| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766128C>A | CA455801922 | AUTS2 | c.1483C>A (p.Arg495=) c.-183C>A (n.-183C>A) c.109C>A (p.Arg37=) c.1480C>A (p.Arg494=) c.327C>A c.108C>A n.90C>A c.739C>A (p.Arg247=) c.1192C>A (p.Arg398=) c.1009C>A (p.Arg337=) c.982C>A (p.Arg328=) | COSMIC |
| 7 | g.70766128C= | CA1716165932 | AUTS2 | c.1483C= (p.Arg495=) c.-183C= (n.-183C=) c.109C= (p.Arg37=) c.1480C= (p.Arg494=) c.327C= c.108C= n.90C= c.739C= (p.Arg247=) c.1192C= (p.Arg398=) c.1009C= (p.Arg337=) c.982C= (p.Arg328=) | |
| 7 | g.70766128C>G | CA367668672 | AUTS2 | c.1483C>G (p.Arg495Gly) c.-183C>G (n.-183C>G) c.109C>G (p.Arg37Gly) c.1480C>G (p.Arg494Gly) c.327C>G c.108C>G n.90C>G c.739C>G (p.Arg247Gly) c.1192C>G (p.Arg398Gly) c.1009C>G (p.Arg337Gly) c.982C>G (p.Arg328Gly) | |
| 7 | g.70766128C>T | CA16042597 | AUTS2 | c.1483C>T (p.Arg495Ter) c.-183C>T (n.-183C>T) c.109C>T (p.Arg37Ter) c.1480C>T (p.Arg494Ter) c.327C>T c.108C>T n.90C>T c.739C>T (p.Arg247Ter) c.1192C>T (p.Arg398Ter) c.1009C>T (p.Arg337Ter) c.982C>T (p.Arg328Ter) | ClinVar dbSNP |
| 7 | g.70766129G>A | CA367668673 | AUTS2 | c.1484G>A (p.Arg495Gln) c.-182G>A (n.-182G>A) c.110G>A (p.Arg37Gln) c.1481G>A (p.Arg494Gln) c.328G>A c.109G>A n.91G>A c.740G>A (p.Arg247Gln) c.1193G>A (p.Arg398Gln) c.1010G>A (p.Arg337Gln) c.983G>A (p.Arg328Gln) | COSMIC |
| 7 | g.70766129G>C | CA367668674 | AUTS2 | c.1484G>C (p.Arg495Pro) c.-182G>C (n.-182G>C) c.110G>C (p.Arg37Pro) c.1481G>C (p.Arg494Pro) c.328G>C c.109G>C n.91G>C c.740G>C (p.Arg247Pro) c.1193G>C (p.Arg398Pro) c.1010G>C (p.Arg337Pro) c.983G>C (p.Arg328Pro) | |
| 7 | g.70766129G>T | CA367668675 | AUTS2 | c.1484G>T (p.Arg495Leu) c.-182G>T (n.-182G>T) c.110G>T (p.Arg37Leu) c.1481G>T (p.Arg494Leu) c.328G>T c.109G>T n.91G>T c.740G>T (p.Arg247Leu) c.1193G>T (p.Arg398Leu) c.1010G>T (p.Arg337Leu) c.983G>T (p.Arg328Leu) | |
| 7 | g.70766130A= | CA1716165937 | AUTS2 | c.1485A= (p.Arg495=) c.-181A= (n.-181A=) c.111A= (p.Arg37=) c.1482A= (p.Arg494=) c.329A= c.110A= n.92A= c.741A= (p.Arg247=) c.1194A= (p.Arg398=) c.1011A= (p.Arg337=) c.984A= (p.Arg328=) | |
| 7 | g.70766130A>C | CA455801928 | AUTS2 | c.1485A>C (p.Arg495=) c.-181A>C (n.-181A>C) c.111A>C (p.Arg37=) c.1482A>C (p.Arg494=) c.329A>C c.110A>C n.92A>C c.741A>C (p.Arg247=) c.1194A>C (p.Arg398=) c.1011A>C (p.Arg337=) c.984A>C (p.Arg328=) | |
| 7 | g.70766130A>G | CA455801930 | AUTS2 | c.1485A>G (p.Arg495=) c.-181A>G (n.-181A>G) c.111A>G (p.Arg37=) c.1482A>G (p.Arg494=) c.329A>G c.110A>G n.92A>G c.741A>G (p.Arg247=) c.1194A>G (p.Arg398=) c.1011A>G (p.Arg337=) c.984A>G (p.Arg328=) | |
| 7 | g.70766130A>T | CA455801931 | AUTS2 | c.1485A>T (p.Arg495=) c.-181A>T (n.-181A>T) c.111A>T (p.Arg37=) c.1482A>T (p.Arg494=) c.329A>T c.110A>T n.92A>T c.741A>T (p.Arg247=) c.1194A>T (p.Arg398=) c.1011A>T (p.Arg337=) c.984A>T (p.Arg328=) | |
| 7 | g.70766131C>A | CA367668676 | AUTS2 | c.1486C>A (p.Gln496Lys) c.-180C>A (n.-180C>A) c.112C>A (p.Gln38Lys) c.1483C>A (p.Gln495Lys) c.330C>A c.111C>A n.93C>A c.742C>A (p.Gln248Lys) c.1195C>A (p.Gln399Lys) c.1012C>A (p.Gln338Lys) c.985C>A (p.Gln329Lys) | |
| 7 | g.70766131C>G | CA367668677 | AUTS2 | c.1486C>G (p.Gln496Glu) c.-180C>G (n.-180C>G) c.112C>G (p.Gln38Glu) c.1483C>G (p.Gln495Glu) c.330C>G c.111C>G n.93C>G c.742C>G (p.Gln248Glu) c.1195C>G (p.Gln399Glu) c.1012C>G (p.Gln338Glu) c.985C>G (p.Gln329Glu) | |
| 7 | g.70766131C>T | CA367668678 | AUTS2 | c.1486C>T (p.Gln496Ter) c.-180C>T (n.-180C>T) c.112C>T (p.Gln38Ter) c.1483C>T (p.Gln495Ter) c.330C>T c.111C>T n.93C>T c.742C>T (p.Gln248Ter) c.1195C>T (p.Gln399Ter) c.1012C>T (p.Gln338Ter) c.985C>T (p.Gln329Ter) | |
| 7 | g.70766131dup | CA354074 | AUTS2 | c.1486dup (p.Gln496ProfsTer14) c.-180dup (n.-180dup) c.112dup (p.Gln38ProfsTer14) c.1483dup (p.Gln495ProfsTer14) c.330dup c.111dup n.93dup c.742dup (p.Gln248ProfsTer14) c.1195dup (p.Gln399ProfsTer14) c.1012dup (p.Gln338ProfsTer14) c.985dup (p.Gln329ProfsTer14) | ClinVar dbSNP |
| 7 | g.70766131_70766132delinsCA | CA1716165941 | AUTS2 | c.1486_1487delinsCA (p.Gln496=) c.-180_-179delinsCA (n.-180_-179delinsCA) c.112_113delinsCA (p.Gln38=) c.1483_1484delinsCA (p.Gln495=) c.330_331delinsCA c.111_112delinsCA n.93_94delinsCA c.742_743delinsCA (p.Gln248=) c.1195_1196delinsCA (p.Gln399=) c.1012_1013delinsCA (p.Gln338=) c.985_986delinsCA (p.Gln329=) | |
| 7 | g.70766132del | CA658657674 | AUTS2 | c.1487del (p.Gln496ArgfsTer3) c.-179del (n.-179del) c.113del (p.Gln38ArgfsTer3) c.1484del (p.Gln495ArgfsTer3) c.331del c.112del n.94del c.743del (p.Gln248ArgfsTer3) c.1196del (p.Gln399ArgfsTer3) c.1013del (p.Gln338ArgfsTer3) c.986del (p.Gln329ArgfsTer3) | ClinVar dbSNP |
| 7 | g.70766132A>C | CA367668679 | AUTS2 | c.1487A>C (p.Gln496Pro) c.-179A>C (n.-179A>C) c.113A>C (p.Gln38Pro) c.1484A>C (p.Gln495Pro) c.331A>C c.112A>C n.94A>C c.743A>C (p.Gln248Pro) c.1196A>C (p.Gln399Pro) c.1013A>C (p.Gln338Pro) c.986A>C (p.Gln329Pro) | |
| 7 | g.70766132A>G | CA367668680 | AUTS2 | c.1487A>G (p.Gln496Arg) c.-179A>G (n.-179A>G) c.113A>G (p.Gln38Arg) c.1484A>G (p.Gln495Arg) c.331A>G c.112A>G n.94A>G c.743A>G (p.Gln248Arg) c.1196A>G (p.Gln399Arg) c.1013A>G (p.Gln338Arg) c.986A>G (p.Gln329Arg) | |
| 7 | g.70766132A>T | CA367668681 | AUTS2 | c.1487A>T (p.Gln496Leu) c.-179A>T (n.-179A>T) c.113A>T (p.Gln38Leu) c.1484A>T (p.Gln495Leu) c.331A>T c.112A>T n.94A>T c.743A>T (p.Gln248Leu) c.1196A>T (p.Gln399Leu) c.1013A>T (p.Gln338Leu) c.986A>T (p.Gln329Leu) | |
| 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) |