UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766153del | CA645562313 | AUTS2 | c.1508del (p.Leu503TrpfsTer?) c.-158del (n.-158del) c.134del (p.Leu45TrpfsTer?) c.1505del (p.Leu502TrpfsTer?) c.352del c.133del n.115del c.764del (p.Leu255TrpfsTer?) c.1217del (p.Leu406TrpfsTer?) c.1034del (p.Leu345TrpfsTer?) c.1007del (p.Leu336TrpfsTer?) | COSMIC |
| 7 | g.70766150T>A | CA367668719 | AUTS2 | c.1505T>A (p.Phe502Tyr) c.-161T>A (n.-161T>A) c.131T>A (p.Phe44Tyr) c.1502T>A (p.Phe501Tyr) c.349T>A c.130T>A n.112T>A c.761T>A (p.Phe254Tyr) c.1214T>A (p.Phe405Tyr) c.1031T>A (p.Phe344Tyr) c.1004T>A (p.Phe335Tyr) | |
| 7 | g.70766150T>C | CA367668721 | AUTS2 | c.1505T>C (p.Phe502Ser) c.-161T>C (n.-161T>C) c.131T>C (p.Phe44Ser) c.1502T>C (p.Phe501Ser) c.349T>C c.130T>C n.112T>C c.761T>C (p.Phe254Ser) c.1214T>C (p.Phe405Ser) c.1031T>C (p.Phe344Ser) c.1004T>C (p.Phe335Ser) | |
| 7 | g.70766150T>G | CA367668720 | AUTS2 | c.1505T>G (p.Phe502Cys) c.-161T>G (n.-161T>G) c.131T>G (p.Phe44Cys) c.1502T>G (p.Phe501Cys) c.349T>G c.130T>G n.112T>G c.761T>G (p.Phe254Cys) c.1214T>G (p.Phe405Cys) c.1031T>G (p.Phe344Cys) c.1004T>G (p.Phe335Cys) | gnomAD v4 |
| 7 | g.70766151T>A | CA367668722 | AUTS2 | c.1506T>A (p.Phe502Leu) c.-160T>A (n.-160T>A) c.132T>A (p.Phe44Leu) c.1503T>A (p.Phe501Leu) c.350T>A c.131T>A n.113T>A c.762T>A (p.Phe254Leu) c.1215T>A (p.Phe405Leu) c.1032T>A (p.Phe344Leu) c.1005T>A (p.Phe335Leu) | |
| 7 | g.70766151T>C | CA455802002 | AUTS2 | c.1506T>C (p.Phe502=) c.-160T>C (n.-160T>C) c.132T>C (p.Phe44=) c.1503T>C (p.Phe501=) c.350T>C c.131T>C n.113T>C c.762T>C (p.Phe254=) c.1215T>C (p.Phe405=) c.1032T>C (p.Phe344=) c.1005T>C (p.Phe335=) | |
| 7 | g.70766151T>G | CA367668723 | AUTS2 | c.1506T>G (p.Phe502Leu) c.-160T>G (n.-160T>G) c.132T>G (p.Phe44Leu) c.1503T>G (p.Phe501Leu) c.350T>G c.131T>G n.113T>G c.762T>G (p.Phe254Leu) c.1215T>G (p.Phe405Leu) c.1032T>G (p.Phe344Leu) c.1005T>G (p.Phe335Leu) | COSMIC |
| 7 | g.70766152T>A | CA367668724 | AUTS2 | c.1507T>A (p.Leu503Met) c.-159T>A (n.-159T>A) c.133T>A (p.Leu45Met) c.1504T>A (p.Leu502Met) c.351T>A c.132T>A n.114T>A c.763T>A (p.Leu255Met) c.1216T>A (p.Leu406Met) c.1033T>A (p.Leu345Met) c.1006T>A (p.Leu336Met) | |
| 7 | g.70766152T>C | CA455802005 | AUTS2 | c.1507T>C (p.Leu503=) c.-159T>C (n.-159T>C) c.133T>C (p.Leu45=) c.1504T>C (p.Leu502=) c.351T>C c.132T>C n.114T>C c.763T>C (p.Leu255=) c.1216T>C (p.Leu406=) c.1033T>C (p.Leu345=) c.1006T>C (p.Leu336=) | |
| 7 | g.70766152T>G | CA367668725 | AUTS2 | c.1507T>G (p.Leu503Val) c.-159T>G (n.-159T>G) c.133T>G (p.Leu45Val) c.1504T>G (p.Leu502Val) c.351T>G c.132T>G n.114T>G c.763T>G (p.Leu255Val) c.1216T>G (p.Leu406Val) c.1033T>G (p.Leu345Val) c.1006T>G (p.Leu336Val) | |
| 7 | g.70766153T>A | CA367668728 | AUTS2 | c.1508T>A (p.Leu503Ter) c.-158T>A (n.-158T>A) c.134T>A (p.Leu45Ter) c.1505T>A (p.Leu502Ter) c.352T>A c.133T>A n.115T>A c.764T>A (p.Leu255Ter) c.1217T>A (p.Leu406Ter) c.1034T>A (p.Leu345Ter) c.1007T>A (p.Leu336Ter) | |
| 7 | g.70766153T>C | CA367668726 | AUTS2 | c.1508T>C (p.Leu503Ser) c.-158T>C (n.-158T>C) c.134T>C (p.Leu45Ser) c.1505T>C (p.Leu502Ser) c.352T>C c.133T>C n.115T>C c.764T>C (p.Leu255Ser) c.1217T>C (p.Leu406Ser) c.1034T>C (p.Leu345Ser) c.1007T>C (p.Leu336Ser) | |
| 7 | g.70766153T>G | CA367668727 | AUTS2 | c.1508T>G (p.Leu503Trp) c.-158T>G (n.-158T>G) c.134T>G (p.Leu45Trp) c.1505T>G (p.Leu502Trp) c.352T>G c.133T>G n.115T>G c.764T>G (p.Leu255Trp) c.1217T>G (p.Leu406Trp) c.1034T>G (p.Leu345Trp) c.1007T>G (p.Leu336Trp) | |
| 7 | g.70766154G>A | CA455802013 | AUTS2 | c.1509G>A (p.Leu503=) c.-157G>A (n.-157G>A) c.135G>A (p.Leu45=) c.1506G>A (p.Leu502=) c.353G>A c.134G>A n.116G>A c.765G>A (p.Leu255=) c.1218G>A (p.Leu406=) c.1035G>A (p.Leu345=) c.1008G>A (p.Leu336=) | |
| 7 | g.70766154G>C | CA367668729 | AUTS2 | c.1509G>C (p.Leu503Phe) c.-157G>C (n.-157G>C) c.135G>C (p.Leu45Phe) c.1506G>C (p.Leu502Phe) c.353G>C c.134G>C n.116G>C c.765G>C (p.Leu255Phe) c.1218G>C (p.Leu406Phe) c.1035G>C (p.Leu345Phe) c.1008G>C (p.Leu336Phe) | |
| 7 | g.70766154G>T | CA367668730 | AUTS2 | c.1509G>T (p.Leu503Phe) c.-157G>T (n.-157G>T) c.135G>T (p.Leu45Phe) c.1506G>T (p.Leu502Phe) c.353G>T c.134G>T n.116G>T c.765G>T (p.Leu255Phe) c.1218G>T (p.Leu406Phe) c.1035G>T (p.Leu345Phe) c.1008G>T (p.Leu336Phe) | |
| 7 | g.70766155G>A | CA367668731 | AUTS2 | c.1510G>A (p.Ala504Thr) c.-156G>A (n.-156G>A) c.136G>A (p.Ala46Thr) c.1507G>A (p.Ala503Thr) c.354G>A c.135G>A n.117G>A c.766G>A (p.Ala256Thr) c.1219G>A (p.Ala407Thr) c.1036G>A (p.Ala346Thr) c.1009G>A (p.Ala337Thr) | gnomAD v4 |
| 7 | g.70766155G>C | CA367668732 | AUTS2 | c.1510G>C (p.Ala504Pro) c.-156G>C (n.-156G>C) c.136G>C (p.Ala46Pro) c.1507G>C (p.Ala503Pro) c.354G>C c.135G>C n.117G>C c.766G>C (p.Ala256Pro) c.1219G>C (p.Ala407Pro) c.1036G>C (p.Ala346Pro) c.1009G>C (p.Ala337Pro) | |
| 7 | g.70766155G>T | CA367668733 | AUTS2 | c.1510G>T (p.Ala504Ser) c.-156G>T (n.-156G>T) c.136G>T (p.Ala46Ser) c.1507G>T (p.Ala503Ser) c.354G>T c.135G>T n.117G>T c.766G>T (p.Ala256Ser) c.1219G>T (p.Ala407Ser) c.1036G>T (p.Ala346Ser) c.1009G>T (p.Ala337Ser) | |
| 7 | g.70766156C>A | CA367668734 | AUTS2 | c.1511C>A (p.Ala504Asp) c.-155C>A (n.-155C>A) c.137C>A (p.Ala46Asp) c.1508C>A (p.Ala503Asp) c.355C>A c.136C>A n.118C>A c.767C>A (p.Ala256Asp) c.1220C>A (p.Ala407Asp) c.1037C>A (p.Ala346Asp) c.1010C>A (p.Ala337Asp) | |
| 7 | g.70766156C>G | CA367668735 | AUTS2 | c.1511C>G (p.Ala504Gly) c.-155C>G (n.-155C>G) c.137C>G (p.Ala46Gly) c.1508C>G (p.Ala503Gly) c.355C>G c.136C>G n.118C>G c.767C>G (p.Ala256Gly) c.1220C>G (p.Ala407Gly) c.1037C>G (p.Ala346Gly) c.1010C>G (p.Ala337Gly) | |
| 7 | g.70766156C>T | CA367668736 | AUTS2 | c.1511C>T (p.Ala504Val) c.-155C>T (n.-155C>T) c.137C>T (p.Ala46Val) c.1508C>T (p.Ala503Val) c.355C>T c.136C>T n.118C>T c.767C>T (p.Ala256Val) c.1220C>T (p.Ala407Val) c.1037C>T (p.Ala346Val) c.1010C>T (p.Ala337Val) | |
| 7 | g.70766157C>A | CA455802021 | AUTS2 | c.1512C>A (p.Ala504=) c.-154C>A (n.-154C>A) c.138C>A (p.Ala46=) c.1509C>A (p.Ala503=) c.356C>A c.137C>A n.119C>A c.768C>A (p.Ala256=) c.1221C>A (p.Ala407=) c.1038C>A (p.Ala346=) c.1011C>A (p.Ala337=) | |
| 7 | g.70766157C>G | CA455802023 | AUTS2 | c.1512C>G (p.Ala504=) c.-154C>G (n.-154C>G) c.138C>G (p.Ala46=) c.1509C>G (p.Ala503=) c.356C>G c.137C>G n.119C>G c.768C>G (p.Ala256=) c.1221C>G (p.Ala407=) c.1038C>G (p.Ala346=) c.1011C>G (p.Ala337=) | |
| 7 | g.70766157C>T | CA455802024 | AUTS2 | c.1512C>T (p.Ala504=) c.-154C>T (n.-154C>T) c.138C>T (p.Ala46=) c.1509C>T (p.Ala503=) c.356C>T c.137C>T n.119C>T c.768C>T (p.Ala256=) c.1221C>T (p.Ala407=) c.1038C>T (p.Ala346=) c.1011C>T (p.Ala337=) | |
| 7 | g.70766158T>A | CA367668737 | AUTS2 | c.1513T>A (p.Ser505Thr) c.-153T>A (n.-153T>A) c.139T>A (p.Ser47Thr) c.1510T>A (p.Ser504Thr) c.357T>A c.138T>A n.120T>A c.769T>A (p.Ser257Thr) c.1222T>A (p.Ser408Thr) c.1039T>A (p.Ser347Thr) c.1012T>A (p.Ser338Thr) | |
| 7 | g.70766158T>C | CA367668738 | AUTS2 | c.1513T>C (p.Ser505Pro) c.-153T>C (n.-153T>C) c.139T>C (p.Ser47Pro) c.1510T>C (p.Ser504Pro) c.357T>C c.138T>C n.120T>C c.769T>C (p.Ser257Pro) c.1222T>C (p.Ser408Pro) c.1039T>C (p.Ser347Pro) c.1012T>C (p.Ser338Pro) | |
| 7 | g.70766158T>G | CA367668739 | AUTS2 | c.1513T>G (p.Ser505Ala) c.-153T>G (n.-153T>G) c.139T>G (p.Ser47Ala) c.1510T>G (p.Ser504Ala) c.357T>G c.138T>G n.120T>G c.769T>G (p.Ser257Ala) c.1222T>G (p.Ser408Ala) c.1039T>G (p.Ser347Ala) c.1012T>G (p.Ser338Ala) | |
| 7 | g.70766159C>A | CA367668740 | AUTS2 | c.1514C>A (p.Ser505Tyr) c.-152C>A (n.-152C>A) c.140C>A (p.Ser47Tyr) c.1511C>A (p.Ser504Tyr) c.358C>A c.139C>A n.121C>A c.770C>A (p.Ser257Tyr) c.1223C>A (p.Ser408Tyr) c.1040C>A (p.Ser347Tyr) c.1013C>A (p.Ser338Tyr) | |
| 7 | g.70766159C>G | CA367668741 | AUTS2 | c.1514C>G (p.Ser505Cys) c.-152C>G (n.-152C>G) c.140C>G (p.Ser47Cys) c.1511C>G (p.Ser504Cys) c.358C>G c.139C>G n.121C>G c.770C>G (p.Ser257Cys) c.1223C>G (p.Ser408Cys) c.1040C>G (p.Ser347Cys) c.1013C>G (p.Ser338Cys) | |
| 7 | g.70766159C>T | CA367668742 | AUTS2 | c.1514C>T (p.Ser505Phe) c.-152C>T (n.-152C>T) c.140C>T (p.Ser47Phe) c.1511C>T (p.Ser504Phe) c.358C>T c.139C>T n.121C>T c.770C>T (p.Ser257Phe) c.1223C>T (p.Ser408Phe) c.1040C>T (p.Ser347Phe) c.1013C>T (p.Ser338Phe) | |
| 7 | g.70766160T>A | CA455802033 | AUTS2 | c.1515T>A (p.Ser505=) c.-151T>A (n.-151T>A) c.141T>A (p.Ser47=) c.1512T>A (p.Ser504=) c.359T>A c.140T>A n.122T>A c.771T>A (p.Ser257=) c.1224T>A (p.Ser408=) c.1041T>A (p.Ser347=) c.1014T>A (p.Ser338=) | gnomAD v4 |
| 7 | g.70766160T>C | CA455802035 | AUTS2 | c.1515T>C (p.Ser505=) c.-151T>C (n.-151T>C) c.141T>C (p.Ser47=) c.1512T>C (p.Ser504=) c.359T>C c.140T>C n.122T>C c.771T>C (p.Ser257=) c.1224T>C (p.Ser408=) c.1041T>C (p.Ser347=) c.1014T>C (p.Ser338=) | |
| 7 | g.70766160T>G | CA455802036 | AUTS2 | c.1515T>G (p.Ser505=) c.-151T>G (n.-151T>G) c.141T>G (p.Ser47=) c.1512T>G (p.Ser504=) c.359T>G c.140T>G n.122T>G c.771T>G (p.Ser257=) c.1224T>G (p.Ser408=) c.1041T>G (p.Ser347=) c.1014T>G (p.Ser338=) | |
| 7 | g.70766161C>A | CA367668745 | AUTS2 | c.1516C>A (p.Gln506Lys) c.-150C>A (n.-150C>A) c.142C>A (p.Gln48Lys) c.1513C>A (p.Gln505Lys) c.360C>A c.141C>A n.123C>A c.772C>A (p.Gln258Lys) c.1225C>A (p.Gln409Lys) c.1042C>A (p.Gln348Lys) c.1015C>A (p.Gln339Lys) | |
| 7 | g.70766161C>G | CA367668743 | AUTS2 | c.1516C>G (p.Gln506Glu) c.-150C>G (n.-150C>G) c.142C>G (p.Gln48Glu) c.1513C>G (p.Gln505Glu) c.360C>G c.141C>G n.123C>G c.772C>G (p.Gln258Glu) c.1225C>G (p.Gln409Glu) c.1042C>G (p.Gln348Glu) c.1015C>G (p.Gln339Glu) | |
| 7 | g.70766161C>T | CA367668744 | AUTS2 | c.1516C>T (p.Gln506Ter) c.-150C>T (n.-150C>T) c.142C>T (p.Gln48Ter) c.1513C>T (p.Gln505Ter) c.360C>T c.141C>T n.123C>T c.772C>T (p.Gln258Ter) c.1225C>T (p.Gln409Ter) c.1042C>T (p.Gln348Ter) c.1015C>T (p.Gln339Ter) | COSMIC |
| 7 | g.70766162A>C | CA367668746 | AUTS2 | c.1517A>C (p.Gln506Pro) c.-149A>C (n.-149A>C) c.143A>C (p.Gln48Pro) c.1514A>C (p.Gln505Pro) c.361A>C c.142A>C n.124A>C c.773A>C (p.Gln258Pro) c.1226A>C (p.Gln409Pro) c.1043A>C (p.Gln348Pro) c.1016A>C (p.Gln339Pro) | |
| 7 | g.70766162A>G | CA367668747 | AUTS2 | c.1517A>G (p.Gln506Arg) c.-149A>G (n.-149A>G) c.143A>G (p.Gln48Arg) c.1514A>G (p.Gln505Arg) c.361A>G c.142A>G n.124A>G c.773A>G (p.Gln258Arg) c.1226A>G (p.Gln409Arg) c.1043A>G (p.Gln348Arg) c.1016A>G (p.Gln339Arg) | |
| 7 | g.70766162A>T | CA367668748 | AUTS2 | c.1517A>T (p.Gln506Leu) c.-149A>T (n.-149A>T) c.143A>T (p.Gln48Leu) c.1514A>T (p.Gln505Leu) c.361A>T c.142A>T n.124A>T c.773A>T (p.Gln258Leu) c.1226A>T (p.Gln409Leu) c.1043A>T (p.Gln348Leu) c.1016A>T (p.Gln339Leu) | |
| 7 | g.70766163G>A | CA4280690 | AUTS2 | c.1518G>A (p.Gln506=) c.-148G>A (n.-148G>A) c.144G>A (p.Gln48=) c.1515G>A (p.Gln505=) c.362G>A c.143G>A n.125G>A c.774G>A (p.Gln258=) c.1227G>A (p.Gln409=) c.1044G>A (p.Gln348=) c.1017G>A (p.Gln339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.70766163G>C | CA367668749 | AUTS2 | c.1518G>C (p.Gln506His) c.-148G>C (n.-148G>C) c.144G>C (p.Gln48His) c.1515G>C (p.Gln505His) c.362G>C c.143G>C n.125G>C c.774G>C (p.Gln258His) c.1227G>C (p.Gln409His) c.1044G>C (p.Gln348His) c.1017G>C (p.Gln339His) | |
| 7 | g.70766163G= | CA1716165961 | AUTS2 | c.1518G= (p.Gln506=) c.-148G= (n.-148G=) c.144G= (p.Gln48=) c.1515G= (p.Gln505=) c.362G= c.143G= n.125G= c.774G= (p.Gln258=) c.1227G= (p.Gln409=) c.1044G= (p.Gln348=) c.1017G= (p.Gln339=) | |
| 7 | g.70766163G>T | CA367668750 | AUTS2 | c.1518G>T (p.Gln506His) c.-148G>T (n.-148G>T) c.144G>T (p.Gln48His) c.1515G>T (p.Gln505His) c.362G>T c.143G>T n.125G>T c.774G>T (p.Gln258His) c.1227G>T (p.Gln409His) c.1044G>T (p.Gln348His) c.1017G>T (p.Gln339His) | |
| 7 | g.70766164A= | CA1716165967 | AUTS2 | c.1519A= (p.Ser507=) c.-147A= (n.-147A=) c.145A= (p.Ser49=) c.1516A= (p.Ser506=) c.363A= c.144A= n.126A= c.775A= (p.Ser259=) c.1228A= (p.Ser410=) c.1045A= (p.Ser349=) c.1018A= (p.Ser340=) | |
| 7 | g.70766164A>C | CA367668751 | AUTS2 | c.1519A>C (p.Ser507Arg) c.-147A>C (n.-147A>C) c.145A>C (p.Ser49Arg) c.1516A>C (p.Ser506Arg) c.363A>C c.144A>C n.126A>C c.775A>C (p.Ser259Arg) c.1228A>C (p.Ser410Arg) c.1045A>C (p.Ser349Arg) c.1018A>C (p.Ser340Arg) | |
| 7 | g.70766164A>G | CA160025931 | AUTS2 | c.1519A>G (p.Ser507Gly) c.-147A>G (n.-147A>G) c.145A>G (p.Ser49Gly) c.1516A>G (p.Ser506Gly) c.363A>G c.144A>G n.126A>G c.775A>G (p.Ser259Gly) c.1228A>G (p.Ser410Gly) c.1045A>G (p.Ser349Gly) c.1018A>G (p.Ser340Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.70766164A>T | CA367668752 | AUTS2 | c.1519A>T (p.Ser507Cys) c.-147A>T (n.-147A>T) c.145A>T (p.Ser49Cys) c.1516A>T (p.Ser506Cys) c.363A>T c.144A>T n.126A>T c.775A>T (p.Ser259Cys) c.1228A>T (p.Ser410Cys) c.1045A>T (p.Ser349Cys) c.1018A>T (p.Ser340Cys) | dbSNP |
| 7 | g.70766165G>A | CA367668753 | AUTS2 | c.1520G>A (p.Ser507Asn) c.-146G>A (n.-146G>A) c.146G>A (p.Ser49Asn) c.1517G>A (p.Ser506Asn) c.364G>A c.145G>A n.127G>A c.776G>A (p.Ser259Asn) c.1229G>A (p.Ser410Asn) c.1046G>A (p.Ser349Asn) c.1019G>A (p.Ser340Asn) | |
| 7 | g.70766165G>C | CA367668754 | AUTS2 | c.1520G>C (p.Ser507Thr) c.-146G>C (n.-146G>C) c.146G>C (p.Ser49Thr) c.1517G>C (p.Ser506Thr) c.364G>C c.145G>C n.127G>C c.776G>C (p.Ser259Thr) c.1229G>C (p.Ser410Thr) c.1046G>C (p.Ser349Thr) c.1019G>C (p.Ser340Thr) |