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