Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129528969T>A | CA354496442 | RHO | c.236T>A (p.Leu79Gln) | |
3 | g.129528969T>C | CA354496443 | RHO | c.236T>C (p.Leu79Pro) | |
3 | g.129528969T>G | CA354496447 | RHO | c.236T>G (p.Leu79Arg) | |
3 | g.129528970A>C | CA435768677 | RHO | c.237A>C (p.Leu79=) | ClinVar dbSNP gnomAD v4 |
3 | g.129528970A>G | CA435768678 | RHO | c.237A>G (p.Leu79=) | dbSNP |
3 | g.129528970A>T | CA435768679 | RHO | c.237A>T (p.Leu79=) | |
3 | g.129528971G>A | CA354496448 | RHO | c.238G>A (p.Ala80Thr) | gnomAD v4 |
3 | g.129528971G>C | CA354496450 | RHO | c.238G>C (p.Ala80Pro) | |
3 | g.129528971G= | CA1401205744 | RHO | c.238G= (p.Ala80=) | |
3 | g.129528971G>T | CA354496452 | RHO | c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528972C>A | CA354496469 | RHO | c.239C>A (p.Ala80Asp) | |
3 | g.129528972C>G | CA354496470 | RHO | c.239C>G (p.Ala80Gly) | |
3 | g.129528972C>T | CA354496471 | RHO | c.239C>T (p.Ala80Val) | |
3 | g.129528973C>A | CA435768682 | RHO | c.240C>A (p.Ala80=) | |
3 | g.129528973C= | CA1401205752 | RHO | c.240C= (p.Ala80=) | |
3 | g.129528973C>G | CA2607094 | RHO | c.240C>G (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528973C>T | CA82646936 | RHO | c.240C>T (p.Ala80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129528973_129528976delinsCGTG | CA1401205750 | RHO | c.240_243delinsCGTG (p.Ala80=) | |
3 | g.129528974G>A | CA2607095 | RHO | c.241G>A (p.Val81Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528974G>C | CA354496473 | RHO | c.241G>C (p.Val81Leu) | |
3 | g.129528974G= | CA1401205758 | RHO | c.241G= (p.Val81=) | |
3 | g.129528974G>T | CA354496474 | RHO | c.241G>T (p.Val81Leu) | |
3 | g.129528975_129528977del | CA1401205766 | RHO | c.242_244del (p.Val81del) | ClinVar dbSNP |
3 | g.129528975T>A | CA354496476 | RHO | c.242T>A (p.Val81Glu) | |
3 | g.129528975T>C | CA2607096 | RHO | c.242T>C (p.Val81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129528975T>G | CA354496485 | RHO | c.242T>G (p.Val81Gly) | |
3 | g.129528975T= | CA1401205774 | RHO | c.242T= (p.Val81=) | |
3 | g.129528976G>A | CA435768688 | RHO | c.243G>A (p.Val81=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.129528976G>C | CA435768689 | RHO | c.243G>C (p.Val81=) | |
3 | g.129528976G= | CA1401205788 | RHO | c.243G= (p.Val81=) | |
3 | g.129528976G>T | CA435768690 | RHO | c.243G>T (p.Val81=) | |
3 | g.129528977G>A | CA354496487 | RHO | c.244G>A (p.Ala82Thr) | |
3 | g.129528977G>C | CA354496497 | RHO | c.244G>C (p.Ala82Pro) | |
3 | g.129528977G>T | CA354496496 | RHO | c.244G>T (p.Ala82Ser) | |
3 | g.129528978C>A | CA354496502 | RHO | c.245C>A (p.Ala82Asp) | |
3 | g.129528978C= | CA1401205793 | RHO | c.245C= (p.Ala82=) | |
3 | g.129528978C>G | CA354496503 | RHO | c.245C>G (p.Ala82Gly) | dbSNP |
3 | g.129528978C>T | CA82646946 | RHO | c.245C>T (p.Ala82Val) | dbSNP |
3 | g.129528979T>A | CA435768694 | RHO | c.246T>A (p.Ala82=) | |
3 | g.129528979T>C | CA2607097 | RHO | c.246T>C (p.Ala82=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528979T>G | CA435768696 | RHO | c.246T>G (p.Ala82=) | |
3 | g.129528979T= | CA1401205797 | RHO | c.246T= (p.Ala82=) | |
3 | g.129528980G>A | CA354496504 | RHO | c.247G>A (p.Asp83Asn) | dbSNP |
3 | g.129528980G>C | CA354496505 | RHO | c.247G>C (p.Asp83His) | COSMIC |
3 | g.129528980G= | CA1401205813 | RHO | c.247G= (p.Asp83=) | |
3 | g.129528980G>T | CA354496506 | RHO | c.247G>T (p.Asp83Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129528981A= | CA1401205820 | RHO | c.248A= (p.Asp83=) | |
3 | g.129528981A>C | CA354496508 | RHO | c.248A>C (p.Asp83Ala) | |
3 | g.129528981A>G | CA354496516 | RHO | c.248A>G (p.Asp83Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129528981A>T | CA354496518 | RHO | c.248A>T (p.Asp83Val) |