Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129530868C>A | CA2607143 | RHO | c.362-8C>A (n.362-8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129530868C= | CA1401209176 | RHO | c.362-8C= (n.362-8C=) | |
3 | g.129530872G>A | CA2667616112 | RHO | c.362-4G>A (n.362-4G>A) | gnomAD v4 |
3 | g.129530873C>A | CA2667616113 | RHO | c.362-3C>A (n.362-3C>A) | gnomAD v4 |
3 | g.129530873C= | CA1401209179 | RHO | c.362-3C= (n.362-3C=) | |
3 | g.129530873C>T | CA2607144 | RHO | c.362-3C>T (n.362-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129530874A>C | CA354497817 | RHO | c.362-2A>C (n.362-2A>C) | |
3 | g.129530874A>G | CA354497815 | RHO | c.362-2A>G (n.362-2A>G) | gnomAD v4 |
3 | g.129530874A>T | CA354497813 | RHO | c.362-2A>T (n.362-2A>T) | |
3 | g.129530875G>A | CA354497820 | RHO | c.362-1G>A (n.362-1G>A) | dbSNP |
3 | g.129530875G>C | CA354497823 | RHO | c.362-1G>C (n.362-1G>C) | |
3 | g.129530875G= | CA1401209182 | RHO | c.362-1G= (n.362-1G=) | |
3 | g.129530875G>T | CA354497825 | RHO | c.362-1G>T (n.362-1G>T) | |
3 | g.129530876G>A | CA354497828 | RHO | c.362G>A (p.Gly121Asp) | |
3 | g.129530876G>C | CA354497832 | RHO | c.362G>C (p.Gly121Ala) | |
3 | g.129530876G= | CA1401209185 | RHO | c.362G= (p.Gly121=) | |
3 | g.129530876G>T | CA354497833 | RHO | c.362G>T (p.Gly121Val) | ClinVar dbSNP gnomAD v4 |
3 | g.129530877T>A | CA435643710 | RHO | c.363T>A (p.Gly121=) | |
3 | g.129530877T>C | CA435643711 | RHO | c.363T>C (p.Gly121=) | |
3 | g.129530877T>G | CA435643712 | RHO | c.363T>G (p.Gly121=) | |
3 | g.129530878G>A | CA2607145 | RHO | c.364G>A (p.Glu122Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129530878G>C | CA354497836 | RHO | c.364G>C (p.Glu122Gln) | |
3 | g.129530878G= | CA1401209190 | RHO | c.364G= (p.Glu122=) | |
3 | g.129530878G>T | CA354497834 | RHO | c.364G>T (p.Glu122Ter) | ClinVar |
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=) |