Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?) | ClinVar dbSNP |
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) |