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.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?) | ClinVar dbSNP |
| 3 | g.129532270C>A | CA354499176 | RHO | c.550C>A (p.Gln184Lys) | |
| 3 | g.129532270C>G | CA354499180 | RHO | c.550C>G (p.Gln184Glu) | |
| 3 | g.129532270C>T | CA354499182 | RHO | c.550C>T (p.Gln184Ter) | |
| 3 | g.129532271A= | CA1401210951 | RHO | c.551A= (p.Gln184=) | |
| 3 | g.129532271A>C | CA354499185 | RHO | c.551A>C (p.Gln184Pro) | |
| 3 | g.129532271A>G | CA354499186 | RHO | c.551A>G (p.Gln184Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532271A>T | CA354499187 | RHO | c.551A>T (p.Gln184Leu) | |
| 3 | g.129532272G>A | CA435644657 | RHO | c.552G>A (p.Gln184=) | |
| 3 | g.129532272G>C | CA354499191 | RHO | c.552G>C (p.Gln184His) | |
| 3 | g.129532272G>T | CA354499193 | RHO | c.552G>T (p.Gln184His) | |
| 3 | g.129532273T>A | CA354499201 | RHO | c.553T>A (p.Cys185Ser) | |
| 3 | g.129532273T>C | CA354499200 | RHO | c.553T>C (p.Cys185Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532273T>G | CA354499198 | RHO | c.553T>G (p.Cys185Gly) | |
| 3 | g.129532273T= | CA1401210960 | RHO | c.553T= (p.Cys185=) | |
| 3 | g.129532274G>A | CA354499204 | RHO | c.554G>A (p.Cys185Tyr) | ClinVar |
| 3 | g.129532274G>C | CA354499207 | RHO | c.554G>C (p.Cys185Ser) | |
| 3 | g.129532274G>T | CA354499210 | RHO | c.554G>T (p.Cys185Phe) | gnomAD v4 |
| 3 | g.129532275C>A | CA354499211 | RHO | c.555C>A (p.Cys185Ter) | |
| 3 | g.129532275C>G | CA354499212 | RHO | c.555C>G (p.Cys185Trp) | |
| 3 | g.129532275C>T | CA435644666 | RHO | c.555C>T (p.Cys185=) | gnomAD v4 |
| 3 | g.129532276T>A | CA354499213 | RHO | c.556T>A (p.Ser186Thr) | |
| 3 | g.129532276T>C | CA354499214 | RHO | c.556T>C (p.Ser186Pro) | ClinVar |
| 3 | g.129532276T>G | CA354499216 | RHO | c.556T>G (p.Ser186Ala) | |
| 3 | g.129532277C>A | CA354499219 | RHO | c.557C>A (p.Ser186Ter) | |
| 3 | g.129532277C= | CA1401210969 | RHO | c.557C= (p.Ser186=) | |
| 3 | g.129532277C>G | CA354499220 | RHO | c.557C>G (p.Ser186Trp) | ClinVar dbSNP |
| 3 | g.129532277C>T | CA2607205 | RHO | c.557C>T (p.Ser186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129532278G>A | CA2607206 | RHO | c.558G>A (p.Ser186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532278G>C | CA435644683 | RHO | c.558G>C (p.Ser186=) | |
| 3 | g.129532278G= | CA1401210978 | RHO | c.558G= (p.Ser186=) | |
| 3 | g.129532278G>T | CA2607207 | RHO | c.558G>T (p.Ser186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532279T>A | CA354499234 | RHO | c.559T>A (p.Cys187Ser) | |
| 3 | g.129532279T>C | CA354499233 | RHO | c.559T>C (p.Cys187Arg) | ClinVar dbSNP |
| 3 | g.129532279T>G | CA354499230 | RHO | c.559T>G (p.Cys187Gly) | |
| 3 | g.129532279T= | CA1401210990 | RHO | c.559T= (p.Cys187=) | |
| 3 | g.129532280G>A | CA354499244 | RHO | c.560G>A (p.Cys187Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.129532280G>C | CA354499239 | RHO | c.560G>C (p.Cys187Ser) | ClinVar dbSNP |
| 3 | g.129532280G= | CA1401210998 | RHO | c.560G= (p.Cys187=) | |
| 3 | g.129532280G>T | CA354499242 | RHO | c.560G>T (p.Cys187Phe) | ClinVar dbSNP |
| 3 | g.129532281T>A | CA354499248 | RHO | c.561T>A (p.Cys187Ter) | |
| 3 | g.129532281T>C | CA435644698 | RHO | c.561T>C (p.Cys187=) | |
| 3 | g.129532281T>G | CA354499251 | RHO | c.561T>G (p.Cys187Trp) | |
| 3 | g.129532282G>A | CA270025 | RHO | c.562G>A (p.Gly188Arg) | ClinVar dbSNP COSMIC |
| 3 | g.129532282G>C | CA354499264 | RHO | c.562G>C (p.Gly188Arg) | |
| 3 | g.129532282G= | CA1401211010 | RHO | c.562G= (p.Gly188=) | |
| 3 | g.129532282G>T | CA354499268 | RHO | c.562G>T (p.Gly188Ter) | |
| 3 | g.129532283G>A | CA354499271 | RHO | c.563G>A (p.Gly188Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532283G>C | CA354499274 | RHO | c.563G>C (p.Gly188Ala) | |
| 3 | g.129532283G= | CA1401211016 | RHO | c.563G= (p.Gly188=) | |
| 3 | g.129532283G>T | CA354499278 | RHO | c.563G>T (p.Gly188Val) | |
| 3 | g.129532284A>C | CA435644717 | RHO | c.564A>C (p.Gly188=) | |
| 3 | g.129532284A>G | CA435644719 | RHO | c.564A>G (p.Gly188=) | |
| 3 | g.129532284A>T | CA435644722 | RHO | c.564A>T (p.Gly188=) | |
| 3 | g.129532285A>C | CA354499281 | RHO | c.565A>C (p.Ile189Leu) | |
| 3 | g.129532285A>G | CA354499284 | RHO | c.565A>G (p.Ile189Val) | |
| 3 | g.129532285A>T | CA354499286 | RHO | c.565A>T (p.Ile189Phe) | |
| 3 | g.129532286T>A | CA354499293 | RHO | c.566T>A (p.Ile189Asn) | |
| 3 | g.129532286T>C | CA354499289 | RHO | c.566T>C (p.Ile189Thr) | |
| 3 | g.129532286T>G | CA354499291 | RHO | c.566T>G (p.Ile189Ser) | |
| 3 | g.129532287C>A | CA435644739 | RHO | c.567C>A (p.Ile189=) | |
| 3 | g.129532287C= | CA1401211019 | RHO | c.567C= (p.Ile189=) | |
| 3 | g.129532287C>G | CA354499296 | RHO | c.567C>G (p.Ile189Met) | |
| 3 | g.129532287C>T | CA2607208 | RHO | c.567C>T (p.Ile189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532288G>A | CA256670 | RHO | c.568G>A (p.Asp190Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532288G>C | CA354499304 | RHO | c.568G>C (p.Asp190His) | ClinVar dbSNP |
| 3 | g.129532288G= | CA1401211029 | RHO | c.568G= (p.Asp190=) | |
| 3 | g.129532288G>T | CA256684 | RHO | c.568G>T (p.Asp190Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532289A= | CA1401211041 | RHO | c.569A= (p.Asp190=) | |
| 3 | g.129532289A>C | CA354499308 | RHO | c.569A>C (p.Asp190Ala) | |
| 3 | g.129532289A>G | CA256673 | RHO | c.569A>G (p.Asp190Gly) | ClinVar dbSNP |
| 3 | g.129532289A>T | CA354499312 | RHO | c.569A>T (p.Asp190Val) | |
| 3 | g.129532290C>A | CA354499314 | RHO | c.570C>A (p.Asp190Glu) | |
| 3 | g.129532290C= | CA1401211050 | RHO | c.570C= (p.Asp190=) | |
| 3 | g.129532290C>G | CA354499320 | RHO | c.570C>G (p.Asp190Glu) | ClinVar dbSNP |
| 3 | g.129532290C>T | CA435644762 | RHO | c.570C>T (p.Asp190=) | |
| 3 | g.129532291T>A | CA354499324 | RHO | c.571T>A (p.Tyr191Asn) | ClinVar dbSNP |
| 3 | g.129532291T>C | CA354499328 | RHO | c.571T>C (p.Tyr191His) | |
| 3 | g.129532291T>G | CA354499331 | RHO | c.571T>G (p.Tyr191Asp) | ClinVar dbSNP |
| 3 | g.129532291T= | CA1401211059 | RHO | c.571T= (p.Tyr191=) | |
| 3 | g.129532292A>C | CA354469676 | RHO | c.572A>C (p.Tyr191Ser) | |
| 3 | g.129532292A>G | CA354469678 | RHO | c.572A>G (p.Tyr191Cys) | |
| 3 | g.129532292A>T | CA354469675 | RHO | c.572A>T (p.Tyr191Phe) | gnomAD v4 |
| 3 | g.129532293C>A | CA354469680 | RHO | c.573C>A (p.Tyr191Ter) | |
| 3 | g.129532293C>G | CA354469682 | RHO | c.573C>G (p.Tyr191Ter) | |
| 3 | g.129532293C>T | CA435768906 | RHO | c.573C>T (p.Tyr191=) | COSMIC |
| 3 | g.129532294T>A | CA354469683 | RHO | c.574T>A (p.Tyr192Asn) | gnomAD v4 |
| 3 | g.129532294T>C | CA354469684 | RHO | c.574T>C (p.Tyr192His) | |
| 3 | g.129532294T>G | CA354469685 | RHO | c.574T>G (p.Tyr192Asp) | |
| 3 | g.129532294dup | CA2577961791 | RHO | c.574dup (p.Tyr192LeufsTer?) | gnomAD v4 |
| 3 | g.129532295A= | CA1401211071 | RHO | c.575A= (p.Tyr192=) | |
| 3 | g.129532295A>C | CA354469686 | RHO | c.575A>C (p.Tyr192Ser) | |
| 3 | g.129532295A>G | CA354469688 | RHO | c.575A>G (p.Tyr192Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532295A>T | CA354469690 | RHO | c.575A>T (p.Tyr192Phe) | |
| 3 | g.129532296C>A | CA354469691 | RHO | c.576C>A (p.Tyr192Ter) | |
| 3 | g.129532296C= | CA1401211074 | RHO | c.576C= (p.Tyr192=) | |
| 3 | g.129532296C>G | CA354469693 | RHO | c.576C>G (p.Tyr192Ter) | |
| 3 | g.129532296C>T | CA82620436 | RHO | c.576C>T (p.Tyr192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532297A>C | CA354469696 | RHO | c.577A>C (p.Thr193Pro) | |
| 3 | g.129532297A>G | CA354469697 | RHO | c.577A>G (p.Thr193Ala) | |
| 3 | g.129532297A>T | CA354469698 | RHO | c.577A>T (p.Thr193Ser) | |
| 3 | g.129532298C>A | CA2607210 | RHO | c.578C>A (p.Thr193Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532298C= | CA1401211083 | RHO | c.578C= (p.Thr193=) | |
| 3 | g.129532298C>G | CA354469702 | RHO | c.578C>G (p.Thr193Arg) | |
| 3 | g.129532298C>T | CA2607209 | RHO | c.578C>T (p.Thr193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532299G>A | CA2607211 | RHO | c.579G>A (p.Thr193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532299G>C | CA82620446 | RHO | c.579G>C (p.Thr193=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532299G= | CA1401211090 | RHO | c.579G= (p.Thr193=) | |
| 3 | g.129532299G>T | CA435768913 | RHO | c.579G>T (p.Thr193=) | gnomAD v4 |
| 3 | g.129532300C>A | CA354469705 | RHO | c.580C>A (p.Leu194Ile) | |
| 3 | g.129532300C>G | CA354469707 | RHO | c.580C>G (p.Leu194Val) | |
| 3 | g.129532300C>T | CA354469709 | RHO | c.580C>T (p.Leu194Phe) | |
| 3 | g.129532301T>A | CA354469711 | RHO | c.581T>A (p.Leu194His) | |
| 3 | g.129532301T>C | CA354469712 | RHO | c.581T>C (p.Leu194Pro) | |
| 3 | g.129532301T>G | CA354469714 | RHO | c.581T>G (p.Leu194Arg) | |
| 3 | g.129532302C>A | CA435768918 | RHO | c.582C>A (p.Leu194=) | |
| 3 | g.129532302C= | CA1401211094 | RHO | c.582C= (p.Leu194=) | |
| 3 | g.129532302C>G | CA435768920 | RHO | c.582C>G (p.Leu194=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532302C>T | CA435768921 | RHO | c.582C>T (p.Leu194=) | gnomAD v4 |
| 3 | g.129532303A>C | CA354469715 | RHO | c.583A>C (p.Lys195Gln) | |
| 3 | g.129532303A>G | CA354469717 | RHO | c.583A>G (p.Lys195Glu) | |
| 3 | g.129532303A>T | CA354469719 | RHO | c.583A>T (p.Lys195Ter) | |
| 3 | g.129532304A>C | CA354469720 | RHO | c.584A>C (p.Lys195Thr) | |
| 3 | g.129532304A>G | CA354469722 | RHO | c.584A>G (p.Lys195Arg) | |
| 3 | g.129532304A>T | CA354469724 | RHO | c.584A>T (p.Lys195Met) | |
| 3 | g.129532305G>A | CA435768926 | RHO | c.585G>A (p.Lys195=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532305G>C | CA354469727 | RHO | c.585G>C (p.Lys195Asn) | |
| 3 | g.129532305G= | CA1401211097 | RHO | c.585G= (p.Lys195=) | |
| 3 | g.129532305G>T | CA354469726 | RHO | c.585G>T (p.Lys195Asn) | dbSNP |
| 3 | g.129532306C>A | CA10615276 | RHO | c.586C>A (p.Pro196Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532306C= | CA1401211103 | RHO | c.586C= (p.Pro196=) | |
| 3 | g.129532306C>G | CA354469730 | RHO | c.586C>G (p.Pro196Ala) | |
| 3 | g.129532306C>T | CA2607212 | RHO | c.586C>T (p.Pro196Ser) | dbSNP ExAC gnomAD v4 |
| 3 | g.129532307C>A | CA354469732 | RHO | c.587C>A (p.Pro196Gln) | |
| 3 | g.129532307C= | CA1401211109 | RHO | c.587C= (p.Pro196=) | |
| 3 | g.129532307C>G | CA354469734 | RHO | c.587C>G (p.Pro196Arg) | |
| 3 | g.129532307C>T | CA2607213 | RHO | c.587C>T (p.Pro196Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532308G>A | CA435768933 | RHO | c.588G>A (p.Pro196=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532308G>C | CA2607214 | RHO | c.588G>C (p.Pro196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532308G= | CA1401211112 | RHO | c.588G= (p.Pro196=) | |
| 3 | g.129532308G>T | CA435768934 | RHO | c.588G>T (p.Pro196=) | dbSNP |
| 3 | g.129532309G>A | CA354469736 | RHO | c.589G>A (p.Glu197Lys) | gnomAD v4 |
| 3 | g.129532309G>C | CA354469737 | RHO | c.589G>C (p.Glu197Gln) | dbSNP |
| 3 | g.129532309G= | CA1401211119 | RHO | c.589G= (p.Glu197=) | |
| 3 | g.129532309G>T | CA354469739 | RHO | c.589G>T (p.Glu197Ter) | gnomAD v4 |
| 3 | g.129532310A>C | CA354469741 | RHO | c.590A>C (p.Glu197Ala) | |
| 3 | g.129532310A>G | CA354469743 | RHO | c.590A>G (p.Glu197Gly) | |
| 3 | g.129532310A>T | CA354469744 | RHO | c.590A>T (p.Glu197Val) | |
| 3 | g.129532311G>A | CA435768939 | RHO | c.591G>A (p.Glu197=) | |
| 3 | g.129532311G>C | CA354469748 | RHO | c.591G>C (p.Glu197Asp) | |
| 3 | g.129532311G>T | CA354469746 | RHO | c.591G>T (p.Glu197Asp) | |
| 3 | g.129532312G>A | CA354469750 | RHO | c.592G>A (p.Val198Ile) | gnomAD v4 |
| 3 | g.129532312G>C | CA354469751 | RHO | c.592G>C (p.Val198Leu) | |
| 3 | g.129532312G>T | CA354469753 | RHO | c.592G>T (p.Val198Phe) | |
| 3 | g.129532313T>A | CA354469755 | RHO | c.593T>A (p.Val198Asp) | |
| 3 | g.129532313T>C | CA2607215 | RHO | c.593T>C (p.Val198Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532313T>G | CA354469756 | RHO | c.593T>G (p.Val198Gly) | |
| 3 | g.129532313T= | CA1401211122 | RHO | c.593T= (p.Val198=) | |
| 3 | g.129532313_129532316delinsTCAA | CA1401211121 | RHO | c.593_596delinsTCAA (p.Val198=) | |
| 3 | g.129532314C>A | CA435768942 | RHO | c.594C>A (p.Val198=) | |
| 3 | g.129532314C= | CA1401211128 | RHO | c.594C= (p.Val198=) | |
| 3 | g.129532314C>G | CA2607217 | RHO | c.594C>G (p.Val198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532314C>T | CA435768944 | RHO | c.594C>T (p.Val198=) | |
| 3 | g.129532318_129532320del | CA2607216 | RHO | c.598_600del (p.Asn200del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532315A>C | CA354469759 | RHO | c.595A>C (p.Asn199His) | |
| 3 | g.129532315A>G | CA354469761 | RHO | c.595A>G (p.Asn199Asp) | gnomAD v4 |
| 3 | g.129532315A>T | CA354469762 | RHO | c.595A>T (p.Asn199Tyr) | |
| 3 | g.129532316del | CA2667616874 | RHO | c.596del (p.Asn199ThrfsTer18) | gnomAD v4 |
| 3 | g.129532316A>C | CA354469763 | RHO | c.596A>C (p.Asn199Thr) | |
| 3 | g.129532316A>G | CA354469765 | RHO | c.596A>G (p.Asn199Ser) | gnomAD v4 |
| 3 | g.129532316A>T | CA354469767 | RHO | c.596A>T (p.Asn199Ile) | |
| 3 | g.129532317C>A | CA354469769 | RHO | c.597C>A (p.Asn199Lys) | gnomAD v4 |
| 3 | g.129532317C= | CA1401211132 | RHO | c.597C= (p.Asn199=) | |
| 3 | g.129532317C>G | CA2607218 | RHO | c.597C>G (p.Asn199Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532317C>T | CA435768947 | RHO | c.597C>T (p.Asn199=) | gnomAD v4 |
| 3 | g.129532318A= | CA1401211136 | RHO | c.598A= (p.Asn200=) | |
| 3 | g.129532318A>C | CA354469771 | RHO | c.598A>C (p.Asn200His) | |
| 3 | g.129532318A>G | CA82620494 | RHO | c.598A>G (p.Asn200Asp) | dbSNP gnomAD v4 |
| 3 | g.129532318A>T | CA354469772 | RHO | c.598A>T (p.Asn200Tyr) | |
| 3 | g.129532319A>C | CA354469774 | RHO | c.599A>C (p.Asn200Thr) | |
| 3 | g.129532319A>G | CA354469777 | RHO | c.599A>G (p.Asn200Ser) | |
| 3 | g.129532319A>T | CA354469775 | RHO | c.599A>T (p.Asn200Ile) | |
| 3 | g.129532320C>A | CA354469780 | RHO | c.600C>A (p.Asn200Lys) | gnomAD v4 |
| 3 | g.129532320C= | CA1401211144 | RHO | c.600C= (p.Asn200=) | |
| 3 | g.129532320C>G | CA354469781 | RHO | c.600C>G (p.Asn200Lys) | |
| 3 | g.129532320C>T | CA2607219 | RHO | c.600C>T (p.Asn200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532321G>A | CA354469783 | RHO | c.601G>A (p.Glu201Lys) | dbSNP gnomAD v4 |
| 3 | g.129532321G>C | CA354469785 | RHO | c.601G>C (p.Glu201Gln) | |
| 3 | g.129532321G= | CA1401211155 | RHO | c.601G= (p.Glu201=) | |
| 3 | g.129532321G>T | CA2607220 | RHO | c.601G>T (p.Glu201Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129532322A= | CA1401211157 | RHO | c.602A= (p.Glu201=) | |
| 3 | g.129532322A>C | CA354469788 | RHO | c.602A>C (p.Glu201Ala) | |
| 3 | g.129532322A>G | CA354469790 | RHO | c.602A>G (p.Glu201Gly) | gnomAD v4 |
| 3 | g.129532322A>T | CA354469791 | RHO | c.602A>T (p.Glu201Val) | dbSNP |
| 3 | g.129532323G>A | CA435768951 | RHO | c.603G>A (p.Glu201=) | dbSNP gnomAD v4 |
| 3 | g.129532323G>C | CA354469793 | RHO | c.603G>C (p.Glu201Asp) | |
| 3 | g.129532323G>T | CA354469795 | RHO | c.603G>T (p.Glu201Asp) | |
| 3 | g.129532324T>A | CA354469799 | RHO | c.604T>A (p.Ser202Thr) | |
| 3 | g.129532324T>C | CA354469798 | RHO | c.604T>C (p.Ser202Pro) | |
| 3 | g.129532324T>G | CA354469797 | RHO | c.604T>G (p.Ser202Ala) | |
| 3 | g.129532325C>A | CA354469801 | RHO | c.605C>A (p.Ser202Tyr) | |
| 3 | g.129532325C>G | CA354469803 | RHO | c.605C>G (p.Ser202Cys) | |
| 3 | g.129532325C>T | CA354469805 | RHO | c.605C>T (p.Ser202Phe) | |
| 3 | g.129532326T>A | CA435768954 | RHO | c.606T>A (p.Ser202=) | |
| 3 | g.129532326T>C | CA82620501 | RHO | c.606T>C (p.Ser202=) | dbSNP gnomAD v2 |
| 3 | g.129532326T>G | CA435768955 | RHO | c.606T>G (p.Ser202=) | dbSNP |
| 3 | g.129532326T= | CA1401211160 | RHO | c.606T= (p.Ser202=) | |
| 3 | g.129532327T>A | CA354469807 | RHO | c.607T>A (p.Phe203Ile) | |
| 3 | g.129532327T>C | CA354469808 | RHO | c.607T>C (p.Phe203Leu) | |
| 3 | g.129532327T>G | CA354469810 | RHO | c.607T>G (p.Phe203Val) | |
| 3 | g.129532328T>A | CA354469811 | RHO | c.608T>A (p.Phe203Tyr) | |
| 3 | g.129532328T>C | CA354469813 | RHO | c.608T>C (p.Phe203Ser) | ClinVar dbSNP |
| 3 | g.129532328T>G | CA354469814 | RHO | c.608T>G (p.Phe203Cys) | |
| 3 | g.129532329T>A | CA354469815 | RHO | c.609T>A (p.Phe203Leu) | |
| 3 | g.129532329T>C | CA435768960 | RHO | c.609T>C (p.Phe203=) | dbSNP gnomAD v4 |
| 3 | g.129532329T>G | CA354469816 | RHO | c.609T>G (p.Phe203Leu) | |
| 3 | g.129532330G>A | CA354469821 | RHO | c.610G>A (p.Val204Ile) | |
| 3 | g.129532330G>C | CA354469819 | RHO | c.610G>C (p.Val204Leu) | gnomAD v4 |
| 3 | g.129532330G>T | CA354469817 | RHO | c.610G>T (p.Val204Phe) | |
| 3 | g.129532331T>A | CA354469823 | RHO | c.611T>A (p.Val204Asp) | |
| 3 | g.129532331T>C | CA354469824 | RHO | c.611T>C (p.Val204Ala) | |
| 3 | g.129532331T>G | CA354469826 | RHO | c.611T>G (p.Val204Gly) | |
| 3 | g.129532332C>A | CA435768963 | RHO | c.612C>A (p.Val204=) | |
| 3 | g.129532332C>G | CA435768964 | RHO | c.612C>G (p.Val204=) | |
| 3 | g.129532332C>T | CA435768967 | RHO | c.612C>T (p.Val204=) | |
| 3 | g.129532333A= | CA1401211164 | RHO | c.613A= (p.Ile205=) | |
| 3 | g.129532333A>C | CA354469827 | RHO | c.613A>C (p.Ile205Leu) | |
| 3 | g.129532333A>G | CA82620505 | RHO | c.613A>G (p.Ile205Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532333A>T | CA354469829 | RHO | c.613A>T (p.Ile205Phe) | gnomAD v4 |
| 3 | g.129532334T>A | CA354469830 | RHO | c.614T>A (p.Ile205Asn) | |
| 3 | g.129532334T>C | CA354469831 | RHO | c.614T>C (p.Ile205Thr) | gnomAD v4 |
| 3 | g.129532334T>G | CA10615279 | RHO | c.614T>G (p.Ile205Ser) | ClinVar dbSNP |
| 3 | g.129532334T= | CA1401211170 | RHO | c.614T= (p.Ile205=) | |
| 3 | g.129532336_129532344del | CA2579758046 | RHO | c.616_624del (p.Tyr206_Phe208del) | |
| 3 | g.129532335C>A | CA435768970 | RHO | c.615C>A (p.Ile205=) | |
| 3 | g.129532335C>G | CA354469834 | RHO | c.615C>G (p.Ile205Met) | gnomAD v4 |
| 3 | g.129532335C>T | CA435768971 | RHO | c.615C>T (p.Ile205=) | |
| 3 | g.129532336T>A | CA354469835 | RHO | c.616T>A (p.Tyr206Asn) | |
| 3 | g.129532336T>C | CA354469837 | RHO | c.616T>C (p.Tyr206His) | COSMIC |
| 3 | g.129532336T>G | CA354469839 | RHO | c.616T>G (p.Tyr206Asp) | |
| 3 | g.129532337A>C | CA354469840 | RHO | c.617A>C (p.Tyr206Ser) | ClinVar |
| 3 | g.129532337A>G | CA354469843 | RHO | c.617A>G (p.Tyr206Cys) | |
| 3 | g.129532337A>T | CA354469841 | RHO | c.617A>T (p.Tyr206Phe) | |
| 3 | g.129532338C>A | CA354469845 | RHO | c.618C>A (p.Tyr206Ter) | |
| 3 | g.129532338C= | CA1401211179 | RHO | c.618C= (p.Tyr206=) | |
| 3 | g.129532338C>G | CA354469846 | RHO | c.618C>G (p.Tyr206Ter) | |
| 3 | g.129532338C>T | CA435768974 | RHO | c.618C>T (p.Tyr206=) | dbSNP |
| 3 | g.129532339A= | CA1401211181 | RHO | c.619A= (p.Met207=) | |
| 3 | g.129532339A>C | CA354469848 | RHO | c.619A>C (p.Met207Leu) | |
| 3 | g.129532339A>G | CA2607221 | RHO | c.619A>G (p.Met207Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532339A>T | CA354469850 | RHO | c.619A>T (p.Met207Leu) | |
| 3 | g.129532340T>A | CA354469852 | RHO | c.620T>A (p.Met207Lys) | |
| 3 | g.129532340T>C | CA354469853 | RHO | c.620T>C (p.Met207Thr) | dbSNP gnomAD v4 COSMIC |
| 3 | g.129532340T>G | CA256686 | RHO | c.620T>G (p.Met207Arg) | ClinVar dbSNP |
| 3 | g.129532340T= | CA1401211196 | RHO | c.620T= (p.Met207=) | |
| 3 | g.129532341G>A | CA354469856 | RHO | c.621G>A (p.Met207Ile) | gnomAD v4 |
| 3 | g.129532341G>C | CA354469857 | RHO | c.621G>C (p.Met207Ile) | |
| 3 | g.129532341G>T | CA354469858 | RHO | c.621G>T (p.Met207Ile) | gnomAD v4 |
| 3 | g.129532342T>A | CA354469861 | RHO | c.622T>A (p.Phe208Ile) | COSMIC |
| 3 | g.129532342T>C | CA354469863 | RHO | c.622T>C (p.Phe208Leu) | |
| 3 | g.129532342T>G | CA354469860 | RHO | c.622T>G (p.Phe208Val) | |
| 3 | g.129532343T>A | CA354469868 | RHO | c.623T>A (p.Phe208Tyr) | |
| 3 | g.129532343T>C | CA354469865 | RHO | c.623T>C (p.Phe208Ser) | |
| 3 | g.129532343T>G | CA354469867 | RHO | c.623T>G (p.Phe208Cys) | dbSNP |
| 3 | g.129532344C>A | CA354469870 | RHO | c.624C>A (p.Phe208Leu) | gnomAD v4 |
| 3 | g.129532344C= | CA1401211202 | RHO | c.624C= (p.Phe208=) | |
| 3 | g.129532344C>G | CA2607223 | RHO | c.624C>G (p.Phe208Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532344C>T | CA2607222 | RHO | c.624C>T (p.Phe208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532345G>A | CA2607224 | RHO | c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532345G>C | CA354469872 | RHO | c.625G>C (p.Val209Leu) | |
| 3 | g.129532345G= | CA1401211210 | RHO | c.625G= (p.Val209=) | |
| 3 | g.129532345G>T | CA354469873 | RHO | c.625G>T (p.Val209Leu) | |
| 3 | g.129532346T>A | CA354469875 | RHO | c.626T>A (p.Val209Glu) | |
| 3 | g.129532346T>C | CA354469877 | RHO | c.626T>C (p.Val209Ala) | |
| 3 | g.129532346T>G | CA354469878 | RHO | c.626T>G (p.Val209Gly) | |
| 3 | g.129532347G>A | CA435768984 | RHO | c.627G>A (p.Val209=) | |
| 3 | g.129532347G>C | CA435768985 | RHO | c.627G>C (p.Val209=) | |
| 3 | g.129532347G= | CA1401211213 | RHO | c.627G= (p.Val209=) | |
| 3 | g.129532347G>T | CA435768986 | RHO | c.627G>T (p.Val209=) | dbSNP gnomAD v2 |
| 3 | g.129532348G>A | CA2607226 | RHO | c.628G>A (p.Val210Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532348G>C | CA354469881 | RHO | c.628G>C (p.Val210Leu) | |
| 3 | g.129532348G= | CA1401211218 | RHO | c.628G= (p.Val210=) | |
| 3 | g.129532348G>T | CA2607225 | RHO | c.628G>T (p.Val210Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532349T>A | CA354469883 | RHO | c.629T>A (p.Val210Asp) | |
| 3 | g.129532349T>C | CA354469884 | RHO | c.629T>C (p.Val210Ala) | |
| 3 | g.129532349T>G | CA354469886 | RHO | c.629T>G (p.Val210Gly) | |
| 3 | g.129532350C>A | CA435768992 | RHO | c.630C>A (p.Val210=) | |
| 3 | g.129532350C= | CA1401211223 | RHO | c.630C= (p.Val210=) | |
| 3 | g.129532350C>G | CA435768994 | RHO | c.630C>G (p.Val210=) | gnomAD v4 |
| 3 | g.129532350C>T | CA2607227 | RHO | c.630C>T (p.Val210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532351C>A | CA354469888 | RHO | c.631C>A (p.His211Asn) | |
| 3 | g.129532351C= | CA1401211228 | RHO | c.631C= (p.His211=) | |
| 3 | g.129532351C>G | CA354469890 | RHO | c.631C>G (p.His211Asp) | |
| 3 | g.129532351C>T | CA354469892 | RHO | c.631C>T (p.His211Tyr) | ClinVar dbSNP |
| 3 | g.129532352A= | CA1401211236 | RHO | c.632A= (p.His211=) | |
| 3 | g.129532352A>C | CA256674 | RHO | c.632A>C (p.His211Pro) | ClinVar dbSNP |
| 3 | g.129532352A>G | CA354469894 | RHO | c.632A>G (p.His211Arg) | ClinVar dbSNP |
| 3 | g.129532352A>T | CA354469895 | RHO | c.632A>T (p.His211Leu) | |
| 3 | g.129532353C>A | CA354469897 | RHO | c.633C>A (p.His211Gln) | |
| 3 | g.129532353C= | CA1401211242 | RHO | c.633C= (p.His211=) | |
| 3 | g.129532353C>G | CA354469899 | RHO | c.633C>G (p.His211Gln) | |
| 3 | g.129532353C>T | CA2607228 | RHO | c.633C>T (p.His211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532354T>A | CA354469902 | RHO | c.634T>A (p.Phe212Ile) | |
| 3 | g.129532354T>C | CA354469904 | RHO | c.634T>C (p.Phe212Leu) | |
| 3 | g.129532354T>G | CA354469901 | RHO | c.634T>G (p.Phe212Val) | |
| 3 | g.129532355T>A | CA354469906 | RHO | c.635T>A (p.Phe212Tyr) | |
| 3 | g.129532355T>C | CA354469907 | RHO | c.635T>C (p.Phe212Ser) | |
| 3 | g.129532355T>G | CA354469909 | RHO | c.635T>G (p.Phe212Cys) | |
| 3 | g.129532356C>A | CA354469911 | RHO | c.636C>A (p.Phe212Leu) | |
| 3 | g.129532356C>G | CA354469913 | RHO | c.636C>G (p.Phe212Leu) | |
| 3 | g.129532356C>T | CA435768998 | RHO | c.636C>T (p.Phe212=) | |
| 3 | g.129532357A>C | CA354469914 | RHO | c.637A>C (p.Thr213Pro) | |
| 3 | g.129532357A>G | CA354469916 | RHO | c.637A>G (p.Thr213Ala) | |
| 3 | g.129532357A>T | CA354469918 | RHO | c.637A>T (p.Thr213Ser) | |
| 3 | g.129532358C>A | CA354469920 | RHO | c.638C>A (p.Thr213Asn) | dbSNP |
| 3 | g.129532358C= | CA1401211246 | RHO | c.638C= (p.Thr213=) | |
| 3 | g.129532358C>G | CA354469921 | RHO | c.638C>G (p.Thr213Ser) | |
| 3 | g.129532358C>T | CA354469923 | RHO | c.638C>T (p.Thr213Ile) | dbSNP |
| 3 | g.129532359C>A | CA435769003 | RHO | c.639C>A (p.Thr213=) | |
| 3 | g.129532359C= | CA1401211249 | RHO | c.639C= (p.Thr213=) | |
| 3 | g.129532359C>G | CA82620540 | RHO | c.639C>G (p.Thr213=) | dbSNP |
| 3 | g.129532359C>T | CA435769004 | RHO | c.639C>T (p.Thr213=) | COSMIC |
| 3 | g.129532360A= | CA1401211251 | RHO | c.640A= (p.Ile214=) | |
| 3 | g.129532360A>C | CA354469925 | RHO | c.640A>C (p.Ile214Leu) | |
| 3 | g.129532360A>G | CA82620545 | RHO | c.640A>G (p.Ile214Val) | dbSNP |
| 3 | g.129532360A>T | CA354469926 | RHO | c.640A>T (p.Ile214Phe) | |
| 3 | g.129532361T>A | CA354469932 | RHO | c.641T>A (p.Ile214Asn) | ClinVar |
| 3 | g.129532361T>C | CA354469931 | RHO | c.641T>C (p.Ile214Thr) | gnomAD v4 |
| 3 | g.129532361T>G | CA354469929 | RHO | c.641T>G (p.Ile214Ser) | |
| 3 | g.129532361_129532362insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | CA2758361646 | RHO | c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG (p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisSerProSer) | |
| 3 | g.129532362C>A | CA2607229 | RHO | c.642C>A (p.Ile214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532362C= | CA1401211253 | RHO | c.642C= (p.Ile214=) | |
| 3 | g.129532362C>G | CA354469934 | RHO | c.642C>G (p.Ile214Met) | |
| 3 | g.129532362C>T | CA2607230 | RHO | c.642C>T (p.Ile214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532363C>A | CA354469937 | RHO | c.643C>A (p.Pro215Thr) | |
| 3 | g.129532363C>G | CA354469938 | RHO | c.643C>G (p.Pro215Ala) | ClinVar dbSNP |
| 3 | g.129532363C>T | CA354469939 | RHO | c.643C>T (p.Pro215Ser) | |
| 3 | g.129532364C>A | CA354469942 | RHO | c.644C>A (p.Pro215His) | |
| 3 | g.129532364C= | CA1401211255 | RHO | c.644C= (p.Pro215=) | |
| 3 | g.129532364C>G | CA354469943 | RHO | c.644C>G (p.Pro215Arg) | |
| 3 | g.129532364C>T | CA354469945 | RHO | c.644C>T (p.Pro215Leu) | ClinVar dbSNP |
| 3 | g.129532365C>A | CA435769005 | RHO | c.645C>A (p.Pro215=) | gnomAD v4 |
| 3 | g.129532365C>G | CA435769006 | RHO | c.645C>G (p.Pro215=) | gnomAD v4 |
| 3 | g.129532365C>T | CA435769007 | RHO | c.645C>T (p.Pro215=) | dbSNP |
| 3 | g.129532365_129532366delinsCA | CA1401211258 | RHO | c.645_646delinsCA (p.Pro215=) | |
| 3 | g.129532366del | CA2607231 | RHO | c.646del (p.Met216Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532366A= | CA1401211262 | RHO | c.646A= (p.Met216=) | |
| 3 | g.129532366A>C | CA354469947 | RHO | c.646A>C (p.Met216Leu) | |
| 3 | g.129532366A>G | CA354469949 | RHO | c.646A>G (p.Met216Val) | |
| 3 | g.129532366A>T | CA354469950 | RHO | c.646A>T (p.Met216Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532367T>A | CA354469952 | RHO | c.647T>A (p.Met216Lys) | ClinVar dbSNP |
| 3 | g.129532367T>C | CA354469955 | RHO | c.647T>C (p.Met216Thr) | |
| 3 | g.129532367T>G | CA82620557 | RHO | c.647T>G (p.Met216Arg) | ClinVar dbSNP |
| 3 | g.129532367T= | CA1401211267 | RHO | c.647T= (p.Met216=) | |
| 3 | g.129532368G>A | CA354469956 | RHO | c.648G>A (p.Met216Ile) | |
| 3 | g.129532368G>C | CA354469958 | RHO | c.648G>C (p.Met216Ile) | |
| 3 | g.129532368G>T | CA354469957 | RHO | c.648G>T (p.Met216Ile) | |
| 3 | g.129532369A= | CA1401211269 | RHO | c.649A= (p.Ile217=) | |
| 3 | g.129532369A>C | CA354469961 | RHO | c.649A>C (p.Ile217Leu) | |
| 3 | g.129532369A>G | CA354469964 | RHO | c.649A>G (p.Ile217Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532369A>T | CA354469962 | RHO | c.649A>T (p.Ile217Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532370T>A | CA354469965 | RHO | c.650T>A (p.Ile217Asn) | |
| 3 | g.129532370T>C | CA354469970 | RHO | c.650T>C (p.Ile217Thr) | |
| 3 | g.129532370T>G | CA354469968 | RHO | c.650T>G (p.Ile217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532370T= | CA1401211272 | RHO | c.650T= (p.Ile217=) | |
| 3 | g.129532372_129532379dup | CA2667616977 | RHO | c.652_659dup (p.Phe220LeufsTer?) | gnomAD v4 |