| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129530862T>C | CA2667616110 | RHO | c.362-14T>C (n.362-14T>C) | gnomAD v4 |
| 3 | g.129530863G>C | CA2577961746 | RHO | c.362-13G>C (n.362-13G>C) | |
| 3 | g.129530864A= | CA1401209159 | RHO | c.362-12A= (n.362-12A=) | |
| 3 | g.129530864A>C | CA898751775 | RHO | c.362-12A>C (n.362-12A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530865C>A | CA2577961747 | RHO | c.362-11C>A (n.362-11C>A) | |
| 3 | g.129530865C= | CA1401209164 | RHO | c.362-11C= (n.362-11C=) | |
| 3 | g.129530865C>T | CA82648441 | RHO | c.362-11C>T (n.362-11C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530865_129530866delinsAA | CA2697556846 | RHO | c.362-11_362-10delinsAA (n.362-11_362-10delinsAA) | ClinVar |
| 3 | g.129530866T>A | CA2577961748 | RHO | c.362-10T>A (n.362-10T>A) | gnomAD v4 |
| 3 | g.129530866T>C | CA2607141 | RHO | c.362-10T>C (n.362-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530866T= | CA1401209169 | RHO | c.362-10T= (n.362-10T=) | |
| 3 | g.129530867G>A | CA2607142 | RHO | c.362-9G>A (n.362-9G>A) | dbSNP ExAC gnomAD v4 |
| 3 | g.129530867G= | CA1401209173 | RHO | c.362-9G= (n.362-9G=) | |
| 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 |