Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.70766133G>A | CA160025910 | AUTS2 | c.1488G>A (p.Gln496=) c.-178G>A (n.-178G>A) c.114G>A (p.Gln38=) c.1485G>A (p.Gln495=) c.332G>A c.113G>A n.95G>A c.744G>A (p.Gln248=) c.1197G>A (p.Gln399=) c.1014G>A (p.Gln338=) c.987G>A (p.Gln329=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766133G>C | CA367668682 | AUTS2 | c.1488G>C (p.Gln496His) c.-178G>C (n.-178G>C) c.114G>C (p.Gln38His) c.1485G>C (p.Gln495His) c.332G>C c.113G>C n.95G>C c.744G>C (p.Gln248His) c.1197G>C (p.Gln399His) c.1014G>C (p.Gln338His) c.987G>C (p.Gln329His) | |
7 | g.70766133G= | CA1716165945 | AUTS2 | c.1488G= (p.Gln496=) c.-178G= (n.-178G=) c.114G= (p.Gln38=) c.1485G= (p.Gln495=) c.332G= c.113G= n.95G= c.744G= (p.Gln248=) c.1197G= (p.Gln399=) c.1014G= (p.Gln338=) c.987G= (p.Gln329=) | |
7 | g.70766133G>T | CA367668683 | AUTS2 | c.1488G>T (p.Gln496His) c.-178G>T (n.-178G>T) c.114G>T (p.Gln38His) c.1485G>T (p.Gln495His) c.332G>T c.113G>T n.95G>T c.744G>T (p.Gln248His) c.1197G>T (p.Gln399His) c.1014G>T (p.Gln338His) c.987G>T (p.Gln329His) | |
7 | g.70766134G>A | CA367668684 | AUTS2 | c.1489G>A (p.Glu497Lys) c.-177G>A (n.-177G>A) c.115G>A (p.Glu39Lys) c.1486G>A (p.Glu496Lys) c.333G>A c.114G>A n.96G>A c.745G>A (p.Glu249Lys) c.1198G>A (p.Glu400Lys) c.1015G>A (p.Glu339Lys) c.988G>A (p.Glu330Lys) | COSMIC |
7 | g.70766134G>C | CA367668685 | AUTS2 | c.1489G>C (p.Glu497Gln) c.-177G>C (n.-177G>C) c.115G>C (p.Glu39Gln) c.1486G>C (p.Glu496Gln) c.333G>C c.114G>C n.96G>C c.745G>C (p.Glu249Gln) c.1198G>C (p.Glu400Gln) c.1015G>C (p.Glu339Gln) c.988G>C (p.Glu330Gln) | |
7 | g.70766134G>T | CA367668686 | AUTS2 | c.1489G>T (p.Glu497Ter) c.-177G>T (n.-177G>T) c.115G>T (p.Glu39Ter) c.1486G>T (p.Glu496Ter) c.333G>T c.114G>T n.96G>T c.745G>T (p.Glu249Ter) c.1198G>T (p.Glu400Ter) c.1015G>T (p.Glu339Ter) c.988G>T (p.Glu330Ter) | |
7 | g.70766135A>C | CA367668687 | AUTS2 | c.1490A>C (p.Glu497Ala) c.-176A>C (n.-176A>C) c.116A>C (p.Glu39Ala) c.1487A>C (p.Glu496Ala) c.334A>C c.115A>C n.97A>C c.746A>C (p.Glu249Ala) c.1199A>C (p.Glu400Ala) c.1016A>C (p.Glu339Ala) c.989A>C (p.Glu330Ala) | |
7 | g.70766135A>G | CA367668688 | AUTS2 | c.1490A>G (p.Glu497Gly) c.-176A>G (n.-176A>G) c.116A>G (p.Glu39Gly) c.1487A>G (p.Glu496Gly) c.334A>G c.115A>G n.97A>G c.746A>G (p.Glu249Gly) c.1199A>G (p.Glu400Gly) c.1016A>G (p.Glu339Gly) c.989A>G (p.Glu330Gly) | |
7 | g.70766135A>T | CA367668689 | AUTS2 | c.1490A>T (p.Glu497Val) c.-176A>T (n.-176A>T) c.116A>T (p.Glu39Val) c.1487A>T (p.Glu496Val) c.334A>T c.115A>T n.97A>T c.746A>T (p.Glu249Val) c.1199A>T (p.Glu400Val) c.1016A>T (p.Glu339Val) c.989A>T (p.Glu330Val) | |
7 | g.70766136A>C | CA367668690 | AUTS2 | c.1491A>C (p.Glu497Asp) c.-175A>C (n.-175A>C) c.117A>C (p.Glu39Asp) c.1488A>C (p.Glu496Asp) c.335A>C c.116A>C n.98A>C c.747A>C (p.Glu249Asp) c.1200A>C (p.Glu400Asp) c.1017A>C (p.Glu339Asp) c.990A>C (p.Glu330Asp) | |
7 | g.70766136A>G | CA455801947 | AUTS2 | c.1491A>G (p.Glu497=) c.-175A>G (n.-175A>G) c.117A>G (p.Glu39=) c.1488A>G (p.Glu496=) c.335A>G c.116A>G n.98A>G c.747A>G (p.Glu249=) c.1200A>G (p.Glu400=) c.1017A>G (p.Glu339=) c.990A>G (p.Glu330=) | |
7 | g.70766136A>T | CA367668691 | AUTS2 | c.1491A>T (p.Glu497Asp) c.-175A>T (n.-175A>T) c.117A>T (p.Glu39Asp) c.1488A>T (p.Glu496Asp) c.335A>T c.116A>T n.98A>T c.747A>T (p.Glu249Asp) c.1200A>T (p.Glu400Asp) c.1017A>T (p.Glu339Asp) c.990A>T (p.Glu330Asp) | |
7 | g.70766137C>A | CA367668692 | AUTS2 | c.1492C>A (p.Leu498Met) c.-174C>A (n.-174C>A) c.118C>A (p.Leu40Met) c.1489C>A (p.Leu497Met) c.336C>A c.117C>A n.99C>A c.748C>A (p.Leu250Met) c.1201C>A (p.Leu401Met) c.1018C>A (p.Leu340Met) c.991C>A (p.Leu331Met) | |
7 | g.70766137C>G | CA367668693 | AUTS2 | c.1492C>G (p.Leu498Val) c.-174C>G (n.-174C>G) c.118C>G (p.Leu40Val) c.1489C>G (p.Leu497Val) c.336C>G c.117C>G n.99C>G c.748C>G (p.Leu250Val) c.1201C>G (p.Leu401Val) c.1018C>G (p.Leu340Val) c.991C>G (p.Leu331Val) | |
7 | g.70766137C>T | CA455801950 | AUTS2 | c.1492C>T (p.Leu498=) c.-174C>T (n.-174C>T) c.118C>T (p.Leu40=) c.1489C>T (p.Leu497=) c.336C>T c.117C>T n.99C>T c.748C>T (p.Leu250=) c.1201C>T (p.Leu401=) c.1018C>T (p.Leu340=) c.991C>T (p.Leu331=) | |
7 | g.70766138T>A | CA367668694 | AUTS2 | c.1493T>A (p.Leu498Gln) c.-173T>A (n.-173T>A) c.119T>A (p.Leu40Gln) c.1490T>A (p.Leu497Gln) c.337T>A c.118T>A n.100T>A c.749T>A (p.Leu250Gln) c.1202T>A (p.Leu401Gln) c.1019T>A (p.Leu340Gln) c.992T>A (p.Leu331Gln) | |
7 | g.70766138T>C | CA367668695 | AUTS2 | c.1493T>C (p.Leu498Pro) c.-173T>C (n.-173T>C) c.119T>C (p.Leu40Pro) c.1490T>C (p.Leu497Pro) c.337T>C c.118T>C n.100T>C c.749T>C (p.Leu250Pro) c.1202T>C (p.Leu401Pro) c.1019T>C (p.Leu340Pro) c.992T>C (p.Leu331Pro) | |
7 | g.70766138T>G | CA367668696 | AUTS2 | c.1493T>G (p.Leu498Arg) c.-173T>G (n.-173T>G) c.119T>G (p.Leu40Arg) c.1490T>G (p.Leu497Arg) c.337T>G c.118T>G n.100T>G c.749T>G (p.Leu250Arg) c.1202T>G (p.Leu401Arg) c.1019T>G (p.Leu340Arg) c.992T>G (p.Leu331Arg) | |
7 | g.70766139G>A | CA455801961 | AUTS2 | c.1494G>A (p.Leu498=) c.-172G>A (n.-172G>A) c.120G>A (p.Leu40=) c.1491G>A (p.Leu497=) c.338G>A c.119G>A n.101G>A c.750G>A (p.Leu250=) c.1203G>A (p.Leu401=) c.1020G>A (p.Leu340=) c.993G>A (p.Leu331=) | |
7 | g.70766139G>C | CA455801959 | AUTS2 | c.1494G>C (p.Leu498=) c.-172G>C (n.-172G>C) c.120G>C (p.Leu40=) c.1491G>C (p.Leu497=) c.338G>C c.119G>C n.101G>C c.750G>C (p.Leu250=) c.1203G>C (p.Leu401=) c.1020G>C (p.Leu340=) c.993G>C (p.Leu331=) | |
7 | g.70766139G>T | CA455801957 | AUTS2 | c.1494G>T (p.Leu498=) c.-172G>T (n.-172G>T) c.120G>T (p.Leu40=) c.1491G>T (p.Leu497=) c.338G>T c.119G>T n.101G>T c.750G>T (p.Leu250=) c.1203G>T (p.Leu401=) c.1020G>T (p.Leu340=) c.993G>T (p.Leu331=) | |
7 | g.70766140A>C | CA367668697 | AUTS2 | c.1495A>C (p.Asn499His) c.-171A>C (n.-171A>C) c.121A>C (p.Asn41His) c.1492A>C (p.Asn498His) c.339A>C c.120A>C n.102A>C c.751A>C (p.Asn251His) c.1204A>C (p.Asn402His) c.1021A>C (p.Asn341His) c.994A>C (p.Asn332His) | |
7 | g.70766140A>G | CA367668699 | AUTS2 | c.1495A>G (p.Asn499Asp) c.-171A>G (n.-171A>G) c.121A>G (p.Asn41Asp) c.1492A>G (p.Asn498Asp) c.339A>G c.120A>G n.102A>G c.751A>G (p.Asn251Asp) c.1204A>G (p.Asn402Asp) c.1021A>G (p.Asn341Asp) c.994A>G (p.Asn332Asp) | |
7 | g.70766140A>T | CA367668698 | AUTS2 | c.1495A>T (p.Asn499Tyr) c.-171A>T (n.-171A>T) c.121A>T (p.Asn41Tyr) c.1492A>T (p.Asn498Tyr) c.339A>T c.120A>T n.102A>T c.751A>T (p.Asn251Tyr) c.1204A>T (p.Asn402Tyr) c.1021A>T (p.Asn341Tyr) c.994A>T (p.Asn332Tyr) | |
7 | g.70766141A= | CA1716165948 | AUTS2 | c.1496A= (p.Asn499=) c.-170A= (n.-170A=) c.122A= (p.Asn41=) c.1493A= (p.Asn498=) c.340A= c.121A= n.103A= c.752A= (p.Asn251=) c.1205A= (p.Asn402=) c.1022A= (p.Asn341=) c.995A= (p.Asn332=) | |
7 | g.70766141A>C | CA367668700 | AUTS2 | c.1496A>C (p.Asn499Thr) c.-170A>C (n.-170A>C) c.122A>C (p.Asn41Thr) c.1493A>C (p.Asn498Thr) c.340A>C c.121A>C n.103A>C c.752A>C (p.Asn251Thr) c.1205A>C (p.Asn402Thr) c.1022A>C (p.Asn341Thr) c.995A>C (p.Asn332Thr) | |
7 | g.70766141A>G | CA4280688 | AUTS2 | c.1496A>G (p.Asn499Ser) c.-170A>G (n.-170A>G) c.122A>G (p.Asn41Ser) c.1493A>G (p.Asn498Ser) c.340A>G c.121A>G n.103A>G c.752A>G (p.Asn251Ser) c.1205A>G (p.Asn402Ser) c.1022A>G (p.Asn341Ser) c.995A>G (p.Asn332Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766141A>T | CA367668701 | AUTS2 | c.1496A>T (p.Asn499Ile) c.-170A>T (n.-170A>T) c.122A>T (p.Asn41Ile) c.1493A>T (p.Asn498Ile) c.340A>T c.121A>T n.103A>T c.752A>T (p.Asn251Ile) c.1205A>T (p.Asn402Ile) c.1022A>T (p.Asn341Ile) c.995A>T (p.Asn332Ile) | |
7 | g.70766142C>A | CA367668702 | AUTS2 | c.1497C>A (p.Asn499Lys) c.-169C>A (n.-169C>A) c.123C>A (p.Asn41Lys) c.1494C>A (p.Asn498Lys) c.341C>A c.122C>A n.104C>A c.753C>A (p.Asn251Lys) c.1206C>A (p.Asn402Lys) c.1023C>A (p.Asn341Lys) c.996C>A (p.Asn332Lys) | |
7 | g.70766142C= | CA1716165957 | AUTS2 | c.1497C= (p.Asn499=) c.-169C= (n.-169C=) c.123C= (p.Asn41=) c.1494C= (p.Asn498=) c.341C= c.122C= n.104C= c.753C= (p.Asn251=) c.1206C= (p.Asn402=) c.1023C= (p.Asn341=) c.996C= (p.Asn332=) | |
7 | g.70766142C>G | CA367668703 | AUTS2 | c.1497C>G (p.Asn499Lys) c.-169C>G (n.-169C>G) c.123C>G (p.Asn41Lys) c.1494C>G (p.Asn498Lys) c.341C>G c.122C>G n.104C>G c.753C>G (p.Asn251Lys) c.1206C>G (p.Asn402Lys) c.1023C>G (p.Asn341Lys) c.996C>G (p.Asn332Lys) | |
7 | g.70766142C>T | CA4280689 | AUTS2 | c.1497C>T (p.Asn499=) c.-169C>T (n.-169C>T) c.123C>T (p.Asn41=) c.1494C>T (p.Asn498=) c.341C>T c.122C>T n.104C>T c.753C>T (p.Asn251=) c.1206C>T (p.Asn402=) c.1023C>T (p.Asn341=) c.996C>T (p.Asn332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766143A>C | CA367668704 | AUTS2 | c.1498A>C (p.Thr500Pro) c.-168A>C (n.-168A>C) c.124A>C (p.Thr42Pro) c.1495A>C (p.Thr499Pro) c.342A>C c.123A>C n.105A>C c.754A>C (p.Thr252Pro) c.1207A>C (p.Thr403Pro) c.1024A>C (p.Thr342Pro) c.997A>C (p.Thr333Pro) | |
7 | g.70766143A>G | CA367668705 | AUTS2 | c.1498A>G (p.Thr500Ala) c.-168A>G (n.-168A>G) c.124A>G (p.Thr42Ala) c.1495A>G (p.Thr499Ala) c.342A>G c.123A>G n.105A>G c.754A>G (p.Thr252Ala) c.1207A>G (p.Thr403Ala) c.1024A>G (p.Thr342Ala) c.997A>G (p.Thr333Ala) | gnomAD v4 |
7 | g.70766143A>T | CA367668706 | AUTS2 | c.1498A>T (p.Thr500Ser) c.-168A>T (n.-168A>T) c.124A>T (p.Thr42Ser) c.1495A>T (p.Thr499Ser) c.342A>T c.123A>T n.105A>T c.754A>T (p.Thr252Ser) c.1207A>T (p.Thr403Ser) c.1024A>T (p.Thr342Ser) c.997A>T (p.Thr333Ser) | |
7 | g.70766144C>A | CA367668707 | AUTS2 | c.1499C>A (p.Thr500Asn) c.-167C>A (n.-167C>A) c.125C>A (p.Thr42Asn) c.1496C>A (p.Thr499Asn) c.343C>A c.124C>A n.106C>A c.755C>A (p.Thr252Asn) c.1208C>A (p.Thr403Asn) c.1025C>A (p.Thr342Asn) c.998C>A (p.Thr333Asn) | |
7 | g.70766144C>G | CA367668708 | AUTS2 | c.1499C>G (p.Thr500Ser) c.-167C>G (n.-167C>G) c.125C>G (p.Thr42Ser) c.1496C>G (p.Thr499Ser) c.343C>G c.124C>G n.106C>G c.755C>G (p.Thr252Ser) c.1208C>G (p.Thr403Ser) c.1025C>G (p.Thr342Ser) c.998C>G (p.Thr333Ser) | |
7 | g.70766144C>T | CA367668709 | AUTS2 | c.1499C>T (p.Thr500Ile) c.-167C>T (n.-167C>T) c.125C>T (p.Thr42Ile) c.1496C>T (p.Thr499Ile) c.343C>T c.124C>T n.106C>T c.755C>T (p.Thr252Ile) c.1208C>T (p.Thr403Ile) c.1025C>T (p.Thr342Ile) c.998C>T (p.Thr333Ile) | |
7 | g.70766145T>A | CA455801979 | AUTS2 | c.1500T>A (p.Thr500=) c.-166T>A (n.-166T>A) c.126T>A (p.Thr42=) c.1497T>A (p.Thr499=) c.344T>A c.125T>A n.107T>A c.756T>A (p.Thr252=) c.1209T>A (p.Thr403=) c.1026T>A (p.Thr342=) c.999T>A (p.Thr333=) | |
7 | g.70766145T>C | CA455801981 | AUTS2 | c.1500T>C (p.Thr500=) c.-166T>C (n.-166T>C) c.126T>C (p.Thr42=) c.1497T>C (p.Thr499=) c.344T>C c.125T>C n.107T>C c.756T>C (p.Thr252=) c.1209T>C (p.Thr403=) c.1026T>C (p.Thr342=) c.999T>C (p.Thr333=) | |
7 | g.70766145T>G | CA455801977 | AUTS2 | c.1500T>G (p.Thr500=) c.-166T>G (n.-166T>G) c.126T>G (p.Thr42=) c.1497T>G (p.Thr499=) c.344T>G c.125T>G n.107T>G c.756T>G (p.Thr252=) c.1209T>G (p.Thr403=) c.1026T>G (p.Thr342=) c.999T>G (p.Thr333=) | |
7 | g.70766146C>A | CA367668711 | AUTS2 | c.1501C>A (p.Arg501Ser) c.-165C>A (n.-165C>A) c.127C>A (p.Arg43Ser) c.1498C>A (p.Arg500Ser) c.345C>A c.126C>A n.108C>A c.757C>A (p.Arg253Ser) c.1210C>A (p.Arg404Ser) c.1027C>A (p.Arg343Ser) c.1000C>A (p.Arg334Ser) | gnomAD v4 |
7 | g.70766146C>G | CA367668712 | AUTS2 | c.1501C>G (p.Arg501Gly) c.-165C>G (n.-165C>G) c.127C>G (p.Arg43Gly) c.1498C>G (p.Arg500Gly) c.345C>G c.126C>G n.108C>G c.757C>G (p.Arg253Gly) c.1210C>G (p.Arg404Gly) c.1027C>G (p.Arg343Gly) c.1000C>G (p.Arg334Gly) | |
7 | g.70766146C>T | CA367668710 | AUTS2 | c.1501C>T (p.Arg501Cys) c.-165C>T (n.-165C>T) c.127C>T (p.Arg43Cys) c.1498C>T (p.Arg500Cys) c.345C>T c.126C>T n.108C>T c.757C>T (p.Arg253Cys) c.1210C>T (p.Arg404Cys) c.1027C>T (p.Arg343Cys) c.1000C>T (p.Arg334Cys) | |
7 | g.70766147G>A | CA367668713 | AUTS2 | c.1502G>A (p.Arg501His) c.-164G>A (n.-164G>A) c.128G>A (p.Arg43His) c.1499G>A (p.Arg500His) c.346G>A c.127G>A n.109G>A c.758G>A (p.Arg253His) c.1211G>A (p.Arg404His) c.1028G>A (p.Arg343His) c.1001G>A (p.Arg334His) | |
7 | g.70766147G>C | CA367668714 | AUTS2 | c.1502G>C (p.Arg501Pro) c.-164G>C (n.-164G>C) c.128G>C (p.Arg43Pro) c.1499G>C (p.Arg500Pro) c.346G>C c.127G>C n.109G>C c.758G>C (p.Arg253Pro) c.1211G>C (p.Arg404Pro) c.1028G>C (p.Arg343Pro) c.1001G>C (p.Arg334Pro) | |
7 | g.70766147G>T | CA367668715 | AUTS2 | c.1502G>T (p.Arg501Leu) c.-164G>T (n.-164G>T) c.128G>T (p.Arg43Leu) c.1499G>T (p.Arg500Leu) c.346G>T c.127G>T n.109G>T c.758G>T (p.Arg253Leu) c.1211G>T (p.Arg404Leu) c.1028G>T (p.Arg343Leu) c.1001G>T (p.Arg334Leu) | |
7 | g.70766148T>A | CA455801993 | AUTS2 | c.1503T>A (p.Arg501=) c.-163T>A (n.-163T>A) c.129T>A (p.Arg43=) c.1500T>A (p.Arg500=) c.347T>A c.128T>A n.110T>A c.759T>A (p.Arg253=) c.1212T>A (p.Arg404=) c.1029T>A (p.Arg343=) c.1002T>A (p.Arg334=) | |
7 | g.70766148T>C | CA455801991 | AUTS2 | c.1503T>C (p.Arg501=) c.-163T>C (n.-163T>C) c.129T>C (p.Arg43=) c.1500T>C (p.Arg500=) c.347T>C c.128T>C n.110T>C c.759T>C (p.Arg253=) c.1212T>C (p.Arg404=) c.1029T>C (p.Arg343=) c.1002T>C (p.Arg334=) |