Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72230215T>ACA381724520INPPL1c.1034T>A (p.Leu345Gln)
c.308T>A (p.Leu103Gln)
c.218T>A (p.Leu73Gln)
c.836T>A (p.Leu279Gln)
c.1100T>A (p.Leu367Gln)
c.1070T>A (p.Leu357Gln)
11g.72230215T>CCA381724512INPPL1c.1034T>C (p.Leu345Pro)
c.308T>C (p.Leu103Pro)
c.218T>C (p.Leu73Pro)
c.836T>C (p.Leu279Pro)
c.1100T>C (p.Leu367Pro)
c.1070T>C (p.Leu357Pro)
 gnomAD v4
11g.72230215T>GCA381724518INPPL1c.1034T>G (p.Leu345Arg)
c.308T>G (p.Leu103Arg)
c.218T>G (p.Leu73Arg)
c.836T>G (p.Leu279Arg)
c.1100T>G (p.Leu367Arg)
c.1070T>G (p.Leu357Arg)
11g.72230216G>ACA6169868INPPL1c.1035G>A (p.Leu345=)
c.309G>A (p.Leu103=)
c.219G>A (p.Leu73=)
c.837G>A (p.Leu279=)
c.1101G>A (p.Leu367=)
c.1071G>A (p.Leu357=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230216G>CCA475866019INPPL1c.1035G>C (p.Leu345=)
c.309G>C (p.Leu103=)
c.219G>C (p.Leu73=)
c.837G>C (p.Leu279=)
c.1101G>C (p.Leu367=)
c.1071G>C (p.Leu357=)
11g.72230216G=CA1981897972INPPL1c.1035G= (p.Leu345=)
c.309G= (p.Leu103=)
c.219G= (p.Leu73=)
c.837G= (p.Leu279=)
c.1101G= (p.Leu367=)
c.1071G= (p.Leu357=)
11g.72230216G>TCA475866020INPPL1c.1035G>T (p.Leu345=)
c.309G>T (p.Leu103=)
c.219G>T (p.Leu73=)
c.837G>T (p.Leu279=)
c.1101G>T (p.Leu367=)
c.1071G>T (p.Leu357=)
 dbSNP
11g.72230217C>ACA381724524INPPL1c.1036C>A (p.Leu346Met)
c.310C>A (p.Leu104Met)
c.220C>A (p.Leu74Met)
c.838C>A (p.Leu280Met)
c.1102C>A (p.Leu368Met)
c.1072C>A (p.Leu358Met)
11g.72230217C=CA1981897973INPPL1c.1036C= (p.Leu346=)
c.310C= (p.Leu104=)
c.220C= (p.Leu74=)
c.838C= (p.Leu280=)
c.1102C= (p.Leu368=)
c.1072C= (p.Leu358=)
11g.72230217C>GCA381724527INPPL1c.1036C>G (p.Leu346Val)
c.310C>G (p.Leu104Val)
c.220C>G (p.Leu74Val)
c.838C>G (p.Leu280Val)
c.1102C>G (p.Leu368Val)
c.1072C>G (p.Leu358Val)
11g.72230217C>TCA475866021INPPL1c.1036C>T (p.Leu346=)
c.310C>T (p.Leu104=)
c.220C>T (p.Leu74=)
c.838C>T (p.Leu280=)
c.1102C>T (p.Leu368=)
c.1072C>T (p.Leu358=)
 dbSNP gnomAD v2
11g.72230218T>ACA381724528INPPL1c.1037T>A (p.Leu346Gln)
c.311T>A (p.Leu104Gln)
c.221T>A (p.Leu74Gln)
c.839T>A (p.Leu280Gln)
c.1103T>A (p.Leu368Gln)
c.1073T>A (p.Leu358Gln)
11g.72230218T>CCA381724530INPPL1c.1037T>C (p.Leu346Pro)
c.311T>C (p.Leu104Pro)
c.221T>C (p.Leu74Pro)
c.839T>C (p.Leu280Pro)
c.1103T>C (p.Leu368Pro)
c.1073T>C (p.Leu358Pro)
 gnomAD v4
11g.72230218T>GCA381724533INPPL1c.1037T>G (p.Leu346Arg)
c.311T>G (p.Leu104Arg)
c.221T>G (p.Leu74Arg)
c.839T>G (p.Leu280Arg)
c.1103T>G (p.Leu368Arg)
c.1073T>G (p.Leu358Arg)
11g.72230219G>ACA475866022INPPL1c.1038G>A (p.Leu346=)
c.312G>A (p.Leu104=)
c.222G>A (p.Leu74=)
c.840G>A (p.Leu280=)
c.1104G>A (p.Leu368=)
c.1074G>A (p.Leu358=)
11g.72230219G>CCA475866023INPPL1c.1038G>C (p.Leu346=)
c.312G>C (p.Leu104=)
c.222G>C (p.Leu74=)
c.840G>C (p.Leu280=)
c.1104G>C (p.Leu368=)
c.1074G>C (p.Leu358=)
11g.72230219G>TCA475866024INPPL1c.1038G>T (p.Leu346=)
c.312G>T (p.Leu104=)
c.222G>T (p.Leu74=)
c.840G>T (p.Leu280=)
c.1104G>T (p.Leu368=)
c.1074G>T (p.Leu358=)
11g.72230220C>ACA475866025INPPL1c.1039C>A (p.Arg347=)
c.313C>A (p.Arg105=)
c.223C>A (p.Arg75=)
c.841C>A (p.Arg281=)
c.1105C>A (p.Arg369=)
c.1075C>A (p.Arg359=)
11g.72230220C=CA1981897974INPPL1c.1039C= (p.Arg347=)
c.313C= (p.Arg105=)
c.223C= (p.Arg75=)
c.841C= (p.Arg281=)
c.1105C= (p.Arg369=)
c.1075C= (p.Arg359=)
11g.72230220C>GCA381724535INPPL1c.1039C>G (p.Arg347Gly)
c.313C>G (p.Arg105Gly)
c.223C>G (p.Arg75Gly)
c.841C>G (p.Arg281Gly)
c.1105C>G (p.Arg369Gly)
c.1075C>G (p.Arg359Gly)
11g.72230220C>TCA6169869INPPL1c.1039C>T (p.Arg347Trp)
c.313C>T (p.Arg105Trp)
c.223C>T (p.Arg75Trp)
c.841C>T (p.Arg281Trp)
c.1105C>T (p.Arg369Trp)
c.1075C>T (p.Arg359Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230221G>ACA6169870INPPL1c.1040G>A (p.Arg347Gln)
c.314G>A (p.Arg105Gln)
c.224G>A (p.Arg75Gln)
c.842G>A (p.Arg281Gln)
c.1106G>A (p.Arg369Gln)
c.1076G>A (p.Arg359Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72230221G>CCA381724550INPPL1c.1040G>C (p.Arg347Pro)
c.314G>C (p.Arg105Pro)
c.224G>C (p.Arg75Pro)
c.842G>C (p.Arg281Pro)
c.1106G>C (p.Arg369Pro)
c.1076G>C (p.Arg359Pro)
11g.72230221G=CA1981897975INPPL1c.1040G= (p.Arg347=)
c.314G= (p.Arg105=)
c.224G= (p.Arg75=)
c.842G= (p.Arg281=)
c.1106G= (p.Arg369=)
c.1076G= (p.Arg359=)
11g.72230221G>TCA381724560INPPL1c.1040G>T (p.Arg347Leu)
c.314G>T (p.Arg105Leu)
c.224G>T (p.Arg75Leu)
c.842G>T (p.Arg281Leu)
c.1106G>T (p.Arg369Leu)
c.1076G>T (p.Arg359Leu)
11g.72230222delCA2614932092INPPL1c.1041del (p.Arg348AspfsTer?)
c.315del (p.Arg106AspfsTer?)
c.225del (p.Arg76AspfsTer?)
c.843del (p.Arg282AspfsTer?)
c.1107del (p.Arg370AspfsTer?)
c.1077del (p.Arg360AspfsTer?)
 gnomAD v4
11g.72230224_72230233delCA2614932093INPPL1c.1043_1052del (p.Arg348ThrfsTer?)
c.317_326del (p.Arg106ThrfsTer?)
c.227_236del (p.Arg76ThrfsTer?)
c.845_854del (p.Arg282ThrfsTer?)
c.1109_1118del (p.Arg370ThrfsTer?)
c.1079_1088del (p.Arg360ThrfsTer?)
 gnomAD v4
11g.72230222G>ACA475866028INPPL1c.1041G>A (p.Arg347=)
c.315G>A (p.Arg105=)
c.225G>A (p.Arg75=)
c.843G>A (p.Arg281=)
c.1107G>A (p.Arg369=)
c.1077G>A (p.Arg359=)
11g.72230222G>CCA475866027INPPL1c.1041G>C (p.Arg347=)
c.315G>C (p.Arg105=)
c.225G>C (p.Arg75=)
c.843G>C (p.Arg281=)
c.1107G>C (p.Arg369=)
c.1077G>C (p.Arg359=)
 gnomAD v4
11g.72230222G>TCA475866026INPPL1c.1041G>T (p.Arg347=)
c.315G>T (p.Arg105=)
c.225G>T (p.Arg75=)
c.843G>T (p.Arg281=)
c.1107G>T (p.Arg369=)
c.1077G>T (p.Arg359=)
11g.72230223A>CCA475866029INPPL1c.1042A>C (p.Arg348=)
c.316A>C (p.Arg106=)
c.226A>C (p.Arg76=)
c.844A>C (p.Arg282=)
c.1108A>C (p.Arg370=)
c.1078A>C (p.Arg360=)
11g.72230223A>GCA381724564INPPL1c.1042A>G (p.Arg348Gly)
c.316A>G (p.Arg106Gly)
c.226A>G (p.Arg76Gly)
c.844A>G (p.Arg282Gly)
c.1108A>G (p.Arg370Gly)
c.1078A>G (p.Arg360Gly)
11g.72230223A>TCA381724565INPPL1c.1042A>T (p.Arg348Ter)
c.316A>T (p.Arg106Ter)
c.226A>T (p.Arg76Ter)
c.844A>T (p.Arg282Ter)
c.1108A>T (p.Arg370Ter)
c.1078A>T (p.Arg360Ter)
11g.72230224G>ACA381724567INPPL1c.1043G>A (p.Arg348Lys)
c.317G>A (p.Arg106Lys)
c.227G>A (p.Arg76Lys)
c.845G>A (p.Arg282Lys)
c.1109G>A (p.Arg370Lys)
c.1079G>A (p.Arg360Lys)
11g.72230224G>CCA381724568INPPL1c.1043G>C (p.Arg348Thr)
c.317G>C (p.Arg106Thr)
c.227G>C (p.Arg76Thr)
c.845G>C (p.Arg282Thr)
c.1109G>C (p.Arg370Thr)
c.1079G>C (p.Arg360Thr)
 gnomAD v4
11g.72230224G>TCA381724570INPPL1c.1043G>T (p.Arg348Ile)
c.317G>T (p.Arg106Ile)
c.227G>T (p.Arg76Ile)
c.845G>T (p.Arg282Ile)
c.1109G>T (p.Arg370Ile)
c.1079G>T (p.Arg360Ile)
11g.72230225A>CCA381724573INPPL1c.1044A>C (p.Arg348Ser)
c.318A>C (p.Arg106Ser)
c.228A>C (p.Arg76Ser)
c.846A>C (p.Arg282Ser)
c.1110A>C (p.Arg370Ser)
c.1080A>C (p.Arg360Ser)
11g.72230225A>GCA475866030INPPL1c.1044A>G (p.Arg348=)
c.318A>G (p.Arg106=)
c.228A>G (p.Arg76=)
c.846A>G (p.Arg282=)
c.1110A>G (p.Arg370=)
c.1080A>G (p.Arg360=)
 gnomAD v4
11g.72230225A>TCA381724578INPPL1c.1044A>T (p.Arg348Ser)
c.318A>T (p.Arg106Ser)
c.228A>T (p.Arg76Ser)
c.846A>T (p.Arg282Ser)
c.1110A>T (p.Arg370Ser)
c.1080A>T (p.Arg360Ser)
11g.72230226C>ACA381724582INPPL1c.1045C>A (p.Gln349Lys)
c.319C>A (p.Gln107Lys)
c.229C>A (p.Gln77Lys)
c.847C>A (p.Gln283Lys)
c.1111C>A (p.Gln371Lys)
c.1081C>A (p.Gln361Lys)
11g.72230226C>GCA381724585INPPL1c.1045C>G (p.Gln349Glu)
c.319C>G (p.Gln107Glu)
c.229C>G (p.Gln77Glu)
c.847C>G (p.Gln283Glu)
c.1111C>G (p.Gln371Glu)
c.1081C>G (p.Gln361Glu)
11g.72230226C>TCA381724587INPPL1c.1045C>T (p.Gln349Ter)
c.319C>T (p.Gln107Ter)
c.229C>T (p.Gln77Ter)
c.847C>T (p.Gln283Ter)
c.1111C>T (p.Gln371Ter)
c.1081C>T (p.Gln361Ter)
 gnomAD v4
11g.72230227A>CCA381724595INPPL1c.1046A>C (p.Gln349Pro)
c.320A>C (p.Gln107Pro)
c.230A>C (p.Gln77Pro)
c.848A>C (p.Gln283Pro)
c.1112A>C (p.Gln371Pro)
c.1082A>C (p.Gln361Pro)
11g.72230227A>GCA381724597INPPL1c.1046A>G (p.Gln349Arg)
c.320A>G (p.Gln107Arg)
c.230A>G (p.Gln77Arg)
c.848A>G (p.Gln283Arg)
c.1112A>G (p.Gln371Arg)
c.1082A>G (p.Gln361Arg)
11g.72230227A>TCA381724600INPPL1c.1046A>T (p.Gln349Leu)
c.320A>T (p.Gln107Leu)
c.230A>T (p.Gln77Leu)
c.848A>T (p.Gln283Leu)
c.1112A>T (p.Gln371Leu)
c.1082A>T (p.Gln361Leu)
11g.72230228G>ACA6169871INPPL1c.1047G>A (p.Gln349=)
c.321G>A (p.Gln107=)
c.231G>A (p.Gln77=)
c.849G>A (p.Gln283=)
c.1113G>A (p.Gln371=)
c.1083G>A (p.Gln361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230228G>CCA381724607INPPL1c.1047G>C (p.Gln349His)
c.321G>C (p.Gln107His)
c.231G>C (p.Gln77His)
c.849G>C (p.Gln283His)
c.1113G>C (p.Gln371His)
c.1083G>C (p.Gln361His)
11g.72230228G=CA1981897976INPPL1c.1047G= (p.Gln349=)
c.321G= (p.Gln107=)
c.231G= (p.Gln77=)
c.849G= (p.Gln283=)
c.1113G= (p.Gln371=)
c.1083G= (p.Gln361=)
11g.72230228G>TCA381724605INPPL1c.1047G>T (p.Gln349His)
c.321G>T (p.Gln107His)
c.231G>T (p.Gln77His)
c.849G>T (p.Gln283His)
c.1113G>T (p.Gln371His)
c.1083G>T (p.Gln361His)
11g.72230229C>ACA475866031INPPL1c.1048C>A (p.Arg350=)
c.322C>A (p.Arg108=)
c.232C>A (p.Arg78=)
c.850C>A (p.Arg284=)
c.1114C>A (p.Arg372=)
c.1084C>A (p.Arg362=)
11g.72230229C=CA1981897977INPPL1c.1048C= (p.Arg350=)
c.322C= (p.Arg108=)
c.232C= (p.Arg78=)
c.850C= (p.Arg284=)
c.1114C= (p.Arg372=)
c.1084C= (p.Arg362=)
11g.72230229C>GCA381724610INPPL1c.1048C>G (p.Arg350Gly)
c.322C>G (p.Arg108Gly)
c.232C>G (p.Arg78Gly)
c.850C>G (p.Arg284Gly)
c.1114C>G (p.Arg372Gly)
c.1084C>G (p.Arg362Gly)
11g.72230229C>TCA6169872INPPL1c.1048C>T (p.Arg350Trp)
c.322C>T (p.Arg108Trp)
c.232C>T (p.Arg78Trp)
c.850C>T (p.Arg284Trp)
c.1114C>T (p.Arg372Trp)
c.1084C>T (p.Arg362Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230230G>ACA6169873INPPL1c.1049G>A (p.Arg350Gln)
c.323G>A (p.Arg108Gln)
c.233G>A (p.Arg78Gln)
c.851G>A (p.Arg284Gln)
c.1115G>A (p.Arg372Gln)
c.1085G>A (p.Arg362Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230230G>CCA381724615INPPL1c.1049G>C (p.Arg350Pro)
c.323G>C (p.Arg108Pro)
c.233G>C (p.Arg78Pro)
c.851G>C (p.Arg284Pro)
c.1115G>C (p.Arg372Pro)
c.1085G>C (p.Arg362Pro)
11g.72230230G=CA1981897978INPPL1c.1049G= (p.Arg350=)
c.323G= (p.Arg108=)
c.233G= (p.Arg78=)
c.851G= (p.Arg284=)
c.1115G= (p.Arg372=)
c.1085G= (p.Arg362=)
11g.72230230G>TCA381724618INPPL1c.1049G>T (p.Arg350Leu)
c.323G>T (p.Arg108Leu)
c.233G>T (p.Arg78Leu)
c.851G>T (p.Arg284Leu)
c.1115G>T (p.Arg372Leu)
c.1085G>T (p.Arg362Leu)
11g.72230231G>ACA475866032INPPL1c.1050G>A (p.Arg350=)
c.324G>A (p.Arg108=)
c.234G>A (p.Arg78=)
c.852G>A (p.Arg284=)
c.1116G>A (p.Arg372=)
c.1086G>A (p.Arg362=)
11g.72230231G>CCA475866033INPPL1c.1050G>C (p.Arg350=)
c.324G>C (p.Arg108=)
c.234G>C (p.Arg78=)
c.852G>C (p.Arg284=)
c.1116G>C (p.Arg372=)
c.1086G>C (p.Arg362=)
11g.72230231G>TCA475866034INPPL1c.1050G>T (p.Arg350=)
c.324G>T (p.Arg108=)
c.234G>T (p.Arg78=)
c.852G>T (p.Arg284=)
c.1116G>T (p.Arg372=)
c.1086G>T (p.Arg362=)
11g.72230232G>ACA381724622INPPL1c.1051G>A (p.Asp351Asn)
c.325G>A (p.Asp109Asn)
c.235G>A (p.Asp79Asn)
c.853G>A (p.Asp285Asn)
c.1117G>A (p.Asp373Asn)
c.1087G>A (p.Asp363Asn)
11g.72230232G>CCA381724625INPPL1c.1051G>C (p.Asp351His)
c.325G>C (p.Asp109His)
c.235G>C (p.Asp79His)
c.853G>C (p.Asp285His)
c.1117G>C (p.Asp373His)
c.1087G>C (p.Asp363His)
11g.72230232G>TCA381724627INPPL1c.1051G>T (p.Asp351Tyr)
c.325G>T (p.Asp109Tyr)
c.235G>T (p.Asp79Tyr)
c.853G>T (p.Asp285Tyr)
c.1117G>T (p.Asp373Tyr)
c.1087G>T (p.Asp363Tyr)
11g.72230233A>CCA381724629INPPL1c.1052A>C (p.Asp351Ala)
c.326A>C (p.Asp109Ala)
c.236A>C (p.Asp79Ala)
c.854A>C (p.Asp285Ala)
c.1118A>C (p.Asp373Ala)
c.1088A>C (p.Asp363Ala)
11g.72230233A>GCA381724631INPPL1c.1052A>G (p.Asp351Gly)
c.326A>G (p.Asp109Gly)
c.236A>G (p.Asp79Gly)
c.854A>G (p.Asp285Gly)
c.1118A>G (p.Asp373Gly)
c.1088A>G (p.Asp363Gly)
11g.72230233A>TCA381724633INPPL1c.1052A>T (p.Asp351Val)
c.326A>T (p.Asp109Val)
c.236A>T (p.Asp79Val)
c.854A>T (p.Asp285Val)
c.1118A>T (p.Asp373Val)
c.1088A>T (p.Asp363Val)
11g.72230234C>ACA381724637INPPL1c.1053C>A (p.Asp351Glu)
c.327C>A (p.Asp109Glu)
c.237C>A (p.Asp79Glu)
c.855C>A (p.Asp285Glu)
c.1119C>A (p.Asp373Glu)
c.1089C>A (p.Asp363Glu)
 gnomAD v4
11g.72230234C>GCA381724640INPPL1c.1053C>G (p.Asp351Glu)
c.327C>G (p.Asp109Glu)
c.237C>G (p.Asp79Glu)
c.855C>G (p.Asp285Glu)
c.1119C>G (p.Asp373Glu)
c.1089C>G (p.Asp363Glu)
11g.72230234C>TCA475866035INPPL1c.1053C>T (p.Asp351=)
c.327C>T (p.Asp109=)
c.237C>T (p.Asp79=)
c.855C>T (p.Asp285=)
c.1119C>T (p.Asp373=)
c.1089C>T (p.Asp363=)
 gnomAD v4
11g.72230235T>ACA381724646INPPL1c.1054T>A (p.Ser352Thr)
c.328T>A (p.Ser110Thr)
c.238T>A (p.Ser80Thr)
c.856T>A (p.Ser286Thr)
c.1120T>A (p.Ser374Thr)
c.1090T>A (p.Ser364Thr)
11g.72230235T>CCA381724651INPPL1c.1054T>C (p.Ser352Pro)
c.328T>C (p.Ser110Pro)
c.238T>C (p.Ser80Pro)
c.856T>C (p.Ser286Pro)
c.1120T>C (p.Ser374Pro)
c.1090T>C (p.Ser364Pro)
11g.72230235T>GCA381724643INPPL1c.1054T>G (p.Ser352Ala)
c.328T>G (p.Ser110Ala)
c.238T>G (p.Ser80Ala)
c.856T>G (p.Ser286Ala)
c.1120T>G (p.Ser374Ala)
c.1090T>G (p.Ser364Ala)
11g.72230236C>ACA381724654INPPL1c.1055C>A (p.Ser352Tyr)
c.329C>A (p.Ser110Tyr)
c.239C>A (p.Ser80Tyr)
c.857C>A (p.Ser286Tyr)
c.1121C>A (p.Ser374Tyr)
c.1091C>A (p.Ser364Tyr)
 gnomAD v4
11g.72230236C>GCA381724655INPPL1c.1055C>G (p.Ser352Cys)
c.329C>G (p.Ser110Cys)
c.239C>G (p.Ser80Cys)
c.857C>G (p.Ser286Cys)
c.1121C>G (p.Ser374Cys)
c.1091C>G (p.Ser364Cys)
11g.72230236C>TCA381724659INPPL1c.1055C>T (p.Ser352Phe)
c.329C>T (p.Ser110Phe)
c.239C>T (p.Ser80Phe)
c.857C>T (p.Ser286Phe)
c.1121C>T (p.Ser374Phe)
c.1091C>T (p.Ser364Phe)
 gnomAD v4
11g.72230237C>ACA475866037INPPL1c.1056C>A (p.Ser352=)
c.330C>A (p.Ser110=)
c.240C>A (p.Ser80=)
c.858C>A (p.Ser286=)
c.1122C>A (p.Ser374=)
c.1092C>A (p.Ser364=)
11g.72230237C=CA1981897979INPPL1c.1056C= (p.Ser352=)
c.330C= (p.Ser110=)
c.240C= (p.Ser80=)
c.858C= (p.Ser286=)
c.1122C= (p.Ser374=)
c.1092C= (p.Ser364=)
11g.72230237C>GCA224375936INPPL1c.1056C>G (p.Ser352=)
c.330C>G (p.Ser110=)
c.240C>G (p.Ser80=)
c.858C>G (p.Ser286=)
c.1122C>G (p.Ser374=)
c.1092C>G (p.Ser364=)
 dbSNP gnomAD v3 gnomAD v4
11g.72230237C>TCA475866036INPPL1c.1056C>T (p.Ser352=)
c.330C>T (p.Ser110=)
c.240C>T (p.Ser80=)
c.858C>T (p.Ser286=)
c.1122C>T (p.Ser374=)
c.1092C>T (p.Ser364=)
 gnomAD v4
11g.72230238C>ACA381724660INPPL1c.1057C>A (p.Gln353Lys)
c.331C>A (p.Gln111Lys)
c.241C>A (p.Gln81Lys)
c.859C>A (p.Gln287Lys)
c.1123C>A (p.Gln375Lys)
c.1093C>A (p.Gln365Lys)
11g.72230238C=CA1981897980INPPL1c.1057C= (p.Gln353=)
c.331C= (p.Gln111=)
c.241C= (p.Gln81=)
c.859C= (p.Gln287=)
c.1123C= (p.Gln375=)
c.1093C= (p.Gln365=)
11g.72230238C>GCA6169874INPPL1c.1057C>G (p.Gln353Glu)
c.331C>G (p.Gln111Glu)
c.241C>G (p.Gln81Glu)
c.859C>G (p.Gln287Glu)
c.1123C>G (p.Gln375Glu)
c.1093C>G (p.Gln365Glu)
 dbSNP ExAC gnomAD v2
11g.72230238C>TCA381724663INPPL1c.1057C>T (p.Gln353Ter)
c.331C>T (p.Gln111Ter)
c.241C>T (p.Gln81Ter)
c.859C>T (p.Gln287Ter)
c.1123C>T (p.Gln375Ter)
c.1093C>T (p.Gln365Ter)
 gnomAD v4
11g.72230239A>CCA381724671INPPL1c.1058A>C (p.Gln353Pro)
c.332A>C (p.Gln111Pro)
c.242A>C (p.Gln81Pro)
c.860A>C (p.Gln287Pro)
c.1124A>C (p.Gln375Pro)
c.1094A>C (p.Gln365Pro)
11g.72230239A>GCA381724667INPPL1c.1058A>G (p.Gln353Arg)
c.332A>G (p.Gln111Arg)
c.242A>G (p.Gln81Arg)
c.860A>G (p.Gln287Arg)
c.1124A>G (p.Gln375Arg)
c.1094A>G (p.Gln365Arg)
11g.72230239A>TCA381724668INPPL1c.1058A>T (p.Gln353Leu)
c.332A>T (p.Gln111Leu)
c.242A>T (p.Gln81Leu)
c.860A>T (p.Gln287Leu)
c.1124A>T (p.Gln375Leu)
c.1094A>T (p.Gln365Leu)
11g.72230240G>ACA475866038INPPL1c.1059G>A (p.Gln353=)
c.333G>A (p.Gln111=)
c.243G>A (p.Gln81=)
c.861G>A (p.Gln287=)
c.1125G>A (p.Gln375=)
c.1095G>A (p.Gln365=)
11g.72230240G>CCA381724676INPPL1c.1059G>C (p.Gln353His)
c.333G>C (p.Gln111His)
c.243G>C (p.Gln81His)
c.861G>C (p.Gln287His)
c.1125G>C (p.Gln375His)
c.1095G>C (p.Gln365His)
11g.72230240G=CA1981897981INPPL1c.1059G= (p.Gln353=)
c.333G= (p.Gln111=)
c.243G= (p.Gln81=)
c.861G= (p.Gln287=)
c.1125G= (p.Gln375=)
c.1095G= (p.Gln365=)
11g.72230240G>TCA6169875INPPL1c.1059G>T (p.Gln353His)
c.333G>T (p.Gln111His)
c.243G>T (p.Gln81His)
c.861G>T (p.Gln287His)
c.1125G>T (p.Gln375His)
c.1095G>T (p.Gln365His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230241G>ACA381724680INPPL1c.1060G>A (p.Glu354Lys)
c.334G>A (p.Glu112Lys)
c.244G>A (p.Glu82Lys)
c.862G>A (p.Glu288Lys)
c.1126G>A (p.Glu376Lys)
c.1096G>A (p.Glu366Lys)
11g.72230241G>CCA381724682INPPL1c.1060G>C (p.Glu354Gln)
c.334G>C (p.Glu112Gln)
c.244G>C (p.Glu82Gln)
c.862G>C (p.Glu288Gln)
c.1126G>C (p.Glu376Gln)
c.1096G>C (p.Glu366Gln)
11g.72230241G>TCA381724686INPPL1c.1060G>T (p.Glu354Ter)
c.334G>T (p.Glu112Ter)
c.244G>T (p.Glu82Ter)
c.862G>T (p.Glu288Ter)
c.1126G>T (p.Glu376Ter)
c.1096G>T (p.Glu366Ter)
11g.72230242A>CCA381724695INPPL1c.1061A>C (p.Glu354Ala)
c.335A>C (p.Glu112Ala)
c.245A>C (p.Glu82Ala)
c.863A>C (p.Glu288Ala)
c.1127A>C (p.Glu376Ala)
c.1097A>C (p.Glu366Ala)
11g.72230242A>GCA381724689INPPL1c.1061A>G (p.Glu354Gly)
c.335A>G (p.Glu112Gly)
c.245A>G (p.Glu82Gly)
c.863A>G (p.Glu288Gly)
c.1127A>G (p.Glu376Gly)
c.1097A>G (p.Glu366Gly)
11g.72230242A>TCA381724694INPPL1c.1061A>T (p.Glu354Val)
c.335A>T (p.Glu112Val)
c.245A>T (p.Glu82Val)
c.863A>T (p.Glu288Val)
c.1127A>T (p.Glu376Val)
c.1097A>T (p.Glu366Val)
11g.72230243G>ACA475866039INPPL1c.1062G>A (p.Glu354=)
c.336G>A (p.Glu112=)
c.246G>A (p.Glu82=)
c.864G>A (p.Glu288=)
c.1128G>A (p.Glu376=)
c.1098G>A (p.Glu366=)
 gnomAD v4
11g.72230243G>CCA381724698INPPL1c.1062G>C (p.Glu354Asp)
c.336G>C (p.Glu112Asp)
c.246G>C (p.Glu82Asp)
c.864G>C (p.Glu288Asp)
c.1128G>C (p.Glu376Asp)
c.1098G>C (p.Glu366Asp)
 dbSNP
11g.72230243G=CA1981897982INPPL1c.1062G= (p.Glu354=)
c.336G= (p.Glu112=)
c.246G= (p.Glu82=)
c.864G= (p.Glu288=)
c.1128G= (p.Glu376=)
c.1098G= (p.Glu366=)
11g.72230243G>TCA381724709INPPL1c.1062G>T (p.Glu354Asp)
c.336G>T (p.Glu112Asp)
c.246G>T (p.Glu82Asp)
c.864G>T (p.Glu288Asp)
c.1128G>T (p.Glu376Asp)
c.1098G>T (p.Glu366Asp)
11g.72230244G>ACA381724711INPPL1c.1063G>A (p.Asp355Asn)
c.337G>A (p.Asp113Asn)
c.247G>A (p.Asp83Asn)
c.865G>A (p.Asp289Asn)
c.1129G>A (p.Asp377Asn)
c.1099G>A (p.Asp367Asn)
11g.72230244G>CCA381724715INPPL1c.1063G>C (p.Asp355His)
c.337G>C (p.Asp113His)
c.247G>C (p.Asp83His)
c.865G>C (p.Asp289His)
c.1129G>C (p.Asp377His)
c.1099G>C (p.Asp367His)
11g.72230244G>TCA381724718INPPL1c.1063G>T (p.Asp355Tyr)
c.337G>T (p.Asp113Tyr)
c.247G>T (p.Asp83Tyr)
c.865G>T (p.Asp289Tyr)
c.1129G>T (p.Asp377Tyr)
c.1099G>T (p.Asp367Tyr)
11g.72230245A>CCA381724721INPPL1c.1064A>C (p.Asp355Ala)
c.338A>C (p.Asp113Ala)
c.248A>C (p.Asp83Ala)
c.866A>C (p.Asp289Ala)
c.1130A>C (p.Asp377Ala)
c.1100A>C (p.Asp367Ala)
11g.72230245A>GCA381724723INPPL1c.1064A>G (p.Asp355Gly)
c.338A>G (p.Asp113Gly)
c.248A>G (p.Asp83Gly)
c.866A>G (p.Asp289Gly)
c.1130A>G (p.Asp377Gly)
c.1100A>G (p.Asp367Gly)
 gnomAD v4
11g.72230245A>TCA381724726INPPL1c.1064A>T (p.Asp355Val)
c.338A>T (p.Asp113Val)
c.248A>T (p.Asp83Val)
c.866A>T (p.Asp289Val)
c.1130A>T (p.Asp377Val)
c.1100A>T (p.Asp367Val)
11g.72230246C>ACA381724730INPPL1c.1065C>A (p.Asp355Glu)
c.339C>A (p.Asp113Glu)
c.249C>A (p.Asp83Glu)
c.867C>A (p.Asp289Glu)
c.1131C>A (p.Asp377Glu)
c.1101C>A (p.Asp367Glu)
11g.72230246C>GCA381724734INPPL1c.1065C>G (p.Asp355Glu)
c.339C>G (p.Asp113Glu)
c.249C>G (p.Asp83Glu)
c.867C>G (p.Asp289Glu)
c.1131C>G (p.Asp377Glu)
c.1101C>G (p.Asp367Glu)
11g.72230246C>TCA475866040INPPL1c.1065C>T (p.Asp355=)
c.339C>T (p.Asp113=)
c.249C>T (p.Asp83=)
c.867C>T (p.Asp289=)
c.1131C>T (p.Asp377=)
c.1101C>T (p.Asp367=)
11g.72230247T>ACA381724736INPPL1c.1066T>A (p.Trp356Arg)
c.340T>A (p.Trp114Arg)
c.250T>A (p.Trp84Arg)
c.868T>A (p.Trp290Arg)
c.1132T>A (p.Trp378Arg)
c.1102T>A (p.Trp368Arg)
11g.72230247T>CCA381724737INPPL1c.1066T>C (p.Trp356Arg)
c.340T>C (p.Trp114Arg)
c.250T>C (p.Trp84Arg)
c.868T>C (p.Trp290Arg)
c.1132T>C (p.Trp378Arg)
c.1102T>C (p.Trp368Arg)
11g.72230247T>GCA381724738INPPL1c.1066T>G (p.Trp356Gly)
c.340T>G (p.Trp114Gly)
c.250T>G (p.Trp84Gly)
c.868T>G (p.Trp290Gly)
c.1132T>G (p.Trp378Gly)
c.1102T>G (p.Trp368Gly)
11g.72230248G>ACA381724741INPPL1c.1067G>A (p.Trp356Ter)
c.341G>A (p.Trp114Ter)
c.251G>A (p.Trp84Ter)
c.869G>A (p.Trp290Ter)
c.1133G>A (p.Trp378Ter)
c.1103G>A (p.Trp368Ter)
11g.72230248G>CCA381724745INPPL1c.1067G>C (p.Trp356Ser)
c.341G>C (p.Trp114Ser)
c.251G>C (p.Trp84Ser)
c.869G>C (p.Trp290Ser)
c.1133G>C (p.Trp378Ser)
c.1103G>C (p.Trp368Ser)
11g.72230248G>TCA381724742INPPL1c.1067G>T (p.Trp356Leu)
c.341G>T (p.Trp114Leu)
c.251G>T (p.Trp84Leu)
c.869G>T (p.Trp290Leu)
c.1133G>T (p.Trp378Leu)
c.1103G>T (p.Trp368Leu)
11g.72230249G>ACA381724748INPPL1c.1068G>A (p.Trp356Ter)
c.342G>A (p.Trp114Ter)
c.252G>A (p.Trp84Ter)
c.870G>A (p.Trp290Ter)
c.1134G>A (p.Trp378Ter)
c.1104G>A (p.Trp368Ter)
 gnomAD v4
11g.72230249G>CCA381724751INPPL1c.1068G>C (p.Trp356Cys)
c.342G>C (p.Trp114Cys)
c.252G>C (p.Trp84Cys)
c.870G>C (p.Trp290Cys)
c.1134G>C (p.Trp378Cys)
c.1104G>C (p.Trp368Cys)
11g.72230249G>TCA381724753INPPL1c.1068G>T (p.Trp356Cys)
c.342G>T (p.Trp114Cys)
c.252G>T (p.Trp84Cys)
c.870G>T (p.Trp290Cys)
c.1134G>T (p.Trp378Cys)
c.1104G>T (p.Trp368Cys)
11g.72230250A=CA1981897983INPPL1c.1069A= (p.Thr357=)
c.343A= (p.Thr115=)
c.253A= (p.Thr85=)
c.871A= (p.Thr291=)
c.1135A= (p.Thr379=)
c.1105A= (p.Thr369=)
11g.72230250A>CCA381724757INPPL1c.1069A>C (p.Thr357Pro)
c.343A>C (p.Thr115Pro)
c.253A>C (p.Thr85Pro)
c.871A>C (p.Thr291Pro)
c.1135A>C (p.Thr379Pro)
c.1105A>C (p.Thr369Pro)
 dbSNP gnomAD v4
11g.72230250A>GCA381724759INPPL1c.1069A>G (p.Thr357Ala)
c.343A>G (p.Thr115Ala)
c.253A>G (p.Thr85Ala)
c.871A>G (p.Thr291Ala)
c.1135A>G (p.Thr379Ala)
c.1105A>G (p.Thr369Ala)
11g.72230250A>TCA381724761INPPL1c.1069A>T (p.Thr357Ser)
c.343A>T (p.Thr115Ser)
c.253A>T (p.Thr85Ser)
c.871A>T (p.Thr291Ser)
c.1135A>T (p.Thr379Ser)
c.1105A>T (p.Thr369Ser)
 gnomAD v4
11g.72230251C>ACA381724765INPPL1c.1070C>A (p.Thr357Asn)
c.344C>A (p.Thr115Asn)
c.254C>A (p.Thr85Asn)
c.872C>A (p.Thr291Asn)
c.1136C>A (p.Thr379Asn)
c.1106C>A (p.Thr369Asn)
 gnomAD v4
11g.72230251C>GCA381724772INPPL1c.1070C>G (p.Thr357Ser)
c.344C>G (p.Thr115Ser)
c.254C>G (p.Thr85Ser)
c.872C>G (p.Thr291Ser)
c.1136C>G (p.Thr379Ser)
c.1106C>G (p.Thr369Ser)
11g.72230251C>TCA381724775INPPL1c.1070C>T (p.Thr357Ile)
c.344C>T (p.Thr115Ile)
c.254C>T (p.Thr85Ile)
c.872C>T (p.Thr291Ile)
c.1136C>T (p.Thr379Ile)
c.1106C>T (p.Thr369Ile)
11g.72230252dupCA2614932146INPPL1c.1071dup (p.Thr358HisfsTer12)
c.345dup (p.Thr116HisfsTer12)
c.255dup (p.Thr86HisfsTer12)
c.873dup (p.Thr292HisfsTer12)
c.1137dup (p.Thr380HisfsTer12)
c.1107dup (p.Thr370HisfsTer12)
 gnomAD v4
11g.72230252C>ACA475866041INPPL1c.1071C>A (p.Thr357=)
c.345C>A (p.Thr115=)
c.255C>A (p.Thr85=)
c.873C>A (p.Thr291=)
c.1137C>A (p.Thr379=)
c.1107C>A (p.Thr369=)
11g.72230252C=CA1981897984INPPL1c.1071C= (p.Thr357=)
c.345C= (p.Thr115=)
c.255C= (p.Thr85=)
c.873C= (p.Thr291=)
c.1137C= (p.Thr379=)
c.1107C= (p.Thr369=)
11g.72230252C>GCA475866042INPPL1c.1071C>G (p.Thr357=)
c.345C>G (p.Thr115=)
c.255C>G (p.Thr85=)
c.873C>G (p.Thr291=)
c.1137C>G (p.Thr379=)
c.1107C>G (p.Thr369=)
11g.72230252C>TCA6169876INPPL1c.1071C>T (p.Thr357=)
c.345C>T (p.Thr115=)
c.255C>T (p.Thr85=)
c.873C>T (p.Thr291=)
c.1137C>T (p.Thr379=)
c.1107C>T (p.Thr369=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230253A=CA1981897985INPPL1c.1072A= (p.Thr358=)
c.346A= (p.Thr116=)
c.256A= (p.Thr86=)
c.874A= (p.Thr292=)
c.1138A= (p.Thr380=)
c.1108A= (p.Thr370=)
11g.72230253A>CCA381724781INPPL1c.1072A>C (p.Thr358Pro)
c.346A>C (p.Thr116Pro)
c.256A>C (p.Thr86Pro)
c.874A>C (p.Thr292Pro)
c.1138A>C (p.Thr380Pro)
c.1108A>C (p.Thr370Pro)
11g.72230253A>GCA6169877INPPL1c.1072A>G (p.Thr358Ala)
c.346A>G (p.Thr116Ala)
c.256A>G (p.Thr86Ala)
c.874A>G (p.Thr292Ala)
c.1138A>G (p.Thr380Ala)
c.1108A>G (p.Thr370Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230253A>TCA381724784INPPL1c.1072A>T (p.Thr358Ser)
c.346A>T (p.Thr116Ser)
c.256A>T (p.Thr86Ser)
c.874A>T (p.Thr292Ser)
c.1138A>T (p.Thr380Ser)
c.1108A>T (p.Thr370Ser)
 gnomAD v4
11g.72230254C>ACA381724794INPPL1c.1073C>A (p.Thr358Asn)
c.347C>A (p.Thr116Asn)
c.257C>A (p.Thr86Asn)
c.875C>A (p.Thr292Asn)
c.1139C>A (p.Thr380Asn)
c.1109C>A (p.Thr370Asn)
 gnomAD v4
11g.72230254C=CA1981897986INPPL1c.1073C= (p.Thr358=)
c.347C= (p.Thr116=)
c.257C= (p.Thr86=)
c.875C= (p.Thr292=)
c.1139C= (p.Thr380=)
c.1109C= (p.Thr370=)
11g.72230254C>GCA381724788INPPL1c.1073C>G (p.Thr358Ser)
c.347C>G (p.Thr116Ser)
c.257C>G (p.Thr86Ser)
c.875C>G (p.Thr292Ser)
c.1139C>G (p.Thr380Ser)
c.1109C>G (p.Thr370Ser)
11g.72230254C>TCA381724791INPPL1c.1073C>T (p.Thr358Ile)
c.347C>T (p.Thr116Ile)
c.257C>T (p.Thr86Ile)
c.875C>T (p.Thr292Ile)
c.1139C>T (p.Thr380Ile)
c.1109C>T (p.Thr370Ile)
 dbSNP gnomAD v2
11g.72230255C>ACA475866043INPPL1c.1074C>A (p.Thr358=)
c.348C>A (p.Thr116=)
c.258C>A (p.Thr86=)
c.876C>A (p.Thr292=)
c.1140C>A (p.Thr380=)
c.1110C>A (p.Thr370=)
11g.72230255C=CA1981897987INPPL1c.1074C= (p.Thr358=)
c.348C= (p.Thr116=)
c.258C= (p.Thr86=)
c.876C= (p.Thr292=)
c.1140C= (p.Thr380=)
c.1110C= (p.Thr370=)
11g.72230255C>GCA475866044INPPL1c.1074C>G (p.Thr358=)
c.348C>G (p.Thr116=)
c.258C>G (p.Thr86=)
c.876C>G (p.Thr292=)
c.1140C>G (p.Thr380=)
c.1110C>G (p.Thr370=)
11g.72230255C>TCA475866045INPPL1c.1074C>T (p.Thr358=)
c.348C>T (p.Thr116=)
c.258C>T (p.Thr86=)
c.876C>T (p.Thr292=)
c.1140C>T (p.Thr380=)
c.1110C>T (p.Thr370=)
 dbSNP gnomAD v2 gnomAD v4
11g.72230256T>ACA381724797INPPL1c.1075T>A (p.Phe359Ile)
c.349T>A (p.Phe117Ile)
c.259T>A (p.Phe87Ile)
c.877T>A (p.Phe293Ile)
c.1141T>A (p.Phe381Ile)
c.1111T>A (p.Phe371Ile)
11g.72230256T>CCA381724799INPPL1c.1075T>C (p.Phe359Leu)
c.349T>C (p.Phe117Leu)
c.259T>C (p.Phe87Leu)
c.877T>C (p.Phe293Leu)
c.1141T>C (p.Phe381Leu)
c.1111T>C (p.Phe371Leu)
11g.72230256T>GCA381724802INPPL1c.1075T>G (p.Phe359Val)
c.349T>G (p.Phe117Val)
c.259T>G (p.Phe87Val)
c.877T>G (p.Phe293Val)
c.1141T>G (p.Phe381Val)
c.1111T>G (p.Phe371Val)
11g.72230257T>ACA381724806INPPL1c.1076T>A (p.Phe359Tyr)
c.350T>A (p.Phe117Tyr)
c.260T>A (p.Phe87Tyr)
c.878T>A (p.Phe293Tyr)
c.1142T>A (p.Phe381Tyr)
c.1112T>A (p.Phe371Tyr)
11g.72230257T>CCA381724808INPPL1c.1076T>C (p.Phe359Ser)
c.350T>C (p.Phe117Ser)
c.260T>C (p.Phe87Ser)
c.878T>C (p.Phe293Ser)
c.1142T>C (p.Phe381Ser)
c.1112T>C (p.Phe371Ser)
 gnomAD v4
11g.72230257T>GCA381724811INPPL1c.1076T>G (p.Phe359Cys)
c.350T>G (p.Phe117Cys)
c.260T>G (p.Phe87Cys)
c.878T>G (p.Phe293Cys)
c.1142T>G (p.Phe381Cys)
c.1112T>G (p.Phe371Cys)
11g.72230258C>ACA381724814INPPL1c.1077C>A (p.Phe359Leu)
c.351C>A (p.Phe117Leu)
c.261C>A (p.Phe87Leu)
c.879C>A (p.Phe293Leu)
c.1143C>A (p.Phe381Leu)
c.1113C>A (p.Phe371Leu)
 gnomAD v4
11g.72230258C=CA1981897988INPPL1c.1077C= (p.Phe359=)
c.351C= (p.Phe117=)
c.261C= (p.Phe87=)
c.879C= (p.Phe293=)
c.1143C= (p.Phe381=)
c.1113C= (p.Phe371=)
11g.72230258C>GCA381724815INPPL1c.1077C>G (p.Phe359Leu)
c.351C>G (p.Phe117Leu)
c.261C>G (p.Phe87Leu)
c.879C>G (p.Phe293Leu)
c.1143C>G (p.Phe381Leu)
c.1113C>G (p.Phe371Leu)
11g.72230258C>TCA6169878INPPL1c.1077C>T (p.Phe359=)
c.351C>T (p.Phe117=)
c.261C>T (p.Phe87=)
c.879C>T (p.Phe293=)
c.1143C>T (p.Phe381=)
c.1113C>T (p.Phe371=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230259A>CCA381724819INPPL1c.1078A>C (p.Thr360Pro)
c.352A>C (p.Thr118Pro)
c.262A>C (p.Thr88Pro)
c.880A>C (p.Thr294Pro)
c.1144A>C (p.Thr382Pro)
c.1114A>C (p.Thr372Pro)
11g.72230259A>GCA381724822INPPL1c.1078A>G (p.Thr360Ala)
c.352A>G (p.Thr118Ala)
c.262A>G (p.Thr88Ala)
c.880A>G (p.Thr294Ala)
c.1144A>G (p.Thr382Ala)
c.1114A>G (p.Thr372Ala)
11g.72230259A>TCA381724831INPPL1c.1078A>T (p.Thr360Ser)
c.352A>T (p.Thr118Ser)
c.262A>T (p.Thr88Ser)
c.880A>T (p.Thr294Ser)
c.1144A>T (p.Thr382Ser)
c.1114A>T (p.Thr372Ser)
11g.72230260C>ACA6169879INPPL1c.1079C>A (p.Thr360Lys)
c.353C>A (p.Thr118Lys)
c.263C>A (p.Thr88Lys)
c.881C>A (p.Thr294Lys)
c.1145C>A (p.Thr382Lys)
c.1115C>A (p.Thr372Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230260C=CA1981897989INPPL1c.1079C= (p.Thr360=)
c.353C= (p.Thr118=)
c.263C= (p.Thr88=)
c.881C= (p.Thr294=)
c.1145C= (p.Thr382=)
c.1115C= (p.Thr372=)
11g.72230260C>GCA381724836INPPL1c.1079C>G (p.Thr360Arg)
c.353C>G (p.Thr118Arg)
c.263C>G (p.Thr88Arg)
c.881C>G (p.Thr294Arg)
c.1145C>G (p.Thr382Arg)
c.1115C>G (p.Thr372Arg)
11g.72230260C>TCA6169880INPPL1c.1079C>T (p.Thr360Met)
c.353C>T (p.Thr118Met)
c.263C>T (p.Thr88Met)
c.881C>T (p.Thr294Met)
c.1145C>T (p.Thr382Met)
c.1115C>T (p.Thr372Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230261G>ACA6169881INPPL1c.1080G>A (p.Thr360=)
c.354G>A (p.Thr118=)
c.264G>A (p.Thr88=)
c.882G>A (p.Thr294=)
c.1146G>A (p.Thr382=)
c.1116G>A (p.Thr372=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230261G>CCA475866046INPPL1c.1080G>C (p.Thr360=)
c.354G>C (p.Thr118=)
c.264G>C (p.Thr88=)
c.882G>C (p.Thr294=)
c.1146G>C (p.Thr382=)
c.1116G>C (p.Thr372=)
11g.72230261G=CA1981897990INPPL1c.1080G= (p.Thr360=)
c.354G= (p.Thr118=)
c.264G= (p.Thr88=)
c.882G= (p.Thr294=)
c.1146G= (p.Thr382=)
c.1116G= (p.Thr372=)
11g.72230261G>TCA475866047INPPL1c.1080G>T (p.Thr360=)
c.354G>T (p.Thr118=)
c.264G>T (p.Thr88=)
c.882G>T (p.Thr294=)
c.1146G>T (p.Thr382=)
c.1116G>T (p.Thr372=)
 dbSNP gnomAD v3 gnomAD v4
11g.72230262C>ACA381724847INPPL1c.1081C>A (p.His361Asn)
c.355C>A (p.His119Asn)
c.265C>A (p.His89Asn)
c.883C>A (p.His295Asn)
c.1147C>A (p.His383Asn)
c.1117C>A (p.His373Asn)
11g.72230262C=CA1981897991INPPL1c.1081C= (p.His361=)
c.355C= (p.His119=)
c.265C= (p.His89=)
c.883C= (p.His295=)
c.1147C= (p.His383=)
c.1117C= (p.His373=)
11g.72230262C>GCA6169882INPPL1c.1081C>G (p.His361Asp)
c.355C>G (p.His119Asp)
c.265C>G (p.His89Asp)
c.883C>G (p.His295Asp)
c.1147C>G (p.His383Asp)
c.1117C>G (p.His373Asp)
 dbSNP ExAC gnomAD v2
11g.72230262C>TCA381724849INPPL1c.1081C>T (p.His361Tyr)
c.355C>T (p.His119Tyr)
c.265C>T (p.His89Tyr)
c.883C>T (p.His295Tyr)
c.1147C>T (p.His383Tyr)
c.1117C>T (p.His373Tyr)
11g.72230263A=CA1981897992INPPL1c.1082A= (p.His361=)
c.356A= (p.His119=)
c.266A= (p.His89=)
c.884A= (p.His295=)
c.1148A= (p.His383=)
c.1118A= (p.His373=)
11g.72230263A>CCA381724853INPPL1c.1082A>C (p.His361Pro)
c.356A>C (p.His119Pro)
c.266A>C (p.His89Pro)
c.884A>C (p.His295Pro)
c.1148A>C (p.His383Pro)
c.1118A>C (p.His373Pro)
11g.72230263A>GCA6169883INPPL1c.1082A>G (p.His361Arg)
c.356A>G (p.His119Arg)
c.266A>G (p.His89Arg)
c.884A>G (p.His295Arg)
c.1148A>G (p.His383Arg)
c.1118A>G (p.His373Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230263A>TCA381724856INPPL1c.1082A>T (p.His361Leu)
c.356A>T (p.His119Leu)
c.266A>T (p.His89Leu)
c.884A>T (p.His295Leu)
c.1148A>T (p.His383Leu)
c.1118A>T (p.His373Leu)
11g.72230264C>ACA381724857INPPL1c.1083C>A (p.His361Gln)
c.357C>A (p.His119Gln)
c.267C>A (p.His89Gln)
c.885C>A (p.His295Gln)
c.1149C>A (p.His383Gln)
c.1119C>A (p.His373Gln)
11g.72230264C=CA1981897993INPPL1c.1083C= (p.His361=)
c.357C= (p.His119=)
c.267C= (p.His89=)
c.885C= (p.His295=)
c.1149C= (p.His383=)
c.1119C= (p.His373=)
11g.72230264C>GCA381724869INPPL1c.1083C>G (p.His361Gln)
c.357C>G (p.His119Gln)
c.267C>G (p.His89Gln)
c.885C>G (p.His295Gln)
c.1149C>G (p.His383Gln)
c.1119C>G (p.His373Gln)
11g.72230264C>TCA6169884INPPL1c.1083C>T (p.His361=)
c.357C>T (p.His119=)
c.267C>T (p.His89=)
c.885C>T (p.His295=)
c.1149C>T (p.His383=)
c.1119C>T (p.His373=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72230265G>ACA224375948INPPL1c.1084G>A (p.Asp362Asn)
c.358G>A (p.Asp120Asn)
c.268G>A (p.Asp90Asn)
c.886G>A (p.Asp296Asn)
c.1150G>A (p.Asp384Asn)
c.1120G>A (p.Asp374Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230265G>CCA381724875INPPL1c.1084G>C (p.Asp362His)
c.358G>C (p.Asp120His)
c.268G>C (p.Asp90His)
c.886G>C (p.Asp296His)
c.1150G>C (p.Asp384His)
c.1120G>C (p.Asp374His)
 gnomAD v4
11g.72230265G=CA1981897994INPPL1c.1084G= (p.Asp362=)
c.358G= (p.Asp120=)
c.268G= (p.Asp90=)
c.886G= (p.Asp296=)
c.1150G= (p.Asp384=)
c.1120G= (p.Asp374=)
11g.72230265G>TCA381724879INPPL1c.1084G>T (p.Asp362Tyr)
c.358G>T (p.Asp120Tyr)
c.268G>T (p.Asp90Tyr)
c.886G>T (p.Asp296Tyr)
c.1150G>T (p.Asp384Tyr)
c.1120G>T (p.Asp374Tyr)
 gnomAD v4
11g.72230266A>CCA381724882INPPL1c.1085A>C (p.Asp362Ala)
c.359A>C (p.Asp120Ala)
c.269A>C (p.Asp90Ala)
c.887A>C (p.Asp296Ala)
c.1151A>C (p.Asp384Ala)
c.1121A>C (p.Asp374Ala)
11g.72230266A>GCA381724885INPPL1c.1085A>G (p.Asp362Gly)
c.359A>G (p.Asp120Gly)
c.269A>G (p.Asp90Gly)
c.887A>G (p.Asp296Gly)
c.1151A>G (p.Asp384Gly)
c.1121A>G (p.Asp374Gly)
11g.72230266A>TCA381724888INPPL1c.1085A>T (p.Asp362Val)
c.359A>T (p.Asp120Val)
c.269A>T (p.Asp90Val)
c.887A>T (p.Asp296Val)
c.1151A>T (p.Asp384Val)
c.1121A>T (p.Asp374Val)
11g.72230267C>ACA381724896INPPL1c.1086C>A (p.Asp362Glu)
c.360C>A (p.Asp120Glu)
c.270C>A (p.Asp90Glu)
c.888C>A (p.Asp296Glu)
c.1152C>A (p.Asp384Glu)
c.1122C>A (p.Asp374Glu)
11g.72230267C>GCA381724892INPPL1c.1086C>G (p.Asp362Glu)
c.360C>G (p.Asp120Glu)
c.270C>G (p.Asp90Glu)
c.888C>G (p.Asp296Glu)
c.1152C>G (p.Asp384Glu)
c.1122C>G (p.Asp374Glu)
11g.72230267C>TCA475866048INPPL1c.1086C>T (p.Asp362=)
c.360C>T (p.Asp120=)
c.270C>T (p.Asp90=)
c.888C>T (p.Asp296=)
c.1152C>T (p.Asp384=)
c.1122C>T (p.Asp374=)
11g.72230268C>ACA6169886INPPL1c.1087C>A (p.Arg363Ser)
c.361C>A (p.Arg121Ser)
c.271C>A (p.Arg91Ser)
c.889C>A (p.Arg297Ser)
c.1153C>A (p.Arg385Ser)
c.1123C>A (p.Arg375Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230268C=CA1981897995INPPL1c.1087C= (p.Arg363=)
c.361C= (p.Arg121=)
c.271C= (p.Arg91=)
c.889C= (p.Arg297=)
c.1153C= (p.Arg385=)
c.1123C= (p.Arg375=)
11g.72230268C>GCA381724906INPPL1c.1087C>G (p.Arg363Gly)
c.361C>G (p.Arg121Gly)
c.271C>G (p.Arg91Gly)
c.889C>G (p.Arg297Gly)
c.1153C>G (p.Arg385Gly)
c.1123C>G (p.Arg375Gly)
11g.72230268C>TCA6169885INPPL1c.1087C>T (p.Arg363Cys)
c.361C>T (p.Arg121Cys)
c.271C>T (p.Arg91Cys)
c.889C>T (p.Arg297Cys)
c.1153C>T (p.Arg385Cys)
c.1123C>T (p.Arg375Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230269G>ACA381724914INPPL1c.1088G>A (p.Arg363His)
c.362G>A (p.Arg121His)
c.272G>A (p.Arg91His)
c.890G>A (p.Arg297His)
c.1154G>A (p.Arg385His)
c.1124G>A (p.Arg375His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72230269G>CCA381724915INPPL1c.1088G>C (p.Arg363Pro)
c.362G>C (p.Arg121Pro)
c.272G>C (p.Arg91Pro)
c.890G>C (p.Arg297Pro)
c.1154G>C (p.Arg385Pro)
c.1124G>C (p.Arg375Pro)
11g.72230269G=CA1981897996INPPL1c.1088G= (p.Arg363=)
c.362G= (p.Arg121=)
c.272G= (p.Arg91=)
c.890G= (p.Arg297=)
c.1154G= (p.Arg385=)
c.1124G= (p.Arg375=)
11g.72230269G>TCA224375955INPPL1c.1088G>T (p.Arg363Leu)
c.362G>T (p.Arg121Leu)
c.272G>T (p.Arg91Leu)
c.890G>T (p.Arg297Leu)
c.1154G>T (p.Arg385Leu)
c.1124G>T (p.Arg375Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72230270C>ACA475866049INPPL1c.1089C>A (p.Arg363=)
c.363C>A (p.Arg121=)
c.273C>A (p.Arg91=)
c.891C>A (p.Arg297=)
c.1155C>A (p.Arg385=)
c.1125C>A (p.Arg375=)
11g.72230270C>GCA475866050INPPL1c.1089C>G (p.Arg363=)
c.363C>G (p.Arg121=)
c.273C>G (p.Arg91=)
c.891C>G (p.Arg297=)
c.1155C>G (p.Arg385=)
c.1125C>G (p.Arg375=)
11g.72230270C>TCA475866051INPPL1c.1089C>T (p.Arg363=)
c.363C>T (p.Arg121=)
c.273C>T (p.Arg91=)
c.891C>T (p.Arg297=)
c.1155C>T (p.Arg385=)
c.1125C>T (p.Arg375=)
 gnomAD v4
11g.72230271A>CCA381724920INPPL1c.1090A>C (p.Ile364Leu)
c.364A>C (p.Ile122Leu)
c.274A>C (p.Ile92Leu)
c.892A>C (p.Ile298Leu)
c.1156A>C (p.Ile386Leu)
c.1126A>C (p.Ile376Leu)
11g.72230271A>GCA381724924INPPL1c.1090A>G (p.Ile364Val)
c.364A>G (p.Ile122Val)
c.274A>G (p.Ile92Val)
c.892A>G (p.Ile298Val)
c.1156A>G (p.Ile386Val)
c.1126A>G (p.Ile376Val)
11g.72230271A>TCA381724933INPPL1c.1090A>T (p.Ile364Phe)
c.364A>T (p.Ile122Phe)
c.274A>T (p.Ile92Phe)
c.892A>T (p.Ile298Phe)
c.1156A>T (p.Ile386Phe)
c.1126A>T (p.Ile376Phe)
11g.72230272G>ACA381724937INPPL1c.1090+1G>A (n.1090+1G>A)
c.364+1G>A (n.364+1G>A)
c.274+1G>A (n.274+1G>A)
c.892+1G>A (n.892+1G>A)
c.1156+1G>A (n.1156+1G>A)
c.1126+1G>A (n.1126+1G>A)
11g.72230272G>CCA381724938INPPL1c.1090+1G>C (n.1090+1G>C)
c.364+1G>C (n.364+1G>C)
c.274+1G>C (n.274+1G>C)
c.892+1G>C (n.892+1G>C)
c.1156+1G>C (n.1156+1G>C)
c.1126+1G>C (n.1126+1G>C)
 COSMIC
11g.72230272G>TCA381724939INPPL1c.1090+1G>T (n.1090+1G>T)
c.364+1G>T (n.364+1G>T)
c.274+1G>T (n.274+1G>T)
c.892+1G>T (n.892+1G>T)
c.1156+1G>T (n.1156+1G>T)
c.1126+1G>T (n.1126+1G>T)
11g.72230272_72230361delCA2614932163INPPL1c.1090+1_1091-1del (n.1090+1_1091-1del)
c.364+1_365-1del (n.364+1_365-1del)
c.274+1_275-1del (n.274+1_275-1del)
c.892+1_893-1del (n.892+1_893-1del)
c.1156+1_1157-1del (n.1156+1_1157-1del)
c.1126+1_1127-1del (n.1126+1_1127-1del)
 gnomAD v4
11g.72230273T>ACA381724951INPPL1c.1090+2T>A (n.1090+2T>A)
c.364+2T>A (n.364+2T>A)
c.274+2T>A (n.274+2T>A)
c.892+2T>A (n.892+2T>A)
c.1156+2T>A (n.1156+2T>A)
c.1126+2T>A (n.1126+2T>A)
11g.72230273T>CCA381724942INPPL1c.1090+2T>C (n.1090+2T>C)
c.364+2T>C (n.364+2T>C)
c.274+2T>C (n.274+2T>C)
c.892+2T>C (n.892+2T>C)
c.1156+2T>C (n.1156+2T>C)
c.1126+2T>C (n.1126+2T>C)
 dbSNP
11g.72230273T>GCA381724940INPPL1c.1090+2T>G (n.1090+2T>G)
c.364+2T>G (n.364+2T>G)
c.274+2T>G (n.274+2T>G)
c.892+2T>G (n.892+2T>G)
c.1156+2T>G (n.1156+2T>G)
c.1126+2T>G (n.1126+2T>G)
11g.72230273T=CA1981897997INPPL1c.1090+2T= (n.1090+2T=)
c.364+2T= (n.364+2T=)
c.274+2T= (n.274+2T=)
c.892+2T= (n.892+2T=)
c.1156+2T= (n.1156+2T=)
c.1126+2T= (n.1126+2T=)
11g.72230276G>ACA6169887INPPL1c.1090+5G>A (n.1090+5G>A)
c.364+5G>A (n.364+5G>A)
c.274+5G>A (n.274+5G>A)
c.892+5G>A (n.892+5G>A)
c.1156+5G>A (n.1156+5G>A)
c.1126+5G>A (n.1126+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230276G=CA1981897998INPPL1c.1090+5G= (n.1090+5G=)
c.364+5G= (n.364+5G=)
c.274+5G= (n.274+5G=)
c.892+5G= (n.892+5G=)
c.1156+5G= (n.1156+5G=)
c.1126+5G= (n.1126+5G=)
11g.72230277C>TCA2573147666INPPL1c.1090+6C>T (n.1090+6C>T)
c.364+6C>T (n.364+6C>T)
c.274+6C>T (n.274+6C>T)
c.892+6C>T (n.892+6C>T)
c.1156+6C>T (n.1156+6C>T)
c.1126+6C>T (n.1126+6C>T)
 ClinVar dbSNP gnomAD v4
11g.72230278C>ACA2614932165INPPL1c.1090+7C>A (n.1090+7C>A)
c.364+7C>A (n.364+7C>A)
c.274+7C>A (n.274+7C>A)
c.892+7C>A (n.892+7C>A)
c.1156+7C>A (n.1156+7C>A)
c.1126+7C>A (n.1126+7C>A)
 gnomAD v4
11g.72230279_72230281delinsAGGCA1981897999INPPL1c.1090+8_1090+10delinsAGG (n.1090+8_1090+10delinsAGG)
c.364+8_364+10delinsAGG (n.364+8_364+10delinsAGG)
c.274+8_274+10delinsAGG (n.274+8_274+10delinsAGG)
c.892+8_892+10delinsAGG (n.892+8_892+10delinsAGG)
c.1156+8_1156+10delinsAGG (n.1156+8_1156+10delinsAGG)
c.1126+8_1126+10delinsAGG (n.1126+8_1126+10delinsAGG)
11g.72230280G>ACA600243051INPPL1c.1090+9G>A (n.1090+9G>A)
c.364+9G>A (n.364+9G>A)
c.274+9G>A (n.274+9G>A)
c.892+9G>A (n.892+9G>A)
c.1156+9G>A (n.1156+9G>A)
c.1126+9G>A (n.1126+9G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.72230280G=CA1981898000INPPL1c.1090+9G= (n.1090+9G=)
c.364+9G= (n.364+9G=)
c.274+9G= (n.274+9G=)
c.892+9G= (n.892+9G=)
c.1156+9G= (n.1156+9G=)
c.1126+9G= (n.1126+9G=)
11g.72230280G>TCA2559631024INPPL1c.1090+9G>T (n.1090+9G>T)
c.364+9G>T (n.364+9G>T)
c.274+9G>T (n.274+9G>T)
c.892+9G>T (n.892+9G>T)
c.1156+9G>T (n.1156+9G>T)
c.1126+9G>T (n.1126+9G>T)
11g.72230281_72230282delCA600243050INPPL1c.1090+10_1090+11del (n.1090+10_1090+11del)
c.364+10_364+11del (n.364+10_364+11del)
c.274+10_274+11del (n.274+10_274+11del)
c.892+10_892+11del (n.892+10_892+11del)
c.1156+10_1156+11del (n.1156+10_1156+11del)
c.1126+10_1126+11del (n.1126+10_1126+11del)
 dbSNP gnomAD v2 gnomAD v4
11g.72230281G>TCA2614932166INPPL1c.1090+10G>T (n.1090+10G>T)
c.364+10G>T (n.364+10G>T)
c.274+10G>T (n.274+10G>T)
c.892+10G>T (n.892+10G>T)
c.1156+10G>T (n.1156+10G>T)
c.1126+10G>T (n.1126+10G>T)
 gnomAD v4
11g.72230282G>ACA2574912880INPPL1c.1090+11G>A (n.1090+11G>A)
c.364+11G>A (n.364+11G>A)
c.274+11G>A (n.274+11G>A)
c.892+11G>A (n.892+11G>A)
c.1156+11G>A (n.1156+11G>A)
c.1126+11G>A (n.1126+11G>A)
11g.72230282G>TCA2571003706INPPL1c.1090+11G>T (n.1090+11G>T)
c.364+11G>T (n.364+11G>T)
c.274+11G>T (n.274+11G>T)
c.892+11G>T (n.892+11G>T)
c.1156+11G>T (n.1156+11G>T)
c.1126+11G>T (n.1126+11G>T)
11g.72230283C>ACA2614932167INPPL1c.1090+12C>A (n.1090+12C>A)
c.364+12C>A (n.364+12C>A)
c.274+12C>A (n.274+12C>A)
c.892+12C>A (n.892+12C>A)
c.1156+12C>A (n.1156+12C>A)
c.1126+12C>A (n.1126+12C>A)
 gnomAD v4
11g.72230283C>TCA2614932168INPPL1c.1090+12C>T (n.1090+12C>T)
c.364+12C>T (n.364+12C>T)
c.274+12C>T (n.274+12C>T)
c.892+12C>T (n.892+12C>T)
c.1156+12C>T (n.1156+12C>T)
c.1126+12C>T (n.1126+12C>T)
 gnomAD v4
11g.72230284C>TCA2614932169INPPL1c.1090+13C>T (n.1090+13C>T)
c.364+13C>T (n.364+13C>T)
c.274+13C>T (n.274+13C>T)
c.892+13C>T (n.892+13C>T)
c.1156+13C>T (n.1156+13C>T)
c.1126+13C>T (n.1126+13C>T)
 dbSNP gnomAD v4
11g.72230285A>GCA2614932170INPPL1c.1090+14A>G (n.1090+14A>G)
c.364+14A>G (n.364+14A>G)
c.274+14A>G (n.274+14A>G)
c.892+14A>G (n.892+14A>G)
c.1156+14A>G (n.1156+14A>G)
c.1126+14A>G (n.1126+14A>G)
 gnomAD v4
11g.72230286G>CCA600243052INPPL1c.1090+15G>C (n.1090+15G>C)
c.364+15G>C (n.364+15G>C)
c.274+15G>C (n.274+15G>C)
c.892+15G>C (n.892+15G>C)
c.1156+15G>C (n.1156+15G>C)
c.1126+15G>C (n.1126+15G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.72230286G=CA1981898001INPPL1c.1090+15G= (n.1090+15G=)
c.364+15G= (n.364+15G=)
c.274+15G= (n.274+15G=)
c.892+15G= (n.892+15G=)
c.1156+15G= (n.1156+15G=)
c.1126+15G= (n.1126+15G=)
11g.72230286G>TCA2614932171INPPL1c.1090+15G>T (n.1090+15G>T)
c.364+15G>T (n.364+15G>T)
c.274+15G>T (n.274+15G>T)
c.892+15G>T (n.892+15G>T)
c.1156+15G>T (n.1156+15G>T)
c.1126+15G>T (n.1126+15G>T)
 gnomAD v4
11g.72230288C>ACA2614932172INPPL1c.1090+17C>A (n.1090+17C>A)
c.364+17C>A (n.364+17C>A)
c.274+17C>A (n.274+17C>A)
c.892+17C>A (n.892+17C>A)
c.1156+17C>A (n.1156+17C>A)
c.1126+17C>A (n.1126+17C>A)
 gnomAD v4
11g.72230288C>TCA2614932173INPPL1c.1090+17C>T (n.1090+17C>T)
c.364+17C>T (n.364+17C>T)
c.274+17C>T (n.274+17C>T)
c.892+17C>T (n.892+17C>T)
c.1156+17C>T (n.1156+17C>T)
c.1126+17C>T (n.1126+17C>T)
 gnomAD v4
11g.72230289C>TCA2574912881INPPL1c.1090+18C>T (n.1090+18C>T)
c.364+18C>T (n.364+18C>T)
c.274+18C>T (n.274+18C>T)
c.892+18C>T (n.892+18C>T)
c.1156+18C>T (n.1156+18C>T)
c.1126+18C>T (n.1126+18C>T)
 gnomAD v4
11g.72230291G>CCA939440567INPPL1c.1090+20G>C (n.1090+20G>C)
c.364+20G>C (n.364+20G>C)
c.274+20G>C (n.274+20G>C)
c.892+20G>C (n.892+20G>C)
c.1156+20G>C (n.1156+20G>C)
c.1126+20G>C (n.1126+20G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72230291G=CA1981898002INPPL1c.1090+20G= (n.1090+20G=)
c.364+20G= (n.364+20G=)
c.274+20G= (n.274+20G=)
c.892+20G= (n.892+20G=)
c.1156+20G= (n.1156+20G=)
c.1126+20G= (n.1126+20G=)
11g.72230291G>TCA600243053INPPL1c.1090+20G>T (n.1090+20G>T)
c.364+20G>T (n.364+20G>T)
c.274+20G>T (n.274+20G>T)
c.892+20G>T (n.892+20G>T)
c.1156+20G>T (n.1156+20G>T)
c.1126+20G>T (n.1126+20G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230292G>TCA2614932175INPPL1c.1090+21G>T (n.1090+21G>T)
c.364+21G>T (n.364+21G>T)
c.274+21G>T (n.274+21G>T)
c.892+21G>T (n.892+21G>T)
c.1156+21G>T (n.1156+21G>T)
c.1126+21G>T (n.1126+21G>T)
 gnomAD v4
11g.72230293G>ACA2614932177INPPL1c.1090+22G>A (n.1090+22G>A)
c.364+22G>A (n.364+22G>A)
c.274+22G>A (n.274+22G>A)
c.892+22G>A (n.892+22G>A)
c.1156+22G>A (n.1156+22G>A)
c.1126+22G>A (n.1126+22G>A)
 gnomAD v4
11g.72230294delCA2574912882INPPL1c.1090+23del (n.1090+23del)
c.364+23del (n.364+23del)
c.274+23del (n.274+23del)
c.892+23del (n.892+23del)
c.1156+23del (n.1156+23del)
c.1126+23del (n.1126+23del)
11g.72230294A>CCA2614932178INPPL1c.1090+23A>C (n.1090+23A>C)
c.364+23A>C (n.364+23A>C)
c.274+23A>C (n.274+23A>C)
c.892+23A>C (n.892+23A>C)
c.1156+23A>C (n.1156+23A>C)
c.1126+23A>C (n.1126+23A>C)
 gnomAD v4
11g.72230294_72230295delinsAGCA1981898003INPPL1c.1090+23_1090+24delinsAG (n.1090+23_1090+24delinsAG)
c.364+23_364+24delinsAG (n.364+23_364+24delinsAG)
c.274+23_274+24delinsAG (n.274+23_274+24delinsAG)
c.892+23_892+24delinsAG (n.892+23_892+24delinsAG)
c.1156+23_1156+24delinsAG (n.1156+23_1156+24delinsAG)
c.1126+23_1126+24delinsAG (n.1126+23_1126+24delinsAG)
11g.72230298delCA1981898004INPPL1c.1090+27del (n.1090+27del)
c.364+27del (n.364+27del)
c.274+27del (n.274+27del)
c.892+27del (n.892+27del)
c.1156+27del (n.1156+27del)
c.1126+27del (n.1126+27del)
 dbSNP
11g.72230296G>ACA2545886329INPPL1c.1090+25G>A (n.1090+25G>A)
c.364+25G>A (n.364+25G>A)
c.274+25G>A (n.274+25G>A)
c.892+25G>A (n.892+25G>A)
c.1156+25G>A (n.1156+25G>A)
c.1126+25G>A (n.1126+25G>A)
11g.72230296G>TCA2614932180INPPL1c.1090+25G>T (n.1090+25G>T)
c.364+25G>T (n.364+25G>T)
c.274+25G>T (n.274+25G>T)
c.892+25G>T (n.892+25G>T)
c.1156+25G>T (n.1156+25G>T)
c.1126+25G>T (n.1126+25G>T)
 gnomAD v4
11g.72230298G>ACA6169888INPPL1c.1090+27G>A (n.1090+27G>A)
c.364+27G>A (n.364+27G>A)
c.274+27G>A (n.274+27G>A)
c.892+27G>A (n.892+27G>A)
c.1156+27G>A (n.1156+27G>A)
c.1126+27G>A (n.1126+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230298G=CA1981898005INPPL1c.1090+27G= (n.1090+27G=)
c.364+27G= (n.364+27G=)
c.274+27G= (n.274+27G=)
c.892+27G= (n.892+27G=)
c.1156+27G= (n.1156+27G=)
c.1126+27G= (n.1126+27G=)
11g.72230298G>TCA2614932182INPPL1c.1090+27G>T (n.1090+27G>T)
c.364+27G>T (n.364+27G>T)
c.274+27G>T (n.274+27G>T)
c.892+27G>T (n.892+27G>T)
c.1156+27G>T (n.1156+27G>T)
c.1126+27G>T (n.1126+27G>T)
 gnomAD v4
11g.72230300G>ACA6169889INPPL1c.1090+29G>A (n.1090+29G>A)
c.364+29G>A (n.364+29G>A)
c.274+29G>A (n.274+29G>A)
c.892+29G>A (n.892+29G>A)
c.1156+29G>A (n.1156+29G>A)
c.1126+29G>A (n.1126+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230300G=CA1981898006INPPL1c.1090+29G= (n.1090+29G=)
c.364+29G= (n.364+29G=)
c.274+29G= (n.274+29G=)
c.892+29G= (n.892+29G=)
c.1156+29G= (n.1156+29G=)
c.1126+29G= (n.1126+29G=)
11g.72230302G>ACA2614932184INPPL1c.1090+31G>A (n.1090+31G>A)
c.364+31G>A (n.364+31G>A)
c.274+31G>A (n.274+31G>A)
c.892+31G>A (n.892+31G>A)
c.1156+31G>A (n.1156+31G>A)
c.1126+31G>A (n.1126+31G>A)
 gnomAD v4
11g.72230302G>CCA2574912883INPPL1c.1090+31G>C (n.1090+31G>C)
c.364+31G>C (n.364+31G>C)
c.274+31G>C (n.274+31G>C)
c.892+31G>C (n.892+31G>C)
c.1156+31G>C (n.1156+31G>C)
c.1126+31G>C (n.1126+31G>C)
 gnomAD v4
11g.72230303C>ACA2614932185INPPL1c.1090+32C>A (n.1090+32C>A)
c.364+32C>A (n.364+32C>A)
c.274+32C>A (n.274+32C>A)
c.892+32C>A (n.892+32C>A)
c.1156+32C>A (n.1156+32C>A)
c.1126+32C>A (n.1126+32C>A)
 gnomAD v4
11g.72230303C=CA1981898007INPPL1c.1090+32C= (n.1090+32C=)
c.364+32C= (n.364+32C=)
c.274+32C= (n.274+32C=)
c.892+32C= (n.892+32C=)
c.1156+32C= (n.1156+32C=)
c.1126+32C= (n.1126+32C=)
11g.72230303C>TCA600243054INPPL1c.1090+32C>T (n.1090+32C>T)
c.364+32C>T (n.364+32C>T)
c.274+32C>T (n.274+32C>T)
c.892+32C>T (n.892+32C>T)
c.1156+32C>T (n.1156+32C>T)
c.1126+32C>T (n.1126+32C>T)
 dbSNP gnomAD v2
11g.72230305G>CCA2792650694INPPL1c.1090+34G>C (n.1090+34G>C)
c.364+34G>C (n.364+34G>C)
c.274+34G>C (n.274+34G>C)
c.892+34G>C (n.892+34G>C)
c.1156+34G>C (n.1156+34G>C)
c.1126+34G>C (n.1126+34G>C)
11g.72230305G=CA1981898008INPPL1c.1090+34G= (n.1090+34G=)
c.364+34G= (n.364+34G=)
c.274+34G= (n.274+34G=)
c.892+34G= (n.892+34G=)
c.1156+34G= (n.1156+34G=)
c.1126+34G= (n.1126+34G=)
11g.72230305G>TCA939440570INPPL1c.1090+34G>T (n.1090+34G>T)
c.364+34G>T (n.364+34G>T)
c.274+34G>T (n.274+34G>T)
c.892+34G>T (n.892+34G>T)
c.1156+34G>T (n.1156+34G>T)
c.1126+34G>T (n.1126+34G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.72230306G=CA1981898009INPPL1c.1090+35G= (n.1090+35G=)
c.364+35G= (n.364+35G=)
c.274+35G= (n.274+35G=)
c.892+35G= (n.892+35G=)
c.1156+35G= (n.1156+35G=)
c.1126+35G= (n.1126+35G=)
11g.72230306G>TCA679976788INPPL1c.1090+35G>T (n.1090+35G>T)
c.364+35G>T (n.364+35G>T)
c.274+35G>T (n.274+35G>T)
c.892+35G>T (n.892+35G>T)
c.1156+35G>T (n.1156+35G>T)
c.1126+35G>T (n.1126+35G>T)
 dbSNP
11g.72230307G>ACA2574912884INPPL1c.1090+36G>A (n.1090+36G>A)
c.364+36G>A (n.364+36G>A)
c.274+36G>A (n.274+36G>A)
c.892+36G>A (n.892+36G>A)
c.1156+36G>A (n.1156+36G>A)
c.1126+36G>A (n.1126+36G>A)
11g.72230307G=CA1981898010INPPL1c.1090+36G= (n.1090+36G=)
c.364+36G= (n.364+36G=)
c.274+36G= (n.274+36G=)
c.892+36G= (n.892+36G=)
c.1156+36G= (n.1156+36G=)
c.1126+36G= (n.1126+36G=)
11g.72230307G>TCA679976791INPPL1c.1090+36G>T (n.1090+36G>T)
c.364+36G>T (n.364+36G>T)
c.274+36G>T (n.274+36G>T)
c.892+36G>T (n.892+36G>T)
c.1156+36G>T (n.1156+36G>T)
c.1126+36G>T (n.1126+36G>T)
 dbSNP
11g.72230308C=CA1981898011INPPL1c.1090+37C= (n.1090+37C=)
c.364+37C= (n.364+37C=)
c.274+37C= (n.274+37C=)
c.892+37C= (n.892+37C=)
c.1156+37C= (n.1156+37C=)
c.1126+37C= (n.1126+37C=)
11g.72230308C>TCA6169890INPPL1c.1090+37C>T (n.1090+37C>T)
c.364+37C>T (n.364+37C>T)
c.274+37C>T (n.274+37C>T)
c.892+37C>T (n.892+37C>T)
c.1156+37C>T (n.1156+37C>T)
c.1126+37C>T (n.1126+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230309G>ACA6169891INPPL1c.1090+38G>A (n.1090+38G>A)
c.364+38G>A (n.364+38G>A)
c.274+38G>A (n.274+38G>A)
c.892+38G>A (n.892+38G>A)
c.1156+38G>A (n.1156+38G>A)
c.1126+38G>A (n.1126+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230309G=CA1981898012INPPL1c.1090+38G= (n.1090+38G=)
c.364+38G= (n.364+38G=)
c.274+38G= (n.274+38G=)
c.892+38G= (n.892+38G=)
c.1156+38G= (n.1156+38G=)
c.1126+38G= (n.1126+38G=)
11g.72230312G>ACA6169892INPPL1c.1090+41G>A (n.1090+41G>A)
c.364+41G>A (n.364+41G>A)
c.274+41G>A (n.274+41G>A)
c.892+41G>A (n.892+41G>A)
c.1156+41G>A (n.1156+41G>A)
c.1126+41G>A (n.1126+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230312G>CCA2614932186INPPL1c.1090+41G>C (n.1090+41G>C)
c.364+41G>C (n.364+41G>C)
c.274+41G>C (n.274+41G>C)
c.892+41G>C (n.892+41G>C)
c.1156+41G>C (n.1156+41G>C)
c.1126+41G>C (n.1126+41G>C)
 gnomAD v4
11g.72230312G=CA1981898013INPPL1c.1090+41G= (n.1090+41G=)
c.364+41G= (n.364+41G=)
c.274+41G= (n.274+41G=)
c.892+41G= (n.892+41G=)
c.1156+41G= (n.1156+41G=)
c.1126+41G= (n.1126+41G=)
11g.72230313C>ACA2614932187INPPL1c.1090+42C>A (n.1090+42C>A)
c.364+42C>A (n.364+42C>A)
c.274+42C>A (n.274+42C>A)
c.892+42C>A (n.892+42C>A)
c.1156+42C>A (n.1156+42C>A)
c.1126+42C>A (n.1126+42C>A)
 gnomAD v4
11g.72230313C=CA1981898014INPPL1c.1090+42C= (n.1090+42C=)
c.364+42C= (n.364+42C=)
c.274+42C= (n.274+42C=)
c.892+42C= (n.892+42C=)
c.1156+42C= (n.1156+42C=)
c.1126+42C= (n.1126+42C=)
11g.72230313C>TCA6169893INPPL1c.1090+42C>T (n.1090+42C>T)
c.364+42C>T (n.364+42C>T)
c.274+42C>T (n.274+42C>T)
c.892+42C>T (n.892+42C>T)
c.1156+42C>T (n.1156+42C>T)
c.1126+42C>T (n.1126+42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230314C=CA1981898015INPPL1c.1090+43C= (n.1090+43C=)
c.364+43C= (n.364+43C=)
c.274+43C= (n.274+43C=)
c.892+43C= (n.892+43C=)
c.1156+43C= (n.1156+43C=)
c.1126+43C= (n.1126+43C=)
11g.72230314C>TCA6169894INPPL1c.1090+43C>T (n.1090+43C>T)
c.364+43C>T (n.364+43C>T)
c.274+43C>T (n.274+43C>T)
c.892+43C>T (n.892+43C>T)
c.1156+43C>T (n.1156+43C>T)
c.1126+43C>T (n.1126+43C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230315C=CA1981898016INPPL1c.1090+44C= (n.1090+44C=)
c.364+44C= (n.364+44C=)
c.274+44C= (n.274+44C=)
c.892+44C= (n.892+44C=)
c.1156+44C= (n.1156+44C=)
c.1126+44C= (n.1126+44C=)
11g.72230315C>TCA600243055INPPL1c.1090+44C>T (n.1090+44C>T)
c.364+44C>T (n.364+44C>T)
c.274+44C>T (n.274+44C>T)
c.892+44C>T (n.892+44C>T)
c.1156+44C>T (n.1156+44C>T)
c.1126+44C>T (n.1126+44C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched