| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129530884G>A | CA354497881 | RHO | c.370G>A (p.Ala124Thr) | gnomAD v4 |
| 3 | g.129530884G>C | CA354497872 | RHO | c.370G>C (p.Ala124Pro) | |
| 3 | g.129530884G= | CA1401209202 | RHO | c.370G= (p.Ala124=) | |
| 3 | g.129530884G>T | CA354497883 | RHO | c.370G>T (p.Ala124Ser) | dbSNP COSMIC |
| 3 | g.129530885C>A | CA354497886 | RHO | c.371C>A (p.Ala124Asp) | |
| 3 | g.129530885C= | CA1401209206 | RHO | c.371C= (p.Ala124=) | |
| 3 | g.129530885C>G | CA354497888 | RHO | c.371C>G (p.Ala124Gly) | |
| 3 | g.129530885C>T | CA82648458 | RHO | c.371C>T (p.Ala124Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530886C>A | CA435643716 | RHO | c.372C>A (p.Ala124=) | |
| 3 | g.129530886C= | CA1401209209 | RHO | c.372C= (p.Ala124=) | |
| 3 | g.129530886C>G | CA435643717 | RHO | c.372C>G (p.Ala124=) | |
| 3 | g.129530886C>T | CA435643718 | RHO | c.372C>T (p.Ala124=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530887C>A | CA354497889 | RHO | c.373C>A (p.Leu125Met) | |
| 3 | g.129530887C>G | CA354497891 | RHO | c.373C>G (p.Leu125Val) | |
| 3 | g.129530887C>T | CA435643719 | RHO | c.373C>T (p.Leu125=) | |
| 3 | g.129530888T>A | CA354497893 | RHO | c.374T>A (p.Leu125Gln) | |
| 3 | g.129530888T>C | CA354497896 | RHO | c.374T>C (p.Leu125Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530888T>G | CA354497898 | RHO | c.374T>G (p.Leu125Arg) | ClinVar |
| 3 | g.129530888T= | CA1401209212 | RHO | c.374T= (p.Leu125=) | |
| 3 | g.129530889G>A | CA435643720 | RHO | c.375G>A (p.Leu125=) | |
| 3 | g.129530889G>C | CA435643721 | RHO | c.375G>C (p.Leu125=) | |
| 3 | g.129530889G>T | CA435643722 | RHO | c.375G>T (p.Leu125=) | |
| 3 | g.129530897_129530906del | CA2577961749 | RHO | c.383_392del (p.Leu128TrpfsTer13) | gnomAD v4 |
| 3 | g.129530890T>A | CA354497901 | RHO | c.376T>A (p.Trp126Arg) | |
| 3 | g.129530890T>C | CA354497907 | RHO | c.376T>C (p.Trp126Arg) | |
| 3 | g.129530890T>G | CA354497916 | RHO | c.376T>G (p.Trp126Gly) | |
| 3 | g.129530891G>A | CA354497918 | RHO | c.377G>A (p.Trp126Ter) | |
| 3 | g.129530891G>C | CA354497920 | RHO | c.377G>C (p.Trp126Ser) | |
| 3 | g.129530891G>T | CA354497921 | RHO | c.377G>T (p.Trp126Leu) | |
| 3 | g.129530892G>A | CA354497924 | RHO | c.378G>A (p.Trp126Ter) | |
| 3 | g.129530892G>C | CA354497925 | RHO | c.378G>C (p.Trp126Cys) | |
| 3 | g.129530892G>T | CA354497927 | RHO | c.378G>T (p.Trp126Cys) | |
| 3 | g.129530893T>A | CA354497932 | RHO | c.379T>A (p.Ser127Thr) | |
| 3 | g.129530893T>C | CA354497930 | RHO | c.379T>C (p.Ser127Pro) | |
| 3 | g.129530893T>G | CA354497928 | RHO | c.379T>G (p.Ser127Ala) | |
| 3 | g.129530894C>A | CA354497935 | RHO | c.380C>A (p.Ser127Tyr) | ClinVar |
| 3 | g.129530894C>G | CA354497936 | RHO | c.380C>G (p.Ser127Cys) | |
| 3 | g.129530894C>T | CA354497937 | RHO | c.380C>T (p.Ser127Phe) | ClinVar dbSNP |
| 3 | g.129530894_129530896delinsCCT | CA1401209216 | RHO | c.380_382delinsCCT (p.Ser127=) | |
| 3 | g.129530895C>A | CA435643723 | RHO | c.381C>A (p.Ser127=) | |
| 3 | g.129530895C= | CA1401209225 | RHO | c.381C= (p.Ser127=) | |
| 3 | g.129530895C>G | CA2607148 | RHO | c.381C>G (p.Ser127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530895C>T | CA2607149 | RHO | c.381C>T (p.Ser127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530895_129530896del | CA2607147 | RHO | c.381_382del (p.Leu128GlyfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530896T>A | CA354497941 | RHO | c.382T>A (p.Leu128Met) | |
| 3 | g.129530896T>C | CA435643726 | RHO | c.382T>C (p.Leu128=) | |
| 3 | g.129530896T>G | CA354497944 | RHO | c.382T>G (p.Leu128Val) | |
| 3 | g.129530896_129530899delinsTTGG | CA1401209234 | RHO | c.382_385delinsTTGG (p.Leu128=) | |
| 3 | g.129530897T>A | CA354497945 | RHO | c.383T>A (p.Leu128Ter) | |
| 3 | g.129530897T>C | CA354497948 | RHO | c.383T>C (p.Leu128Ser) |