Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154187846G>A | CA519716264 | OPN1MW | c.189G>A (p.Val63=) n.199G>A | |
X | g.154187846G>C | CA519716265 | OPN1MW | c.189G>C (p.Val63=) n.199G>C | |
X | g.154187846G>T | CA519716266 | OPN1MW | c.189G>T (p.Val63=) n.199G>T | |
X | g.154187847del | CA2695106846 | OPN1MW | c.190del (p.Val64SerfsTer16) n.200del | gnomAD v4 |
X | g.154187847G>A | CA415312713 | OPN1MW | c.190G>A (p.Val64Ile) n.200G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.154187847G>C | CA415312715 | OPN1MW | c.190G>C (p.Val64Leu) n.200G>C | |
X | g.154187847G= | CA2466617154 | OPN1MW | c.190G= (p.Val64=) n.200G= | |
X | g.154187847G>T | CA415312718 | OPN1MW | c.190G>T (p.Val64Phe) n.200G>T | |
X | g.154187848T>A | CA415312722 | OPN1MW | c.191T>A (p.Val64Asp) n.201T>A | |
X | g.154187848T>C | CA415312724 | OPN1MW | c.191T>C (p.Val64Ala) n.201T>C | |
X | g.154187848T>G | CA415312725 | OPN1MW | c.191T>G (p.Val64Gly) n.201T>G | |
X | g.154187849C>A | CA519716272 | OPN1MW | c.192C>A (p.Val64=) n.202C>A | gnomAD v4 |
X | g.154187849C>G | CA519716271 | OPN1MW | c.192C>G (p.Val64=) n.202C>G | |
X | g.154187849C>T | CA519716270 | OPN1MW | c.192C>T (p.Val64=) n.202C>T | |
X | g.154187850A>C | CA415312726 | OPN1MW | c.193A>C (p.Ile65Leu) n.203A>C | |
X | g.154187850A>G | CA415312728 | OPN1MW | c.193A>G (p.Ile65Val) n.203A>G | |
X | g.154187850A>T | CA415312730 | OPN1MW | c.193A>T (p.Ile65Phe) n.203A>T | |
X | g.154187851T>A | CA415312736 | OPN1MW | c.194T>A (p.Ile65Asn) n.204T>A | |
X | g.154187851T>C | CA415312734 | OPN1MW | c.194T>C (p.Ile65Thr) n.204T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154187851T>G | CA415312732 | OPN1MW | c.194T>G (p.Ile65Ser) n.204T>G | dbSNP gnomAD v4 |
X | g.154187851T= | CA2466617155 | OPN1MW | c.194T= (p.Ile65=) n.204T= | |
X | g.154187852T>A | CA519716274 | OPN1MW | c.195T>A (p.Ile65=) n.205T>A | |
X | g.154187852T>C | CA519716275 | OPN1MW | c.195T>C (p.Ile65=) n.205T>C | |
X | g.154187852T>G | CA415312738 | OPN1MW | c.195T>G (p.Ile65Met) n.205T>G | |
X | g.154187853G>A | CA415312739 | OPN1MW | c.196G>A (p.Ala66Thr) n.206G>A | |
X | g.154187853G>C | CA415312740 | OPN1MW | c.196G>C (p.Ala66Pro) n.206G>C | |
X | g.154187853G= | CA2466617156 | OPN1MW | c.196G= (p.Ala66=) n.206G= | |
X | g.154187853G>T | CA415312742 | OPN1MW | c.196G>T (p.Ala66Ser) n.206G>T | dbSNP |
X | g.154187854C>A | CA415312744 | OPN1MW | c.197C>A (p.Ala66Glu) n.207C>A | |
X | g.154187854C>G | CA415312746 | OPN1MW | c.197C>G (p.Ala66Gly) n.207C>G | |
X | g.154187854C>T | CA415312747 | OPN1MW | c.197C>T (p.Ala66Val) n.207C>T | |
X | g.154187855A>C | CA519716277 | OPN1MW | c.198A>C (p.Ala66=) n.208A>C | |
X | g.154187855A>G | CA519716278 | OPN1MW | c.198A>G (p.Ala66=) n.208A>G | |
X | g.154187855A>T | CA519716280 | OPN1MW | c.198A>T (p.Ala66=) n.208A>T | |
X | g.154187856T>A | CA415312748 | OPN1MW | c.199T>A (p.Ser67Thr) n.209T>A | |
X | g.154187856T>C | CA415312749 | OPN1MW | c.199T>C (p.Ser67Pro) n.209T>C | |
X | g.154187856T>G | CA415312751 | OPN1MW | c.199T>G (p.Ser67Ala) n.209T>G | |
X | g.154187857C>A | CA415312752 | OPN1MW | c.200C>A (p.Ser67Tyr) n.210C>A | |
X | g.154187857C>G | CA415312753 | OPN1MW | c.200C>G (p.Ser67Cys) n.210C>G | |
X | g.154187857C>T | CA415312754 | OPN1MW | c.200C>T (p.Ser67Phe) n.210C>T | |
X | g.154187858C>A | CA519716281 | OPN1MW | c.201C>A (p.Ser67=) n.211C>A | |
X | g.154187858C>G | CA519716283 | OPN1MW | c.201C>G (p.Ser67=) n.211C>G | |
X | g.154187858C>T | CA519716285 | OPN1MW | c.201C>T (p.Ser67=) n.211C>T | gnomAD v4 |
X | g.154187859G>A | CA415312756 | OPN1MW | c.202G>A (p.Val68Ile) n.212G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.154187859G>C | CA415312758 | OPN1MW | c.202G>C (p.Val68Leu) n.212G>C | |
X | g.154187859G= | CA2466617157 | OPN1MW | c.202G= (p.Val68=) n.212G= | |
X | g.154187859G>T | CA415312755 | OPN1MW | c.202G>T (p.Val68Phe) n.212G>T | |
X | g.154187860T>A | CA415312760 | OPN1MW | c.203T>A (p.Val68Asp) n.213T>A | |
X | g.154187860T>C | CA415312762 | OPN1MW | c.203T>C (p.Val68Ala) n.213T>C | |
X | g.154187860T>G | CA415312763 | OPN1MW | c.203T>G (p.Val68Gly) n.213T>G |