Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129528783C>A | CA354495380 | RHO | c.50C>A (p.Thr17Lys) | ClinVar dbSNP |
3 | g.129528783C= | CA1401205042 | RHO | c.50C= (p.Thr17=) | |
3 | g.129528783C>G | CA354495381 | RHO | c.50C>G (p.Thr17Arg) | |
3 | g.129528783C>T | CA256665 | RHO | c.50C>T (p.Thr17Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129528784G>A | CA2607045 | RHO | c.51G>A (p.Thr17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.129528784G>C | CA2607046 | RHO | c.51G>C (p.Thr17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528784G= | CA1401205049 | RHO | c.51G= (p.Thr17=) | |
3 | g.129528784G>T | CA435768861 | RHO | c.51G>T (p.Thr17=) | dbSNP |
3 | g.129528785G>A | CA354495385 | RHO | c.52G>A (p.Gly18Ser) | dbSNP gnomAD v4 |
3 | g.129528785G>C | CA354495389 | RHO | c.52G>C (p.Gly18Arg) | |
3 | g.129528785G>T | CA354495391 | RHO | c.52G>T (p.Gly18Cys) | gnomAD v4 |
3 | g.129528786G>A | CA2607047 | RHO | c.53G>A (p.Gly18Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528786G>C | CA2607048 | RHO | c.53G>C (p.Gly18Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129528786G= | CA1401205059 | RHO | c.53G= (p.Gly18=) | |
3 | g.129528786G>T | CA354495405 | RHO | c.53G>T (p.Gly18Val) | ClinVar dbSNP |
3 | g.129528787T>A | CA435768862 | RHO | c.54T>A (p.Gly18=) | |
3 | g.129528787T>C | CA435768863 | RHO | c.54T>C (p.Gly18=) | dbSNP |
3 | g.129528787T>G | CA435768864 | RHO | c.54T>G (p.Gly18=) | dbSNP gnomAD v4 |
3 | g.129528787T= | CA1401205069 | RHO | c.54T= (p.Gly18=) | |
3 | g.129528788G>A | CA354495407 | RHO | c.55G>A (p.Val19Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.129528788G>C | CA354495424 | RHO | c.55G>C (p.Val19Leu) | |
3 | g.129528788G= | CA1401205074 | RHO | c.55G= (p.Val19=) | |
3 | g.129528788G>T | CA354495416 | RHO | c.55G>T (p.Val19Leu) | |
3 | g.129528789T>A | CA354495426 | RHO | c.56T>A (p.Val19Glu) | |
3 | g.129528789T>C | CA354495430 | RHO | c.56T>C (p.Val19Ala) | |
3 | g.129528789T>G | CA354495432 | RHO | c.56T>G (p.Val19Gly) | |
3 | g.129528790G>A | CA2607049 | RHO | c.57G>A (p.Val19=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129528790G>C | CA435768865 | RHO | c.57G>C (p.Val19=) | |
3 | g.129528790G= | CA1401205082 | RHO | c.57G= (p.Val19=) | |
3 | g.129528790G>T | CA435768866 | RHO | c.57G>T (p.Val19=) | |
3 | g.129528791G>A | CA2607050 | RHO | c.58G>A (p.Val20Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528791G>C | CA354495445 | RHO | c.58G>C (p.Val20Leu) | ClinVar |
3 | g.129528791G= | CA1401205090 | RHO | c.58G= (p.Val20=) | |
3 | g.129528791G>T | CA354495443 | RHO | c.58G>T (p.Val20Leu) | |
3 | g.129528792T>A | CA354495447 | RHO | c.59T>A (p.Val20Glu) | |
3 | g.129528792T>C | CA2607051 | RHO | c.59T>C (p.Val20Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129528792T>G | CA354495450 | RHO | c.59T>G (p.Val20Gly) | |
3 | g.129528792T= | CA1401205097 | RHO | c.59T= (p.Val20=) | |
3 | g.129528793A= | CA1401205103 | RHO | c.60A= (p.Val20=) | |
3 | g.129528793A>C | CA435768867 | RHO | c.60A>C (p.Val20=) | |
3 | g.129528793A>G | CA435768868 | RHO | c.60A>G (p.Val20=) | dbSNP gnomAD v4 |
3 | g.129528793A>T | CA435768869 | RHO | c.60A>T (p.Val20=) | |
3 | g.129528794C>A | CA354495451 | RHO | c.61C>A (p.Arg21Ser) | |
3 | g.129528794C= | CA1401205110 | RHO | c.61C= (p.Arg21=) | |
3 | g.129528794C>G | CA354495452 | RHO | c.61C>G (p.Arg21Gly) | |
3 | g.129528794C>T | CA354495454 | RHO | c.61C>T (p.Arg21Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.129528795G>A | CA2607052 | RHO | c.62G>A (p.Arg21His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528795G>C | CA354495457 | RHO | c.62G>C (p.Arg21Pro) | ClinVar |
3 | g.129528795G= | CA1401205120 | RHO | c.62G= (p.Arg21=) | |
3 | g.129528795G>T | CA354495461 | RHO | c.62G>T (p.Arg21Leu) | gnomAD v4 |