| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.103100283C>A | CA267170692 | EXOC3L4 | c.64C>A (p.Pro22Thr) c.238C>A (p.Pro80Thr) c.175C>A (p.Pro59Thr) n.793C>A n.820C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100283C= | CA2160139993 | EXOC3L4 | c.64C= (p.Pro22=) c.238C= (p.Pro80=) c.175C= (p.Pro59=) n.793C= n.820C= | |
| 14 | g.103100283C>G | CA391080929 | EXOC3L4 | c.64C>G (p.Pro22Ala) c.238C>G (p.Pro80Ala) c.175C>G (p.Pro59Ala) n.793C>G n.820C>G | gnomAD v4 |
| 14 | g.103100283C>T | CA391080930 | EXOC3L4 | c.64C>T (p.Pro22Ser) c.238C>T (p.Pro80Ser) c.175C>T (p.Pro59Ser) n.793C>T n.820C>T | gnomAD v4 |
| 14 | g.103100284C>A | CA267170695 | EXOC3L4 | c.65C>A (p.Pro22Gln) c.239C>A (p.Pro80Gln) c.176C>A (p.Pro59Gln) n.794C>A n.821C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100284C= | CA2160139994 | EXOC3L4 | c.65C= (p.Pro22=) c.239C= (p.Pro80=) c.176C= (p.Pro59=) n.794C= n.821C= | |
| 14 | g.103100284C>G | CA391080931 | EXOC3L4 | c.65C>G (p.Pro22Arg) c.239C>G (p.Pro80Arg) c.176C>G (p.Pro59Arg) n.794C>G n.821C>G | |
| 14 | g.103100284C>T | CA391080932 | EXOC3L4 | c.65C>T (p.Pro22Leu) c.239C>T (p.Pro80Leu) c.176C>T (p.Pro59Leu) n.794C>T n.821C>T | |
| 14 | g.103100286_103100287del | CA2626692194 | EXOC3L4 | c.67_68del (p.Gln23AspfsTer?) c.241_242del (p.Gln81AspfsTer?) c.178_179del (p.Gln60AspfsTer?) n.796_797del n.823_824del | gnomAD v4 |
| 14 | g.103100285A>C | CA488193693 | EXOC3L4 | c.66A>C (p.Pro22=) c.240A>C (p.Pro80=) c.177A>C (p.Pro59=) n.795A>C n.822A>C | |
| 14 | g.103100285A>G | CA488193692 | EXOC3L4 | c.66A>G (p.Pro22=) c.240A>G (p.Pro80=) c.177A>G (p.Pro59=) n.795A>G n.822A>G | |
| 14 | g.103100285A>T | CA488193691 | EXOC3L4 | c.66A>T (p.Pro22=) c.240A>T (p.Pro80=) c.177A>T (p.Pro59=) n.795A>T n.822A>T | gnomAD v4 |
| 14 | g.103100286C>A | CA391080935 | EXOC3L4 | c.67C>A (p.Gln23Lys) c.241C>A (p.Gln81Lys) c.178C>A (p.Gln60Lys) n.796C>A n.823C>A | gnomAD v4 |
| 14 | g.103100286C>G | CA391080933 | EXOC3L4 | c.67C>G (p.Gln23Glu) c.241C>G (p.Gln81Glu) c.178C>G (p.Gln60Glu) n.796C>G n.823C>G | |
| 14 | g.103100286C>T | CA391080934 | EXOC3L4 | c.67C>T (p.Gln23Ter) c.241C>T (p.Gln81Ter) c.178C>T (p.Gln60Ter) n.796C>T n.823C>T | |
| 14 | g.103100287A>C | CA391080936 | EXOC3L4 | c.68A>C (p.Gln23Pro) c.242A>C (p.Gln81Pro) c.179A>C (p.Gln60Pro) n.797A>C n.824A>C | |
| 14 | g.103100287A>G | CA391080937 | EXOC3L4 | c.68A>G (p.Gln23Arg) c.242A>G (p.Gln81Arg) c.179A>G (p.Gln60Arg) n.797A>G n.824A>G | gnomAD v4 |
| 14 | g.103100287A>T | CA391080938 | EXOC3L4 | c.68A>T (p.Gln23Leu) c.242A>T (p.Gln81Leu) c.179A>T (p.Gln60Leu) n.797A>T n.824A>T | |
| 14 | g.103100288G>A | CA488193696 | EXOC3L4 | c.69G>A (p.Gln23=) c.243G>A (p.Gln81=) c.180G>A (p.Gln60=) n.798G>A n.825G>A | gnomAD v4 |
| 14 | g.103100288G>C | CA391080939 | EXOC3L4 | c.69G>C (p.Gln23His) c.243G>C (p.Gln81His) c.180G>C (p.Gln60His) n.798G>C n.825G>C | dbSNP gnomAD v4 |
| 14 | g.103100288G= | CA2160139995 | EXOC3L4 | c.69G= (p.Gln23=) c.243G= (p.Gln81=) c.180G= (p.Gln60=) n.798G= n.825G= | |
| 14 | g.103100288G>T | CA391080940 | EXOC3L4 | c.69G>T (p.Gln23His) c.243G>T (p.Gln81His) c.180G>T (p.Gln60His) n.798G>T n.825G>T | |
| 14 | g.103100289A>C | CA391080941 | EXOC3L4 | c.70A>C (p.Thr24Pro) c.244A>C (p.Thr82Pro) c.181A>C (p.Thr61Pro) n.799A>C n.826A>C | |
| 14 | g.103100289A>G | CA391080942 | EXOC3L4 | c.70A>G (p.Thr24Ala) c.244A>G (p.Thr82Ala) c.181A>G (p.Thr61Ala) n.799A>G n.826A>G | |
| 14 | g.103100289A>T | CA391080943 | EXOC3L4 | c.70A>T (p.Thr24Ser) c.244A>T (p.Thr82Ser) c.181A>T (p.Thr61Ser) n.799A>T n.826A>T | |
| 14 | g.103100290C>A | CA391080944 | EXOC3L4 | c.71C>A (p.Thr24Asn) c.245C>A (p.Thr82Asn) c.182C>A (p.Thr61Asn) n.800C>A n.827C>A | gnomAD v4 |
| 14 | g.103100290C= | CA2160139996 | EXOC3L4 | c.71C= (p.Thr24=) c.245C= (p.Thr82=) c.182C= (p.Thr61=) n.800C= n.827C= | |
| 14 | g.103100290C>G | CA391080945 | EXOC3L4 | c.71C>G (p.Thr24Ser) c.245C>G (p.Thr82Ser) c.182C>G (p.Thr61Ser) n.800C>G n.827C>G | |
| 14 | g.103100290C>T | CA7361795 | EXOC3L4 | c.71C>T (p.Thr24Ile) c.245C>T (p.Thr82Ile) c.182C>T (p.Thr61Ile) n.800C>T n.827C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100291T>A | CA488193697 | EXOC3L4 | c.72T>A (p.Thr24=) c.246T>A (p.Thr82=) c.183T>A (p.Thr61=) n.801T>A n.828T>A | |
| 14 | g.103100291T>C | CA488193700 | EXOC3L4 | c.72T>C (p.Thr24=) c.246T>C (p.Thr82=) c.183T>C (p.Thr61=) n.801T>C n.828T>C | |
| 14 | g.103100291T>G | CA488193702 | EXOC3L4 | c.72T>G (p.Thr24=) c.246T>G (p.Thr82=) c.183T>G (p.Thr61=) n.801T>G n.828T>G | gnomAD v4 |
| 14 | g.103100292C>A | CA391080947 | EXOC3L4 | c.73C>A (p.Pro25Thr) c.247C>A (p.Pro83Thr) c.184C>A (p.Pro62Thr) n.802C>A n.829C>A | dbSNP gnomAD v4 |
| 14 | g.103100292C= | CA2160139997 | EXOC3L4 | c.73C= (p.Pro25=) c.247C= (p.Pro83=) c.184C= (p.Pro62=) n.802C= n.829C= | |
| 14 | g.103100292C>G | CA391080948 | EXOC3L4 | c.73C>G (p.Pro25Ala) c.247C>G (p.Pro83Ala) c.184C>G (p.Pro62Ala) n.802C>G n.829C>G | |
| 14 | g.103100292C>T | CA391080946 | EXOC3L4 | c.73C>T (p.Pro25Ser) c.247C>T (p.Pro83Ser) c.184C>T (p.Pro62Ser) n.802C>T n.829C>T | |
| 14 | g.103100293C>A | CA391080951 | EXOC3L4 | c.74C>A (p.Pro25Gln) c.248C>A (p.Pro83Gln) c.185C>A (p.Pro62Gln) n.803C>A n.830C>A | gnomAD v4 |
| 14 | g.103100293C>G | CA391080949 | EXOC3L4 | c.74C>G (p.Pro25Arg) c.248C>G (p.Pro83Arg) c.185C>G (p.Pro62Arg) n.803C>G n.830C>G | |
| 14 | g.103100293C>T | CA391080950 | EXOC3L4 | c.74C>T (p.Pro25Leu) c.248C>T (p.Pro83Leu) c.185C>T (p.Pro62Leu) n.803C>T n.830C>T | gnomAD v4 |
| 14 | g.103100294A>C | CA488193706 | EXOC3L4 | c.75A>C (p.Pro25=) c.249A>C (p.Pro83=) c.186A>C (p.Pro62=) n.804A>C n.831A>C | |
| 14 | g.103100294A>G | CA488193711 | EXOC3L4 | c.75A>G (p.Pro25=) c.249A>G (p.Pro83=) c.186A>G (p.Pro62=) n.804A>G n.831A>G | gnomAD v4 |
| 14 | g.103100294A>T | CA488193714 | EXOC3L4 | c.75A>T (p.Pro25=) c.249A>T (p.Pro83=) c.186A>T (p.Pro62=) n.804A>T n.831A>T | |
| 14 | g.103100295G>A | CA391080952 | EXOC3L4 | c.76G>A (p.Ala26Thr) c.250G>A (p.Ala84Thr) c.187G>A (p.Ala63Thr) n.805G>A n.832G>A | gnomAD v4 |
| 14 | g.103100295G>C | CA7361796 | EXOC3L4 | c.76G>C (p.Ala26Pro) c.250G>C (p.Ala84Pro) c.187G>C (p.Ala63Pro) n.805G>C n.832G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100295G= | CA2160139998 | EXOC3L4 | c.76G= (p.Ala26=) c.250G= (p.Ala84=) c.187G= (p.Ala63=) n.805G= n.832G= | |
| 14 | g.103100295G>T | CA391080953 | EXOC3L4 | c.76G>T (p.Ala26Ser) c.250G>T (p.Ala84Ser) c.187G>T (p.Ala63Ser) n.805G>T n.832G>T | gnomAD v4 |
| 14 | g.103100296C>A | CA391080954 | EXOC3L4 | c.77C>A (p.Ala26Asp) c.251C>A (p.Ala84Asp) c.188C>A (p.Ala63Asp) n.806C>A n.833C>A | gnomAD v4 |
| 14 | g.103100296C>G | CA391080955 | EXOC3L4 | c.77C>G (p.Ala26Gly) c.251C>G (p.Ala84Gly) c.188C>G (p.Ala63Gly) n.806C>G n.833C>G | |
| 14 | g.103100296C>T | CA391080956 | EXOC3L4 | c.77C>T (p.Ala26Val) c.251C>T (p.Ala84Val) c.188C>T (p.Ala63Val) n.806C>T n.833C>T | gnomAD v4 |
| 14 | g.103100297T>A | CA488193722 | EXOC3L4 | c.78T>A (p.Ala26=) c.252T>A (p.Ala84=) c.189T>A (p.Ala63=) n.807T>A n.834T>A | |
| 14 | g.103100297T>C | CA488193723 | EXOC3L4 | c.78T>C (p.Ala26=) c.252T>C (p.Ala84=) c.189T>C (p.Ala63=) n.807T>C n.834T>C | |
| 14 | g.103100297T>G | CA488193724 | EXOC3L4 | c.78T>G (p.Ala26=) c.252T>G (p.Ala84=) c.189T>G (p.Ala63=) n.807T>G n.834T>G | |
| 14 | g.103100298C>A | CA391080957 | EXOC3L4 | c.79C>A (p.Gln27Lys) c.253C>A (p.Gln85Lys) c.190C>A (p.Gln64Lys) n.808C>A n.835C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100298C= | CA2160139999 | EXOC3L4 | c.79C= (p.Gln27=) c.253C= (p.Gln85=) c.190C= (p.Gln64=) n.808C= n.835C= | |
| 14 | g.103100298C>G | CA391080958 | EXOC3L4 | c.79C>G (p.Gln27Glu) c.253C>G (p.Gln85Glu) c.190C>G (p.Gln64Glu) n.808C>G n.835C>G | |
| 14 | g.103100298C>T | CA391080959 | EXOC3L4 | c.79C>T (p.Gln27Ter) c.253C>T (p.Gln85Ter) c.190C>T (p.Gln64Ter) n.808C>T n.835C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100299A>C | CA391080960 | EXOC3L4 | c.80A>C (p.Gln27Pro) c.254A>C (p.Gln85Pro) c.191A>C (p.Gln64Pro) n.809A>C n.836A>C | |
| 14 | g.103100299A>G | CA391080961 | EXOC3L4 | c.80A>G (p.Gln27Arg) c.254A>G (p.Gln85Arg) c.191A>G (p.Gln64Arg) n.809A>G n.836A>G | dbSNP gnomAD v4 |
| 14 | g.103100299A>T | CA391080962 | EXOC3L4 | c.80A>T (p.Gln27Leu) c.254A>T (p.Gln85Leu) c.191A>T (p.Gln64Leu) n.809A>T n.836A>T | |
| 14 | g.103100300G>A | CA488193732 | EXOC3L4 | c.81G>A (p.Gln27=) c.255G>A (p.Gln85=) c.192G>A (p.Gln64=) n.810G>A n.837G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100300G>C | CA391080963 | EXOC3L4 | c.81G>C (p.Gln27His) c.255G>C (p.Gln85His) c.192G>C (p.Gln64His) n.810G>C n.837G>C | dbSNP |
| 14 | g.103100300G= | CA2160140000 | EXOC3L4 | c.81G= (p.Gln27=) c.255G= (p.Gln85=) c.192G= (p.Gln64=) n.810G= n.837G= | |
| 14 | g.103100300G>T | CA391080964 | EXOC3L4 | c.81G>T (p.Gln27His) c.255G>T (p.Gln85His) c.192G>T (p.Gln64His) n.810G>T n.837G>T | gnomAD v4 |
| 14 | g.103100302del | CA488193735 | EXOC3L4 | c.83del (p.Gly28AlafsTer26) c.257del (p.Gly86AlafsTer26) c.194del (p.Gly65AlafsTer26) n.812del n.839del | |
| 14 | g.103100301G>A | CA391080965 | EXOC3L4 | c.82G>A (p.Gly28Ser) c.256G>A (p.Gly86Ser) c.193G>A (p.Gly65Ser) n.811G>A n.838G>A | dbSNP gnomAD v2 |
| 14 | g.103100301G>C | CA391080966 | EXOC3L4 | c.82G>C (p.Gly28Arg) c.256G>C (p.Gly86Arg) c.193G>C (p.Gly65Arg) n.811G>C n.838G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100301G= | CA2160140001 | EXOC3L4 | c.82G= (p.Gly28=) c.256G= (p.Gly86=) c.193G= (p.Gly65=) n.811G= n.838G= | |
| 14 | g.103100301G>T | CA391080967 | EXOC3L4 | c.82G>T (p.Gly28Cys) c.256G>T (p.Gly86Cys) c.193G>T (p.Gly65Cys) n.811G>T n.838G>T | gnomAD v4 |
| 14 | g.103100302G>A | CA391080968 | EXOC3L4 | c.83G>A (p.Gly28Asp) c.257G>A (p.Gly86Asp) c.194G>A (p.Gly65Asp) n.812G>A n.839G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100302G>C | CA391080969 | EXOC3L4 | c.83G>C (p.Gly28Ala) c.257G>C (p.Gly86Ala) c.194G>C (p.Gly65Ala) n.812G>C n.839G>C | |
| 14 | g.103100302G= | CA2160140002 | EXOC3L4 | c.83G= (p.Gly28=) c.257G= (p.Gly86=) c.194G= (p.Gly65=) n.812G= n.839G= | |
| 14 | g.103100302G>T | CA391080970 | EXOC3L4 | c.83G>T (p.Gly28Val) c.257G>T (p.Gly86Val) c.194G>T (p.Gly65Val) n.812G>T n.839G>T | dbSNP gnomAD v4 |
| 14 | g.103100303C>A | CA7361797 | EXOC3L4 | c.84C>A (p.Gly28=) c.258C>A (p.Gly86=) c.195C>A (p.Gly65=) n.813C>A n.840C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100303C= | CA2160140003 | EXOC3L4 | c.84C= (p.Gly28=) c.258C= (p.Gly86=) c.195C= (p.Gly65=) n.813C= n.840C= | |
| 14 | g.103100303C>G | CA488193739 | EXOC3L4 | c.84C>G (p.Gly28=) c.258C>G (p.Gly86=) c.195C>G (p.Gly65=) n.813C>G n.840C>G | |
| 14 | g.103100303C>T | CA488193740 | EXOC3L4 | c.84C>T (p.Gly28=) c.258C>T (p.Gly86=) c.195C>T (p.Gly65=) n.813C>T n.840C>T | |
| 14 | g.103100304T>A | CA391080971 | EXOC3L4 | c.85T>A (p.Ser29Thr) c.259T>A (p.Ser87Thr) c.196T>A (p.Ser66Thr) n.814T>A n.841T>A | |
| 14 | g.103100304T>C | CA391080972 | EXOC3L4 | c.85T>C (p.Ser29Pro) c.259T>C (p.Ser87Pro) c.196T>C (p.Ser66Pro) n.814T>C n.841T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100304T>G | CA391080973 | EXOC3L4 | c.85T>G (p.Ser29Ala) c.259T>G (p.Ser87Ala) c.196T>G (p.Ser66Ala) n.814T>G n.841T>G | |
| 14 | g.103100304T= | CA2160140004 | EXOC3L4 | c.85T= (p.Ser29=) c.259T= (p.Ser87=) c.196T= (p.Ser66=) n.814T= n.841T= | |
| 14 | g.103100305C>A | CA391080974 | EXOC3L4 | c.86C>A (p.Ser29Tyr) c.260C>A (p.Ser87Tyr) c.197C>A (p.Ser66Tyr) n.815C>A n.842C>A | gnomAD v4 |
| 14 | g.103100305C>G | CA391080975 | EXOC3L4 | c.86C>G (p.Ser29Cys) c.260C>G (p.Ser87Cys) c.197C>G (p.Ser66Cys) n.815C>G n.842C>G | gnomAD v4 |
| 14 | g.103100305C>T | CA391080976 | EXOC3L4 | c.86C>T (p.Ser29Phe) c.260C>T (p.Ser87Phe) c.197C>T (p.Ser66Phe) n.815C>T n.842C>T | gnomAD v4 |
| 14 | g.103100307del | CA2626692195 | EXOC3L4 | c.88del (p.Arg30GlyfsTer24) c.262del (p.Arg88GlyfsTer24) c.199del (p.Arg67GlyfsTer24) n.817del n.844del | gnomAD v4 |
| 14 | g.103100306C>A | CA488193745 | EXOC3L4 | c.87C>A (p.Ser29=) c.261C>A (p.Ser87=) c.198C>A (p.Ser66=) n.816C>A n.843C>A | |
| 14 | g.103100306C>G | CA488193747 | EXOC3L4 | c.87C>G (p.Ser29=) c.261C>G (p.Ser87=) c.198C>G (p.Ser66=) n.816C>G n.843C>G | |
| 14 | g.103100306C>T | CA488193746 | EXOC3L4 | c.87C>T (p.Ser29=) c.261C>T (p.Ser87=) c.198C>T (p.Ser66=) n.816C>T n.843C>T | gnomAD v4 |
| 14 | g.103100307C>A | CA488193749 | EXOC3L4 | c.88C>A (p.Arg30=) c.262C>A (p.Arg88=) c.199C>A (p.Arg67=) n.817C>A n.844C>A | |
| 14 | g.103100307C= | CA2160140005 | EXOC3L4 | c.88C= (p.Arg30=) c.262C= (p.Arg88=) c.199C= (p.Arg67=) n.817C= n.844C= | |
| 14 | g.103100307C>G | CA7361799 | EXOC3L4 | c.88C>G (p.Arg30Gly) c.262C>G (p.Arg88Gly) c.199C>G (p.Arg67Gly) n.817C>G n.844C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100307C>T | CA7361798 | EXOC3L4 | c.88C>T (p.Arg30Trp) c.262C>T (p.Arg88Trp) c.199C>T (p.Arg67Trp) n.817C>T n.844C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100308G>A | CA7361800 | EXOC3L4 | c.89G>A (p.Arg30Gln) c.263G>A (p.Arg88Gln) c.200G>A (p.Arg67Gln) n.818G>A n.845G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100308G>C | CA391080977 | EXOC3L4 | c.89G>C (p.Arg30Pro) c.263G>C (p.Arg88Pro) c.200G>C (p.Arg67Pro) n.818G>C n.845G>C | |
| 14 | g.103100308G= | CA2160140006 | EXOC3L4 | c.89G= (p.Arg30=) c.263G= (p.Arg88=) c.200G= (p.Arg67=) n.818G= n.845G= | |
| 14 | g.103100308G>T | CA391080978 | EXOC3L4 | c.89G>T (p.Arg30Leu) c.263G>T (p.Arg88Leu) c.200G>T (p.Arg67Leu) n.818G>T n.845G>T | gnomAD v4 |
| 14 | g.103100309G>A | CA488193755 | EXOC3L4 | c.90G>A (p.Arg30=) c.264G>A (p.Arg88=) c.201G>A (p.Arg67=) n.819G>A n.846G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100309G>C | CA488193756 | EXOC3L4 | c.90G>C (p.Arg30=) c.264G>C (p.Arg88=) c.201G>C (p.Arg67=) n.819G>C n.846G>C | |
| 14 | g.103100309G= | CA2160140007 | EXOC3L4 | c.90G= (p.Arg30=) c.264G= (p.Arg88=) c.201G= (p.Arg67=) n.819G= n.846G= | |
| 14 | g.103100309G>T | CA488193757 | EXOC3L4 | c.90G>T (p.Arg30=) c.264G>T (p.Arg88=) c.201G>T (p.Arg67=) n.819G>T n.846G>T | gnomAD v4 |
| 14 | g.103100310C>A | CA7361802 | EXOC3L4 | c.91C>A (p.Arg31=) c.265C>A (p.Arg89=) c.202C>A (p.Arg68=) n.820C>A n.847C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100310C= | CA2160140008 | EXOC3L4 | c.91C= (p.Arg31=) c.265C= (p.Arg89=) c.202C= (p.Arg68=) n.820C= n.847C= | |
| 14 | g.103100310C>G | CA391080979 | EXOC3L4 | c.91C>G (p.Arg31Gly) c.265C>G (p.Arg89Gly) c.202C>G (p.Arg68Gly) n.820C>G n.847C>G | dbSNP |
| 14 | g.103100310C>T | CA7361801 | EXOC3L4 | c.91C>T (p.Arg31Ter) c.265C>T (p.Arg89Ter) c.202C>T (p.Arg68Ter) n.820C>T n.847C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.103100311G>A | CA7361803 | EXOC3L4 | c.92G>A (p.Arg31Gln) c.266G>A (p.Arg89Gln) c.203G>A (p.Arg68Gln) n.821G>A n.848G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100311G>C | CA391080980 | EXOC3L4 | c.92G>C (p.Arg31Pro) c.266G>C (p.Arg89Pro) c.203G>C (p.Arg68Pro) n.821G>C n.848G>C | gnomAD v4 |
| 14 | g.103100311G= | CA2160140009 | EXOC3L4 | c.92G= (p.Arg31=) c.266G= (p.Arg89=) c.203G= (p.Arg68=) n.821G= n.848G= | |
| 14 | g.103100311G>T | CA391080981 | EXOC3L4 | c.92G>T (p.Arg31Leu) c.266G>T (p.Arg89Leu) c.203G>T (p.Arg68Leu) n.821G>T n.848G>T | gnomAD v4 |
| 14 | g.103100312A>C | CA488193761 | EXOC3L4 | c.93A>C (p.Arg31=) c.267A>C (p.Arg89=) c.204A>C (p.Arg68=) n.822A>C n.849A>C | |
| 14 | g.103100312A>G | CA488193762 | EXOC3L4 | c.93A>G (p.Arg31=) c.267A>G (p.Arg89=) c.204A>G (p.Arg68=) n.822A>G n.849A>G | |
| 14 | g.103100312A>T | CA488193763 | EXOC3L4 | c.93A>T (p.Arg31=) c.267A>T (p.Arg89=) c.204A>T (p.Arg68=) n.822A>T n.849A>T | |
| 14 | g.103100313A>C | CA391080982 | EXOC3L4 | c.94A>C (p.Thr32Pro) c.268A>C (p.Thr90Pro) c.205A>C (p.Thr69Pro) n.823A>C n.850A>C | |
| 14 | g.103100313A>G | CA391080983 | EXOC3L4 | c.94A>G (p.Thr32Ala) c.268A>G (p.Thr90Ala) c.205A>G (p.Thr69Ala) n.823A>G n.850A>G | |
| 14 | g.103100313A>T | CA391080984 | EXOC3L4 | c.94A>T (p.Thr32Ser) c.268A>T (p.Thr90Ser) c.205A>T (p.Thr69Ser) n.823A>T n.850A>T | |
| 14 | g.103100314C>A | CA391080986 | EXOC3L4 | c.95C>A (p.Thr32Lys) c.269C>A (p.Thr90Lys) c.206C>A (p.Thr69Lys) n.824C>A n.851C>A | gnomAD v4 |
| 14 | g.103100314C>G | CA391080987 | EXOC3L4 | c.95C>G (p.Thr32Arg) c.269C>G (p.Thr90Arg) c.206C>G (p.Thr69Arg) n.824C>G n.851C>G | |
| 14 | g.103100314C>T | CA391080985 | EXOC3L4 | c.95C>T (p.Thr32Ile) c.269C>T (p.Thr90Ile) c.206C>T (p.Thr69Ile) n.824C>T n.851C>T | gnomAD v4 |
| 14 | g.103100315A>C | CA488193567 | EXOC3L4 | c.96A>C (p.Thr32=) c.270A>C (p.Thr90=) c.207A>C (p.Thr69=) n.825A>C n.852A>C | |
| 14 | g.103100315A>G | CA488193568 | EXOC3L4 | c.96A>G (p.Thr32=) c.270A>G (p.Thr90=) c.207A>G (p.Thr69=) n.825A>G n.852A>G | |
| 14 | g.103100315A>T | CA488193569 | EXOC3L4 | c.96A>T (p.Thr32=) c.270A>T (p.Thr90=) c.207A>T (p.Thr69=) n.825A>T n.852A>T | |
| 14 | g.103100316A>C | CA391080988 | EXOC3L4 | c.97A>C (p.Ser33Arg) c.271A>C (p.Ser91Arg) c.208A>C (p.Ser70Arg) n.826A>C n.853A>C | |
| 14 | g.103100316A>G | CA391080989 | EXOC3L4 | c.97A>G (p.Ser33Gly) c.271A>G (p.Ser91Gly) c.208A>G (p.Ser70Gly) n.826A>G n.853A>G | |
| 14 | g.103100316A>T | CA391080990 | EXOC3L4 | c.97A>T (p.Ser33Cys) c.271A>T (p.Ser91Cys) c.208A>T (p.Ser70Cys) n.826A>T n.853A>T | |
| 14 | g.103100317G>A | CA391080991 | EXOC3L4 | c.98G>A (p.Ser33Asn) c.272G>A (p.Ser91Asn) c.209G>A (p.Ser70Asn) n.827G>A n.854G>A | |
| 14 | g.103100317G>C | CA391080992 | EXOC3L4 | c.98G>C (p.Ser33Thr) c.272G>C (p.Ser91Thr) c.209G>C (p.Ser70Thr) n.827G>C n.854G>C | |
| 14 | g.103100317G>T | CA391080993 | EXOC3L4 | c.98G>T (p.Ser33Ile) c.272G>T (p.Ser91Ile) c.209G>T (p.Ser70Ile) n.827G>T n.854G>T | |
| 14 | g.103100318C>A | CA391080994 | EXOC3L4 | c.99C>A (p.Ser33Arg) c.273C>A (p.Ser91Arg) c.210C>A (p.Ser70Arg) n.828C>A n.855C>A | |
| 14 | g.103100318C>G | CA391080995 | EXOC3L4 | c.99C>G (p.Ser33Arg) c.273C>G (p.Ser91Arg) c.210C>G (p.Ser70Arg) n.828C>G n.855C>G | |
| 14 | g.103100318C>T | CA488193575 | EXOC3L4 | c.99C>T (p.Ser33=) c.273C>T (p.Ser91=) c.210C>T (p.Ser70=) n.828C>T n.855C>T | gnomAD v4 |
| 14 | g.103100319A= | CA2160140010 | EXOC3L4 | c.100A= (p.Ser34=) c.274A= (p.Ser92=) c.211A= (p.Ser71=) n.829A= n.856A= | |
| 14 | g.103100319A>C | CA391080996 | EXOC3L4 | c.100A>C (p.Ser34Arg) c.274A>C (p.Ser92Arg) c.211A>C (p.Ser71Arg) n.829A>C n.856A>C | dbSNP |
| 14 | g.103100319A>G | CA391080997 | EXOC3L4 | c.100A>G (p.Ser34Gly) c.274A>G (p.Ser92Gly) c.211A>G (p.Ser71Gly) n.829A>G n.856A>G | dbSNP |
| 14 | g.103100319A>T | CA391080998 | EXOC3L4 | c.100A>T (p.Ser34Cys) c.274A>T (p.Ser92Cys) c.211A>T (p.Ser71Cys) n.829A>T n.856A>T | |
| 14 | g.103100320G>A | CA391080999 | EXOC3L4 | c.101G>A (p.Ser34Asn) c.275G>A (p.Ser92Asn) c.212G>A (p.Ser71Asn) n.830G>A n.857G>A | gnomAD v4 |
| 14 | g.103100320G>C | CA391081000 | EXOC3L4 | c.101G>C (p.Ser34Thr) c.275G>C (p.Ser92Thr) c.212G>C (p.Ser71Thr) n.830G>C n.857G>C | |
| 14 | g.103100320G>T | CA391081001 | EXOC3L4 | c.101G>T (p.Ser34Ile) c.275G>T (p.Ser92Ile) c.212G>T (p.Ser71Ile) n.830G>T n.857G>T | gnomAD v4 |
| 14 | g.103100321C>A | CA391081002 | EXOC3L4 | c.102C>A (p.Ser34Arg) c.276C>A (p.Ser92Arg) c.213C>A (p.Ser71Arg) n.831C>A n.858C>A | gnomAD v4 |
| 14 | g.103100321C= | CA2160140011 | EXOC3L4 | c.102C= (p.Ser34=) c.276C= (p.Ser92=) c.213C= (p.Ser71=) n.831C= n.858C= | |
| 14 | g.103100321C>G | CA391081003 | EXOC3L4 | c.102C>G (p.Ser34Arg) c.276C>G (p.Ser92Arg) c.213C>G (p.Ser71Arg) n.831C>G n.858C>G | |
| 14 | g.103100321C>T | CA488193580 | EXOC3L4 | c.102C>T (p.Ser34=) c.276C>T (p.Ser92=) c.213C>T (p.Ser71=) n.831C>T n.858C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100322A>C | CA488193581 | EXOC3L4 | c.103A>C (p.Arg35=) c.277A>C (p.Arg93=) c.214A>C (p.Arg72=) n.832A>C n.859A>C | |
| 14 | g.103100322A>G | CA391081004 | EXOC3L4 | c.103A>G (p.Arg35Gly) c.277A>G (p.Arg93Gly) c.214A>G (p.Arg72Gly) n.832A>G n.859A>G | |
| 14 | g.103100322A>T | CA391081005 | EXOC3L4 | c.103A>T (p.Arg35Trp) c.277A>T (p.Arg93Trp) c.214A>T (p.Arg72Trp) n.832A>T n.859A>T | gnomAD v4 |
| 14 | g.103100323G>A | CA391081006 | EXOC3L4 | c.104G>A (p.Arg35Lys) c.278G>A (p.Arg93Lys) c.215G>A (p.Arg72Lys) n.833G>A n.860G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100323G>C | CA391081008 | EXOC3L4 | c.104G>C (p.Arg35Thr) c.278G>C (p.Arg93Thr) c.215G>C (p.Arg72Thr) n.833G>C n.860G>C | |
| 14 | g.103100323G= | CA2160140012 | EXOC3L4 | c.104G= (p.Arg35=) c.278G= (p.Arg93=) c.215G= (p.Arg72=) n.833G= n.860G= | |
| 14 | g.103100323G>T | CA391081007 | EXOC3L4 | c.104G>T (p.Arg35Met) c.278G>T (p.Arg93Met) c.215G>T (p.Arg72Met) n.833G>T n.860G>T | |
| 14 | g.103100324G>A | CA488193586 | EXOC3L4 | c.105G>A (p.Arg35=) c.279G>A (p.Arg93=) c.216G>A (p.Arg72=) n.834G>A n.861G>A | |
| 14 | g.103100324G>C | CA391081009 | EXOC3L4 | c.105G>C (p.Arg35Ser) c.279G>C (p.Arg93Ser) c.216G>C (p.Arg72Ser) n.834G>C n.861G>C | |
| 14 | g.103100324G>T | CA391081010 | EXOC3L4 | c.105G>T (p.Arg35Ser) c.279G>T (p.Arg93Ser) c.216G>T (p.Arg72Ser) n.834G>T n.861G>T | gnomAD v4 |
| 14 | g.103100325A>C | CA391081011 | EXOC3L4 | c.106A>C (p.Lys36Gln) c.280A>C (p.Lys94Gln) c.217A>C (p.Lys73Gln) n.835A>C n.862A>C | gnomAD v4 |
| 14 | g.103100325A>G | CA391081012 | EXOC3L4 | c.106A>G (p.Lys36Glu) c.280A>G (p.Lys94Glu) c.217A>G (p.Lys73Glu) n.835A>G n.862A>G | |
| 14 | g.103100325A>T | CA391081013 | EXOC3L4 | c.106A>T (p.Lys36Ter) c.280A>T (p.Lys94Ter) c.217A>T (p.Lys73Ter) n.835A>T n.862A>T | |
| 14 | g.103100326A>C | CA391081014 | EXOC3L4 | c.107A>C (p.Lys36Thr) c.281A>C (p.Lys94Thr) c.218A>C (p.Lys73Thr) n.836A>C n.863A>C | |
| 14 | g.103100326A>G | CA391081015 | EXOC3L4 | c.107A>G (p.Lys36Arg) c.281A>G (p.Lys94Arg) c.218A>G (p.Lys73Arg) n.836A>G n.863A>G | |
| 14 | g.103100326A>T | CA391081016 | EXOC3L4 | c.107A>T (p.Lys36Ile) c.281A>T (p.Lys94Ile) c.218A>T (p.Lys73Ile) n.836A>T n.863A>T | |
| 14 | g.103100327A>C | CA391081017 | EXOC3L4 | c.108A>C (p.Lys36Asn) c.282A>C (p.Lys94Asn) c.219A>C (p.Lys73Asn) n.837A>C n.864A>C | |
| 14 | g.103100327A>G | CA488193591 | EXOC3L4 | c.108A>G (p.Lys36=) c.282A>G (p.Lys94=) c.219A>G (p.Lys73=) n.837A>G n.864A>G | gnomAD v4 |
| 14 | g.103100327A>T | CA391081018 | EXOC3L4 | c.108A>T (p.Lys36Asn) c.282A>T (p.Lys94Asn) c.219A>T (p.Lys73Asn) n.837A>T n.864A>T | |
| 14 | g.103100328G>A | CA391081019 | EXOC3L4 | c.109G>A (p.Glu37Lys) c.1G>A (p.Glu1Lys) c.283G>A (p.Glu95Lys) c.220G>A (p.Glu74Lys) n.838G>A n.865G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100328G>C | CA391081020 | EXOC3L4 | c.109G>C (p.Glu37Gln) c.1G>C (p.Glu1Gln) c.283G>C (p.Glu95Gln) c.220G>C (p.Glu74Gln) n.838G>C n.865G>C | |
| 14 | g.103100328G= | CA2160140013 | EXOC3L4 | c.109G= (p.Glu37=) c.1G= (p.Glu1=) c.283G= (p.Glu95=) c.220G= (p.Glu74=) n.838G= n.865G= | |
| 14 | g.103100328G>T | CA391081021 | EXOC3L4 | c.109G>T (p.Glu37Ter) c.1G>T (p.Glu1Ter) c.283G>T (p.Glu95Ter) c.220G>T (p.Glu74Ter) n.838G>T n.865G>T | |
| 14 | g.103100329A>C | CA391081024 | EXOC3L4 | c.110A>C (p.Glu37Ala) c.2A>C (p.Glu1Ala) c.284A>C (p.Glu95Ala) c.221A>C (p.Glu74Ala) n.839A>C n.866A>C | |
| 14 | g.103100329A>G | CA391081022 | EXOC3L4 | c.110A>G (p.Glu37Gly) c.2A>G (p.Glu1Gly) c.284A>G (p.Glu95Gly) c.221A>G (p.Glu74Gly) n.839A>G n.866A>G | |
| 14 | g.103100329A>T | CA391081023 | EXOC3L4 | c.110A>T (p.Glu37Val) c.2A>T (p.Glu1Val) c.284A>T (p.Glu95Val) c.221A>T (p.Glu74Val) n.839A>T n.866A>T | |
| 14 | g.103100330G>A | CA488193596 | EXOC3L4 | c.111G>A (p.Glu37=) c.3G>A (p.Glu1=) c.285G>A (p.Glu95=) c.222G>A (p.Glu74=) n.840G>A n.867G>A | gnomAD v4 |
| 14 | g.103100330G>C | CA391081025 | EXOC3L4 | c.111G>C (p.Glu37Asp) c.3G>C (p.Glu1Asp) c.285G>C (p.Glu95Asp) c.222G>C (p.Glu74Asp) n.840G>C n.867G>C | |
| 14 | g.103100330G>T | CA391081026 | EXOC3L4 | c.111G>T (p.Glu37Asp) c.3G>T (p.Glu1Asp) c.285G>T (p.Glu95Asp) c.222G>T (p.Glu74Asp) n.840G>T n.867G>T | gnomAD v4 |
| 14 | g.103100331C>A | CA391081027 | EXOC3L4 | c.112C>A (p.Pro38Thr) c.4C>A (p.Pro2Thr) c.286C>A (p.Pro96Thr) c.223C>A (p.Pro75Thr) n.841C>A n.868C>A | gnomAD v4 |
| 14 | g.103100331C= | CA2160140014 | EXOC3L4 | c.112C= (p.Pro38=) c.4C= (p.Pro2=) c.286C= (p.Pro96=) c.223C= (p.Pro75=) n.841C= n.868C= | |
| 14 | g.103100331C>G | CA391081028 | EXOC3L4 | c.112C>G (p.Pro38Ala) c.4C>G (p.Pro2Ala) c.286C>G (p.Pro96Ala) c.223C>G (p.Pro75Ala) n.841C>G n.868C>G | |
| 14 | g.103100331C>T | CA267170762 | EXOC3L4 | c.112C>T (p.Pro38Ser) c.4C>T (p.Pro2Ser) c.286C>T (p.Pro96Ser) c.223C>T (p.Pro75Ser) n.841C>T n.868C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100332C>A | CA391081029 | EXOC3L4 | c.113C>A (p.Pro38His) c.5C>A (p.Pro2His) c.287C>A (p.Pro96His) c.224C>A (p.Pro75His) n.842C>A n.869C>A | |
| 14 | g.103100332C= | CA2160140015 | EXOC3L4 | c.113C= (p.Pro38=) c.5C= (p.Pro2=) c.287C= (p.Pro96=) c.224C= (p.Pro75=) n.842C= n.869C= | |
| 14 | g.103100332C>G | CA391081030 | EXOC3L4 | c.113C>G (p.Pro38Arg) c.5C>G (p.Pro2Arg) c.287C>G (p.Pro96Arg) c.224C>G (p.Pro75Arg) n.842C>G n.869C>G | |
| 14 | g.103100332C>T | CA391081031 | EXOC3L4 | c.113C>T (p.Pro38Leu) c.5C>T (p.Pro2Leu) c.287C>T (p.Pro96Leu) c.224C>T (p.Pro75Leu) n.842C>T n.869C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100333C>A | CA488193601 | EXOC3L4 | c.114C>A (p.Pro38=) c.6C>A (p.Pro2=) c.288C>A (p.Pro96=) c.225C>A (p.Pro75=) n.843C>A n.870C>A | gnomAD v4 |
| 14 | g.103100333C>G | CA488193604 | EXOC3L4 | c.114C>G (p.Pro38=) c.6C>G (p.Pro2=) c.288C>G (p.Pro96=) c.225C>G (p.Pro75=) n.843C>G n.870C>G | |
| 14 | g.103100333C>T | CA488193605 | EXOC3L4 | c.114C>T (p.Pro38=) c.6C>T (p.Pro2=) c.288C>T (p.Pro96=) c.225C>T (p.Pro75=) n.843C>T n.870C>T | |
| 14 | g.103100334A>C | CA391081032 | EXOC3L4 | c.115A>C (p.Asn39His) c.7A>C (p.Asn3His) c.289A>C (p.Asn97His) c.226A>C (p.Asn76His) n.844A>C n.871A>C | |
| 14 | g.103100334A>G | CA391081034 | EXOC3L4 | c.115A>G (p.Asn39Asp) c.7A>G (p.Asn3Asp) c.289A>G (p.Asn97Asp) c.226A>G (p.Asn76Asp) n.844A>G n.871A>G | |
| 14 | g.103100334A>T | CA391081036 | EXOC3L4 | c.115A>T (p.Asn39Tyr) c.7A>T (p.Asn3Tyr) c.289A>T (p.Asn97Tyr) c.226A>T (p.Asn76Tyr) n.844A>T n.871A>T | |
| 14 | g.103100335A= | CA2160140016 | EXOC3L4 | c.116A= (p.Asn39=) c.8A= (p.Asn3=) c.290A= (p.Asn97=) c.227A= (p.Asn76=) n.845A= n.872A= | |
| 14 | g.103100335A>C | CA391081039 | EXOC3L4 | c.116A>C (p.Asn39Thr) c.8A>C (p.Asn3Thr) c.290A>C (p.Asn97Thr) c.227A>C (p.Asn76Thr) n.845A>C n.872A>C | |
| 14 | g.103100335A>G | CA7361804 | EXOC3L4 | c.116A>G (p.Asn39Ser) c.8A>G (p.Asn3Ser) c.290A>G (p.Asn97Ser) c.227A>G (p.Asn76Ser) n.845A>G n.872A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100335A>T | CA391081038 | EXOC3L4 | c.116A>T (p.Asn39Ile) c.8A>T (p.Asn3Ile) c.290A>T (p.Asn97Ile) c.227A>T (p.Asn76Ile) n.845A>T n.872A>T | |
| 14 | g.103100336T>A | CA391081043 | EXOC3L4 | c.117T>A (p.Asn39Lys) c.9T>A (p.Asn3Lys) c.291T>A (p.Asn97Lys) c.228T>A (p.Asn76Lys) n.846T>A n.873T>A | |
| 14 | g.103100336T>C | CA488193609 | EXOC3L4 | c.117T>C (p.Asn39=) c.9T>C (p.Asn3=) c.291T>C (p.Asn97=) c.228T>C (p.Asn76=) n.846T>C n.873T>C | gnomAD v4 |
| 14 | g.103100336T>G | CA391081044 | EXOC3L4 | c.117T>G (p.Asn39Lys) c.9T>G (p.Asn3Lys) c.291T>G (p.Asn97Lys) c.228T>G (p.Asn76Lys) n.846T>G n.873T>G | |
| 14 | g.103100337G>A | CA391081047 | EXOC3L4 | c.118G>A (p.Ala40Thr) c.10G>A (p.Ala4Thr) c.292G>A (p.Ala98Thr) c.229G>A (p.Ala77Thr) n.847G>A n.874G>A | |
| 14 | g.103100337G>C | CA391081048 | EXOC3L4 | c.118G>C (p.Ala40Pro) c.10G>C (p.Ala4Pro) c.292G>C (p.Ala98Pro) c.229G>C (p.Ala77Pro) n.847G>C n.874G>C | gnomAD v4 |
| 14 | g.103100337G>T | CA391081051 | EXOC3L4 | c.118G>T (p.Ala40Ser) c.10G>T (p.Ala4Ser) c.292G>T (p.Ala98Ser) c.229G>T (p.Ala77Ser) n.847G>T n.874G>T | gnomAD v4 |
| 14 | g.103100338C>A | CA391081057 | EXOC3L4 | c.119C>A (p.Ala40Asp) c.11C>A (p.Ala4Asp) c.293C>A (p.Ala98Asp) c.230C>A (p.Ala77Asp) n.848C>A n.875C>A | |
| 14 | g.103100338C= | CA2160140017 | EXOC3L4 | c.119C= (p.Ala40=) c.11C= (p.Ala4=) c.293C= (p.Ala98=) c.230C= (p.Ala77=) n.848C= n.875C= | |
| 14 | g.103100338C>G | CA391081055 | EXOC3L4 | c.119C>G (p.Ala40Gly) c.11C>G (p.Ala4Gly) c.293C>G (p.Ala98Gly) c.230C>G (p.Ala77Gly) n.848C>G n.875C>G | |
| 14 | g.103100338C>T | CA391081054 | EXOC3L4 | c.119C>T (p.Ala40Val) c.11C>T (p.Ala4Val) c.293C>T (p.Ala98Val) c.230C>T (p.Ala77Val) n.848C>T n.875C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100339C>A | CA488193612 | EXOC3L4 | c.120C>A (p.Ala40=) c.12C>A (p.Ala4=) c.294C>A (p.Ala98=) c.231C>A (p.Ala77=) n.849C>A n.876C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100339C= | CA2160140018 | EXOC3L4 | c.120C= (p.Ala40=) c.12C= (p.Ala4=) c.294C= (p.Ala98=) c.231C= (p.Ala77=) n.849C= n.876C= | |
| 14 | g.103100339C>G | CA488193613 | EXOC3L4 | c.120C>G (p.Ala40=) c.12C>G (p.Ala4=) c.294C>G (p.Ala98=) c.231C>G (p.Ala77=) n.849C>G n.876C>G | |
| 14 | g.103100339C>T | CA488193614 | EXOC3L4 | c.120C>T (p.Ala40=) c.12C>T (p.Ala4=) c.294C>T (p.Ala98=) c.231C>T (p.Ala77=) n.849C>T n.876C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100340C>A | CA391081060 | EXOC3L4 | c.121C>A (p.His41Asn) c.13C>A (p.His5Asn) c.295C>A (p.His99Asn) c.232C>A (p.His78Asn) n.850C>A n.877C>A | |
| 14 | g.103100340C>G | CA391081062 | EXOC3L4 | c.121C>G (p.His41Asp) c.13C>G (p.His5Asp) c.295C>G (p.His99Asp) c.232C>G (p.His78Asp) n.850C>G n.877C>G | |
| 14 | g.103100340C>T | CA391081063 | EXOC3L4 | c.121C>T (p.His41Tyr) c.13C>T (p.His5Tyr) c.295C>T (p.His99Tyr) c.232C>T (p.His78Tyr) n.850C>T n.877C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100341A>C | CA391081065 | EXOC3L4 | c.122A>C (p.His41Pro) c.14A>C (p.His5Pro) c.296A>C (p.His99Pro) c.233A>C (p.His78Pro) n.851A>C n.878A>C | |
| 14 | g.103100341A>G | CA391081067 | EXOC3L4 | c.122A>G (p.His41Arg) c.14A>G (p.His5Arg) c.296A>G (p.His99Arg) c.233A>G (p.His78Arg) n.851A>G n.878A>G | |
| 14 | g.103100341A>T | CA391081069 | EXOC3L4 | c.122A>T (p.His41Leu) c.14A>T (p.His5Leu) c.296A>T (p.His99Leu) c.233A>T (p.His78Leu) n.851A>T n.878A>T | |
| 14 | g.103100342C>A | CA391081071 | EXOC3L4 | c.123C>A (p.His41Gln) c.15C>A (p.His5Gln) c.297C>A (p.His99Gln) c.234C>A (p.His78Gln) n.852C>A n.879C>A | dbSNP |
| 14 | g.103100342C= | CA2160140019 | EXOC3L4 | c.123C= (p.His41=) c.15C= (p.His5=) c.297C= (p.His99=) c.234C= (p.His78=) n.852C= n.879C= | |
| 14 | g.103100342C>G | CA391081074 | EXOC3L4 | c.123C>G (p.His41Gln) c.15C>G (p.His5Gln) c.297C>G (p.His99Gln) c.234C>G (p.His78Gln) n.852C>G n.879C>G | |
| 14 | g.103100342C>T | CA7361805 | EXOC3L4 | c.123C>T (p.His41=) c.15C>T (p.His5=) c.297C>T (p.His99=) c.234C>T (p.His78=) n.852C>T n.879C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100342_103100349del | CA2730322688 | EXOC3L4 | c.123_130del (p.His41GlnfsTer?) c.15_22del (p.His5GlnfsTer?) c.297_304del (p.His99GlnfsTer?) c.234_241del (p.His78GlnfsTer?) n.852_859del n.879_886del | dbSNP |
| 14 | g.103100343C>A | CA391081076 | EXOC3L4 | c.124C>A (p.Arg42Ser) c.16C>A (p.Arg6Ser) c.298C>A (p.Arg100Ser) c.235C>A (p.Arg79Ser) n.853C>A n.880C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100343C= | CA2160140020 | EXOC3L4 | c.124C= (p.Arg42=) c.16C= (p.Arg6=) c.298C= (p.Arg100=) c.235C= (p.Arg79=) n.853C= n.880C= | |
| 14 | g.103100343C>G | CA391081077 | EXOC3L4 | c.124C>G (p.Arg42Gly) c.16C>G (p.Arg6Gly) c.298C>G (p.Arg100Gly) c.235C>G (p.Arg79Gly) n.853C>G n.880C>G | |
| 14 | g.103100343C>T | CA7361806 | EXOC3L4 | c.124C>T (p.Arg42Cys) c.16C>T (p.Arg6Cys) c.298C>T (p.Arg100Cys) c.235C>T (p.Arg79Cys) n.853C>T n.880C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.103100344G>A | CA7361807 | EXOC3L4 | c.125G>A (p.Arg42His) c.17G>A (p.Arg6His) c.299G>A (p.Arg100His) c.236G>A (p.Arg79His) n.854G>A n.881G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100344G>C | CA391081082 | EXOC3L4 | c.125G>C (p.Arg42Pro) c.17G>C (p.Arg6Pro) c.299G>C (p.Arg100Pro) c.236G>C (p.Arg79Pro) n.854G>C n.881G>C | |
| 14 | g.103100344G= | CA2160140021 | EXOC3L4 | c.125G= (p.Arg42=) c.17G= (p.Arg6=) c.299G= (p.Arg100=) c.236G= (p.Arg79=) n.854G= n.881G= | |
| 14 | g.103100344G>T | CA391081084 | EXOC3L4 | c.125G>T (p.Arg42Leu) c.17G>T (p.Arg6Leu) c.299G>T (p.Arg100Leu) c.236G>T (p.Arg79Leu) n.854G>T n.881G>T | dbSNP |
| 14 | g.103100345C>A | CA488193620 | EXOC3L4 | c.126C>A (p.Arg42=) c.18C>A (p.Arg6=) c.300C>A (p.Arg100=) c.237C>A (p.Arg79=) n.855C>A n.882C>A | |
| 14 | g.103100345C>G | CA488193621 | EXOC3L4 | c.126C>G (p.Arg42=) c.18C>G (p.Arg6=) c.300C>G (p.Arg100=) c.237C>G (p.Arg79=) n.855C>G n.882C>G | |
| 14 | g.103100345C>T | CA488193622 | EXOC3L4 | c.126C>T (p.Arg42=) c.18C>T (p.Arg6=) c.300C>T (p.Arg100=) c.237C>T (p.Arg79=) n.855C>T n.882C>T | gnomAD v4 |
| 14 | g.103100346A>C | CA391081087 | EXOC3L4 | c.127A>C (p.Lys43Gln) c.19A>C (p.Lys7Gln) c.301A>C (p.Lys101Gln) c.238A>C (p.Lys80Gln) n.856A>C n.883A>C | |
| 14 | g.103100346A>G | CA391081088 | EXOC3L4 | c.127A>G (p.Lys43Glu) c.19A>G (p.Lys7Glu) c.301A>G (p.Lys101Glu) c.238A>G (p.Lys80Glu) n.856A>G n.883A>G | |
| 14 | g.103100346A>T | CA391081091 | EXOC3L4 | c.127A>T (p.Lys43Ter) c.19A>T (p.Lys7Ter) c.301A>T (p.Lys101Ter) c.238A>T (p.Lys80Ter) n.856A>T n.883A>T | |
| 14 | g.103100347A>C | CA391081093 | EXOC3L4 | c.128A>C (p.Lys43Thr) c.20A>C (p.Lys7Thr) c.302A>C (p.Lys101Thr) c.239A>C (p.Lys80Thr) n.857A>C n.884A>C | |
| 14 | g.103100347A>G | CA391081096 | EXOC3L4 | c.128A>G (p.Lys43Arg) c.20A>G (p.Lys7Arg) c.302A>G (p.Lys101Arg) c.239A>G (p.Lys80Arg) n.857A>G n.884A>G | |
| 14 | g.103100347A>T | CA391081098 | EXOC3L4 | c.128A>T (p.Lys43Met) c.20A>T (p.Lys7Met) c.302A>T (p.Lys101Met) c.239A>T (p.Lys80Met) n.857A>T n.884A>T | |
| 14 | g.103100348G>A | CA488193627 | EXOC3L4 | c.129G>A (p.Lys43=) c.21G>A (p.Lys7=) c.303G>A (p.Lys101=) c.240G>A (p.Lys80=) n.858G>A n.885G>A | |
| 14 | g.103100348G>C | CA391081100 | EXOC3L4 | c.129G>C (p.Lys43Asn) c.21G>C (p.Lys7Asn) c.303G>C (p.Lys101Asn) c.240G>C (p.Lys80Asn) n.858G>C n.885G>C | |
| 14 | g.103100348G>T | CA391081102 | EXOC3L4 | c.129G>T (p.Lys43Asn) c.21G>T (p.Lys7Asn) c.303G>T (p.Lys101Asn) c.240G>T (p.Lys80Asn) n.858G>T n.885G>T | |
| 14 | g.103100349G>A | CA391081105 | EXOC3L4 | c.130G>A (p.Asp44Asn) c.22G>A (p.Asp8Asn) c.304G>A (p.Asp102Asn) c.241G>A (p.Asp81Asn) n.859G>A n.886G>A | |
| 14 | g.103100349G>C | CA391081108 | EXOC3L4 | c.130G>C (p.Asp44His) c.22G>C (p.Asp8His) c.304G>C (p.Asp102His) c.241G>C (p.Asp81His) n.859G>C n.886G>C | |
| 14 | g.103100349G>T | CA391081106 | EXOC3L4 | c.130G>T (p.Asp44Tyr) c.22G>T (p.Asp8Tyr) c.304G>T (p.Asp102Tyr) c.241G>T (p.Asp81Tyr) n.859G>T n.886G>T | |
| 14 | g.103100350A>C | CA391081111 | EXOC3L4 | c.131A>C (p.Asp44Ala) c.23A>C (p.Asp8Ala) c.305A>C (p.Asp102Ala) c.242A>C (p.Asp81Ala) n.860A>C n.887A>C | |
| 14 | g.103100350A>G | CA391081112 | EXOC3L4 | c.131A>G (p.Asp44Gly) c.23A>G (p.Asp8Gly) c.305A>G (p.Asp102Gly) c.242A>G (p.Asp81Gly) n.860A>G n.887A>G | |
| 14 | g.103100350A>T | CA391081114 | EXOC3L4 | c.131A>T (p.Asp44Val) c.23A>T (p.Asp8Val) c.305A>T (p.Asp102Val) c.242A>T (p.Asp81Val) n.860A>T n.887A>T | |
| 14 | g.103100351T>A | CA391081115 | EXOC3L4 | c.132T>A (p.Asp44Glu) c.24T>A (p.Asp8Glu) c.306T>A (p.Asp102Glu) c.243T>A (p.Asp81Glu) n.861T>A n.888T>A | |
| 14 | g.103100351T>C | CA488193630 | EXOC3L4 | c.132T>C (p.Asp44=) c.24T>C (p.Asp8=) c.306T>C (p.Asp102=) c.243T>C (p.Asp81=) n.861T>C n.888T>C | |
| 14 | g.103100351T>G | CA391081118 | EXOC3L4 | c.132T>G (p.Asp44Glu) c.24T>G (p.Asp8Glu) c.306T>G (p.Asp102Glu) c.243T>G (p.Asp81Glu) n.861T>G n.888T>G | |
| 14 | g.103100352G>A | CA391081120 | EXOC3L4 | c.133G>A (p.Gly45Ser) c.25G>A (p.Gly9Ser) c.307G>A (p.Gly103Ser) c.244G>A (p.Gly82Ser) n.862G>A n.889G>A | |
| 14 | g.103100352G>C | CA391081122 | EXOC3L4 | c.133G>C (p.Gly45Arg) c.25G>C (p.Gly9Arg) c.307G>C (p.Gly103Arg) c.244G>C (p.Gly82Arg) n.862G>C n.889G>C | |
| 14 | g.103100352G>T | CA391081124 | EXOC3L4 | c.133G>T (p.Gly45Cys) c.25G>T (p.Gly9Cys) c.307G>T (p.Gly103Cys) c.244G>T (p.Gly82Cys) n.862G>T n.889G>T | gnomAD v4 |
| 14 | g.103100353G>A | CA391081126 | EXOC3L4 | c.134G>A (p.Gly45Asp) c.26G>A (p.Gly9Asp) c.308G>A (p.Gly103Asp) c.245G>A (p.Gly82Asp) n.863G>A n.890G>A | gnomAD v4 |
| 14 | g.103100353G>C | CA391081128 | EXOC3L4 | c.134G>C (p.Gly45Ala) c.26G>C (p.Gly9Ala) c.308G>C (p.Gly103Ala) c.245G>C (p.Gly82Ala) n.863G>C n.890G>C | |
| 14 | g.103100353G>T | CA391081130 | EXOC3L4 | c.134G>T (p.Gly45Val) c.26G>T (p.Gly9Val) c.308G>T (p.Gly103Val) c.245G>T (p.Gly82Val) n.863G>T n.890G>T | |
| 14 | g.103100354C>A | CA488193632 | EXOC3L4 | c.135C>A (p.Gly45=) c.27C>A (p.Gly9=) c.309C>A (p.Gly103=) c.246C>A (p.Gly82=) n.864C>A n.891C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100354C= | CA2160140022 | EXOC3L4 | c.135C= (p.Gly45=) c.27C= (p.Gly9=) c.309C= (p.Gly103=) c.246C= (p.Gly82=) n.864C= n.891C= | |
| 14 | g.103100354C>G | CA488193651 | EXOC3L4 | c.135C>G (p.Gly45=) c.27C>G (p.Gly9=) c.309C>G (p.Gly103=) c.246C>G (p.Gly82=) n.864C>G n.891C>G | gnomAD v4 |
| 14 | g.103100354C>T | CA488193652 | EXOC3L4 | c.135C>T (p.Gly45=) c.27C>T (p.Gly9=) c.309C>T (p.Gly103=) c.246C>T (p.Gly82=) n.864C>T n.891C>T | dbSNP gnomAD v4 |
| 14 | g.103100355A>C | CA391081137 | EXOC3L4 | c.136A>C (p.Thr46Pro) c.28A>C (p.Thr10Pro) c.310A>C (p.Thr104Pro) c.247A>C (p.Thr83Pro) n.865A>C n.892A>C | |
| 14 | g.103100355A>G | CA391081135 | EXOC3L4 | c.136A>G (p.Thr46Ala) c.28A>G (p.Thr10Ala) c.310A>G (p.Thr104Ala) c.247A>G (p.Thr83Ala) n.865A>G n.892A>G | |
| 14 | g.103100355A>T | CA391081133 | EXOC3L4 | c.136A>T (p.Thr46Ser) c.28A>T (p.Thr10Ser) c.310A>T (p.Thr104Ser) c.247A>T (p.Thr83Ser) n.865A>T n.892A>T | |
| 14 | g.103100356C>A | CA391081139 | EXOC3L4 | c.137C>A (p.Thr46Lys) c.29C>A (p.Thr10Lys) c.311C>A (p.Thr104Lys) c.248C>A (p.Thr83Lys) n.866C>A n.893C>A | |
| 14 | g.103100356C= | CA2160140023 | EXOC3L4 | c.137C= (p.Thr46=) c.29C= (p.Thr10=) c.311C= (p.Thr104=) c.248C= (p.Thr83=) n.866C= n.893C= | |
| 14 | g.103100356C>G | CA391081140 | EXOC3L4 | c.137C>G (p.Thr46Arg) c.29C>G (p.Thr10Arg) c.311C>G (p.Thr104Arg) c.248C>G (p.Thr83Arg) n.866C>G n.893C>G | |
| 14 | g.103100356C>T | CA391081142 | EXOC3L4 | c.137C>T (p.Thr46Ile) c.29C>T (p.Thr10Ile) c.311C>T (p.Thr104Ile) c.248C>T (p.Thr83Ile) n.866C>T n.893C>T | dbSNP gnomAD v4 |
| 14 | g.103100357A>C | CA488193657 | EXOC3L4 | c.138A>C (p.Thr46=) c.30A>C (p.Thr10=) c.312A>C (p.Thr104=) c.249A>C (p.Thr83=) n.867A>C n.894A>C | |
| 14 | g.103100357A>G | CA488193656 | EXOC3L4 | c.138A>G (p.Thr46=) c.30A>G (p.Thr10=) c.312A>G (p.Thr104=) c.249A>G (p.Thr83=) n.867A>G n.894A>G | gnomAD v4 |
| 14 | g.103100357A>T | CA488193655 | EXOC3L4 | c.138A>T (p.Thr46=) c.30A>T (p.Thr10=) c.312A>T (p.Thr104=) c.249A>T (p.Thr83=) n.867A>T n.894A>T | |
| 14 | g.103100358A= | CA2160140024 | EXOC3L4 | c.139A= (p.Arg47=) c.31A= (p.Arg11=) c.313A= (p.Arg105=) c.250A= (p.Arg84=) n.868A= n.895A= | |
| 14 | g.103100358A>C | CA488193660 | EXOC3L4 | c.139A>C (p.Arg47=) c.31A>C (p.Arg11=) c.313A>C (p.Arg105=) c.250A>C (p.Arg84=) n.868A>C n.895A>C | |
| 14 | g.103100358A>G | CA391081144 | EXOC3L4 | c.139A>G (p.Arg47Gly) c.31A>G (p.Arg11Gly) c.313A>G (p.Arg105Gly) c.250A>G (p.Arg84Gly) n.868A>G n.895A>G | dbSNP gnomAD v2 |
| 14 | g.103100358A>T | CA391081146 | EXOC3L4 | c.139A>T (p.Arg47Trp) c.31A>T (p.Arg11Trp) c.313A>T (p.Arg105Trp) c.250A>T (p.Arg84Trp) n.868A>T n.895A>T | |
| 14 | g.103100359G>A | CA7361808 | EXOC3L4 | c.140G>A (p.Arg47Lys) c.32G>A (p.Arg11Lys) c.314G>A (p.Arg105Lys) c.251G>A (p.Arg84Lys) n.869G>A n.896G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100359G>C | CA391081147 | EXOC3L4 | c.140G>C (p.Arg47Thr) c.32G>C (p.Arg11Thr) c.314G>C (p.Arg105Thr) c.251G>C (p.Arg84Thr) n.869G>C n.896G>C | |
| 14 | g.103100359G= | CA2160140025 | EXOC3L4 | c.140G= (p.Arg47=) c.32G= (p.Arg11=) c.314G= (p.Arg105=) c.251G= (p.Arg84=) n.869G= n.896G= | |
| 14 | g.103100359G>T | CA391081149 | EXOC3L4 | c.140G>T (p.Arg47Met) c.32G>T (p.Arg11Met) c.314G>T (p.Arg105Met) c.251G>T (p.Arg84Met) n.869G>T n.896G>T | |
| 14 | g.103100360G>A | CA488193661 | EXOC3L4 | c.141G>A (p.Arg47=) c.33G>A (p.Arg11=) c.315G>A (p.Arg105=) c.252G>A (p.Arg84=) n.870G>A n.897G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100360G>C | CA391081151 | EXOC3L4 | c.141G>C (p.Arg47Ser) c.33G>C (p.Arg11Ser) c.315G>C (p.Arg105Ser) c.252G>C (p.Arg84Ser) n.870G>C n.897G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100360G= | CA2160140026 | EXOC3L4 | c.141G= (p.Arg47=) c.33G= (p.Arg11=) c.315G= (p.Arg105=) c.252G= (p.Arg84=) n.870G= n.897G= | |
| 14 | g.103100360G>T | CA391081152 | EXOC3L4 | c.141G>T (p.Arg47Ser) c.33G>T (p.Arg11Ser) c.315G>T (p.Arg105Ser) c.252G>T (p.Arg84Ser) n.870G>T n.897G>T | gnomAD v4 |
| 14 | g.103100361C>A | CA391081154 | EXOC3L4 | c.142C>A (p.Leu48Met) c.34C>A (p.Leu12Met) c.316C>A (p.Leu106Met) c.253C>A (p.Leu85Met) n.871C>A n.898C>A | |
| 14 | g.103100361C>G | CA391081156 | EXOC3L4 | c.142C>G (p.Leu48Val) c.34C>G (p.Leu12Val) c.316C>G (p.Leu106Val) c.253C>G (p.Leu85Val) n.871C>G n.898C>G | |
| 14 | g.103100361C>T | CA488193664 | EXOC3L4 | c.142C>T (p.Leu48=) c.34C>T (p.Leu12=) c.316C>T (p.Leu106=) c.253C>T (p.Leu85=) n.871C>T n.898C>T | gnomAD v4 |
| 14 | g.103100362T>A | CA391081162 | EXOC3L4 | c.143T>A (p.Leu48Gln) c.35T>A (p.Leu12Gln) c.317T>A (p.Leu106Gln) c.254T>A (p.Leu85Gln) n.872T>A n.899T>A | |
| 14 | g.103100362T>C | CA391081160 | EXOC3L4 | c.143T>C (p.Leu48Pro) c.35T>C (p.Leu12Pro) c.317T>C (p.Leu106Pro) c.254T>C (p.Leu85Pro) n.872T>C n.899T>C | |
| 14 | g.103100362T>G | CA391081158 | EXOC3L4 | c.143T>G (p.Leu48Arg) c.35T>G (p.Leu12Arg) c.317T>G (p.Leu106Arg) c.254T>G (p.Leu85Arg) n.872T>G n.899T>G | |
| 14 | g.103100363G>A | CA488193667 | EXOC3L4 | c.144G>A (p.Leu48=) c.36G>A (p.Leu12=) c.318G>A (p.Leu106=) c.255G>A (p.Leu85=) n.873G>A n.900G>A | |
| 14 | g.103100363G>C | CA488193669 | EXOC3L4 | c.144G>C (p.Leu48=) c.36G>C (p.Leu12=) c.318G>C (p.Leu106=) c.255G>C (p.Leu85=) n.873G>C n.900G>C | |
| 14 | g.103100363G>T | CA488193671 | EXOC3L4 | c.144G>T (p.Leu48=) c.36G>T (p.Leu12=) c.318G>T (p.Leu106=) c.255G>T (p.Leu85=) n.873G>T n.900G>T | |
| 14 | g.103100364G>A | CA7361809 | EXOC3L4 | c.145G>A (p.Gly49Ser) c.37G>A (p.Gly13Ser) c.319G>A (p.Gly107Ser) c.256G>A (p.Gly86Ser) n.874G>A n.901G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100364G>C | CA391081164 | EXOC3L4 | c.145G>C (p.Gly49Arg) c.37G>C (p.Gly13Arg) c.319G>C (p.Gly107Arg) c.256G>C (p.Gly86Arg) n.874G>C n.901G>C | |
| 14 | g.103100364G= | CA2160140027 | EXOC3L4 | c.145G= (p.Gly49=) c.37G= (p.Gly13=) c.319G= (p.Gly107=) c.256G= (p.Gly86=) n.874G= n.901G= | |
| 14 | g.103100364G>T | CA391081167 | EXOC3L4 | c.145G>T (p.Gly49Cys) c.37G>T (p.Gly13Cys) c.319G>T (p.Gly107Cys) c.256G>T (p.Gly86Cys) n.874G>T n.901G>T | |
| 14 | g.103100365G>A | CA391081169 | EXOC3L4 | c.146G>A (p.Gly49Asp) c.38G>A (p.Gly13Asp) c.320G>A (p.Gly107Asp) c.257G>A (p.Gly86Asp) n.875G>A n.902G>A | |
| 14 | g.103100365G>C | CA391081171 | EXOC3L4 | c.146G>C (p.Gly49Ala) c.38G>C (p.Gly13Ala) c.320G>C (p.Gly107Ala) c.257G>C (p.Gly86Ala) n.875G>C n.902G>C | |
| 14 | g.103100365G>T | CA391081173 | EXOC3L4 | c.146G>T (p.Gly49Val) c.38G>T (p.Gly13Val) c.320G>T (p.Gly107Val) c.257G>T (p.Gly86Val) n.875G>T n.902G>T | |
| 14 | g.103100366C>A | CA488193683 | EXOC3L4 | c.147C>A (p.Gly49=) c.39C>A (p.Gly13=) c.321C>A (p.Gly107=) c.258C>A (p.Gly86=) n.876C>A n.903C>A | |
| 14 | g.103100366C>G | CA488193684 | EXOC3L4 | c.147C>G (p.Gly49=) c.39C>G (p.Gly13=) c.321C>G (p.Gly107=) c.258C>G (p.Gly86=) n.876C>G n.903C>G | |
| 14 | g.103100366C>T | CA488193685 | EXOC3L4 | c.147C>T (p.Gly49=) c.39C>T (p.Gly13=) c.321C>T (p.Gly107=) c.258C>T (p.Gly86=) n.876C>T n.903C>T | |
| 14 | g.103100367C>A | CA391081178 | EXOC3L4 | c.148C>A (p.Leu50Met) c.40C>A (p.Leu14Met) c.322C>A (p.Leu108Met) c.259C>A (p.Leu87Met) n.877C>A n.904C>A | |
| 14 | g.103100367C>G | CA391081176 | EXOC3L4 | c.148C>G (p.Leu50Val) c.40C>G (p.Leu14Val) c.322C>G (p.Leu108Val) c.259C>G (p.Leu87Val) n.877C>G n.904C>G | |
| 14 | g.103100367C>T | CA488193690 | EXOC3L4 | c.148C>T (p.Leu50=) c.40C>T (p.Leu14=) c.322C>T (p.Leu108=) c.259C>T (p.Leu87=) n.877C>T n.904C>T | |
| 14 | g.103100368T>A | CA391081181 | EXOC3L4 | c.149T>A (p.Leu50Gln) c.41T>A (p.Leu14Gln) c.323T>A (p.Leu108Gln) c.260T>A (p.Leu87Gln) n.878T>A n.905T>A | |
| 14 | g.103100368T>C | CA391081183 | EXOC3L4 | c.149T>C (p.Leu50Pro) c.41T>C (p.Leu14Pro) c.323T>C (p.Leu108Pro) c.260T>C (p.Leu87Pro) n.878T>C n.905T>C | |
| 14 | g.103100368T>G | CA391081184 | EXOC3L4 | c.149T>G (p.Leu50Arg) c.41T>G (p.Leu14Arg) c.323T>G (p.Leu108Arg) c.260T>G (p.Leu87Arg) n.878T>G n.905T>G | gnomAD v4 |
| 14 | g.103100369G>A | CA488193694 | EXOC3L4 | c.150G>A (p.Leu50=) c.42G>A (p.Leu14=) c.324G>A (p.Leu108=) c.261G>A (p.Leu87=) n.879G>A n.906G>A | |
| 14 | g.103100369G>C | CA488193701 | EXOC3L4 | c.150G>C (p.Leu50=) c.42G>C (p.Leu14=) c.324G>C (p.Leu108=) c.261G>C (p.Leu87=) n.879G>C n.906G>C | gnomAD v4 |
| 14 | g.103100369G>T | CA488193699 | EXOC3L4 | c.150G>T (p.Leu50=) c.42G>T (p.Leu14=) c.324G>T (p.Leu108=) c.261G>T (p.Leu87=) n.879G>T n.906G>T | |
| 14 | g.103100370G>A | CA391081187 | EXOC3L4 | c.151G>A (p.Gly51Ser) c.43G>A (p.Gly15Ser) c.325G>A (p.Gly109Ser) c.262G>A (p.Gly88Ser) n.880G>A n.907G>A | |
| 14 | g.103100370G>C | CA391081189 | EXOC3L4 | c.151G>C (p.Gly51Arg) c.43G>C (p.Gly15Arg) c.325G>C (p.Gly109Arg) c.262G>C (p.Gly88Arg) n.880G>C n.907G>C | |
| 14 | g.103100370G>T | CA391081191 | EXOC3L4 | c.151G>T (p.Gly51Cys) c.43G>T (p.Gly15Cys) c.325G>T (p.Gly109Cys) c.262G>T (p.Gly88Cys) n.880G>T n.907G>T | |
| 14 | g.103100371G>A | CA391081193 | EXOC3L4 | c.152G>A (p.Gly51Asp) c.44G>A (p.Gly15Asp) c.326G>A (p.Gly109Asp) c.263G>A (p.Gly88Asp) n.881G>A n.908G>A | gnomAD v4 |
| 14 | g.103100371G>C | CA391081197 | EXOC3L4 | c.152G>C (p.Gly51Ala) c.44G>C (p.Gly15Ala) c.326G>C (p.Gly109Ala) c.263G>C (p.Gly88Ala) n.881G>C n.908G>C | |
| 14 | g.103100371G>T | CA391081195 | EXOC3L4 | c.152G>T (p.Gly51Val) c.44G>T (p.Gly15Val) c.326G>T (p.Gly109Val) c.263G>T (p.Gly88Val) n.881G>T n.908G>T | |
| 14 | g.103100372C>A | CA488193704 | EXOC3L4 | c.153C>A (p.Gly51=) c.45C>A (p.Gly15=) c.327C>A (p.Gly109=) c.264C>A (p.Gly88=) n.882C>A n.909C>A | gnomAD v4 |
| 14 | g.103100372C= | CA2160140028 | EXOC3L4 | c.153C= (p.Gly51=) c.45C= (p.Gly15=) c.327C= (p.Gly109=) c.264C= (p.Gly88=) n.882C= n.909C= | |
| 14 | g.103100372C>G | CA488193707 | EXOC3L4 | c.153C>G (p.Gly51=) c.45C>G (p.Gly15=) c.327C>G (p.Gly109=) c.264C>G (p.Gly88=) n.882C>G n.909C>G | |
| 14 | g.103100372C>T | CA488193710 | EXOC3L4 | c.153C>T (p.Gly51=) c.45C>T (p.Gly15=) c.327C>T (p.Gly109=) c.264C>T (p.Gly88=) n.882C>T n.909C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100373T>A | CA391081199 | EXOC3L4 | c.154T>A (p.Ser52Thr) c.46T>A (p.Ser16Thr) c.328T>A (p.Ser110Thr) c.265T>A (p.Ser89Thr) n.883T>A n.910T>A | gnomAD v4 |
| 14 | g.103100373T>C | CA391081201 | EXOC3L4 | c.154T>C (p.Ser52Pro) c.46T>C (p.Ser16Pro) c.328T>C (p.Ser110Pro) c.265T>C (p.Ser89Pro) n.883T>C n.910T>C | |
| 14 | g.103100373T>G | CA7361810 | EXOC3L4 | c.154T>G (p.Ser52Ala) c.46T>G (p.Ser16Ala) c.328T>G (p.Ser110Ala) c.265T>G (p.Ser89Ala) n.883T>G n.910T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100373T= | CA2160140029 | EXOC3L4 | c.154T= (p.Ser52=) c.46T= (p.Ser16=) c.328T= (p.Ser110=) c.265T= (p.Ser89=) n.883T= n.910T= | |
| 14 | g.103100374C>A | CA391081204 | EXOC3L4 | c.155C>A (p.Ser52Tyr) c.47C>A (p.Ser16Tyr) c.329C>A (p.Ser110Tyr) c.266C>A (p.Ser89Tyr) n.884C>A n.911C>A | |
| 14 | g.103100374C>G | CA391081207 | EXOC3L4 | c.155C>G (p.Ser52Cys) c.47C>G (p.Ser16Cys) c.329C>G (p.Ser110Cys) c.266C>G (p.Ser89Cys) n.884C>G n.911C>G | |
| 14 | g.103100374C>T | CA391081209 | EXOC3L4 | c.155C>T (p.Ser52Phe) c.47C>T (p.Ser16Phe) c.329C>T (p.Ser110Phe) c.266C>T (p.Ser89Phe) n.884C>T n.911C>T | |
| 14 | g.103100375C>A | CA488193715 | EXOC3L4 | c.156C>A (p.Ser52=) c.48C>A (p.Ser16=) c.330C>A (p.Ser110=) c.267C>A (p.Ser89=) n.885C>A n.912C>A | |
| 14 | g.103100375C= | CA2160140030 | EXOC3L4 | c.156C= (p.Ser52=) c.48C= (p.Ser16=) c.330C= (p.Ser110=) c.267C= (p.Ser89=) n.885C= n.912C= | |
| 14 | g.103100375C>G | CA488193716 | EXOC3L4 | c.156C>G (p.Ser52=) c.48C>G (p.Ser16=) c.330C>G (p.Ser110=) c.267C>G (p.Ser89=) n.885C>G n.912C>G | dbSNP |
| 14 | g.103100375C>T | CA488193718 | EXOC3L4 | c.156C>T (p.Ser52=) c.48C>T (p.Ser16=) c.330C>T (p.Ser110=) c.267C>T (p.Ser89=) n.885C>T n.912C>T | |
| 14 | g.103100376C>A | CA391081211 | EXOC3L4 | c.157C>A (p.Leu53Met) c.49C>A (p.Leu17Met) c.331C>A (p.Leu111Met) c.268C>A (p.Leu90Met) n.886C>A n.913C>A | |
| 14 | g.103100376C>G | CA391081213 | EXOC3L4 | c.157C>G (p.Leu53Val) c.49C>G (p.Leu17Val) c.331C>G (p.Leu111Val) c.268C>G (p.Leu90Val) n.886C>G n.913C>G | |
| 14 | g.103100376C>T | CA488193721 | EXOC3L4 | c.157C>T (p.Leu53=) c.49C>T (p.Leu17=) c.331C>T (p.Leu111=) c.268C>T (p.Leu90=) n.886C>T n.913C>T | COSMIC |
| 14 | g.103100377T>A | CA391081217 | EXOC3L4 | c.158T>A (p.Leu53Gln) c.50T>A (p.Leu17Gln) c.332T>A (p.Leu111Gln) c.269T>A (p.Leu90Gln) n.887T>A n.914T>A | |
| 14 | g.103100377T>C | CA391081219 | EXOC3L4 | c.158T>C (p.Leu53Pro) c.50T>C (p.Leu17Pro) c.332T>C (p.Leu111Pro) c.269T>C (p.Leu90Pro) n.887T>C n.914T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100377T>G | CA391081221 | EXOC3L4 | c.158T>G (p.Leu53Arg) c.50T>G (p.Leu17Arg) c.332T>G (p.Leu111Arg) c.269T>G (p.Leu90Arg) n.887T>G n.914T>G | |
| 14 | g.103100377T= | CA2160140031 | EXOC3L4 | c.158T= (p.Leu53=) c.50T= (p.Leu17=) c.332T= (p.Leu111=) c.269T= (p.Leu90=) n.887T= n.914T= | |
| 14 | g.103100378G>A | CA488193725 | EXOC3L4 | c.159G>A (p.Leu53=) c.51G>A (p.Leu17=) c.333G>A (p.Leu111=) c.270G>A (p.Leu90=) n.888G>A n.915G>A | COSMIC |
| 14 | g.103100378G>C | CA267170799 | EXOC3L4 | c.159G>C (p.Leu53=) c.51G>C (p.Leu17=) c.333G>C (p.Leu111=) c.270G>C (p.Leu90=) n.888G>C n.915G>C | dbSNP |
| 14 | g.103100378G= | CA2160140032 | EXOC3L4 | c.159G= (p.Leu53=) c.51G= (p.Leu17=) c.333G= (p.Leu111=) c.270G= (p.Leu90=) n.888G= n.915G= | |
| 14 | g.103100378G>T | CA488193726 | EXOC3L4 | c.159G>T (p.Leu53=) c.51G>T (p.Leu17=) c.333G>T (p.Leu111=) c.270G>T (p.Leu90=) n.888G>T n.915G>T | |
| 14 | g.103100379A>C | CA488193727 | EXOC3L4 | c.160A>C (p.Arg54=) c.52A>C (p.Arg18=) c.334A>C (p.Arg112=) c.271A>C (p.Arg91=) n.889A>C n.916A>C | |
| 14 | g.103100379A>G | CA391081223 | EXOC3L4 | c.160A>G (p.Arg54Gly) c.52A>G (p.Arg18Gly) c.334A>G (p.Arg112Gly) c.271A>G (p.Arg91Gly) n.889A>G n.916A>G | |
| 14 | g.103100379A>T | CA391081225 | EXOC3L4 | c.160A>T (p.Arg54Trp) c.52A>T (p.Arg18Trp) c.334A>T (p.Arg112Trp) c.271A>T (p.Arg91Trp) n.889A>T n.916A>T | |
| 14 | g.103100380G>A | CA391081227 | EXOC3L4 | c.161G>A (p.Arg54Lys) c.53G>A (p.Arg18Lys) c.335G>A (p.Arg112Lys) c.272G>A (p.Arg91Lys) n.890G>A n.917G>A | dbSNP gnomAD v4 |
| 14 | g.103100380G>C | CA391081230 | EXOC3L4 | c.161G>C (p.Arg54Thr) c.53G>C (p.Arg18Thr) c.335G>C (p.Arg112Thr) c.272G>C (p.Arg91Thr) n.890G>C n.917G>C | |
| 14 | g.103100380G= | CA2160140033 | EXOC3L4 | c.161G= (p.Arg54=) c.53G= (p.Arg18=) c.335G= (p.Arg112=) c.272G= (p.Arg91=) n.890G= n.917G= | |
| 14 | g.103100380G>T | CA391081229 | EXOC3L4 | c.161G>T (p.Arg54Met) c.53G>T (p.Arg18Met) c.335G>T (p.Arg112Met) c.272G>T (p.Arg91Met) n.890G>T n.917G>T | |
| 14 | g.103100381G>A | CA7361811 | EXOC3L4 | c.162G>A (p.Arg54=) c.54G>A (p.Arg18=) c.336G>A (p.Arg112=) c.273G>A (p.Arg91=) n.891G>A n.918G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100381G>C | CA391081235 | EXOC3L4 | c.162G>C (p.Arg54Ser) c.54G>C (p.Arg18Ser) c.336G>C (p.Arg112Ser) c.273G>C (p.Arg91Ser) n.891G>C n.918G>C | |
| 14 | g.103100381G= | CA2160140034 | EXOC3L4 | c.162G= (p.Arg54=) c.54G= (p.Arg18=) c.336G= (p.Arg112=) c.273G= (p.Arg91=) n.891G= n.918G= | |
| 14 | g.103100381G>T | CA391081233 | EXOC3L4 | c.162G>T (p.Arg54Ser) c.54G>T (p.Arg18Ser) c.336G>T (p.Arg112Ser) c.273G>T (p.Arg91Ser) n.891G>T n.918G>T | |
| 14 | g.103100382C>A | CA391081237 | EXOC3L4 | c.163C>A (p.Gln55Lys) c.55C>A (p.Gln19Lys) c.337C>A (p.Gln113Lys) c.274C>A (p.Gln92Lys) n.892C>A n.919C>A | |
| 14 | g.103100382C>G | CA391081239 | EXOC3L4 | c.163C>G (p.Gln55Glu) c.55C>G (p.Gln19Glu) c.337C>G (p.Gln113Glu) c.274C>G (p.Gln92Glu) n.892C>G n.919C>G | |
| 14 | g.103100382C>T | CA391081241 | EXOC3L4 | c.163C>T (p.Gln55Ter) c.55C>T (p.Gln19Ter) c.337C>T (p.Gln113Ter) c.274C>T (p.Gln92Ter) n.892C>T n.919C>T | |
| 14 | g.103100383A= | CA2160140035 | EXOC3L4 | c.164A= (p.Gln55=) c.56A= (p.Gln19=) c.338A= (p.Gln113=) c.275A= (p.Gln92=) n.893A= n.920A= | |
| 14 | g.103100383A>C | CA391081243 | EXOC3L4 | c.164A>C (p.Gln55Pro) c.56A>C (p.Gln19Pro) c.338A>C (p.Gln113Pro) c.275A>C (p.Gln92Pro) n.893A>C n.920A>C | |
| 14 | g.103100383A>G | CA391081245 | EXOC3L4 | c.164A>G (p.Gln55Arg) c.56A>G (p.Gln19Arg) c.338A>G (p.Gln113Arg) c.275A>G (p.Gln92Arg) n.893A>G n.920A>G | dbSNP gnomAD v4 |
| 14 | g.103100383A>T | CA391081247 | EXOC3L4 | c.164A>T (p.Gln55Leu) c.56A>T (p.Gln19Leu) c.338A>T (p.Gln113Leu) c.275A>T (p.Gln92Leu) n.893A>T n.920A>T |