| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962679_19962821del | CA1024175389 | COMT | c.153_289+6del c.3_139+6del n.1_137+6del n.349_491del c.267_403+6del c.564_700+6del | gnomAD v3 gnomAD v4 |
| 22 | g.19962711_19962712del | CA2655332886 | COMT | c.185_186del (p.His62ArgfsTer18) c.35_36del (p.His12ArgfsTer18) n.33_34del n.381_382del c.299_300del (p.His100ArgfsTer18) c.596_597del (p.His199ArgfsTer18) | gnomAD v4 |
| 22 | g.19962712C>A | CA410688746 | COMT | c.186C>A (p.His62Gln) c.36C>A (p.His12Gln) n.34C>A n.382C>A c.300C>A (p.His100Gln) c.597C>A (p.His199Gln) | gnomAD v4 |
| 22 | g.19962712C= | CA1139772227 | COMT | c.186C= (p.His62=) c.36C= (p.His12=) n.34C= n.382C= c.300C= (p.His100=) c.597C= (p.His199=) | |
| 22 | g.19962712C>G | CA410688747 | COMT | c.186C>G (p.His62Gln) c.36C>G (p.His12Gln) n.34C>G n.382C>G c.300C>G (p.His100Gln) c.597C>G (p.His199Gln) | |
| 22 | g.19962712C>T | CA10104478 | COMT | c.186C>T (p.His62=) c.36C>T (p.His12=) n.34C>T n.382C>T c.300C>T (p.His100=) c.597C>T (p.His199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962713G>A | CA410688748 | COMT | c.187G>A (p.Val63Met) c.37G>A (p.Val13Met) n.35G>A n.383G>A c.301G>A (p.Val101Met) c.598G>A (p.Val200Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962713G>C | CA410688749 | COMT | c.187G>C (p.Val63Leu) c.37G>C (p.Val13Leu) n.35G>C n.383G>C c.301G>C (p.Val101Leu) c.598G>C (p.Val200Leu) | |
| 22 | g.19962713G= | CA2396125252 | COMT | c.187G= (p.Val63=) c.37G= (p.Val13=) n.35G= n.383G= c.301G= (p.Val101=) c.598G= (p.Val200=) | |
| 22 | g.19962713G>T | CA410688750 | COMT | c.187G>T (p.Val63Leu) c.37G>T (p.Val13Leu) n.35G>T n.383G>T c.301G>T (p.Val101Leu) c.598G>T (p.Val200Leu) | |
| 22 | g.19962714T>A | CA410688751 | COMT | c.188T>A (p.Val63Glu) c.38T>A (p.Val13Glu) n.36T>A n.384T>A c.302T>A (p.Val101Glu) c.599T>A (p.Val200Glu) | gnomAD v4 |
| 22 | g.19962714T>C | CA10104479 | COMT | c.188T>C (p.Val63Ala) c.38T>C (p.Val13Ala) n.36T>C n.384T>C c.302T>C (p.Val101Ala) c.599T>C (p.Val200Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962714T>G | CA410688752 | COMT | c.188T>G (p.Val63Gly) c.38T>G (p.Val13Gly) n.36T>G n.384T>G c.302T>G (p.Val101Gly) c.599T>G (p.Val200Gly) | |
| 22 | g.19962714T= | CA2396125253 | COMT | c.188T= (p.Val63=) c.38T= (p.Val13=) n.36T= n.384T= c.302T= (p.Val101=) c.599T= (p.Val200=) | |
| 22 | g.19962715G>A | CA513687964 | COMT | c.189G>A (p.Val63=) c.39G>A (p.Val13=) n.37G>A n.385G>A c.303G>A (p.Val101=) c.600G>A (p.Val200=) | |
| 22 | g.19962715G>C | CA513687961 | COMT | c.189G>C (p.Val63=) c.39G>C (p.Val13=) n.37G>C n.385G>C c.303G>C (p.Val101=) c.600G>C (p.Val200=) | |
| 22 | g.19962715G>T | CA513687960 | COMT | c.189G>T (p.Val63=) c.39G>T (p.Val13=) n.37G>T n.385G>T c.303G>T (p.Val101=) c.600G>T (p.Val200=) | |
| 22 | g.19962716C>A | CA410688753 | COMT | c.190C>A (p.Leu64Met) c.40C>A (p.Leu14Met) n.38C>A n.386C>A c.304C>A (p.Leu102Met) c.601C>A (p.Leu201Met) | |
| 22 | g.19962716C>G | CA410688754 | COMT | c.190C>G (p.Leu64Val) c.40C>G (p.Leu14Val) n.38C>G n.386C>G c.304C>G (p.Leu102Val) c.601C>G (p.Leu201Val) | |
| 22 | g.19962716C>T | CA513687966 | COMT | c.190C>T (p.Leu64=) c.40C>T (p.Leu14=) n.38C>T n.386C>T c.304C>T (p.Leu102=) c.601C>T (p.Leu201=) | |
| 22 | g.19962717T>A | CA410688755 | COMT | c.191T>A (p.Leu64Gln) c.41T>A (p.Leu14Gln) n.39T>A n.387T>A c.305T>A (p.Leu102Gln) c.602T>A (p.Leu201Gln) | |
| 22 | g.19962717T>C | CA410688756 | COMT | c.191T>C (p.Leu64Pro) c.41T>C (p.Leu14Pro) n.39T>C n.387T>C c.305T>C (p.Leu102Pro) c.602T>C (p.Leu201Pro) | |
| 22 | g.19962717T>G | CA410688757 | COMT | c.191T>G (p.Leu64Arg) c.41T>G (p.Leu14Arg) n.39T>G n.387T>G c.305T>G (p.Leu102Arg) c.602T>G (p.Leu201Arg) | |
| 22 | g.19962718G>A | CA513687978 | COMT | c.192G>A (p.Leu64=) c.42G>A (p.Leu14=) n.40G>A n.388G>A c.306G>A (p.Leu102=) c.603G>A (p.Leu201=) | |
| 22 | g.19962718G>C | CA513687973 | COMT | c.192G>C (p.Leu64=) c.42G>C (p.Leu14=) n.40G>C n.388G>C c.306G>C (p.Leu102=) c.603G>C (p.Leu201=) | |
| 22 | g.19962718G>T | CA513687972 | COMT | c.192G>T (p.Leu64=) c.42G>T (p.Leu14=) n.40G>T n.388G>T c.306G>T (p.Leu102=) c.603G>T (p.Leu201=) | |
| 22 | g.19962719C>A | CA410688759 | COMT | c.193C>A (p.Gln65Lys) c.43C>A (p.Gln15Lys) n.41C>A n.389C>A c.307C>A (p.Gln103Lys) c.604C>A (p.Gln202Lys) | |
| 22 | g.19962719C>G | CA410688760 | COMT | c.193C>G (p.Gln65Glu) c.43C>G (p.Gln15Glu) n.41C>G n.389C>G c.307C>G (p.Gln103Glu) c.604C>G (p.Gln202Glu) | |
| 22 | g.19962719C>T | CA410688758 | COMT | c.193C>T (p.Gln65Ter) c.43C>T (p.Gln15Ter) n.41C>T n.389C>T c.307C>T (p.Gln103Ter) c.604C>T (p.Gln202Ter) | |
| 22 | g.19962720A= | CA2396125254 | COMT | c.194A= (p.Gln65=) c.44A= (p.Gln15=) n.42A= n.390A= c.308A= (p.Gln103=) c.605A= (p.Gln202=) | |
| 22 | g.19962720A>C | CA410688761 | COMT | c.194A>C (p.Gln65Pro) c.44A>C (p.Gln15Pro) n.42A>C n.390A>C c.308A>C (p.Gln103Pro) c.605A>C (p.Gln202Pro) | |
| 22 | g.19962720A>G | CA322120809 | COMT | c.194A>G (p.Gln65Arg) c.44A>G (p.Gln15Arg) n.42A>G n.390A>G c.308A>G (p.Gln103Arg) c.605A>G (p.Gln202Arg) | dbSNP gnomAD v4 |
| 22 | g.19962720A>T | CA410688762 | COMT | c.194A>T (p.Gln65Leu) c.44A>T (p.Gln15Leu) n.42A>T n.390A>T c.308A>T (p.Gln103Leu) c.605A>T (p.Gln202Leu) | |
| 22 | g.19962721del | CA2655332900 | COMT | c.195del (p.Gln65HisfsTer26) c.45del (p.Gln15HisfsTer26) n.43del n.391del c.309del (p.Gln103HisfsTer26) c.606del (p.Gln202HisfsTer26) | gnomAD v4 |
| 22 | g.19962721G>A | CA513688006 | COMT | c.195G>A (p.Gln65=) c.45G>A (p.Gln15=) n.43G>A n.391G>A c.309G>A (p.Gln103=) c.606G>A (p.Gln202=) | |
| 22 | g.19962721G>C | CA410688763 | COMT | c.195G>C (p.Gln65His) c.45G>C (p.Gln15His) n.43G>C n.391G>C c.309G>C (p.Gln103His) c.606G>C (p.Gln202His) | |
| 22 | g.19962721G>T | CA410688764 | COMT | c.195G>T (p.Gln65His) c.45G>T (p.Gln15His) n.43G>T n.391G>T c.309G>T (p.Gln103His) c.606G>T (p.Gln202His) | |
| 22 | g.19962722C>A | CA410688765 | COMT | c.196C>A (p.His66Asn) c.46C>A (p.His16Asn) n.44C>A n.392C>A c.310C>A (p.His104Asn) c.607C>A (p.His203Asn) | |
| 22 | g.19962722C= | CA2396125255 | COMT | c.196C= (p.His66=) c.46C= (p.His16=) n.44C= n.392C= c.310C= (p.His104=) c.607C= (p.His203=) | |
| 22 | g.19962722C>G | CA410688766 | COMT | c.196C>G (p.His66Asp) c.46C>G (p.His16Asp) n.44C>G n.392C>G c.310C>G (p.His104Asp) c.607C>G (p.His203Asp) | |
| 22 | g.19962722C>T | CA410688767 | COMT | c.196C>T (p.His66Tyr) c.46C>T (p.His16Tyr) n.44C>T n.392C>T c.310C>T (p.His104Tyr) c.607C>T (p.His203Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962723A= | CA2396125256 | COMT | c.197A= (p.His66=) c.47A= (p.His16=) n.45A= n.393A= c.311A= (p.His104=) c.608A= (p.His203=) | |
| 22 | g.19962723A>C | CA410688768 | COMT | c.197A>C (p.His66Pro) c.47A>C (p.His16Pro) n.45A>C n.393A>C c.311A>C (p.His104Pro) c.608A>C (p.His203Pro) | |
| 22 | g.19962723A>G | CA410688769 | COMT | c.197A>G (p.His66Arg) c.47A>G (p.His16Arg) n.45A>G n.393A>G c.311A>G (p.His104Arg) c.608A>G (p.His203Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962723A>T | CA410688770 | COMT | c.197A>T (p.His66Leu) c.47A>T (p.His16Leu) n.45A>T n.393A>T c.311A>T (p.His104Leu) c.608A>T (p.His203Leu) | gnomAD v4 |
| 22 | g.19962724T>A | CA410688771 | COMT | c.198T>A (p.His66Gln) c.48T>A (p.His16Gln) n.46T>A n.394T>A c.312T>A (p.His104Gln) c.609T>A (p.His203Gln) | gnomAD v4 |
| 22 | g.19962724T>C | CA513688011 | COMT | c.198T>C (p.His66=) c.48T>C (p.His16=) n.46T>C n.394T>C c.312T>C (p.His104=) c.609T>C (p.His203=) | |
| 22 | g.19962724T>G | CA410688772 | COMT | c.198T>G (p.His66Gln) c.48T>G (p.His16Gln) n.46T>G n.394T>G c.312T>G (p.His104Gln) c.609T>G (p.His203Gln) | |
| 22 | g.19962725G>A | CA410688775 | COMT | c.199G>A (p.Ala67Thr) c.49G>A (p.Ala17Thr) n.47G>A n.395G>A c.313G>A (p.Ala105Thr) c.610G>A (p.Ala204Thr) | dbSNP |
| 22 | g.19962725G>C | CA410688773 | COMT | c.199G>C (p.Ala67Pro) c.49G>C (p.Ala17Pro) n.47G>C n.395G>C c.313G>C (p.Ala105Pro) c.610G>C (p.Ala204Pro) |