Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72230375_72230423delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAGCA1981898045INPPL1c.1104_1152delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile368=)
c.378_426delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile126=)
c.288_336delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile96=)
c.906_954delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile302=)
c.1170_1218delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile390=)
c.1140_1188delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile380=)
11g.72230379_72230426delCA891862927INPPL1c.1108_1155del (p.Ser370_Lys385del)
c.382_429del (p.Ser128_Lys143del)
c.292_339del (p.Ser98_Lys113del)
c.910_957del (p.Ser304_Lys319del)
c.1174_1221del (p.Ser392_Lys407del)
c.1144_1191del (p.Ser382_Lys397del)
ClinVar dbSNP
11g.72230393G>ACA475865903INPPL1c.1122G>A (p.Gln374=)
c.396G>A (p.Gln132=)
c.306G>A (p.Gln102=)
c.924G>A (p.Gln308=)
c.1188G>A (p.Gln396=)
c.1158G>A (p.Gln386=)
11g.72230393G>CCA381725163INPPL1c.1122G>C (p.Gln374His)
c.396G>C (p.Gln132His)
c.306G>C (p.Gln102His)
c.924G>C (p.Gln308His)
c.1188G>C (p.Gln396His)
c.1158G>C (p.Gln386His)
11g.72230393G>TCA381725165INPPL1c.1122G>T (p.Gln374His)
c.396G>T (p.Gln132His)
c.306G>T (p.Gln102His)
c.924G>T (p.Gln308His)
c.1188G>T (p.Gln396His)
c.1158G>T (p.Gln386His)
11g.72230394A=CA1981898054INPPL1c.1123A= (p.Asn375=)
c.397A= (p.Asn133=)
c.307A= (p.Asn103=)
c.925A= (p.Asn309=)
c.1189A= (p.Asn397=)
c.1159A= (p.Asn387=)
11g.72230394A>CCA381725166INPPL1c.1123A>C (p.Asn375His)
c.397A>C (p.Asn133His)
c.307A>C (p.Asn103His)
c.925A>C (p.Asn309His)
c.1189A>C (p.Asn397His)
c.1159A>C (p.Asn387His)
11g.72230394A>GCA381725167INPPL1c.1123A>G (p.Asn375Asp)
c.397A>G (p.Asn133Asp)
c.307A>G (p.Asn103Asp)
c.925A>G (p.Asn309Asp)
c.1189A>G (p.Asn397Asp)
c.1159A>G (p.Asn387Asp)
dbSNP
11g.72230394A>TCA381725169INPPL1c.1123A>T (p.Asn375Tyr)
c.397A>T (p.Asn133Tyr)
c.307A>T (p.Asn103Tyr)
c.925A>T (p.Asn309Tyr)
c.1189A>T (p.Asn397Tyr)
c.1159A>T (p.Asn387Tyr)
11g.72230395A=CA1981898055INPPL1c.1124A= (p.Asn375=)
c.398A= (p.Asn133=)
c.308A= (p.Asn103=)
c.926A= (p.Asn309=)
c.1190A= (p.Asn397=)
c.1160A= (p.Asn387=)
11g.72230395A>CCA381725172INPPL1c.1124A>C (p.Asn375Thr)
c.398A>C (p.Asn133Thr)
c.308A>C (p.Asn103Thr)
c.926A>C (p.Asn309Thr)
c.1190A>C (p.Asn397Thr)
c.1160A>C (p.Asn387Thr)
11g.72230395A>GCA6169918INPPL1c.1124A>G (p.Asn375Ser)
c.398A>G (p.Asn133Ser)
c.308A>G (p.Asn103Ser)
c.926A>G (p.Asn309Ser)
c.1190A>G (p.Asn397Ser)
c.1160A>G (p.Asn387Ser)
dbSNP ExAC gnomAD v2
11g.72230395A>TCA381725170INPPL1c.1124A>T (p.Asn375Ile)
c.398A>T (p.Asn133Ile)
c.308A>T (p.Asn103Ile)
c.926A>T (p.Asn309Ile)
c.1190A>T (p.Asn397Ile)
c.1160A>T (p.Asn387Ile)
11g.72230396C>ACA381725173INPPL1c.1125C>A (p.Asn375Lys)
c.399C>A (p.Asn133Lys)
c.309C>A (p.Asn103Lys)
c.927C>A (p.Asn309Lys)
c.1191C>A (p.Asn397Lys)
c.1161C>A (p.Asn387Lys)
11g.72230396C>GCA381725175INPPL1c.1125C>G (p.Asn375Lys)
c.399C>G (p.Asn133Lys)
c.309C>G (p.Asn103Lys)
c.927C>G (p.Asn309Lys)
c.1191C>G (p.Asn397Lys)
c.1161C>G (p.Asn387Lys)
11g.72230396C>TCA475865904INPPL1c.1125C>T (p.Asn375=)
c.399C>T (p.Asn133=)
c.309C>T (p.Asn103=)
c.927C>T (p.Asn309=)
c.1191C>T (p.Asn397=)
c.1161C>T (p.Asn387=)
11g.72230397A>CCA381725177INPPL1c.1126A>C (p.Lys376Gln)
c.400A>C (p.Lys134Gln)
c.310A>C (p.Lys104Gln)
c.928A>C (p.Lys310Gln)
c.1192A>C (p.Lys398Gln)
c.1162A>C (p.Lys388Gln)
11g.72230397A>GCA381725179INPPL1c.1126A>G (p.Lys376Glu)
c.400A>G (p.Lys134Glu)
c.310A>G (p.Lys104Glu)
c.928A>G (p.Lys310Glu)
c.1192A>G (p.Lys398Glu)
c.1162A>G (p.Lys388Glu)
11g.72230397A>TCA381725180INPPL1c.1126A>T (p.Lys376Ter)
c.400A>T (p.Lys134Ter)
c.310A>T (p.Lys104Ter)
c.928A>T (p.Lys310Ter)
c.1192A>T (p.Lys398Ter)
c.1162A>T (p.Lys388Ter)
11g.72230398A>CCA381725183INPPL1c.1127A>C (p.Lys376Thr)
c.401A>C (p.Lys134Thr)
c.311A>C (p.Lys104Thr)
c.929A>C (p.Lys310Thr)
c.1193A>C (p.Lys398Thr)
c.1163A>C (p.Lys388Thr)
11g.72230398A>GCA381725184INPPL1c.1127A>G (p.Lys376Arg)
c.401A>G (p.Lys134Arg)
c.311A>G (p.Lys104Arg)
c.929A>G (p.Lys310Arg)
c.1193A>G (p.Lys398Arg)
c.1163A>G (p.Lys388Arg)
11g.72230398A>TCA381725186INPPL1c.1127A>T (p.Lys376Met)
c.401A>T (p.Lys134Met)
c.311A>T (p.Lys104Met)
c.929A>T (p.Lys310Met)
c.1193A>T (p.Lys398Met)
c.1163A>T (p.Lys388Met)
11g.72230399G>ACA475865905INPPL1c.1128G>A (p.Lys376=)
c.402G>A (p.Lys134=)
c.312G>A (p.Lys104=)
c.930G>A (p.Lys310=)
c.1194G>A (p.Lys398=)
c.1164G>A (p.Lys388=)
11g.72230399G>CCA381725188INPPL1c.1128G>C (p.Lys376Asn)
c.402G>C (p.Lys134Asn)
c.312G>C (p.Lys104Asn)
c.930G>C (p.Lys310Asn)
c.1194G>C (p.Lys398Asn)
c.1164G>C (p.Lys388Asn)
dbSNP gnomAD v4
11g.72230399G=CA1981898056INPPL1c.1128G= (p.Lys376=)
c.402G= (p.Lys134=)
c.312G= (p.Lys104=)
c.930G= (p.Lys310=)
c.1194G= (p.Lys398=)
c.1164G= (p.Lys388=)
11g.72230399G>TCA381725189INPPL1c.1128G>T (p.Lys376Asn)
c.402G>T (p.Lys134Asn)
c.312G>T (p.Lys104Asn)
c.930G>T (p.Lys310Asn)
c.1194G>T (p.Lys398Asn)
c.1164G>T (p.Lys388Asn)
dbSNP gnomAD v2 gnomAD v4
11g.72230400C>ACA381725191INPPL1c.1129C>A (p.Leu377Met)
c.403C>A (p.Leu135Met)
c.313C>A (p.Leu105Met)
c.931C>A (p.Leu311Met)
c.1195C>A (p.Leu399Met)
c.1165C>A (p.Leu389Met)
11g.72230400C=CA1981898057INPPL1c.1129C= (p.Leu377=)
c.403C= (p.Leu135=)
c.313C= (p.Leu105=)
c.931C= (p.Leu311=)
c.1195C= (p.Leu399=)
c.1165C= (p.Leu389=)
11g.72230400C>GCA381725193INPPL1c.1129C>G (p.Leu377Val)
c.403C>G (p.Leu135Val)
c.313C>G (p.Leu105Val)
c.931C>G (p.Leu311Val)
c.1195C>G (p.Leu399Val)
c.1165C>G (p.Leu389Val)
11g.72230400C>TCA475865906INPPL1c.1129C>T (p.Leu377=)
c.403C>T (p.Leu135=)
c.313C>T (p.Leu105=)
c.931C>T (p.Leu311=)
c.1195C>T (p.Leu399=)
c.1165C>T (p.Leu389=)
dbSNP gnomAD v3 gnomAD v4
11g.72230401T>ACA381725197INPPL1c.1130T>A (p.Leu377Gln)
c.404T>A (p.Leu135Gln)
c.314T>A (p.Leu105Gln)
c.932T>A (p.Leu311Gln)
c.1196T>A (p.Leu399Gln)
c.1166T>A (p.Leu389Gln)
11g.72230401T>CCA381725196INPPL1c.1130T>C (p.Leu377Pro)
c.404T>C (p.Leu135Pro)
c.314T>C (p.Leu105Pro)
c.932T>C (p.Leu311Pro)
c.1196T>C (p.Leu399Pro)
c.1166T>C (p.Leu389Pro)
11g.72230401T>GCA381725195INPPL1c.1130T>G (p.Leu377Arg)
c.404T>G (p.Leu135Arg)
c.314T>G (p.Leu105Arg)
c.932T>G (p.Leu311Arg)
c.1196T>G (p.Leu399Arg)
c.1166T>G (p.Leu389Arg)
11g.72230402G>ACA475865907INPPL1c.1131G>A (p.Leu377=)
c.405G>A (p.Leu135=)
c.315G>A (p.Leu105=)
c.933G>A (p.Leu311=)
c.1197G>A (p.Leu399=)
c.1167G>A (p.Leu389=)
gnomAD v4
11g.72230402G>CCA475865908INPPL1c.1131G>C (p.Leu377=)
c.405G>C (p.Leu135=)
c.315G>C (p.Leu105=)
c.933G>C (p.Leu311=)
c.1197G>C (p.Leu399=)
c.1167G>C (p.Leu389=)
11g.72230402G>TCA475865909INPPL1c.1131G>T (p.Leu377=)
c.405G>T (p.Leu135=)
c.315G>T (p.Leu105=)
c.933G>T (p.Leu311=)
c.1197G>T (p.Leu399=)
c.1167G>T (p.Leu389=)
gnomAD v4
11g.72230403G>ACA381725200INPPL1c.1132G>A (p.Gly378Ser)
c.406G>A (p.Gly136Ser)
c.316G>A (p.Gly106Ser)
c.934G>A (p.Gly312Ser)
c.1198G>A (p.Gly400Ser)
c.1168G>A (p.Gly390Ser)
gnomAD v4
11g.72230403G>CCA381725198INPPL1c.1132G>C (p.Gly378Arg)
c.406G>C (p.Gly136Arg)
c.316G>C (p.Gly106Arg)
c.934G>C (p.Gly312Arg)
c.1198G>C (p.Gly400Arg)
c.1168G>C (p.Gly390Arg)
11g.72230403G>TCA381725199INPPL1c.1132G>T (p.Gly378Cys)
c.406G>T (p.Gly136Cys)
c.316G>T (p.Gly106Cys)
c.934G>T (p.Gly312Cys)
c.1198G>T (p.Gly400Cys)
c.1168G>T (p.Gly390Cys)
11g.72230404G>ACA381725203INPPL1c.1133G>A (p.Gly378Asp)
c.407G>A (p.Gly136Asp)
c.317G>A (p.Gly106Asp)
c.935G>A (p.Gly312Asp)
c.1199G>A (p.Gly400Asp)
c.1169G>A (p.Gly390Asp)
dbSNP gnomAD v2 COSMIC
11g.72230404G>CCA381725204INPPL1c.1133G>C (p.Gly378Ala)
c.407G>C (p.Gly136Ala)
c.317G>C (p.Gly106Ala)
c.935G>C (p.Gly312Ala)
c.1199G>C (p.Gly400Ala)
c.1169G>C (p.Gly390Ala)
11g.72230404G=CA1981898058INPPL1c.1133G= (p.Gly378=)
c.407G= (p.Gly136=)
c.317G= (p.Gly106=)
c.935G= (p.Gly312=)
c.1199G= (p.Gly400=)
c.1169G= (p.Gly390=)
11g.72230404G>TCA381725206INPPL1c.1133G>T (p.Gly378Val)
c.407G>T (p.Gly136Val)
c.317G>T (p.Gly106Val)
c.935G>T (p.Gly312Val)
c.1199G>T (p.Gly400Val)
c.1169G>T (p.Gly390Val)
11g.72230405T>ACA475865911INPPL1c.1134T>A (p.Gly378=)
c.408T>A (p.Gly136=)
c.318T>A (p.Gly106=)
c.936T>A (p.Gly312=)
c.1200T>A (p.Gly400=)
c.1170T>A (p.Gly390=)
11g.72230405T>CCA475865910INPPL1c.1134T>C (p.Gly378=)
c.408T>C (p.Gly136=)
c.318T>C (p.Gly106=)
c.936T>C (p.Gly312=)
c.1200T>C (p.Gly400=)
c.1170T>C (p.Gly390=)
11g.72230405T>GCA6169919INPPL1c.1134T>G (p.Gly378=)
c.408T>G (p.Gly136=)
c.318T>G (p.Gly106=)
c.936T>G (p.Gly312=)
c.1200T>G (p.Gly400=)
c.1170T>G (p.Gly390=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230405T=CA1981898059INPPL1c.1134T= (p.Gly378=)
c.408T= (p.Gly136=)
c.318T= (p.Gly106=)
c.936T= (p.Gly312=)
c.1200T= (p.Gly400=)
c.1170T= (p.Gly390=)
11g.72230406G>ACA381725209INPPL1c.1135G>A (p.Val379Ile)
c.409G>A (p.Val137Ile)
c.319G>A (p.Val107Ile)
c.937G>A (p.Val313Ile)
c.1201G>A (p.Val401Ile)
c.1171G>A (p.Val391Ile)
gnomAD v4
11g.72230406G>CCA381725211INPPL1c.1135G>C (p.Val379Leu)
c.409G>C (p.Val137Leu)
c.319G>C (p.Val107Leu)
c.937G>C (p.Val313Leu)
c.1201G>C (p.Val401Leu)
c.1171G>C (p.Val391Leu)
11g.72230406G>TCA381725213INPPL1c.1135G>T (p.Val379Phe)
c.409G>T (p.Val137Phe)
c.319G>T (p.Val107Phe)
c.937G>T (p.Val313Phe)
c.1201G>T (p.Val401Phe)
c.1171G>T (p.Val391Phe)
11g.72230407T>ACA381725217INPPL1c.1136T>A (p.Val379Asp)
c.410T>A (p.Val137Asp)
c.320T>A (p.Val107Asp)
c.938T>A (p.Val313Asp)
c.1202T>A (p.Val401Asp)
c.1172T>A (p.Val391Asp)
11g.72230407T>CCA381725218INPPL1c.1136T>C (p.Val379Ala)
c.410T>C (p.Val137Ala)
c.320T>C (p.Val107Ala)
c.938T>C (p.Val313Ala)
c.1202T>C (p.Val401Ala)
c.1172T>C (p.Val391Ala)
dbSNP gnomAD v2 gnomAD v4
11g.72230407T>GCA381725221INPPL1c.1136T>G (p.Val379Gly)
c.410T>G (p.Val137Gly)
c.320T>G (p.Val107Gly)
c.938T>G (p.Val313Gly)
c.1202T>G (p.Val401Gly)
c.1172T>G (p.Val391Gly)
11g.72230407T=CA1981898060INPPL1c.1136T= (p.Val379=)
c.410T= (p.Val137=)
c.320T= (p.Val107=)
c.938T= (p.Val313=)
c.1202T= (p.Val401=)
c.1172T= (p.Val391=)
11g.72230408T>ACA475865912INPPL1c.1137T>A (p.Val379=)
c.411T>A (p.Val137=)
c.321T>A (p.Val107=)
c.939T>A (p.Val313=)
c.1203T>A (p.Val401=)
c.1173T>A (p.Val391=)
11g.72230408T>CCA475865913INPPL1c.1137T>C (p.Val379=)
c.411T>C (p.Val137=)
c.321T>C (p.Val107=)
c.939T>C (p.Val313=)
c.1203T>C (p.Val401=)
c.1173T>C (p.Val391=)
11g.72230408T>GCA475865914INPPL1c.1137T>G (p.Val379=)
c.411T>G (p.Val137=)
c.321T>G (p.Val107=)
c.939T>G (p.Val313=)
c.1203T>G (p.Val401=)
c.1173T>G (p.Val391=)
11g.72230409G>ACA6169920INPPL1c.1138G>A (p.Val380Met)
c.412G>A (p.Val138Met)
c.322G>A (p.Val108Met)
c.940G>A (p.Val314Met)
c.1204G>A (p.Val402Met)
c.1174G>A (p.Val392Met)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230409G>CCA381725227INPPL1c.1138G>C (p.Val380Leu)
c.412G>C (p.Val138Leu)
c.322G>C (p.Val108Leu)
c.940G>C (p.Val314Leu)
c.1204G>C (p.Val402Leu)
c.1174G>C (p.Val392Leu)
11g.72230409G=CA1981898061INPPL1c.1138G= (p.Val380=)
c.412G= (p.Val138=)
c.322G= (p.Val108=)
c.940G= (p.Val314=)
c.1204G= (p.Val402=)
c.1174G= (p.Val392=)
11g.72230409G>TCA381725224INPPL1c.1138G>T (p.Val380Leu)
c.412G>T (p.Val138Leu)
c.322G>T (p.Val108Leu)
c.940G>T (p.Val314Leu)
c.1204G>T (p.Val402Leu)
c.1174G>T (p.Val392Leu)
11g.72230410T>ACA381725231INPPL1c.1139T>A (p.Val380Glu)
c.413T>A (p.Val138Glu)
c.323T>A (p.Val108Glu)
c.941T>A (p.Val314Glu)
c.1205T>A (p.Val402Glu)
c.1175T>A (p.Val392Glu)
11g.72230410T>CCA381725234INPPL1c.1139T>C (p.Val380Ala)
c.413T>C (p.Val138Ala)
c.323T>C (p.Val108Ala)
c.941T>C (p.Val314Ala)
c.1205T>C (p.Val402Ala)
c.1175T>C (p.Val392Ala)
dbSNP gnomAD v4
11g.72230410T>GCA381725236INPPL1c.1139T>G (p.Val380Gly)
c.413T>G (p.Val138Gly)
c.323T>G (p.Val108Gly)
c.941T>G (p.Val314Gly)
c.1205T>G (p.Val402Gly)
c.1175T>G (p.Val392Gly)
gnomAD v4
11g.72230410T=CA1981898062INPPL1c.1139T= (p.Val380=)
c.413T= (p.Val138=)
c.323T= (p.Val108=)
c.941T= (p.Val314=)
c.1205T= (p.Val402=)
c.1175T= (p.Val392=)
11g.72230411G>ACA475865915INPPL1c.1140G>A (p.Val380=)
c.414G>A (p.Val138=)
c.324G>A (p.Val108=)
c.942G>A (p.Val314=)
c.1206G>A (p.Val402=)
c.1176G>A (p.Val392=)
dbSNP
11g.72230411G>CCA475865917INPPL1c.1140G>C (p.Val380=)
c.414G>C (p.Val138=)
c.324G>C (p.Val108=)
c.942G>C (p.Val314=)
c.1206G>C (p.Val402=)
c.1176G>C (p.Val392=)
11g.72230411G=CA1981898063INPPL1c.1140G= (p.Val380=)
c.414G= (p.Val138=)
c.324G= (p.Val108=)
c.942G= (p.Val314=)
c.1206G= (p.Val402=)
c.1176G= (p.Val392=)
11g.72230411G>TCA475865916INPPL1c.1140G>T (p.Val380=)
c.414G>T (p.Val138=)
c.324G>T (p.Val108=)
c.942G>T (p.Val314=)
c.1206G>T (p.Val402=)
c.1176G>T (p.Val392=)
11g.72230412T>ACA381725238INPPL1c.1141T>A (p.Phe381Ile)
c.415T>A (p.Phe139Ile)
c.325T>A (p.Phe109Ile)
c.943T>A (p.Phe315Ile)
c.1207T>A (p.Phe403Ile)
c.1177T>A (p.Phe393Ile)
COSMIC
11g.72230412T>CCA381725240INPPL1c.1141T>C (p.Phe381Leu)
c.415T>C (p.Phe139Leu)
c.325T>C (p.Phe109Leu)
c.943T>C (p.Phe315Leu)
c.1207T>C (p.Phe403Leu)
c.1177T>C (p.Phe393Leu)
dbSNP gnomAD v4
11g.72230412T>GCA381725243INPPL1c.1141T>G (p.Phe381Val)
c.415T>G (p.Phe139Val)
c.325T>G (p.Phe109Val)
c.943T>G (p.Phe315Val)
c.1207T>G (p.Phe403Val)
c.1177T>G (p.Phe393Val)
11g.72230412T=CA1981898064INPPL1c.1141T= (p.Phe381=)
c.415T= (p.Phe139=)
c.325T= (p.Phe109=)
c.943T= (p.Phe315=)
c.1207T= (p.Phe403=)
c.1177T= (p.Phe393=)
11g.72230413T>ACA381725245INPPL1c.1142T>A (p.Phe381Tyr)
c.416T>A (p.Phe139Tyr)
c.326T>A (p.Phe109Tyr)
c.944T>A (p.Phe315Tyr)
c.1208T>A (p.Phe403Tyr)
c.1178T>A (p.Phe393Tyr)
11g.72230413T>CCA381725249INPPL1c.1142T>C (p.Phe381Ser)
c.416T>C (p.Phe139Ser)
c.326T>C (p.Phe109Ser)
c.944T>C (p.Phe315Ser)
c.1208T>C (p.Phe403Ser)
c.1178T>C (p.Phe393Ser)
gnomAD v4
11g.72230413T>GCA381725248INPPL1c.1142T>G (p.Phe381Cys)
c.416T>G (p.Phe139Cys)
c.326T>G (p.Phe109Cys)
c.944T>G (p.Phe315Cys)
c.1208T>G (p.Phe403Cys)
c.1178T>G (p.Phe393Cys)
11g.72230414T>ACA381725253INPPL1c.1143T>A (p.Phe381Leu)
c.417T>A (p.Phe139Leu)
c.327T>A (p.Phe109Leu)
c.945T>A (p.Phe315Leu)
c.1209T>A (p.Phe403Leu)
c.1179T>A (p.Phe393Leu)
11g.72230414T>CCA475865918INPPL1c.1143T>C (p.Phe381=)
c.417T>C (p.Phe139=)
c.327T>C (p.Phe109=)
c.945T>C (p.Phe315=)
c.1209T>C (p.Phe403=)
c.1179T>C (p.Phe393=)
11g.72230414T>GCA381725255INPPL1c.1143T>G (p.Phe381Leu)
c.417T>G (p.Phe139Leu)
c.327T>G (p.Phe109Leu)
c.945T>G (p.Phe315Leu)
c.1209T>G (p.Phe403Leu)
c.1179T>G (p.Phe393Leu)
gnomAD v4
11g.72230415G>ACA381725258INPPL1c.1144G>A (p.Glu382Lys)
c.418G>A (p.Glu140Lys)
c.328G>A (p.Glu110Lys)
c.946G>A (p.Glu316Lys)
c.1210G>A (p.Glu404Lys)
c.1180G>A (p.Glu394Lys)
11g.72230415G>CCA381725260INPPL1c.1144G>C (p.Glu382Gln)
c.418G>C (p.Glu140Gln)
c.328G>C (p.Glu110Gln)
c.946G>C (p.Glu316Gln)
c.1210G>C (p.Glu404Gln)
c.1180G>C (p.Glu394Gln)
11g.72230415G>TCA381725261INPPL1c.1144G>T (p.Glu382Ter)
c.418G>T (p.Glu140Ter)
c.328G>T (p.Glu110Ter)
c.946G>T (p.Glu316Ter)
c.1210G>T (p.Glu404Ter)
c.1180G>T (p.Glu394Ter)
11g.72230416A>CCA381725263INPPL1c.1145A>C (p.Glu382Ala)
c.419A>C (p.Glu140Ala)
c.329A>C (p.Glu110Ala)
c.947A>C (p.Glu316Ala)
c.1211A>C (p.Glu404Ala)
c.1181A>C (p.Glu394Ala)
11g.72230416A>GCA381725264INPPL1c.1145A>G (p.Glu382Gly)
c.419A>G (p.Glu140Gly)
c.329A>G (p.Glu110Gly)
c.947A>G (p.Glu316Gly)
c.1211A>G (p.Glu404Gly)
c.1181A>G (p.Glu394Gly)
11g.72230416A>TCA381725262INPPL1c.1145A>T (p.Glu382Val)
c.419A>T (p.Glu140Val)
c.329A>T (p.Glu110Val)
c.947A>T (p.Glu316Val)
c.1211A>T (p.Glu404Val)
c.1181A>T (p.Glu394Val)
11g.72230417G>ACA475865919INPPL1c.1146G>A (p.Glu382=)
c.420G>A (p.Glu140=)
c.330G>A (p.Glu110=)
c.948G>A (p.Glu316=)
c.1212G>A (p.Glu404=)
c.1182G>A (p.Glu394=)
11g.72230417G>CCA381725266INPPL1c.1146G>C (p.Glu382Asp)
c.420G>C (p.Glu140Asp)
c.330G>C (p.Glu110Asp)
c.948G>C (p.Glu316Asp)
c.1212G>C (p.Glu404Asp)
c.1182G>C (p.Glu394Asp)
11g.72230417G>TCA381725268INPPL1c.1146G>T (p.Glu382Asp)
c.420G>T (p.Glu140Asp)
c.330G>T (p.Glu110Asp)
c.948G>T (p.Glu316Asp)
c.1212G>T (p.Glu404Asp)
c.1182G>T (p.Glu394Asp)
11g.72230418A=CA1981898066INPPL1c.1147A= (p.Lys383=)
c.421A= (p.Lys141=)
c.331A= (p.Lys111=)
c.949A= (p.Lys317=)
c.1213A= (p.Lys405=)
c.1183A= (p.Lys395=)
11g.72230418A>CCA381725270INPPL1c.1147A>C (p.Lys383Gln)
c.421A>C (p.Lys141Gln)
c.331A>C (p.Lys111Gln)
c.949A>C (p.Lys317Gln)
c.1213A>C (p.Lys405Gln)
c.1183A>C (p.Lys395Gln)
11g.72230418A>GCA381725273INPPL1c.1147A>G (p.Lys383Glu)
c.421A>G (p.Lys141Glu)
c.331A>G (p.Lys111Glu)
c.949A>G (p.Lys317Glu)
c.1213A>G (p.Lys405Glu)
c.1183A>G (p.Lys395Glu)
dbSNP gnomAD v2 gnomAD v4
11g.72230418A>TCA381725282INPPL1c.1147A>T (p.Lys383Ter)
c.421A>T (p.Lys141Ter)
c.331A>T (p.Lys111Ter)
c.949A>T (p.Lys317Ter)
c.1213A>T (p.Lys405Ter)
c.1183A>T (p.Lys395Ter)
11g.72230418_72230421delinsAAGGCA1981898065INPPL1c.1147_1150delinsAAGG (p.Lys383=)
c.421_424delinsAAGG (p.Lys141=)
c.331_334delinsAAGG (p.Lys111=)
c.949_952delinsAAGG (p.Lys317=)
c.1213_1216delinsAAGG (p.Lys405=)
c.1183_1186delinsAAGG (p.Lys395=)
11g.72230419A>CCA381725285INPPL1c.1148A>C (p.Lys383Thr)
c.422A>C (p.Lys141Thr)
c.332A>C (p.Lys111Thr)
c.950A>C (p.Lys317Thr)
c.1214A>C (p.Lys405Thr)
c.1184A>C (p.Lys395Thr)
11g.72230419A>GCA381725288INPPL1c.1148A>G (p.Lys383Arg)
c.422A>G (p.Lys141Arg)
c.332A>G (p.Lys111Arg)
c.950A>G (p.Lys317Arg)
c.1214A>G (p.Lys405Arg)
c.1184A>G (p.Lys395Arg)
11g.72230419A>TCA381725290INPPL1c.1148A>T (p.Lys383Met)
c.422A>T (p.Lys141Met)
c.332A>T (p.Lys111Met)
c.950A>T (p.Lys317Met)
c.1214A>T (p.Lys405Met)
c.1184A>T (p.Lys395Met)
11g.72230419_72230420delinsAGCA1981898067INPPL1c.1148_1149delinsAG (p.Lys383=)
c.422_423delinsAG (p.Lys141=)
c.332_333delinsAG (p.Lys111=)
c.950_951delinsAG (p.Lys317=)
c.1214_1215delinsAG (p.Lys405=)
c.1184_1185delinsAG (p.Lys395=)
11g.72230421_72230423delCA600243022INPPL1c.1150_1152del (p.Glu384del)
c.424_426del (p.Glu142del)
c.334_336del (p.Glu112del)
c.952_954del (p.Glu318del)
c.1216_1218del (p.Glu406del)
c.1186_1188del (p.Glu396del)
dbSNP gnomAD v2 gnomAD v4
11g.72230420G>ACA475865920INPPL1c.1149G>A (p.Lys383=)
c.423G>A (p.Lys141=)
c.333G>A (p.Lys111=)
c.951G>A (p.Lys317=)
c.1215G>A (p.Lys405=)
c.1185G>A (p.Lys395=)
COSMIC
11g.72230420G>CCA381725293INPPL1c.1149G>C (p.Lys383Asn)
c.423G>C (p.Lys141Asn)
c.333G>C (p.Lys111Asn)
c.951G>C (p.Lys317Asn)
c.1215G>C (p.Lys405Asn)
c.1185G>C (p.Lys395Asn)
11g.72230420G>TCA381725295INPPL1c.1149G>T (p.Lys383Asn)
c.423G>T (p.Lys141Asn)
c.333G>T (p.Lys111Asn)
c.951G>T (p.Lys317Asn)
c.1215G>T (p.Lys405Asn)
c.1185G>T (p.Lys395Asn)
11g.72230421delCA679976948INPPL1c.1150del (p.Glu384ArgfsTer28)
c.424del (p.Glu142ArgfsTer28)
c.334del (p.Glu112ArgfsTer?)
c.952del (p.Glu318ArgfsTer28)
c.1216del (p.Glu406ArgfsTer28)
c.1186del (p.Glu396ArgfsTer28)
dbSNP gnomAD v3 gnomAD v4
11g.72230421G>ACA381725298INPPL1c.1150G>A (p.Glu384Lys)
c.424G>A (p.Glu142Lys)
c.334G>A (p.Glu112Lys)
c.952G>A (p.Glu318Lys)
c.1216G>A (p.Glu406Lys)
c.1186G>A (p.Glu396Lys)
11g.72230421G>CCA381725299INPPL1c.1150G>C (p.Glu384Gln)
c.424G>C (p.Glu142Gln)
c.334G>C (p.Glu112Gln)
c.952G>C (p.Glu318Gln)
c.1216G>C (p.Glu406Gln)
c.1186G>C (p.Glu396Gln)
11g.72230421G>TCA381725301INPPL1c.1150G>T (p.Glu384Ter)
c.424G>T (p.Glu142Ter)
c.334G>T (p.Glu112Ter)
c.952G>T (p.Glu318Ter)
c.1216G>T (p.Glu406Ter)
c.1186G>T (p.Glu396Ter)
11g.72230421_72230424delinsGAGACA1981898068INPPL1c.1150_1153delinsGAGA (p.Glu384=)
c.424_427delinsGAGA (p.Glu142=)
c.334_337delinsGAGA (p.Glu112=)
c.952_955delinsGAGA (p.Glu318=)
c.1216_1219delinsGAGA (p.Glu406=)
c.1186_1189delinsGAGA (p.Glu396=)
11g.72230423_72230424delCA2695214981INPPL1c.1152_1153del (p.Lys385GlyfsTer?)
c.426_427del (p.Lys143GlyfsTer?)
c.336_337del (p.Lys113GlyfsTer?)
c.954_955del (p.Lys319GlyfsTer?)
c.1218_1219del (p.Lys407GlyfsTer?)
c.1188_1189del (p.Lys397GlyfsTer?)
11g.72230422A>CCA381725307INPPL1c.1151A>C (p.Glu384Ala)
c.425A>C (p.Glu142Ala)
c.335A>C (p.Glu112Ala)
c.953A>C (p.Glu318Ala)
c.1217A>C (p.Glu406Ala)
c.1187A>C (p.Glu396Ala)
11g.72230422A>GCA381725305INPPL1c.1151A>G (p.Glu384Gly)
c.425A>G (p.Glu142Gly)
c.335A>G (p.Glu112Gly)
c.953A>G (p.Glu318Gly)
c.1217A>G (p.Glu406Gly)
c.1187A>G (p.Glu396Gly)
11g.72230422A>TCA381725303INPPL1c.1151A>T (p.Glu384Val)
c.425A>T (p.Glu142Val)
c.335A>T (p.Glu112Val)
c.953A>T (p.Glu318Val)
c.1217A>T (p.Glu406Val)
c.1187A>T (p.Glu396Val)
11g.72230424_72230426delCA600243023INPPL1c.1153_1155del (p.Lys385del)
c.427_429del (p.Lys143del)
c.337_339del (p.Lys113del)
c.955_957del (p.Lys319del)
c.1219_1221del (p.Lys407del)
c.1189_1191del (p.Lys397del)
dbSNP gnomAD v2 gnomAD v4
11g.72230423G>ACA475865921INPPL1c.1152G>A (p.Glu384=)
c.426G>A (p.Glu142=)
c.336G>A (p.Glu112=)
c.954G>A (p.Glu318=)
c.1218G>A (p.Glu406=)
c.1188G>A (p.Glu396=)
gnomAD v4
11g.72230423G>CCA381725309INPPL1c.1152G>C (p.Glu384Asp)
c.426G>C (p.Glu142Asp)
c.336G>C (p.Glu112Asp)
c.954G>C (p.Glu318Asp)
c.1218G>C (p.Glu406Asp)
c.1188G>C (p.Glu396Asp)
11g.72230423G>TCA381725310INPPL1c.1152G>T (p.Glu384Asp)
c.426G>T (p.Glu142Asp)
c.336G>T (p.Glu112Asp)
c.954G>T (p.Glu318Asp)
c.1218G>T (p.Glu406Asp)
c.1188G>T (p.Glu396Asp)
11g.72230423_72230424delinsGACA1981898069INPPL1c.1152_1153delinsGA (p.Glu384=)
c.426_427delinsGA (p.Glu142=)
c.336_337delinsGA (p.Glu112=)
c.954_955delinsGA (p.Glu318=)
c.1218_1219delinsGA (p.Glu406=)
c.1188_1189delinsGA (p.Glu396=)
11g.72230424A=CA1981898070INPPL1c.1153A= (p.Lys385=)
c.427A= (p.Lys143=)
c.337A= (p.Lys113=)
c.955A= (p.Lys319=)
c.1219A= (p.Lys407=)
c.1189A= (p.Lys397=)
11g.72230424A>CCA381725311INPPL1c.1153A>C (p.Lys385Gln)
c.427A>C (p.Lys143Gln)
c.337A>C (p.Lys113Gln)
c.955A>C (p.Lys319Gln)
c.1219A>C (p.Lys407Gln)
c.1189A>C (p.Lys397Gln)
11g.72230424A>GCA381725312INPPL1c.1153A>G (p.Lys385Glu)
c.427A>G (p.Lys143Glu)
c.337A>G (p.Lys113Glu)
c.955A>G (p.Lys319Glu)
c.1219A>G (p.Lys407Glu)
c.1189A>G (p.Lys397Glu)
dbSNP
11g.72230424A>TCA381725313INPPL1c.1153A>T (p.Lys385Ter)
c.427A>T (p.Lys143Ter)
c.337A>T (p.Lys113Ter)
c.955A>T (p.Lys319Ter)
c.1219A>T (p.Lys407Ter)
c.1189A>T (p.Lys397Ter)
11g.72230425delCA939440601INPPL1c.1154del (p.Lys385ArgfsTer27)
c.428del (p.Lys143ArgfsTer27)
c.338del (p.Lys113ArgfsTer?)
c.956del (p.Lys319ArgfsTer27)
c.1220del (p.Lys407ArgfsTer27)
c.1190del (p.Lys397ArgfsTer27)
dbSNP gnomAD v3 gnomAD v4
11g.72230425A>CCA381725314INPPL1c.1154A>C (p.Lys385Thr)
c.428A>C (p.Lys143Thr)
c.338A>C (p.Lys113Thr)
c.956A>C (p.Lys319Thr)
c.1220A>C (p.Lys407Thr)
c.1190A>C (p.Lys397Thr)
11g.72230425A>GCA381725315INPPL1c.1154A>G (p.Lys385Arg)
c.428A>G (p.Lys143Arg)
c.338A>G (p.Lys113Arg)
c.956A>G (p.Lys319Arg)
c.1220A>G (p.Lys407Arg)
c.1190A>G (p.Lys397Arg)
11g.72230425A>TCA381725317INPPL1c.1154A>T (p.Lys385Met)
c.428A>T (p.Lys143Met)
c.338A>T (p.Lys113Met)
c.956A>T (p.Lys319Met)
c.1220A>T (p.Lys407Met)
c.1190A>T (p.Lys397Met)
11g.72230426G>ACA475865922INPPL1c.1155G>A (p.Lys385=)
c.429G>A (p.Lys143=)
c.339G>A (p.Lys113=)
c.957G>A (p.Lys319=)
c.1221G>A (p.Lys407=)
c.1191G>A (p.Lys397=)
11g.72230426G>CCA381725319INPPL1c.1155G>C (p.Lys385Asn)
c.429G>C (p.Lys143Asn)
c.339G>C (p.Lys113Asn)
c.957G>C (p.Lys319Asn)
c.1221G>C (p.Lys407Asn)
c.1191G>C (p.Lys397Asn)
11g.72230426G>TCA381725321INPPL1c.1155G>T (p.Lys385Asn)
c.429G>T (p.Lys143Asn)
c.339G>T (p.Lys113Asn)
c.957G>T (p.Lys319Asn)
c.1221G>T (p.Lys407Asn)
c.1191G>T (p.Lys397Asn)
11g.72230427G>ACA381725322INPPL1c.1156G>A (p.Asp386Asn)
c.430G>A (p.Asp144Asn)
c.340G>A (p.Asp114Asn)
c.958G>A (p.Asp320Asn)
c.1222G>A (p.Asp408Asn)
c.1192G>A (p.Asp398Asn)
11g.72230427G>CCA381725324INPPL1c.1156G>C (p.Asp386His)
c.430G>C (p.Asp144His)
c.340G>C (p.Asp114His)
c.958G>C (p.Asp320His)
c.1222G>C (p.Asp408His)
c.1192G>C (p.Asp398His)
11g.72230427G>TCA381725326INPPL1c.1156G>T (p.Asp386Tyr)
c.430G>T (p.Asp144Tyr)
c.340G>T (p.Asp114Tyr)
c.958G>T (p.Asp320Tyr)
c.1222G>T (p.Asp408Tyr)
c.1192G>T (p.Asp398Tyr)
11g.72230428A>CCA381725330INPPL1c.1157A>C (p.Asp386Ala)
c.431A>C (p.Asp144Ala)
c.341A>C (p.Asp114Ala)
c.959A>C (p.Asp320Ala)
c.1223A>C (p.Asp408Ala)
c.1193A>C (p.Asp398Ala)
11g.72230428A>GCA381725332INPPL1c.1157A>G (p.Asp386Gly)
c.431A>G (p.Asp144Gly)
c.341A>G (p.Asp114Gly)
c.959A>G (p.Asp320Gly)
c.1223A>G (p.Asp408Gly)
c.1193A>G (p.Asp398Gly)
11g.72230428A>TCA381725329INPPL1c.1157A>T (p.Asp386Val)
c.431A>T (p.Asp144Val)
c.341A>T (p.Asp114Val)
c.959A>T (p.Asp320Val)
c.1223A>T (p.Asp408Val)
c.1193A>T (p.Asp398Val)
11g.72230429C>ACA381725343INPPL1c.1158C>A (p.Asp386Glu)
c.432C>A (p.Asp144Glu)
c.342C>A (p.Asp114Glu)
c.960C>A (p.Asp320Glu)
c.1224C>A (p.Asp408Glu)
c.1194C>A (p.Asp398Glu)
11g.72230429C>GCA381725344INPPL1c.1158C>G (p.Asp386Glu)
c.432C>G (p.Asp144Glu)
c.342C>G (p.Asp114Glu)
c.960C>G (p.Asp320Glu)
c.1224C>G (p.Asp408Glu)
c.1194C>G (p.Asp398Glu)
11g.72230429C>TCA475865923INPPL1c.1158C>T (p.Asp386=)
c.432C>T (p.Asp144=)
c.342C>T (p.Asp114=)
c.960C>T (p.Asp320=)
c.1224C>T (p.Asp408=)
c.1194C>T (p.Asp398=)
11g.72230430C>ACA475865924INPPL1c.1159C>A (p.Arg387=)
c.433C>A (p.Arg145=)
c.343C>A (p.Arg115=)
c.961C>A (p.Arg321=)
c.1225C>A (p.Arg409=)
c.1195C>A (p.Arg399=)
11g.72230430C=CA1981898071INPPL1c.1159C= (p.Arg387=)
c.433C= (p.Arg145=)
c.343C= (p.Arg115=)
c.961C= (p.Arg321=)
c.1225C= (p.Arg409=)
c.1195C= (p.Arg399=)
11g.72230430C>GCA381725346INPPL1c.1159C>G (p.Arg387Gly)
c.433C>G (p.Arg145Gly)
c.343C>G (p.Arg115Gly)
c.961C>G (p.Arg321Gly)
c.1225C>G (p.Arg409Gly)
c.1195C>G (p.Arg399Gly)
11g.72230430C>TCA6169921INPPL1c.1159C>T (p.Arg387Trp)
c.433C>T (p.Arg145Trp)
c.343C>T (p.Arg115Trp)
c.961C>T (p.Arg321Trp)
c.1225C>T (p.Arg409Trp)
c.1195C>T (p.Arg399Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230431G>ACA6169922INPPL1c.1160G>A (p.Arg387Gln)
c.434G>A (p.Arg145Gln)
c.344G>A (p.Arg115Gln)
c.962G>A (p.Arg321Gln)
c.1226G>A (p.Arg409Gln)
c.1196G>A (p.Arg399Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230431G>CCA381725357INPPL1c.1160G>C (p.Arg387Pro)
c.434G>C (p.Arg145Pro)
c.344G>C (p.Arg115Pro)
c.962G>C (p.Arg321Pro)
c.1226G>C (p.Arg409Pro)
c.1196G>C (p.Arg399Pro)
11g.72230431G=CA1981898072INPPL1c.1160G= (p.Arg387=)
c.434G= (p.Arg145=)
c.344G= (p.Arg115=)
c.962G= (p.Arg321=)
c.1226G= (p.Arg409=)
c.1196G= (p.Arg399=)
11g.72230431G>TCA381725358INPPL1c.1160G>T (p.Arg387Leu)
c.434G>T (p.Arg145Leu)
c.344G>T (p.Arg115Leu)
c.962G>T (p.Arg321Leu)
c.1226G>T (p.Arg409Leu)
c.1196G>T (p.Arg399Leu)
11g.72230432G>ACA475865925INPPL1c.1161G>A (p.Arg387=)
c.435G>A (p.Arg145=)
c.345G>A (p.Arg115=)
c.963G>A (p.Arg321=)
c.1227G>A (p.Arg409=)
c.1197G>A (p.Arg399=)
11g.72230432G>CCA475865926INPPL1c.1161G>C (p.Arg387=)
c.435G>C (p.Arg145=)
c.345G>C (p.Arg115=)
c.963G>C (p.Arg321=)
c.1227G>C (p.Arg409=)
c.1197G>C (p.Arg399=)
11g.72230432G>TCA475865927INPPL1c.1161G>T (p.Arg387=)
c.435G>T (p.Arg145=)
c.345G>T (p.Arg115=)
c.963G>T (p.Arg321=)
c.1227G>T (p.Arg409=)
c.1197G>T (p.Arg399=)
11g.72230433A>CCA381725361INPPL1c.1162A>C (p.Thr388Pro)
c.436A>C (p.Thr146Pro)
c.346A>C (p.Thr116Pro)
c.964A>C (p.Thr322Pro)
c.1228A>C (p.Thr410Pro)
c.1198A>C (p.Thr400Pro)
11g.72230433A>GCA381725364INPPL1c.1162A>G (p.Thr388Ala)
c.436A>G (p.Thr146Ala)
c.346A>G (p.Thr116Ala)
c.964A>G (p.Thr322Ala)
c.1228A>G (p.Thr410Ala)
c.1198A>G (p.Thr400Ala)
11g.72230433A>TCA381725365INPPL1c.1162A>T (p.Thr388Ser)
c.436A>T (p.Thr146Ser)
c.346A>T (p.Thr116Ser)
c.964A>T (p.Thr322Ser)
c.1228A>T (p.Thr410Ser)
c.1198A>T (p.Thr400Ser)
gnomAD v4
11g.72230434C>ACA381725376INPPL1c.1163C>A (p.Thr388Asn)
c.437C>A (p.Thr146Asn)
c.347C>A (p.Thr116Asn)
c.965C>A (p.Thr322Asn)
c.1229C>A (p.Thr410Asn)
c.1199C>A (p.Thr400Asn)
11g.72230434C>GCA381725378INPPL1c.1163C>G (p.Thr388Ser)
c.437C>G (p.Thr146Ser)
c.347C>G (p.Thr116Ser)
c.965C>G (p.Thr322Ser)
c.1229C>G (p.Thr410Ser)
c.1199C>G (p.Thr400Ser)
11g.72230434C>TCA381725382INPPL1c.1163C>T (p.Thr388Ile)
c.437C>T (p.Thr146Ile)
c.347C>T (p.Thr116Ile)
c.965C>T (p.Thr322Ile)
c.1229C>T (p.Thr410Ile)
c.1199C>T (p.Thr400Ile)
11g.72230435T>ACA475865928INPPL1c.1164T>A (p.Thr388=)
c.438T>A (p.Thr146=)
c.348T>A (p.Thr116=)
c.966T>A (p.Thr322=)
c.1230T>A (p.Thr410=)
c.1200T>A (p.Thr400=)
11g.72230435T>CCA475865929INPPL1c.1164T>C (p.Thr388=)
c.438T>C (p.Thr146=)
c.348T>C (p.Thr116=)
c.966T>C (p.Thr322=)
c.1230T>C (p.Thr410=)
c.1200T>C (p.Thr400=)
dbSNP
11g.72230435T>GCA475865930INPPL1c.1164T>G (p.Thr388=)
c.438T>G (p.Thr146=)
c.348T>G (p.Thr116=)
c.966T>G (p.Thr322=)
c.1230T>G (p.Thr410=)
c.1200T>G (p.Thr400=)
11g.72230435T=CA1981898073INPPL1c.1164T= (p.Thr388=)
c.438T= (p.Thr146=)
c.348T= (p.Thr116=)
c.966T= (p.Thr322=)
c.1230T= (p.Thr410=)
c.1200T= (p.Thr400=)
11g.72230436C>ACA381725384INPPL1c.1165C>A (p.Gln389Lys)
c.439C>A (p.Gln147Lys)
c.349C>A (p.Gln117Lys)
c.967C>A (p.Gln323Lys)
c.1231C>A (p.Gln411Lys)
c.1201C>A (p.Gln401Lys)
11g.72230436C>GCA381725389INPPL1c.1165C>G (p.Gln389Glu)
c.439C>G (p.Gln147Glu)
c.349C>G (p.Gln117Glu)
c.967C>G (p.Gln323Glu)
c.1231C>G (p.Gln411Glu)
c.1201C>G (p.Gln401Glu)
11g.72230436C>TCA381725386INPPL1c.1165C>T (p.Gln389Ter)
c.439C>T (p.Gln147Ter)
c.349C>T (p.Gln117Ter)
c.967C>T (p.Gln323Ter)
c.1231C>T (p.Gln411Ter)
c.1201C>T (p.Gln401Ter)
gnomAD v4
11g.72230437A>CCA381725391INPPL1c.1166A>C (p.Gln389Pro)
c.440A>C (p.Gln147Pro)
c.350A>C (p.Gln117Pro)
c.968A>C (p.Gln323Pro)
c.1232A>C (p.Gln411Pro)
c.1202A>C (p.Gln401Pro)
11g.72230437A>GCA381725392INPPL1c.1166A>G (p.Gln389Arg)
c.440A>G (p.Gln147Arg)
c.350A>G (p.Gln117Arg)
c.968A>G (p.Gln323Arg)
c.1232A>G (p.Gln411Arg)
c.1202A>G (p.Gln401Arg)
11g.72230437A>TCA381725395INPPL1c.1166A>T (p.Gln389Leu)
c.440A>T (p.Gln147Leu)
c.350A>T (p.Gln117Leu)
c.968A>T (p.Gln323Leu)
c.1232A>T (p.Gln411Leu)
c.1202A>T (p.Gln401Leu)
11g.72230438G>ACA475865931INPPL1c.1167G>A (p.Gln389=)
c.441G>A (p.Gln147=)
c.351G>A (p.Gln117=)
c.969G>A (p.Gln323=)
c.1233G>A (p.Gln411=)
c.1203G>A (p.Gln401=)
11g.72230438G>CCA381725397INPPL1c.1167G>C (p.Gln389His)
c.441G>C (p.Gln147His)
c.351G>C (p.Gln117His)
c.969G>C (p.Gln323His)
c.1233G>C (p.Gln411His)
c.1203G>C (p.Gln401His)
11g.72230438G>TCA381725399INPPL1c.1167G>T (p.Gln389His)
c.441G>T (p.Gln147His)
c.351G>T (p.Gln117His)
c.969G>T (p.Gln323His)
c.1233G>T (p.Gln411His)
c.1203G>T (p.Gln401His)
11g.72230439C>ACA381725400INPPL1c.1168C>A (p.Arg390Ser)
c.442C>A (p.Arg148Ser)
c.352C>A (p.Arg118Ser)
c.970C>A (p.Arg324Ser)
c.1234C>A (p.Arg412Ser)
c.1204C>A (p.Arg402Ser)
11g.72230439C=CA1981898074INPPL1c.1168C= (p.Arg390=)
c.442C= (p.Arg148=)
c.352C= (p.Arg118=)
c.970C= (p.Arg324=)
c.1234C= (p.Arg412=)
c.1204C= (p.Arg402=)
11g.72230439C>GCA381725402INPPL1c.1168C>G (p.Arg390Gly)
c.442C>G (p.Arg148Gly)
c.352C>G (p.Arg118Gly)
c.970C>G (p.Arg324Gly)
c.1234C>G (p.Arg412Gly)
c.1204C>G (p.Arg402Gly)
gnomAD v4
11g.72230439C>TCA6169923INPPL1c.1168C>T (p.Arg390Cys)
c.442C>T (p.Arg148Cys)
c.352C>T (p.Arg118Cys)
c.970C>T (p.Arg324Cys)
c.1234C>T (p.Arg412Cys)
c.1204C>T (p.Arg402Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230440G>ACA6169924INPPL1c.1169G>A (p.Arg390His)
c.443G>A (p.Arg148His)
c.353G>A (p.Arg118His)
c.971G>A (p.Arg324His)
c.1235G>A (p.Arg412His)
c.1205G>A (p.Arg402His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230440G>CCA381725406INPPL1c.1169G>C (p.Arg390Pro)
c.443G>C (p.Arg148Pro)
c.353G>C (p.Arg118Pro)
c.971G>C (p.Arg324Pro)
c.1235G>C (p.Arg412Pro)
c.1205G>C (p.Arg402Pro)
dbSNP gnomAD v4
11g.72230440G=CA1981898075INPPL1c.1169G= (p.Arg390=)
c.443G= (p.Arg148=)
c.353G= (p.Arg118=)
c.971G= (p.Arg324=)
c.1235G= (p.Arg412=)
c.1205G= (p.Arg402=)
11g.72230440G>TCA381725409INPPL1c.1169G>T (p.Arg390Leu)
c.443G>T (p.Arg148Leu)
c.353G>T (p.Arg118Leu)
c.971G>T (p.Arg324Leu)
c.1235G>T (p.Arg412Leu)
c.1205G>T (p.Arg402Leu)
dbSNP gnomAD v2 gnomAD v4
11g.72230441C>ACA475865932INPPL1c.1170C>A (p.Arg390=)
c.444C>A (p.Arg148=)
c.354C>A (p.Arg118=)
c.972C>A (p.Arg324=)
c.1236C>A (p.Arg412=)
c.1206C>A (p.Arg402=)
11g.72230441C>GCA475865933INPPL1c.1170C>G (p.Arg390=)
c.444C>G (p.Arg148=)
c.354C>G (p.Arg118=)
c.972C>G (p.Arg324=)
c.1236C>G (p.Arg412=)
c.1206C>G (p.Arg402=)
11g.72230441C>TCA475865934INPPL1c.1170C>T (p.Arg390=)
c.444C>T (p.Arg148=)
c.354C>T (p.Arg118=)
c.972C>T (p.Arg324=)
c.1236C>T (p.Arg412=)
c.1206C>T (p.Arg402=)
gnomAD v4
11g.72230442A>CCA381725414INPPL1c.1171A>C (p.Lys391Gln)
c.445A>C (p.Lys149Gln)
c.355A>C (p.Lys119Gln)
c.973A>C (p.Lys325Gln)
c.1237A>C (p.Lys413Gln)
c.1207A>C (p.Lys403Gln)
11g.72230442A>GCA381725416INPPL1c.1171A>G (p.Lys391Glu)
c.445A>G (p.Lys149Glu)
c.355A>G (p.Lys119Glu)
c.973A>G (p.Lys325Glu)
c.1237A>G (p.Lys413Glu)
c.1207A>G (p.Lys403Glu)
gnomAD v4
11g.72230442A>TCA381725411INPPL1c.1171A>T (p.Lys391Ter)
c.445A>T (p.Lys149Ter)
c.355A>T (p.Lys119Ter)
c.973A>T (p.Lys325Ter)
c.1237A>T (p.Lys413Ter)
c.1207A>T (p.Lys403Ter)
11g.72230443A>CCA381725420INPPL1c.1172A>C (p.Lys391Thr)
c.446A>C (p.Lys149Thr)
c.356A>C (p.Lys119Thr)
c.974A>C (p.Lys325Thr)
c.1238A>C (p.Lys413Thr)
c.1208A>C (p.Lys403Thr)
gnomAD v4
11g.72230443A>GCA381725418INPPL1c.1172A>G (p.Lys391Arg)
c.446A>G (p.Lys149Arg)
c.356A>G (p.Lys119Arg)
c.974A>G (p.Lys325Arg)
c.1238A>G (p.Lys413Arg)
c.1208A>G (p.Lys403Arg)
11g.72230443A>TCA381725421INPPL1c.1172A>T (p.Lys391Met)
c.446A>T (p.Lys149Met)
c.356A>T (p.Lys119Met)
c.974A>T (p.Lys325Met)
c.1238A>T (p.Lys413Met)
c.1208A>T (p.Lys403Met)
11g.72230444G>ACA224376038INPPL1c.1173G>A (p.Lys391=)
c.447G>A (p.Lys149=)
c.357G>A (p.Lys119=)
c.975G>A (p.Lys325=)
c.1239G>A (p.Lys413=)
c.1209G>A (p.Lys403=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230444G>CCA381725423INPPL1c.1173G>C (p.Lys391Asn)
c.447G>C (p.Lys149Asn)
c.357G>C (p.Lys119Asn)
c.975G>C (p.Lys325Asn)
c.1239G>C (p.Lys413Asn)
c.1209G>C (p.Lys403Asn)
11g.72230444G=CA1981898076INPPL1c.1173G= (p.Lys391=)
c.447G= (p.Lys149=)
c.357G= (p.Lys119=)
c.975G= (p.Lys325=)
c.1239G= (p.Lys413=)
c.1209G= (p.Lys403=)
11g.72230444G>TCA381725426INPPL1c.1173G>T (p.Lys391Asn)
c.447G>T (p.Lys149Asn)
c.357G>T (p.Lys119Asn)
c.975G>T (p.Lys325Asn)
c.1239G>T (p.Lys413Asn)
c.1209G>T (p.Lys403Asn)
11g.72230445G>ACA381725428INPPL1c.1174G>A (p.Asp392Asn)
c.448G>A (p.Asp150Asn)
c.358G>A (p.Asp120Asn)
c.976G>A (p.Asp326Asn)
c.1240G>A (p.Asp414Asn)
c.1210G>A (p.Asp404Asn)
11g.72230445G>CCA381725430INPPL1c.1174G>C (p.Asp392His)
c.448G>C (p.Asp150His)
c.358G>C (p.Asp120His)
c.976G>C (p.Asp326His)
c.1240G>C (p.Asp414His)
c.1210G>C (p.Asp404His)
11g.72230445G>TCA381725431INPPL1c.1174G>T (p.Asp392Tyr)
c.448G>T (p.Asp150Tyr)
c.358G>T (p.Asp120Tyr)
c.976G>T (p.Asp326Tyr)
c.1240G>T (p.Asp414Tyr)
c.1210G>T (p.Asp404Tyr)
gnomAD v4
11g.72230446A>CCA381725433INPPL1c.1175A>C (p.Asp392Ala)
c.449A>C (p.Asp150Ala)
c.359A>C (p.Asp120Ala)
c.977A>C (p.Asp326Ala)
c.1241A>C (p.Asp414Ala)
c.1211A>C (p.Asp404Ala)
11g.72230446A>GCA381725436INPPL1c.1175A>G (p.Asp392Gly)
c.449A>G (p.Asp150Gly)
c.359A>G (p.Asp120Gly)
c.977A>G (p.Asp326Gly)
c.1241A>G (p.Asp414Gly)
c.1211A>G (p.Asp404Gly)
11g.72230446A>TCA381725439INPPL1c.1175A>T (p.Asp392Val)
c.449A>T (p.Asp150Val)
c.359A>T (p.Asp120Val)
c.977A>T (p.Asp326Val)
c.1241A>T (p.Asp414Val)
c.1211A>T (p.Asp404Val)
11g.72230447C>ACA381725444INPPL1c.1176C>A (p.Asp392Glu)
c.450C>A (p.Asp150Glu)
c.360C>A (p.Asp120Glu)
c.978C>A (p.Asp326Glu)
c.1242C>A (p.Asp414Glu)
c.1212C>A (p.Asp404Glu)
11g.72230447C>GCA381725442INPPL1c.1176C>G (p.Asp392Glu)
c.450C>G (p.Asp150Glu)
c.360C>G (p.Asp120Glu)
c.978C>G (p.Asp326Glu)
c.1242C>G (p.Asp414Glu)
c.1212C>G (p.Asp404Glu)
11g.72230447C>TCA475865935INPPL1c.1176C>T (p.Asp392=)
c.450C>T (p.Asp150=)
c.360C>T (p.Asp120=)
c.978C>T (p.Asp326=)
c.1242C>T (p.Asp414=)
c.1212C>T (p.Asp404=)
11g.72230448T>ACA381725445INPPL1c.1177T>A (p.Phe393Ile)
c.451T>A (p.Phe151Ile)
c.361T>A (p.Phe121Ile)
c.979T>A (p.Phe327Ile)
c.1243T>A (p.Phe415Ile)
c.1213T>A (p.Phe405Ile)
11g.72230448T>CCA6169925INPPL1c.1177T>C (p.Phe393Leu)
c.451T>C (p.Phe151Leu)
c.361T>C (p.Phe121Leu)
c.979T>C (p.Phe327Leu)
c.1243T>C (p.Phe415Leu)
c.1213T>C (p.Phe405Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230448T>GCA381725449INPPL1c.1177T>G (p.Phe393Val)
c.451T>G (p.Phe151Val)
c.361T>G (p.Phe121Val)
c.979T>G (p.Phe327Val)
c.1243T>G (p.Phe415Val)
c.1213T>G (p.Phe405Val)
11g.72230448T=CA1981898077INPPL1c.1177T= (p.Phe393=)
c.451T= (p.Phe151=)
c.361T= (p.Phe121=)
c.979T= (p.Phe327=)
c.1243T= (p.Phe415=)
c.1213T= (p.Phe405=)
11g.72230449T>ACA381725451INPPL1c.1178T>A (p.Phe393Tyr)
c.452T>A (p.Phe151Tyr)
c.362T>A (p.Phe121Tyr)
c.980T>A (p.Phe327Tyr)
c.1244T>A (p.Phe415Tyr)
c.1214T>A (p.Phe405Tyr)
11g.72230449T>CCA381725453INPPL1c.1178T>C (p.Phe393Ser)
c.452T>C (p.Phe151Ser)
c.362T>C (p.Phe121Ser)
c.980T>C (p.Phe327Ser)
c.1244T>C (p.Phe415Ser)
c.1214T>C (p.Phe405Ser)
11g.72230449T>GCA381725455INPPL1c.1178T>G (p.Phe393Cys)
c.452T>G (p.Phe151Cys)
c.362T>G (p.Phe121Cys)
c.980T>G (p.Phe327Cys)
c.1244T>G (p.Phe415Cys)
c.1214T>G (p.Phe405Cys)
11g.72230450C>ACA381725458INPPL1c.1179C>A (p.Phe393Leu)
c.453C>A (p.Phe151Leu)
c.363C>A (p.Phe121Leu)
c.981C>A (p.Phe327Leu)
c.1245C>A (p.Phe415Leu)
c.1215C>A (p.Phe405Leu)
11g.72230450C=CA1981898078INPPL1c.1179C= (p.Phe393=)
c.453C= (p.Phe151=)
c.363C= (p.Phe121=)
c.981C= (p.Phe327=)
c.1245C= (p.Phe415=)
c.1215C= (p.Phe405=)
11g.72230450C>GCA381725462INPPL1c.1179C>G (p.Phe393Leu)
c.453C>G (p.Phe151Leu)
c.363C>G (p.Phe121Leu)
c.981C>G (p.Phe327Leu)
c.1245C>G (p.Phe415Leu)
c.1215C>G (p.Phe405Leu)
dbSNP gnomAD v2 gnomAD v4
11g.72230450C>TCA6169926INPPL1c.1179C>T (p.Phe393=)
c.453C>T (p.Phe151=)
c.363C>T (p.Phe121=)
c.981C>T (p.Phe327=)
c.1245C>T (p.Phe415=)
c.1215C>T (p.Phe405=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230451A=CA1981898079INPPL1c.1180A= (p.Ile394=)
c.454A= (p.Ile152=)
c.364A= (p.Ile122=)
c.982A= (p.Ile328=)
c.1246A= (p.Ile416=)
c.1216A= (p.Ile406=)
11g.72230451A>CCA381725464INPPL1c.1180A>C (p.Ile394Leu)
c.454A>C (p.Ile152Leu)
c.364A>C (p.Ile122Leu)
c.982A>C (p.Ile328Leu)
c.1246A>C (p.Ile416Leu)
c.1216A>C (p.Ile406Leu)
11g.72230451A>GCA381725465INPPL1c.1180A>G (p.Ile394Val)
c.454A>G (p.Ile152Val)
c.364A>G (p.Ile122Val)
c.982A>G (p.Ile328Val)
c.1246A>G (p.Ile416Val)
c.1216A>G (p.Ile406Val)
gnomAD v4
11g.72230451A>TCA6169927INPPL1c.1180A>T (p.Ile394Phe)
c.454A>T (p.Ile152Phe)
c.364A>T (p.Ile122Phe)
c.982A>T (p.Ile328Phe)
c.1246A>T (p.Ile416Phe)
c.1216A>T (p.Ile406Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230452T>ACA381725469INPPL1c.1181T>A (p.Ile394Asn)
c.455T>A (p.Ile152Asn)
c.365T>A (p.Ile122Asn)
c.983T>A (p.Ile328Asn)
c.1247T>A (p.Ile416Asn)
c.1217T>A (p.Ile406Asn)
11g.72230452T>CCA381725473INPPL1c.1181T>C (p.Ile394Thr)
c.455T>C (p.Ile152Thr)
c.365T>C (p.Ile122Thr)
c.983T>C (p.Ile328Thr)
c.1247T>C (p.Ile416Thr)
c.1217T>C (p.Ile406Thr)
11g.72230452T>GCA381725476INPPL1c.1181T>G (p.Ile394Ser)
c.455T>G (p.Ile152Ser)
c.365T>G (p.Ile122Ser)
c.983T>G (p.Ile328Ser)
c.1247T>G (p.Ile416Ser)
c.1217T>G (p.Ile406Ser)
11g.72230453C>ACA475865936INPPL1c.1182C>A (p.Ile394=)
c.456C>A (p.Ile152=)
c.366C>A (p.Ile122=)
c.984C>A (p.Ile328=)
c.1248C>A (p.Ile416=)
c.1218C>A (p.Ile406=)
11g.72230453C=CA1981898080INPPL1c.1182C= (p.Ile394=)
c.456C= (p.Ile152=)
c.366C= (p.Ile122=)
c.984C= (p.Ile328=)
c.1248C= (p.Ile416=)
c.1218C= (p.Ile406=)
11g.72230453C>GCA381725479INPPL1c.1182C>G (p.Ile394Met)
c.456C>G (p.Ile152Met)
c.366C>G (p.Ile122Met)
c.984C>G (p.Ile328Met)
c.1248C>G (p.Ile416Met)
c.1218C>G (p.Ile406Met)
11g.72230453C>TCA475865937INPPL1c.1182C>T (p.Ile394=)
c.456C>T (p.Ile152=)
c.366C>T (p.Ile122=)
c.984C>T (p.Ile328=)
c.1248C>T (p.Ile416=)
c.1218C>T (p.Ile406=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72230454T>ACA381725481INPPL1c.1183T>A (p.Phe395Ile)
c.457T>A (p.Phe153Ile)
c.367T>A (p.Phe123Ile)
c.985T>A (p.Phe329Ile)
c.1249T>A (p.Phe417Ile)
c.1219T>A (p.Phe407Ile)
11g.72230454T>CCA381725483INPPL1c.1183T>C (p.Phe395Leu)
c.457T>C (p.Phe153Leu)
c.367T>C (p.Phe123Leu)
c.985T>C (p.Phe329Leu)
c.1249T>C (p.Phe417Leu)
c.1219T>C (p.Phe407Leu)
11g.72230454T>GCA381725485INPPL1c.1183T>G (p.Phe395Val)
c.457T>G (p.Phe153Val)
c.367T>G (p.Phe123Val)
c.985T>G (p.Phe329Val)
c.1249T>G (p.Phe417Val)
c.1219T>G (p.Phe407Val)
11g.72230455_72230456dupCA679977070INPPL1c.1184_1185dup (p.Val396LeufsTer17)
c.458_459dup (p.Val154LeufsTer17)
c.368_369dup (p.Val124LeufsTer?)
c.986_987dup (p.Val330LeufsTer17)
c.1250_1251dup (p.Val418LeufsTer17)
c.1220_1221dup (p.Val408LeufsTer17)
dbSNP gnomAD v3 gnomAD v4
11g.72230455T>ACA381725492INPPL1c.1184T>A (p.Phe395Tyr)
c.458T>A (p.Phe153Tyr)
c.368T>A (p.Phe123Tyr)
c.986T>A (p.Phe329Tyr)
c.1250T>A (p.Phe417Tyr)
c.1220T>A (p.Phe407Tyr)
11g.72230455T>CCA381725490INPPL1c.1184T>C (p.Phe395Ser)
c.458T>C (p.Phe153Ser)
c.368T>C (p.Phe123Ser)
c.986T>C (p.Phe329Ser)
c.1250T>C (p.Phe417Ser)
c.1220T>C (p.Phe407Ser)
11g.72230455T>GCA381725488INPPL1c.1184T>G (p.Phe395Cys)
c.458T>G (p.Phe153Cys)
c.368T>G (p.Phe123Cys)
c.986T>G (p.Phe329Cys)
c.1250T>G (p.Phe417Cys)
c.1220T>G (p.Phe407Cys)
11g.72230456T>ACA381725495INPPL1c.1185T>A (p.Phe395Leu)
c.459T>A (p.Phe153Leu)
c.369T>A (p.Phe123Leu)
c.987T>A (p.Phe329Leu)
c.1251T>A (p.Phe417Leu)
c.1221T>A (p.Phe407Leu)
11g.72230456T>CCA475865938INPPL1c.1185T>C (p.Phe395=)
c.459T>C (p.Phe153=)
c.369T>C (p.Phe123=)
c.987T>C (p.Phe329=)
c.1251T>C (p.Phe417=)
c.1221T>C (p.Phe407=)
dbSNP
11g.72230456T>GCA381725498INPPL1c.1185T>G (p.Phe395Leu)
c.459T>G (p.Phe153Leu)
c.369T>G (p.Phe123Leu)
c.987T>G (p.Phe329Leu)
c.1251T>G (p.Phe417Leu)
c.1221T>G (p.Phe407Leu)
11g.72230456T=CA1981898081INPPL1c.1185T= (p.Phe395=)
c.459T= (p.Phe153=)
c.369T= (p.Phe123=)
c.987T= (p.Phe329=)
c.1251T= (p.Phe417=)
c.1221T= (p.Phe407=)
11g.72230457G>ACA381725499INPPL1c.1186G>A (p.Val396Ile)
c.460G>A (p.Val154Ile)
c.370G>A (p.Val124Ile)
c.988G>A (p.Val330Ile)
c.1252G>A (p.Val418Ile)
c.1222G>A (p.Val408Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230457G>CCA381725501INPPL1c.1186G>C (p.Val396Leu)
c.460G>C (p.Val154Leu)
c.370G>C (p.Val124Leu)
c.988G>C (p.Val330Leu)
c.1252G>C (p.Val418Leu)
c.1222G>C (p.Val408Leu)
gnomAD v4
11g.72230457G=CA1981898082INPPL1c.1186G= (p.Val396=)
c.460G= (p.Val154=)
c.370G= (p.Val124=)
c.988G= (p.Val330=)
c.1252G= (p.Val418=)
c.1222G= (p.Val408=)
11g.72230457G>TCA381725502INPPL1c.1186G>T (p.Val396Phe)
c.460G>T (p.Val154Phe)
c.370G>T (p.Val124Phe)
c.988G>T (p.Val330Phe)
c.1252G>T (p.Val418Phe)
c.1222G>T (p.Val408Phe)
11g.72230458T>ACA381725504INPPL1c.1187T>A (p.Val396Asp)
c.461T>A (p.Val154Asp)
c.371T>A (p.Val124Asp)
c.989T>A (p.Val330Asp)
c.1253T>A (p.Val418Asp)
c.1223T>A (p.Val408Asp)
gnomAD v4
11g.72230458T>CCA381725506INPPL1c.1187T>C (p.Val396Ala)
c.461T>C (p.Val154Ala)
c.371T>C (p.Val124Ala)
c.989T>C (p.Val330Ala)
c.1253T>C (p.Val418Ala)
c.1223T>C (p.Val408Ala)
11g.72230458T>GCA381725507INPPL1c.1187T>G (p.Val396Gly)
c.461T>G (p.Val154Gly)
c.371T>G (p.Val124Gly)
c.989T>G (p.Val330Gly)
c.1253T>G (p.Val418Gly)
c.1223T>G (p.Val408Gly)
11g.72230459C>ACA475865939INPPL1c.1188C>A (p.Val396=)
c.462C>A (p.Val154=)
c.372C>A (p.Val124=)
c.990C>A (p.Val330=)
c.1254C>A (p.Val418=)
c.1224C>A (p.Val408=)
11g.72230459C=CA1981898083INPPL1c.1188C= (p.Val396=)
c.462C= (p.Val154=)
c.372C= (p.Val124=)
c.990C= (p.Val330=)
c.1254C= (p.Val418=)
c.1224C= (p.Val408=)
11g.72230459C>GCA6169928INPPL1c.1188C>G (p.Val396=)
c.462C>G (p.Val154=)
c.372C>G (p.Val124=)
c.990C>G (p.Val330=)
c.1254C>G (p.Val418=)
c.1224C>G (p.Val408=)
dbSNP ExAC gnomAD v4
11g.72230459C>TCA475865940INPPL1c.1188C>T (p.Val396=)
c.462C>T (p.Val154=)
c.372C>T (p.Val124=)
c.990C>T (p.Val330=)
c.1254C>T (p.Val418=)
c.1224C>T (p.Val408=)
11g.72230460A>CCA381725508INPPL1c.1189A>C (p.Ser397Arg)
c.463A>C (p.Ser155Arg)
c.373A>C (p.Ser125Arg)
c.991A>C (p.Ser331Arg)
c.1255A>C (p.Ser419Arg)
c.1225A>C (p.Ser409Arg)
11g.72230460A>GCA381725510INPPL1c.1189A>G (p.Ser397Gly)
c.463A>G (p.Ser155Gly)
c.373A>G (p.Ser125Gly)
c.991A>G (p.Ser331Gly)
c.1255A>G (p.Ser419Gly)
c.1225A>G (p.Ser409Gly)
COSMIC
11g.72230460A>TCA381725511INPPL1c.1189A>T (p.Ser397Cys)
c.463A>T (p.Ser155Cys)
c.373A>T (p.Ser125Cys)
c.991A>T (p.Ser331Cys)
c.1255A>T (p.Ser419Cys)
c.1225A>T (p.Ser409Cys)
11g.72230461G>ACA381725518INPPL1c.1190G>A (p.Ser397Asn)
c.464G>A (p.Ser155Asn)
c.374G>A (p.Ser125Asn)
c.992G>A (p.Ser331Asn)
c.1256G>A (p.Ser419Asn)
c.1226G>A (p.Ser409Asn)
11g.72230461G>CCA381725516INPPL1c.1190G>C (p.Ser397Thr)
c.464G>C (p.Ser155Thr)
c.374G>C (p.Ser125Thr)
c.992G>C (p.Ser331Thr)
c.1256G>C (p.Ser419Thr)
c.1226G>C (p.Ser409Thr)
11g.72230461G>TCA381725513INPPL1c.1190G>T (p.Ser397Ile)
c.464G>T (p.Ser155Ile)
c.374G>T (p.Ser125Ile)
c.992G>T (p.Ser331Ile)
c.1256G>T (p.Ser419Ile)
c.1226G>T (p.Ser409Ile)
11g.72230462T>ACA381725519INPPL1c.1191T>A (p.Ser397Arg)
c.465T>A (p.Ser155Arg)
c.375T>A (p.Ser125Arg)
c.993T>A (p.Ser331Arg)
c.1257T>A (p.Ser419Arg)
c.1227T>A (p.Ser409Arg)
11g.72230462T>CCA475865941INPPL1c.1191T>C (p.Ser397=)
c.465T>C (p.Ser155=)
c.375T>C (p.Ser125=)
c.993T>C (p.Ser331=)
c.1257T>C (p.Ser419=)
c.1227T>C (p.Ser409=)
11g.72230462T>GCA381725524INPPL1c.1191T>G (p.Ser397Arg)
c.465T>G (p.Ser155Arg)
c.375T>G (p.Ser125Arg)
c.993T>G (p.Ser331Arg)
c.1257T>G (p.Ser419Arg)
c.1227T>G (p.Ser409Arg)
11g.72230463G>ACA381725532INPPL1c.1192G>A (p.Ala398Thr)
c.466G>A (p.Ala156Thr)
c.376G>A (p.Ala126Thr)
c.994G>A (p.Ala332Thr)
c.1258G>A (p.Ala420Thr)
c.1228G>A (p.Ala410Thr)
11g.72230463G>CCA381725533INPPL1c.1192G>C (p.Ala398Pro)
c.466G>C (p.Ala156Pro)
c.376G>C (p.Ala126Pro)
c.994G>C (p.Ala332Pro)
c.1258G>C (p.Ala420Pro)
c.1228G>C (p.Ala410Pro)
11g.72230463G>TCA381725534INPPL1c.1192G>T (p.Ala398Ser)
c.466G>T (p.Ala156Ser)
c.376G>T (p.Ala126Ser)
c.994G>T (p.Ala332Ser)
c.1258G>T (p.Ala420Ser)
c.1228G>T (p.Ala410Ser)
gnomAD v4
11g.72230464C>ACA381725535INPPL1c.1193C>A (p.Ala398Asp)
c.467C>A (p.Ala156Asp)
c.377C>A (p.Ala126Asp)
c.995C>A (p.Ala332Asp)
c.1259C>A (p.Ala420Asp)
c.1229C>A (p.Ala410Asp)
11g.72230464C>GCA381725537INPPL1c.1193C>G (p.Ala398Gly)
c.467C>G (p.Ala156Gly)
c.377C>G (p.Ala126Gly)
c.995C>G (p.Ala332Gly)
c.1259C>G (p.Ala420Gly)
c.1229C>G (p.Ala410Gly)
11g.72230464C>TCA381725538INPPL1c.1193C>T (p.Ala398Val)
c.467C>T (p.Ala156Val)
c.377C>T (p.Ala126Val)
c.995C>T (p.Ala332Val)
c.1259C>T (p.Ala420Val)
c.1229C>T (p.Ala410Val)
gnomAD v4
11g.72230465C>ACA475865942INPPL1c.1194C>A (p.Ala398=)
c.468C>A (p.Ala156=)
c.378C>A (p.Ala126=)
c.996C>A (p.Ala332=)
c.1260C>A (p.Ala420=)
c.1230C>A (p.Ala410=)
11g.72230465C>GCA475865943INPPL1c.1194C>G (p.Ala398=)
c.468C>G (p.Ala156=)
c.378C>G (p.Ala126=)
c.996C>G (p.Ala332=)
c.1260C>G (p.Ala420=)
c.1230C>G (p.Ala410=)
11g.72230465C>TCA475865944INPPL1c.1194C>T (p.Ala398=)
c.468C>T (p.Ala156=)
c.378C>T (p.Ala126=)
c.996C>T (p.Ala332=)
c.1260C>T (p.Ala420=)
c.1230C>T (p.Ala410=)
11g.72230466C>ACA475865945INPPL1c.1195C>A (p.Arg399=)
c.469C>A (p.Arg157=)
c.379C>A (p.Arg127=)
c.997C>A (p.Arg333=)
c.1261C>A (p.Arg421=)
c.1231C>A (p.Arg411=)
11g.72230466C=CA1981898084INPPL1c.1195C= (p.Arg399=)
c.469C= (p.Arg157=)
c.379C= (p.Arg127=)
c.997C= (p.Arg333=)
c.1261C= (p.Arg421=)
c.1231C= (p.Arg411=)
11g.72230466C>GCA381725539INPPL1c.1195C>G (p.Arg399Gly)
c.469C>G (p.Arg157Gly)
c.379C>G (p.Arg127Gly)
c.997C>G (p.Arg333Gly)
c.1261C>G (p.Arg421Gly)
c.1231C>G (p.Arg411Gly)
gnomAD v4
11g.72230466C>TCA381725540INPPL1c.1195C>T (p.Arg399Trp)
c.469C>T (p.Arg157Trp)
c.379C>T (p.Arg127Trp)
c.997C>T (p.Arg333Trp)
c.1261C>T (p.Arg421Trp)
c.1231C>T (p.Arg411Trp)
dbSNP gnomAD v2 gnomAD v4
11g.72230467G>ACA6169929INPPL1c.1196G>A (p.Arg399Gln)
c.470G>A (p.Arg157Gln)
c.380G>A (p.Arg127Gln)
c.998G>A (p.Arg333Gln)
c.1262G>A (p.Arg421Gln)
c.1232G>A (p.Arg411Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230467G>CCA381725554INPPL1c.1196G>C (p.Arg399Pro)
c.470G>C (p.Arg157Pro)
c.380G>C (p.Arg127Pro)
c.998G>C (p.Arg333Pro)
c.1262G>C (p.Arg421Pro)
c.1232G>C (p.Arg411Pro)
gnomAD v4
11g.72230467G=CA1981898085INPPL1c.1196G= (p.Arg399=)
c.470G= (p.Arg157=)
c.380G= (p.Arg127=)
c.998G= (p.Arg333=)
c.1262G= (p.Arg421=)
c.1232G= (p.Arg411=)
11g.72230467G>TCA381725556INPPL1c.1196G>T (p.Arg399Leu)
c.470G>T (p.Arg157Leu)
c.380G>T (p.Arg127Leu)
c.998G>T (p.Arg333Leu)
c.1262G>T (p.Arg421Leu)
c.1232G>T (p.Arg411Leu)
11g.72230468G>ACA475865946INPPL1c.1197G>A (p.Arg399=)
c.471G>A (p.Arg157=)
c.381G>A (p.Arg127=)
c.999G>A (p.Arg333=)
c.1263G>A (p.Arg421=)
c.1233G>A (p.Arg411=)
11g.72230468G>CCA475865947INPPL1c.1197G>C (p.Arg399=)
c.471G>C (p.Arg157=)
c.381G>C (p.Arg127=)
c.999G>C (p.Arg333=)
c.1263G>C (p.Arg421=)
c.1233G>C (p.Arg411=)
11g.72230468G>TCA475865948INPPL1c.1197G>T (p.Arg399=)
c.471G>T (p.Arg157=)
c.381G>T (p.Arg127=)
c.999G>T (p.Arg333=)
c.1263G>T (p.Arg421=)
c.1233G>T (p.Arg411=)
11g.72230469G>ACA381725562INPPL1c.1197+1G>A (n.1197+1G>A)
c.471+1G>A (n.471+1G>A)
c.999+1G>A (n.999+1G>A)
c.1263+1G>A (n.1263+1G>A)
c.1233+1G>A (n.1233+1G>A)
11g.72230469G>CCA381725560INPPL1c.1197+1G>C (n.1197+1G>C)
c.471+1G>C (n.471+1G>C)
c.999+1G>C (n.999+1G>C)
c.1263+1G>C (n.1263+1G>C)
c.1233+1G>C (n.1233+1G>C)
11g.72230469G=CA1981898086INPPL1c.1197+1G= (n.1197+1G=)
c.471+1G= (n.471+1G=)
c.999+1G= (n.999+1G=)
c.1263+1G= (n.1263+1G=)
c.1233+1G= (n.1233+1G=)
11g.72230469G>TCA6169930INPPL1c.1197+1G>T (n.1197+1G>T)
c.471+1G>T (n.471+1G>T)
c.999+1G>T (n.999+1G>T)
c.1263+1G>T (n.1263+1G>T)
c.1233+1G>T (n.1233+1G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230470T>ACA381725569INPPL1c.1197+2T>A (n.1197+2T>A)
c.471+2T>A (n.471+2T>A)
c.999+2T>A (n.999+2T>A)
c.1263+2T>A (n.1263+2T>A)
c.1233+2T>A (n.1233+2T>A)
11g.72230470T>CCA381725566INPPL1c.1197+2T>C (n.1197+2T>C)
c.471+2T>C (n.471+2T>C)
c.999+2T>C (n.999+2T>C)
c.1263+2T>C (n.1263+2T>C)
c.1233+2T>C (n.1233+2T>C)
11g.72230470T>GCA381725571INPPL1c.1197+2T>G (n.1197+2T>G)
c.471+2T>G (n.471+2T>G)
c.999+2T>G (n.999+2T>G)
c.1263+2T>G (n.1263+2T>G)
c.1233+2T>G (n.1233+2T>G)
11g.72230471_72230474dupCA2614932206INPPL1c.1197+3_1197+6dup (n.1197+3_1197+6dup)
c.471+3_471+6dup (n.471+3_471+6dup)
c.999+3_999+6dup (n.999+3_999+6dup)
c.1263+3_1263+6dup (n.1263+3_1263+6dup)
c.1233+3_1233+6dup (n.1233+3_1233+6dup)
gnomAD v4
11g.72230472A=CA1981898087INPPL1c.1197+4A= (n.1197+4A=)
c.471+4A= (n.471+4A=)
c.999+4A= (n.999+4A=)
c.1263+4A= (n.1263+4A=)
c.1233+4A= (n.1233+4A=)
11g.72230472A>GCA679977112INPPL1c.1197+4A>G (n.1197+4A>G)
c.471+4A>G (n.471+4A>G)
c.999+4A>G (n.999+4A>G)
c.1263+4A>G (n.1263+4A>G)
c.1233+4A>G (n.1233+4A>G)
dbSNP gnomAD v3 gnomAD v4
11g.72230473G>ACA6169931INPPL1c.1197+5G>A (n.1197+5G>A)
c.471+5G>A (n.471+5G>A)
c.999+5G>A (n.999+5G>A)
c.1263+5G>A (n.1263+5G>A)
c.1233+5G>A (n.1233+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230473G=CA1981898088INPPL1c.1197+5G= (n.1197+5G=)
c.471+5G= (n.471+5G=)
c.999+5G= (n.999+5G=)
c.1263+5G= (n.1263+5G=)
c.1233+5G= (n.1233+5G=)
11g.72230475A>GCA2574912889INPPL1c.1197+7A>G (n.1197+7A>G)
c.471+7A>G (n.471+7A>G)
c.999+7A>G (n.999+7A>G)
c.1263+7A>G (n.1263+7A>G)
c.1233+7A>G (n.1233+7A>G)
11g.72230476G>ACA6169932INPPL1c.1197+8G>A (n.1197+8G>A)
c.471+8G>A (n.471+8G>A)
c.999+8G>A (n.999+8G>A)
c.1263+8G>A (n.1263+8G>A)
c.1233+8G>A (n.1233+8G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230476G=CA1981898089INPPL1c.1197+8G= (n.1197+8G=)
c.471+8G= (n.471+8G=)
c.999+8G= (n.999+8G=)
c.1263+8G= (n.1263+8G=)
c.1233+8G= (n.1233+8G=)
11g.72230476_72230477delinsGCCA1981898090INPPL1c.1197+8_1197+9delinsGC (n.1197+8_1197+9delinsGC)
c.471+8_471+9delinsGC (n.471+8_471+9delinsGC)
c.999+8_999+9delinsGC (n.999+8_999+9delinsGC)
c.1263+8_1263+9delinsGC (n.1263+8_1263+9delinsGC)
c.1233+8_1233+9delinsGC (n.1233+8_1233+9delinsGC)
11g.72230477delCA679977116INPPL1c.1197+9del (n.1197+9del)
c.471+9del (n.471+9del)
c.999+9del (n.999+9del)
c.1263+9del (n.1263+9del)
c.1233+9del (n.1233+9del)
dbSNP gnomAD v4
11g.72230477C=CA1981898091INPPL1c.1197+9C= (n.1197+9C=)
c.471+9C= (n.471+9C=)
c.999+9C= (n.999+9C=)
c.1263+9C= (n.1263+9C=)
c.1233+9C= (n.1233+9C=)
11g.72230477C>TCA600243024INPPL1c.1197+9C>T (n.1197+9C>T)
c.471+9C>T (n.471+9C>T)
c.999+9C>T (n.999+9C>T)
c.1263+9C>T (n.1263+9C>T)
c.1233+9C>T (n.1233+9C>T)
dbSNP gnomAD v2 gnomAD v4
11g.72230478A>CCA2614932207INPPL1c.1197+10A>C (n.1197+10A>C)
c.471+10A>C (n.471+10A>C)
c.999+10A>C (n.999+10A>C)
c.1263+10A>C (n.1263+10A>C)
c.1233+10A>C (n.1233+10A>C)
gnomAD v4
11g.72230478A>GCA2614932208INPPL1c.1197+10A>G (n.1197+10A>G)
c.471+10A>G (n.471+10A>G)
c.999+10A>G (n.999+10A>G)
c.1263+10A>G (n.1263+10A>G)
c.1233+10A>G (n.1233+10A>G)
gnomAD v4
11g.72230480G>ACA2614932209INPPL1c.1197+12G>A (n.1197+12G>A)
c.471+12G>A (n.471+12G>A)
c.999+12G>A (n.999+12G>A)
c.1263+12G>A (n.1263+12G>A)
c.1233+12G>A (n.1233+12G>A)
gnomAD v4
11g.72230480G>CCA6169933INPPL1c.1197+12G>C (n.1197+12G>C)
c.471+12G>C (n.471+12G>C)
c.999+12G>C (n.999+12G>C)
c.1263+12G>C (n.1263+12G>C)
c.1233+12G>C (n.1233+12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230480G=CA1981898092INPPL1c.1197+12G= (n.1197+12G=)
c.471+12G= (n.471+12G=)
c.999+12G= (n.999+12G=)
c.1263+12G= (n.1263+12G=)
c.1233+12G= (n.1233+12G=)
11g.72230481C=CA1981898093INPPL1c.1197+13C= (n.1197+13C=)
c.471+13C= (n.471+13C=)
c.999+13C= (n.999+13C=)
c.1263+13C= (n.1263+13C=)
c.1233+13C= (n.1233+13C=)
11g.72230481C>TCA939440617INPPL1c.1197+13C>T (n.1197+13C>T)
c.471+13C>T (n.471+13C>T)
c.999+13C>T (n.999+13C>T)
c.1263+13C>T (n.1263+13C>T)
c.1233+13C>T (n.1233+13C>T)
dbSNP gnomAD v3 gnomAD v4
11g.72230482T>CCA2614932210INPPL1c.1197+14T>C (n.1197+14T>C)
c.471+14T>C (n.471+14T>C)
c.999+14T>C (n.999+14T>C)
c.1263+14T>C (n.1263+14T>C)
c.1233+14T>C (n.1233+14T>C)
gnomAD v4
11g.72230483G>ACA6169934INPPL1c.1197+15G>A (n.1197+15G>A)
c.471+15G>A (n.471+15G>A)
c.999+15G>A (n.999+15G>A)
c.1263+15G>A (n.1263+15G>A)
c.1233+15G>A (n.1233+15G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230483G=CA1981898094INPPL1c.1197+15G= (n.1197+15G=)
c.471+15G= (n.471+15G=)
c.999+15G= (n.999+15G=)
c.1263+15G= (n.1263+15G=)
c.1233+15G= (n.1233+15G=)
11g.72230484G>ACA2614932211INPPL1c.1197+16G>A (n.1197+16G>A)
c.471+16G>A (n.471+16G>A)
c.999+16G>A (n.999+16G>A)
c.1263+16G>A (n.1263+16G>A)
c.1233+16G>A (n.1233+16G>A)
gnomAD v4
11g.72230485G>ACA2614932212INPPL1c.1197+17G>A (n.1197+17G>A)
c.471+17G>A (n.471+17G>A)
c.999+17G>A (n.999+17G>A)
c.1263+17G>A (n.1263+17G>A)
c.1233+17G>A (n.1233+17G>A)
gnomAD v4
11g.72230486C>ACA2518812852INPPL1c.1197+18C>A (n.1197+18C>A)
c.471+18C>A (n.471+18C>A)
c.999+18C>A (n.999+18C>A)
c.1263+18C>A (n.1263+18C>A)
c.1233+18C>A (n.1233+18C>A)
gnomAD v4
11g.72230486C>TCA2614932213INPPL1c.1197+18C>T (n.1197+18C>T)
c.471+18C>T (n.471+18C>T)
c.999+18C>T (n.999+18C>T)
c.1263+18C>T (n.1263+18C>T)
c.1233+18C>T (n.1233+18C>T)
gnomAD v4
11g.72230487C=CA1981898095INPPL1c.1197+19C= (n.1197+19C=)
c.471+19C= (n.471+19C=)
c.999+19C= (n.999+19C=)
c.1263+19C= (n.1263+19C=)
c.1233+19C= (n.1233+19C=)
11g.72230487C>TCA1981898096INPPL1c.1197+19C>T (n.1197+19C>T)
c.471+19C>T (n.471+19C>T)
c.999+19C>T (n.999+19C>T)
c.1263+19C>T (n.1263+19C>T)
c.1233+19C>T (n.1233+19C>T)
dbSNP
11g.72230489G>CCA2614932214INPPL1c.1197+21G>C (n.1197+21G>C)
c.471+21G>C (n.471+21G>C)
c.999+21G>C (n.999+21G>C)
c.1263+21G>C (n.1263+21G>C)
c.1233+21G>C (n.1233+21G>C)
gnomAD v4
11g.72230491C>TCA2574912890INPPL1c.1197+23C>T (n.1197+23C>T)
c.471+23C>T (n.471+23C>T)
c.999+23C>T (n.999+23C>T)
c.1263+23C>T (n.1263+23C>T)
c.1233+23C>T (n.1233+23C>T)
gnomAD v4
11g.72230492C=CA1981898097INPPL1c.1197+24C= (n.1197+24C=)
c.471+24C= (n.471+24C=)
c.999+24C= (n.999+24C=)
c.1263+24C= (n.1263+24C=)
c.1233+24C= (n.1233+24C=)
11g.72230492C>TCA600243025INPPL1c.1197+24C>T (n.1197+24C>T)
c.471+24C>T (n.471+24C>T)
c.999+24C>T (n.999+24C>T)
c.1263+24C>T (n.1263+24C>T)
c.1233+24C>T (n.1233+24C>T)
dbSNP gnomAD v2 gnomAD v4
11g.72230493A=CA1981898098INPPL1c.1197+25A= (n.1197+25A=)
c.471+25A= (n.471+25A=)
c.999+25A= (n.999+25A=)
c.1263+25A= (n.1263+25A=)
c.1233+25A= (n.1233+25A=)
11g.72230493A>GCA2614932215INPPL1c.1197+25A>G (n.1197+25A>G)
c.471+25A>G (n.471+25A>G)
c.999+25A>G (n.999+25A>G)
c.1263+25A>G (n.1263+25A>G)
c.1233+25A>G (n.1233+25A>G)
gnomAD v4
11g.72230493A>TCA6169935INPPL1c.1197+25A>T (n.1197+25A>T)
c.471+25A>T (n.471+25A>T)
c.999+25A>T (n.999+25A>T)
c.1263+25A>T (n.1263+25A>T)
c.1233+25A>T (n.1233+25A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched