Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490365_67490367dup | CA939069734 | AIP | c.672_674dup c.506_508dup (p.Pro169_Leu170insPro) n.1207_1209dup c.469-632_469-630dup (n.469-632_469-630dup) c.326_328dup (p.Pro109_Leu110insPro) c.695_697dup (p.Pro232_Leu233insPro) c.518_520dup (p.Pro173_Leu174insPro) c.515_517dup (p.Pro172_Leu173insPro) c.347_349dup (p.Pro116_Leu117insPro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490367C>A | CA381551660 | AIP | c.674C>A c.508C>A (p.Leu170Met) n.1209C>A c.469-630C>A (n.469-630C>A) c.328C>A (p.Leu110Met) c.697C>A (p.Leu233Met) c.520C>A (p.Leu174Met) c.517C>A (p.Leu173Met) c.349C>A (p.Leu117Met) | |
11 | g.67490367C= | CA1980172425 | AIP | c.674C= c.508C= (p.Leu170=) n.1209C= c.469-630C= (n.469-630C=) c.328C= (p.Leu110=) c.697C= (p.Leu233=) c.520C= (p.Leu174=) c.517C= (p.Leu173=) c.349C= (p.Leu117=) | |
11 | g.67490367C>G | CA381551662 | AIP | c.674C>G c.508C>G (p.Leu170Val) n.1209C>G c.469-630C>G (n.469-630C>G) c.328C>G (p.Leu110Val) c.697C>G (p.Leu233Val) c.520C>G (p.Leu174Val) c.517C>G (p.Leu173Val) c.349C>G (p.Leu117Val) | |
11 | g.67490367C>T | CA475509223 | AIP | c.674C>T c.508C>T (p.Leu170=) n.1209C>T c.469-630C>T (n.469-630C>T) c.328C>T (p.Leu110=) c.697C>T (p.Leu233=) c.520C>T (p.Leu174=) c.517C>T (p.Leu173=) c.349C>T (p.Leu117=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490368T>A | CA381551664 | AIP | c.675T>A c.509T>A (p.Leu170Gln) n.1210T>A c.469-629T>A (n.469-629T>A) c.329T>A (p.Leu110Gln) c.698T>A (p.Leu233Gln) c.521T>A (p.Leu174Gln) c.518T>A (p.Leu173Gln) c.350T>A (p.Leu117Gln) | ClinVar |
11 | g.67490368T>C | CA381551665 | AIP | c.675T>C c.509T>C (p.Leu170Pro) n.1210T>C c.469-629T>C (n.469-629T>C) c.329T>C (p.Leu110Pro) c.698T>C (p.Leu233Pro) c.521T>C (p.Leu174Pro) c.518T>C (p.Leu173Pro) c.350T>C (p.Leu117Pro) | ClinVar |
11 | g.67490368T>G | CA381551667 | AIP | c.675T>G c.509T>G (p.Leu170Arg) n.1210T>G c.469-629T>G (n.469-629T>G) c.329T>G (p.Leu110Arg) c.698T>G (p.Leu233Arg) c.521T>G (p.Leu174Arg) c.518T>G (p.Leu173Arg) c.350T>G (p.Leu117Arg) | |
11 | g.67490369G>A | CA475509225 | AIP | c.676G>A c.510G>A (p.Leu170=) n.1211G>A c.469-628G>A (n.469-628G>A) c.330G>A (p.Leu110=) c.699G>A (p.Leu233=) c.522G>A (p.Leu174=) c.519G>A (p.Leu173=) c.351G>A (p.Leu117=) | dbSNP gnomAD v2 |
11 | g.67490369G>C | CA475509226 | AIP | c.676G>C c.510G>C (p.Leu170=) n.1211G>C c.469-628G>C (n.469-628G>C) c.330G>C (p.Leu110=) c.699G>C (p.Leu233=) c.522G>C (p.Leu174=) c.519G>C (p.Leu173=) c.351G>C (p.Leu117=) | |
11 | g.67490369G= | CA1980172426 | AIP | c.676G= c.510G= (p.Leu170=) n.1211G= c.469-628G= (n.469-628G=) c.330G= (p.Leu110=) c.699G= (p.Leu233=) c.522G= (p.Leu174=) c.519G= (p.Leu173=) c.351G= (p.Leu117=) | |
11 | g.67490369G>T | CA475509227 | AIP | c.676G>T c.510G>T (p.Leu170=) n.1211G>T c.469-628G>T (n.469-628G>T) c.330G>T (p.Leu110=) c.699G>T (p.Leu233=) c.522G>T (p.Leu174=) c.519G>T (p.Leu173=) c.351G>T (p.Leu117=) | |
11 | g.67490370C>A | CA381551669 | AIP | c.677C>A c.511C>A (p.Leu171Met) n.1212C>A c.469-627C>A (n.469-627C>A) c.331C>A (p.Leu111Met) c.700C>A (p.Leu234Met) c.523C>A (p.Leu175Met) c.520C>A (p.Leu174Met) c.352C>A (p.Leu118Met) | dbSNP |
11 | g.67490370C= | CA1980172427 | AIP | c.677C= c.511C= (p.Leu171=) n.1212C= c.469-627C= (n.469-627C=) c.331C= (p.Leu111=) c.700C= (p.Leu234=) c.523C= (p.Leu175=) c.520C= (p.Leu174=) c.352C= (p.Leu118=) | |
11 | g.67490370C>G | CA381551671 | AIP | c.677C>G c.511C>G (p.Leu171Val) n.1212C>G c.469-627C>G (n.469-627C>G) c.331C>G (p.Leu111Val) c.700C>G (p.Leu234Val) c.523C>G (p.Leu175Val) c.520C>G (p.Leu174Val) c.352C>G (p.Leu118Val) | |
11 | g.67490370C>T | CA475509228 | AIP | c.677C>T c.511C>T (p.Leu171=) n.1212C>T c.469-627C>T (n.469-627C>T) c.331C>T (p.Leu111=) c.700C>T (p.Leu234=) c.523C>T (p.Leu175=) c.520C>T (p.Leu174=) c.352C>T (p.Leu118=) | |
11 | g.67490371T>A | CA381551673 | AIP | c.678T>A c.512T>A (p.Leu171Gln) n.1213T>A c.469-626T>A (n.469-626T>A) c.332T>A (p.Leu111Gln) c.701T>A (p.Leu234Gln) c.524T>A (p.Leu175Gln) c.521T>A (p.Leu174Gln) c.353T>A (p.Leu118Gln) | |
11 | g.67490371T>C | CA381551677 | AIP | c.678T>C c.512T>C (p.Leu171Pro) n.1213T>C c.469-626T>C (n.469-626T>C) c.332T>C (p.Leu111Pro) c.701T>C (p.Leu234Pro) c.524T>C (p.Leu175Pro) c.521T>C (p.Leu174Pro) c.353T>C (p.Leu118Pro) | |
11 | g.67490371T>G | CA381551675 | AIP | c.678T>G c.512T>G (p.Leu171Arg) n.1213T>G c.469-626T>G (n.469-626T>G) c.332T>G (p.Leu111Arg) c.701T>G (p.Leu234Arg) c.524T>G (p.Leu175Arg) c.521T>G (p.Leu174Arg) c.353T>G (p.Leu118Arg) | |
11 | g.67490372G>A | CA475509234 | AIP | c.679G>A c.513G>A (p.Leu171=) n.1214G>A c.469-625G>A (n.469-625G>A) c.333G>A (p.Leu111=) c.702G>A (p.Leu234=) c.525G>A (p.Leu175=) c.522G>A (p.Leu174=) c.354G>A (p.Leu118=) | |
11 | g.67490372G>C | CA475509232 | AIP | c.679G>C c.513G>C (p.Leu171=) n.1214G>C c.469-625G>C (n.469-625G>C) c.333G>C (p.Leu111=) c.702G>C (p.Leu234=) c.525G>C (p.Leu175=) c.522G>C (p.Leu174=) c.354G>C (p.Leu118=) | |
11 | g.67490372G>T | CA475509230 | AIP | c.679G>T c.513G>T (p.Leu171=) n.1214G>T c.469-625G>T (n.469-625G>T) c.333G>T (p.Leu111=) c.702G>T (p.Leu234=) c.525G>T (p.Leu175=) c.522G>T (p.Leu174=) c.354G>T (p.Leu118=) | |
11 | g.67490373C>A | CA6140915 | AIP | c.680C>A c.514C>A (p.Leu172Ile) n.1215C>A c.469-624C>A (n.469-624C>A) c.334C>A (p.Leu112Ile) c.703C>A (p.Leu235Ile) c.526C>A (p.Leu176Ile) c.523C>A (p.Leu175Ile) c.355C>A (p.Leu119Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490373C= | CA1980172428 | AIP | c.680C= c.514C= (p.Leu172=) n.1215C= c.469-624C= (n.469-624C=) c.334C= (p.Leu112=) c.703C= (p.Leu235=) c.526C= (p.Leu176=) c.523C= (p.Leu175=) c.355C= (p.Leu119=) | |
11 | g.67490373C>G | CA381551681 | AIP | c.680C>G c.514C>G (p.Leu172Val) n.1215C>G c.469-624C>G (n.469-624C>G) c.334C>G (p.Leu112Val) c.703C>G (p.Leu235Val) c.526C>G (p.Leu176Val) c.523C>G (p.Leu175Val) c.355C>G (p.Leu119Val) | |
11 | g.67490373C>T | CA224165268 | AIP | c.680C>T c.514C>T (p.Leu172Phe) n.1215C>T c.469-624C>T (n.469-624C>T) c.334C>T (p.Leu112Phe) c.703C>T (p.Leu235Phe) c.526C>T (p.Leu176Phe) c.523C>T (p.Leu175Phe) c.355C>T (p.Leu119Phe) | dbSNP COSMIC |
11 | g.67490374T>A | CA381551684 | AIP | c.681T>A c.515T>A (p.Leu172His) n.1216T>A c.469-623T>A (n.469-623T>A) c.335T>A (p.Leu112His) c.704T>A (p.Leu235His) c.527T>A (p.Leu176His) c.524T>A (p.Leu175His) c.356T>A (p.Leu119His) | |
11 | g.67490374T>C | CA381551686 | AIP | c.681T>C c.515T>C (p.Leu172Pro) n.1216T>C c.469-623T>C (n.469-623T>C) c.335T>C (p.Leu112Pro) c.704T>C (p.Leu235Pro) c.527T>C (p.Leu176Pro) c.524T>C (p.Leu175Pro) c.356T>C (p.Leu119Pro) | |
11 | g.67490374T>G | CA381551687 | AIP | c.681T>G c.515T>G (p.Leu172Arg) n.1216T>G c.469-623T>G (n.469-623T>G) c.335T>G (p.Leu112Arg) c.704T>G (p.Leu235Arg) c.527T>G (p.Leu176Arg) c.524T>G (p.Leu175Arg) c.356T>G (p.Leu119Arg) | |
11 | g.67490375C>A | CA475509235 | AIP | c.682C>A c.516C>A (p.Leu172=) n.1217C>A c.469-622C>A (n.469-622C>A) c.336C>A (p.Leu112=) c.705C>A (p.Leu235=) c.528C>A (p.Leu176=) c.525C>A (p.Leu175=) c.357C>A (p.Leu119=) | |
11 | g.67490375C= | CA1980172429 | AIP | c.682C= c.516C= (p.Leu172=) n.1217C= c.469-622C= (n.469-622C=) c.336C= (p.Leu112=) c.705C= (p.Leu235=) c.528C= (p.Leu176=) c.525C= (p.Leu175=) c.357C= (p.Leu119=) | |
11 | g.67490375C>G | CA475509236 | AIP | c.682C>G c.516C>G (p.Leu172=) n.1217C>G c.469-622C>G (n.469-622C>G) c.336C>G (p.Leu112=) c.705C>G (p.Leu235=) c.528C>G (p.Leu176=) c.525C>G (p.Leu175=) c.357C>G (p.Leu119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490375C>T | CA475509237 | AIP | c.682C>T c.516C>T (p.Leu172=) n.1217C>T c.469-622C>T (n.469-622C>T) c.336C>T (p.Leu112=) c.705C>T (p.Leu235=) c.528C>T (p.Leu176=) c.525C>T (p.Leu175=) c.357C>T (p.Leu119=) | ClinVar dbSNP |
11 | g.67490376A>C | CA381551690 | AIP | c.683A>C c.517A>C (p.Asn173His) n.1218A>C c.469-621A>C (n.469-621A>C) c.337A>C (p.Asn113His) c.706A>C (p.Asn236His) c.529A>C (p.Asn177His) c.526A>C (p.Asn176His) c.358A>C (p.Asn120His) | |
11 | g.67490376A>G | CA381551692 | AIP | c.683A>G c.517A>G (p.Asn173Asp) n.1218A>G c.469-621A>G (n.469-621A>G) c.337A>G (p.Asn113Asp) c.706A>G (p.Asn236Asp) c.529A>G (p.Asn177Asp) c.526A>G (p.Asn176Asp) c.358A>G (p.Asn120Asp) | |
11 | g.67490376A>T | CA381551694 | AIP | c.683A>T c.517A>T (p.Asn173Tyr) n.1218A>T c.469-621A>T (n.469-621A>T) c.337A>T (p.Asn113Tyr) c.706A>T (p.Asn236Tyr) c.529A>T (p.Asn177Tyr) c.526A>T (p.Asn176Tyr) c.358A>T (p.Asn120Tyr) | |
11 | g.67490377A= | CA1980172430 | AIP | c.684A= c.518A= (p.Asn173=) n.1219A= c.469-620A= (n.469-620A=) c.338A= (p.Asn113=) c.707A= (p.Asn236=) c.530A= (p.Asn177=) c.527A= (p.Asn176=) c.359A= (p.Asn120=) | |
11 | g.67490377A>C | CA381551697 | AIP | c.684A>C c.518A>C (p.Asn173Thr) n.1219A>C c.469-620A>C (n.469-620A>C) c.338A>C (p.Asn113Thr) c.707A>C (p.Asn236Thr) c.530A>C (p.Asn177Thr) c.527A>C (p.Asn176Thr) c.359A>C (p.Asn120Thr) | |
11 | g.67490377A>G | CA381551698 | AIP | c.684A>G c.518A>G (p.Asn173Ser) n.1219A>G c.469-620A>G (n.469-620A>G) c.338A>G (p.Asn113Ser) c.707A>G (p.Asn236Ser) c.530A>G (p.Asn177Ser) c.527A>G (p.Asn176Ser) c.359A>G (p.Asn120Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490377A>T | CA381551700 | AIP | c.684A>T c.518A>T (p.Asn173Ile) n.1219A>T c.469-620A>T (n.469-620A>T) c.338A>T (p.Asn113Ile) c.707A>T (p.Asn236Ile) c.530A>T (p.Asn177Ile) c.527A>T (p.Asn176Ile) c.359A>T (p.Asn120Ile) | |
11 | g.67490378C>A | CA381551701 | AIP | c.685C>A c.519C>A (p.Asn173Lys) n.1220C>A c.469-619C>A (n.469-619C>A) c.339C>A (p.Asn113Lys) c.708C>A (p.Asn236Lys) c.531C>A (p.Asn177Lys) c.528C>A (p.Asn176Lys) c.360C>A (p.Asn120Lys) | |
11 | g.67490378C= | CA1980172431 | AIP | c.685C= c.519C= (p.Asn173=) n.1220C= c.469-619C= (n.469-619C=) c.339C= (p.Asn113=) c.708C= (p.Asn236=) c.531C= (p.Asn177=) c.528C= (p.Asn176=) c.360C= (p.Asn120=) | |
11 | g.67490378C>G | CA381551703 | AIP | c.685C>G c.519C>G (p.Asn173Lys) n.1220C>G c.469-619C>G (n.469-619C>G) c.339C>G (p.Asn113Lys) c.708C>G (p.Asn236Lys) c.531C>G (p.Asn177Lys) c.528C>G (p.Asn176Lys) c.360C>G (p.Asn120Lys) | |
11 | g.67490378C>T | CA475509239 | AIP | c.685C>T c.519C>T (p.Asn173=) n.1220C>T c.469-619C>T (n.469-619C>T) c.339C>T (p.Asn113=) c.708C>T (p.Asn236=) c.531C>T (p.Asn177=) c.528C>T (p.Asn176=) c.360C>T (p.Asn120=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490379T>A | CA381551704 | AIP | c.686T>A c.520T>A (p.Tyr174Asn) n.1221T>A c.469-618T>A (n.469-618T>A) c.340T>A (p.Tyr114Asn) c.709T>A (p.Tyr237Asn) c.532T>A (p.Tyr178Asn) c.529T>A (p.Tyr177Asn) c.361T>A (p.Tyr121Asn) | |
11 | g.67490379T>C | CA381551705 | AIP | c.686T>C c.520T>C (p.Tyr174His) n.1221T>C c.469-618T>C (n.469-618T>C) c.340T>C (p.Tyr114His) c.709T>C (p.Tyr237His) c.532T>C (p.Tyr178His) c.529T>C (p.Tyr177His) c.361T>C (p.Tyr121His) | |
11 | g.67490379T>G | CA381551707 | AIP | c.686T>G c.520T>G (p.Tyr174Asp) n.1221T>G c.469-618T>G (n.469-618T>G) c.340T>G (p.Tyr114Asp) c.709T>G (p.Tyr237Asp) c.532T>G (p.Tyr178Asp) c.529T>G (p.Tyr177Asp) c.361T>G (p.Tyr121Asp) | |
11 | g.67490380A= | CA1980172432 | AIP | c.687A= c.521A= (p.Tyr174=) n.1222A= c.469-617A= (n.469-617A=) c.341A= (p.Tyr114=) c.710A= (p.Tyr237=) c.533A= (p.Tyr178=) c.530A= (p.Tyr177=) c.362A= (p.Tyr121=) | |
11 | g.67490380A>C | CA381551710 | AIP | c.687A>C c.521A>C (p.Tyr174Ser) n.1222A>C c.469-617A>C (n.469-617A>C) c.341A>C (p.Tyr114Ser) c.710A>C (p.Tyr237Ser) c.533A>C (p.Tyr178Ser) c.530A>C (p.Tyr177Ser) c.362A>C (p.Tyr121Ser) | |
11 | g.67490380A>G | CA381551712 | AIP | c.687A>G c.521A>G (p.Tyr174Cys) n.1222A>G c.469-617A>G (n.469-617A>G) c.341A>G (p.Tyr114Cys) c.710A>G (p.Tyr237Cys) c.533A>G (p.Tyr178Cys) c.530A>G (p.Tyr177Cys) c.362A>G (p.Tyr121Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.67490380A>T | CA381551713 | AIP | c.687A>T c.521A>T (p.Tyr174Phe) n.1222A>T c.469-617A>T (n.469-617A>T) c.341A>T (p.Tyr114Phe) c.710A>T (p.Tyr237Phe) c.533A>T (p.Tyr178Phe) c.530A>T (p.Tyr177Phe) c.362A>T (p.Tyr121Phe) | COSMIC |
11 | g.67490381C>A | CA381551716 | AIP | c.688C>A c.522C>A (p.Tyr174Ter) n.1223C>A c.469-616C>A (n.469-616C>A) c.342C>A (p.Tyr114Ter) c.711C>A (p.Tyr237Ter) c.534C>A (p.Tyr178Ter) c.531C>A (p.Tyr177Ter) c.363C>A (p.Tyr121Ter) | |
11 | g.67490381C= | CA1980172433 | AIP | c.688C= c.522C= (p.Tyr174=) n.1223C= c.469-616C= (n.469-616C=) c.342C= (p.Tyr114=) c.711C= (p.Tyr237=) c.534C= (p.Tyr178=) c.531C= (p.Tyr177=) c.363C= (p.Tyr121=) | |
11 | g.67490381C>G | CA381551717 | AIP | c.688C>G c.522C>G (p.Tyr174Ter) n.1223C>G c.469-616C>G (n.469-616C>G) c.342C>G (p.Tyr114Ter) c.711C>G (p.Tyr237Ter) c.534C>G (p.Tyr178Ter) c.531C>G (p.Tyr177Ter) c.363C>G (p.Tyr121Ter) | |
11 | g.67490381C>T | CA6140916 | AIP | c.688C>T c.522C>T (p.Tyr174=) n.1223C>T c.469-616C>T (n.469-616C>T) c.342C>T (p.Tyr114=) c.711C>T (p.Tyr237=) c.534C>T (p.Tyr178=) c.531C>T (p.Tyr177=) c.363C>T (p.Tyr121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490382T>A | CA381551719 | AIP | c.689T>A c.523T>A (p.Cys175Ser) n.1224T>A c.469-615T>A (n.469-615T>A) c.343T>A (p.Cys115Ser) c.712T>A (p.Cys238Ser) c.535T>A (p.Cys179Ser) c.532T>A (p.Cys178Ser) c.364T>A (p.Cys122Ser) | |
11 | g.67490382T>C | CA224165278 | AIP | c.689T>C c.523T>C (p.Cys175Arg) n.1224T>C c.469-615T>C (n.469-615T>C) c.343T>C (p.Cys115Arg) c.712T>C (p.Cys238Arg) c.535T>C (p.Cys179Arg) c.532T>C (p.Cys178Arg) c.364T>C (p.Cys122Arg) | dbSNP |
11 | g.67490382T>G | CA381551721 | AIP | c.689T>G c.523T>G (p.Cys175Gly) n.1224T>G c.469-615T>G (n.469-615T>G) c.343T>G (p.Cys115Gly) c.712T>G (p.Cys238Gly) c.535T>G (p.Cys179Gly) c.532T>G (p.Cys178Gly) c.364T>G (p.Cys122Gly) | |
11 | g.67490382T= | CA1980172434 | AIP | c.689T= c.523T= (p.Cys175=) n.1224T= c.469-615T= (n.469-615T=) c.343T= (p.Cys115=) c.712T= (p.Cys238=) c.535T= (p.Cys179=) c.532T= (p.Cys178=) c.364T= (p.Cys122=) | |
11 | g.67490383G>A | CA344155 | AIP | c.690G>A c.524G>A (p.Cys175Tyr) n.1225G>A c.469-614G>A (n.469-614G>A) c.344G>A (p.Cys115Tyr) c.713G>A (p.Cys238Tyr) c.536G>A (p.Cys179Tyr) c.533G>A (p.Cys178Tyr) c.365G>A (p.Cys122Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490383G>C | CA381551727 | AIP | c.690G>C c.524G>C (p.Cys175Ser) n.1225G>C c.469-614G>C (n.469-614G>C) c.344G>C (p.Cys115Ser) c.713G>C (p.Cys238Ser) c.536G>C (p.Cys179Ser) c.533G>C (p.Cys178Ser) c.365G>C (p.Cys122Ser) | |
11 | g.67490383G= | CA1980172435 | AIP | c.690G= c.524G= (p.Cys175=) n.1225G= c.469-614G= (n.469-614G=) c.344G= (p.Cys115=) c.713G= (p.Cys238=) c.536G= (p.Cys179=) c.533G= (p.Cys178=) c.365G= (p.Cys122=) | |
11 | g.67490383G>T | CA381551725 | AIP | c.690G>T c.524G>T (p.Cys175Phe) n.1225G>T c.469-614G>T (n.469-614G>T) c.344G>T (p.Cys115Phe) c.713G>T (p.Cys238Phe) c.536G>T (p.Cys179Phe) c.533G>T (p.Cys178Phe) c.365G>T (p.Cys122Phe) | gnomAD v4 |
11 | g.67490384C>A | CA381551729 | AIP | c.691C>A c.525C>A (p.Cys175Ter) n.1226C>A c.469-613C>A (n.469-613C>A) c.345C>A (p.Cys115Ter) c.714C>A (p.Cys238Ter) c.537C>A (p.Cys179Ter) c.534C>A (p.Cys178Ter) c.366C>A (p.Cys122Ter) | dbSNP |
11 | g.67490384C= | CA1980172436 | AIP | c.691C= c.525C= (p.Cys175=) n.1226C= c.469-613C= (n.469-613C=) c.345C= (p.Cys115=) c.714C= (p.Cys238=) c.537C= (p.Cys179=) c.534C= (p.Cys178=) c.366C= (p.Cys122=) | |
11 | g.67490384C>G | CA381551730 | AIP | c.691C>G c.525C>G (p.Cys175Trp) n.1226C>G c.469-613C>G (n.469-613C>G) c.345C>G (p.Cys115Trp) c.714C>G (p.Cys238Trp) c.537C>G (p.Cys179Trp) c.534C>G (p.Cys178Trp) c.366C>G (p.Cys122Trp) | |
11 | g.67490384C>T | CA344159 | AIP | c.691C>T c.525C>T (p.Cys175=) n.1226C>T c.469-613C>T (n.469-613C>T) c.345C>T (p.Cys115=) c.714C>T (p.Cys238=) c.537C>T (p.Cys179=) c.534C>T (p.Cys178=) c.366C>T (p.Cys122=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490385del | CA2838898017 | AIP | c.692del c.526del (p.Gln176SerfsTer?) n.1227del c.469-612del (n.469-612del) c.346del (p.Gln116SerfsTer?) c.715del (p.Gln239SerfsTer?) c.538del (p.Gln180SerfsTer?) c.535del (p.Gln179SerfsTer?) c.367del (p.Gln123SerfsTer?) | |
11 | g.67490385C>A | CA381551732 | AIP | c.692C>A c.526C>A (p.Gln176Lys) n.1227C>A c.469-612C>A (n.469-612C>A) c.346C>A (p.Gln116Lys) c.715C>A (p.Gln239Lys) c.538C>A (p.Gln180Lys) c.535C>A (p.Gln179Lys) c.367C>A (p.Gln123Lys) | |
11 | g.67490385C= | CA1980172437 | AIP | c.692C= c.526C= (p.Gln176=) n.1227C= c.469-612C= (n.469-612C=) c.346C= (p.Gln116=) c.715C= (p.Gln239=) c.538C= (p.Gln180=) c.535C= (p.Gln179=) c.367C= (p.Gln123=) | |
11 | g.67490385C>G | CA381551733 | AIP | c.692C>G c.526C>G (p.Gln176Glu) n.1227C>G c.469-612C>G (n.469-612C>G) c.346C>G (p.Gln116Glu) c.715C>G (p.Gln239Glu) c.538C>G (p.Gln180Glu) c.535C>G (p.Gln179Glu) c.367C>G (p.Gln123Glu) | |
11 | g.67490385C>T | CA344163 | AIP | c.692C>T c.526C>T (p.Gln176Ter) n.1227C>T c.469-612C>T (n.469-612C>T) c.346C>T (p.Gln116Ter) c.715C>T (p.Gln239Ter) c.538C>T (p.Gln180Ter) c.535C>T (p.Gln179Ter) c.367C>T (p.Gln123Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.67490386A= | CA1980172438 | AIP | c.693A= c.527A= (p.Gln176=) n.1228A= c.469-611A= (n.469-611A=) c.347A= (p.Gln116=) c.716A= (p.Gln239=) c.539A= (p.Gln180=) c.536A= (p.Gln179=) c.368A= (p.Gln123=) | |
11 | g.67490386A>C | CA381551739 | AIP | c.693A>C c.527A>C (p.Gln176Pro) n.1228A>C c.469-611A>C (n.469-611A>C) c.347A>C (p.Gln116Pro) c.716A>C (p.Gln239Pro) c.539A>C (p.Gln180Pro) c.536A>C (p.Gln179Pro) c.368A>C (p.Gln123Pro) | |
11 | g.67490386A>G | CA6140917 | AIP | c.693A>G c.527A>G (p.Gln176Arg) n.1228A>G c.469-611A>G (n.469-611A>G) c.347A>G (p.Gln116Arg) c.716A>G (p.Gln239Arg) c.539A>G (p.Gln180Arg) c.536A>G (p.Gln179Arg) c.368A>G (p.Gln123Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490386A>T | CA381551737 | AIP | c.693A>T c.527A>T (p.Gln176Leu) n.1228A>T c.469-611A>T (n.469-611A>T) c.347A>T (p.Gln116Leu) c.716A>T (p.Gln239Leu) c.539A>T (p.Gln180Leu) c.536A>T (p.Gln179Leu) c.368A>T (p.Gln123Leu) | |
11 | g.67490386dup | CA2838898005 | AIP | c.693dup c.527dup (p.Cys177ValfsTer?) n.1228dup c.469-611dup (n.469-611dup) c.347dup (p.Cys117ValfsTer?) c.716dup (p.Cys240ValfsTer?) c.539dup (p.Cys181ValfsTer?) c.536dup (p.Cys180ValfsTer?) c.368dup (p.Cys124ValfsTer25) | |
11 | g.67490387G>A | CA475509241 | AIP | c.694G>A c.528G>A (p.Gln176=) n.1229G>A c.469-610G>A (n.469-610G>A) c.348G>A (p.Gln116=) c.717G>A (p.Gln239=) c.540G>A (p.Gln180=) c.537G>A (p.Gln179=) c.369G>A (p.Gln123=) | ClinVar |
11 | g.67490387G>C | CA381551741 | AIP | c.694G>C c.528G>C (p.Gln176His) n.1229G>C c.469-610G>C (n.469-610G>C) c.348G>C (p.Gln116His) c.717G>C (p.Gln239His) c.540G>C (p.Gln180His) c.537G>C (p.Gln179His) c.369G>C (p.Gln123His) | |
11 | g.67490387G>T | CA381551743 | AIP | c.694G>T c.528G>T (p.Gln176His) n.1229G>T c.469-610G>T (n.469-610G>T) c.348G>T (p.Gln116His) c.717G>T (p.Gln239His) c.540G>T (p.Gln180His) c.537G>T (p.Gln179His) c.369G>T (p.Gln123His) | gnomAD v4 |
11 | g.67490388T>A | CA381551745 | AIP | c.695T>A c.529T>A (p.Cys177Ser) n.1230T>A c.469-609T>A (n.469-609T>A) c.349T>A (p.Cys117Ser) c.718T>A (p.Cys240Ser) c.541T>A (p.Cys181Ser) c.538T>A (p.Cys180Ser) c.370T>A (p.Cys124Ser) | |
11 | g.67490388T>C | CA381551747 | AIP | c.695T>C c.529T>C (p.Cys177Arg) n.1230T>C c.469-609T>C (n.469-609T>C) c.349T>C (p.Cys117Arg) c.718T>C (p.Cys240Arg) c.541T>C (p.Cys181Arg) c.538T>C (p.Cys180Arg) c.370T>C (p.Cys124Arg) | ClinVar gnomAD v4 |
11 | g.67490388T>G | CA381551748 | AIP | c.695T>G c.529T>G (p.Cys177Gly) n.1230T>G c.469-609T>G (n.469-609T>G) c.349T>G (p.Cys117Gly) c.718T>G (p.Cys240Gly) c.541T>G (p.Cys181Gly) c.538T>G (p.Cys180Gly) c.370T>G (p.Cys124Gly) | |
11 | g.67490389G>A | CA381551754 | AIP | c.696G>A c.530G>A (p.Cys177Tyr) n.1231G>A c.469-608G>A (n.469-608G>A) c.350G>A (p.Cys117Tyr) c.719G>A (p.Cys240Tyr) c.542G>A (p.Cys181Tyr) c.539G>A (p.Cys180Tyr) c.371G>A (p.Cys124Tyr) | ClinVar dbSNP |
11 | g.67490389G>C | CA381551750 | AIP | c.696G>C c.530G>C (p.Cys177Ser) n.1231G>C c.469-608G>C (n.469-608G>C) c.350G>C (p.Cys117Ser) c.719G>C (p.Cys240Ser) c.542G>C (p.Cys181Ser) c.539G>C (p.Cys180Ser) c.371G>C (p.Cys124Ser) | ClinVar |
11 | g.67490389G>T | CA381551752 | AIP | c.696G>T c.530G>T (p.Cys177Phe) n.1231G>T c.469-608G>T (n.469-608G>T) c.350G>T (p.Cys117Phe) c.719G>T (p.Cys240Phe) c.542G>T (p.Cys181Phe) c.539G>T (p.Cys180Phe) c.371G>T (p.Cys124Phe) | gnomAD v4 |
11 | g.67490390C>A | CA381551755 | AIP | c.697C>A c.531C>A (p.Cys177Ter) n.1232C>A c.469-607C>A (n.469-607C>A) c.351C>A (p.Cys117Ter) c.720C>A (p.Cys240Ter) c.543C>A (p.Cys181Ter) c.540C>A (p.Cys180Ter) c.372C>A (p.Cys124Ter) | |
11 | g.67490390C= | CA1980172439 | AIP | c.697C= c.531C= (p.Cys177=) n.1232C= c.469-607C= (n.469-607C=) c.351C= (p.Cys117=) c.720C= (p.Cys240=) c.543C= (p.Cys181=) c.540C= (p.Cys180=) c.372C= (p.Cys124=) | |
11 | g.67490390C>G | CA381551757 | AIP | c.697C>G c.531C>G (p.Cys177Trp) n.1232C>G c.469-607C>G (n.469-607C>G) c.351C>G (p.Cys117Trp) c.720C>G (p.Cys240Trp) c.543C>G (p.Cys181Trp) c.540C>G (p.Cys180Trp) c.372C>G (p.Cys124Trp) | ClinVar |
11 | g.67490390C>T | CA224165299 | AIP | c.697C>T c.531C>T (p.Cys177=) n.1232C>T c.469-607C>T (n.469-607C>T) c.351C>T (p.Cys117=) c.720C>T (p.Cys240=) c.543C>T (p.Cys181=) c.540C>T (p.Cys180=) c.372C>T (p.Cys124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490391A= | CA1980172440 | AIP | c.698A= c.532A= (p.Lys178=) n.1233A= c.469-606A= (n.469-606A=) c.352A= (p.Lys118=) c.721A= (p.Lys241=) c.544A= (p.Lys182=) c.541A= (p.Lys181=) c.373A= (p.Lys125=) | |
11 | g.67490391A>C | CA381551761 | AIP | c.698A>C c.532A>C (p.Lys178Gln) n.1233A>C c.469-606A>C (n.469-606A>C) c.352A>C (p.Lys118Gln) c.721A>C (p.Lys241Gln) c.544A>C (p.Lys182Gln) c.541A>C (p.Lys181Gln) c.373A>C (p.Lys125Gln) | |
11 | g.67490391A>G | CA344167 | AIP | c.698A>G c.532A>G (p.Lys178Glu) n.1233A>G c.469-606A>G (n.469-606A>G) c.352A>G (p.Lys118Glu) c.721A>G (p.Lys241Glu) c.544A>G (p.Lys182Glu) c.541A>G (p.Lys181Glu) c.373A>G (p.Lys125Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490391A>T | CA344171 | AIP | c.698A>T c.532A>T (p.Lys178Ter) n.1233A>T c.469-606A>T (n.469-606A>T) c.352A>T (p.Lys118Ter) c.721A>T (p.Lys241Ter) c.544A>T (p.Lys182Ter) c.541A>T (p.Lys181Ter) c.373A>T (p.Lys125Ter) | ClinVar dbSNP |
11 | g.67490392A>C | CA381551762 | AIP | c.699A>C c.533A>C (p.Lys178Thr) n.1234A>C c.469-605A>C (n.469-605A>C) c.353A>C (p.Lys118Thr) c.722A>C (p.Lys241Thr) c.545A>C (p.Lys182Thr) c.542A>C (p.Lys181Thr) c.374A>C (p.Lys125Thr) | |
11 | g.67490392A>G | CA381551764 | AIP | c.699A>G c.533A>G (p.Lys178Arg) n.1234A>G c.469-605A>G (n.469-605A>G) c.353A>G (p.Lys118Arg) c.722A>G (p.Lys241Arg) c.545A>G (p.Lys182Arg) c.542A>G (p.Lys181Arg) c.374A>G (p.Lys125Arg) | |
11 | g.67490392A>T | CA381551765 | AIP | c.699A>T c.533A>T (p.Lys178Met) n.1234A>T c.469-605A>T (n.469-605A>T) c.353A>T (p.Lys118Met) c.722A>T (p.Lys241Met) c.545A>T (p.Lys182Met) c.542A>T (p.Lys181Met) c.374A>T (p.Lys125Met) | |
11 | g.67490393G>A | CA475509247 | AIP | c.700G>A c.534G>A (p.Lys178=) n.1235G>A c.469-604G>A (n.469-604G>A) c.354G>A (p.Lys118=) c.723G>A (p.Lys241=) c.546G>A (p.Lys182=) c.543G>A (p.Lys181=) c.375G>A (p.Lys125=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490393G>C | CA381551767 | AIP | c.700G>C c.534G>C (p.Lys178Asn) n.1235G>C c.469-604G>C (n.469-604G>C) c.354G>C (p.Lys118Asn) c.723G>C (p.Lys241Asn) c.546G>C (p.Lys182Asn) c.543G>C (p.Lys181Asn) c.375G>C (p.Lys125Asn) | |
11 | g.67490393G= | CA1980172441 | AIP | c.700G= c.534G= (p.Lys178=) n.1235G= c.469-604G= (n.469-604G=) c.354G= (p.Lys118=) c.723G= (p.Lys241=) c.546G= (p.Lys182=) c.543G= (p.Lys181=) c.375G= (p.Lys125=) | |
11 | g.67490393G>T | CA381551769 | AIP | c.700G>T c.534G>T (p.Lys178Asn) n.1235G>T c.469-604G>T (n.469-604G>T) c.354G>T (p.Lys118Asn) c.723G>T (p.Lys241Asn) c.546G>T (p.Lys182Asn) c.543G>T (p.Lys181Asn) c.375G>T (p.Lys125Asn) | |
11 | g.67490394C>A | CA381551771 | AIP | c.701C>A c.535C>A (p.Leu179Met) n.1236C>A c.469-603C>A (n.469-603C>A) c.355C>A (p.Leu119Met) c.724C>A (p.Leu242Met) c.547C>A (p.Leu183Met) c.544C>A (p.Leu182Met) c.376C>A (p.Leu126Met) | |
11 | g.67490394C= | CA1980172442 | AIP | c.701C= c.535C= (p.Leu179=) n.1236C= c.469-603C= (n.469-603C=) c.355C= (p.Leu119=) c.724C= (p.Leu242=) c.547C= (p.Leu183=) c.544C= (p.Leu182=) c.376C= (p.Leu126=) | |
11 | g.67490394C>G | CA6140918 | AIP | c.701C>G c.535C>G (p.Leu179Val) n.1236C>G c.469-603C>G (n.469-603C>G) c.355C>G (p.Leu119Val) c.724C>G (p.Leu242Val) c.547C>G (p.Leu183Val) c.544C>G (p.Leu182Val) c.376C>G (p.Leu126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490394C>T | CA475509248 | AIP | c.701C>T c.535C>T (p.Leu179=) n.1236C>T c.469-603C>T (n.469-603C>T) c.355C>T (p.Leu119=) c.724C>T (p.Leu242=) c.547C>T (p.Leu183=) c.544C>T (p.Leu182=) c.376C>T (p.Leu126=) | |
11 | g.67490395T>A | CA381551775 | AIP | c.702T>A c.536T>A (p.Leu179Gln) n.1237T>A c.469-602T>A (n.469-602T>A) c.356T>A (p.Leu119Gln) c.725T>A (p.Leu242Gln) c.548T>A (p.Leu183Gln) c.545T>A (p.Leu182Gln) c.377T>A (p.Leu126Gln) | |
11 | g.67490395T>C | CA381551777 | AIP | c.702T>C c.536T>C (p.Leu179Pro) n.1237T>C c.469-602T>C (n.469-602T>C) c.356T>C (p.Leu119Pro) c.725T>C (p.Leu242Pro) c.548T>C (p.Leu183Pro) c.545T>C (p.Leu182Pro) c.377T>C (p.Leu126Pro) | |
11 | g.67490395T>G | CA381551776 | AIP | c.702T>G c.536T>G (p.Leu179Arg) n.1237T>G c.469-602T>G (n.469-602T>G) c.356T>G (p.Leu119Arg) c.725T>G (p.Leu242Arg) c.548T>G (p.Leu183Arg) c.545T>G (p.Leu182Arg) c.377T>G (p.Leu126Arg) | |
11 | g.67490396G>A | CA475509250 | AIP | c.703G>A c.537G>A (p.Leu179=) n.1238G>A c.469-601G>A (n.469-601G>A) c.357G>A (p.Leu119=) c.726G>A (p.Leu242=) c.549G>A (p.Leu183=) c.546G>A (p.Leu182=) c.378G>A (p.Leu126=) | ClinVar dbSNP |
11 | g.67490396G>C | CA475509251 | AIP | c.703G>C c.537G>C (p.Leu179=) n.1238G>C c.469-601G>C (n.469-601G>C) c.357G>C (p.Leu119=) c.726G>C (p.Leu242=) c.549G>C (p.Leu183=) c.546G>C (p.Leu182=) c.378G>C (p.Leu126=) | ClinVar dbSNP |
11 | g.67490396G>T | CA475509252 | AIP | c.703G>T c.537G>T (p.Leu179=) n.1238G>T c.469-601G>T (n.469-601G>T) c.357G>T (p.Leu119=) c.726G>T (p.Leu242=) c.549G>T (p.Leu183=) c.546G>T (p.Leu182=) c.378G>T (p.Leu126=) | |
11 | g.67490396_67490397delinsAA | CA2580084756 | AIP | c.703_704delinsAA c.537_538delinsAA (p.Val180Met) n.1238_1239delinsAA c.469-601_469-600delinsAA (n.469-601_469-600delinsAA) c.357_358delinsAA (p.Val120Met) c.726_727delinsAA (p.Val243Met) c.549_550delinsAA (p.Val184Met) c.546_547delinsAA (p.Val183Met) c.378_379delinsAA (p.Val127Met) | ClinVar |
11 | g.67490396_67490397insCA | CA2567039373 | AIP | c.703_704insCA c.537_538insCA (p.Val180GlnfsTer?) n.1238_1239insCA c.469-601_469-600insCA (n.469-601_469-600insCA) c.357_358insCA (p.Val120GlnfsTer?) c.726_727insCA (p.Val243GlnfsTer?) c.549_550insCA (p.Val184GlnfsTer?) c.546_547insCA (p.Val183GlnfsTer?) c.378_379insCA (p.Val127GlnfsTer?) | |
11 | g.67490397G>A | CA381551780 | AIP | c.704G>A c.538G>A (p.Val180Met) n.1239G>A c.469-600G>A (n.469-600G>A) c.358G>A (p.Val120Met) c.727G>A (p.Val243Met) c.550G>A (p.Val184Met) c.547G>A (p.Val183Met) c.379G>A (p.Val127Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490397G>C | CA381551782 | AIP | c.704G>C c.538G>C (p.Val180Leu) n.1239G>C c.469-600G>C (n.469-600G>C) c.358G>C (p.Val120Leu) c.727G>C (p.Val243Leu) c.550G>C (p.Val184Leu) c.547G>C (p.Val183Leu) c.379G>C (p.Val127Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.67490397G= | CA1980172443 | AIP | c.704G= c.538G= (p.Val180=) n.1239G= c.469-600G= (n.469-600G=) c.358G= (p.Val120=) c.727G= (p.Val243=) c.550G= (p.Val184=) c.547G= (p.Val183=) c.379G= (p.Val127=) | |
11 | g.67490397G>T | CA381551783 | AIP | c.704G>T c.538G>T (p.Val180Leu) n.1239G>T c.469-600G>T (n.469-600G>T) c.358G>T (p.Val120Leu) c.727G>T (p.Val243Leu) c.550G>T (p.Val184Leu) c.547G>T (p.Val183Leu) c.379G>T (p.Val127Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490398T>A | CA381551784 | AIP | c.705T>A c.539T>A (p.Val180Glu) n.1240T>A c.469-599T>A (n.469-599T>A) c.359T>A (p.Val120Glu) c.728T>A (p.Val243Glu) c.551T>A (p.Val184Glu) c.548T>A (p.Val183Glu) c.380T>A (p.Val127Glu) | |
11 | g.67490398T>C | CA6140919 | AIP | c.705T>C c.539T>C (p.Val180Ala) n.1240T>C c.469-599T>C (n.469-599T>C) c.359T>C (p.Val120Ala) c.728T>C (p.Val243Ala) c.551T>C (p.Val184Ala) c.548T>C (p.Val183Ala) c.380T>C (p.Val127Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490398T>G | CA381551787 | AIP | c.705T>G c.539T>G (p.Val180Gly) n.1240T>G c.469-599T>G (n.469-599T>G) c.359T>G (p.Val120Gly) c.728T>G (p.Val243Gly) c.551T>G (p.Val184Gly) c.548T>G (p.Val183Gly) c.380T>G (p.Val127Gly) | |
11 | g.67490398T= | CA1980172444 | AIP | c.705T= c.539T= (p.Val180=) n.1240T= c.469-599T= (n.469-599T=) c.359T= (p.Val120=) c.728T= (p.Val243=) c.551T= (p.Val184=) c.548T= (p.Val183=) c.380T= (p.Val127=) | |
11 | g.67490399G>A | CA475509256 | AIP | c.706G>A c.540G>A (p.Val180=) n.1241G>A c.469-598G>A (n.469-598G>A) c.360G>A (p.Val120=) c.729G>A (p.Val243=) c.552G>A (p.Val184=) c.549G>A (p.Val183=) c.381G>A (p.Val127=) | |
11 | g.67490399G>C | CA475509257 | AIP | c.706G>C c.540G>C (p.Val180=) n.1241G>C c.469-598G>C (n.469-598G>C) c.360G>C (p.Val120=) c.729G>C (p.Val243=) c.552G>C (p.Val184=) c.549G>C (p.Val183=) c.381G>C (p.Val127=) | |
11 | g.67490399G>T | CA475509258 | AIP | c.706G>T c.540G>T (p.Val180=) n.1241G>T c.469-598G>T (n.469-598G>T) c.360G>T (p.Val120=) c.729G>T (p.Val243=) c.552G>T (p.Val184=) c.549G>T (p.Val183=) c.381G>T (p.Val127=) | gnomAD v4 |
11 | g.67490400G>A | CA381551789 | AIP | c.707G>A c.541G>A (p.Val181Ile) n.1242G>A c.469-597G>A (n.469-597G>A) c.361G>A (p.Val121Ile) c.730G>A (p.Val244Ile) c.553G>A (p.Val185Ile) c.550G>A (p.Val184Ile) c.382G>A (p.Val128Ile) | |
11 | g.67490400G>C | CA381551791 | AIP | c.707G>C c.541G>C (p.Val181Leu) n.1242G>C c.469-597G>C (n.469-597G>C) c.361G>C (p.Val121Leu) c.730G>C (p.Val244Leu) c.553G>C (p.Val185Leu) c.550G>C (p.Val184Leu) c.382G>C (p.Val128Leu) | |
11 | g.67490400G>T | CA381551793 | AIP | c.707G>T c.541G>T (p.Val181Phe) n.1242G>T c.469-597G>T (n.469-597G>T) c.361G>T (p.Val121Phe) c.730G>T (p.Val244Phe) c.553G>T (p.Val185Phe) c.550G>T (p.Val184Phe) c.382G>T (p.Val128Phe) | |
11 | g.67490400_67490401del | CA2524014120 | AIP | c.707_708del c.541_542del (p.Val181ArgfsTer?) n.1242_1243del c.469-597_469-596del (n.469-597_469-596del) c.361_362del (p.Val121ArgfsTer?) c.730_731del (p.Val244ArgfsTer?) c.553_554del (p.Val185ArgfsTer?) c.550_551del (p.Val184ArgfsTer?) c.382_383del (p.Val128ArgfsTer20) | |
11 | g.67490401T>A | CA381551795 | AIP | c.708T>A c.542T>A (p.Val181Asp) n.1243T>A c.469-596T>A (n.469-596T>A) c.362T>A (p.Val121Asp) c.731T>A (p.Val244Asp) c.554T>A (p.Val185Asp) c.551T>A (p.Val184Asp) c.383T>A (p.Val128Asp) | gnomAD v4 |
11 | g.67490401T>C | CA381551797 | AIP | c.708T>C c.542T>C (p.Val181Ala) n.1243T>C c.469-596T>C (n.469-596T>C) c.362T>C (p.Val121Ala) c.731T>C (p.Val244Ala) c.554T>C (p.Val185Ala) c.551T>C (p.Val184Ala) c.383T>C (p.Val128Ala) | |
11 | g.67490401T>G | CA381551799 | AIP | c.708T>G c.542T>G (p.Val181Gly) n.1243T>G c.469-596T>G (n.469-596T>G) c.362T>G (p.Val121Gly) c.731T>G (p.Val244Gly) c.554T>G (p.Val185Gly) c.551T>G (p.Val184Gly) c.383T>G (p.Val128Gly) | |
11 | g.67490402C>A | CA475509263 | AIP | c.709C>A c.543C>A (p.Val181=) n.1244C>A c.469-595C>A (n.469-595C>A) c.363C>A (p.Val121=) c.732C>A (p.Val244=) c.555C>A (p.Val185=) c.552C>A (p.Val184=) c.384C>A (p.Val128=) | gnomAD v4 COSMIC |
11 | g.67490402C= | CA1980172445 | AIP | c.709C= c.543C= (p.Val181=) n.1244C= c.469-595C= (n.469-595C=) c.363C= (p.Val121=) c.732C= (p.Val244=) c.555C= (p.Val185=) c.552C= (p.Val184=) c.384C= (p.Val128=) | |
11 | g.67490402C>G | CA6140920 | AIP | c.709C>G c.543C>G (p.Val181=) n.1244C>G c.469-595C>G (n.469-595C>G) c.363C>G (p.Val121=) c.732C>G (p.Val244=) c.555C>G (p.Val185=) c.552C>G (p.Val184=) c.384C>G (p.Val128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490402C>T | CA6140921 | AIP | c.709C>T c.543C>T (p.Val181=) n.1244C>T c.469-595C>T (n.469-595C>T) c.363C>T (p.Val121=) c.732C>T (p.Val244=) c.555C>T (p.Val185=) c.552C>T (p.Val184=) c.384C>T (p.Val128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490403G>A | CA6140922 | AIP | c.710G>A c.544G>A (p.Glu182Lys) n.1245G>A c.469-594G>A (n.469-594G>A) c.364G>A (p.Glu122Lys) c.733G>A (p.Glu245Lys) c.556G>A (p.Glu186Lys) c.553G>A (p.Glu185Lys) c.385G>A (p.Glu129Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490403G>C | CA381551805 | AIP | c.710G>C c.544G>C (p.Glu182Gln) n.1245G>C c.469-594G>C (n.469-594G>C) c.364G>C (p.Glu122Gln) c.733G>C (p.Glu245Gln) c.556G>C (p.Glu186Gln) c.553G>C (p.Glu185Gln) c.385G>C (p.Glu129Gln) | ClinVar |
11 | g.67490403G= | CA1980172446 | AIP | c.710G= c.544G= (p.Glu182=) n.1245G= c.469-594G= (n.469-594G=) c.364G= (p.Glu122=) c.733G= (p.Glu245=) c.556G= (p.Glu186=) c.553G= (p.Glu185=) c.385G= (p.Glu129=) | |
11 | g.67490403G>T | CA381551806 | AIP | c.710G>T c.544G>T (p.Glu182Ter) n.1245G>T c.469-594G>T (n.469-594G>T) c.364G>T (p.Glu122Ter) c.733G>T (p.Glu245Ter) c.556G>T (p.Glu186Ter) c.553G>T (p.Glu185Ter) c.385G>T (p.Glu129Ter) | gnomAD v4 |
11 | g.67490406_67490408del | CA2695214804 | AIP | c.713_715del c.547_549del (p.Glu183del) n.1248_1250del c.469-591_469-589del (n.469-591_469-589del) c.367_369del (p.Glu123del) c.736_738del (p.Glu246del) c.559_561del (p.Glu187del) c.556_558del (p.Glu186del) c.388_390del (p.Glu130del) | ClinVar |
11 | g.67490404A>C | CA381551808 | AIP | c.711A>C c.545A>C (p.Glu182Ala) n.1246A>C c.469-593A>C (n.469-593A>C) c.365A>C (p.Glu122Ala) c.734A>C (p.Glu245Ala) c.557A>C (p.Glu186Ala) c.554A>C (p.Glu185Ala) c.386A>C (p.Glu129Ala) | |
11 | g.67490404A>G | CA381551810 | AIP | c.711A>G c.545A>G (p.Glu182Gly) n.1246A>G c.469-593A>G (n.469-593A>G) c.365A>G (p.Glu122Gly) c.734A>G (p.Glu245Gly) c.557A>G (p.Glu186Gly) c.554A>G (p.Glu185Gly) c.386A>G (p.Glu129Gly) | |
11 | g.67490404A>T | CA381551812 | AIP | c.711A>T c.545A>T (p.Glu182Val) n.1246A>T c.469-593A>T (n.469-593A>T) c.365A>T (p.Glu122Val) c.734A>T (p.Glu245Val) c.557A>T (p.Glu186Val) c.554A>T (p.Glu185Val) c.386A>T (p.Glu129Val) | |
11 | g.67490405G>A | CA6140923 | AIP | c.712G>A c.546G>A (p.Glu182=) n.1247G>A c.469-592G>A (n.469-592G>A) c.366G>A (p.Glu122=) c.735G>A (p.Glu245=) c.558G>A (p.Glu186=) c.555G>A (p.Glu185=) c.387G>A (p.Glu129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490405G>C | CA381551815 | AIP | c.712G>C c.546G>C (p.Glu182Asp) n.1247G>C c.469-592G>C (n.469-592G>C) c.366G>C (p.Glu122Asp) c.735G>C (p.Glu245Asp) c.558G>C (p.Glu186Asp) c.555G>C (p.Glu185Asp) c.387G>C (p.Glu129Asp) | |
11 | g.67490405G= | CA1980172447 | AIP | c.712G= c.546G= (p.Glu182=) n.1247G= c.469-592G= (n.469-592G=) c.366G= (p.Glu122=) c.735G= (p.Glu245=) c.558G= (p.Glu186=) c.555G= (p.Glu185=) c.387G= (p.Glu129=) | |
11 | g.67490405G>T | CA381551817 | AIP | c.712G>T c.546G>T (p.Glu182Asp) n.1247G>T c.469-592G>T (n.469-592G>T) c.366G>T (p.Glu122Asp) c.735G>T (p.Glu245Asp) c.558G>T (p.Glu186Asp) c.555G>T (p.Glu185Asp) c.387G>T (p.Glu129Asp) | gnomAD v4 |
11 | g.67490406G>A | CA6140924 | AIP | c.713G>A c.547G>A (p.Glu183Lys) n.1248G>A c.469-591G>A (n.469-591G>A) c.367G>A (p.Glu123Lys) c.736G>A (p.Glu246Lys) c.559G>A (p.Glu187Lys) c.556G>A (p.Glu186Lys) c.388G>A (p.Glu130Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490406G>C | CA381551820 | AIP | c.713G>C c.547G>C (p.Glu183Gln) n.1248G>C c.469-591G>C (n.469-591G>C) c.367G>C (p.Glu123Gln) c.736G>C (p.Glu246Gln) c.559G>C (p.Glu187Gln) c.556G>C (p.Glu186Gln) c.388G>C (p.Glu130Gln) | |
11 | g.67490406G= | CA1980172448 | AIP | c.713G= c.547G= (p.Glu183=) n.1248G= c.469-591G= (n.469-591G=) c.367G= (p.Glu123=) c.736G= (p.Glu246=) c.559G= (p.Glu187=) c.556G= (p.Glu186=) c.388G= (p.Glu130=) | |
11 | g.67490406G>T | CA381551822 | AIP | c.713G>T c.547G>T (p.Glu183Ter) n.1248G>T c.469-591G>T (n.469-591G>T) c.367G>T (p.Glu123Ter) c.736G>T (p.Glu246Ter) c.559G>T (p.Glu187Ter) c.556G>T (p.Glu186Ter) c.388G>T (p.Glu130Ter) | |
11 | g.67490407A>C | CA381551828 | AIP | c.714A>C c.548A>C (p.Glu183Ala) n.1249A>C c.469-590A>C (n.469-590A>C) c.368A>C (p.Glu123Ala) c.737A>C (p.Glu246Ala) c.560A>C (p.Glu187Ala) c.557A>C (p.Glu186Ala) c.389A>C (p.Glu130Ala) | |
11 | g.67490407A>G | CA381551827 | AIP | c.714A>G c.548A>G (p.Glu183Gly) n.1249A>G c.469-590A>G (n.469-590A>G) c.368A>G (p.Glu123Gly) c.737A>G (p.Glu246Gly) c.560A>G (p.Glu187Gly) c.557A>G (p.Glu186Gly) c.389A>G (p.Glu130Gly) | |
11 | g.67490407A>T | CA381551825 | AIP | c.714A>T c.548A>T (p.Glu183Val) n.1249A>T c.469-590A>T (n.469-590A>T) c.368A>T (p.Glu123Val) c.737A>T (p.Glu246Val) c.560A>T (p.Glu187Val) c.557A>T (p.Glu186Val) c.389A>T (p.Glu130Val) | |
11 | g.67490408G>A | CA6140925 | AIP | c.715G>A c.549G>A (p.Glu183=) n.1250G>A c.469-589G>A (n.469-589G>A) c.369G>A (p.Glu123=) c.738G>A (p.Glu246=) c.561G>A (p.Glu187=) c.558G>A (p.Glu186=) c.390G>A (p.Glu130=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.67490408G>C | CA381551833 | AIP | c.715G>C c.549G>C (p.Glu183Asp) n.1250G>C c.469-589G>C (n.469-589G>C) c.369G>C (p.Glu123Asp) c.738G>C (p.Glu246Asp) c.561G>C (p.Glu187Asp) c.558G>C (p.Glu186Asp) c.390G>C (p.Glu130Asp) | |
11 | g.67490408G= | CA1980172449 | AIP | c.715G= c.549G= (p.Glu183=) n.1250G= c.469-589G= (n.469-589G=) c.369G= (p.Glu123=) c.738G= (p.Glu246=) c.561G= (p.Glu187=) c.558G= (p.Glu186=) c.390G= (p.Glu130=) | |
11 | g.67490408G>T | CA381551832 | AIP | c.715G>T c.549G>T (p.Glu183Asp) n.1250G>T c.469-589G>T (n.469-589G>T) c.369G>T (p.Glu123Asp) c.738G>T (p.Glu246Asp) c.561G>T (p.Glu187Asp) c.558G>T (p.Glu186Asp) c.390G>T (p.Glu130Asp) | ClinVar gnomAD v4 |
11 | g.67490408_67490411delinsGTAC | CA1980172450 | AIP | c.715_718delinsGTAC c.549_552delinsGTAC (p.Glu183=) n.1250_1253delinsGTAC c.469-589_469-586delinsGTAC (n.469-589_469-586delinsGTAC) c.369_372delinsGTAC (p.Glu123=) c.738_741delinsGTAC (p.Glu246=) c.561_564delinsGTAC (p.Glu187=) c.558_561delinsGTAC (p.Glu186=) c.390_393delinsGTAC (p.Glu130=) | |
11 | g.67490409T>A | CA381551836 | AIP | c.716T>A c.550T>A (p.Tyr184Asn) n.1251T>A c.469-588T>A (n.469-588T>A) c.370T>A (p.Tyr124Asn) c.739T>A (p.Tyr247Asn) c.562T>A (p.Tyr188Asn) c.559T>A (p.Tyr187Asn) c.391T>A (p.Tyr131Asn) | |
11 | g.67490409T>C | CA381551840 | AIP | c.716T>C c.550T>C (p.Tyr184His) n.1251T>C c.469-588T>C (n.469-588T>C) c.370T>C (p.Tyr124His) c.739T>C (p.Tyr247His) c.562T>C (p.Tyr188His) c.559T>C (p.Tyr187His) c.391T>C (p.Tyr131His) | |
11 | g.67490409T>G | CA381551838 | AIP | c.716T>G c.550T>G (p.Tyr184Asp) n.1251T>G c.469-588T>G (n.469-588T>G) c.370T>G (p.Tyr124Asp) c.739T>G (p.Tyr247Asp) c.562T>G (p.Tyr188Asp) c.559T>G (p.Tyr187Asp) c.391T>G (p.Tyr131Asp) | dbSNP |
11 | g.67490409T= | CA1980172451 | AIP | c.716T= c.550T= (p.Tyr184=) n.1251T= c.469-588T= (n.469-588T=) c.370T= (p.Tyr124=) c.739T= (p.Tyr247=) c.562T= (p.Tyr188=) c.559T= (p.Tyr187=) c.391T= (p.Tyr131=) | |
11 | g.67490412_67490414del | CA344175 | AIP | c.719_721del c.553_555del (p.Tyr185del) n.1254_1256del c.469-585_469-583del (n.469-585_469-583del) c.373_375del (p.Tyr125del) c.742_744del (p.Tyr248del) c.565_567del (p.Tyr189del) c.562_564del (p.Tyr188del) c.394_396del (p.Tyr132del) | ClinVar dbSNP |
11 | g.67490410A>C | CA381551842 | AIP | c.717A>C c.551A>C (p.Tyr184Ser) n.1252A>C c.469-587A>C (n.469-587A>C) c.371A>C (p.Tyr124Ser) c.740A>C (p.Tyr247Ser) c.563A>C (p.Tyr188Ser) c.560A>C (p.Tyr187Ser) c.392A>C (p.Tyr131Ser) | |
11 | g.67490410A>G | CA381551844 | AIP | c.717A>G c.551A>G (p.Tyr184Cys) n.1252A>G c.469-587A>G (n.469-587A>G) c.371A>G (p.Tyr124Cys) c.740A>G (p.Tyr247Cys) c.563A>G (p.Tyr188Cys) c.560A>G (p.Tyr187Cys) c.392A>G (p.Tyr131Cys) | gnomAD v4 |
11 | g.67490410A>T | CA381551846 | AIP | c.717A>T c.551A>T (p.Tyr184Phe) n.1252A>T c.469-587A>T (n.469-587A>T) c.371A>T (p.Tyr124Phe) c.740A>T (p.Tyr247Phe) c.563A>T (p.Tyr188Phe) c.560A>T (p.Tyr187Phe) c.392A>T (p.Tyr131Phe) | ClinVar |
11 | g.67490411C>A | CA381551848 | AIP | c.718C>A c.552C>A (p.Tyr184Ter) n.1253C>A c.469-586C>A (n.469-586C>A) c.372C>A (p.Tyr124Ter) c.741C>A (p.Tyr247Ter) c.564C>A (p.Tyr188Ter) c.561C>A (p.Tyr187Ter) c.393C>A (p.Tyr131Ter) | |
11 | g.67490411C>G | CA381551850 | AIP | c.718C>G c.552C>G (p.Tyr184Ter) n.1253C>G c.469-586C>G (n.469-586C>G) c.372C>G (p.Tyr124Ter) c.741C>G (p.Tyr247Ter) c.564C>G (p.Tyr188Ter) c.561C>G (p.Tyr187Ter) c.393C>G (p.Tyr131Ter) | COSMIC |
11 | g.67490411C>T | CA475509268 | AIP | c.718C>T c.552C>T (p.Tyr184=) n.1253C>T c.469-586C>T (n.469-586C>T) c.372C>T (p.Tyr124=) c.741C>T (p.Tyr247=) c.564C>T (p.Tyr188=) c.561C>T (p.Tyr187=) c.393C>T (p.Tyr131=) | |
11 | g.67490412T>A | CA381551852 | AIP | c.719T>A c.553T>A (p.Tyr185Asn) n.1254T>A c.469-585T>A (n.469-585T>A) c.373T>A (p.Tyr125Asn) c.742T>A (p.Tyr248Asn) c.565T>A (p.Tyr189Asn) c.562T>A (p.Tyr188Asn) c.394T>A (p.Tyr132Asn) | |
11 | g.67490412T>C | CA381551854 | AIP | c.719T>C c.553T>C (p.Tyr185His) n.1254T>C c.469-585T>C (n.469-585T>C) c.373T>C (p.Tyr125His) c.742T>C (p.Tyr248His) c.565T>C (p.Tyr189His) c.562T>C (p.Tyr188His) c.394T>C (p.Tyr132His) | ClinVar |
11 | g.67490412T>G | CA381551856 | AIP | c.719T>G c.553T>G (p.Tyr185Asp) n.1254T>G c.469-585T>G (n.469-585T>G) c.373T>G (p.Tyr125Asp) c.742T>G (p.Tyr248Asp) c.565T>G (p.Tyr189Asp) c.562T>G (p.Tyr188Asp) c.394T>G (p.Tyr132Asp) | |
11 | g.67490413A= | CA1980172452 | AIP | c.720A= c.554A= (p.Tyr185=) n.1255A= c.469-584A= (n.469-584A=) c.374A= (p.Tyr125=) c.743A= (p.Tyr248=) c.566A= (p.Tyr189=) c.563A= (p.Tyr188=) c.395A= (p.Tyr132=) | |
11 | g.67490413A>C | CA381551858 | AIP | c.720A>C c.554A>C (p.Tyr185Ser) n.1255A>C c.469-584A>C (n.469-584A>C) c.374A>C (p.Tyr125Ser) c.743A>C (p.Tyr248Ser) c.566A>C (p.Tyr189Ser) c.563A>C (p.Tyr188Ser) c.395A>C (p.Tyr132Ser) | |
11 | g.67490413A>G | CA381551860 | AIP | c.720A>G c.554A>G (p.Tyr185Cys) n.1255A>G c.469-584A>G (n.469-584A>G) c.374A>G (p.Tyr125Cys) c.743A>G (p.Tyr248Cys) c.566A>G (p.Tyr189Cys) c.563A>G (p.Tyr188Cys) c.395A>G (p.Tyr132Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490413A>T | CA381551861 | AIP | c.720A>T c.554A>T (p.Tyr185Phe) n.1255A>T c.469-584A>T (n.469-584A>T) c.374A>T (p.Tyr125Phe) c.743A>T (p.Tyr248Phe) c.566A>T (p.Tyr189Phe) c.563A>T (p.Tyr188Phe) c.395A>T (p.Tyr132Phe) | |
11 | g.67490414C>A | CA381551862 | AIP | c.721C>A c.555C>A (p.Tyr185Ter) n.1256C>A c.469-583C>A (n.469-583C>A) c.375C>A (p.Tyr125Ter) c.744C>A (p.Tyr248Ter) c.567C>A (p.Tyr189Ter) c.564C>A (p.Tyr188Ter) c.396C>A (p.Tyr132Ter) | |
11 | g.67490414C= | CA1980172453 | AIP | c.721C= c.555C= (p.Tyr185=) n.1256C= c.469-583C= (n.469-583C=) c.375C= (p.Tyr125=) c.744C= (p.Tyr248=) c.567C= (p.Tyr189=) c.564C= (p.Tyr188=) c.396C= (p.Tyr132=) | |
11 | g.67490414C>G | CA381551863 | AIP | c.721C>G c.555C>G (p.Tyr185Ter) n.1256C>G c.469-583C>G (n.469-583C>G) c.375C>G (p.Tyr125Ter) c.744C>G (p.Tyr248Ter) c.567C>G (p.Tyr189Ter) c.564C>G (p.Tyr188Ter) c.396C>G (p.Tyr132Ter) | |
11 | g.67490414C>T | CA6140926 | AIP | c.721C>T c.555C>T (p.Tyr185=) n.1256C>T c.469-583C>T (n.469-583C>T) c.375C>T (p.Tyr125=) c.744C>T (p.Tyr248=) c.567C>T (p.Tyr189=) c.564C>T (p.Tyr188=) c.396C>T (p.Tyr132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490415G>A | CA381551864 | AIP | c.722G>A c.556G>A (p.Glu186Lys) n.1257G>A c.469-582G>A (n.469-582G>A) c.376G>A (p.Glu126Lys) c.745G>A (p.Glu249Lys) c.568G>A (p.Glu190Lys) c.565G>A (p.Glu189Lys) c.397G>A (p.Glu133Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490415G>C | CA381551866 | AIP | c.722G>C c.556G>C (p.Glu186Gln) n.1257G>C c.469-582G>C (n.469-582G>C) c.376G>C (p.Glu126Gln) c.745G>C (p.Glu249Gln) c.568G>C (p.Glu190Gln) c.565G>C (p.Glu189Gln) c.397G>C (p.Glu133Gln) | ClinVar |
11 | g.67490415G= | CA1980172454 | AIP | c.722G= c.556G= (p.Glu186=) n.1257G= c.469-582G= (n.469-582G=) c.376G= (p.Glu126=) c.745G= (p.Glu249=) c.568G= (p.Glu190=) c.565G= (p.Glu189=) c.397G= (p.Glu133=) | |
11 | g.67490415G>T | CA381551865 | AIP | c.722G>T c.556G>T (p.Glu186Ter) n.1257G>T c.469-582G>T (n.469-582G>T) c.376G>T (p.Glu126Ter) c.745G>T (p.Glu249Ter) c.568G>T (p.Glu190Ter) c.565G>T (p.Glu189Ter) c.397G>T (p.Glu133Ter) | |
11 | g.67490416A>C | CA381551867 | AIP | c.723A>C c.557A>C (p.Glu186Ala) n.1258A>C c.469-581A>C (n.469-581A>C) c.377A>C (p.Glu126Ala) c.746A>C (p.Glu249Ala) c.569A>C (p.Glu190Ala) c.566A>C (p.Glu189Ala) c.398A>C (p.Glu133Ala) | |
11 | g.67490416A>G | CA381551868 | AIP | c.723A>G c.557A>G (p.Glu186Gly) n.1258A>G c.469-581A>G (n.469-581A>G) c.377A>G (p.Glu126Gly) c.746A>G (p.Glu249Gly) c.569A>G (p.Glu190Gly) c.566A>G (p.Glu189Gly) c.398A>G (p.Glu133Gly) | |
11 | g.67490416A>T | CA381551869 | AIP | c.723A>T c.557A>T (p.Glu186Val) n.1258A>T c.469-581A>T (n.469-581A>T) c.377A>T (p.Glu126Val) c.746A>T (p.Glu249Val) c.569A>T (p.Glu190Val) c.566A>T (p.Glu189Val) c.398A>T (p.Glu133Val) | |
11 | g.67490417G>A | CA6140927 | AIP | c.724G>A c.558G>A (p.Glu186=) n.1259G>A c.469-580G>A (n.469-580G>A) c.378G>A (p.Glu126=) c.747G>A (p.Glu249=) c.570G>A (p.Glu190=) c.567G>A (p.Glu189=) c.399G>A (p.Glu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490417G>C | CA381551870 | AIP | c.724G>C c.558G>C (p.Glu186Asp) n.1259G>C c.469-580G>C (n.469-580G>C) c.378G>C (p.Glu126Asp) c.747G>C (p.Glu249Asp) c.570G>C (p.Glu190Asp) c.567G>C (p.Glu189Asp) c.399G>C (p.Glu133Asp) | |
11 | g.67490417G= | CA1980172455 | AIP | c.724G= c.558G= (p.Glu186=) n.1259G= c.469-580G= (n.469-580G=) c.378G= (p.Glu126=) c.747G= (p.Glu249=) c.570G= (p.Glu190=) c.567G= (p.Glu189=) c.399G= (p.Glu133=) | |
11 | g.67490417G>T | CA381551871 | AIP | c.724G>T c.558G>T (p.Glu186Asp) n.1259G>T c.469-580G>T (n.469-580G>T) c.378G>T (p.Glu126Asp) c.747G>T (p.Glu249Asp) c.570G>T (p.Glu190Asp) c.567G>T (p.Glu189Asp) c.399G>T (p.Glu133Asp) | |
11 | g.67490418G>A | CA381551872 | AIP | c.725G>A c.559G>A (p.Val187Met) n.1260G>A c.469-579G>A (n.469-579G>A) c.379G>A (p.Val127Met) c.748G>A (p.Val250Met) c.571G>A (p.Val191Met) c.568G>A (p.Val190Met) c.400G>A (p.Val134Met) | |
11 | g.67490418G>C | CA381551873 | AIP | c.725G>C c.559G>C (p.Val187Leu) n.1260G>C c.469-579G>C (n.469-579G>C) c.379G>C (p.Val127Leu) c.748G>C (p.Val250Leu) c.571G>C (p.Val191Leu) c.568G>C (p.Val190Leu) c.400G>C (p.Val134Leu) | ClinVar |
11 | g.67490418G>T | CA381551874 | AIP | c.725G>T c.559G>T (p.Val187Leu) n.1260G>T c.469-579G>T (n.469-579G>T) c.379G>T (p.Val127Leu) c.748G>T (p.Val250Leu) c.571G>T (p.Val191Leu) c.568G>T (p.Val190Leu) c.400G>T (p.Val134Leu) | gnomAD v4 |
11 | g.67490419T>A | CA381551876 | AIP | c.726T>A c.560T>A (p.Val187Glu) n.1261T>A c.469-578T>A (n.469-578T>A) c.380T>A (p.Val127Glu) c.749T>A (p.Val250Glu) c.572T>A (p.Val191Glu) c.569T>A (p.Val190Glu) c.401T>A (p.Val134Glu) | dbSNP |
11 | g.67490419T>C | CA381551877 | AIP | c.726T>C c.560T>C (p.Val187Ala) n.1261T>C c.469-578T>C (n.469-578T>C) c.380T>C (p.Val127Ala) c.749T>C (p.Val250Ala) c.572T>C (p.Val191Ala) c.569T>C (p.Val190Ala) c.401T>C (p.Val134Ala) | |
11 | g.67490419T>G | CA381551875 | AIP | c.726T>G c.560T>G (p.Val187Gly) n.1261T>G c.469-578T>G (n.469-578T>G) c.380T>G (p.Val127Gly) c.749T>G (p.Val250Gly) c.572T>G (p.Val191Gly) c.569T>G (p.Val190Gly) c.401T>G (p.Val134Gly) | |
11 | g.67490419T= | CA1980172456 | AIP | c.726T= c.560T= (p.Val187=) n.1261T= c.469-578T= (n.469-578T=) c.380T= (p.Val127=) c.749T= (p.Val250=) c.572T= (p.Val191=) c.569T= (p.Val190=) c.401T= (p.Val134=) | |
11 | g.67490420G>A | CA475509273 | AIP | c.727G>A c.561G>A (p.Val187=) n.1262G>A c.469-577G>A (n.469-577G>A) c.381G>A (p.Val127=) c.750G>A (p.Val250=) c.573G>A (p.Val191=) c.570G>A (p.Val190=) c.402G>A (p.Val134=) | |
11 | g.67490420G>C | CA475509275 | AIP | c.727G>C c.561G>C (p.Val187=) n.1262G>C c.469-577G>C (n.469-577G>C) c.381G>C (p.Val127=) c.750G>C (p.Val250=) c.573G>C (p.Val191=) c.570G>C (p.Val190=) c.402G>C (p.Val134=) | ClinVar |
11 | g.67490420G>T | CA475509277 | AIP | c.727G>T c.561G>T (p.Val187=) n.1262G>T c.469-577G>T (n.469-577G>T) c.381G>T (p.Val127=) c.750G>T (p.Val250=) c.573G>T (p.Val191=) c.570G>T (p.Val190=) c.402G>T (p.Val134=) | |
11 | g.67490421C>A | CA381551878 | AIP | c.728C>A c.562C>A (p.Leu188Met) n.1263C>A c.469-576C>A (n.469-576C>A) c.382C>A (p.Leu128Met) c.751C>A (p.Leu251Met) c.574C>A (p.Leu192Met) c.571C>A (p.Leu191Met) c.403C>A (p.Leu135Met) | |
11 | g.67490421C>G | CA381551879 | AIP | c.728C>G c.562C>G (p.Leu188Val) n.1263C>G c.469-576C>G (n.469-576C>G) c.382C>G (p.Leu128Val) c.751C>G (p.Leu251Val) c.574C>G (p.Leu192Val) c.571C>G (p.Leu191Val) c.403C>G (p.Leu135Val) | ClinVar gnomAD v4 |
11 | g.67490421C>T | CA475509278 | AIP | c.728C>T c.562C>T (p.Leu188=) n.1263C>T c.469-576C>T (n.469-576C>T) c.382C>T (p.Leu128=) c.751C>T (p.Leu251=) c.574C>T (p.Leu192=) c.571C>T (p.Leu191=) c.403C>T (p.Leu135=) | |
11 | g.67490422del | CA2695214805 | AIP | c.729del c.563del (p.Leu188ArgfsTer?) n.1264del c.469-575del (n.469-575del) c.383del (p.Leu128ArgfsTer?) c.752del (p.Leu251ArgfsTer?) c.575del (p.Leu192ArgfsTer?) c.572del (p.Leu191ArgfsTer?) c.404del (p.Leu135ArgfsTer?) | |
11 | g.67490422T>A | CA381551880 | AIP | c.729T>A c.563T>A (p.Leu188Gln) n.1264T>A c.469-575T>A (n.469-575T>A) c.383T>A (p.Leu128Gln) c.752T>A (p.Leu251Gln) c.575T>A (p.Leu192Gln) c.572T>A (p.Leu191Gln) c.404T>A (p.Leu135Gln) | |
11 | g.67490422T>C | CA381551881 | AIP | c.729T>C c.563T>C (p.Leu188Pro) n.1264T>C c.469-575T>C (n.469-575T>C) c.383T>C (p.Leu128Pro) c.752T>C (p.Leu251Pro) c.575T>C (p.Leu192Pro) c.572T>C (p.Leu191Pro) c.404T>C (p.Leu135Pro) | |
11 | g.67490422T>G | CA381551882 | AIP | c.729T>G c.563T>G (p.Leu188Arg) n.1264T>G c.469-575T>G (n.469-575T>G) c.383T>G (p.Leu128Arg) c.752T>G (p.Leu251Arg) c.575T>G (p.Leu192Arg) c.572T>G (p.Leu191Arg) c.404T>G (p.Leu135Arg) | |
11 | g.67490423G>A | CA6140928 | AIP | c.730G>A c.564G>A (p.Leu188=) n.1265G>A c.469-574G>A (n.469-574G>A) c.384G>A (p.Leu128=) c.753G>A (p.Leu251=) c.576G>A (p.Leu192=) c.573G>A (p.Leu191=) c.405G>A (p.Leu135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490423G>C | CA475509279 | AIP | c.730G>C c.564G>C (p.Leu188=) n.1265G>C c.469-574G>C (n.469-574G>C) c.384G>C (p.Leu128=) c.753G>C (p.Leu251=) c.576G>C (p.Leu192=) c.573G>C (p.Leu191=) c.405G>C (p.Leu135=) | |
11 | g.67490423G= | CA1980172457 | AIP | c.730G= c.564G= (p.Leu188=) n.1265G= c.469-574G= (n.469-574G=) c.384G= (p.Leu128=) c.753G= (p.Leu251=) c.576G= (p.Leu192=) c.573G= (p.Leu191=) c.405G= (p.Leu135=) | |
11 | g.67490423G>T | CA475509280 | AIP | c.730G>T c.564G>T (p.Leu188=) n.1265G>T c.469-574G>T (n.469-574G>T) c.384G>T (p.Leu128=) c.753G>T (p.Leu251=) c.576G>T (p.Leu192=) c.573G>T (p.Leu191=) c.405G>T (p.Leu135=) | ClinVar |
11 | g.67490424G>A | CA381551883 | AIP | c.731G>A c.565G>A (p.Asp189Asn) n.1266G>A c.469-573G>A (n.469-573G>A) c.385G>A (p.Asp129Asn) c.754G>A (p.Asp252Asn) c.577G>A (p.Asp193Asn) c.574G>A (p.Asp192Asn) c.406G>A (p.Asp136Asn) | |
11 | g.67490424G>C | CA381551884 | AIP | c.731G>C c.565G>C (p.Asp189His) n.1266G>C c.469-573G>C (n.469-573G>C) c.385G>C (p.Asp129His) c.754G>C (p.Asp252His) c.577G>C (p.Asp193His) c.574G>C (p.Asp192His) c.406G>C (p.Asp136His) | |
11 | g.67490424G>T | CA381551885 | AIP | c.731G>T c.565G>T (p.Asp189Tyr) n.1266G>T c.469-573G>T (n.469-573G>T) c.385G>T (p.Asp129Tyr) c.754G>T (p.Asp252Tyr) c.577G>T (p.Asp193Tyr) c.574G>T (p.Asp192Tyr) c.406G>T (p.Asp136Tyr) | gnomAD v4 |
11 | g.67490425A>C | CA381551886 | AIP | c.732A>C c.566A>C (p.Asp189Ala) n.1267A>C c.469-572A>C (n.469-572A>C) c.386A>C (p.Asp129Ala) c.755A>C (p.Asp252Ala) c.578A>C (p.Asp193Ala) c.575A>C (p.Asp192Ala) c.407A>C (p.Asp136Ala) | |
11 | g.67490425A>G | CA381551887 | AIP | c.732A>G c.566A>G (p.Asp189Gly) n.1267A>G c.469-572A>G (n.469-572A>G) c.386A>G (p.Asp129Gly) c.755A>G (p.Asp252Gly) c.578A>G (p.Asp193Gly) c.575A>G (p.Asp192Gly) c.407A>G (p.Asp136Gly) | gnomAD v4 |
11 | g.67490425A>T | CA381551888 | AIP | c.732A>T c.566A>T (p.Asp189Val) n.1267A>T c.469-572A>T (n.469-572A>T) c.386A>T (p.Asp129Val) c.755A>T (p.Asp252Val) c.578A>T (p.Asp193Val) c.575A>T (p.Asp192Val) c.407A>T (p.Asp136Val) | |
11 | g.67490426C>A | CA381551889 | AIP | c.733C>A c.567C>A (p.Asp189Glu) n.1268C>A c.469-571C>A (n.469-571C>A) c.387C>A (p.Asp129Glu) c.756C>A (p.Asp252Glu) c.579C>A (p.Asp193Glu) c.576C>A (p.Asp192Glu) c.408C>A (p.Asp136Glu) | gnomAD v4 |
11 | g.67490426C= | CA1980172458 | AIP | c.733C= c.567C= (p.Asp189=) n.1268C= c.469-571C= (n.469-571C=) c.387C= (p.Asp129=) c.756C= (p.Asp252=) c.579C= (p.Asp193=) c.576C= (p.Asp192=) c.408C= (p.Asp136=) | |
11 | g.67490426C>G | CA381551890 | AIP | c.733C>G c.567C>G (p.Asp189Glu) n.1268C>G c.469-571C>G (n.469-571C>G) c.387C>G (p.Asp129Glu) c.756C>G (p.Asp252Glu) c.579C>G (p.Asp193Glu) c.576C>G (p.Asp192Glu) c.408C>G (p.Asp136Glu) | |
11 | g.67490426C>T | CA6140929 | AIP | c.733C>T c.567C>T (p.Asp189=) n.1268C>T c.469-571C>T (n.469-571C>T) c.387C>T (p.Asp129=) c.756C>T (p.Asp252=) c.579C>T (p.Asp193=) c.576C>T (p.Asp192=) c.408C>T (p.Asp136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490426_67490432dup | CA2825002039 | AIP | c.733_739dup c.567_573dup (p.Ser192ProfsTer?) n.1268_1274dup c.469-571_469-565dup (n.469-571_469-565dup) c.387_393dup (p.Ser132ProfsTer?) c.756_762dup (p.Ser255ProfsTer?) c.579_585dup (p.Ser196ProfsTer?) c.576_582dup (p.Ser195ProfsTer?) c.408_414dup (p.Ser139ProfsTer12) | ClinVar |
11 | g.67490427C>A | CA381551891 | AIP | c.734C>A c.568C>A (p.His190Asn) n.1269C>A c.469-570C>A (n.469-570C>A) c.388C>A (p.His130Asn) c.757C>A (p.His253Asn) c.580C>A (p.His194Asn) c.577C>A (p.His193Asn) c.409C>A (p.His137Asn) | |
11 | g.67490427C= | CA1980172459 | AIP | c.734C= c.568C= (p.His190=) n.1269C= c.469-570C= (n.469-570C=) c.388C= (p.His130=) c.757C= (p.His253=) c.580C= (p.His194=) c.577C= (p.His193=) c.409C= (p.His137=) | |
11 | g.67490427C>G | CA381551892 | AIP | c.734C>G c.568C>G (p.His190Asp) n.1269C>G c.469-570C>G (n.469-570C>G) c.388C>G (p.His130Asp) c.757C>G (p.His253Asp) c.580C>G (p.His194Asp) c.577C>G (p.His193Asp) c.409C>G (p.His137Asp) | |
11 | g.67490427C>T | CA381551893 | AIP | c.734C>T c.568C>T (p.His190Tyr) n.1269C>T c.469-570C>T (n.469-570C>T) c.388C>T (p.His130Tyr) c.757C>T (p.His253Tyr) c.580C>T (p.His194Tyr) c.577C>T (p.His193Tyr) c.409C>T (p.His137Tyr) | ClinVar dbSNP gnomAD v2 |
11 | g.67490428A= | CA1980172460 | AIP | c.735A= c.569A= (p.His190=) n.1270A= c.469-569A= (n.469-569A=) c.389A= (p.His130=) c.758A= (p.His253=) c.581A= (p.His194=) c.578A= (p.His193=) c.410A= (p.His137=) | |
11 | g.67490428A>C | CA381551894 | AIP | c.735A>C c.569A>C (p.His190Pro) n.1270A>C c.469-569A>C (n.469-569A>C) c.389A>C (p.His130Pro) c.758A>C (p.His253Pro) c.581A>C (p.His194Pro) c.578A>C (p.His193Pro) c.410A>C (p.His137Pro) | |
11 | g.67490428A>G | CA381551895 | AIP | c.735A>G c.569A>G (p.His190Arg) n.1270A>G c.469-569A>G (n.469-569A>G) c.389A>G (p.His130Arg) c.758A>G (p.His253Arg) c.581A>G (p.His194Arg) c.578A>G (p.His193Arg) c.410A>G (p.His137Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490428A>T | CA381551896 | AIP | c.735A>T c.569A>T (p.His190Leu) n.1270A>T c.469-569A>T (n.469-569A>T) c.389A>T (p.His130Leu) c.758A>T (p.His253Leu) c.581A>T (p.His194Leu) c.578A>T (p.His193Leu) c.410A>T (p.His137Leu) | |
11 | g.67490429C>A | CA381551897 | AIP | c.736C>A c.570C>A (p.His190Gln) n.1271C>A c.469-568C>A (n.469-568C>A) c.390C>A (p.His130Gln) c.759C>A (p.His253Gln) c.582C>A (p.His194Gln) c.579C>A (p.His193Gln) c.411C>A (p.His137Gln) | |
11 | g.67490429C= | CA1980172461 | AIP | c.736C= c.570C= (p.His190=) n.1271C= c.469-568C= (n.469-568C=) c.390C= (p.His130=) c.759C= (p.His253=) c.582C= (p.His194=) c.579C= (p.His193=) c.411C= (p.His137=) | |
11 | g.67490429C>G | CA6140930 | AIP | c.736C>G c.570C>G (p.His190Gln) n.1271C>G c.469-568C>G (n.469-568C>G) c.390C>G (p.His130Gln) c.759C>G (p.His253Gln) c.582C>G (p.His194Gln) c.579C>G (p.His193Gln) c.411C>G (p.His137Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490429C>T | CA475509289 | AIP | c.736C>T c.570C>T (p.His190=) n.1271C>T c.469-568C>T (n.469-568C>T) c.390C>T (p.His130=) c.759C>T (p.His253=) c.582C>T (p.His194=) c.579C>T (p.His193=) c.411C>T (p.His137=) | |
11 | g.67490430T>A | CA381551898 | AIP | c.737T>A c.571T>A (p.Cys191Ser) n.1272T>A c.469-567T>A (n.469-567T>A) c.391T>A (p.Cys131Ser) c.760T>A (p.Cys254Ser) c.583T>A (p.Cys195Ser) c.580T>A (p.Cys194Ser) c.412T>A (p.Cys138Ser) | |
11 | g.67490430T>C | CA381551899 | AIP | c.737T>C c.571T>C (p.Cys191Arg) n.1272T>C c.469-567T>C (n.469-567T>C) c.391T>C (p.Cys131Arg) c.760T>C (p.Cys254Arg) c.583T>C (p.Cys195Arg) c.580T>C (p.Cys194Arg) c.412T>C (p.Cys138Arg) | |
11 | g.67490430T>G | CA381551900 | AIP | c.737T>G c.571T>G (p.Cys191Gly) n.1272T>G c.469-567T>G (n.469-567T>G) c.391T>G (p.Cys131Gly) c.760T>G (p.Cys254Gly) c.583T>G (p.Cys195Gly) c.580T>G (p.Cys194Gly) c.412T>G (p.Cys138Gly) | |
11 | g.67490431G>A | CA381551901 | AIP | c.738G>A c.572G>A (p.Cys191Tyr) n.1273G>A c.469-566G>A (n.469-566G>A) c.392G>A (p.Cys131Tyr) c.761G>A (p.Cys254Tyr) c.584G>A (p.Cys195Tyr) c.581G>A (p.Cys194Tyr) c.413G>A (p.Cys138Tyr) | gnomAD v4 |
11 | g.67490431G>C | CA381551902 | AIP | c.738G>C c.572G>C (p.Cys191Ser) n.1273G>C c.469-566G>C (n.469-566G>C) c.392G>C (p.Cys131Ser) c.761G>C (p.Cys254Ser) c.584G>C (p.Cys195Ser) c.581G>C (p.Cys194Ser) c.413G>C (p.Cys138Ser) | |
11 | g.67490431G>T | CA381551903 | AIP | c.738G>T c.572G>T (p.Cys191Phe) n.1273G>T c.469-566G>T (n.469-566G>T) c.392G>T (p.Cys131Phe) c.761G>T (p.Cys254Phe) c.584G>T (p.Cys195Phe) c.581G>T (p.Cys194Phe) c.413G>T (p.Cys138Phe) | |
11 | g.67490432C>A | CA381551905 | AIP | c.739C>A c.573C>A (p.Cys191Ter) n.1274C>A c.469-565C>A (n.469-565C>A) c.393C>A (p.Cys131Ter) c.762C>A (p.Cys254Ter) c.585C>A (p.Cys195Ter) c.582C>A (p.Cys194Ter) c.414C>A (p.Cys138Ter) | |
11 | g.67490432C>G | CA381551904 | AIP | c.739C>G c.573C>G (p.Cys191Trp) n.1274C>G c.469-565C>G (n.469-565C>G) c.393C>G (p.Cys131Trp) c.762C>G (p.Cys254Trp) c.585C>G (p.Cys195Trp) c.582C>G (p.Cys194Trp) c.414C>G (p.Cys138Trp) | |
11 | g.67490432C>T | CA475509292 | AIP | c.739C>T c.573C>T (p.Cys191=) n.1274C>T c.469-565C>T (n.469-565C>T) c.393C>T (p.Cys131=) c.762C>T (p.Cys254=) c.585C>T (p.Cys195=) c.582C>T (p.Cys194=) c.414C>T (p.Cys138=) | |
11 | g.67490433T>A | CA381551906 | AIP | c.740T>A c.574T>A (p.Ser192Thr) n.1275T>A c.469-564T>A (n.469-564T>A) c.394T>A (p.Ser132Thr) c.763T>A (p.Ser255Thr) c.586T>A (p.Ser196Thr) c.583T>A (p.Ser195Thr) c.415T>A (p.Ser139Thr) | |
11 | g.67490433T>C | CA381551907 | AIP | c.740T>C c.574T>C (p.Ser192Pro) n.1275T>C c.469-564T>C (n.469-564T>C) c.394T>C (p.Ser132Pro) c.763T>C (p.Ser255Pro) c.586T>C (p.Ser196Pro) c.583T>C (p.Ser195Pro) c.415T>C (p.Ser139Pro) | |
11 | g.67490433T>G | CA381551908 | AIP | c.740T>G c.574T>G (p.Ser192Ala) n.1275T>G c.469-564T>G (n.469-564T>G) c.394T>G (p.Ser132Ala) c.763T>G (p.Ser255Ala) c.586T>G (p.Ser196Ala) c.583T>G (p.Ser195Ala) c.415T>G (p.Ser139Ala) | |
11 | g.67490434C>A | CA381551909 | AIP | c.741C>A c.575C>A (p.Ser192Tyr) n.1276C>A c.469-563C>A (n.469-563C>A) c.395C>A (p.Ser132Tyr) c.764C>A (p.Ser255Tyr) c.587C>A (p.Ser196Tyr) c.584C>A (p.Ser195Tyr) c.416C>A (p.Ser139Tyr) | |
11 | g.67490434C>G | CA381551910 | AIP | c.741C>G c.575C>G (p.Ser192Cys) n.1276C>G c.469-563C>G (n.469-563C>G) c.395C>G (p.Ser132Cys) c.764C>G (p.Ser255Cys) c.587C>G (p.Ser196Cys) c.584C>G (p.Ser195Cys) c.416C>G (p.Ser139Cys) | |
11 | g.67490434C>T | CA381551911 | AIP | c.741C>T c.575C>T (p.Ser192Phe) n.1276C>T c.469-563C>T (n.469-563C>T) c.395C>T (p.Ser132Phe) c.764C>T (p.Ser255Phe) c.587C>T (p.Ser196Phe) c.584C>T (p.Ser195Phe) c.416C>T (p.Ser139Phe) | |
11 | g.67490435T>A | CA475509294 | AIP | c.742T>A c.576T>A (p.Ser192=) n.1277T>A c.469-562T>A (n.469-562T>A) c.396T>A (p.Ser132=) c.765T>A (p.Ser255=) c.588T>A (p.Ser196=) c.585T>A (p.Ser195=) c.417T>A (p.Ser139=) | |
11 | g.67490435T>C | CA475509296 | AIP | c.742T>C c.576T>C (p.Ser192=) n.1277T>C c.469-562T>C (n.469-562T>C) c.396T>C (p.Ser132=) c.765T>C (p.Ser255=) c.588T>C (p.Ser196=) c.585T>C (p.Ser195=) c.417T>C (p.Ser139=) | |
11 | g.67490435T>G | CA475509298 | AIP | c.742T>G c.576T>G (p.Ser192=) n.1277T>G c.469-562T>G (n.469-562T>G) c.396T>G (p.Ser132=) c.765T>G (p.Ser255=) c.588T>G (p.Ser196=) c.585T>G (p.Ser195=) c.417T>G (p.Ser139=) | |
11 | g.67490436T>A | CA381551912 | AIP | c.743T>A c.577T>A (p.Ser193Thr) n.1278T>A c.469-561T>A (n.469-561T>A) c.397T>A (p.Ser133Thr) c.766T>A (p.Ser256Thr) c.589T>A (p.Ser197Thr) c.586T>A (p.Ser196Thr) c.418T>A (p.Ser140Thr) | |
11 | g.67490436T>C | CA381551913 | AIP | c.743T>C c.577T>C (p.Ser193Pro) n.1278T>C c.469-561T>C (n.469-561T>C) c.397T>C (p.Ser133Pro) c.766T>C (p.Ser256Pro) c.589T>C (p.Ser197Pro) c.586T>C (p.Ser196Pro) c.418T>C (p.Ser140Pro) | |
11 | g.67490436T>G | CA381551914 | AIP | c.743T>G c.577T>G (p.Ser193Ala) n.1278T>G c.469-561T>G (n.469-561T>G) c.397T>G (p.Ser133Ala) c.766T>G (p.Ser256Ala) c.589T>G (p.Ser197Ala) c.586T>G (p.Ser196Ala) c.418T>G (p.Ser140Ala) | |
11 | g.67490437C>A | CA381551915 | AIP | c.744C>A c.578C>A (p.Ser193Tyr) n.1279C>A c.469-560C>A (n.469-560C>A) c.398C>A (p.Ser133Tyr) c.767C>A (p.Ser256Tyr) c.590C>A (p.Ser197Tyr) c.587C>A (p.Ser196Tyr) c.419C>A (p.Ser140Tyr) | |
11 | g.67490437C>G | CA381551916 | AIP | c.744C>G c.578C>G (p.Ser193Cys) n.1279C>G c.469-560C>G (n.469-560C>G) c.398C>G (p.Ser133Cys) c.767C>G (p.Ser256Cys) c.590C>G (p.Ser197Cys) c.587C>G (p.Ser196Cys) c.419C>G (p.Ser140Cys) | |
11 | g.67490437C>T | CA381551917 | AIP | c.744C>T c.578C>T (p.Ser193Phe) n.1279C>T c.469-560C>T (n.469-560C>T) c.398C>T (p.Ser133Phe) c.767C>T (p.Ser256Phe) c.590C>T (p.Ser197Phe) c.587C>T (p.Ser196Phe) c.419C>T (p.Ser140Phe) | |
11 | g.67490438C>A | CA475509302 | AIP | c.745C>A c.579C>A (p.Ser193=) n.1280C>A c.469-559C>A (n.469-559C>A) c.399C>A (p.Ser133=) c.768C>A (p.Ser256=) c.591C>A (p.Ser197=) c.588C>A (p.Ser196=) c.420C>A (p.Ser140=) | |
11 | g.67490438C= | CA1980172462 | AIP | c.745C= c.579C= (p.Ser193=) n.1280C= c.469-559C= (n.469-559C=) c.399C= (p.Ser133=) c.768C= (p.Ser256=) c.591C= (p.Ser197=) c.588C= (p.Ser196=) c.420C= (p.Ser140=) | |
11 | g.67490438C>G | CA475509303 | AIP | c.745C>G c.579C>G (p.Ser193=) n.1280C>G c.469-559C>G (n.469-559C>G) c.399C>G (p.Ser133=) c.768C>G (p.Ser256=) c.591C>G (p.Ser197=) c.588C>G (p.Ser196=) c.420C>G (p.Ser140=) | |
11 | g.67490438C>T | CA6140931 | AIP | c.745C>T c.579C>T (p.Ser193=) n.1280C>T c.469-559C>T (n.469-559C>T) c.399C>T (p.Ser133=) c.768C>T (p.Ser256=) c.591C>T (p.Ser197=) c.588C>T (p.Ser196=) c.420C>T (p.Ser140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490439A= | CA1980172463 | AIP | c.746A= c.580A= (p.Ile194=) n.1281A= c.469-558A= (n.469-558A=) c.400A= (p.Ile134=) c.769A= (p.Ile257=) c.592A= (p.Ile198=) c.589A= (p.Ile197=) c.421A= (p.Ile141=) | |
11 | g.67490439A>C | CA381551919 | AIP | c.746A>C c.580A>C (p.Ile194Leu) n.1281A>C c.469-558A>C (n.469-558A>C) c.400A>C (p.Ile134Leu) c.769A>C (p.Ile257Leu) c.592A>C (p.Ile198Leu) c.589A>C (p.Ile197Leu) c.421A>C (p.Ile141Leu) | gnomAD v4 |
11 | g.67490439A>G | CA344179 | AIP | c.746A>G c.580A>G (p.Ile194Val) n.1281A>G c.469-558A>G (n.469-558A>G) c.400A>G (p.Ile134Val) c.769A>G (p.Ile257Val) c.592A>G (p.Ile198Val) c.589A>G (p.Ile197Val) c.421A>G (p.Ile141Val) | ClinVar dbSNP gnomAD v4 |
11 | g.67490439A>T | CA381551918 | AIP | c.746A>T c.580A>T (p.Ile194Phe) n.1281A>T c.469-558A>T (n.469-558A>T) c.400A>T (p.Ile134Phe) c.769A>T (p.Ile257Phe) c.592A>T (p.Ile198Phe) c.589A>T (p.Ile197Phe) c.421A>T (p.Ile141Phe) | |
11 | g.67490440T>A | CA381551920 | AIP | c.747T>A c.581T>A (p.Ile194Asn) n.1282T>A c.469-557T>A (n.469-557T>A) c.401T>A (p.Ile134Asn) c.770T>A (p.Ile257Asn) c.593T>A (p.Ile198Asn) c.590T>A (p.Ile197Asn) c.422T>A (p.Ile141Asn) | |
11 | g.67490440T>C | CA381551921 | AIP | c.747T>C c.581T>C (p.Ile194Thr) n.1282T>C c.469-557T>C (n.469-557T>C) c.401T>C (p.Ile134Thr) c.770T>C (p.Ile257Thr) c.593T>C (p.Ile198Thr) c.590T>C (p.Ile197Thr) c.422T>C (p.Ile141Thr) | |
11 | g.67490440T>G | CA381551922 | AIP | c.747T>G c.581T>G (p.Ile194Ser) n.1282T>G c.469-557T>G (n.469-557T>G) c.401T>G (p.Ile134Ser) c.770T>G (p.Ile257Ser) c.593T>G (p.Ile198Ser) c.590T>G (p.Ile197Ser) c.422T>G (p.Ile141Ser) | ClinVar |
11 | g.67490441C>A | CA475509306 | AIP | c.748C>A c.582C>A (p.Ile194=) n.1283C>A c.469-556C>A (n.469-556C>A) c.402C>A (p.Ile134=) c.771C>A (p.Ile257=) c.594C>A (p.Ile198=) c.591C>A (p.Ile197=) c.423C>A (p.Ile141=) | ClinVar |
11 | g.67490441C= | CA1980172464 | AIP | c.748C= c.582C= (p.Ile194=) n.1283C= c.469-556C= (n.469-556C=) c.402C= (p.Ile134=) c.771C= (p.Ile257=) c.594C= (p.Ile198=) c.591C= (p.Ile197=) c.423C= (p.Ile141=) | |
11 | g.67490441C>G | CA381551923 | AIP | c.748C>G c.582C>G (p.Ile194Met) n.1283C>G c.469-556C>G (n.469-556C>G) c.402C>G (p.Ile134Met) c.771C>G (p.Ile257Met) c.594C>G (p.Ile198Met) c.591C>G (p.Ile197Met) c.423C>G (p.Ile141Met) | |
11 | g.67490441C>T | CA475509307 | AIP | c.748C>T c.582C>T (p.Ile194=) n.1283C>T c.469-556C>T (n.469-556C>T) c.402C>T (p.Ile134=) c.771C>T (p.Ile257=) c.594C>T (p.Ile198=) c.591C>T (p.Ile197=) c.423C>T (p.Ile141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490442C>A | CA381551924 | AIP | c.749C>A c.583C>A (p.Leu195Ile) n.1284C>A c.469-555C>A (n.469-555C>A) c.403C>A (p.Leu135Ile) c.772C>A (p.Leu258Ile) c.595C>A (p.Leu199Ile) c.592C>A (p.Leu198Ile) c.424C>A (p.Leu142Ile) | |
11 | g.67490442C= | CA1980172465 | AIP | c.749C= c.583C= (p.Leu195=) n.1284C= c.469-555C= (n.469-555C=) c.403C= (p.Leu135=) c.772C= (p.Leu258=) c.595C= (p.Leu199=) c.592C= (p.Leu198=) c.424C= (p.Leu142=) | |
11 | g.67490442C>G | CA381551925 | AIP | c.749C>G c.583C>G (p.Leu195Val) n.1284C>G c.469-555C>G (n.469-555C>G) c.403C>G (p.Leu135Val) c.772C>G (p.Leu258Val) c.595C>G (p.Leu199Val) c.592C>G (p.Leu198Val) c.424C>G (p.Leu142Val) | |
11 | g.67490442C>T | CA6140932 | AIP | c.749C>T c.583C>T (p.Leu195Phe) n.1284C>T c.469-555C>T (n.469-555C>T) c.403C>T (p.Leu135Phe) c.772C>T (p.Leu258Phe) c.595C>T (p.Leu199Phe) c.592C>T (p.Leu198Phe) c.424C>T (p.Leu142Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490443T>A | CA381551926 | AIP | c.750T>A c.584T>A (p.Leu195His) n.1285T>A c.469-554T>A (n.469-554T>A) c.404T>A (p.Leu135His) c.773T>A (p.Leu258His) c.596T>A (p.Leu199His) c.593T>A (p.Leu198His) c.425T>A (p.Leu142His) | |
11 | g.67490443T>C | CA381551927 | AIP | c.750T>C c.584T>C (p.Leu195Pro) n.1285T>C c.469-554T>C (n.469-554T>C) c.404T>C (p.Leu135Pro) c.773T>C (p.Leu258Pro) c.596T>C (p.Leu199Pro) c.593T>C (p.Leu198Pro) c.425T>C (p.Leu142Pro) | |
11 | g.67490443T>G | CA381551928 | AIP | c.750T>G c.584T>G (p.Leu195Arg) n.1285T>G c.469-554T>G (n.469-554T>G) c.404T>G (p.Leu135Arg) c.773T>G (p.Leu258Arg) c.596T>G (p.Leu199Arg) c.593T>G (p.Leu198Arg) c.425T>G (p.Leu142Arg) | |
11 | g.67490444C>A | CA475509312 | AIP | c.751C>A c.585C>A (p.Leu195=) n.1286C>A c.469-553C>A (n.469-553C>A) c.405C>A (p.Leu135=) c.774C>A (p.Leu258=) c.597C>A (p.Leu199=) c.594C>A (p.Leu198=) c.426C>A (p.Leu142=) | ClinVar gnomAD v4 |
11 | g.67490444C= | CA1980172466 | AIP | c.751C= c.585C= (p.Leu195=) n.1286C= c.469-553C= (n.469-553C=) c.405C= (p.Leu135=) c.774C= (p.Leu258=) c.597C= (p.Leu199=) c.594C= (p.Leu198=) c.426C= (p.Leu142=) | |
11 | g.67490444C>G | CA475509313 | AIP | c.751C>G c.585C>G (p.Leu195=) n.1286C>G c.469-553C>G (n.469-553C>G) c.405C>G (p.Leu135=) c.774C>G (p.Leu258=) c.597C>G (p.Leu199=) c.594C>G (p.Leu198=) c.426C>G (p.Leu142=) | |
11 | g.67490444C>T | CA224165448 | AIP | c.751C>T c.585C>T (p.Leu195=) n.1286C>T c.469-553C>T (n.469-553C>T) c.405C>T (p.Leu135=) c.774C>T (p.Leu258=) c.597C>T (p.Leu199=) c.594C>T (p.Leu198=) c.426C>T (p.Leu142=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490445A= | CA1980172467 | AIP | c.752A= c.586A= (p.Asn196=) n.1287A= c.469-552A= (n.469-552A=) c.406A= (p.Asn136=) c.775A= (p.Asn259=) c.598A= (p.Asn200=) c.595A= (p.Asn199=) c.427A= (p.Asn143=) | |
11 | g.67490445A>C | CA381551929 | AIP | c.752A>C c.586A>C (p.Asn196His) n.1287A>C c.469-552A>C (n.469-552A>C) c.406A>C (p.Asn136His) c.775A>C (p.Asn259His) c.598A>C (p.Asn200His) c.595A>C (p.Asn199His) c.427A>C (p.Asn143His) | |
11 | g.67490445A>G | CA381551930 | AIP | c.752A>G c.586A>G (p.Asn196Asp) n.1287A>G c.469-552A>G (n.469-552A>G) c.406A>G (p.Asn136Asp) c.775A>G (p.Asn259Asp) c.598A>G (p.Asn200Asp) c.595A>G (p.Asn199Asp) c.427A>G (p.Asn143Asp) | dbSNP gnomAD v4 |
11 | g.67490445A>T | CA381551931 | AIP | c.752A>T c.586A>T (p.Asn196Tyr) n.1287A>T c.469-552A>T (n.469-552A>T) c.406A>T (p.Asn136Tyr) c.775A>T (p.Asn259Tyr) c.598A>T (p.Asn200Tyr) c.595A>T (p.Asn199Tyr) c.427A>T (p.Asn143Tyr) | |
11 | g.67490446A>C | CA381551934 | AIP | c.753A>C c.587A>C (p.Asn196Thr) n.1288A>C c.469-551A>C (n.469-551A>C) c.407A>C (p.Asn136Thr) c.776A>C (p.Asn259Thr) c.599A>C (p.Asn200Thr) c.596A>C (p.Asn199Thr) c.428A>C (p.Asn143Thr) | |
11 | g.67490446A>G | CA381551933 | AIP | c.753A>G c.587A>G (p.Asn196Ser) n.1288A>G c.469-551A>G (n.469-551A>G) c.407A>G (p.Asn136Ser) c.776A>G (p.Asn259Ser) c.599A>G (p.Asn200Ser) c.596A>G (p.Asn199Ser) c.428A>G (p.Asn143Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.67490446A>T | CA381551932 | AIP | c.753A>T c.587A>T (p.Asn196Ile) n.1288A>T c.469-551A>T (n.469-551A>T) c.407A>T (p.Asn136Ile) c.776A>T (p.Asn259Ile) c.599A>T (p.Asn200Ile) c.596A>T (p.Asn199Ile) c.428A>T (p.Asn143Ile) | |
11 | g.67490447C>A | CA381551935 | AIP | c.754C>A c.588C>A (p.Asn196Lys) n.1289C>A c.469-550C>A (n.469-550C>A) c.408C>A (p.Asn136Lys) c.777C>A (p.Asn259Lys) c.600C>A (p.Asn200Lys) c.597C>A (p.Asn199Lys) c.429C>A (p.Asn143Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490447C= | CA1980172468 | AIP | c.754C= c.588C= (p.Asn196=) n.1289C= c.469-550C= (n.469-550C=) c.408C= (p.Asn136=) c.777C= (p.Asn259=) c.600C= (p.Asn200=) c.597C= (p.Asn199=) c.429C= (p.Asn143=) | |
11 | g.67490447C>G | CA381551936 | AIP | c.754C>G c.588C>G (p.Asn196Lys) n.1289C>G c.469-550C>G (n.469-550C>G) c.408C>G (p.Asn136Lys) c.777C>G (p.Asn259Lys) c.600C>G (p.Asn200Lys) c.597C>G (p.Asn199Lys) c.429C>G (p.Asn143Lys) | ClinVar |
11 | g.67490447C>T | CA475509318 | AIP | c.754C>T c.588C>T (p.Asn196=) n.1289C>T c.469-550C>T (n.469-550C>T) c.408C>T (p.Asn136=) c.777C>T (p.Asn259=) c.600C>T (p.Asn200=) c.597C>T (p.Asn199=) c.429C>T (p.Asn143=) | ClinVar gnomAD v4 |
11 | g.67490448A>C | CA381551937 | AIP | c.755A>C c.589A>C (p.Lys197Gln) n.1290A>C c.469-549A>C (n.469-549A>C) c.409A>C (p.Lys137Gln) c.778A>C (p.Lys260Gln) c.601A>C (p.Lys201Gln) c.598A>C (p.Lys200Gln) c.430A>C (p.Lys144Gln) | |
11 | g.67490448A>G | CA381551938 | AIP | c.755A>G c.589A>G (p.Lys197Glu) n.1290A>G c.469-549A>G (n.469-549A>G) c.409A>G (p.Lys137Glu) c.778A>G (p.Lys260Glu) c.601A>G (p.Lys201Glu) c.598A>G (p.Lys200Glu) c.430A>G (p.Lys144Glu) | |
11 | g.67490448A>T | CA381551939 | AIP | c.755A>T c.589A>T (p.Lys197Ter) n.1290A>T c.469-549A>T (n.469-549A>T) c.409A>T (p.Lys137Ter) c.778A>T (p.Lys260Ter) c.601A>T (p.Lys201Ter) c.598A>T (p.Lys200Ter) c.430A>T (p.Lys144Ter) | |
11 | g.67490449del | CA2695214806 | AIP | c.756del c.590del (p.Lys197SerfsTer?) n.1291del c.469-548del (n.469-548del) c.410del (p.Lys137SerfsTer?) c.779del (p.Lys260SerfsTer?) c.779del (p.Lys260AsnfsTer?) c.602del (p.Lys201SerfsTer?) c.599del (p.Lys200SerfsTer?) c.431del (p.Lys144SerfsTer?) | |
11 | g.67490449A>C | CA381551940 | AIP | c.756A>C c.590A>C (p.Lys197Thr) n.1291A>C c.469-548A>C (n.469-548A>C) c.410A>C (p.Lys137Thr) c.779A>C (p.Lys260Thr) c.602A>C (p.Lys201Thr) c.599A>C (p.Lys200Thr) c.431A>C (p.Lys144Thr) | |
11 | g.67490449A>G | CA381551941 | AIP | c.756A>G c.590A>G (p.Lys197Arg) n.1291A>G c.469-548A>G (n.469-548A>G) c.410A>G (p.Lys137Arg) c.779A>G (p.Lys260Arg) c.602A>G (p.Lys201Arg) c.599A>G (p.Lys200Arg) c.431A>G (p.Lys144Arg) | |
11 | g.67490449A>T | CA381551942 | AIP | c.756A>T c.590A>T (p.Lys197Met) n.1291A>T c.469-548A>T (n.469-548A>T) c.410A>T (p.Lys137Met) c.779A>T (p.Lys260Met) c.779A>T (p.Lys260Ile) c.602A>T (p.Lys201Met) c.599A>T (p.Lys200Met) c.431A>T (p.Lys144Met) | |
11 | g.67490450G>A | CA475509320 | AIP | c.757G>A c.591G>A (p.Lys197=) n.1292G>A c.469-547G>A (n.469-547G>A) c.411G>A (p.Lys137=) c.780G>A (p.Lys260=) c.779+1G>A (n.779+1G>A) c.603G>A (p.Lys201=) c.600G>A (p.Lys200=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490450G>C | CA6140933 | AIP | c.757G>C c.591G>C (p.Lys197Asn) n.1292G>C c.469-547G>C (n.469-547G>C) c.411G>C (p.Lys137Asn) c.780G>C (p.Lys260Asn) c.779+1G>C (n.779+1G>C) c.603G>C (p.Lys201Asn) c.600G>C (p.Lys200Asn) c.432G>C (p.Lys144Asn) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.67490450G= | CA1980172469 | AIP | c.757G= c.591G= (p.Lys197=) n.1292G= c.469-547G= (n.469-547G=) c.411G= (p.Lys137=) c.780G= (p.Lys260=) c.779+1G= (n.779+1G=) c.603G= (p.Lys201=) c.600G= (p.Lys200=) c.432G= (p.Lys144=) | |
11 | g.67490450G>T | CA381551943 | AIP | c.757G>T c.591G>T (p.Lys197Asn) n.1292G>T c.469-547G>T (n.469-547G>T) c.411G>T (p.Lys137Asn) c.780G>T (p.Lys260Asn) c.779+1G>T (n.779+1G>T) c.603G>T (p.Lys201Asn) c.600G>T (p.Lys200Asn) c.432G>T (p.Lys144Asn) | |
11 | g.67490451T>A | CA381551944 | AIP | c.758T>A c.592T>A (p.Tyr198Asn) n.1293T>A c.469-546T>A (n.469-546T>A) c.412T>A (p.Tyr138Asn) c.781T>A (p.Tyr261Asn) c.779+2T>A (n.779+2T>A) c.604T>A (p.Tyr202Asn) c.601T>A (p.Tyr201Asn) c.433T>A (p.Tyr145Asn) | |
11 | g.67490451T>C | CA381551945 | AIP | c.758T>C c.592T>C (p.Tyr198His) n.1293T>C c.469-546T>C (n.469-546T>C) c.412T>C (p.Tyr138His) c.781T>C (p.Tyr261His) c.779+2T>C (n.779+2T>C) c.604T>C (p.Tyr202His) c.601T>C (p.Tyr201His) c.433T>C (p.Tyr145His) | gnomAD v4 COSMIC |
11 | g.67490451T>G | CA381551946 | AIP | c.758T>G c.592T>G (p.Tyr198Asp) n.1293T>G c.469-546T>G (n.469-546T>G) c.412T>G (p.Tyr138Asp) c.781T>G (p.Tyr261Asp) c.779+2T>G (n.779+2T>G) c.604T>G (p.Tyr202Asp) c.601T>G (p.Tyr201Asp) c.433T>G (p.Tyr145Asp) | |
11 | g.67490451_67490454delinsTACG | CA1980172470 | AIP | c.758_761delinsTACG c.592_595delinsTACG (p.Tyr198=) n.1293_1296delinsTACG c.469-546_469-543delinsTACG (n.469-546_469-543delinsTACG) c.412_415delinsTACG (p.Tyr138=) c.781_784delinsTACG (p.Tyr261=) c.779+2_779+5delinsTACG (n.779+2_779+5delinsTACG) c.604_607delinsTACG (p.Tyr202=) c.601_604delinsTACG (p.Tyr201=) c.433_436delinsTACG (p.Tyr145=) | |
11 | g.67490452A= | CA1980172471 | AIP | c.759A= c.593A= (p.Tyr198=) n.1294A= c.469-545A= (n.469-545A=) c.413A= (p.Tyr138=) c.782A= (p.Tyr261=) c.779+3A= (n.779+3A=) c.605A= (p.Tyr202=) c.602A= (p.Tyr201=) c.434A= (p.Tyr145=) | |
11 | g.67490452A>C | CA381551948 | AIP | c.759A>C c.593A>C (p.Tyr198Ser) n.1294A>C c.469-545A>C (n.469-545A>C) c.413A>C (p.Tyr138Ser) c.782A>C (p.Tyr261Ser) c.779+3A>C (n.779+3A>C) c.605A>C (p.Tyr202Ser) c.602A>C (p.Tyr201Ser) c.434A>C (p.Tyr145Ser) | |
11 | g.67490452A>G | CA224165453 | AIP | c.759A>G c.593A>G (p.Tyr198Cys) n.1294A>G c.469-545A>G (n.469-545A>G) c.413A>G (p.Tyr138Cys) c.782A>G (p.Tyr261Cys) c.779+3A>G (n.779+3A>G) c.605A>G (p.Tyr202Cys) c.602A>G (p.Tyr201Cys) c.434A>G (p.Tyr145Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490452A>T | CA381551947 | AIP | c.759A>T c.593A>T (p.Tyr198Phe) n.1294A>T c.469-545A>T (n.469-545A>T) c.413A>T (p.Tyr138Phe) c.782A>T (p.Tyr261Phe) c.779+3A>T (n.779+3A>T) c.605A>T (p.Tyr202Phe) c.602A>T (p.Tyr201Phe) c.434A>T (p.Tyr145Phe) | |
11 | g.67490452dup | CA2614624261 | AIP | c.759dup c.593dup (p.Tyr198Ter) n.1294dup c.469-545dup (n.469-545dup) c.413dup (p.Tyr138Ter) c.782dup (p.Tyr261Ter) c.779+3dup (n.779+3dup) c.605dup (p.Tyr202Ter) c.602dup (p.Tyr201Ter) c.434dup (p.Tyr145Ter) | gnomAD v4 |
11 | g.67490455_67490457del | CA6140934 | AIP | c.762_764del c.596_598del (p.Asp200del) n.1297_1299del c.469-542_469-540del (n.469-542_469-540del) c.416_418del (p.Asp140del) c.785_787del (p.Asp263del) c.779+6_779+8del (n.779+6_779+8del) c.608_610del (p.Asp204del) c.785_787del (p.Asp262del) c.605_607del (p.Asp203del) c.437_439del (p.Asp146del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490453C>A | CA381551949 | AIP | c.760C>A c.594C>A (p.Tyr198Ter) n.1295C>A c.469-544C>A (n.469-544C>A) c.414C>A (p.Tyr138Ter) c.783C>A (p.Tyr261Ter) c.779+4C>A (n.779+4C>A) c.606C>A (p.Tyr202Ter) c.603C>A (p.Tyr201Ter) c.435C>A (p.Tyr145Ter) | |
11 | g.67490453C= | CA1980172472 | AIP | c.760C= c.594C= (p.Tyr198=) n.1295C= c.469-544C= (n.469-544C=) c.414C= (p.Tyr138=) c.783C= (p.Tyr261=) c.779+4C= (n.779+4C=) c.606C= (p.Tyr202=) c.603C= (p.Tyr201=) c.435C= (p.Tyr145=) | |
11 | g.67490453C>G | CA381551950 | AIP | c.760C>G c.594C>G (p.Tyr198Ter) n.1295C>G c.469-544C>G (n.469-544C>G) c.414C>G (p.Tyr138Ter) c.783C>G (p.Tyr261Ter) c.779+4C>G (n.779+4C>G) c.606C>G (p.Tyr202Ter) c.603C>G (p.Tyr201Ter) c.435C>G (p.Tyr145Ter) | ClinVar COSMIC |
11 | g.67490453C>T | CA344183 | AIP | c.760C>T c.594C>T (p.Tyr198=) n.1295C>T c.469-544C>T (n.469-544C>T) c.414C>T (p.Tyr138=) c.783C>T (p.Tyr261=) c.779+4C>T (n.779+4C>T) c.606C>T (p.Tyr202=) c.603C>T (p.Tyr201=) c.435C>T (p.Tyr145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490454G>A | CA6140935 | AIP | c.761G>A c.595G>A (p.Asp199Asn) n.1296G>A c.469-543G>A (n.469-543G>A) c.415G>A (p.Asp139Asn) c.784G>A (p.Asp262Asn) c.779+5G>A (n.779+5G>A) c.607G>A (p.Asp203Asn) c.604G>A (p.Asp202Asn) c.436G>A (p.Asp146Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490454G>C | CA381551951 | AIP | c.761G>C c.595G>C (p.Asp199His) n.1296G>C c.469-543G>C (n.469-543G>C) c.415G>C (p.Asp139His) c.784G>C (p.Asp262His) c.779+5G>C (n.779+5G>C) c.607G>C (p.Asp203His) c.604G>C (p.Asp202His) c.436G>C (p.Asp146His) | |
11 | g.67490454G= | CA1980172473 | AIP | c.761G= c.595G= (p.Asp199=) n.1296G= c.469-543G= (n.469-543G=) c.415G= (p.Asp139=) c.784G= (p.Asp262=) c.779+5G= (n.779+5G=) c.607G= (p.Asp203=) c.604G= (p.Asp202=) c.436G= (p.Asp146=) | |
11 | g.67490454G>T | CA381551952 | AIP | c.761G>T c.595G>T (p.Asp199Tyr) n.1296G>T c.469-543G>T (n.469-543G>T) c.415G>T (p.Asp139Tyr) c.784G>T (p.Asp262Tyr) c.779+5G>T (n.779+5G>T) c.607G>T (p.Asp203Tyr) c.604G>T (p.Asp202Tyr) c.436G>T (p.Asp146Tyr) | gnomAD v4 |
11 | g.67490455A>C | CA381551953 | AIP | c.762A>C c.596A>C (p.Asp199Ala) n.1297A>C c.469-542A>C (n.469-542A>C) c.416A>C (p.Asp139Ala) c.785A>C (p.Asp262Ala) c.779+6A>C (n.779+6A>C) c.608A>C (p.Asp203Ala) c.605A>C (p.Asp202Ala) c.437A>C (p.Asp146Ala) | |
11 | g.67490455A>G | CA381551954 | AIP | c.762A>G c.596A>G (p.Asp199Gly) n.1297A>G c.469-542A>G (n.469-542A>G) c.416A>G (p.Asp139Gly) c.785A>G (p.Asp262Gly) c.779+6A>G (n.779+6A>G) c.608A>G (p.Asp203Gly) c.605A>G (p.Asp202Gly) c.437A>G (p.Asp146Gly) | |
11 | g.67490455A>T | CA381551955 | AIP | c.762A>T c.596A>T (p.Asp199Val) n.1297A>T c.469-542A>T (n.469-542A>T) c.416A>T (p.Asp139Val) c.785A>T (p.Asp262Val) c.779+6A>T (n.779+6A>T) c.608A>T (p.Asp203Val) c.605A>T (p.Asp202Val) c.437A>T (p.Asp146Val) | |
11 | g.67490456C>A | CA6140937 | AIP | c.763C>A c.597C>A (p.Asp199Glu) n.1298C>A c.469-541C>A (n.469-541C>A) c.417C>A (p.Asp139Glu) c.786C>A (p.Asp262Glu) c.779+7C>A (n.779+7C>A) c.609C>A (p.Asp203Glu) c.606C>A (p.Asp202Glu) c.438C>A (p.Asp146Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490456C= | CA1980172474 | AIP | c.763C= c.597C= (p.Asp199=) n.1298C= c.469-541C= (n.469-541C=) c.417C= (p.Asp139=) c.786C= (p.Asp262=) c.779+7C= (n.779+7C=) c.609C= (p.Asp203=) c.606C= (p.Asp202=) c.438C= (p.Asp146=) | |
11 | g.67490456C>G | CA381551956 | AIP | c.763C>G c.597C>G (p.Asp199Glu) n.1298C>G c.469-541C>G (n.469-541C>G) c.417C>G (p.Asp139Glu) c.786C>G (p.Asp262Glu) c.779+7C>G (n.779+7C>G) c.609C>G (p.Asp203Glu) c.606C>G (p.Asp202Glu) c.438C>G (p.Asp146Glu) | |
11 | g.67490456C>T | CA6140936 | AIP | c.763C>T c.597C>T (p.Asp199=) n.1298C>T c.469-541C>T (n.469-541C>T) c.417C>T (p.Asp139=) c.786C>T (p.Asp262=) c.779+7C>T (n.779+7C>T) c.609C>T (p.Asp203=) c.606C>T (p.Asp202=) c.438C>T (p.Asp146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490457G>A | CA381551957 | AIP | c.764G>A c.598G>A (p.Asp200Asn) n.1299G>A c.469-540G>A (n.469-540G>A) c.418G>A (p.Asp140Asn) c.787G>A (p.Asp263Asn) c.779+8G>A (n.779+8G>A) c.610G>A (p.Asp204Asn) c.787G>A (p.Gly263Ser) c.607G>A (p.Asp203Asn) c.439G>A (p.Gly147Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490457G>C | CA381551959 | AIP | c.764G>C c.598G>C (p.Asp200His) n.1299G>C c.469-540G>C (n.469-540G>C) c.418G>C (p.Asp140His) c.787G>C (p.Asp263His) c.779+8G>C (n.779+8G>C) c.610G>C (p.Asp204His) c.787G>C (p.Gly263Arg) c.607G>C (p.Asp203His) c.439G>C (p.Gly147Arg) | |
11 | g.67490457G= | CA1980172475 | AIP | c.764G= c.598G= (p.Asp200=) n.1299G= c.469-540G= (n.469-540G=) c.418G= (p.Asp140=) c.787G= (p.Asp263=) c.779+8G= (n.779+8G=) c.610G= (p.Asp204=) c.787G= (p.Gly263=) c.607G= (p.Asp203=) c.439G= (p.Gly147=) | |
11 | g.67490457G>T | CA381551958 | AIP | c.764G>T c.598G>T (p.Asp200Tyr) n.1299G>T c.469-540G>T (n.469-540G>T) c.418G>T (p.Asp140Tyr) c.787G>T (p.Asp263Tyr) c.779+8G>T (n.779+8G>T) c.610G>T (p.Asp204Tyr) c.787G>T (p.Gly263Cys) c.607G>T (p.Asp203Tyr) c.439G>T (p.Gly147Cys) | gnomAD v4 |
11 | g.67490457_67490458insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC | CA2724392472 | AIP | c.764_765insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC c.598_598+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.598_598+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) n.1299_1300insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC c.469-540_469-539insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.469-540_469-539insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.418_418+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.418_418+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.787_787+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.787_787+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.779+8_779+9insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.779+8_779+9insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.610_610+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.610_610+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.607_607+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.607_607+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC) c.439_440insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (p.Gly147AspfsTer41) | dbSNP |
11 | g.67490458G>A | CA381551960 | AIP | c.765G>A c.598+1G>A (n.598+1G>A) n.1300G>A c.469-539G>A (n.469-539G>A) c.418+1G>A (n.418+1G>A) c.787+1G>A (n.787+1G>A) c.779+9G>A (n.779+9G>A) c.610+1G>A (n.610+1G>A) c.607+1G>A (n.607+1G>A) c.440G>A (p.Gly147Asp) | |
11 | g.67490458G>C | CA381551962 | AIP | c.765G>C c.598+1G>C (n.598+1G>C) n.1300G>C c.469-539G>C (n.469-539G>C) c.418+1G>C (n.418+1G>C) c.787+1G>C (n.787+1G>C) c.779+9G>C (n.779+9G>C) c.610+1G>C (n.610+1G>C) c.607+1G>C (n.607+1G>C) c.440G>C (p.Gly147Ala) | |
11 | g.67490458G>T | CA381551961 | AIP | c.765G>T c.598+1G>T (n.598+1G>T) n.1300G>T c.469-539G>T (n.469-539G>T) c.418+1G>T (n.418+1G>T) c.787+1G>T (n.787+1G>T) c.779+9G>T (n.779+9G>T) c.610+1G>T (n.610+1G>T) c.607+1G>T (n.607+1G>T) c.440G>T (p.Gly147Val) | |
11 | g.67490459T>A | CA381551963 | AIP | c.766T>A c.598+2T>A (n.598+2T>A) n.1301T>A c.469-538T>A (n.469-538T>A) c.418+2T>A (n.418+2T>A) c.787+2T>A (n.787+2T>A) c.779+10T>A (n.779+10T>A) c.610+2T>A (n.610+2T>A) c.607+2T>A (n.607+2T>A) c.441T>A (p.Gly147=) | |
11 | g.67490459T>C | CA381551965 | AIP | c.766T>C c.598+2T>C (n.598+2T>C) n.1301T>C c.469-538T>C (n.469-538T>C) c.418+2T>C (n.418+2T>C) c.787+2T>C (n.787+2T>C) c.779+10T>C (n.779+10T>C) c.610+2T>C (n.610+2T>C) c.607+2T>C (n.607+2T>C) c.441T>C (p.Gly147=) | |
11 | g.67490459T>G | CA381551964 | AIP | c.766T>G c.598+2T>G (n.598+2T>G) n.1301T>G c.469-538T>G (n.469-538T>G) c.418+2T>G (n.418+2T>G) c.787+2T>G (n.787+2T>G) c.779+10T>G (n.779+10T>G) c.610+2T>G (n.610+2T>G) c.607+2T>G (n.607+2T>G) c.441T>G (p.Gly147=) | |
11 | g.67490460G>A | CA381551966 | AIP | c.767G>A c.598+3G>A (n.598+3G>A) n.1302G>A c.469-537G>A (n.469-537G>A) c.418+3G>A (n.418+3G>A) c.787+3G>A (n.787+3G>A) c.779+11G>A (n.779+11G>A) c.610+3G>A (n.610+3G>A) c.607+3G>A (n.607+3G>A) c.442G>A (p.Glu148Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490460G>C | CA381551967 | AIP | c.767G>C c.598+3G>C (n.598+3G>C) n.1302G>C c.469-537G>C (n.469-537G>C) c.418+3G>C (n.418+3G>C) c.787+3G>C (n.787+3G>C) c.779+11G>C (n.779+11G>C) c.610+3G>C (n.610+3G>C) c.607+3G>C (n.607+3G>C) c.442G>C (p.Glu148Gln) | |
11 | g.67490460G= | CA1980172476 | AIP | c.767G= c.598+3G= (n.598+3G=) n.1302G= c.469-537G= (n.469-537G=) c.418+3G= (n.418+3G=) c.787+3G= (n.787+3G=) c.779+11G= (n.779+11G=) c.610+3G= (n.610+3G=) c.607+3G= (n.607+3G=) c.442G= (p.Glu148=) | |
11 | g.67490460G>T | CA381551968 | AIP | c.767G>T c.598+3G>T (n.598+3G>T) n.1302G>T c.469-537G>T (n.469-537G>T) c.418+3G>T (n.418+3G>T) c.787+3G>T (n.787+3G>T) c.779+11G>T (n.779+11G>T) c.610+3G>T (n.610+3G>T) c.607+3G>T (n.607+3G>T) c.442G>T (p.Glu148Ter) | gnomAD v4 |
11 | g.67490461A= | CA1980172477 | AIP | c.768A= c.598+4A= (n.598+4A=) n.1303A= c.469-536A= (n.469-536A=) c.418+4A= (n.418+4A=) c.787+4A= (n.787+4A=) c.779+12A= (n.779+12A=) c.610+4A= (n.610+4A=) c.607+4A= (n.607+4A=) c.443A= (p.Glu148=) | |
11 | g.67490461A>C | CA381551969 | AIP | c.768A>C c.598+4A>C (n.598+4A>C) n.1303A>C c.469-536A>C (n.469-536A>C) c.418+4A>C (n.418+4A>C) c.787+4A>C (n.787+4A>C) c.779+12A>C (n.779+12A>C) c.610+4A>C (n.610+4A>C) c.607+4A>C (n.607+4A>C) c.443A>C (p.Glu148Ala) | |
11 | g.67490461A>G | CA224165478 | AIP | c.768A>G c.598+4A>G (n.598+4A>G) n.1303A>G c.469-536A>G (n.469-536A>G) c.418+4A>G (n.418+4A>G) c.787+4A>G (n.787+4A>G) c.779+12A>G (n.779+12A>G) c.610+4A>G (n.610+4A>G) c.607+4A>G (n.607+4A>G) c.443A>G (p.Glu148Gly) | dbSNP |
11 | g.67490461A>T | CA381551970 | AIP | c.768A>T c.598+4A>T (n.598+4A>T) n.1303A>T c.469-536A>T (n.469-536A>T) c.418+4A>T (n.418+4A>T) c.787+4A>T (n.787+4A>T) c.779+12A>T (n.779+12A>T) c.610+4A>T (n.610+4A>T) c.607+4A>T (n.607+4A>T) c.443A>T (p.Glu148Val) | |
11 | g.67490462G>A | CA939069826 | AIP | c.769G>A c.598+5G>A (n.598+5G>A) n.1304G>A c.469-535G>A (n.469-535G>A) c.418+5G>A (n.418+5G>A) c.787+5G>A (n.787+5G>A) c.779+13G>A (n.779+13G>A) c.610+5G>A (n.610+5G>A) c.607+5G>A (n.607+5G>A) c.444G>A (p.Glu148=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490462G>C | CA381551971 | AIP | c.769G>C c.598+5G>C (n.598+5G>C) n.1304G>C c.469-535G>C (n.469-535G>C) c.418+5G>C (n.418+5G>C) c.787+5G>C (n.787+5G>C) c.779+13G>C (n.779+13G>C) c.610+5G>C (n.610+5G>C) c.607+5G>C (n.607+5G>C) c.444G>C (p.Glu148Asp) | |
11 | g.67490462G= | CA1980172478 | AIP | c.769G= c.598+5G= (n.598+5G=) n.1304G= c.469-535G= (n.469-535G=) c.418+5G= (n.418+5G=) c.787+5G= (n.787+5G=) c.779+13G= (n.779+13G=) c.610+5G= (n.610+5G=) c.607+5G= (n.607+5G=) c.444G= (p.Glu148=) | |
11 | g.67490462G>T | CA381551972 | AIP | c.769G>T c.598+5G>T (n.598+5G>T) n.1304G>T c.469-535G>T (n.469-535G>T) c.418+5G>T (n.418+5G>T) c.787+5G>T (n.787+5G>T) c.779+13G>T (n.779+13G>T) c.610+5G>T (n.610+5G>T) c.607+5G>T (n.607+5G>T) c.444G>T (p.Glu148Asp) | gnomAD v4 |
11 | g.67490463C>A | CA381551973 | AIP | c.770C>A c.598+6C>A (n.598+6C>A) n.1305C>A c.469-534C>A (n.469-534C>A) c.418+6C>A (n.418+6C>A) c.787+6C>A (n.787+6C>A) c.779+14C>A (n.779+14C>A) c.610+6C>A (n.610+6C>A) c.607+6C>A (n.607+6C>A) c.445C>A (p.His149Asn) | |
11 | g.67490463C>G | CA381551974 | AIP | c.770C>G c.598+6C>G (n.598+6C>G) n.1305C>G c.469-534C>G (n.469-534C>G) c.418+6C>G (n.418+6C>G) c.787+6C>G (n.787+6C>G) c.779+14C>G (n.779+14C>G) c.610+6C>G (n.610+6C>G) c.607+6C>G (n.607+6C>G) c.445C>G (p.His149Asp) | |
11 | g.67490463C>T | CA381551975 | AIP | c.770C>T c.598+6C>T (n.598+6C>T) n.1305C>T c.469-534C>T (n.469-534C>T) c.418+6C>T (n.418+6C>T) c.787+6C>T (n.787+6C>T) c.779+14C>T (n.779+14C>T) c.610+6C>T (n.610+6C>T) c.607+6C>T (n.607+6C>T) c.445C>T (p.His149Tyr) | gnomAD v4 |
11 | g.67490464A>C | CA381551982 | AIP | c.771A>C c.598+7A>C (n.598+7A>C) n.1306A>C c.469-533A>C (n.469-533A>C) c.418+7A>C (n.418+7A>C) c.787+7A>C (n.787+7A>C) c.779+15A>C (n.779+15A>C) c.610+7A>C (n.610+7A>C) c.607+7A>C (n.607+7A>C) c.446A>C (p.His149Pro) | |
11 | g.67490464A>G | CA381551978 | AIP | c.771A>G c.598+7A>G (n.598+7A>G) n.1306A>G c.469-533A>G (n.469-533A>G) c.418+7A>G (n.418+7A>G) c.787+7A>G (n.787+7A>G) c.779+15A>G (n.779+15A>G) c.610+7A>G (n.610+7A>G) c.607+7A>G (n.607+7A>G) c.446A>G (p.His149Arg) | |
11 | g.67490464A>T | CA381551980 | AIP | c.771A>T c.598+7A>T (n.598+7A>T) n.1306A>T c.469-533A>T (n.469-533A>T) c.418+7A>T (n.418+7A>T) c.787+7A>T (n.787+7A>T) c.779+15A>T (n.779+15A>T) c.610+7A>T (n.610+7A>T) c.607+7A>T (n.607+7A>T) c.446A>T (p.His149Leu) | |
11 | g.67490465C>A | CA381551985 | AIP | c.772C>A c.598+8C>A (n.598+8C>A) n.1307C>A c.469-532C>A (n.469-532C>A) c.418+8C>A (n.418+8C>A) c.787+8C>A (n.787+8C>A) c.779+16C>A (n.779+16C>A) c.610+8C>A (n.610+8C>A) c.607+8C>A (n.607+8C>A) c.447C>A (p.His149Gln) | |
11 | g.67490465C>G | CA381551986 | AIP | c.772C>G c.598+8C>G (n.598+8C>G) n.1307C>G c.469-532C>G (n.469-532C>G) c.418+8C>G (n.418+8C>G) c.787+8C>G (n.787+8C>G) c.779+16C>G (n.779+16C>G) c.610+8C>G (n.610+8C>G) c.607+8C>G (n.607+8C>G) c.447C>G (p.His149Gln) | |
11 | g.67490465C>T | CA2841989124 | AIP | c.772C>T c.598+8C>T (n.598+8C>T) n.1307C>T c.469-532C>T (n.469-532C>T) c.418+8C>T (n.418+8C>T) c.787+8C>T (n.787+8C>T) c.779+16C>T (n.779+16C>T) c.610+8C>T (n.610+8C>T) c.607+8C>T (n.607+8C>T) c.447C>T (p.His149=) | |
11 | g.67490466C>A | CA2574896292 | AIP | c.773C>A c.598+9C>A (n.598+9C>A) n.1308C>A c.469-531C>A (n.469-531C>A) c.418+9C>A (n.418+9C>A) c.787+9C>A (n.787+9C>A) c.779+17C>A (n.779+17C>A) c.610+9C>A (n.610+9C>A) c.607+9C>A (n.607+9C>A) c.448C>A (p.Arg150=) | gnomAD v4 |
11 | g.67490466C= | CA1980172479 | AIP | c.773C= c.598+9C= (n.598+9C=) n.1308C= c.469-531C= (n.469-531C=) c.418+9C= (n.418+9C=) c.787+9C= (n.787+9C=) c.779+17C= (n.779+17C=) c.610+9C= (n.610+9C=) c.607+9C= (n.607+9C=) c.448C= (p.Arg150=) | |
11 | g.67490466C>G | CA381551989 | AIP | c.773C>G c.598+9C>G (n.598+9C>G) n.1308C>G c.469-531C>G (n.469-531C>G) c.418+9C>G (n.418+9C>G) c.787+9C>G (n.787+9C>G) c.779+17C>G (n.779+17C>G) c.610+9C>G (n.610+9C>G) c.607+9C>G (n.607+9C>G) c.448C>G (p.Arg150Gly) | |
11 | g.67490466C>T | CA6140938 | AIP | c.773C>T c.598+9C>T (n.598+9C>T) n.1308C>T c.469-531C>T (n.469-531C>T) c.418+9C>T (n.418+9C>T) c.787+9C>T (n.787+9C>T) c.779+17C>T (n.779+17C>T) c.610+9C>T (n.610+9C>T) c.607+9C>T (n.607+9C>T) c.448C>T (p.Arg150Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490467G>A | CA381551994 | AIP | c.774G>A c.598+10G>A (n.598+10G>A) n.1309G>A c.469-530G>A (n.469-530G>A) c.418+10G>A (n.418+10G>A) c.787+10G>A (n.787+10G>A) c.779+18G>A (n.779+18G>A) c.610+10G>A (n.610+10G>A) c.607+10G>A (n.607+10G>A) c.449G>A (p.Arg150Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490467G>C | CA6140939 | AIP | c.774G>C c.598+10G>C (n.598+10G>C) n.1309G>C c.469-530G>C (n.469-530G>C) c.418+10G>C (n.418+10G>C) c.787+10G>C (n.787+10G>C) c.779+18G>C (n.779+18G>C) c.610+10G>C (n.610+10G>C) c.607+10G>C (n.607+10G>C) c.449G>C (p.Arg150Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490467G= | CA1980172480 | AIP | c.774G= c.598+10G= (n.598+10G=) n.1309G= c.469-530G= (n.469-530G=) c.418+10G= (n.418+10G=) c.787+10G= (n.787+10G=) c.779+18G= (n.779+18G=) c.610+10G= (n.610+10G=) c.607+10G= (n.607+10G=) c.449G= (p.Arg150=) | |
11 | g.67490467G>T | CA381551997 | AIP | c.774G>T c.598+10G>T (n.598+10G>T) n.1309G>T c.469-530G>T (n.469-530G>T) c.418+10G>T (n.418+10G>T) c.787+10G>T (n.787+10G>T) c.779+18G>T (n.779+18G>T) c.610+10G>T (n.610+10G>T) c.607+10G>T (n.607+10G>T) c.449G>T (p.Arg150Leu) | gnomAD v4 |