Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24799700A= | CA1445077696 | SOD3 | c.179A= (p.His60=) n.369A= | |
4 | g.24799700A>C | CA356638528 | SOD3 | c.179A>C (p.His60Pro) n.369A>C | |
4 | g.24799700A>G | CA356638530 | SOD3 | c.179A>G (p.His60Arg) n.369A>G | dbSNP |
4 | g.24799700A>T | CA356638531 | SOD3 | c.179A>T (p.His60Leu) n.369A>T | |
4 | g.24799701C>A | CA94297219 | SOD3 | c.180C>A (p.His60Gln) n.370C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799701C= | CA1445077700 | SOD3 | c.180C= (p.His60=) n.370C= | |
4 | g.24799701C>G | CA356638534 | SOD3 | c.180C>G (p.His60Gln) n.370C>G | |
4 | g.24799701C>T | CA2876231 | SOD3 | c.180C>T (p.His60=) n.370C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799702del | CA2670208888 | SOD3 | c.181del (p.Ala61ProfsTer18) n.371del | gnomAD v4 |
4 | g.24799702G>A | CA356638539 | SOD3 | c.181G>A (p.Ala61Thr) n.371G>A | gnomAD v4 |
4 | g.24799702G>C | CA356638542 | SOD3 | c.181G>C (p.Ala61Pro) n.371G>C | |
4 | g.24799702G>T | CA356638545 | SOD3 | c.181G>T (p.Ala61Ser) n.371G>T | gnomAD v4 |
4 | g.24799703C>A | CA356638551 | SOD3 | c.182C>A (p.Ala61Asp) n.372C>A | gnomAD v4 COSMIC |
4 | g.24799703C>G | CA356638547 | SOD3 | c.182C>G (p.Ala61Gly) n.372C>G | |
4 | g.24799703C>T | CA356638549 | SOD3 | c.182C>T (p.Ala61Val) n.372C>T | |
4 | g.24799704C>A | CA438901711 | SOD3 | c.183C>A (p.Ala61=) n.373C>A | gnomAD v4 |
4 | g.24799704C>G | CA438901713 | SOD3 | c.183C>G (p.Ala61=) n.373C>G | gnomAD v4 |
4 | g.24799704C>T | CA438901715 | SOD3 | c.183C>T (p.Ala61=) n.373C>T | gnomAD v4 |
4 | g.24799705G>A | CA94297220 | SOD3 | c.184G>A (p.Ala62Thr) n.374G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799705G>C | CA356638553 | SOD3 | c.184G>C (p.Ala62Pro) n.374G>C | |
4 | g.24799705G= | CA1445077704 | SOD3 | c.184G= (p.Ala62=) n.374G= | |
4 | g.24799705G>T | CA356638556 | SOD3 | c.184G>T (p.Ala62Ser) n.374G>T | gnomAD v4 |
4 | g.24799706C>A | CA356638558 | SOD3 | c.185C>A (p.Ala62Asp) n.375C>A | dbSNP gnomAD v2 |
4 | g.24799706C= | CA1445077708 | SOD3 | c.185C= (p.Ala62=) n.375C= | |
4 | g.24799706C>G | CA356638559 | SOD3 | c.185C>G (p.Ala62Gly) n.375C>G | |
4 | g.24799706C>T | CA356638562 | SOD3 | c.185C>T (p.Ala62Val) n.375C>T | gnomAD v4 |
4 | g.24799707C>A | CA438901721 | SOD3 | c.186C>A (p.Ala62=) n.376C>A | gnomAD v4 |
4 | g.24799707C>G | CA438901719 | SOD3 | c.186C>G (p.Ala62=) n.376C>G | |
4 | g.24799707C>T | CA438901720 | SOD3 | c.186C>T (p.Ala62=) n.376C>T | gnomAD v4 |
4 | g.24799708T>A | CA356638563 | SOD3 | c.187T>A (p.Cys63Ser) n.377T>A | |
4 | g.24799708T>C | CA356638566 | SOD3 | c.187T>C (p.Cys63Arg) n.377T>C | gnomAD v4 |
4 | g.24799708T>G | CA356638568 | SOD3 | c.187T>G (p.Cys63Gly) n.377T>G | |
4 | g.24799709G>A | CA356638570 | SOD3 | c.188G>A (p.Cys63Tyr) n.378G>A | gnomAD v4 |
4 | g.24799709G>C | CA356638572 | SOD3 | c.188G>C (p.Cys63Ser) n.378G>C | |
4 | g.24799709G>T | CA356638573 | SOD3 | c.188G>T (p.Cys63Phe) n.378G>T | gnomAD v4 |
4 | g.24799710C>A | CA356638579 | SOD3 | c.189C>A (p.Cys63Ter) n.379C>A | gnomAD v4 |
4 | g.24799710C>G | CA356638577 | SOD3 | c.189C>G (p.Cys63Trp) n.379C>G | |
4 | g.24799710C>T | CA438901726 | SOD3 | c.189C>T (p.Cys63=) n.379C>T | gnomAD v4 |
4 | g.24799711del | CA645517239 | SOD3 | c.190del (p.Gln64ArgfsTer15) n.380del | COSMIC |
4 | g.24799711C>A | CA356638581 | SOD3 | c.190C>A (p.Gln64Lys) n.380C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799711C= | CA1445077717 | SOD3 | c.190C= (p.Gln64=) n.380C= | |
4 | g.24799711C>G | CA356638583 | SOD3 | c.190C>G (p.Gln64Glu) n.380C>G | |
4 | g.24799711C>T | CA356638585 | SOD3 | c.190C>T (p.Gln64Ter) n.380C>T | |
4 | g.24799712A>C | CA356638587 | SOD3 | c.191A>C (p.Gln64Pro) n.381A>C | |
4 | g.24799712A>G | CA356638592 | SOD3 | c.191A>G (p.Gln64Arg) n.381A>G | gnomAD v4 |
4 | g.24799712A>T | CA356638593 | SOD3 | c.191A>T (p.Gln64Leu) n.381A>T | |
4 | g.24799713G>A | CA438901729 | SOD3 | c.192G>A (p.Gln64=) n.382G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799713G>C | CA356638596 | SOD3 | c.192G>C (p.Gln64His) n.382G>C | |
4 | g.24799713G= | CA1445077720 | SOD3 | c.192G= (p.Gln64=) n.382G= | |
4 | g.24799713G>T | CA356638597 | SOD3 | c.192G>T (p.Gln64His) n.382G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799714G>A | CA2876232 | SOD3 | c.193G>A (p.Val65Met) n.383G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799714G>C | CA94297221 | SOD3 | c.193G>C (p.Val65Leu) n.383G>C | dbSNP |
4 | g.24799714G= | CA1445077725 | SOD3 | c.193G= (p.Val65=) n.383G= | |
4 | g.24799714G>T | CA356638598 | SOD3 | c.193G>T (p.Val65Leu) n.383G>T | gnomAD v4 |
4 | g.24799715T>A | CA356638599 | SOD3 | c.194T>A (p.Val65Glu) n.384T>A | |
4 | g.24799715T>C | CA356638600 | SOD3 | c.194T>C (p.Val65Ala) n.384T>C | |
4 | g.24799715T>G | CA356638602 | SOD3 | c.194T>G (p.Val65Gly) n.384T>G | |
4 | g.24799716G>A | CA2876233 | SOD3 | c.195G>A (p.Val65=) n.385G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799716G>C | CA438901731 | SOD3 | c.195G>C (p.Val65=) n.385G>C | |
4 | g.24799716G= | CA1445077728 | SOD3 | c.195G= (p.Val65=) n.385G= | |
4 | g.24799716G>T | CA438901733 | SOD3 | c.195G>T (p.Val65=) n.385G>T | gnomAD v4 |
4 | g.24799717C>A | CA356638604 | SOD3 | c.196C>A (p.Gln66Lys) n.386C>A | |
4 | g.24799717C>G | CA356638606 | SOD3 | c.196C>G (p.Gln66Glu) n.386C>G | |
4 | g.24799717C>T | CA356638605 | SOD3 | c.196C>T (p.Gln66Ter) n.386C>T | gnomAD v4 |
4 | g.24799718A>C | CA356638609 | SOD3 | c.197A>C (p.Gln66Pro) n.387A>C | |
4 | g.24799718A>G | CA356638611 | SOD3 | c.197A>G (p.Gln66Arg) n.387A>G | |
4 | g.24799718A>T | CA356638624 | SOD3 | c.197A>T (p.Gln66Leu) n.387A>T | gnomAD v4 |
4 | g.24799719G>A | CA2876234 | SOD3 | c.198G>A (p.Gln66=) n.388G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799719G>C | CA356638628 | SOD3 | c.198G>C (p.Gln66His) n.388G>C | |
4 | g.24799719G= | CA1445032507 | SOD3 | c.198G= (p.Gln66=) n.388G= | |
4 | g.24799719G>T | CA356638631 | SOD3 | c.198G>T (p.Gln66His) n.388G>T | gnomAD v4 |
4 | g.24799720C>A | CA356638634 | SOD3 | c.199C>A (p.Pro67Thr) n.389C>A | |
4 | g.24799720C>G | CA356638636 | SOD3 | c.199C>G (p.Pro67Ala) n.389C>G | |
4 | g.24799720C>T | CA356638639 | SOD3 | c.199C>T (p.Pro67Ser) n.389C>T | gnomAD v4 |
4 | g.24799721C>A | CA356638646 | SOD3 | c.200C>A (p.Pro67Gln) n.390C>A | |
4 | g.24799721C= | CA1445032512 | SOD3 | c.200C= (p.Pro67=) n.390C= | |
4 | g.24799721C>G | CA2876235 | SOD3 | c.200C>G (p.Pro67Arg) n.390C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.24799721C>T | CA356638653 | SOD3 | c.200C>T (p.Pro67Leu) n.390C>T | gnomAD v4 |
4 | g.24799722G>A | CA438901739 | SOD3 | c.201G>A (p.Pro67=) n.391G>A | gnomAD v4 |
4 | g.24799722G>C | CA438901741 | SOD3 | c.201G>C (p.Pro67=) n.391G>C | |
4 | g.24799722G>T | CA438901743 | SOD3 | c.201G>T (p.Pro67=) n.391G>T | gnomAD v4 |
4 | g.24799723T>A | CA356638654 | SOD3 | c.202T>A (p.Ser68Thr) n.392T>A | |
4 | g.24799723T>C | CA2876236 | SOD3 | c.202T>C (p.Ser68Pro) n.392T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799723T>G | CA356638655 | SOD3 | c.202T>G (p.Ser68Ala) n.392T>G | |
4 | g.24799723T= | CA1445032516 | SOD3 | c.202T= (p.Ser68=) n.392T= | |
4 | g.24799724C>A | CA356638658 | SOD3 | c.203C>A (p.Ser68Ter) n.393C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799724C= | CA1445032520 | SOD3 | c.203C= (p.Ser68=) n.393C= | |
4 | g.24799724C>G | CA356638663 | SOD3 | c.203C>G (p.Ser68Trp) n.393C>G | |
4 | g.24799724C>T | CA356638666 | SOD3 | c.203C>T (p.Ser68Leu) n.393C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799725G>A | CA438901748 | SOD3 | c.204G>A (p.Ser68=) n.394G>A | gnomAD v4 COSMIC |
4 | g.24799725G>C | CA94297222 | SOD3 | c.204G>C (p.Ser68=) n.394G>C | dbSNP gnomAD v4 |
4 | g.24799725G= | CA1445032524 | SOD3 | c.204G= (p.Ser68=) n.394G= | |
4 | g.24799725G>T | CA438901749 | SOD3 | c.204G>T (p.Ser68=) n.394G>T | gnomAD v4 |
4 | g.24799726G>A | CA356638675 | SOD3 | c.205G>A (p.Ala69Thr) n.395G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799726G>C | CA356638677 | SOD3 | c.205G>C (p.Ala69Pro) n.395G>C | gnomAD v4 |
4 | g.24799726G= | CA1445032528 | SOD3 | c.205G= (p.Ala69=) n.395G= | |
4 | g.24799726G>T | CA356638679 | SOD3 | c.205G>T (p.Ala69Ser) n.395G>T | gnomAD v4 |
4 | g.24799727C>A | CA356638683 | SOD3 | c.206C>A (p.Ala69Asp) n.396C>A | gnomAD v4 |
4 | g.24799727C= | CA1445032532 | SOD3 | c.206C= (p.Ala69=) n.396C= | |
4 | g.24799727C>G | CA356638685 | SOD3 | c.206C>G (p.Ala69Gly) n.396C>G | |
4 | g.24799727C>T | CA356638688 | SOD3 | c.206C>T (p.Ala69Val) n.396C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799728C>A | CA438901758 | SOD3 | c.207C>A (p.Ala69=) n.397C>A | gnomAD v4 |
4 | g.24799728C>G | CA438901755 | SOD3 | c.207C>G (p.Ala69=) n.397C>G | |
4 | g.24799728C>T | CA438901753 | SOD3 | c.207C>T (p.Ala69=) n.397C>T | gnomAD v4 |
4 | g.24799729A>C | CA356638689 | SOD3 | c.208A>C (p.Thr70Pro) n.398A>C | |
4 | g.24799729A>G | CA356638690 | SOD3 | c.208A>G (p.Thr70Ala) n.398A>G | gnomAD v4 |
4 | g.24799729A>T | CA356638691 | SOD3 | c.208A>T (p.Thr70Ser) n.398A>T | |
4 | g.24799730C>A | CA356638696 | SOD3 | c.209C>A (p.Thr70Lys) n.399C>A | |
4 | g.24799730C= | CA1445032534 | SOD3 | c.209C= (p.Thr70=) n.399C= | |
4 | g.24799730C>G | CA356638695 | SOD3 | c.209C>G (p.Thr70Arg) n.399C>G | |
4 | g.24799730C>T | CA356638694 | SOD3 | c.209C>T (p.Thr70Met) n.399C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799731G>A | CA438901764 | SOD3 | c.210G>A (p.Thr70=) n.400G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799731G>C | CA438901765 | SOD3 | c.210G>C (p.Thr70=) n.400G>C | gnomAD v4 |
4 | g.24799731G= | CA1445032535 | SOD3 | c.210G= (p.Thr70=) n.400G= | |
4 | g.24799731G>T | CA438901766 | SOD3 | c.210G>T (p.Thr70=) n.400G>T | gnomAD v4 |
4 | g.24799732C>A | CA356638700 | SOD3 | c.211C>A (p.Leu71Met) n.401C>A | gnomAD v4 |
4 | g.24799732C= | CA1445032539 | SOD3 | c.211C= (p.Leu71=) n.401C= | |
4 | g.24799732C>G | CA356638702 | SOD3 | c.211C>G (p.Leu71Val) n.401C>G | |
4 | g.24799732C>T | CA2876237 | SOD3 | c.211C>T (p.Leu71=) n.401C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799733T>A | CA356638710 | SOD3 | c.212T>A (p.Leu71Gln) n.402T>A | |
4 | g.24799733T>C | CA356638713 | SOD3 | c.212T>C (p.Leu71Pro) n.402T>C | |
4 | g.24799733T>G | CA356638716 | SOD3 | c.212T>G (p.Leu71Arg) n.402T>G | gnomAD v4 |
4 | g.24799734G>A | CA438901771 | SOD3 | c.213G>A (p.Leu71=) n.403G>A | |
4 | g.24799734G>C | CA438901772 | SOD3 | c.213G>C (p.Leu71=) n.403G>C | |
4 | g.24799734G>T | CA438901773 | SOD3 | c.213G>T (p.Leu71=) n.403G>T | gnomAD v4 |
4 | g.24799735G>A | CA356638720 | SOD3 | c.214G>A (p.Asp72Asn) n.404G>A | gnomAD v4 |
4 | g.24799735G>C | CA94297223 | SOD3 | c.214G>C (p.Asp72His) n.404G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799735G= | CA1445032541 | SOD3 | c.214G= (p.Asp72=) n.404G= | |
4 | g.24799735G>T | CA356638725 | SOD3 | c.214G>T (p.Asp72Tyr) n.404G>T | gnomAD v4 |
4 | g.24799736A= | CA1445032544 | SOD3 | c.215A= (p.Asp72=) n.405A= | |
4 | g.24799736A>C | CA356638730 | SOD3 | c.215A>C (p.Asp72Ala) n.405A>C | |
4 | g.24799736A>G | CA356638731 | SOD3 | c.215A>G (p.Asp72Gly) n.405A>G | dbSNP gnomAD v4 |
4 | g.24799736A>T | CA356638734 | SOD3 | c.215A>T (p.Asp72Val) n.405A>T | |
4 | g.24799737C>A | CA356638739 | SOD3 | c.216C>A (p.Asp72Glu) n.406C>A | |
4 | g.24799737C>G | CA356638742 | SOD3 | c.216C>G (p.Asp72Glu) n.406C>G | |
4 | g.24799737C>T | CA438901777 | SOD3 | c.216C>T (p.Asp72=) n.406C>T | gnomAD v4 |
4 | g.24799738G>A | CA356638749 | SOD3 | c.217G>A (p.Ala73Thr) n.407G>A | |
4 | g.24799738G>C | CA356638752 | SOD3 | c.217G>C (p.Ala73Pro) n.407G>C | |
4 | g.24799738G>T | CA356638746 | SOD3 | c.217G>T (p.Ala73Ser) n.407G>T | gnomAD v4 |
4 | g.24799739C>A | CA356638756 | SOD3 | c.218C>A (p.Ala73Asp) n.408C>A | gnomAD v4 |
4 | g.24799739C= | CA1445032546 | SOD3 | c.218C= (p.Ala73=) n.408C= | |
4 | g.24799739C>G | CA356638760 | SOD3 | c.218C>G (p.Ala73Gly) n.408C>G | |
4 | g.24799739C>T | CA356638763 | SOD3 | c.218C>T (p.Ala73Val) n.408C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799740C>A | CA438901778 | SOD3 | c.219C>A (p.Ala73=) n.409C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799740C= | CA1445032550 | SOD3 | c.219C= (p.Ala73=) n.409C= | |
4 | g.24799740C>G | CA438901779 | SOD3 | c.219C>G (p.Ala73=) n.409C>G | |
4 | g.24799740C>T | CA2876238 | SOD3 | c.219C>T (p.Ala73=) n.409C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799741G>A | CA356638766 | SOD3 | c.220G>A (p.Ala74Thr) n.410G>A | gnomAD v4 |
4 | g.24799741G>C | CA356638769 | SOD3 | c.220G>C (p.Ala74Pro) n.410G>C | gnomAD v4 |
4 | g.24799741G= | CA1445032551 | SOD3 | c.220G= (p.Ala74=) n.410G= | |
4 | g.24799741G>T | CA356638771 | SOD3 | c.220G>T (p.Ala74Ser) n.410G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799742C>A | CA356638780 | SOD3 | c.221C>A (p.Ala74Glu) n.411C>A | |
4 | g.24799742C= | CA1445032554 | SOD3 | c.221C= (p.Ala74=) n.411C= | |
4 | g.24799742C>G | CA356638782 | SOD3 | c.221C>G (p.Ala74Gly) n.411C>G | dbSNP gnomAD v2 |
4 | g.24799742C>T | CA356638784 | SOD3 | c.221C>T (p.Ala74Val) n.411C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799743G>A | CA438901784 | SOD3 | c.222G>A (p.Ala74=) n.412G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799743G>C | CA438901786 | SOD3 | c.222G>C (p.Ala74=) n.412G>C | |
4 | g.24799743G= | CA1445032556 | SOD3 | c.222G= (p.Ala74=) n.412G= | |
4 | g.24799743G>T | CA438901788 | SOD3 | c.222G>T (p.Ala74=) n.412G>T | gnomAD v4 |
4 | g.24799744C>A | CA356638785 | SOD3 | c.223C>A (p.Gln75Lys) n.413C>A | gnomAD v4 |
4 | g.24799744C>G | CA356638787 | SOD3 | c.223C>G (p.Gln75Glu) n.413C>G | |
4 | g.24799744C>T | CA356638789 | SOD3 | c.223C>T (p.Gln75Ter) n.413C>T | |
4 | g.24799745A= | CA1445032558 | SOD3 | c.224A= (p.Gln75=) n.414A= | |
4 | g.24799745A>C | CA356638795 | SOD3 | c.224A>C (p.Gln75Pro) n.414A>C | |
4 | g.24799745A>G | CA356638799 | SOD3 | c.224A>G (p.Gln75Arg) n.414A>G | dbSNP |
4 | g.24799745A>T | CA356638797 | SOD3 | c.224A>T (p.Gln75Leu) n.414A>T | |
4 | g.24799746G>A | CA438901792 | SOD3 | c.225G>A (p.Gln75=) n.415G>A | |
4 | g.24799746G>C | CA2876239 | SOD3 | c.225G>C (p.Gln75His) n.415G>C | dbSNP ExAC gnomAD v2 |
4 | g.24799746G= | CA1445032560 | SOD3 | c.225G= (p.Gln75=) n.415G= | |
4 | g.24799746G>T | CA356638803 | SOD3 | c.225G>T (p.Gln75His) n.415G>T | gnomAD v4 |
4 | g.24799747C>A | CA356638805 | SOD3 | c.226C>A (p.Pro76Thr) n.416C>A | gnomAD v4 |
4 | g.24799747C>G | CA356638807 | SOD3 | c.226C>G (p.Pro76Ala) n.416C>G | |
4 | g.24799747C>T | CA356638809 | SOD3 | c.226C>T (p.Pro76Ser) n.416C>T | gnomAD v4 |
4 | g.24799750del | CA2670208889 | SOD3 | c.229del (p.Arg77GlyfsTer2) n.419del | gnomAD v4 |
4 | g.24799748C>A | CA356638812 | SOD3 | c.227C>A (p.Pro76His) n.417C>A | |
4 | g.24799748C>G | CA356638815 | SOD3 | c.227C>G (p.Pro76Arg) n.417C>G | |
4 | g.24799748C>T | CA356638816 | SOD3 | c.227C>T (p.Pro76Leu) n.417C>T | gnomAD v4 |
4 | g.24799748_24799749delinsTT | CA645517240 | SOD3 | c.227_228delinsTT (p.Pro76Leu) n.417_418delinsTT | COSMIC |
4 | g.24799749C>A | CA438901799 | SOD3 | c.228C>A (p.Pro76=) n.418C>A | |
4 | g.24799749C= | CA1445032565 | SOD3 | c.228C= (p.Pro76=) n.418C= | |
4 | g.24799749C>G | CA438901798 | SOD3 | c.228C>G (p.Pro76=) n.418C>G | |
4 | g.24799749C>T | CA2876240 | SOD3 | c.228C>T (p.Pro76=) n.418C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799750C>A | CA438901804 | SOD3 | c.229C>A (p.Arg77=) n.419C>A | gnomAD v4 |
4 | g.24799750C= | CA1445032567 | SOD3 | c.229C= (p.Arg77=) n.419C= | |
4 | g.24799750C>G | CA356638821 | SOD3 | c.229C>G (p.Arg77Gly) n.419C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799750C>T | CA356638823 | SOD3 | c.229C>T (p.Arg77Trp) n.419C>T | gnomAD v4 |
4 | g.24799751G>A | CA94297224 | SOD3 | c.230G>A (p.Arg77Gln) n.420G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799751G>C | CA356638830 | SOD3 | c.230G>C (p.Arg77Pro) n.420G>C | gnomAD v4 |
4 | g.24799751G= | CA1445032570 | SOD3 | c.230G= (p.Arg77=) n.420G= | |
4 | g.24799751G>T | CA356638826 | SOD3 | c.230G>T (p.Arg77Leu) n.420G>T | gnomAD v4 |
4 | g.24799752G>A | CA438901807 | SOD3 | c.231G>A (p.Arg77=) n.421G>A | gnomAD v4 |
4 | g.24799752G>C | CA438901809 | SOD3 | c.231G>C (p.Arg77=) n.421G>C | gnomAD v4 |
4 | g.24799752G>T | CA438901811 | SOD3 | c.231G>T (p.Arg77=) n.421G>T | |
4 | g.24799753G>A | CA356638831 | SOD3 | c.232G>A (p.Val78Met) n.422G>A | gnomAD v4 |
4 | g.24799753G>C | CA356638836 | SOD3 | c.232G>C (p.Val78Leu) n.422G>C | |
4 | g.24799753G>T | CA356638833 | SOD3 | c.232G>T (p.Val78Leu) n.422G>T | |
4 | g.24799754T>A | CA356638838 | SOD3 | c.233T>A (p.Val78Glu) n.423T>A | |
4 | g.24799754T>C | CA356638841 | SOD3 | c.233T>C (p.Val78Ala) n.423T>C | |
4 | g.24799754T>G | CA356638842 | SOD3 | c.233T>G (p.Val78Gly) n.423T>G | dbSNP |
4 | g.24799754T= | CA1445032572 | SOD3 | c.233T= (p.Val78=) n.423T= | |
4 | g.24799755G>A | CA438901817 | SOD3 | c.234G>A (p.Val78=) n.424G>A | |
4 | g.24799755G>C | CA438901819 | SOD3 | c.234G>C (p.Val78=) n.424G>C | gnomAD v4 |
4 | g.24799755G= | CA1445032574 | SOD3 | c.234G= (p.Val78=) n.424G= | |
4 | g.24799755G>T | CA438901818 | SOD3 | c.234G>T (p.Val78=) n.424G>T | dbSNP |
4 | g.24799756A>C | CA356638843 | SOD3 | c.235A>C (p.Thr79Pro) n.425A>C | |
4 | g.24799756A>G | CA356638844 | SOD3 | c.235A>G (p.Thr79Ala) n.425A>G | gnomAD v4 |
4 | g.24799756A>T | CA356638845 | SOD3 | c.235A>T (p.Thr79Ser) n.425A>T | |
4 | g.24799757C>A | CA356638851 | SOD3 | c.236C>A (p.Thr79Asn) n.426C>A | |
4 | g.24799757C= | CA1445032576 | SOD3 | c.236C= (p.Thr79=) n.426C= | |
4 | g.24799757C>G | CA356638849 | SOD3 | c.236C>G (p.Thr79Ser) n.426C>G | |
4 | g.24799757C>T | CA2876241 | SOD3 | c.236C>T (p.Thr79Ile) n.426C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799758C>A | CA438901825 | SOD3 | c.237C>A (p.Thr79=) n.427C>A | |
4 | g.24799758C= | CA1445032580 | SOD3 | c.237C= (p.Thr79=) n.427C= | |
4 | g.24799758C>G | CA438901824 | SOD3 | c.237C>G (p.Thr79=) n.427C>G | |
4 | g.24799758C>T | CA438901822 | SOD3 | c.237C>T (p.Thr79=) n.427C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799759G>A | CA356638853 | SOD3 | c.238G>A (p.Gly80Ser) n.428G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799759G>C | CA356638855 | SOD3 | c.238G>C (p.Gly80Arg) n.428G>C | gnomAD v4 |
4 | g.24799759G= | CA1445032582 | SOD3 | c.238G= (p.Gly80=) n.428G= | |
4 | g.24799759G>T | CA356638857 | SOD3 | c.238G>T (p.Gly80Cys) n.428G>T | |
4 | g.24799760G>A | CA356638859 | SOD3 | c.239G>A (p.Gly80Asp) n.429G>A | |
4 | g.24799760G>C | CA356638860 | SOD3 | c.239G>C (p.Gly80Ala) n.429G>C | gnomAD v4 |
4 | g.24799760G>T | CA356638861 | SOD3 | c.239G>T (p.Gly80Val) n.429G>T | |
4 | g.24799761C>A | CA438901831 | SOD3 | c.240C>A (p.Gly80=) n.430C>A | |
4 | g.24799761C= | CA1445032584 | SOD3 | c.240C= (p.Gly80=) n.430C= | |
4 | g.24799761C>G | CA2876242 | SOD3 | c.240C>G (p.Gly80=) n.430C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799761C>T | CA438901832 | SOD3 | c.240C>T (p.Gly80=) n.430C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799762G>A | CA356638862 | SOD3 | c.241G>A (p.Val81Ile) n.431G>A | gnomAD v4 |
4 | g.24799762G>C | CA356638864 | SOD3 | c.241G>C (p.Val81Leu) n.431G>C | |
4 | g.24799762G>T | CA356638863 | SOD3 | c.241G>T (p.Val81Phe) n.431G>T | gnomAD v4 |
4 | g.24799763T>A | CA356638866 | SOD3 | c.242T>A (p.Val81Asp) n.432T>A | |
4 | g.24799763T>C | CA356638867 | SOD3 | c.242T>C (p.Val81Ala) n.432T>C | gnomAD v4 |
4 | g.24799763T>G | CA356638869 | SOD3 | c.242T>G (p.Val81Gly) n.432T>G | dbSNP |
4 | g.24799764C>A | CA438901839 | SOD3 | c.243C>A (p.Val81=) n.433C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799764C= | CA1445032587 | SOD3 | c.243C= (p.Val81=) n.433C= | |
4 | g.24799764C>G | CA438901840 | SOD3 | c.243C>G (p.Val81=) n.433C>G | |
4 | g.24799764C>T | CA438901842 | SOD3 | c.243C>T (p.Val81=) n.433C>T | |
4 | g.24799765G>A | CA356638870 | SOD3 | c.244G>A (p.Val82Ile) n.434G>A | gnomAD v4 |
4 | g.24799765G>C | CA356638872 | SOD3 | c.244G>C (p.Val82Leu) n.434G>C | |
4 | g.24799765G= | CA1445032589 | SOD3 | c.244G= (p.Val82=) n.434G= | |
4 | g.24799765G>T | CA356638874 | SOD3 | c.244G>T (p.Val82Phe) n.434G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799766T>A | CA356638877 | SOD3 | c.245T>A (p.Val82Asp) n.435T>A | |
4 | g.24799766T>C | CA356638879 | SOD3 | c.245T>C (p.Val82Ala) n.435T>C | |
4 | g.24799766T>G | CA356638881 | SOD3 | c.245T>G (p.Val82Gly) n.435T>G | |
4 | g.24799767C>A | CA438901850 | SOD3 | c.246C>A (p.Val82=) n.436C>A | gnomAD v4 |
4 | g.24799767C= | CA1445032590 | SOD3 | c.246C= (p.Val82=) n.436C= | |
4 | g.24799767C>G | CA438901852 | SOD3 | c.246C>G (p.Val82=) n.436C>G | |
4 | g.24799767C>T | CA438901853 | SOD3 | c.246C>T (p.Val82=) n.436C>T | dbSNP gnomAD v2 |
4 | g.24799768C>A | CA356638883 | SOD3 | c.247C>A (p.Leu83Ile) n.437C>A | gnomAD v4 |
4 | g.24799768C>G | CA356638885 | SOD3 | c.247C>G (p.Leu83Val) n.437C>G | |
4 | g.24799768C>T | CA356638887 | SOD3 | c.247C>T (p.Leu83Phe) n.437C>T | |
4 | g.24799769T>A | CA356638888 | SOD3 | c.248T>A (p.Leu83His) n.438T>A | |
4 | g.24799769T>C | CA94297225 | SOD3 | c.248T>C (p.Leu83Pro) n.438T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799769T>G | CA356638891 | SOD3 | c.248T>G (p.Leu83Arg) n.438T>G | |
4 | g.24799769T= | CA1445032593 | SOD3 | c.248T= (p.Leu83=) n.438T= | |
4 | g.24799770C>A | CA438901857 | SOD3 | c.249C>A (p.Leu83=) n.439C>A | gnomAD v4 |
4 | g.24799770C= | CA1445032597 | SOD3 | c.249C= (p.Leu83=) n.439C= | |
4 | g.24799770C>G | CA438901858 | SOD3 | c.249C>G (p.Leu83=) n.439C>G | gnomAD v4 |
4 | g.24799770C>T | CA438901860 | SOD3 | c.249C>T (p.Leu83=) n.439C>T | dbSNP |
4 | g.24799773_24799782del | CA2670208890 | SOD3 | c.252_261del (p.Phe84LeufsTer?) n.442_451del | gnomAD v4 |
4 | g.24799771T>A | CA356638894 | SOD3 | c.250T>A (p.Phe84Ile) n.440T>A | |
4 | g.24799771T>C | CA356638896 | SOD3 | c.250T>C (p.Phe84Leu) n.440T>C | gnomAD v4 |
4 | g.24799771T>G | CA356638903 | SOD3 | c.250T>G (p.Phe84Val) n.440T>G | |
4 | g.24799771_24799772del | CA2670208891 | SOD3 | c.250_251del (p.Phe84ProfsTer?) n.440_441del | gnomAD v4 |
4 | g.24799772T>A | CA356638904 | SOD3 | c.251T>A (p.Phe84Tyr) n.441T>A | |
4 | g.24799772T>C | CA356638905 | SOD3 | c.251T>C (p.Phe84Ser) n.441T>C | |
4 | g.24799772T>G | CA356638906 | SOD3 | c.251T>G (p.Phe84Cys) n.441T>G | |
4 | g.24799773C>A | CA356638907 | SOD3 | c.252C>A (p.Phe84Leu) n.442C>A | gnomAD v4 |
4 | g.24799773C= | CA1445032599 | SOD3 | c.252C= (p.Phe84=) n.442C= | |
4 | g.24799773C>G | CA356638908 | SOD3 | c.252C>G (p.Phe84Leu) n.442C>G | |
4 | g.24799773C>T | CA438901863 | SOD3 | c.252C>T (p.Phe84=) n.442C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799774C>A | CA438901866 | SOD3 | c.253C>A (p.Arg85=) n.443C>A | gnomAD v4 |
4 | g.24799774C= | CA1445032601 | SOD3 | c.253C= (p.Arg85=) n.443C= | |
4 | g.24799774C>G | CA356638909 | SOD3 | c.253C>G (p.Arg85Gly) n.443C>G | dbSNP |
4 | g.24799774C>T | CA356638910 | SOD3 | c.253C>T (p.Arg85Trp) n.443C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799775G>A | CA356638911 | SOD3 | c.254G>A (p.Arg85Gln) n.444G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799775G>C | CA356638912 | SOD3 | c.254G>C (p.Arg85Pro) n.444G>C | gnomAD v4 |
4 | g.24799775G= | CA1445032604 | SOD3 | c.254G= (p.Arg85=) n.444G= | |
4 | g.24799775G>T | CA356638913 | SOD3 | c.254G>T (p.Arg85Leu) n.444G>T | |
4 | g.24799776G>A | CA438901869 | SOD3 | c.255G>A (p.Arg85=) n.445G>A | gnomAD v4 |
4 | g.24799776G>C | CA438901871 | SOD3 | c.255G>C (p.Arg85=) n.445G>C | |
4 | g.24799776G>T | CA438901870 | SOD3 | c.255G>T (p.Arg85=) n.445G>T | |
4 | g.24799777C>A | CA356638916 | SOD3 | c.256C>A (p.Gln86Lys) n.446C>A | |
4 | g.24799777C= | CA1445032606 | SOD3 | c.256C= (p.Gln86=) n.446C= | |
4 | g.24799777C>G | CA356638914 | SOD3 | c.256C>G (p.Gln86Glu) n.446C>G | |
4 | g.24799777C>T | CA356638915 | SOD3 | c.256C>T (p.Gln86Ter) n.446C>T | dbSNP |
4 | g.24799778A>C | CA356638917 | SOD3 | c.257A>C (p.Gln86Pro) n.447A>C | |
4 | g.24799778A>G | CA356638918 | SOD3 | c.257A>G (p.Gln86Arg) n.447A>G | |
4 | g.24799778A>T | CA356638919 | SOD3 | c.257A>T (p.Gln86Leu) n.447A>T | |
4 | g.24799779G>A | CA438901875 | SOD3 | c.258G>A (p.Gln86=) n.448G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799779G>C | CA356638920 | SOD3 | c.258G>C (p.Gln86His) n.448G>C | |
4 | g.24799779G= | CA1445032611 | SOD3 | c.258G= (p.Gln86=) n.448G= | |
4 | g.24799779G>T | CA356638921 | SOD3 | c.258G>T (p.Gln86His) n.448G>T | gnomAD v4 |
4 | g.24799780C>A | CA356638922 | SOD3 | c.259C>A (p.Leu87Ile) n.449C>A | gnomAD v4 |
4 | g.24799780C>G | CA356638923 | SOD3 | c.259C>G (p.Leu87Val) n.449C>G | |
4 | g.24799780C>T | CA356638924 | SOD3 | c.259C>T (p.Leu87Phe) n.449C>T | |
4 | g.24799781T>A | CA356638925 | SOD3 | c.260T>A (p.Leu87His) n.450T>A | |
4 | g.24799781T>C | CA356638926 | SOD3 | c.260T>C (p.Leu87Pro) n.450T>C | dbSNP |
4 | g.24799781T>G | CA356638927 | SOD3 | c.260T>G (p.Leu87Arg) n.450T>G | |
4 | g.24799781T= | CA1445032613 | SOD3 | c.260T= (p.Leu87=) n.450T= | |
4 | g.24799782T>A | CA438901877 | SOD3 | c.261T>A (p.Leu87=) n.451T>A | |
4 | g.24799782T>C | CA438901881 | SOD3 | c.261T>C (p.Leu87=) n.451T>C | |
4 | g.24799782T>G | CA438901879 | SOD3 | c.261T>G (p.Leu87=) n.451T>G | |
4 | g.24799783G>A | CA2876243 | SOD3 | c.262G>A (p.Ala88Thr) n.452G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799783G>C | CA356638929 | SOD3 | c.262G>C (p.Ala88Pro) n.452G>C | |
4 | g.24799783G= | CA1445032615 | SOD3 | c.262G= (p.Ala88=) n.452G= | |
4 | g.24799783G>T | CA356638928 | SOD3 | c.262G>T (p.Ala88Ser) n.452G>T | gnomAD v4 |
4 | g.24799784C>A | CA356638930 | SOD3 | c.263C>A (p.Ala88Glu) n.453C>A | gnomAD v4 |
4 | g.24799784C= | CA1445032617 | SOD3 | c.263C= (p.Ala88=) n.453C= | |
4 | g.24799784C>G | CA2876244 | SOD3 | c.263C>G (p.Ala88Gly) n.453C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799784C>T | CA356638931 | SOD3 | c.263C>T (p.Ala88Val) n.453C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799785G>A | CA2876245 | SOD3 | c.264G>A (p.Ala88=) n.454G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799785G>C | CA438901884 | SOD3 | c.264G>C (p.Ala88=) n.454G>C | |
4 | g.24799785G= | CA1445032619 | SOD3 | c.264G= (p.Ala88=) n.454G= | |
4 | g.24799785G>T | CA438901885 | SOD3 | c.264G>T (p.Ala88=) n.454G>T | |
4 | g.24799786C>A | CA356638932 | SOD3 | c.265C>A (p.Pro89Thr) n.455C>A | ClinVar gnomAD v4 |
4 | g.24799786C= | CA1445032621 | SOD3 | c.265C= (p.Pro89=) n.455C= | |
4 | g.24799786C>G | CA356638933 | SOD3 | c.265C>G (p.Pro89Ala) n.455C>G | |
4 | g.24799786C>T | CA2876246 | SOD3 | c.265C>T (p.Pro89Ser) n.455C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.24799787C>A | CA356638934 | SOD3 | c.266C>A (p.Pro89His) n.456C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799787C= | CA1445032623 | SOD3 | c.266C= (p.Pro89=) n.456C= | |
4 | g.24799787C>G | CA356638935 | SOD3 | c.266C>G (p.Pro89Arg) n.456C>G | |
4 | g.24799787C>T | CA356638936 | SOD3 | c.266C>T (p.Pro89Leu) n.456C>T | gnomAD v4 |
4 | g.24799788C>A | CA438901890 | SOD3 | c.267C>A (p.Pro89=) n.457C>A | |
4 | g.24799788C>G | CA438901891 | SOD3 | c.267C>G (p.Pro89=) n.457C>G | |
4 | g.24799788C>T | CA438901892 | SOD3 | c.267C>T (p.Pro89=) n.457C>T | gnomAD v4 |
4 | g.24799789C>A | CA356638937 | SOD3 | c.268C>A (p.Arg90Ser) n.458C>A | gnomAD v4 |
4 | g.24799789C= | CA1445032626 | SOD3 | c.268C= (p.Arg90=) n.458C= | |
4 | g.24799789C>G | CA356638938 | SOD3 | c.268C>G (p.Arg90Gly) n.458C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799789C>T | CA2876247 | SOD3 | c.268C>T (p.Arg90Cys) n.458C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799790G>A | CA356638941 | SOD3 | c.269G>A (p.Arg90His) n.459G>A | gnomAD v4 |
4 | g.24799790G>C | CA356638940 | SOD3 | c.269G>C (p.Arg90Pro) n.459G>C | |
4 | g.24799790G>T | CA356638939 | SOD3 | c.269G>T (p.Arg90Leu) n.459G>T | |
4 | g.24799791C>A | CA438901896 | SOD3 | c.270C>A (p.Arg90=) n.460C>A | gnomAD v4 |
4 | g.24799791C= | CA1445032629 | SOD3 | c.270C= (p.Arg90=) n.460C= | |
4 | g.24799791C>G | CA438901894 | SOD3 | c.270C>G (p.Arg90=) n.460C>G | |
4 | g.24799791C>T | CA438901895 | SOD3 | c.270C>T (p.Arg90=) n.460C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799792G>A | CA2876248 | SOD3 | c.271G>A (p.Ala91Thr) n.461G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799792G>C | CA356638942 | SOD3 | c.271G>C (p.Ala91Pro) n.461G>C | |
4 | g.24799792G= | CA1445032632 | SOD3 | c.271G= (p.Ala91=) n.461G= | |
4 | g.24799792G>T | CA356638943 | SOD3 | c.271G>T (p.Ala91Ser) n.461G>T | dbSNP gnomAD v4 |
4 | g.24799793C>A | CA356638944 | SOD3 | c.272C>A (p.Ala91Asp) n.462C>A | |
4 | g.24799793C>G | CA356638945 | SOD3 | c.272C>G (p.Ala91Gly) n.462C>G | |
4 | g.24799793C>T | CA356638946 | SOD3 | c.272C>T (p.Ala91Val) n.462C>T | |
4 | g.24799794C>A | CA438901898 | SOD3 | c.273C>A (p.Ala91=) n.463C>A | |
4 | g.24799794C>G | CA438901899 | SOD3 | c.273C>G (p.Ala91=) n.463C>G | |
4 | g.24799794C>T | CA438901900 | SOD3 | c.273C>T (p.Ala91=) n.463C>T | |
4 | g.24799795A= | CA1445032638 | SOD3 | c.274A= (p.Lys92=) n.464A= | |
4 | g.24799795A>C | CA356638947 | SOD3 | c.274A>C (p.Lys92Gln) n.464A>C | |
4 | g.24799795A>G | CA356638948 | SOD3 | c.274A>G (p.Lys92Glu) n.464A>G | dbSNP |
4 | g.24799795A>T | CA356638949 | SOD3 | c.274A>T (p.Lys92Ter) n.464A>T | |
4 | g.24799796A>C | CA356638950 | SOD3 | c.275A>C (p.Lys92Thr) n.465A>C | gnomAD v4 |
4 | g.24799796A>G | CA356638952 | SOD3 | c.275A>G (p.Lys92Arg) n.465A>G | gnomAD v4 |
4 | g.24799796A>T | CA356638953 | SOD3 | c.275A>T (p.Lys92Met) n.465A>T | |
4 | g.24799797G>A | CA438901905 | SOD3 | c.276G>A (p.Lys92=) n.466G>A | gnomAD v4 |
4 | g.24799797G>C | CA356638955 | SOD3 | c.276G>C (p.Lys92Asn) n.466G>C | |
4 | g.24799797G= | CA1445032639 | SOD3 | c.276G= (p.Lys92=) n.466G= | |
4 | g.24799797G>T | CA2876249 | SOD3 | c.276G>T (p.Lys92Asn) n.466G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799798del | CA2760767560 | SOD3 | c.277del (p.Leu93SerfsTer29) n.467del | |
4 | g.24799798C>A | CA356638957 | SOD3 | c.277C>A (p.Leu93Ile) n.467C>A | gnomAD v4 |
4 | g.24799798C= | CA1445032643 | SOD3 | c.277C= (p.Leu93=) n.467C= | |
4 | g.24799798C>G | CA356638959 | SOD3 | c.277C>G (p.Leu93Val) n.467C>G | |
4 | g.24799798C>T | CA356638960 | SOD3 | c.277C>T (p.Leu93Phe) n.467C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799799T>A | CA356638961 | SOD3 | c.278T>A (p.Leu93His) n.468T>A | |
4 | g.24799799T>C | CA356638962 | SOD3 | c.278T>C (p.Leu93Pro) n.468T>C | |
4 | g.24799799T>G | CA356638963 | SOD3 | c.278T>G (p.Leu93Arg) n.468T>G | |
4 | g.24799800C>A | CA438901909 | SOD3 | c.279C>A (p.Leu93=) n.469C>A | gnomAD v4 |
4 | g.24799800C= | CA1445032645 | SOD3 | c.279C= (p.Leu93=) n.469C= | |
4 | g.24799800C>G | CA2876250 | SOD3 | c.279C>G (p.Leu93=) n.469C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799800C>T | CA438901910 | SOD3 | c.279C>T (p.Leu93=) n.469C>T | gnomAD v4 |