Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129529073G>A | CA354496961 | RHO | c.340G>A (p.Gly114Ser) | |
3 | g.129529073G>C | CA354496959 | RHO | c.340G>C (p.Gly114Arg) | |
3 | g.129529073G>T | CA354496958 | RHO | c.340G>T (p.Gly114Cys) | |
3 | g.129529074G>A | CA256688 | RHO | c.341G>A (p.Gly114Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.129529074G>C | CA2607114 | RHO | c.341G>C (p.Gly114Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129529074G= | CA1401206183 | RHO | c.341G= (p.Gly114=) | |
3 | g.129529074G>T | CA354496965 | RHO | c.341G>T (p.Gly114Val) | ClinVar dbSNP |
3 | g.129529075C>A | CA435768827 | RHO | c.342C>A (p.Gly114=) | |
3 | g.129529075C= | CA1401206190 | RHO | c.342C= (p.Gly114=) | |
3 | g.129529075C>G | CA435768828 | RHO | c.342C>G (p.Gly114=) | |
3 | g.129529075C>T | CA435768829 | RHO | c.342C>T (p.Gly114=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129529076T>A | CA354496967 | RHO | c.343T>A (p.Phe115Ile) | |
3 | g.129529076T>C | CA354496969 | RHO | c.343T>C (p.Phe115Leu) | |
3 | g.129529076T>G | CA354496970 | RHO | c.343T>G (p.Phe115Val) | |
3 | g.129529077T>A | CA354496971 | RHO | c.344T>A (p.Phe115Tyr) | |
3 | g.129529077T>C | CA354496976 | RHO | c.344T>C (p.Phe115Ser) | |
3 | g.129529077T>G | CA354496974 | RHO | c.344T>G (p.Phe115Cys) | |
3 | g.129529078C>A | CA354496979 | RHO | c.345C>A (p.Phe115Leu) | |
3 | g.129529078C= | CA1401206202 | RHO | c.345C= (p.Phe115=) | |
3 | g.129529078C>G | CA354496980 | RHO | c.345C>G (p.Phe115Leu) | |
3 | g.129529078C>T | CA435768833 | RHO | c.345C>T (p.Phe115=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129529079T>A | CA354496981 | RHO | c.346T>A (p.Phe116Ile) | |
3 | g.129529079T>C | CA354496984 | RHO | c.346T>C (p.Phe116Leu) | |
3 | g.129529079T>G | CA354496985 | RHO | c.346T>G (p.Phe116Val) | |
3 | g.129529080T>A | CA2607115 | RHO | c.347T>A (p.Phe116Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129529080T>C | CA354496988 | RHO | c.347T>C (p.Phe116Ser) | |
3 | g.129529080T>G | CA354496991 | RHO | c.347T>G (p.Phe116Cys) | |
3 | g.129529080T= | CA1401206208 | RHO | c.347T= (p.Phe116=) | |
3 | g.129529081T>A | CA354496992 | RHO | c.348T>A (p.Phe116Leu) | |
3 | g.129529081T>C | CA435768835 | RHO | c.348T>C (p.Phe116=) | |
3 | g.129529081T>G | CA354496994 | RHO | c.348T>G (p.Phe116Leu) | |
3 | g.129529082G>A | CA354497001 | RHO | c.349G>A (p.Ala117Thr) | |
3 | g.129529082G>C | CA354496999 | RHO | c.349G>C (p.Ala117Pro) | |
3 | g.129529082G>T | CA354496996 | RHO | c.349G>T (p.Ala117Ser) | |
3 | g.129529083C>A | CA354497002 | RHO | c.350C>A (p.Ala117Asp) | |
3 | g.129529083C>G | CA354497003 | RHO | c.350C>G (p.Ala117Gly) | |
3 | g.129529083C>T | CA354497004 | RHO | c.350C>T (p.Ala117Val) | gnomAD v4 |
3 | g.129529084C>A | CA435768840 | RHO | c.351C>A (p.Ala117=) | |
3 | g.129529084C= | CA1401206219 | RHO | c.351C= (p.Ala117=) | |
3 | g.129529084C>G | CA435768841 | RHO | c.351C>G (p.Ala117=) | |
3 | g.129529084C>T | CA435768842 | RHO | c.351C>T (p.Ala117=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129529084_129529096delinsCACCCTGGGCGGT | CA1401206216 | RHO | c.351_361+2delinsCACCCTGGGCGGT | |
3 | g.129529085A>C | CA354497007 | RHO | c.352A>C (p.Thr118Pro) | |
3 | g.129529085A>G | CA354497008 | RHO | c.352A>G (p.Thr118Ala) | |
3 | g.129529085A>T | CA354497009 | RHO | c.352A>T (p.Thr118Ser) | |
3 | g.129529086_129529097del | CA1139655816 | RHO | c.353_361+3del | ClinVar dbSNP |
3 | g.129529086C>A | CA354497014 | RHO | c.353C>A (p.Thr118Asn) | gnomAD v4 |
3 | g.129529086C>G | CA354497013 | RHO | c.353C>G (p.Thr118Ser) | |
3 | g.129529086C>T | CA354497011 | RHO | c.353C>T (p.Thr118Ile) | gnomAD v4 COSMIC |
3 | g.129529086_129529087insACTTGGAGGTGAAATCGCCCTGTGGTC | CA2704008115 | RHO | c.353_354insACTTGGAGGTGAAATCGCCCTGTGGTC (p.Thr118_Leu119insLeuGlyGlyGluIleAlaLeuTrpSer) | dbSNP |