Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72230139C>ACA381723740INPPL1c.958C>A (p.Leu320Met)
c.232C>A (p.Leu78Met)
c.142C>A (p.Leu48Met)
c.760C>A (p.Leu254Met)
c.1024C>A (p.Leu342Met)
c.994C>A (p.Leu332Met)
11g.72230139C=CA1981897941INPPL1c.958C= (p.Leu320=)
c.232C= (p.Leu78=)
c.142C= (p.Leu48=)
c.760C= (p.Leu254=)
c.1024C= (p.Leu342=)
c.994C= (p.Leu332=)
11g.72230139C>GCA381723741INPPL1c.958C>G (p.Leu320Val)
c.232C>G (p.Leu78Val)
c.142C>G (p.Leu48Val)
c.760C>G (p.Leu254Val)
c.1024C>G (p.Leu342Val)
c.994C>G (p.Leu332Val)
11g.72230139C>TCA6169856INPPL1c.958C>T (p.Leu320=)
c.232C>T (p.Leu78=)
c.142C>T (p.Leu48=)
c.760C>T (p.Leu254=)
c.1024C>T (p.Leu342=)
c.994C>T (p.Leu332=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230140T>ACA381723742INPPL1c.959T>A (p.Leu320Gln)
c.233T>A (p.Leu78Gln)
c.143T>A (p.Leu48Gln)
c.761T>A (p.Leu254Gln)
c.1025T>A (p.Leu342Gln)
c.995T>A (p.Leu332Gln)
11g.72230140T>CCA381723743INPPL1c.959T>C (p.Leu320Pro)
c.233T>C (p.Leu78Pro)
c.143T>C (p.Leu48Pro)
c.761T>C (p.Leu254Pro)
c.1025T>C (p.Leu342Pro)
c.995T>C (p.Leu332Pro)
11g.72230140T>GCA381723744INPPL1c.959T>G (p.Leu320Arg)
c.233T>G (p.Leu78Arg)
c.143T>G (p.Leu48Arg)
c.761T>G (p.Leu254Arg)
c.1025T>G (p.Leu342Arg)
c.995T>G (p.Leu332Arg)
11g.72230141G>ACA475865964INPPL1c.960G>A (p.Leu320=)
c.234G>A (p.Leu78=)
c.144G>A (p.Leu48=)
c.762G>A (p.Leu254=)
c.1026G>A (p.Leu342=)
c.996G>A (p.Leu332=)
 gnomAD v4
11g.72230141G>CCA475865965INPPL1c.960G>C (p.Leu320=)
c.234G>C (p.Leu78=)
c.144G>C (p.Leu48=)
c.762G>C (p.Leu254=)
c.1026G>C (p.Leu342=)
c.996G>C (p.Leu332=)
11g.72230141G>TCA475865963INPPL1c.960G>T (p.Leu320=)
c.234G>T (p.Leu78=)
c.144G>T (p.Leu48=)
c.762G>T (p.Leu254=)
c.1026G>T (p.Leu342=)
c.996G>T (p.Leu332=)
11g.72230142G>ACA381723748INPPL1c.961G>A (p.Gly321Ser)
c.235G>A (p.Gly79Ser)
c.145G>A (p.Gly49Ser)
c.763G>A (p.Gly255Ser)
c.1027G>A (p.Gly343Ser)
c.997G>A (p.Gly333Ser)
 gnomAD v4
11g.72230142G>CCA381723749INPPL1c.961G>C (p.Gly321Arg)
c.235G>C (p.Gly79Arg)
c.145G>C (p.Gly49Arg)
c.763G>C (p.Gly255Arg)
c.1027G>C (p.Gly343Arg)
c.997G>C (p.Gly333Arg)
11g.72230142G>TCA381723753INPPL1c.961G>T (p.Gly321Cys)
c.235G>T (p.Gly79Cys)
c.145G>T (p.Gly49Cys)
c.763G>T (p.Gly255Cys)
c.1027G>T (p.Gly343Cys)
c.997G>T (p.Gly333Cys)
11g.72230143G>ACA381723767INPPL1c.962G>A (p.Gly321Asp)
c.236G>A (p.Gly79Asp)
c.146G>A (p.Gly49Asp)
c.764G>A (p.Gly255Asp)
c.1028G>A (p.Gly343Asp)
c.998G>A (p.Gly333Asp)
11g.72230143G>CCA381723770INPPL1c.962G>C (p.Gly321Ala)
c.236G>C (p.Gly79Ala)
c.146G>C (p.Gly49Ala)
c.764G>C (p.Gly255Ala)
c.1028G>C (p.Gly343Ala)
c.998G>C (p.Gly333Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.72230143G=CA1981897942INPPL1c.962G= (p.Gly321=)
c.236G= (p.Gly79=)
c.146G= (p.Gly49=)
c.764G= (p.Gly255=)
c.1028G= (p.Gly343=)
c.998G= (p.Gly333=)
11g.72230143G>TCA381723758INPPL1c.962G>T (p.Gly321Val)
c.236G>T (p.Gly79Val)
c.146G>T (p.Gly49Val)
c.764G>T (p.Gly255Val)
c.1028G>T (p.Gly343Val)
c.998G>T (p.Gly333Val)
11g.72230144T>ACA475865968INPPL1c.963T>A (p.Gly321=)
c.237T>A (p.Gly79=)
c.147T>A (p.Gly49=)
c.765T>A (p.Gly255=)
c.1029T>A (p.Gly343=)
c.999T>A (p.Gly333=)
11g.72230144T>CCA475865967INPPL1c.963T>C (p.Gly321=)
c.237T>C (p.Gly79=)
c.147T>C (p.Gly49=)
c.765T>C (p.Gly255=)
c.1029T>C (p.Gly343=)
c.999T>C (p.Gly333=)
11g.72230144T>GCA475865966INPPL1c.963T>G (p.Gly321=)
c.237T>G (p.Gly79=)
c.147T>G (p.Gly49=)
c.765T>G (p.Gly255=)
c.1029T>G (p.Gly343=)
c.999T>G (p.Gly333=)
11g.72230145G>ACA381723774INPPL1c.964G>A (p.Asp322Asn)
c.238G>A (p.Asp80Asn)
c.148G>A (p.Asp50Asn)
c.766G>A (p.Asp256Asn)
c.1030G>A (p.Asp344Asn)
c.1000G>A (p.Asp334Asn)
 gnomAD v4
11g.72230145G>CCA381723777INPPL1c.964G>C (p.Asp322His)
c.238G>C (p.Asp80His)
c.148G>C (p.Asp50His)
c.766G>C (p.Asp256His)
c.1030G>C (p.Asp344His)
c.1000G>C (p.Asp334His)
11g.72230145G>TCA381723781INPPL1c.964G>T (p.Asp322Tyr)
c.238G>T (p.Asp80Tyr)
c.148G>T (p.Asp50Tyr)
c.766G>T (p.Asp256Tyr)
c.1030G>T (p.Asp344Tyr)
c.1000G>T (p.Asp334Tyr)
11g.72230146A>CCA381723786INPPL1c.965A>C (p.Asp322Ala)
c.239A>C (p.Asp80Ala)
c.149A>C (p.Asp50Ala)
c.767A>C (p.Asp256Ala)
c.1031A>C (p.Asp344Ala)
c.1001A>C (p.Asp334Ala)
11g.72230146A>GCA381723791INPPL1c.965A>G (p.Asp322Gly)
c.239A>G (p.Asp80Gly)
c.149A>G (p.Asp50Gly)
c.767A>G (p.Asp256Gly)
c.1031A>G (p.Asp344Gly)
c.1001A>G (p.Asp334Gly)
11g.72230146A>TCA381723797INPPL1c.965A>T (p.Asp322Val)
c.239A>T (p.Asp80Val)
c.149A>T (p.Asp50Val)
c.767A>T (p.Asp256Val)
c.1031A>T (p.Asp344Val)
c.1001A>T (p.Asp334Val)
11g.72230147C>ACA381723801INPPL1c.966C>A (p.Asp322Glu)
c.240C>A (p.Asp80Glu)
c.150C>A (p.Asp50Glu)
c.768C>A (p.Asp256Glu)
c.1032C>A (p.Asp344Glu)
c.1002C>A (p.Asp334Glu)
11g.72230147C=CA1981897943INPPL1c.966C= (p.Asp322=)
c.240C= (p.Asp80=)
c.150C= (p.Asp50=)
c.768C= (p.Asp256=)
c.1032C= (p.Asp344=)
c.1002C= (p.Asp334=)
11g.72230147C>GCA381723802INPPL1c.966C>G (p.Asp322Glu)
c.240C>G (p.Asp80Glu)
c.150C>G (p.Asp50Glu)
c.768C>G (p.Asp256Glu)
c.1032C>G (p.Asp344Glu)
c.1002C>G (p.Asp334Glu)
11g.72230147C>TCA475865970INPPL1c.966C>T (p.Asp322=)
c.240C>T (p.Asp80=)
c.150C>T (p.Asp50=)
c.768C>T (p.Asp256=)
c.1032C>T (p.Asp344=)
c.1002C>T (p.Asp334=)
 dbSNP
11g.72230148C>ACA381723803INPPL1c.967C>A (p.Leu323Met)
c.241C>A (p.Leu81Met)
c.151C>A (p.Leu51Met)
c.769C>A (p.Leu257Met)
c.1033C>A (p.Leu345Met)
c.1003C>A (p.Leu335Met)
11g.72230148C=CA1981897944INPPL1c.967C= (p.Leu323=)
c.241C= (p.Leu81=)
c.151C= (p.Leu51=)
c.769C= (p.Leu257=)
c.1033C= (p.Leu345=)
c.1003C= (p.Leu335=)
11g.72230148C>GCA381723804INPPL1c.967C>G (p.Leu323Val)
c.241C>G (p.Leu81Val)
c.151C>G (p.Leu51Val)
c.769C>G (p.Leu257Val)
c.1033C>G (p.Leu345Val)
c.1003C>G (p.Leu335Val)
11g.72230148C>TCA475865971INPPL1c.967C>T (p.Leu323=)
c.241C>T (p.Leu81=)
c.151C>T (p.Leu51=)
c.769C>T (p.Leu257=)
c.1033C>T (p.Leu345=)
c.1003C>T (p.Leu335=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230149T>ACA381723808INPPL1c.968T>A (p.Leu323Gln)
c.242T>A (p.Leu81Gln)
c.152T>A (p.Leu51Gln)
c.770T>A (p.Leu257Gln)
c.1034T>A (p.Leu345Gln)
c.1004T>A (p.Leu335Gln)
11g.72230149T>CCA381723813INPPL1c.968T>C (p.Leu323Pro)
c.242T>C (p.Leu81Pro)
c.152T>C (p.Leu51Pro)
c.770T>C (p.Leu257Pro)
c.1034T>C (p.Leu345Pro)
c.1004T>C (p.Leu335Pro)
 gnomAD v4
11g.72230149T>GCA381723817INPPL1c.968T>G (p.Leu323Arg)
c.242T>G (p.Leu81Arg)
c.152T>G (p.Leu51Arg)
c.770T>G (p.Leu257Arg)
c.1034T>G (p.Leu345Arg)
c.1004T>G (p.Leu335Arg)
11g.72230151_72230160dupCA2573147665INPPL1c.970_979dup (p.Gly327AspfsTer?)
c.244_253dup (p.Gly85AspfsTer?)
c.154_163dup (p.Gly55AspfsTer?)
c.772_781dup (p.Gly261AspfsTer?)
c.1036_1045dup (p.Gly349AspfsTer?)
c.1006_1015dup (p.Gly339AspfsTer?)
 ClinVar dbSNP
11g.72230150G>ACA475865972INPPL1c.969G>A (p.Leu323=)
c.243G>A (p.Leu81=)
c.153G>A (p.Leu51=)
c.771G>A (p.Leu257=)
c.1035G>A (p.Leu345=)
c.1005G>A (p.Leu335=)
11g.72230150G>CCA475865973INPPL1c.969G>C (p.Leu323=)
c.243G>C (p.Leu81=)
c.153G>C (p.Leu51=)
c.771G>C (p.Leu257=)
c.1035G>C (p.Leu345=)
c.1005G>C (p.Leu335=)
11g.72230150G>TCA475865974INPPL1c.969G>T (p.Leu323=)
c.243G>T (p.Leu81=)
c.153G>T (p.Leu51=)
c.771G>T (p.Leu257=)
c.1035G>T (p.Leu345=)
c.1005G>T (p.Leu335=)
 gnomAD v4
11g.72230151A>CCA381723823INPPL1c.970A>C (p.Thr324Pro)
c.244A>C (p.Thr82Pro)
c.154A>C (p.Thr52Pro)
c.772A>C (p.Thr258Pro)
c.1036A>C (p.Thr346Pro)
c.1006A>C (p.Thr336Pro)
11g.72230151A>GCA381723821INPPL1c.970A>G (p.Thr324Ala)
c.244A>G (p.Thr82Ala)
c.154A>G (p.Thr52Ala)
c.772A>G (p.Thr258Ala)
c.1036A>G (p.Thr346Ala)
c.1006A>G (p.Thr336Ala)
11g.72230151A>TCA381723819INPPL1c.970A>T (p.Thr324Ser)
c.244A>T (p.Thr82Ser)
c.154A>T (p.Thr52Ser)
c.772A>T (p.Thr258Ser)
c.1036A>T (p.Thr346Ser)
c.1006A>T (p.Thr336Ser)
11g.72230151_72230152delinsACCA1981897945INPPL1c.970_971delinsAC (p.Thr324=)
c.244_245delinsAC (p.Thr82=)
c.154_155delinsAC (p.Thr52=)
c.772_773delinsAC (p.Thr258=)
c.1036_1037delinsAC (p.Thr346=)
c.1006_1007delinsAC (p.Thr336=)
11g.72230152C>ACA381723825INPPL1c.971C>A (p.Thr324Asn)
c.245C>A (p.Thr82Asn)
c.155C>A (p.Thr52Asn)
c.773C>A (p.Thr258Asn)
c.1037C>A (p.Thr346Asn)
c.1007C>A (p.Thr336Asn)
 gnomAD v4
11g.72230152C>GCA381723830INPPL1c.971C>G (p.Thr324Ser)
c.245C>G (p.Thr82Ser)
c.155C>G (p.Thr52Ser)
c.773C>G (p.Thr258Ser)
c.1037C>G (p.Thr346Ser)
c.1007C>G (p.Thr336Ser)
11g.72230152C>TCA381723827INPPL1c.971C>T (p.Thr324Ile)
c.245C>T (p.Thr82Ile)
c.155C>T (p.Thr52Ile)
c.773C>T (p.Thr258Ile)
c.1037C>T (p.Thr346Ile)
c.1007C>T (p.Thr336Ile)
11g.72230153delCA679976559INPPL1c.972del (p.Lys325ArgfsTer10)
c.246del (p.Lys83ArgfsTer10)
c.156del (p.Lys53ArgfsTer10)
c.774del (p.Lys259ArgfsTer10)
c.1038del (p.Lys347ArgfsTer10)
c.1008del (p.Lys337ArgfsTer10)
 dbSNP gnomAD v3 gnomAD v4
11g.72230153C>ACA475865975INPPL1c.972C>A (p.Thr324=)
c.246C>A (p.Thr82=)
c.156C>A (p.Thr52=)
c.774C>A (p.Thr258=)
c.1038C>A (p.Thr346=)
c.1008C>A (p.Thr336=)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched