Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532386C>A | CA354470026 | RHO | c.666C>A (p.Cys222Ter) | |
3 | g.129532386C>G | CA354470028 | RHO | c.666C>G (p.Cys222Trp) | |
3 | g.129532386C>T | CA435769016 | RHO | c.666C>T (p.Cys222=) | |
3 | g.129532387T>A | CA354470030 | RHO | c.667T>A (p.Tyr223Asn) | |
3 | g.129532387T>C | CA354470033 | RHO | c.667T>C (p.Tyr223His) | |
3 | g.129532387T>G | CA354470031 | RHO | c.667T>G (p.Tyr223Asp) | |
3 | g.129532388A>C | CA354470034 | RHO | c.668A>C (p.Tyr223Ser) | |
3 | g.129532388A>G | CA354470036 | RHO | c.668A>G (p.Tyr223Cys) | |
3 | g.129532388A>T | CA354470037 | RHO | c.668A>T (p.Tyr223Phe) | |
3 | g.129532389T>A | CA354470038 | RHO | c.669T>A (p.Tyr223Ter) | |
3 | g.129532389T>C | CA435769017 | RHO | c.669T>C (p.Tyr223=) | gnomAD v4 |
3 | g.129532389T>G | CA354470039 | RHO | c.669T>G (p.Tyr223Ter) | |
3 | g.129532390G>A | CA354470040 | RHO | c.670G>A (p.Gly224Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532390G>C | CA2607234 | RHO | c.670G>C (p.Gly224Arg) | dbSNP ExAC gnomAD v2 COSMIC |
3 | g.129532390G= | CA1401211280 | RHO | c.670G= (p.Gly224=) | |
3 | g.129532390G>T | CA354470042 | RHO | c.670G>T (p.Gly224Trp) | |
3 | g.129532391G>A | CA2607235 | RHO | c.671G>A (p.Gly224Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532391G>C | CA354470044 | RHO | c.671G>C (p.Gly224Ala) | |
3 | g.129532391G= | CA1401211282 | RHO | c.671G= (p.Gly224=) | |
3 | g.129532391G>T | CA354470045 | RHO | c.671G>T (p.Gly224Val) | |
3 | g.129532392G>A | CA435769018 | RHO | c.672G>A (p.Gly224=) | |
3 | g.129532392G>C | CA435769019 | RHO | c.672G>C (p.Gly224=) | |
3 | g.129532392G>T | CA435769020 | RHO | c.672G>T (p.Gly224=) | |
3 | g.129532393C>A | CA354470050 | RHO | c.673C>A (p.Gln225Lys) | gnomAD v4 |
3 | g.129532393C= | CA1401211285 | RHO | c.673C= (p.Gln225=) | |
3 | g.129532393C>G | CA354470048 | RHO | c.673C>G (p.Gln225Glu) | |
3 | g.129532393C>T | CA2607236 | RHO | c.673C>T (p.Gln225Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129532394A>C | CA354470051 | RHO | c.674A>C (p.Gln225Pro) | |
3 | g.129532394A>G | CA354470053 | RHO | c.674A>G (p.Gln225Arg) | |
3 | g.129532394A>T | CA354470054 | RHO | c.674A>T (p.Gln225Leu) | |
3 | g.129532395G>A | CA435769021 | RHO | c.675G>A (p.Gln225=) | gnomAD v4 |
3 | g.129532395G>C | CA354470055 | RHO | c.675G>C (p.Gln225His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532395G= | CA1401211288 | RHO | c.675G= (p.Gln225=) | |
3 | g.129532395G>T | CA354470056 | RHO | c.675G>T (p.Gln225His) | |
3 | g.129532396C>A | CA354470057 | RHO | c.676C>A (p.Leu226Ile) | |
3 | g.129532396C>G | CA354470059 | RHO | c.676C>G (p.Leu226Val) | |
3 | g.129532396C>T | CA354470060 | RHO | c.676C>T (p.Leu226Phe) | |
3 | g.129532397T>A | CA354470062 | RHO | c.677T>A (p.Leu226His) | |
3 | g.129532397T>C | CA354470065 | RHO | c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
3 | g.129532397T>G | CA354470064 | RHO | c.677T>G (p.Leu226Arg) | |
3 | g.129532397T= | CA1401211290 | RHO | c.677T= (p.Leu226=) | |
3 | g.129532398C>A | CA435769022 | RHO | c.678C>A (p.Leu226=) | |
3 | g.129532398C= | CA1401211293 | RHO | c.678C= (p.Leu226=) | |
3 | g.129532398C>G | CA82620581 | RHO | c.678C>G (p.Leu226=) | dbSNP |
3 | g.129532398C>T | CA2607237 | RHO | c.678C>T (p.Leu226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.129532399G>A | CA2607238 | RHO | c.679G>A (p.Val227Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532399G>C | CA354470069 | RHO | c.679G>C (p.Val227Leu) | |
3 | g.129532399G= | CA1401211296 | RHO | c.679G= (p.Val227=) | |
3 | g.129532399G>T | CA354470070 | RHO | c.679G>T (p.Val227Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532400T>A | CA354470072 | RHO | c.680T>A (p.Val227Asp) |