Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154191716T>A | CA415314685 | OPN1MW | c.607T>A (p.Cys203Ser) n.588+1494T>A c.194T>A | |
X | g.154191716T>C | CA121106 | OPN1MW | c.607T>C (p.Cys203Arg) n.588+1494T>C c.194T>C | ClinVar dbSNP gnomAD v4 |
X | g.154191716T>G | CA415314686 | OPN1MW | c.607T>G (p.Cys203Gly) n.588+1494T>G c.194T>G | |
X | g.154191716T= | CA2466617966 | OPN1MW | c.607T= (p.Cys203=) n.588+1494T= c.194T= | |
X | g.154191717G>A | CA415314687 | OPN1MW | c.608G>A (p.Cys203Tyr) n.588+1495G>A c.195G>A | |
X | g.154191717G>C | CA415314688 | OPN1MW | c.608G>C (p.Cys203Ser) n.588+1495G>C c.195G>C | |
X | g.154191717G>T | CA415314689 | OPN1MW | c.608G>T (p.Cys203Phe) n.588+1495G>T c.195G>T | |
X | g.154191718C>A | CA415314690 | OPN1MW | c.609C>A (p.Cys203Ter) n.588+1496C>A c.196C>A | |
X | g.154191718C>G | CA415314691 | OPN1MW | c.609C>G (p.Cys203Trp) n.588+1496C>G c.196C>G | |
X | g.154191718C>T | CA519334837 | OPN1MW | c.609C>T (p.Cys203=) n.588+1496C>T c.196C>T | gnomAD v4 |
X | g.154191719G>A | CA415314692 | OPN1MW | c.610G>A (p.Gly204Ser) n.588+1497G>A c.197G>A | gnomAD v4 |
X | g.154191719G>C | CA415314693 | OPN1MW | c.610G>C (p.Gly204Arg) n.588+1497G>C c.197G>C | |
X | g.154191719G>T | CA415314694 | OPN1MW | c.610G>T (p.Gly204Cys) n.588+1497G>T c.197G>T | |
X | g.154191720G>A | CA415314695 | OPN1MW | c.611G>A (p.Gly204Asp) n.588+1498G>A c.198G>A | |
X | g.154191720G>C | CA415314696 | OPN1MW | c.611G>C (p.Gly204Ala) n.588+1498G>C c.198G>C | |
X | g.154191720G>T | CA415314697 | OPN1MW | c.611G>T (p.Gly204Val) n.588+1498G>T c.198G>T | |
X | g.154191721C>A | CA519334847 | OPN1MW | c.612C>A (p.Gly204=) n.588+1499C>A c.199C>A | gnomAD v4 |
X | g.154191721C>G | CA519334848 | OPN1MW | c.612C>G (p.Gly204=) n.588+1499C>G c.199C>G | |
X | g.154191721C>T | CA519334849 | OPN1MW | c.612C>T (p.Gly204=) n.588+1499C>T c.199C>T | |
X | g.154191722C>A | CA415314698 | OPN1MW | c.613C>A (p.Pro205Thr) n.588+1500C>A c.200C>A | |
X | g.154191722C>G | CA415314700 | OPN1MW | c.613C>G (p.Pro205Ala) n.588+1500C>G c.200C>G | |
X | g.154191722C>T | CA415314699 | OPN1MW | c.613C>T (p.Pro205Ser) n.588+1500C>T c.200C>T | |
X | g.154191723C>A | CA415314701 | OPN1MW | c.614C>A (p.Pro205Gln) n.588+1501C>A c.201C>A | |
X | g.154191723C>G | CA415314702 | OPN1MW | c.614C>G (p.Pro205Arg) n.588+1501C>G c.201C>G | |
X | g.154191723C>T | CA415314703 | OPN1MW | c.614C>T (p.Pro205Leu) n.588+1501C>T c.201C>T | |
X | g.154191724A>C | CA519334853 | OPN1MW | c.615A>C (p.Pro205=) n.588+1502A>C c.202A>C | |
X | g.154191724A>G | CA519334855 | OPN1MW | c.615A>G (p.Pro205=) n.588+1502A>G c.202A>G | |
X | g.154191724A>T | CA519334857 | OPN1MW | c.615A>T (p.Pro205=) n.588+1502A>T c.202A>T | |
X | g.154191725G>A | CA415314704 | OPN1MW | c.616G>A (p.Asp206Asn) n.588+1503G>A c.203G>A | |
X | g.154191725G>C | CA415314705 | OPN1MW | c.616G>C (p.Asp206His) n.588+1503G>C c.203G>C | |
X | g.154191725G>T | CA415314706 | OPN1MW | c.616G>T (p.Asp206Tyr) n.588+1503G>T c.203G>T | |
X | g.154191726A>C | CA415314707 | OPN1MW | c.617A>C (p.Asp206Ala) n.588+1504A>C c.204A>C | |
X | g.154191726A>G | CA415314708 | OPN1MW | c.617A>G (p.Asp206Gly) n.588+1504A>G c.204A>G | |
X | g.154191726A>T | CA415314709 | OPN1MW | c.617A>T (p.Asp206Val) n.588+1504A>T c.204A>T | |
X | g.154191727C>A | CA415314711 | OPN1MW | c.618C>A (p.Asp206Glu) n.588+1505C>A c.205C>A | |
X | g.154191727C= | CA2466617967 | OPN1MW | c.618C= (p.Asp206=) n.588+1505C= c.205C= | |
X | g.154191727C>G | CA415314710 | OPN1MW | c.618C>G (p.Asp206Glu) n.588+1505C>G c.205C>G | |
X | g.154191727C>T | CA519334867 | OPN1MW | c.618C>T (p.Asp206=) n.588+1505C>T c.205C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.154191728G>A | CA415314712 | OPN1MW | c.619G>A (p.Val207Met) n.588+1506G>A c.206G>A | gnomAD v4 |
X | g.154191728G>C | CA415314713 | OPN1MW | c.619G>C (p.Val207Leu) n.588+1506G>C c.206G>C | |
X | g.154191728G>T | CA415314714 | OPN1MW | c.619G>T (p.Val207Leu) n.588+1506G>T c.206G>T | |
X | g.154191729T>A | CA415314715 | OPN1MW | c.620T>A (p.Val207Glu) n.588+1507T>A c.207T>A | |
X | g.154191729T>C | CA415314716 | OPN1MW | c.620T>C (p.Val207Ala) n.588+1507T>C c.207T>C | |
X | g.154191729T>G | CA415314717 | OPN1MW | c.620T>G (p.Val207Gly) n.588+1507T>G c.207T>G | |
X | g.154191730G>A | CA519334875 | OPN1MW | c.621G>A (p.Val207=) n.588+1508G>A c.208G>A | |
X | g.154191730G>C | CA519334877 | OPN1MW | c.621G>C (p.Val207=) n.588+1508G>C c.208G>C | |
X | g.154191730G>T | CA519334879 | OPN1MW | c.621G>T (p.Val207=) n.588+1508G>T c.208G>T | |
X | g.154191731T>A | CA415314718 | OPN1MW | c.622T>A (p.Phe208Ile) n.588+1509T>A c.209T>A | |
X | g.154191731T>C | CA415314719 | OPN1MW | c.622T>C (p.Phe208Leu) n.588+1509T>C c.209T>C | |
X | g.154191731T>G | CA415314720 | OPN1MW | c.622T>G (p.Phe208Val) n.588+1509T>G c.209T>G |