| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19964181T>A | CA410689657 | COMT | c.497T>A (p.Val166Asp) c.347T>A (p.Val116Asp) c.611T>A (p.Val204Asp) c.908T>A (p.Val303Asp) c.555T>A (p.Gly185=) n.75T>A n.235T>A | |
| 22 | g.19964181T>C | CA410689658 | COMT | c.497T>C (p.Val166Ala) c.347T>C (p.Val116Ala) c.611T>C (p.Val204Ala) c.908T>C (p.Val303Ala) c.555T>C (p.Gly185=) n.75T>C n.235T>C | gnomAD |
| 22 | g.19964181T>G | CA410689659 | COMT | c.497T>G (p.Val166Gly) c.347T>G (p.Val116Gly) c.611T>G (p.Val204Gly) c.908T>G (p.Val303Gly) c.555T>G (p.Gly185=) n.75T>G n.235T>G | |
| 22 | g.19964182T>A | CA513688279 | COMT | c.498T>A (p.Val166=) c.348T>A (p.Val116=) c.612T>A (p.Val204=) c.909T>A (p.Val303=) c.556T>A (p.Trp186Arg) n.76T>A n.236T>A | |
| 22 | g.19964182T>C | CA513688272 | COMT | c.498T>C (p.Val166=) c.348T>C (p.Val116=) c.612T>C (p.Val204=) c.909T>C (p.Val303=) c.556T>C (p.Trp186Arg) n.76T>C n.236T>C | |
| 22 | g.19964182T>G | CA513688268 | COMT | c.498T>G (p.Val166=) c.348T>G (p.Val116=) c.612T>G (p.Val204=) c.909T>G (p.Val303=) c.556T>G (p.Trp186Gly) n.76T>G n.236T>G | |
| 22 | g.19964183G>A | CA410689660 | COMT | c.499G>A (p.Gly167Arg) c.349G>A (p.Gly117Arg) c.613G>A (p.Gly205Arg) c.910G>A (p.Gly304Arg) c.557G>A (p.Trp186Ter) n.77G>A n.237G>A | |
| 22 | g.19964183G>C | CA410689661 | COMT | c.499G>C (p.Gly167Arg) c.349G>C (p.Gly117Arg) c.613G>C (p.Gly205Arg) c.910G>C (p.Gly304Arg) c.557G>C (p.Trp186Ser) n.77G>C n.237G>C | |
| 22 | g.19964183G>T | CA410689662 | COMT | c.499G>T (p.Gly167Ter) c.349G>T (p.Gly117Ter) c.613G>T (p.Gly205Ter) c.910G>T (p.Gly304Ter) c.557G>T (p.Trp186Leu) n.77G>T n.237G>T | |
| 22 | g.19964184G>A | CA410689664 | COMT | c.500G>A (p.Gly167Glu) c.350G>A (p.Gly117Glu) c.614G>A (p.Gly205Glu) c.911G>A (p.Gly304Glu) c.558G>A (p.Trp186Ter) n.78G>A n.238G>A | gnomAD |
| 22 | g.19964184G>C | CA410689665 | COMT | c.500G>C (p.Gly167Ala) c.350G>C (p.Gly117Ala) c.614G>C (p.Gly205Ala) c.911G>C (p.Gly304Ala) c.558G>C (p.Trp186Cys) n.78G>C n.238G>C | |
| 22 | g.19964184G>T | CA410689663 | COMT | c.500G>T (p.Gly167Val) c.350G>T (p.Gly117Val) c.614G>T (p.Gly205Val) c.911G>T (p.Gly304Val) c.558G>T (p.Trp186Cys) n.78G>T n.238G>T | |
| 22 | g.19964185A>C | CA10104632 | COMT | c.501A>C (p.Gly167=) c.351A>C (p.Gly117=) c.615A>C (p.Gly205=) c.912A>C (p.Gly304=) c.559A>C (p.Ser187Arg) n.79A>C n.239A>C | dbSNP ExAC gnomAD |
| 22 | g.19964185A>G | CA513688288 | COMT | c.501A>G (p.Gly167=) c.351A>G (p.Gly117=) c.615A>G (p.Gly205=) c.912A>G (p.Gly304=) c.559A>G (p.Ser187Gly) n.79A>G n.239A>G | |
| 22 | g.19964185A>T | CA513688284 | COMT | c.501A>T (p.Gly167=) c.351A>T (p.Gly117=) c.615A>T (p.Gly205=) c.912A>T (p.Gly304=) c.559A>T (p.Ser187Cys) n.79A>T n.239A>T | |
| 22 | g.19964186G>A | CA410689666 | COMT | c.502G>A (p.Ala168Thr) c.352G>A (p.Ala118Thr) c.616G>A (p.Ala206Thr) c.913G>A (p.Ala305Thr) c.560G>A (p.Ser187Asn) n.80G>A n.240G>A | |
| 22 | g.19964186G>C | CA410689667 | COMT | c.502G>C (p.Ala168Pro) c.352G>C (p.Ala118Pro) c.616G>C (p.Ala206Pro) c.913G>C (p.Ala305Pro) c.560G>C (p.Ser187Thr) n.80G>C n.240G>C | |
| 22 | g.19964186G>T | CA410689668 | COMT | c.502G>T (p.Ala168Ser) c.352G>T (p.Ala118Ser) c.616G>T (p.Ala206Ser) c.913G>T (p.Ala305Ser) c.560G>T (p.Ser187Ile) n.80G>T n.240G>T | |
| 22 | g.19964187C>A | CA410689669 | COMT | c.503C>A (p.Ala168Glu) c.353C>A (p.Ala118Glu) c.617C>A (p.Ala206Glu) c.914C>A (p.Ala305Glu) c.561C>A (p.Ser187Arg) n.81C>A n.241C>A | |
| 22 | g.19964187C>G | CA410689670 | COMT | c.503C>G (p.Ala168Gly) c.353C>G (p.Ala118Gly) c.617C>G (p.Ala206Gly) c.914C>G (p.Ala305Gly) c.561C>G (p.Ser187Arg) n.81C>G n.241C>G | |
| 22 | g.19964187C>T | CA10104633 | COMT | c.503C>T (p.Ala168Val) c.353C>T (p.Ala118Val) c.617C>T (p.Ala206Val) c.914C>T (p.Ala305Val) c.561C>T (p.Ser187=) n.81C>T n.241C>T | ClinVar dbSNP ExAC gnomAD |
| 22 | g.19964188G>A | CA10104634 | COMT | c.504G>A (p.Ala168=) c.354G>A (p.Ala118=) c.618G>A (p.Ala206=) c.915G>A (p.Ala305=) c.562G>A (p.Val188Ile) n.82G>A n.242G>A | ClinVar dbSNP ExAC gnomAD |
| 22 | g.19964188G>C | CA513688293 | COMT | c.504G>C (p.Ala168=) c.354G>C (p.Ala118=) c.618G>C (p.Ala206=) c.915G>C (p.Ala305=) c.562G>C (p.Val188Leu) n.82G>C n.242G>C | |
| 22 | g.19964188G>T | CA513688291 | COMT | c.504G>T (p.Ala168=) c.354G>T (p.Ala118=) c.618G>T (p.Ala206=) c.915G>T (p.Ala305=) c.562G>T (p.Val188Phe) n.82G>T n.242G>T | |
| 22 | g.19964189T>A | CA410689671 | COMT | c.505T>A (p.Ser169Thr) c.355T>A (p.Ser119Thr) c.619T>A (p.Ser207Thr) c.916T>A (p.Ser306Thr) c.563T>A (p.Val188Asp) n.83T>A n.243T>A | |
| 22 | g.19964189T>C | CA410689672 | COMT | c.505T>C (p.Ser169Pro) c.355T>C (p.Ser119Pro) c.619T>C (p.Ser207Pro) c.916T>C (p.Ser306Pro) c.563T>C (p.Val188Ala) n.83T>C n.243T>C | |
| 22 | g.19964189T>G | CA10104635 | COMT | c.505T>G (p.Ser169Ala) c.355T>G (p.Ser119Ala) c.619T>G (p.Ser207Ala) c.916T>G (p.Ser306Ala) c.563T>G (p.Val188Gly) n.83T>G n.243T>G | dbSNP ExAC gnomAD |
| 22 | g.19964190C>A | CA410689673 | COMT | c.506C>A (p.Ser169Tyr) c.356C>A (p.Ser119Tyr) c.620C>A (p.Ser207Tyr) c.917C>A (p.Ser306Tyr) c.564C>A (p.Val188=) n.84C>A n.244C>A | |
| 22 | g.19964190C>G | CA410689674 | COMT | c.506C>G (p.Ser169Cys) c.356C>G (p.Ser119Cys) c.620C>G (p.Ser207Cys) c.917C>G (p.Ser306Cys) c.564C>G (p.Val188=) n.84C>G n.244C>G | |
| 22 | g.19964190C>T | CA410689675 | COMT | c.506C>T (p.Ser169Phe) c.356C>T (p.Ser119Phe) c.620C>T (p.Ser207Phe) c.917C>T (p.Ser306Phe) c.564C>T (p.Val188=) n.84C>T n.244C>T | |
| 22 | g.19964191C>A | CA513688301 | COMT | c.507C>A (p.Ser169=) c.357C>A (p.Ser119=) c.621C>A (p.Ser207=) c.918C>A (p.Ser306=) c.565C>A (p.Pro189Thr) n.85C>A n.245C>A | |
| 22 | g.19964191C>G | CA513688299 | COMT | c.507C>G (p.Ser169=) c.357C>G (p.Ser119=) c.621C>G (p.Ser207=) c.918C>G (p.Ser306=) c.565C>G (p.Pro189Ala) n.85C>G n.245C>G | |
| 22 | g.19964191C>T | CA513688298 | COMT | c.507C>T (p.Ser169=) c.357C>T (p.Ser119=) c.621C>T (p.Ser207=) c.918C>T (p.Ser306=) c.565C>T (p.Pro189Ser) n.85C>T n.245C>T | |
| 22 | g.19964192C>A | CA410689676 | COMT | c.508C>A (p.Gln170Lys) c.358C>A (p.Gln120Lys) c.622C>A (p.Gln208Lys) c.919C>A (p.Gln307Lys) c.566C>A (p.Pro189Gln) n.86C>A n.246C>A | |
| 22 | g.19964192C>G | CA410689678 | COMT | c.508C>G (p.Gln170Glu) c.358C>G (p.Gln120Glu) c.622C>G (p.Gln208Glu) c.919C>G (p.Gln307Glu) c.566C>G (p.Pro189Arg) n.86C>G n.246C>G | gnomAD |
| 22 | g.19964192C>T | CA410689677 | COMT | c.508C>T (p.Gln170Ter) c.358C>T (p.Gln120Ter) c.622C>T (p.Gln208Ter) c.919C>T (p.Gln307Ter) c.566C>T (p.Pro189Leu) n.86C>T n.246C>T | |
| 22 | g.19964193A>C | CA410689679 | COMT | c.509A>C (p.Gln170Pro) c.359A>C (p.Gln120Pro) c.623A>C (p.Gln208Pro) c.920A>C (p.Gln307Pro) c.567A>C (p.Pro189=) n.87A>C n.247A>C | |
| 22 | g.19964193A>G | CA410689680 | COMT | c.509A>G (p.Gln170Arg) c.359A>G (p.Gln120Arg) c.623A>G (p.Gln208Arg) c.920A>G (p.Gln307Arg) c.567A>G (p.Pro189=) n.87A>G n.247A>G | |
| 22 | g.19964193A>T | CA410689681 | COMT | c.509A>T (p.Gln170Leu) c.359A>T (p.Gln120Leu) c.623A>T (p.Gln208Leu) c.920A>T (p.Gln307Leu) c.567A>T (p.Pro189=) n.87A>T n.247A>T | |
| 22 | g.19964194G>A | CA10104636 | COMT | c.510G>A (p.Gln170=) c.360G>A (p.Gln120=) c.624G>A (p.Gln208=) c.921G>A (p.Gln307=) c.568G>A (p.Gly190Arg) n.88G>A n.248G>A | ClinVar dbSNP ExAC gnomAD |
| 22 | g.19964194G>C | CA410689682 | COMT | c.510G>C (p.Gln170His) c.360G>C (p.Gln120His) c.624G>C (p.Gln208His) c.921G>C (p.Gln307His) c.568G>C (p.Gly190Arg) n.88G>C n.248G>C | |
| 22 | g.19964194G>T | CA410689683 | COMT | c.510G>T (p.Gln170His) c.360G>T (p.Gln120His) c.624G>T (p.Gln208His) c.921G>T (p.Gln307His) c.568G>T (p.Gly190Ter) n.88G>T n.248G>T | |
| 22 | g.19964195G>A | CA10104637 | COMT | c.511G>A (p.Asp171Asn) c.361G>A (p.Asp121Asn) c.625G>A (p.Asp209Asn) c.922G>A (p.Asp308Asn) c.569G>A (p.Gly190Glu) n.89G>A n.249G>A | dbSNP ExAC gnomAD COSMIC |
| 22 | g.19964195G>C | CA410689684 | COMT | c.511G>C (p.Asp171His) c.361G>C (p.Asp121His) c.625G>C (p.Asp209His) c.922G>C (p.Asp308His) c.569G>C (p.Gly190Ala) n.89G>C n.249G>C | |
| 22 | g.19964195G>T | CA410689685 | COMT | c.511G>T (p.Asp171Tyr) c.361G>T (p.Asp121Tyr) c.625G>T (p.Asp209Tyr) c.922G>T (p.Asp308Tyr) c.569G>T (p.Gly190Val) n.89G>T n.249G>T | |
| 22 | g.19964196A>C | CA410689686 | COMT | c.512A>C (p.Asp171Ala) c.362A>C (p.Asp121Ala) c.626A>C (p.Asp209Ala) c.923A>C (p.Asp308Ala) c.570A>C (p.Gly190=) n.90A>C n.250A>C | |
| 22 | g.19964196A>G | CA410689687 | COMT | c.512A>G (p.Asp171Gly) c.362A>G (p.Asp121Gly) c.626A>G (p.Asp209Gly) c.923A>G (p.Asp308Gly) c.570A>G (p.Gly190=) n.90A>G n.250A>G | |
| 22 | g.19964196A>T | CA410689688 | COMT | c.512A>T (p.Asp171Val) c.362A>T (p.Asp121Val) c.626A>T (p.Asp209Val) c.923A>T (p.Asp308Val) c.570A>T (p.Gly190=) n.90A>T n.250A>T | |
| 22 | g.19964197C>A | CA410689690 | COMT | c.513C>A (p.Asp171Glu) c.363C>A (p.Asp121Glu) c.627C>A (p.Asp209Glu) c.924C>A (p.Asp308Glu) c.571C>A (p.His191Asn) n.91C>A n.251C>A | |
| 22 | g.19964197C>G | CA410689689 | COMT | c.513C>G (p.Asp171Glu) c.363C>G (p.Asp121Glu) c.627C>G (p.Asp209Glu) c.924C>G (p.Asp308Glu) c.571C>G (p.His191Asp) n.91C>G n.251C>G |