | |
| 3 | g.129530949C>G | CA354498219 | RHO | c.435C>G (p.Asn145Lys) | |
| 3 | g.129530949C>T | CA435643902 | RHO | c.435C>T (p.Asn145=) | |
| 3 | g.129530950T>A | CA354498221 | RHO | c.436T>A (p.Phe146Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530950T>C | CA354498223 | RHO | c.436T>C (p.Phe146Leu) | |
| 3 | g.129530950T>G | CA354498226 | RHO | c.436T>G (p.Phe146Val) | |
| 3 | g.129530950T= | CA1401209370 | RHO | c.436T= (p.Phe146=) | |
| 3 | g.129530951T>A | CA354498229 | RHO | c.437T>A (p.Phe146Tyr) | gnomAD v4 |
| 3 | g.129530951T>C | CA354498231 | RHO | c.437T>C (p.Phe146Ser) | |
| 3 | g.129530951T>G | CA354498232 | RHO | c.437T>G (p.Phe146Cys) | |
| 3 | g.129530952C>A | CA354498234 | RHO | c.438C>A (p.Phe146Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530952C= | CA1401209376 | RHO | c.438C= (p.Phe146=) | |
| 3 | g.129530952C>G | CA354498237 | RHO | c.438C>G (p.Phe146Leu) | |
| 3 | g.129530952C>T | CA435643911 | RHO | c.438C>T (p.Phe146=) | |
| 3 | g.129530953C>A | CA354498239 | RHO | c.439C>A (p.Arg147Ser) | gnomAD v4 |
| 3 | g.129530953C= | CA1401209381 | RHO | c.439C= (p.Arg147=) | |
| 3 | g.129530953C>G | CA354498242 | RHO | c.439C>G (p.Arg147Gly) | |
| 3 | g.129530953C>T | CA2607157 | RHO | c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530954G>A | CA2607158 | RHO | c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530954G>C | CA354498251 | RHO | c.440G>C (p.Arg147Pro) | |
| 3 | g.129530954G= | CA1401209393 | RHO | c.440G= (p.Arg147=) | |
| 3 | g.129530954G>T | CA354498253 | RHO | c.440G>T (p.Arg147Leu) | |
| 3 | g.129530955C>A | CA435643918 | RHO | c.441C>A (p.Arg147=) | |
| 3 | g.129530955C= | CA1401209395 | RHO | c.441C= (p.Arg147=) | |
| 3 | g.129530955C>G | CA435643920 | RHO | c.441C>G (p.Arg147=) | |
| 3 | g.129530955C>T | CA435643922 | RHO | c.441C>T (p.Arg147=) | dbSNP |
| 3 | g.129530956T>A | CA354498260 | RHO | c.442T>A (p.Phe148Ile) | |
| 3 | g.129530956T>C | CA354498258 | RHO | c.442T>C (p.Phe148Leu) | |
| 3 | g.129530956T>G | CA354498256 | RHO | c.442T>G (p.Phe148Val) | |
| 3 | g.129530957T>A | CA354498262 | RHO | c.443T>A (p.Phe148Tyr) | |
| 3 | g.129530957T>C | CA354498263 | RHO | c.443T>C (p.Phe148Ser) | ClinVar |
| 3 | g.129530957T>G | CA354498264 | RHO | c.443T>G (p.Phe148Cys) | |
| 3 | g.129530958C>A | CA354498266 | RHO | c.444C>A (p.Phe148Leu) | gnomAD v4 |
| 3 | g.129530958C= | CA1401209397 | RHO | c.444C= (p.Phe148=) | |
| 3 | g.129530958C>G | CA354498268 | RHO | c.444C>G (p.Phe148Leu) | gnomAD v4 |
| 3 | g.129530958C>T | CA2607159 | RHO | c.444C>T (p.Phe148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530959G>A | CA2607160 | RHO | c.445G>A (p.Gly149Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530959G>C | CA354498272 | RHO | c.445G>C (p.Gly149Arg) | |
| 3 | g.129530959G= | CA1401209401 | RHO | c.445G= (p.Gly149=) | |
| 3 | g.129530959G>T | CA354498271 | RHO | c.445G>T (p.Gly149Trp) | dbSNP gnomAD v4 |
| 3 | g.129530962del | CA645514953 | RHO | c.448del (p.Glu150ArgfsTer?) | COSMIC |
| 3 | g.129530960G>A | CA82648577 | RHO | c.446G>A (p.Gly149Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530960G>C | CA354498275 | RHO | c.446G>C (p.Gly149Ala) | |
| 3 | g.129530960G= | CA1401209405 | RHO | c.446G= (p.Gly149=) | |
| 3 | g.129530960G>T | CA354498277 | RHO | c.446G>T (p.Gly149Val) | |
| 3 | g.129530961G>A | CA435643939 | RHO | c.447G>A (p.Gly149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530961G>C | CA435643942 | RHO | c.447G>C (p.Gly149=) | |
| 3 | g.129530961G= | CA1401209410 | RHO | c.447G= (p.Gly149=) | |
| 3 | g.129530961G>T | CA435643943 | RHO | c.447G>T (p.Gly149=) | |
| 3 | g.129530962G>A | CA122824 | RHO | c.448G>A (p.Glu150Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530962G>C | CA2607161 | RHO | c.448G>C (p.Glu150Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530962G= | CA1401209417 | RHO | c.448G= (p.Glu150=) | |
| 3 | g.129530962G>T | CA354498282 | RHO | c.448G>T (p.Glu150Ter) | |
| 3 | g.129530963A>C | CA354498284 | RHO | c.449A>C (p.Glu150Ala) | |
| 3 | g.129530963A>G | CA354498286 | RHO | c.449A>G (p.Glu150Gly) | |
| 3 | g.129530963A>T | CA354498290 | RHO | c.449A>T (p.Glu150Val) | |
| 3 | g.129530964G>A | CA435643952 | RHO | c.450G>A (p.Glu150=) | |
| 3 | g.129530964G>C | CA354498294 | RHO | c.450G>C (p.Glu150Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530964G= | CA1401209423 | RHO | c.450G= (p.Glu150=) | |
| 3 | g.129530964G>T | CA354498295 | RHO | c.450G>T (p.Glu150Asp) | |
| 3 | g.129530965A>C | CA354498296 | RHO | c.451A>C (p.Asn151His) | |
| 3 | g.129530965A>G | CA354498301 | RHO | c.451A>G (p.Asn151Asp) | |
| 3 | g.129530965A>T | CA354498298 | RHO | c.451A>T (p.Asn151Tyr) | |
| 3 | g.129530966A= | CA1401209428 | RHO | c.452A= (p.Asn151=) | |
| 3 | g.129530966A>C | CA354498304 | RHO | c.452A>C (p.Asn151Thr) | |
| 3 | g.129530966A>G | CA354498309 | RHO | c.452A>G (p.Asn151Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530966A>T | CA354498306 | RHO | c.452A>T (p.Asn151Ile) | |
| 3 | g.129530967C>A | CA354498312 | RHO | c.453C>A (p.Asn151Lys) | |
| 3 | g.129530967C>G | CA354498315 | RHO | c.453C>G (p.Asn151Lys) | |
| 3 | g.129530967C>T | CA435643964 | RHO | c.453C>T (p.Asn151=) | dbSNP gnomAD v4 |
| 3 | g.129530968C>A | CA354498318 | RHO | c.454C>A (p.His152Asn) | |
| 3 | g.129530968C= | CA1401209432 | RHO | c.454C= (p.His152=) | |
| 3 | g.129530968C>G | CA354498321 | RHO | c.454C>G (p.His152Asp) | |
| 3 | g.129530968C>T | CA354498322 | RHO | c.454C>T (p.His152Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530969A>C | CA354498324 | RHO | c.455A>C (p.His152Pro) | |
| 3 | g.129530969A>G | CA354498330 | RHO | c.455A>G (p.His152Arg) | gnomAD v4 |
| 3 | g.129530969A>T | CA354498336 | RHO | c.455A>T (p.His152Leu) | |
| 3 | g.129530970T>A | CA354498340 | RHO | c.456T>A (p.His152Gln) | |
| 3 | g.129530970T>C | CA435643976 | RHO | c.456T>C (p.His152=) | dbSNP gnomAD v4 |
| 3 | g.129530970T>G | CA354498344 | RHO | c.456T>G (p.His152Gln) | gnomAD v4 |
| 3 | g.129530971G>A | CA354498352 | RHO | c.457G>A (p.Ala153Thr) | dbSNP gnomAD v2 |
| 3 | g.129530971G>C | CA354498357 | RHO | c.457G>C (p.Ala153Pro) | |
| 3 | g.129530971G= | CA1401209436 | RHO | c.457G= (p.Ala153=) | |
| 3 | g.129530971G>T | CA354498359 | RHO | c.457G>T (p.Ala153Ser) | |
| 3 | g.129530972C>A | CA354498362 | RHO | c.458C>A (p.Ala153Asp) | ClinVar dbSNP |
| 3 | g.129530972C= | CA1401209444 | RHO | c.458C= (p.Ala153=) | |
| 3 | g.129530972C>G | CA354498365 | RHO | c.458C>G (p.Ala153Gly) | COSMIC |
| 3 | g.129530972C>T | CA354498363 | RHO | c.458C>T (p.Ala153Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530973C>A | CA435643986 | RHO | c.459C>A (p.Ala153=) | gnomAD v4 |
| 3 | g.129530973C= | CA1401209449 | RHO | c.459C= (p.Ala153=) | |
| 3 | g.129530973C>G | CA435643988 | RHO | c.459C>G (p.Ala153=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530973C>T | CA435643990 | RHO | c.459C>T (p.Ala153=) | dbSNP |
| 3 | g.129530974A>C | CA354498366 | RHO | c.460A>C (p.Ile154Leu) | |
| 3 | g.129530974A>G | CA354498368 | RHO | c.460A>G (p.Ile154Val) | gnomAD v4 |
| 3 | g.129530974A>T | CA354498370 | RHO | c.460A>T (p.Ile154Phe) | |
| 3 | g.129530975T>A | CA354498371 | RHO | c.461T>A (p.Ile154Asn) | |
| 3 | g.129530975T>C | CA354498373 | RHO | c.461T>C (p.Ile154Thr) | |
| 3 | g.129530975T>G | CA354498375 | RHO | c.461T>G (p.Ile154Ser) | |
| 3 | g.129530976C>A | CA435643999 | RHO | c.462C>A (p.Ile154=) | |
| 3 | g.129530976C>G | CA354498376 | RHO | c.462C>G (p.Ile154Met) | |
| 3 | g.129530976C>T | CA435644002 | RHO | c.462C>T (p.Ile154=) | gnomAD v4 |
| 3 | g.129530977A= | CA1401209452 | RHO | c.463A= (p.Met155=) | |
| 3 | g.129530977A>C | CA354498379 | RHO | c.463A>C (p.Met155Leu) | |
| 3 | g.129530977A>G | CA2607162 | RHO | c.463A>G (p.Met155Val) | dbSNP ExAC |
| 3 | g.129530977A>T | CA354498393 | RHO | c.463A>T (p.Met155Leu) | |
| 3 | g.129530978T>A | CA354498399 | RHO | c.464T>A (p.Met155Lys) | |
| 3 | g.129530978T>C | CA2607163 | RHO | c.464T>C (p.Met155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530978T>G | CA354498395 | RHO | c.464T>G (p.Met155Arg) | |
| 3 | g.129530978T= | CA1401209457 | RHO | c.464T= (p.Met155=) | |
| 3 | g.129530979G>A | CA354498402 | RHO | c.465G>A (p.Met155Ile) | COSMIC |
| 3 | g.129530979G>C | CA354498404 | RHO | c.465G>C (p.Met155Ile) | |
| 3 | g.129530979G>T | CA354498406 | RHO | c.465G>T (p.Met155Ile) | |
| 3 | g.129530980G>A | CA354498408 | RHO | c.466G>A (p.Gly156Ser) | gnomAD v4 |
| 3 | g.129530980G>C | CA354498413 | RHO | c.466G>C (p.Gly156Arg) | gnomAD v4 |
| 3 | g.129530980G>T | CA354498415 | RHO | c.466G>T (p.Gly156Cys) | |
| 3 | g.129530981G>A | CA2607165 | RHO | c.467G>A (p.Gly156Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530981G>C | CA354498419 | RHO | c.467G>C (p.Gly156Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530981G= | CA1401209461 | RHO | c.467G= (p.Gly156=) | |
| 3 | g.129530981G>T | CA2607164 | RHO | c.467G>T (p.Gly156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530982C>A | CA435644023 | RHO | c.468C>A (p.Gly156=) | |
| 3 | g.129530982C= | CA1401209465 | RHO | c.468C= (p.Gly156=) | |
| 3 | g.129530982C>G | CA435644024 | RHO | c.468C>G (p.Gly156=) | |
| 3 | g.129530982C>T | CA2607166 | RHO | c.468C>T (p.Gly156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530983G>A | CA2607167 | RHO | c.469G>A (p.Val157Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530983G>C | CA354498423 | RHO | c.469G>C (p.Val157Leu) | |
| 3 | g.129530983G= | CA1401209468 | RHO | c.469G= (p.Val157=) | |
| 3 | g.129530983G>T | CA354498428 | RHO | c.469G>T (p.Val157Phe) | |
| 3 | g.129530984T>A | CA354498443 | RHO | c.470T>A (p.Val157Asp) | |
| 3 | g.129530984T>C | CA354498431 | RHO | c.470T>C (p.Val157Ala) | |
| 3 | g.129530984T>G | CA354498438 | RHO | c.470T>G (p.Val157Gly) | |
| 3 | g.129530985T>A | CA435644036 | RHO | c.471T>A (p.Val157=) | |
| 3 | g.129530985T>C | CA435644038 | RHO | c.471T>C (p.Val157=) | |
| 3 | g.129530985T>G | CA435644040 | RHO | c.471T>G (p.Val157=) | dbSNP |