| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490852_67490856delinsCCAGG | CA1980172665 | AIP | c.1159_1163delinsCCAGG c.663_667delinsCCAGG (p.Ala221=) n.1694_1698delinsCCAGG c.469-145_469-141delinsCCAGG (n.469-145_469-141delinsCCAGG) c.483_487delinsCCAGG (p.Ala161=) c.852_856delinsCCAGG (p.Ala284=) c.844_848delinsCCAGG (p.Pro282=) c.675_679delinsCCAGG (p.Ala225=) c.841_845delinsCCAGG (p.Pro281=) c.672_676delinsCCAGG (p.Ala224=) | |
| 11 | g.67490854_67490857del | CA344209 | AIP | c.1161_1164del c.665_668del (p.Gln222LeufsTer17) n.1696_1699del c.469-143_469-140del (n.469-143_469-140del) c.485_488del (p.Gln162LeufsTer17) c.854_857del (p.Gln285LeufsTer17) c.846_849del (p.Gly283AspfsTer?) c.677_680del (p.Gln226LeufsTer17) c.843_846del (p.Gly282AspfsTer?) c.674_677del (p.Gln225LeufsTer17) c.665_668del (p.Gln222LeufsTer?) | ClinVar dbSNP |
| 11 | g.67490854A>C | CA381554872 | AIP | c.1161A>C c.665A>C (p.Gln222Pro) n.1696A>C c.469-143A>C (n.469-143A>C) c.485A>C (p.Gln162Pro) c.854A>C (p.Gln285Pro) c.846A>C (p.Pro282=) c.677A>C (p.Gln226Pro) c.843A>C (p.Pro281=) c.674A>C (p.Gln225Pro) | |
| 11 | g.67490854A>G | CA381554874 | AIP | c.1161A>G c.665A>G (p.Gln222Arg) n.1696A>G c.469-143A>G (n.469-143A>G) c.485A>G (p.Gln162Arg) c.854A>G (p.Gln285Arg) c.846A>G (p.Pro282=) c.677A>G (p.Gln226Arg) c.843A>G (p.Pro281=) c.674A>G (p.Gln225Arg) | |
| 11 | g.67490854A>T | CA381554877 | AIP | c.1161A>T c.665A>T (p.Gln222Leu) n.1696A>T c.469-143A>T (n.469-143A>T) c.485A>T (p.Gln162Leu) c.854A>T (p.Gln285Leu) c.846A>T (p.Pro282=) c.677A>T (p.Gln226Leu) c.843A>T (p.Pro281=) c.674A>T (p.Gln225Leu) | |
| 11 | g.67490855G>A | CA475509532 | AIP | c.1162G>A c.666G>A (p.Gln222=) n.1697G>A c.469-142G>A (n.469-142G>A) c.486G>A (p.Gln162=) c.855G>A (p.Gln285=) c.847G>A (p.Gly283Ser) c.678G>A (p.Gln226=) c.844G>A (p.Gly282Ser) c.675G>A (p.Gln225=) | |
| 11 | g.67490855G>C | CA381554882 | AIP | c.1162G>C c.666G>C (p.Gln222His) n.1697G>C c.469-142G>C (n.469-142G>C) c.486G>C (p.Gln162His) c.855G>C (p.Gln285His) c.847G>C (p.Gly283Arg) c.678G>C (p.Gln226His) c.844G>C (p.Gly282Arg) c.675G>C (p.Gln225His) | ClinVar dbSNP |
| 11 | g.67490855G= | CA1980172666 | AIP | c.1162G= c.666G= (p.Gln222=) n.1697G= c.469-142G= (n.469-142G=) c.486G= (p.Gln162=) c.855G= (p.Gln285=) c.847G= (p.Gly283=) c.678G= (p.Gln226=) c.844G= (p.Gly282=) c.675G= (p.Gln225=) | |
| 11 | g.67490855G>T | CA381554885 | AIP | c.1162G>T c.666G>T (p.Gln222His) n.1697G>T c.469-142G>T (n.469-142G>T) c.486G>T (p.Gln162His) c.855G>T (p.Gln285His) c.847G>T (p.Gly283Cys) c.678G>T (p.Gln226His) c.844G>T (p.Gly282Cys) c.675G>T (p.Gln225His) | gnomAD v4 |
| 11 | g.67490856G>A | CA381554886 | AIP | c.1163G>A c.667G>A (p.Ala223Thr) n.1698G>A c.469-141G>A (n.469-141G>A) c.487G>A (p.Ala163Thr) c.856G>A (p.Ala286Thr) c.848G>A (p.Gly283Asp) c.679G>A (p.Ala227Thr) c.845G>A (p.Gly282Asp) c.676G>A (p.Ala226Thr) | ClinVar dbSNP |
| 11 | g.67490856G>C | CA381554887 | AIP | c.1163G>C c.667G>C (p.Ala223Pro) n.1698G>C c.469-141G>C (n.469-141G>C) c.487G>C (p.Ala163Pro) c.856G>C (p.Ala286Pro) c.848G>C (p.Gly283Ala) c.679G>C (p.Ala227Pro) c.845G>C (p.Gly282Ala) c.676G>C (p.Ala226Pro) | |
| 11 | g.67490856G= | CA1980172667 | AIP | c.1163G= c.667G= (p.Ala223=) n.1698G= c.469-141G= (n.469-141G=) c.487G= (p.Ala163=) c.856G= (p.Ala286=) c.848G= (p.Gly283=) c.679G= (p.Ala227=) c.845G= (p.Gly282=) c.676G= (p.Ala226=) | |
| 11 | g.67490856G>T | CA381554888 | AIP | c.1163G>T c.667G>T (p.Ala223Ser) n.1698G>T c.469-141G>T (n.469-141G>T) c.487G>T (p.Ala163Ser) c.856G>T (p.Ala286Ser) c.848G>T (p.Gly283Val) c.679G>T (p.Ala227Ser) c.845G>T (p.Gly282Val) c.676G>T (p.Ala226Ser) | |
| 11 | g.67490857C>A | CA381554891 | AIP | c.1164C>A c.668C>A (p.Ala223Asp) n.1699C>A c.469-140C>A (n.469-140C>A) c.488C>A (p.Ala163Asp) c.857C>A (p.Ala286Asp) c.849C>A (p.Gly283=) c.680C>A (p.Ala227Asp) c.846C>A (p.Gly282=) c.677C>A (p.Ala226Asp) | dbSNP |
| 11 | g.67490857C= | CA1980172668 | AIP | c.1164C= c.668C= (p.Ala223=) n.1699C= c.469-140C= (n.469-140C=) c.488C= (p.Ala163=) c.857C= (p.Ala286=) c.849C= (p.Gly283=) c.680C= (p.Ala227=) c.846C= (p.Gly282=) c.677C= (p.Ala226=) | |
| 11 | g.67490857C>G | CA381554893 | AIP | c.1164C>G c.668C>G (p.Ala223Gly) n.1699C>G c.469-140C>G (n.469-140C>G) c.488C>G (p.Ala163Gly) c.857C>G (p.Ala286Gly) c.849C>G (p.Gly283=) c.680C>G (p.Ala227Gly) c.846C>G (p.Gly282=) c.677C>G (p.Ala226Gly) | |
| 11 | g.67490857C>T | CA6140992 | AIP | c.1164C>T c.668C>T (p.Ala223Val) n.1699C>T c.469-140C>T (n.469-140C>T) c.488C>T (p.Ala163Val) c.857C>T (p.Ala286Val) c.849C>T (p.Gly283=) c.680C>T (p.Ala227Val) c.846C>T (p.Gly282=) c.677C>T (p.Ala226Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.67490858T>A | CA475509538 | AIP | c.1165T>A c.669T>A (p.Ala223=) n.1700T>A c.469-139T>A (n.469-139T>A) c.489T>A (p.Ala163=) c.858T>A (p.Ala286=) c.850T>A (p.Ter284Arg) c.681T>A (p.Ala227=) c.847T>A (p.Ter283Arg) c.678T>A (p.Ala226=) | |
| 11 | g.67490858T>C | CA475509537 | AIP | c.1165T>C c.669T>C (p.Ala223=) n.1700T>C c.469-139T>C (n.469-139T>C) c.489T>C (p.Ala163=) c.858T>C (p.Ala286=) c.850T>C (p.Ter284Arg) c.681T>C (p.Ala227=) c.847T>C (p.Ter283Arg) c.678T>C (p.Ala226=) | ClinVar dbSNP |
| 11 | g.67490858T>G | CA475509535 | AIP | c.1165T>G c.669T>G (p.Ala223=) n.1700T>G c.469-139T>G (n.469-139T>G) c.489T>G (p.Ala163=) c.858T>G (p.Ala286=) c.850T>G (p.Ter284Gly) c.681T>G (p.Ala227=) c.847T>G (p.Ter283Gly) c.678T>G (p.Ala226=) | |
| 11 | g.67490858T= | CA1980172669 | AIP | c.1165T= c.669T= (p.Ala223=) n.1700T= c.469-139T= (n.469-139T=) c.489T= (p.Ala163=) c.858T= (p.Ala286=) c.850T= (p.Ter284=) c.681T= (p.Ala227=) c.847T= (p.Ter283=) c.678T= (p.Ala226=) | |
| 11 | g.67490859G>A | CA381554905 | AIP | c.1166G>A c.670G>A (p.Asp224Asn) n.1701G>A c.469-138G>A (n.469-138G>A) c.490G>A (p.Asp164Asn) c.859G>A (p.Asp287Asn) c.851G>A (p.Ter284=) c.682G>A (p.Asp228Asn) c.848G>A (p.Ter283=) c.679G>A (p.Asp227Asn) | |
| 11 | g.67490859G>C | CA381554906 | AIP | c.1166G>C c.670G>C (p.Asp224His) n.1701G>C c.469-138G>C (n.469-138G>C) c.490G>C (p.Asp164His) c.859G>C (p.Asp287His) c.851G>C (p.Ter284Ser) c.682G>C (p.Asp228His) c.848G>C (p.Ter283Ser) c.679G>C (p.Asp227His) | |
| 11 | g.67490859G>T | CA381554902 | AIP | c.1166G>T c.670G>T (p.Asp224Tyr) n.1701G>T c.469-138G>T (n.469-138G>T) c.490G>T (p.Asp164Tyr) c.859G>T (p.Asp287Tyr) c.851G>T (p.Ter284Leu) c.682G>T (p.Asp228Tyr) c.848G>T (p.Ter283Leu) c.679G>T (p.Asp227Tyr) | |
| 11 | g.67490860A>C | CA381554911 | AIP | c.1167A>C c.671A>C (p.Asp224Ala) n.1702A>C c.469-137A>C (n.469-137A>C) c.491A>C (p.Asp164Ala) c.860A>C (p.Asp287Ala) c.852A>C (p.Ter284Cys) c.683A>C (p.Asp228Ala) c.849A>C (p.Ter283Cys) c.680A>C (p.Asp227Ala) | |
| 11 | g.67490860A>G | CA381554915 | AIP | c.1167A>G c.671A>G (p.Asp224Gly) n.1702A>G c.469-137A>G (n.469-137A>G) c.491A>G (p.Asp164Gly) c.860A>G (p.Asp287Gly) c.852A>G (p.Ter284Trp) c.683A>G (p.Asp228Gly) c.849A>G (p.Ter283Trp) c.680A>G (p.Asp227Gly) | |
| 11 | g.67490860A>T | CA381554919 | AIP | c.1167A>T c.671A>T (p.Asp224Val) n.1702A>T c.469-137A>T (n.469-137A>T) c.491A>T (p.Asp164Val) c.860A>T (p.Asp287Val) c.852A>T (p.Ter284Cys) c.683A>T (p.Asp228Val) c.849A>T (p.Ter283Cys) c.680A>T (p.Asp227Val) | |
| 11 | g.67490861C>A | CA381554923 | AIP | c.1168C>A c.672C>A (p.Asp224Glu) n.1703C>A c.469-136C>A (n.469-136C>A) c.492C>A (p.Asp164Glu) c.861C>A (p.Asp287Glu) c.*1C>A (n.*1C>A) c.684C>A (p.Asp228Glu) c.681C>A (p.Asp227Glu) | |
| 11 | g.67490861C>G | CA381554927 | AIP | c.1168C>G c.672C>G (p.Asp224Glu) n.1703C>G c.469-136C>G (n.469-136C>G) c.492C>G (p.Asp164Glu) c.861C>G (p.Asp287Glu) c.*1C>G (n.*1C>G) c.684C>G (p.Asp228Glu) c.681C>G (p.Asp227Glu) | |
| 11 | g.67490861C>T | CA475509540 | AIP | c.1168C>T c.672C>T (p.Asp224=) n.1703C>T c.469-136C>T (n.469-136C>T) c.492C>T (p.Asp164=) c.861C>T (p.Asp287=) c.*1C>T (n.*1C>T) c.684C>T (p.Asp228=) c.681C>T (p.Asp227=) | |
| 11 | g.67490862T>A | CA381554931 | AIP | c.1169T>A c.673T>A (p.Phe225Ile) n.1704T>A c.469-135T>A (n.469-135T>A) c.493T>A (p.Phe165Ile) c.862T>A (p.Phe288Ile) c.*2T>A (n.*2T>A) c.685T>A (p.Phe229Ile) c.682T>A (p.Phe228Ile) | dbSNP |
| 11 | g.67490862T>C | CA381554935 | AIP | c.1169T>C c.673T>C (p.Phe225Leu) n.1704T>C c.469-135T>C (n.469-135T>C) c.493T>C (p.Phe165Leu) c.862T>C (p.Phe288Leu) c.*2T>C (n.*2T>C) c.685T>C (p.Phe229Leu) c.682T>C (p.Phe228Leu) | |
| 11 | g.67490862T>G | CA381554938 | AIP | c.1169T>G c.673T>G (p.Phe225Val) n.1704T>G c.469-135T>G (n.469-135T>G) c.493T>G (p.Phe165Val) c.862T>G (p.Phe288Val) c.*2T>G (n.*2T>G) c.685T>G (p.Phe229Val) c.682T>G (p.Phe228Val) | |
| 11 | g.67490862T= | CA1980172670 | AIP | c.1169T= c.673T= (p.Phe225=) n.1704T= c.469-135T= (n.469-135T=) c.493T= (p.Phe165=) c.862T= (p.Phe288=) c.*2T= (n.*2T=) c.685T= (p.Phe229=) c.682T= (p.Phe228=) | |
| 11 | g.67490863_67490864del | CA2614626118 | AIP | c.1170_1171del c.674_675del (p.Phe225CysfsTer?) n.1705_1706del c.469-134_469-133del (n.469-134_469-133del) c.494_495del (p.Phe165CysfsTer?) c.863_864del (p.Phe288CysfsTer?) c.*3_*4del (n.*3_*4del) c.686_687del (p.Phe229CysfsTer?) c.683_684del (p.Phe228CysfsTer?) | gnomAD v4 |
| 11 | g.67490863T>A | CA381554945 | AIP | c.1170T>A c.674T>A (p.Phe225Tyr) n.1705T>A c.469-134T>A (n.469-134T>A) c.494T>A (p.Phe165Tyr) c.863T>A (p.Phe288Tyr) c.*3T>A (n.*3T>A) c.686T>A (p.Phe229Tyr) c.683T>A (p.Phe228Tyr) | |
| 11 | g.67490863T>C | CA381554949 | AIP | c.1170T>C c.674T>C (p.Phe225Ser) n.1705T>C c.469-134T>C (n.469-134T>C) c.494T>C (p.Phe165Ser) c.863T>C (p.Phe288Ser) c.*3T>C (n.*3T>C) c.686T>C (p.Phe229Ser) c.683T>C (p.Phe228Ser) | |
| 11 | g.67490863T>G | CA381554947 | AIP | c.1170T>G c.674T>G (p.Phe225Cys) n.1705T>G c.469-134T>G (n.469-134T>G) c.494T>G (p.Phe165Cys) c.863T>G (p.Phe288Cys) c.*3T>G (n.*3T>G) c.686T>G (p.Phe229Cys) c.683T>G (p.Phe228Cys) | |
| 11 | g.67490864T>A | CA381554957 | AIP | c.1171T>A c.675T>A (p.Phe225Leu) n.1706T>A c.469-133T>A (n.469-133T>A) c.495T>A (p.Phe165Leu) c.864T>A (p.Phe288Leu) c.*4T>A (n.*4T>A) c.687T>A (p.Phe229Leu) c.684T>A (p.Phe228Leu) | |
| 11 | g.67490864T>C | CA475509544 | AIP | c.1171T>C c.675T>C (p.Phe225=) n.1706T>C c.469-133T>C (n.469-133T>C) c.495T>C (p.Phe165=) c.864T>C (p.Phe288=) c.*4T>C (n.*4T>C) c.687T>C (p.Phe229=) c.684T>C (p.Phe228=) | ClinVar gnomAD v4 |
| 11 | g.67490864T>G | CA381554959 | AIP | c.1171T>G c.675T>G (p.Phe225Leu) n.1706T>G c.469-133T>G (n.469-133T>G) c.495T>G (p.Phe165Leu) c.864T>G (p.Phe288Leu) c.*4T>G (n.*4T>G) c.687T>G (p.Phe229Leu) c.684T>G (p.Phe228Leu) | |
| 11 | g.67490865G>A | CA381554966 | AIP | c.1172G>A c.676G>A (p.Ala226Thr) n.1707G>A c.469-132G>A (n.469-132G>A) c.496G>A (p.Ala166Thr) c.865G>A (p.Ala289Thr) c.*5G>A (n.*5G>A) c.688G>A (p.Ala230Thr) c.685G>A (p.Ala229Thr) | ClinVar dbSNP |
| 11 | g.67490865G>C | CA381554970 | AIP | c.1172G>C c.676G>C (p.Ala226Pro) n.1707G>C c.469-132G>C (n.469-132G>C) c.496G>C (p.Ala166Pro) c.865G>C (p.Ala289Pro) c.*5G>C (n.*5G>C) c.688G>C (p.Ala230Pro) c.685G>C (p.Ala229Pro) | |
| 11 | g.67490865G= | CA1980172671 | AIP | c.1172G= c.676G= (p.Ala226=) n.1707G= c.469-132G= (n.469-132G=) c.496G= (p.Ala166=) c.865G= (p.Ala289=) c.*5G= (n.*5G=) c.688G= (p.Ala230=) c.685G= (p.Ala229=) | |
| 11 | g.67490865G>T | CA381554974 | AIP | c.1172G>T c.676G>T (p.Ala226Ser) n.1707G>T c.469-132G>T (n.469-132G>T) c.496G>T (p.Ala166Ser) c.865G>T (p.Ala289Ser) c.*5G>T (n.*5G>T) c.688G>T (p.Ala230Ser) c.685G>T (p.Ala229Ser) | |
| 11 | g.67490866C>A | CA381554981 | AIP | c.1173C>A c.677C>A (p.Ala226Asp) n.1708C>A c.469-131C>A (n.469-131C>A) c.497C>A (p.Ala166Asp) c.866C>A (p.Ala289Asp) c.*6C>A (n.*6C>A) c.689C>A (p.Ala230Asp) c.686C>A (p.Ala229Asp) | |
| 11 | g.67490866C= | CA1980172672 | AIP | c.1173C= c.677C= (p.Ala226=) n.1708C= c.469-131C= (n.469-131C=) c.497C= (p.Ala166=) c.866C= (p.Ala289=) c.*6C= (n.*6C=) c.689C= (p.Ala230=) c.686C= (p.Ala229=) | |
| 11 | g.67490866C>G | CA381554988 | AIP | c.1173C>G c.677C>G (p.Ala226Gly) n.1708C>G c.469-131C>G (n.469-131C>G) c.497C>G (p.Ala166Gly) c.866C>G (p.Ala289Gly) c.*6C>G (n.*6C>G) c.689C>G (p.Ala230Gly) c.686C>G (p.Ala229Gly) | |
| 11 | g.67490866C>T | CA381554985 | AIP | c.1173C>T c.677C>T (p.Ala226Val) n.1708C>T c.469-131C>T (n.469-131C>T) c.497C>T (p.Ala166Val) c.866C>T (p.Ala289Val) c.*6C>T (n.*6C>T) c.689C>T (p.Ala230Val) c.686C>T (p.Ala229Val) | ClinVar dbSNP |
| 11 | g.67490867C>A | CA6140993 | AIP | c.1174C>A c.678C>A (p.Ala226=) n.1709C>A c.469-130C>A (n.469-130C>A) c.498C>A (p.Ala166=) c.867C>A (p.Ala289=) c.*7C>A (n.*7C>A) c.690C>A (p.Ala230=) c.687C>A (p.Ala229=) | dbSNP ExAC gnomAD v2 |