| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490155A>C | CA381550980 | AIP | c.563A>C c.397A>C (p.Lys133Gln) n.1098A>C c.468+700A>C (n.468+700A>C) c.217A>C (p.Lys73Gln) c.586A>C (p.Lys196Gln) c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) c.238A>C (p.Lys80Gln) | |
| 11 | g.67490155A>G | CA381550982 | AIP | c.563A>G c.397A>G (p.Lys133Glu) n.1098A>G c.468+700A>G (n.468+700A>G) c.217A>G (p.Lys73Glu) c.586A>G (p.Lys196Glu) c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) c.238A>G (p.Lys80Glu) | |
| 11 | g.67490155A>T | CA381550987 | AIP | c.563A>T c.397A>T (p.Lys133Ter) n.1098A>T c.468+700A>T (n.468+700A>T) c.217A>T (p.Lys73Ter) c.586A>T (p.Lys196Ter) c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) c.238A>T (p.Lys80Ter) | |
| 11 | g.67490156A= | CA1980172324 | AIP | c.564A= c.398A= (p.Lys133=) n.1099A= c.468+701A= (n.468+701A=) c.218A= (p.Lys73=) c.587A= (p.Lys196=) c.410A= (p.Lys137=) c.407A= (p.Lys136=) c.239A= (p.Lys80=) | |
| 11 | g.67490156A>C | CA381550993 | AIP | c.564A>C c.398A>C (p.Lys133Thr) n.1099A>C c.468+701A>C (n.468+701A>C) c.218A>C (p.Lys73Thr) c.587A>C (p.Lys196Thr) c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) c.239A>C (p.Lys80Thr) | ClinVar dbSNP |
| 11 | g.67490156A>G | CA381550996 | AIP | c.564A>G c.398A>G (p.Lys133Arg) n.1099A>G c.468+701A>G (n.468+701A>G) c.218A>G (p.Lys73Arg) c.587A>G (p.Lys196Arg) c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) c.239A>G (p.Lys80Arg) | ClinVar |
| 11 | g.67490156A>T | CA381550998 | AIP | c.564A>T c.398A>T (p.Lys133Met) n.1099A>T c.468+701A>T (n.468+701A>T) c.218A>T (p.Lys73Met) c.587A>T (p.Lys196Met) c.410A>T (p.Lys137Met) c.407A>T (p.Lys136Met) c.239A>T (p.Lys80Met) | |
| 11 | g.67490157G>A | CA475509238 | AIP | c.565G>A c.399G>A (p.Lys133=) n.1100G>A c.468+702G>A (n.468+702G>A) c.219G>A (p.Lys73=) c.588G>A (p.Lys196=) c.411G>A (p.Lys137=) c.408G>A (p.Lys136=) c.240G>A (p.Lys80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490157G>C | CA381551004 | AIP | c.565G>C c.399G>C (p.Lys133Asn) n.1100G>C c.468+702G>C (n.468+702G>C) c.219G>C (p.Lys73Asn) c.588G>C (p.Lys196Asn) c.411G>C (p.Lys137Asn) c.408G>C (p.Lys136Asn) c.240G>C (p.Lys80Asn) | |
| 11 | g.67490157G= | CA1980172325 | AIP | c.565G= c.399G= (p.Lys133=) n.1100G= c.468+702G= (n.468+702G=) c.219G= (p.Lys73=) c.588G= (p.Lys196=) c.411G= (p.Lys137=) c.408G= (p.Lys136=) c.240G= (p.Lys80=) | |
| 11 | g.67490157G>T | CA381551001 | AIP | c.565G>T c.399G>T (p.Lys133Asn) n.1100G>T c.468+702G>T (n.468+702G>T) c.219G>T (p.Lys73Asn) c.588G>T (p.Lys196Asn) c.411G>T (p.Lys137Asn) c.408G>T (p.Lys136Asn) c.240G>T (p.Lys80Asn) | |
| 11 | g.67490158G>A | CA381551008 | AIP | c.566G>A c.400G>A (p.Glu134Lys) n.1101G>A c.468+703G>A (n.468+703G>A) c.220G>A (p.Glu74Lys) c.589G>A (p.Glu197Lys) c.412G>A (p.Glu138Lys) c.409G>A (p.Glu137Lys) c.241G>A (p.Glu81Lys) | |
| 11 | g.67490158G>C | CA381551011 | AIP | c.566G>C c.400G>C (p.Glu134Gln) n.1101G>C c.468+703G>C (n.468+703G>C) c.220G>C (p.Glu74Gln) c.589G>C (p.Glu197Gln) c.412G>C (p.Glu138Gln) c.409G>C (p.Glu137Gln) c.241G>C (p.Glu81Gln) | |
| 11 | g.67490158G>T | CA381551013 | AIP | c.566G>T c.400G>T (p.Glu134Ter) n.1101G>T c.468+703G>T (n.468+703G>T) c.220G>T (p.Glu74Ter) c.589G>T (p.Glu197Ter) c.412G>T (p.Glu138Ter) c.409G>T (p.Glu137Ter) c.241G>T (p.Glu81Ter) | |
| 11 | g.67490159A>C | CA381551016 | AIP | c.567A>C c.401A>C (p.Glu134Ala) n.1102A>C c.468+704A>C (n.468+704A>C) c.221A>C (p.Glu74Ala) c.590A>C (p.Glu197Ala) c.413A>C (p.Glu138Ala) c.410A>C (p.Glu137Ala) c.242A>C (p.Glu81Ala) | |
| 11 | g.67490159A>G | CA381551017 | AIP | c.567A>G c.401A>G (p.Glu134Gly) n.1102A>G c.468+704A>G (n.468+704A>G) c.221A>G (p.Glu74Gly) c.590A>G (p.Glu197Gly) c.413A>G (p.Glu138Gly) c.410A>G (p.Glu137Gly) c.242A>G (p.Glu81Gly) | ClinVar |
| 11 | g.67490159A>T | CA381551018 | AIP | c.567A>T c.401A>T (p.Glu134Val) n.1102A>T c.468+704A>T (n.468+704A>T) c.221A>T (p.Glu74Val) c.590A>T (p.Glu197Val) c.413A>T (p.Glu138Val) c.410A>T (p.Glu137Val) c.242A>T (p.Glu81Val) | |
| 11 | g.67490160G>A | CA344134 | AIP | c.568G>A c.402G>A (p.Glu134=) n.1103G>A c.468+705G>A (n.468+705G>A) c.222G>A (p.Glu74=) c.591G>A (p.Glu197=) c.414G>A (p.Glu138=) c.411G>A (p.Glu137=) c.243G>A (p.Glu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490160G>C | CA381551025 | AIP | c.568G>C c.402G>C (p.Glu134Asp) n.1103G>C c.468+705G>C (n.468+705G>C) c.222G>C (p.Glu74Asp) c.591G>C (p.Glu197Asp) c.414G>C (p.Glu138Asp) c.411G>C (p.Glu137Asp) c.243G>C (p.Glu81Asp) | |
| 11 | g.67490160G= | CA1980172326 | AIP | c.568G= c.402G= (p.Glu134=) n.1103G= c.468+705G= (n.468+705G=) c.222G= (p.Glu74=) c.591G= (p.Glu197=) c.414G= (p.Glu138=) c.411G= (p.Glu137=) c.243G= (p.Glu81=) | |
| 11 | g.67490160G>T | CA381551023 | AIP | c.568G>T c.402G>T (p.Glu134Asp) n.1103G>T c.468+705G>T (n.468+705G>T) c.222G>T (p.Glu74Asp) c.591G>T (p.Glu197Asp) c.414G>T (p.Glu138Asp) c.411G>T (p.Glu137Asp) c.243G>T (p.Glu81Asp) | ClinVar dbSNP |
| 11 | g.67490161G>A | CA381551029 | AIP | c.569G>A c.403G>A (p.Ala135Thr) n.1104G>A c.468+706G>A (n.468+706G>A) c.223G>A (p.Ala75Thr) c.592G>A (p.Ala198Thr) c.415G>A (p.Ala139Thr) c.412G>A (p.Ala138Thr) c.244G>A (p.Ala82Thr) | gnomAD v4 |
| 11 | g.67490161G>C | CA381551032 | AIP | c.569G>C c.403G>C (p.Ala135Pro) n.1104G>C c.468+706G>C (n.468+706G>C) c.223G>C (p.Ala75Pro) c.592G>C (p.Ala198Pro) c.415G>C (p.Ala139Pro) c.412G>C (p.Ala138Pro) c.244G>C (p.Ala82Pro) | |
| 11 | g.67490161G>T | CA381551035 | AIP | c.569G>T c.403G>T (p.Ala135Ser) n.1104G>T c.468+706G>T (n.468+706G>T) c.223G>T (p.Ala75Ser) c.592G>T (p.Ala198Ser) c.415G>T (p.Ala139Ser) c.412G>T (p.Ala138Ser) c.244G>T (p.Ala82Ser) | |
| 11 | g.67490162C>A | CA381551040 | AIP | c.570C>A c.404C>A (p.Ala135Asp) n.1105C>A c.468+707C>A (n.468+707C>A) c.224C>A (p.Ala75Asp) c.593C>A (p.Ala198Asp) c.416C>A (p.Ala139Asp) c.413C>A (p.Ala138Asp) c.245C>A (p.Ala82Asp) | COSMIC |
| 11 | g.67490162C>G | CA381551042 | AIP | c.570C>G c.404C>G (p.Ala135Gly) n.1105C>G c.468+707C>G (n.468+707C>G) c.224C>G (p.Ala75Gly) c.593C>G (p.Ala198Gly) c.416C>G (p.Ala139Gly) c.413C>G (p.Ala138Gly) c.245C>G (p.Ala82Gly) | |
| 11 | g.67490162C>T | CA381551046 | AIP | c.570C>T c.404C>T (p.Ala135Val) n.1105C>T c.468+707C>T (n.468+707C>T) c.224C>T (p.Ala75Val) c.593C>T (p.Ala198Val) c.416C>T (p.Ala139Val) c.413C>T (p.Ala138Val) c.245C>T (p.Ala82Val) | |
| 11 | g.67490163T>A | CA475509240 | AIP | c.571T>A c.405T>A (p.Ala135=) n.1106T>A c.468+708T>A (n.468+708T>A) c.225T>A (p.Ala75=) c.594T>A (p.Ala198=) c.417T>A (p.Ala139=) c.414T>A (p.Ala138=) c.246T>A (p.Ala82=) | |
| 11 | g.67490163T>C | CA475509242 | AIP | c.571T>C c.405T>C (p.Ala135=) n.1106T>C c.468+708T>C (n.468+708T>C) c.225T>C (p.Ala75=) c.594T>C (p.Ala198=) c.417T>C (p.Ala139=) c.414T>C (p.Ala138=) c.246T>C (p.Ala82=) | |
| 11 | g.67490163T>G | CA475509243 | AIP | c.571T>G c.405T>G (p.Ala135=) n.1106T>G c.468+708T>G (n.468+708T>G) c.225T>G (p.Ala75=) c.594T>G (p.Ala198=) c.417T>G (p.Ala139=) c.414T>G (p.Ala138=) c.246T>G (p.Ala82=) | ClinVar |
| 11 | g.67490164G>A | CA381551053 | AIP | c.572G>A c.406G>A (p.Ala136Thr) n.1107G>A c.468+709G>A (n.468+709G>A) c.226G>A (p.Ala76Thr) c.595G>A (p.Ala199Thr) c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) c.247G>A (p.Ala83Thr) | |
| 11 | g.67490164G>C | CA381551054 | AIP | c.572G>C c.406G>C (p.Ala136Pro) n.1107G>C c.468+709G>C (n.468+709G>C) c.226G>C (p.Ala76Pro) c.595G>C (p.Ala199Pro) c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) c.247G>C (p.Ala83Pro) | ClinVar dbSNP |
| 11 | g.67490164G= | CA1980172327 | AIP | c.572G= c.406G= (p.Ala136=) n.1107G= c.468+709G= (n.468+709G=) c.226G= (p.Ala76=) c.595G= (p.Ala199=) c.418G= (p.Ala140=) c.415G= (p.Ala139=) c.247G= (p.Ala83=) | |
| 11 | g.67490164G>T | CA381551057 | AIP | c.572G>T c.406G>T (p.Ala136Ser) n.1107G>T c.468+709G>T (n.468+709G>T) c.226G>T (p.Ala76Ser) c.595G>T (p.Ala199Ser) c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) c.247G>T (p.Ala83Ser) | |
| 11 | g.67490165C>A | CA381551063 | AIP | c.573C>A c.407C>A (p.Ala136Asp) n.1108C>A c.468+710C>A (n.468+710C>A) c.227C>A (p.Ala76Asp) c.596C>A (p.Ala199Asp) c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) c.248C>A (p.Ala83Asp) | |
| 11 | g.67490165C>G | CA381551066 | AIP | c.573C>G c.407C>G (p.Ala136Gly) n.1108C>G c.468+710C>G (n.468+710C>G) c.227C>G (p.Ala76Gly) c.596C>G (p.Ala199Gly) c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) c.248C>G (p.Ala83Gly) | |
| 11 | g.67490165C>T | CA381551068 | AIP | c.573C>T c.407C>T (p.Ala136Val) n.1108C>T c.468+710C>T (n.468+710C>T) c.227C>T (p.Ala76Val) c.596C>T (p.Ala199Val) c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) c.248C>T (p.Ala83Val) | |
| 11 | g.67490166T>A | CA475509245 | AIP | c.574T>A c.408T>A (p.Ala136=) n.1109T>A c.468+711T>A (n.468+711T>A) c.228T>A (p.Ala76=) c.597T>A (p.Ala199=) c.420T>A (p.Ala140=) c.417T>A (p.Ala139=) c.249T>A (p.Ala83=) | |
| 11 | g.67490166T>C | CA475509246 | AIP | c.574T>C c.408T>C (p.Ala136=) n.1109T>C c.468+711T>C (n.468+711T>C) c.228T>C (p.Ala76=) c.597T>C (p.Ala199=) c.420T>C (p.Ala140=) c.417T>C (p.Ala139=) c.249T>C (p.Ala83=) | |
| 11 | g.67490166T>G | CA475509244 | AIP | c.574T>G c.408T>G (p.Ala136=) n.1109T>G c.468+711T>G (n.468+711T>G) c.228T>G (p.Ala76=) c.597T>G (p.Ala199=) c.420T>G (p.Ala140=) c.417T>G (p.Ala139=) c.249T>G (p.Ala83=) | |
| 11 | g.67490167G>A | CA381551088 | AIP | c.575G>A c.409G>A (p.Ala137Thr) n.1110G>A c.468+712G>A (n.468+712G>A) c.229G>A (p.Ala77Thr) c.598G>A (p.Ala200Thr) c.421G>A (p.Ala141Thr) c.418G>A (p.Ala140Thr) c.250G>A (p.Ala84Thr) | gnomAD v4 |
| 11 | g.67490167G>C | CA381551090 | AIP | c.575G>C c.409G>C (p.Ala137Pro) n.1110G>C c.468+712G>C (n.468+712G>C) c.229G>C (p.Ala77Pro) c.598G>C (p.Ala200Pro) c.421G>C (p.Ala141Pro) c.418G>C (p.Ala140Pro) c.250G>C (p.Ala84Pro) | |
| 11 | g.67490167G>T | CA381551082 | AIP | c.575G>T c.409G>T (p.Ala137Ser) n.1110G>T c.468+712G>T (n.468+712G>T) c.229G>T (p.Ala77Ser) c.598G>T (p.Ala200Ser) c.421G>T (p.Ala141Ser) c.418G>T (p.Ala140Ser) c.250G>T (p.Ala84Ser) | |
| 11 | g.67490168C>A | CA381551093 | AIP | c.576C>A c.410C>A (p.Ala137Asp) n.1111C>A c.468+713C>A (n.468+713C>A) c.230C>A (p.Ala77Asp) c.599C>A (p.Ala200Asp) c.422C>A (p.Ala141Asp) c.419C>A (p.Ala140Asp) c.251C>A (p.Ala84Asp) | |
| 11 | g.67490168C= | CA1980172328 | AIP | c.576C= c.410C= (p.Ala137=) n.1111C= c.468+713C= (n.468+713C=) c.230C= (p.Ala77=) c.599C= (p.Ala200=) c.422C= (p.Ala141=) c.419C= (p.Ala140=) c.251C= (p.Ala84=) | |
| 11 | g.67490168C>G | CA381551099 | AIP | c.576C>G c.410C>G (p.Ala137Gly) n.1111C>G c.468+713C>G (n.468+713C>G) c.230C>G (p.Ala77Gly) c.599C>G (p.Ala200Gly) c.422C>G (p.Ala141Gly) c.419C>G (p.Ala140Gly) c.251C>G (p.Ala84Gly) | |
| 11 | g.67490168C>T | CA381551096 | AIP | c.576C>T c.410C>T (p.Ala137Val) n.1111C>T c.468+713C>T (n.468+713C>T) c.230C>T (p.Ala77Val) c.599C>T (p.Ala200Val) c.422C>T (p.Ala141Val) c.419C>T (p.Ala140Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v2 |
| 11 | g.67490169del | CA2499221230 | AIP | c.577del c.411del (p.Lys138SerfsTer14) n.1112del c.468+714del (n.468+714del) c.231del (p.Lys78SerfsTer14) c.600del (p.Lys201SerfsTer14) c.423del (p.Lys142SerfsTer14) c.420del (p.Lys141SerfsTer14) c.252del (p.Lys85SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490169C>A | CA475509255 | AIP | c.577C>A c.411C>A (p.Ala137=) n.1112C>A c.468+714C>A (n.468+714C>A) c.231C>A (p.Ala77=) c.600C>A (p.Ala200=) c.423C>A (p.Ala141=) c.420C>A (p.Ala140=) c.252C>A (p.Ala84=) | |
| 11 | g.67490169C>G | CA475509254 | AIP | c.577C>G c.411C>G (p.Ala137=) n.1112C>G c.468+714C>G (n.468+714C>G) c.231C>G (p.Ala77=) c.600C>G (p.Ala200=) c.423C>G (p.Ala141=) c.420C>G (p.Ala140=) c.252C>G (p.Ala84=) |