| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19964189T>A | CA410689671 | COMT | c.505T>A (p.Ser169Thr) c.355T>A (p.Ser119Thr) n.355T>A n.288T>A n.305T>A n.353T>A n.373T>A c.563T>A (p.Val188Asp) c.83T>A n.243T>A c.619T>A (p.Ser207Thr) c.916T>A (p.Ser306Thr) | |
| 22 | g.19964189T>C | CA410689672 | COMT | c.505T>C (p.Ser169Pro) c.355T>C (p.Ser119Pro) n.355T>C n.288T>C n.305T>C n.353T>C n.373T>C c.563T>C (p.Val188Ala) c.83T>C n.243T>C c.619T>C (p.Ser207Pro) c.916T>C (p.Ser306Pro) | |
| 22 | g.19964189T>G | CA10104635 | COMT | c.505T>G (p.Ser169Ala) c.355T>G (p.Ser119Ala) n.355T>G n.288T>G n.305T>G n.353T>G n.373T>G c.563T>G (p.Val188Gly) c.83T>G n.243T>G c.619T>G (p.Ser207Ala) c.916T>G (p.Ser306Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19964189T= | CA2396126073 | COMT | c.505T= (p.Ser169=) c.355T= (p.Ser119=) n.355T= n.288T= n.305T= n.353T= n.373T= c.563T= (p.Val188=) c.83T= n.243T= c.619T= (p.Ser207=) c.916T= (p.Ser306=) | |
| 22 | g.19964190C>A | CA410689673 | COMT | c.506C>A (p.Ser169Tyr) c.356C>A (p.Ser119Tyr) n.356C>A n.289C>A n.306C>A n.354C>A n.374C>A c.564C>A (p.Val188=) c.84C>A n.244C>A c.620C>A (p.Ser207Tyr) c.917C>A (p.Ser306Tyr) | gnomAD v4 |
| 22 | g.19964190C>G | CA410689674 | COMT | c.506C>G (p.Ser169Cys) c.356C>G (p.Ser119Cys) n.356C>G n.289C>G n.306C>G n.354C>G n.374C>G c.564C>G (p.Val188=) c.84C>G n.244C>G c.620C>G (p.Ser207Cys) c.917C>G (p.Ser306Cys) | |
| 22 | g.19964190C>T | CA410689675 | COMT | c.506C>T (p.Ser169Phe) c.356C>T (p.Ser119Phe) n.356C>T n.289C>T n.306C>T n.354C>T n.374C>T c.564C>T (p.Val188=) c.84C>T n.244C>T c.620C>T (p.Ser207Phe) c.917C>T (p.Ser306Phe) | gnomAD v4 |
| 22 | g.19964192del | CA2655334130 | COMT | c.508del (p.Gln170ArgfsTer7) c.358del (p.Gln120ArgfsTer7) n.358del n.291del n.308del n.356del n.376del c.566del (p.Pro189GlnfsTer?) c.86del n.246del c.622del (p.Gln208ArgfsTer7) c.919del (p.Gln307ArgfsTer7) | gnomAD v4 |
| 22 | g.19964191C>A | CA513688301 | COMT | c.507C>A (p.Ser169=) c.357C>A (p.Ser119=) n.357C>A n.290C>A n.307C>A n.355C>A n.375C>A c.565C>A (p.Pro189Thr) c.85C>A n.245C>A c.621C>A (p.Ser207=) c.918C>A (p.Ser306=) | |
| 22 | g.19964191C>G | CA513688299 | COMT | c.507C>G (p.Ser169=) c.357C>G (p.Ser119=) n.357C>G n.290C>G n.307C>G n.355C>G n.375C>G c.565C>G (p.Pro189Ala) c.85C>G n.245C>G c.621C>G (p.Ser207=) c.918C>G (p.Ser306=) | |
| 22 | g.19964191C>T | CA513688298 | COMT | c.507C>T (p.Ser169=) c.357C>T (p.Ser119=) n.357C>T n.290C>T n.307C>T n.355C>T n.375C>T c.565C>T (p.Pro189Ser) c.85C>T n.245C>T c.621C>T (p.Ser207=) c.918C>T (p.Ser306=) | |
| 22 | g.19964192C>A | CA410689676 | COMT | c.508C>A (p.Gln170Lys) c.358C>A (p.Gln120Lys) n.358C>A n.291C>A n.308C>A n.356C>A n.376C>A c.566C>A (p.Pro189Gln) c.86C>A n.246C>A c.622C>A (p.Gln208Lys) c.919C>A (p.Gln307Lys) | |
| 22 | g.19964192C= | CA2396126074 | COMT | c.508C= (p.Gln170=) c.358C= (p.Gln120=) n.358C= n.291C= n.308C= n.356C= n.376C= c.566C= (p.Pro189=) c.86C= n.246C= c.622C= (p.Gln208=) c.919C= (p.Gln307=) | |
| 22 | g.19964192C>G | CA410689678 | COMT | c.508C>G (p.Gln170Glu) c.358C>G (p.Gln120Glu) n.358C>G n.291C>G n.308C>G n.356C>G n.376C>G c.566C>G (p.Pro189Arg) c.86C>G n.246C>G c.622C>G (p.Gln208Glu) c.919C>G (p.Gln307Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19964192C>T | CA410689677 | COMT | c.508C>T (p.Gln170Ter) c.358C>T (p.Gln120Ter) n.358C>T n.291C>T n.308C>T n.356C>T n.376C>T c.566C>T (p.Pro189Leu) c.86C>T n.246C>T c.622C>T (p.Gln208Ter) c.919C>T (p.Gln307Ter) | gnomAD v4 |
| 22 | g.19964193A>C | CA410689679 | COMT | c.509A>C (p.Gln170Pro) c.359A>C (p.Gln120Pro) n.359A>C n.292A>C n.309A>C n.357A>C n.377A>C c.567A>C (p.Pro189=) c.87A>C n.247A>C c.623A>C (p.Gln208Pro) c.920A>C (p.Gln307Pro) | |
| 22 | g.19964193A>G | CA410689680 | COMT | c.509A>G (p.Gln170Arg) c.359A>G (p.Gln120Arg) n.359A>G n.292A>G n.309A>G n.357A>G n.377A>G c.567A>G (p.Pro189=) c.87A>G n.247A>G c.623A>G (p.Gln208Arg) c.920A>G (p.Gln307Arg) | |
| 22 | g.19964193A>T | CA410689681 | COMT | c.509A>T (p.Gln170Leu) c.359A>T (p.Gln120Leu) n.359A>T n.292A>T n.309A>T n.357A>T n.377A>T c.567A>T (p.Pro189=) c.87A>T n.247A>T c.623A>T (p.Gln208Leu) c.920A>T (p.Gln307Leu) | |
| 22 | g.19964194G>A | CA10104636 | COMT | c.510G>A (p.Gln170=) c.360G>A (p.Gln120=) n.360G>A n.293G>A n.310G>A n.358G>A n.378G>A c.568G>A (p.Gly190Arg) c.88G>A n.248G>A c.624G>A (p.Gln208=) c.921G>A (p.Gln307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19964194G>C | CA410689682 | COMT | c.510G>C (p.Gln170His) c.360G>C (p.Gln120His) n.360G>C n.293G>C n.310G>C n.358G>C n.378G>C c.568G>C (p.Gly190Arg) c.88G>C n.248G>C c.624G>C (p.Gln208His) c.921G>C (p.Gln307His) | |
| 22 | g.19964194G= | CA2396126075 | COMT | c.510G= (p.Gln170=) c.360G= (p.Gln120=) n.360G= n.293G= n.310G= n.358G= n.378G= c.568G= (p.Gly190=) c.88G= n.248G= c.624G= (p.Gln208=) c.921G= (p.Gln307=) | |
| 22 | g.19964194G>T | CA410689683 | COMT | c.510G>T (p.Gln170His) c.360G>T (p.Gln120His) n.360G>T n.293G>T n.310G>T n.358G>T n.378G>T c.568G>T (p.Gly190Ter) c.88G>T n.248G>T c.624G>T (p.Gln208His) c.921G>T (p.Gln307His) | |
| 22 | g.19964195G>A | CA10104637 | COMT | c.511G>A (p.Asp171Asn) c.361G>A (p.Asp121Asn) n.361G>A n.294G>A n.311G>A n.359G>A n.379G>A c.569G>A (p.Gly190Glu) c.89G>A n.249G>A c.625G>A (p.Asp209Asn) c.922G>A (p.Asp308Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.19964195G>C | CA410689684 | COMT | c.511G>C (p.Asp171His) c.361G>C (p.Asp121His) n.361G>C n.294G>C n.311G>C n.359G>C n.379G>C c.569G>C (p.Gly190Ala) c.89G>C n.249G>C c.625G>C (p.Asp209His) c.922G>C (p.Asp308His) | |
| 22 | g.19964195G= | CA2396126076 | COMT | c.511G= (p.Asp171=) c.361G= (p.Asp121=) n.361G= n.294G= n.311G= n.359G= n.379G= c.569G= (p.Gly190=) c.89G= n.249G= c.625G= (p.Asp209=) c.922G= (p.Asp308=) | |
| 22 | g.19964195G>T | CA410689685 | COMT | c.511G>T (p.Asp171Tyr) c.361G>T (p.Asp121Tyr) n.361G>T n.294G>T n.311G>T n.359G>T n.379G>T c.569G>T (p.Gly190Val) c.89G>T n.249G>T c.625G>T (p.Asp209Tyr) c.922G>T (p.Asp308Tyr) | |
| 22 | g.19964196A>C | CA410689686 | COMT | c.512A>C (p.Asp171Ala) c.362A>C (p.Asp121Ala) n.362A>C n.295A>C n.312A>C n.360A>C n.380A>C c.570A>C (p.Gly190=) c.90A>C n.250A>C c.626A>C (p.Asp209Ala) c.923A>C (p.Asp308Ala) | |
| 22 | g.19964196A>G | CA410689687 | COMT | c.512A>G (p.Asp171Gly) c.362A>G (p.Asp121Gly) n.362A>G n.295A>G n.312A>G n.360A>G n.380A>G c.570A>G (p.Gly190=) c.90A>G n.250A>G c.626A>G (p.Asp209Gly) c.923A>G (p.Asp308Gly) | |
| 22 | g.19964196A>T | CA410689688 | COMT | c.512A>T (p.Asp171Val) c.362A>T (p.Asp121Val) n.362A>T n.295A>T n.312A>T n.360A>T n.380A>T c.570A>T (p.Gly190=) c.90A>T n.250A>T c.626A>T (p.Asp209Val) c.923A>T (p.Asp308Val) | |
| 22 | g.19964197C>A | CA410689690 | COMT | c.513C>A (p.Asp171Glu) c.363C>A (p.Asp121Glu) n.363C>A n.296C>A n.313C>A n.361C>A n.381C>A c.571C>A (p.His191Asn) c.91C>A n.251C>A c.627C>A (p.Asp209Glu) c.924C>A (p.Asp308Glu) | |
| 22 | g.19964197C= | CA2396126077 | COMT | c.513C= (p.Asp171=) c.363C= (p.Asp121=) n.363C= n.296C= n.313C= n.361C= n.381C= c.571C= (p.His191=) c.91C= n.251C= c.627C= (p.Asp209=) c.924C= (p.Asp308=) | |
| 22 | g.19964197C>G | CA410689689 | COMT | c.513C>G (p.Asp171Glu) c.363C>G (p.Asp121Glu) n.363C>G n.296C>G n.313C>G n.361C>G n.381C>G c.571C>G (p.His191Asp) c.91C>G n.251C>G c.627C>G (p.Asp209Glu) c.924C>G (p.Asp308Glu) | |
| 22 | g.19964197C>T | CA513688306 | COMT | c.513C>T (p.Asp171=) c.363C>T (p.Asp121=) n.363C>T n.296C>T n.313C>T n.361C>T n.381C>T c.571C>T (p.His191Tyr) c.91C>T n.251C>T c.627C>T (p.Asp209=) c.924C>T (p.Asp308=) | dbSNP gnomAD v4 |
| 22 | g.19964198A>C | CA410689691 | COMT | c.514A>C (p.Ile172Leu) c.364A>C (p.Ile122Leu) n.364A>C n.297A>C n.314A>C n.362A>C n.382A>C c.572A>C (p.His191Pro) c.92A>C n.252A>C c.628A>C (p.Ile210Leu) c.925A>C (p.Ile309Leu) | |
| 22 | g.19964198A>G | CA410689693 | COMT | c.514A>G (p.Ile172Val) c.364A>G (p.Ile122Val) n.364A>G n.297A>G n.314A>G n.362A>G n.382A>G c.572A>G (p.His191Arg) c.92A>G n.252A>G c.628A>G (p.Ile210Val) c.925A>G (p.Ile309Val) | |
| 22 | g.19964198A>T | CA410689692 | COMT | c.514A>T (p.Ile172Phe) c.364A>T (p.Ile122Phe) n.364A>T n.297A>T n.314A>T n.362A>T n.382A>T c.572A>T (p.His191Leu) c.92A>T n.252A>T c.628A>T (p.Ile210Phe) c.925A>T (p.Ile309Phe) | |
| 22 | g.19964199T>A | CA410689694 | COMT | c.515T>A (p.Ile172Asn) c.365T>A (p.Ile122Asn) n.365T>A n.298T>A n.315T>A n.363T>A n.383T>A c.573T>A (p.His191Gln) c.93T>A n.253T>A c.629T>A (p.Ile210Asn) c.926T>A (p.Ile309Asn) | |
| 22 | g.19964199T>C | CA410689696 | COMT | c.515T>C (p.Ile172Thr) c.365T>C (p.Ile122Thr) n.365T>C n.298T>C n.315T>C n.363T>C n.383T>C c.573T>C (p.His191=) c.93T>C n.253T>C c.629T>C (p.Ile210Thr) c.926T>C (p.Ile309Thr) | |
| 22 | g.19964199T>G | CA410689695 | COMT | c.515T>G (p.Ile172Ser) c.365T>G (p.Ile122Ser) n.365T>G n.298T>G n.315T>G n.363T>G n.383T>G c.573T>G (p.His191Gln) c.93T>G n.253T>G c.629T>G (p.Ile210Ser) c.926T>G (p.Ile309Ser) | |
| 22 | g.19964200C>A | CA513688315 | COMT | c.516C>A (p.Ile172=) c.366C>A (p.Ile122=) n.366C>A n.299C>A n.316C>A n.364C>A n.384C>A c.574C>A (p.His192Asn) c.94C>A n.254C>A c.630C>A (p.Ile210=) c.927C>A (p.Ile309=) | |
| 22 | g.19964200C>G | CA410689697 | COMT | c.516C>G (p.Ile172Met) c.366C>G (p.Ile122Met) n.366C>G n.299C>G n.316C>G n.364C>G n.384C>G c.574C>G (p.His192Asp) c.94C>G n.254C>G c.630C>G (p.Ile210Met) c.927C>G (p.Ile309Met) | |
| 22 | g.19964200C>T | CA513688314 | COMT | c.516C>T (p.Ile172=) c.366C>T (p.Ile122=) n.366C>T n.299C>T n.316C>T n.364C>T n.384C>T c.574C>T (p.His192Tyr) c.94C>T n.254C>T c.630C>T (p.Ile210=) c.927C>T (p.Ile309=) | |
| 22 | g.19964201A>C | CA410689698 | COMT | c.517A>C (p.Ile173Leu) c.367A>C (p.Ile123Leu) n.367A>C n.300A>C n.317A>C n.365A>C n.385A>C c.575A>C (p.His192Pro) c.95A>C n.255A>C c.631A>C (p.Ile211Leu) c.928A>C (p.Ile310Leu) | |
| 22 | g.19964201A>G | CA410689699 | COMT | c.517A>G (p.Ile173Val) c.367A>G (p.Ile123Val) n.367A>G n.300A>G n.317A>G n.365A>G n.385A>G c.575A>G (p.His192Arg) c.95A>G n.255A>G c.631A>G (p.Ile211Val) c.928A>G (p.Ile310Val) | |
| 22 | g.19964201A>T | CA410689700 | COMT | c.517A>T (p.Ile173Phe) c.367A>T (p.Ile123Phe) n.367A>T n.300A>T n.317A>T n.365A>T n.385A>T c.575A>T (p.His192Leu) c.95A>T n.255A>T c.631A>T (p.Ile211Phe) c.928A>T (p.Ile310Phe) | |
| 22 | g.19964202T>A | CA10104638 | COMT | c.518T>A (p.Ile173Asn) c.368T>A (p.Ile123Asn) n.368T>A n.301T>A n.318T>A n.366T>A n.386T>A c.576T>A (p.His192Gln) c.96T>A n.256T>A c.632T>A (p.Ile211Asn) c.929T>A (p.Ile310Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19964202T>C | CA410689701 | COMT | c.518T>C (p.Ile173Thr) c.368T>C (p.Ile123Thr) n.368T>C n.301T>C n.318T>C n.366T>C n.386T>C c.576T>C (p.His192=) c.96T>C n.256T>C c.632T>C (p.Ile211Thr) c.929T>C (p.Ile310Thr) | |
| 22 | g.19964202T>G | CA410689702 | COMT | c.518T>G (p.Ile173Ser) c.368T>G (p.Ile123Ser) n.368T>G n.301T>G n.318T>G n.366T>G n.386T>G c.576T>G (p.His192Gln) c.96T>G n.256T>G c.632T>G (p.Ile211Ser) c.929T>G (p.Ile310Ser) | |
| 22 | g.19964202T= | CA2396126078 | COMT | c.518T= (p.Ile173=) c.368T= (p.Ile123=) n.368T= n.301T= n.318T= n.366T= n.386T= c.576T= (p.His192=) c.96T= n.256T= c.632T= (p.Ile211=) c.929T= (p.Ile310=) | |
| 22 | g.19964202_19964203delinsTC | CA2396126079 | COMT | c.518_519delinsTC (p.Ile173=) c.368_369delinsTC (p.Ile123=) n.368_369delinsTC n.301_302delinsTC n.318_319delinsTC n.366_367delinsTC n.386_387delinsTC c.576_577delinsTC (p.His192=) c.96_97delinsTC n.256_257delinsTC c.632_633delinsTC (p.Ile211=) c.929_930delinsTC (p.Ile310=) |