Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129530879A= | CA1401209195 | RHO | c.365A= (p.Glu122=) | |
3 | g.129530879A>C | CA354497843 | RHO | c.365A>C (p.Glu122Ala) | |
3 | g.129530879A>G | CA2607146 | RHO | c.365A>G (p.Glu122Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129530879A>T | CA354497846 | RHO | c.365A>T (p.Glu122Val) | |
3 | g.129530880A= | CA1401209199 | RHO | c.366A= (p.Glu122=) | |
3 | g.129530880A>C | CA354497849 | RHO | c.366A>C (p.Glu122Asp) | |
3 | g.129530880A>G | CA435643713 | RHO | c.366A>G (p.Glu122=) | dbSNP gnomAD v4 |
3 | g.129530880A>T | CA354497851 | RHO | c.366A>T (p.Glu122Asp) | |
3 | g.129530881A>C | CA354497854 | RHO | c.367A>C (p.Ile123Leu) | |
3 | g.129530881A>G | CA354497855 | RHO | c.367A>G (p.Ile123Val) | |
3 | g.129530881A>T | CA354497858 | RHO | c.367A>T (p.Ile123Phe) | |
3 | g.129530882T>A | CA354497860 | RHO | c.368T>A (p.Ile123Asn) | |
3 | g.129530882T>C | CA354497862 | RHO | c.368T>C (p.Ile123Thr) | gnomAD v4 |
3 | g.129530882T>G | CA354497864 | RHO | c.368T>G (p.Ile123Ser) | |
3 | g.129530883T>A | CA435643714 | RHO | c.369T>A (p.Ile123=) | |
3 | g.129530883T>C | CA435643715 | RHO | c.369T>C (p.Ile123=) | gnomAD v4 |
3 | g.129530883T>G | CA354497867 | RHO | c.369T>G (p.Ile123Met) | |
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) |