Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.72230160G>ACA381723898INPPL1c.979G>A (p.Gly327Arg)
c.253G>A (p.Gly85Arg)
c.163G>A (p.Gly55Arg)
c.781G>A (p.Gly261Arg)
c.1045G>A (p.Gly349Arg)
c.1015G>A (p.Gly339Arg)
dbSNP gnomAD v2
11g.72230160G>CCA381723900INPPL1c.979G>C (p.Gly327Arg)
c.253G>C (p.Gly85Arg)
c.163G>C (p.Gly55Arg)
c.781G>C (p.Gly261Arg)
c.1045G>C (p.Gly349Arg)
c.1015G>C (p.Gly339Arg)
11g.72230160G=CA1981897947INPPL1c.979G= (p.Gly327=)
c.253G= (p.Gly85=)
c.163G= (p.Gly55=)
c.781G= (p.Gly261=)
c.1045G= (p.Gly349=)
c.1015G= (p.Gly339=)
11g.72230160G>TCA381723913INPPL1c.979G>T (p.Gly327Trp)
c.253G>T (p.Gly85Trp)
c.163G>T (p.Gly55Trp)
c.781G>T (p.Gly261Trp)
c.1045G>T (p.Gly349Trp)
c.1015G>T (p.Gly339Trp)
11g.72230161G>ACA381723929INPPL1c.980G>A (p.Gly327Glu)
c.254G>A (p.Gly85Glu)
c.164G>A (p.Gly55Glu)
c.782G>A (p.Gly261Glu)
c.1046G>A (p.Gly349Glu)
c.1016G>A (p.Gly339Glu)
gnomAD v4
11g.72230161G>CCA381723920INPPL1c.980G>C (p.Gly327Ala)
c.254G>C (p.Gly85Ala)
c.164G>C (p.Gly55Ala)
c.782G>C (p.Gly261Ala)
c.1046G>C (p.Gly349Ala)
c.1016G>C (p.Gly339Ala)
dbSNP gnomAD v2 gnomAD v4
11g.72230161G=CA1981897948INPPL1c.980G= (p.Gly327=)
c.254G= (p.Gly85=)
c.164G= (p.Gly55=)
c.782G= (p.Gly261=)
c.1046G= (p.Gly349=)
c.1016G= (p.Gly339=)
11g.72230161G>TCA381723917INPPL1c.980G>T (p.Gly327Val)
c.254G>T (p.Gly85Val)
c.164G>T (p.Gly55Val)
c.782G>T (p.Gly261Val)
c.1046G>T (p.Gly349Val)
c.1016G>T (p.Gly339Val)
11g.72230162G>ACA475865981INPPL1c.981G>A (p.Gly327=)
c.255G>A (p.Gly85=)
c.165G>A (p.Gly55=)
c.783G>A (p.Gly261=)
c.1047G>A (p.Gly349=)
c.1017G>A (p.Gly339=)
11g.72230162G>CCA475865983INPPL1c.981G>C (p.Gly327=)
c.255G>C (p.Gly85=)
c.165G>C (p.Gly55=)
c.783G>C (p.Gly261=)
c.1047G>C (p.Gly349=)
c.1017G>C (p.Gly339=)
11g.72230162G>TCA475865982INPPL1c.981G>T (p.Gly327=)
c.255G>T (p.Gly85=)
c.165G>T (p.Gly55=)
c.783G>T (p.Gly261=)
c.1047G>T (p.Gly349=)
c.1017G>T (p.Gly339=)
11g.72230163A>CCA381723930INPPL1c.982A>C (p.Lys328Gln)
c.256A>C (p.Lys86Gln)
c.166A>C (p.Lys56Gln)
c.784A>C (p.Lys262Gln)
c.1048A>C (p.Lys350Gln)
c.1018A>C (p.Lys340Gln)
11g.72230163A>GCA381723932INPPL1c.982A>G (p.Lys328Glu)
c.256A>G (p.Lys86Glu)
c.166A>G (p.Lys56Glu)
c.784A>G (p.Lys262Glu)
c.1048A>G (p.Lys350Glu)
c.1018A>G (p.Lys340Glu)
gnomAD v4
11g.72230163A>TCA381723934INPPL1c.982A>T (p.Lys328Ter)
c.256A>T (p.Lys86Ter)
c.166A>T (p.Lys56Ter)
c.784A>T (p.Lys262Ter)
c.1048A>T (p.Lys350Ter)
c.1018A>T (p.Lys340Ter)
11g.72230164A>CCA381723940INPPL1c.983A>C (p.Lys328Thr)
c.257A>C (p.Lys86Thr)
c.167A>C (p.Lys56Thr)
c.785A>C (p.Lys262Thr)
c.1049A>C (p.Lys350Thr)
c.1019A>C (p.Lys340Thr)
11g.72230164A>GCA381723945INPPL1c.983A>G (p.Lys328Arg)
c.257A>G (p.Lys86Arg)
c.167A>G (p.Lys56Arg)
c.785A>G (p.Lys262Arg)
c.1049A>G (p.Lys350Arg)
c.1019A>G (p.Lys340Arg)
11g.72230164A>TCA381723947INPPL1c.983A>T (p.Lys328Met)
c.257A>T (p.Lys86Met)
c.167A>T (p.Lys56Met)
c.785A>T (p.Lys262Met)
c.1049A>T (p.Lys350Met)
c.1019A>T (p.Lys340Met)
11g.72230165G>ACA475865984INPPL1c.984G>A (p.Lys328=)
c.258G>A (p.Lys86=)
c.168G>A (p.Lys56=)
c.786G>A (p.Lys262=)
c.1050G>A (p.Lys350=)
c.1020G>A (p.Lys340=)
11g.72230165G>CCA381723951INPPL1c.984G>C (p.Lys328Asn)
c.258G>C (p.Lys86Asn)
c.168G>C (p.Lys56Asn)
c.786G>C (p.Lys262Asn)
c.1050G>C (p.Lys350Asn)
c.1020G>C (p.Lys340Asn)
11g.72230165G>TCA381723959INPPL1c.984G>T (p.Lys328Asn)
c.258G>T (p.Lys86Asn)
c.168G>T (p.Lys56Asn)
c.786G>T (p.Lys262Asn)
c.1050G>T (p.Lys350Asn)
c.1020G>T (p.Lys340Asn)
11g.72230166T>ACA381723961INPPL1c.985T>A (p.Ser329Thr)
c.259T>A (p.Ser87Thr)
c.169T>A (p.Ser57Thr)
c.787T>A (p.Ser263Thr)
c.1051T>A (p.Ser351Thr)
c.1021T>A (p.Ser341Thr)
gnomAD v4
11g.72230166T>CCA381723963INPPL1c.985T>C (p.Ser329Pro)
c.259T>C (p.Ser87Pro)
c.169T>C (p.Ser57Pro)
c.787T>C (p.Ser263Pro)
c.1051T>C (p.Ser351Pro)
c.1021T>C (p.Ser341Pro)
11g.72230166T>GCA381723964INPPL1c.985T>G (p.Ser329Ala)
c.259T>G (p.Ser87Ala)
c.169T>G (p.Ser57Ala)
c.787T>G (p.Ser263Ala)
c.1051T>G (p.Ser351Ala)
c.1021T>G (p.Ser341Ala)
11g.72230167C>ACA381723986INPPL1c.986C>A (p.Ser329Ter)
c.260C>A (p.Ser87Ter)
c.170C>A (p.Ser57Ter)
c.788C>A (p.Ser263Ter)
c.1052C>A (p.Ser351Ter)
c.1022C>A (p.Ser341Ter)
11g.72230167C>GCA381723968INPPL1c.986C>G (p.Ser329Ter)
c.260C>G (p.Ser87Ter)
c.170C>G (p.Ser57Ter)
c.788C>G (p.Ser263Ter)
c.1052C>G (p.Ser351Ter)
c.1022C>G (p.Ser341Ter)
11g.72230167C>TCA381723967INPPL1c.986C>T (p.Ser329Leu)
c.260C>T (p.Ser87Leu)
c.170C>T (p.Ser57Leu)
c.788C>T (p.Ser263Leu)
c.1052C>T (p.Ser351Leu)
c.1022C>T (p.Ser341Leu)
dbSNP gnomAD v4
11g.72230168A=CA1981897949INPPL1c.987A= (p.Ser329=)
c.261A= (p.Ser87=)
c.171A= (p.Ser57=)
c.789A= (p.Ser263=)
c.1053A= (p.Ser351=)
c.1023A= (p.Ser341=)
11g.72230168A>CCA475865985INPPL1c.987A>C (p.Ser329=)
c.261A>C (p.Ser87=)
c.171A>C (p.Ser57=)
c.789A>C (p.Ser263=)
c.1053A>C (p.Ser351=)
c.1023A>C (p.Ser341=)
11g.72230168A>GCA6169857INPPL1c.987A>G (p.Ser329=)
c.261A>G (p.Ser87=)
c.171A>G (p.Ser57=)
c.789A>G (p.Ser263=)
c.1053A>G (p.Ser351=)
c.1023A>G (p.Ser341=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230168A>TCA475865986INPPL1c.987A>T (p.Ser329=)
c.261A>T (p.Ser87=)
c.171A>T (p.Ser57=)
c.789A>T (p.Ser263=)
c.1053A>T (p.Ser351=)
c.1023A>T (p.Ser341=)
gnomAD v4
11g.72230169C>ACA381723999INPPL1c.988C>A (p.Gln330Lys)
c.262C>A (p.Gln88Lys)
c.172C>A (p.Gln58Lys)
c.790C>A (p.Gln264Lys)
c.1054C>A (p.Gln352Lys)
c.1024C>A (p.Gln342Lys)
11g.72230169C>GCA381724001INPPL1c.988C>G (p.Gln330Glu)
c.262C>G (p.Gln88Glu)
c.172C>G (p.Gln58Glu)
c.790C>G (p.Gln264Glu)
c.1054C>G (p.Gln352Glu)
c.1024C>G (p.Gln342Glu)
11g.72230169C>TCA381724005INPPL1c.988C>T (p.Gln330Ter)
c.262C>T (p.Gln88Ter)
c.172C>T (p.Gln58Ter)
c.790C>T (p.Gln264Ter)
c.1054C>T (p.Gln352Ter)
c.1024C>T (p.Gln342Ter)
dbSNP gnomAD v3 gnomAD v4
11g.72230170delCA2614932049INPPL1c.989del (p.Gln330ArgfsTer5)
c.263del (p.Gln88ArgfsTer5)
c.173del (p.Gln58ArgfsTer5)
c.791del (p.Gln264ArgfsTer5)
c.1055del (p.Gln352ArgfsTer5)
c.1025del (p.Gln342ArgfsTer5)
gnomAD v4
11g.72230170A>CCA381724006INPPL1c.989A>C (p.Gln330Pro)
c.263A>C (p.Gln88Pro)
c.173A>C (p.Gln58Pro)
c.791A>C (p.Gln264Pro)
c.1055A>C (p.Gln352Pro)
c.1025A>C (p.Gln342Pro)
11g.72230170A>GCA381724007INPPL1c.989A>G (p.Gln330Arg)
c.263A>G (p.Gln88Arg)
c.173A>G (p.Gln58Arg)
c.791A>G (p.Gln264Arg)
c.1055A>G (p.Gln352Arg)
c.1025A>G (p.Gln342Arg)
11g.72230170A>TCA381724008INPPL1c.989A>T (p.Gln330Leu)
c.263A>T (p.Gln88Leu)
c.173A>T (p.Gln58Leu)
c.791A>T (p.Gln264Leu)
c.1055A>T (p.Gln352Leu)
c.1025A>T (p.Gln342Leu)
11g.72230171G>ACA224375877INPPL1c.990G>A (p.Gln330=)
c.264G>A (p.Gln88=)
c.174G>A (p.Gln58=)
c.792G>A (p.Gln264=)
c.1056G>A (p.Gln352=)
c.1026G>A (p.Gln342=)
dbSNP gnomAD v4
11g.72230171G>CCA381724013INPPL1c.990G>C (p.Gln330His)
c.264G>C (p.Gln88His)
c.174G>C (p.Gln58His)
c.792G>C (p.Gln264His)
c.1056G>C (p.Gln352His)
c.1026G>C (p.Gln342His)
11g.72230171G=CA1981897950INPPL1c.990G= (p.Gln330=)
c.264G= (p.Gln88=)
c.174G= (p.Gln58=)
c.792G= (p.Gln264=)
c.1056G= (p.Gln352=)
c.1026G= (p.Gln342=)
11g.72230171G>TCA381724014INPPL1c.990G>T (p.Gln330His)
c.264G>T (p.Gln88His)
c.174G>T (p.Gln58His)
c.792G>T (p.Gln264His)
c.1056G>T (p.Gln352His)
c.1026G>T (p.Gln342His)
11g.72230172A>CCA381724016INPPL1c.991A>C (p.Lys331Gln)
c.265A>C (p.Lys89Gln)
c.175A>C (p.Lys59Gln)
c.793A>C (p.Lys265Gln)
c.1057A>C (p.Lys353Gln)
c.1027A>C (p.Lys343Gln)
11g.72230172A>GCA381724019INPPL1c.991A>G (p.Lys331Glu)
c.265A>G (p.Lys89Glu)
c.175A>G (p.Lys59Glu)
c.793A>G (p.Lys265Glu)
c.1057A>G (p.Lys353Glu)
c.1027A>G (p.Lys343Glu)
11g.72230172A>TCA381724027INPPL1c.991A>T (p.Lys331Ter)
c.265A>T (p.Lys89Ter)
c.175A>T (p.Lys59Ter)
c.793A>T (p.Lys265Ter)
c.1057A>T (p.Lys353Ter)
c.1027A>T (p.Lys343Ter)
11g.72230173A>CCA381724036INPPL1c.992A>C (p.Lys331Thr)
c.266A>C (p.Lys89Thr)
c.176A>C (p.Lys59Thr)
c.794A>C (p.Lys265Thr)
c.1058A>C (p.Lys353Thr)
c.1028A>C (p.Lys343Thr)
gnomAD v4
11g.72230173A>GCA381724042INPPL1c.992A>G (p.Lys331Arg)
c.266A>G (p.Lys89Arg)
c.176A>G (p.Lys59Arg)
c.794A>G (p.Lys265Arg)
c.1058A>G (p.Lys353Arg)
c.1028A>G (p.Lys343Arg)
11g.72230173A>TCA381724041INPPL1c.992A>T (p.Lys331Met)
c.266A>T (p.Lys89Met)
c.176A>T (p.Lys59Met)
c.794A>T (p.Lys265Met)
c.1058A>T (p.Lys353Met)
c.1028A>T (p.Lys343Met)
11g.72230174G>ACA475865987INPPL1c.993G>A (p.Lys331=)
c.267G>A (p.Lys89=)
c.177G>A (p.Lys59=)
c.795G>A (p.Lys265=)
c.1059G>A (p.Lys353=)
c.1029G>A (p.Lys343=)
11g.72230174G>CCA381724045INPPL1c.993G>C (p.Lys331Asn)
c.267G>C (p.Lys89Asn)
c.177G>C (p.Lys59Asn)
c.795G>C (p.Lys265Asn)
c.1059G>C (p.Lys353Asn)
c.1029G>C (p.Lys343Asn)
11g.72230174G>TCA381724047INPPL1c.993G>T (p.Lys331Asn)
c.267G>T (p.Lys89Asn)
c.177G>T (p.Lys59Asn)
c.795G>T (p.Lys265Asn)
c.1059G>T (p.Lys353Asn)
c.1029G>T (p.Lys343Asn)
11g.72230175T>ACA381724053INPPL1c.994T>A (p.Phe332Ile)
c.268T>A (p.Phe90Ile)
c.178T>A (p.Phe60Ile)
c.796T>A (p.Phe266Ile)
c.1060T>A (p.Phe354Ile)
c.1030T>A (p.Phe344Ile)
11g.72230175T>CCA381724055INPPL1c.994T>C (p.Phe332Leu)
c.268T>C (p.Phe90Leu)
c.178T>C (p.Phe60Leu)
c.796T>C (p.Phe266Leu)
c.1060T>C (p.Phe354Leu)
c.1030T>C (p.Phe344Leu)
11g.72230175T>GCA381724061INPPL1c.994T>G (p.Phe332Val)
c.268T>G (p.Phe90Val)
c.178T>G (p.Phe60Val)
c.796T>G (p.Phe266Val)
c.1060T>G (p.Phe354Val)
c.1030T>G (p.Phe344Val)
gnomAD v4
11g.72230176T>ACA381724065INPPL1c.995T>A (p.Phe332Tyr)
c.269T>A (p.Phe90Tyr)
c.179T>A (p.Phe60Tyr)
c.797T>A (p.Phe266Tyr)
c.1061T>A (p.Phe354Tyr)
c.1031T>A (p.Phe344Tyr)
11g.72230176T>CCA381724072INPPL1c.995T>C (p.Phe332Ser)
c.269T>C (p.Phe90Ser)
c.179T>C (p.Phe60Ser)
c.797T>C (p.Phe266Ser)
c.1061T>C (p.Phe354Ser)
c.1031T>C (p.Phe344Ser)
11g.72230176T>GCA381724073INPPL1c.995T>G (p.Phe332Cys)
c.269T>G (p.Phe90Cys)
c.179T>G (p.Phe60Cys)
c.797T>G (p.Phe266Cys)
c.1061T>G (p.Phe354Cys)
c.1031T>G (p.Phe344Cys)
11g.72230177C>ACA381724079INPPL1c.996C>A (p.Phe332Leu)
c.270C>A (p.Phe90Leu)
c.180C>A (p.Phe60Leu)
c.798C>A (p.Phe266Leu)
c.1062C>A (p.Phe354Leu)
c.1032C>A (p.Phe344Leu)
dbSNP gnomAD v3 gnomAD v4
11g.72230177C=CA1981897951INPPL1c.996C= (p.Phe332=)
c.270C= (p.Phe90=)
c.180C= (p.Phe60=)
c.798C= (p.Phe266=)
c.1062C= (p.Phe354=)
c.1032C= (p.Phe344=)
11g.72230177C>GCA381724085INPPL1c.996C>G (p.Phe332Leu)
c.270C>G (p.Phe90Leu)
c.180C>G (p.Phe60Leu)
c.798C>G (p.Phe266Leu)
c.1062C>G (p.Phe354Leu)
c.1032C>G (p.Phe344Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230177C>TCA475865988INPPL1c.996C>T (p.Phe332=)
c.270C>T (p.Phe90=)
c.180C>T (p.Phe60=)
c.798C>T (p.Phe266=)
c.1062C>T (p.Phe354=)
c.1032C>T (p.Phe344=)
11g.72230177_72230182delinsGATGTGCA2580084853INPPL1c.996_1001delinsGATGTG (p.Phe332_Leu334delinsLeuMetTrp)
c.270_275delinsGATGTG (p.Phe90_Leu92delinsLeuMetTrp)
c.180_185delinsGATGTG (p.Phe60_Leu62delinsLeuMetTrp)
c.798_803delinsGATGTG (p.Phe266_Leu268delinsLeuMetTrp)
c.1062_1067delinsGATGTG (p.Phe354_Leu356delinsLeuMetTrp)
c.1032_1037delinsGATGTG (p.Phe344_Leu346delinsLeuMetTrp)
ClinVar
11g.72230178A>CCA381724091INPPL1c.997A>C (p.Thr333Pro)
c.271A>C (p.Thr91Pro)
c.181A>C (p.Thr61Pro)
c.799A>C (p.Thr267Pro)
c.1063A>C (p.Thr355Pro)
c.1033A>C (p.Thr345Pro)
11g.72230178A>GCA381724092INPPL1c.997A>G (p.Thr333Ala)
c.271A>G (p.Thr91Ala)
c.181A>G (p.Thr61Ala)
c.799A>G (p.Thr267Ala)
c.1063A>G (p.Thr355Ala)
c.1033A>G (p.Thr345Ala)
11g.72230178A>TCA381724090INPPL1c.997A>T (p.Thr333Ser)
c.271A>T (p.Thr91Ser)
c.181A>T (p.Thr61Ser)
c.799A>T (p.Thr267Ser)
c.1063A>T (p.Thr355Ser)
c.1033A>T (p.Thr345Ser)
11g.72230179C>ACA381724098INPPL1c.998C>A (p.Thr333Lys)
c.272C>A (p.Thr91Lys)
c.182C>A (p.Thr61Lys)
c.800C>A (p.Thr267Lys)
c.1064C>A (p.Thr355Lys)
c.1034C>A (p.Thr345Lys)
11g.72230179C=CA1981897952INPPL1c.998C= (p.Thr333=)
c.272C= (p.Thr91=)
c.182C= (p.Thr61=)
c.800C= (p.Thr267=)
c.1064C= (p.Thr355=)
c.1034C= (p.Thr345=)
11g.72230179C>GCA381724093INPPL1c.998C>G (p.Thr333Arg)
c.272C>G (p.Thr91Arg)
c.182C>G (p.Thr61Arg)
c.800C>G (p.Thr267Arg)
c.1064C>G (p.Thr355Arg)
c.1034C>G (p.Thr345Arg)
11g.72230179C>TCA6169858INPPL1c.998C>T (p.Thr333Met)
c.272C>T (p.Thr91Met)
c.182C>T (p.Thr61Met)
c.800C>T (p.Thr267Met)
c.1064C>T (p.Thr355Met)
c.1034C>T (p.Thr345Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230180G>ACA6169859INPPL1c.999G>A (p.Thr333=)
c.273G>A (p.Thr91=)
c.183G>A (p.Thr61=)
c.801G>A (p.Thr267=)
c.1065G>A (p.Thr355=)
c.1035G>A (p.Thr345=)
dbSNP ExAC gnomAD v4
11g.72230180G>CCA475865989INPPL1c.999G>C (p.Thr333=)
c.273G>C (p.Thr91=)
c.183G>C (p.Thr61=)
c.801G>C (p.Thr267=)
c.1065G>C (p.Thr355=)
c.1035G>C (p.Thr345=)
11g.72230180G=CA1981897953INPPL1c.999G= (p.Thr333=)
c.273G= (p.Thr91=)
c.183G= (p.Thr61=)
c.801G= (p.Thr267=)
c.1065G= (p.Thr355=)
c.1035G= (p.Thr345=)
11g.72230180G>TCA475865990INPPL1c.999G>T (p.Thr333=)
c.273G>T (p.Thr91=)
c.183G>T (p.Thr61=)
c.801G>T (p.Thr267=)
c.1065G>T (p.Thr355=)
c.1035G>T (p.Thr345=)
11g.72230181C>ACA381724106INPPL1c.1000C>A (p.Leu334Met)
c.274C>A (p.Leu92Met)
c.184C>A (p.Leu62Met)
c.802C>A (p.Leu268Met)
c.1066C>A (p.Leu356Met)
c.1036C>A (p.Leu346Met)
11g.72230181C=CA1981897954INPPL1c.1000C= (p.Leu334=)
c.274C= (p.Leu92=)
c.184C= (p.Leu62=)
c.802C= (p.Leu268=)
c.1066C= (p.Leu356=)
c.1036C= (p.Leu346=)
11g.72230181C>GCA381724115INPPL1c.1000C>G (p.Leu334Val)
c.274C>G (p.Leu92Val)
c.184C>G (p.Leu62Val)
c.802C>G (p.Leu268Val)
c.1066C>G (p.Leu356Val)
c.1036C>G (p.Leu346Val)
11g.72230181C>TCA475865991INPPL1c.1000C>T (p.Leu334=)
c.274C>T (p.Leu92=)
c.184C>T (p.Leu62=)
c.802C>T (p.Leu268=)
c.1066C>T (p.Leu356=)
c.1036C>T (p.Leu346=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230182T>ACA381724142INPPL1c.1001T>A (p.Leu334Gln)
c.275T>A (p.Leu92Gln)
c.185T>A (p.Leu62Gln)
c.803T>A (p.Leu268Gln)
c.1067T>A (p.Leu356Gln)
c.1037T>A (p.Leu346Gln)
11g.72230182T>CCA381724139INPPL1c.1001T>C (p.Leu334Pro)
c.275T>C (p.Leu92Pro)
c.185T>C (p.Leu62Pro)
c.803T>C (p.Leu268Pro)
c.1067T>C (p.Leu356Pro)
c.1037T>C (p.Leu346Pro)
11g.72230182T>GCA381724136INPPL1c.1001T>G (p.Leu334Arg)
c.275T>G (p.Leu92Arg)
c.185T>G (p.Leu62Arg)
c.803T>G (p.Leu268Arg)
c.1067T>G (p.Leu356Arg)
c.1037T>G (p.Leu346Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230182T=CA1981897955INPPL1c.1001T= (p.Leu334=)
c.275T= (p.Leu92=)
c.185T= (p.Leu62=)
c.803T= (p.Leu268=)
c.1067T= (p.Leu356=)
c.1037T= (p.Leu346=)
11g.72230183G>ACA475865994INPPL1c.1002G>A (p.Leu334=)
c.276G>A (p.Leu92=)
c.186G>A (p.Leu62=)
c.804G>A (p.Leu268=)
c.1068G>A (p.Leu356=)
c.1038G>A (p.Leu346=)
11g.72230183G>CCA475865993INPPL1c.1002G>C (p.Leu334=)
c.276G>C (p.Leu92=)
c.186G>C (p.Leu62=)
c.804G>C (p.Leu268=)
c.1068G>C (p.Leu356=)
c.1038G>C (p.Leu346=)
11g.72230183G>TCA475865992INPPL1c.1002G>T (p.Leu334=)
c.276G>T (p.Leu92=)
c.186G>T (p.Leu62=)
c.804G>T (p.Leu268=)
c.1068G>T (p.Leu356=)
c.1038G>T (p.Leu346=)
11g.72230184A>CCA381724148INPPL1c.1003A>C (p.Ser335Arg)
c.277A>C (p.Ser93Arg)
c.187A>C (p.Ser63Arg)
c.805A>C (p.Ser269Arg)
c.1069A>C (p.Ser357Arg)
c.1039A>C (p.Ser347Arg)
11g.72230184A>GCA381724152INPPL1c.1003A>G (p.Ser335Gly)
c.277A>G (p.Ser93Gly)
c.187A>G (p.Ser63Gly)
c.805A>G (p.Ser269Gly)
c.1069A>G (p.Ser357Gly)
c.1039A>G (p.Ser347Gly)
11g.72230184A>TCA381724154INPPL1c.1003A>T (p.Ser335Cys)
c.277A>T (p.Ser93Cys)
c.187A>T (p.Ser63Cys)
c.805A>T (p.Ser269Cys)
c.1069A>T (p.Ser357Cys)
c.1039A>T (p.Ser347Cys)
11g.72230185G>ACA381724157INPPL1c.1004G>A (p.Ser335Asn)
c.278G>A (p.Ser93Asn)
c.188G>A (p.Ser63Asn)
c.806G>A (p.Ser269Asn)
c.1070G>A (p.Ser357Asn)
c.1040G>A (p.Ser347Asn)
11g.72230185G>CCA381724168INPPL1c.1004G>C (p.Ser335Thr)
c.278G>C (p.Ser93Thr)
c.188G>C (p.Ser63Thr)
c.806G>C (p.Ser269Thr)
c.1070G>C (p.Ser357Thr)
c.1040G>C (p.Ser347Thr)
11g.72230185G>TCA381724180INPPL1c.1004G>T (p.Ser335Ile)
c.278G>T (p.Ser93Ile)
c.188G>T (p.Ser63Ile)
c.806G>T (p.Ser269Ile)
c.1070G>T (p.Ser357Ile)
c.1040G>T (p.Ser347Ile)
11g.72230186C>ACA381724184INPPL1c.1005C>A (p.Ser335Arg)
c.279C>A (p.Ser93Arg)
c.189C>A (p.Ser63Arg)
c.807C>A (p.Ser269Arg)
c.1071C>A (p.Ser357Arg)
c.1041C>A (p.Ser347Arg)
dbSNP gnomAD v2
11g.72230186C=CA1981897956INPPL1c.1005C= (p.Ser335=)
c.279C= (p.Ser93=)
c.189C= (p.Ser63=)
c.807C= (p.Ser269=)
c.1071C= (p.Ser357=)
c.1041C= (p.Ser347=)
11g.72230186C>GCA381724198INPPL1c.1005C>G (p.Ser335Arg)
c.279C>G (p.Ser93Arg)
c.189C>G (p.Ser63Arg)
c.807C>G (p.Ser269Arg)
c.1071C>G (p.Ser357Arg)
c.1041C>G (p.Ser347Arg)
11g.72230186C>TCA6169860INPPL1c.1005C>T (p.Ser335=)
c.279C>T (p.Ser93=)
c.189C>T (p.Ser63=)
c.807C>T (p.Ser269=)
c.1071C>T (p.Ser357=)
c.1041C>T (p.Ser347=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230187G>ACA381724203INPPL1c.1006G>A (p.Val336Met)
c.280G>A (p.Val94Met)
c.190G>A (p.Val64Met)
c.808G>A (p.Val270Met)
c.1072G>A (p.Val358Met)
c.1042G>A (p.Val348Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72230187G>CCA381724206INPPL1c.1006G>C (p.Val336Leu)
c.280G>C (p.Val94Leu)
c.190G>C (p.Val64Leu)
c.808G>C (p.Val270Leu)
c.1072G>C (p.Val358Leu)
c.1042G>C (p.Val348Leu)
11g.72230187G=CA1981897957INPPL1c.1006G= (p.Val336=)
c.280G= (p.Val94=)
c.190G= (p.Val64=)
c.808G= (p.Val270=)
c.1072G= (p.Val358=)
c.1042G= (p.Val348=)
11g.72230187G>TCA381724211INPPL1c.1006G>T (p.Val336Leu)
c.280G>T (p.Val94Leu)
c.190G>T (p.Val64Leu)
c.808G>T (p.Val270Leu)
c.1072G>T (p.Val358Leu)
c.1042G>T (p.Val348Leu)
11g.72230188T>ACA381724217INPPL1c.1007T>A (p.Val336Glu)
c.281T>A (p.Val94Glu)
c.191T>A (p.Val64Glu)
c.809T>A (p.Val270Glu)
c.1073T>A (p.Val358Glu)
c.1043T>A (p.Val348Glu)
11g.72230188T>CCA381724241INPPL1c.1007T>C (p.Val336Ala)
c.281T>C (p.Val94Ala)
c.191T>C (p.Val64Ala)
c.809T>C (p.Val270Ala)
c.1073T>C (p.Val358Ala)
c.1043T>C (p.Val348Ala)
11g.72230188T>GCA381724260INPPL1c.1007T>G (p.Val336Gly)
c.281T>G (p.Val94Gly)
c.191T>G (p.Val64Gly)
c.809T>G (p.Val270Gly)
c.1073T>G (p.Val358Gly)
c.1043T>G (p.Val348Gly)
11g.72230189G>ACA6169861INPPL1c.1008G>A (p.Val336=)
c.282G>A (p.Val94=)
c.192G>A (p.Val64=)
c.810G>A (p.Val270=)
c.1074G>A (p.Val358=)
c.1044G>A (p.Val348=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230189G>CCA475865996INPPL1c.1008G>C (p.Val336=)
c.282G>C (p.Val94=)
c.192G>C (p.Val64=)
c.810G>C (p.Val270=)
c.1074G>C (p.Val358=)
c.1044G>C (p.Val348=)
11g.72230189G=CA1981897958INPPL1c.1008G= (p.Val336=)
c.282G= (p.Val94=)
c.192G= (p.Val64=)
c.810G= (p.Val270=)
c.1074G= (p.Val358=)
c.1044G= (p.Val348=)
11g.72230189G>TCA475865995INPPL1c.1008G>T (p.Val336=)
c.282G>T (p.Val94=)
c.192G>T (p.Val64=)
c.810G>T (p.Val270=)
c.1074G>T (p.Val358=)
c.1044G>T (p.Val348=)
11g.72230190G>ACA381724268INPPL1c.1009G>A (p.Asp337Asn)
c.283G>A (p.Asp95Asn)
c.193G>A (p.Asp65Asn)
c.811G>A (p.Asp271Asn)
c.1075G>A (p.Asp359Asn)
c.1045G>A (p.Asp349Asn)
11g.72230190G>CCA381724269INPPL1c.1009G>C (p.Asp337His)
c.283G>C (p.Asp95His)
c.193G>C (p.Asp65His)
c.811G>C (p.Asp271His)
c.1075G>C (p.Asp359His)
c.1045G>C (p.Asp349His)
dbSNP gnomAD v3 gnomAD v4
11g.72230190G=CA1981897959INPPL1c.1009G= (p.Asp337=)
c.283G= (p.Asp95=)
c.193G= (p.Asp65=)
c.811G= (p.Asp271=)
c.1075G= (p.Asp359=)
c.1045G= (p.Asp349=)
11g.72230190G>TCA381724271INPPL1c.1009G>T (p.Asp337Tyr)
c.283G>T (p.Asp95Tyr)
c.193G>T (p.Asp65Tyr)
c.811G>T (p.Asp271Tyr)
c.1075G>T (p.Asp359Tyr)
c.1045G>T (p.Asp349Tyr)
COSMIC
11g.72230191A>CCA381724288INPPL1c.1010A>C (p.Asp337Ala)
c.284A>C (p.Asp95Ala)
c.194A>C (p.Asp65Ala)
c.812A>C (p.Asp271Ala)
c.1076A>C (p.Asp359Ala)
c.1046A>C (p.Asp349Ala)
11g.72230191A>GCA381724281INPPL1c.1010A>G (p.Asp337Gly)
c.284A>G (p.Asp95Gly)
c.194A>G (p.Asp65Gly)
c.812A>G (p.Asp271Gly)
c.1076A>G (p.Asp359Gly)
c.1046A>G (p.Asp349Gly)
11g.72230191A>TCA381724277INPPL1c.1010A>T (p.Asp337Val)
c.284A>T (p.Asp95Val)
c.194A>T (p.Asp65Val)
c.812A>T (p.Asp271Val)
c.1076A>T (p.Asp359Val)
c.1046A>T (p.Asp349Val)
11g.72230192T>ACA381724289INPPL1c.1011T>A (p.Asp337Glu)
c.285T>A (p.Asp95Glu)
c.195T>A (p.Asp65Glu)
c.813T>A (p.Asp271Glu)
c.1077T>A (p.Asp359Glu)
c.1047T>A (p.Asp349Glu)
11g.72230192T>CCA475865997INPPL1c.1011T>C (p.Asp337=)
c.285T>C (p.Asp95=)
c.195T>C (p.Asp65=)
c.813T>C (p.Asp271=)
c.1077T>C (p.Asp359=)
c.1047T>C (p.Asp349=)
11g.72230192T>GCA381724295INPPL1c.1011T>G (p.Asp337Glu)
c.285T>G (p.Asp95Glu)
c.195T>G (p.Asp65Glu)
c.813T>G (p.Asp271Glu)
c.1077T>G (p.Asp359Glu)
c.1047T>G (p.Asp349Glu)
11g.72230193G>ACA381724300INPPL1c.1012G>A (p.Val338Met)
c.286G>A (p.Val96Met)
c.196G>A (p.Val66Met)
c.814G>A (p.Val272Met)
c.1078G>A (p.Val360Met)
c.1048G>A (p.Val350Met)
11g.72230193G>CCA381724317INPPL1c.1012G>C (p.Val338Leu)
c.286G>C (p.Val96Leu)
c.196G>C (p.Val66Leu)
c.814G>C (p.Val272Leu)
c.1078G>C (p.Val360Leu)
c.1048G>C (p.Val350Leu)
11g.72230193G=CA1981897960INPPL1c.1012G= (p.Val338=)
c.286G= (p.Val96=)
c.196G= (p.Val66=)
c.814G= (p.Val272=)
c.1078G= (p.Val360=)
c.1048G= (p.Val350=)
11g.72230193G>TCA6169862INPPL1c.1012G>T (p.Val338Leu)
c.286G>T (p.Val96Leu)
c.196G>T (p.Val66Leu)
c.814G>T (p.Val272Leu)
c.1078G>T (p.Val360Leu)
c.1048G>T (p.Val350Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230194T>ACA381724336INPPL1c.1013T>A (p.Val338Glu)
c.287T>A (p.Val96Glu)
c.197T>A (p.Val66Glu)
c.815T>A (p.Val272Glu)
c.1079T>A (p.Val360Glu)
c.1049T>A (p.Val350Glu)
11g.72230194T>CCA381724339INPPL1c.1013T>C (p.Val338Ala)
c.287T>C (p.Val96Ala)
c.197T>C (p.Val66Ala)
c.815T>C (p.Val272Ala)
c.1079T>C (p.Val360Ala)
c.1049T>C (p.Val350Ala)
gnomAD v4
11g.72230194T>GCA381724342INPPL1c.1013T>G (p.Val338Gly)
c.287T>G (p.Val96Gly)
c.197T>G (p.Val66Gly)
c.815T>G (p.Val272Gly)
c.1079T>G (p.Val360Gly)
c.1049T>G (p.Val350Gly)
11g.72230195G>ACA475865998INPPL1c.1014G>A (p.Val338=)
c.288G>A (p.Val96=)
c.198G>A (p.Val66=)
c.816G>A (p.Val272=)
c.1080G>A (p.Val360=)
c.1050G>A (p.Val350=)
gnomAD v4
11g.72230195G>CCA475865999INPPL1c.1014G>C (p.Val338=)
c.288G>C (p.Val96=)
c.198G>C (p.Val66=)
c.816G>C (p.Val272=)
c.1080G>C (p.Val360=)
c.1050G>C (p.Val350=)
11g.72230195G>TCA475866000INPPL1c.1014G>T (p.Val338=)
c.288G>T (p.Val96=)
c.198G>T (p.Val66=)
c.816G>T (p.Val272=)
c.1080G>T (p.Val360=)
c.1050G>T (p.Val350=)
11g.72230196G>ACA381724351INPPL1c.1015G>A (p.Glu339Lys)
c.289G>A (p.Glu97Lys)
c.199G>A (p.Glu67Lys)
c.817G>A (p.Glu273Lys)
c.1081G>A (p.Glu361Lys)
c.1051G>A (p.Glu351Lys)
gnomAD v4
11g.72230196G>CCA381724353INPPL1c.1015G>C (p.Glu339Gln)
c.289G>C (p.Glu97Gln)
c.199G>C (p.Glu67Gln)
c.817G>C (p.Glu273Gln)
c.1081G>C (p.Glu361Gln)
c.1051G>C (p.Glu351Gln)
11g.72230196G>TCA381724355INPPL1c.1015G>T (p.Glu339Ter)
c.289G>T (p.Glu97Ter)
c.199G>T (p.Glu67Ter)
c.817G>T (p.Glu273Ter)
c.1081G>T (p.Glu361Ter)
c.1051G>T (p.Glu351Ter)
11g.72230197A>CCA381724358INPPL1c.1016A>C (p.Glu339Ala)
c.290A>C (p.Glu97Ala)
c.200A>C (p.Glu67Ala)
c.818A>C (p.Glu273Ala)
c.1082A>C (p.Glu361Ala)
c.1052A>C (p.Glu351Ala)
11g.72230197A>GCA381724359INPPL1c.1016A>G (p.Glu339Gly)
c.290A>G (p.Glu97Gly)
c.200A>G (p.Glu67Gly)
c.818A>G (p.Glu273Gly)
c.1082A>G (p.Glu361Gly)
c.1052A>G (p.Glu351Gly)
11g.72230197A>TCA381724362INPPL1c.1016A>T (p.Glu339Val)
c.290A>T (p.Glu97Val)
c.200A>T (p.Glu67Val)
c.818A>T (p.Glu273Val)
c.1082A>T (p.Glu361Val)
c.1052A>T (p.Glu351Val)
11g.72230198G>ACA475866001INPPL1c.1017G>A (p.Glu339=)
c.291G>A (p.Glu97=)
c.201G>A (p.Glu67=)
c.819G>A (p.Glu273=)
c.1083G>A (p.Glu361=)
c.1053G>A (p.Glu351=)
dbSNP gnomAD v4
11g.72230198G>CCA381724370INPPL1c.1017G>C (p.Glu339Asp)
c.291G>C (p.Glu97Asp)
c.201G>C (p.Glu67Asp)
c.819G>C (p.Glu273Asp)
c.1083G>C (p.Glu361Asp)
c.1053G>C (p.Glu351Asp)
11g.72230198G=CA1981897961INPPL1c.1017G= (p.Glu339=)
c.291G= (p.Glu97=)
c.201G= (p.Glu67=)
c.819G= (p.Glu273=)
c.1083G= (p.Glu361=)
c.1053G= (p.Glu351=)
11g.72230198G>TCA381724371INPPL1c.1017G>T (p.Glu339Asp)
c.291G>T (p.Glu97Asp)
c.201G>T (p.Glu67Asp)
c.819G>T (p.Glu273Asp)
c.1083G>T (p.Glu361Asp)
c.1053G>T (p.Glu351Asp)
gnomAD v4
11g.72230199G>ACA381724372INPPL1c.1018G>A (p.Gly340Ser)
c.292G>A (p.Gly98Ser)
c.202G>A (p.Gly68Ser)
c.820G>A (p.Gly274Ser)
c.1084G>A (p.Gly362Ser)
c.1054G>A (p.Gly352Ser)
11g.72230199G>CCA381724376INPPL1c.1018G>C (p.Gly340Arg)
c.292G>C (p.Gly98Arg)
c.202G>C (p.Gly68Arg)
c.820G>C (p.Gly274Arg)
c.1084G>C (p.Gly362Arg)
c.1054G>C (p.Gly352Arg)
11g.72230199G=CA1981897962INPPL1c.1018G= (p.Gly340=)
c.292G= (p.Gly98=)
c.202G= (p.Gly68=)
c.820G= (p.Gly274=)
c.1084G= (p.Gly362=)
c.1054G= (p.Gly352=)
11g.72230199G>TCA6169863INPPL1c.1018G>T (p.Gly340Cys)
c.292G>T (p.Gly98Cys)
c.202G>T (p.Gly68Cys)
c.820G>T (p.Gly274Cys)
c.1084G>T (p.Gly362Cys)
c.1054G>T (p.Gly352Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230200G>ACA381724392INPPL1c.1019G>A (p.Gly340Asp)
c.293G>A (p.Gly98Asp)
c.203G>A (p.Gly68Asp)
c.821G>A (p.Gly274Asp)
c.1085G>A (p.Gly362Asp)
c.1055G>A (p.Gly352Asp)
dbSNP gnomAD v3 gnomAD v4
11g.72230200G>CCA381724395INPPL1c.1019G>C (p.Gly340Ala)
c.293G>C (p.Gly98Ala)
c.203G>C (p.Gly68Ala)
c.821G>C (p.Gly274Ala)
c.1085G>C (p.Gly362Ala)
c.1055G>C (p.Gly352Ala)
gnomAD v4
11g.72230200G=CA1981897963INPPL1c.1019G= (p.Gly340=)
c.293G= (p.Gly98=)
c.203G= (p.Gly68=)
c.821G= (p.Gly274=)
c.1085G= (p.Gly362=)
c.1055G= (p.Gly352=)
11g.72230200G>TCA381724403INPPL1c.1019G>T (p.Gly340Val)
c.293G>T (p.Gly98Val)
c.203G>T (p.Gly68Val)
c.821G>T (p.Gly274Val)
c.1085G>T (p.Gly362Val)
c.1055G>T (p.Gly352Val)
11g.72230201T>ACA475866002INPPL1c.1020T>A (p.Gly340=)
c.294T>A (p.Gly98=)
c.204T>A (p.Gly68=)
c.822T>A (p.Gly274=)
c.1086T>A (p.Gly362=)
c.1056T>A (p.Gly352=)
gnomAD v4
11g.72230201T>CCA475866003INPPL1c.1020T>C (p.Gly340=)
c.294T>C (p.Gly98=)
c.204T>C (p.Gly68=)
c.822T>C (p.Gly274=)
c.1086T>C (p.Gly362=)
c.1056T>C (p.Gly352=)
11g.72230201T>GCA475866004INPPL1c.1020T>G (p.Gly340=)
c.294T>G (p.Gly98=)
c.204T>G (p.Gly68=)
c.822T>G (p.Gly274=)
c.1086T>G (p.Gly362=)
c.1056T>G (p.Gly352=)
dbSNP
11g.72230201T=CA1981897964INPPL1c.1020T= (p.Gly340=)
c.294T= (p.Gly98=)
c.204T= (p.Gly68=)
c.822T= (p.Gly274=)
c.1086T= (p.Gly362=)
c.1056T= (p.Gly352=)
11g.72230202G>ACA381724412INPPL1c.1021G>A (p.Gly341Arg)
c.295G>A (p.Gly99Arg)
c.205G>A (p.Gly69Arg)
c.823G>A (p.Gly275Arg)
c.1087G>A (p.Gly363Arg)
c.1057G>A (p.Gly353Arg)
ClinVar dbSNP gnomAD v4
11g.72230202G>CCA381724419INPPL1c.1021G>C (p.Gly341Arg)
c.295G>C (p.Gly99Arg)
c.205G>C (p.Gly69Arg)
c.823G>C (p.Gly275Arg)
c.1087G>C (p.Gly363Arg)
c.1057G>C (p.Gly353Arg)
11g.72230202G=CA1981897965INPPL1c.1021G= (p.Gly341=)
c.295G= (p.Gly99=)
c.205G= (p.Gly69=)
c.823G= (p.Gly275=)
c.1087G= (p.Gly363=)
c.1057G= (p.Gly353=)
11g.72230202G>TCA381724423INPPL1c.1021G>T (p.Gly341Trp)
c.295G>T (p.Gly99Trp)
c.205G>T (p.Gly69Trp)
c.823G>T (p.Gly275Trp)
c.1087G>T (p.Gly363Trp)
c.1057G>T (p.Gly353Trp)
gnomAD v4
11g.72230203G>ACA381724435INPPL1c.1022G>A (p.Gly341Glu)
c.296G>A (p.Gly99Glu)
c.206G>A (p.Gly69Glu)
c.824G>A (p.Gly275Glu)
c.1088G>A (p.Gly363Glu)
c.1058G>A (p.Gly353Glu)
11g.72230203G>CCA381724439INPPL1c.1022G>C (p.Gly341Ala)
c.296G>C (p.Gly99Ala)
c.206G>C (p.Gly69Ala)
c.824G>C (p.Gly275Ala)
c.1088G>C (p.Gly363Ala)
c.1058G>C (p.Gly353Ala)
11g.72230203G>TCA381724440INPPL1c.1022G>T (p.Gly341Val)
c.296G>T (p.Gly99Val)
c.206G>T (p.Gly69Val)
c.824G>T (p.Gly275Val)
c.1088G>T (p.Gly363Val)
c.1058G>T (p.Gly353Val)
11g.72230204G>ACA475866005INPPL1c.1023G>A (p.Gly341=)
c.297G>A (p.Gly99=)
c.207G>A (p.Gly69=)
c.825G>A (p.Gly275=)
c.1089G>A (p.Gly363=)
c.1059G>A (p.Gly353=)
11g.72230204G>CCA475866006INPPL1c.1023G>C (p.Gly341=)
c.297G>C (p.Gly99=)
c.207G>C (p.Gly69=)
c.825G>C (p.Gly275=)
c.1089G>C (p.Gly363=)
c.1059G>C (p.Gly353=)
11g.72230204G=CA1981897966INPPL1c.1023G= (p.Gly341=)
c.297G= (p.Gly99=)
c.207G= (p.Gly69=)
c.825G= (p.Gly275=)
c.1089G= (p.Gly363=)
c.1059G= (p.Gly353=)
11g.72230204G>TCA6169864INPPL1c.1023G>T (p.Gly341=)
c.297G>T (p.Gly99=)
c.207G>T (p.Gly69=)
c.825G>T (p.Gly275=)
c.1089G>T (p.Gly363=)
c.1059G>T (p.Gly353=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230205C>ACA475866007INPPL1c.1024C>A (p.Arg342=)
c.298C>A (p.Arg100=)
c.208C>A (p.Arg70=)
c.826C>A (p.Arg276=)
c.1090C>A (p.Arg364=)
c.1060C>A (p.Arg354=)
11g.72230205C=CA1981897967INPPL1c.1024C= (p.Arg342=)
c.298C= (p.Arg100=)
c.208C= (p.Arg70=)
c.826C= (p.Arg276=)
c.1090C= (p.Arg364=)
c.1060C= (p.Arg354=)
11g.72230205C>GCA381724459INPPL1c.1024C>G (p.Arg342Gly)
c.298C>G (p.Arg100Gly)
c.208C>G (p.Arg70Gly)
c.826C>G (p.Arg276Gly)
c.1090C>G (p.Arg364Gly)
c.1060C>G (p.Arg354Gly)
11g.72230205C>TCA6169865INPPL1c.1024C>T (p.Arg342Trp)
c.298C>T (p.Arg100Trp)
c.208C>T (p.Arg70Trp)
c.826C>T (p.Arg276Trp)
c.1090C>T (p.Arg364Trp)
c.1060C>T (p.Arg354Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230206G>ACA6169866INPPL1c.1025G>A (p.Arg342Gln)
c.299G>A (p.Arg100Gln)
c.209G>A (p.Arg70Gln)
c.827G>A (p.Arg276Gln)
c.1091G>A (p.Arg364Gln)
c.1061G>A (p.Arg354Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.72230206G>CCA381724474INPPL1c.1025G>C (p.Arg342Pro)
c.299G>C (p.Arg100Pro)
c.209G>C (p.Arg70Pro)
c.827G>C (p.Arg276Pro)
c.1091G>C (p.Arg364Pro)
c.1061G>C (p.Arg354Pro)
11g.72230206G=CA1981897968INPPL1c.1025G= (p.Arg342=)
c.299G= (p.Arg100=)
c.209G= (p.Arg70=)
c.827G= (p.Arg276=)
c.1091G= (p.Arg364=)
c.1061G= (p.Arg354=)
11g.72230206G>TCA381724468INPPL1c.1025G>T (p.Arg342Leu)
c.299G>T (p.Arg100Leu)
c.209G>T (p.Arg70Leu)
c.827G>T (p.Arg276Leu)
c.1091G>T (p.Arg364Leu)
c.1061G>T (p.Arg354Leu)
11g.72230207G>ACA475866009INPPL1c.1026G>A (p.Arg342=)
c.300G>A (p.Arg100=)
c.210G>A (p.Arg70=)
c.828G>A (p.Arg276=)
c.1092G>A (p.Arg364=)
c.1062G>A (p.Arg354=)
gnomAD v4
11g.72230207G>CCA475866010INPPL1c.1026G>C (p.Arg342=)
c.300G>C (p.Arg100=)
c.210G>C (p.Arg70=)
c.828G>C (p.Arg276=)
c.1092G>C (p.Arg364=)
c.1062G>C (p.Arg354=)
11g.72230207G>TCA475866011INPPL1c.1026G>T (p.Arg342=)
c.300G>T (p.Arg100=)
c.210G>T (p.Arg70=)
c.828G>T (p.Arg276=)
c.1092G>T (p.Arg364=)
c.1062G>T (p.Arg354=)
11g.72230208C>ACA381724478INPPL1c.1027C>A (p.Leu343Met)
c.301C>A (p.Leu101Met)
c.211C>A (p.Leu71Met)
c.829C>A (p.Leu277Met)
c.1093C>A (p.Leu365Met)
c.1063C>A (p.Leu355Met)
11g.72230208C>GCA381724479INPPL1c.1027C>G (p.Leu343Val)
c.301C>G (p.Leu101Val)
c.211C>G (p.Leu71Val)
c.829C>G (p.Leu277Val)
c.1093C>G (p.Leu365Val)
c.1063C>G (p.Leu355Val)
11g.72230208C>TCA475866012INPPL1c.1027C>T (p.Leu343=)
c.301C>T (p.Leu101=)
c.211C>T (p.Leu71=)
c.829C>T (p.Leu277=)
c.1093C>T (p.Leu365=)
c.1063C>T (p.Leu355=)
11g.72230209T>ACA381724480INPPL1c.1028T>A (p.Leu343Gln)
c.302T>A (p.Leu101Gln)
c.212T>A (p.Leu71Gln)
c.830T>A (p.Leu277Gln)
c.1094T>A (p.Leu365Gln)
c.1064T>A (p.Leu355Gln)
11g.72230209T>CCA381724481INPPL1c.1028T>C (p.Leu343Pro)
c.302T>C (p.Leu101Pro)
c.212T>C (p.Leu71Pro)
c.830T>C (p.Leu277Pro)
c.1094T>C (p.Leu365Pro)
c.1064T>C (p.Leu355Pro)
11g.72230209T>GCA381724487INPPL1c.1028T>G (p.Leu343Arg)
c.302T>G (p.Leu101Arg)
c.212T>G (p.Leu71Arg)
c.830T>G (p.Leu277Arg)
c.1094T>G (p.Leu365Arg)
c.1064T>G (p.Leu355Arg)
11g.72230210G>ACA6169867INPPL1c.1029G>A (p.Leu343=)
c.303G>A (p.Leu101=)
c.213G>A (p.Leu71=)
c.831G>A (p.Leu277=)
c.1095G>A (p.Leu365=)
c.1065G>A (p.Leu355=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230210G>CCA475866013INPPL1c.1029G>C (p.Leu343=)
c.303G>C (p.Leu101=)
c.213G>C (p.Leu71=)
c.831G>C (p.Leu277=)
c.1095G>C (p.Leu365=)
c.1065G>C (p.Leu355=)
11g.72230210G=CA1981897969INPPL1c.1029G= (p.Leu343=)
c.303G= (p.Leu101=)
c.213G= (p.Leu71=)
c.831G= (p.Leu277=)
c.1095G= (p.Leu365=)
c.1065G= (p.Leu355=)
11g.72230210G>TCA475866014INPPL1c.1029G>T (p.Leu343=)
c.303G>T (p.Leu101=)
c.213G>T (p.Leu71=)
c.831G>T (p.Leu277=)
c.1095G>T (p.Leu365=)
c.1065G>T (p.Leu355=)
11g.72230211G>ACA381724496INPPL1c.1030G>A (p.Val344Met)
c.304G>A (p.Val102Met)
c.214G>A (p.Val72Met)
c.832G>A (p.Val278Met)
c.1096G>A (p.Val366Met)
c.1066G>A (p.Val356Met)
11g.72230211G>CCA381724497INPPL1c.1030G>C (p.Val344Leu)
c.304G>C (p.Val102Leu)
c.214G>C (p.Val72Leu)
c.832G>C (p.Val278Leu)
c.1096G>C (p.Val366Leu)
c.1066G>C (p.Val356Leu)
11g.72230211G>TCA381724498INPPL1c.1030G>T (p.Val344Leu)
c.304G>T (p.Val102Leu)
c.214G>T (p.Val72Leu)
c.832G>T (p.Val278Leu)
c.1096G>T (p.Val366Leu)
c.1066G>T (p.Val356Leu)
11g.72230212T>ACA381724500INPPL1c.1031T>A (p.Val344Glu)
c.305T>A (p.Val102Glu)
c.215T>A (p.Val72Glu)
c.833T>A (p.Val278Glu)
c.1097T>A (p.Val366Glu)
c.1067T>A (p.Val356Glu)
11g.72230212T>CCA381724503INPPL1c.1031T>C (p.Val344Ala)
c.305T>C (p.Val102Ala)
c.215T>C (p.Val72Ala)
c.833T>C (p.Val278Ala)
c.1097T>C (p.Val366Ala)
c.1067T>C (p.Val356Ala)
11g.72230212T>GCA381724504INPPL1c.1031T>G (p.Val344Gly)
c.305T>G (p.Val102Gly)
c.215T>G (p.Val72Gly)
c.833T>G (p.Val278Gly)
c.1097T>G (p.Val366Gly)
c.1067T>G (p.Val356Gly)
dbSNP gnomAD v2 gnomAD v4
11g.72230212T=CA1981897970INPPL1c.1031T= (p.Val344=)
c.305T= (p.Val102=)
c.215T= (p.Val72=)
c.833T= (p.Val278=)
c.1097T= (p.Val366=)
c.1067T= (p.Val356=)
11g.72230213G>ACA475866015INPPL1c.1032G>A (p.Val344=)
c.306G>A (p.Val102=)
c.216G>A (p.Val72=)
c.834G>A (p.Val278=)
c.1098G>A (p.Val366=)
c.1068G>A (p.Val356=)
11g.72230213G>CCA475866016INPPL1c.1032G>C (p.Val344=)
c.306G>C (p.Val102=)
c.216G>C (p.Val72=)
c.834G>C (p.Val278=)
c.1098G>C (p.Val366=)
c.1068G>C (p.Val356=)
gnomAD v4
11g.72230213G>TCA475866017INPPL1c.1032G>T (p.Val344=)
c.306G>T (p.Val102=)
c.216G>T (p.Val72=)
c.834G>T (p.Val278=)
c.1098G>T (p.Val366=)
c.1068G>T (p.Val356=)
11g.72230214C>ACA381724506INPPL1c.1033C>A (p.Leu345Met)
c.307C>A (p.Leu103Met)
c.217C>A (p.Leu73Met)
c.835C>A (p.Leu279Met)
c.1099C>A (p.Leu367Met)
c.1069C>A (p.Leu357Met)
11g.72230214C=CA1981897971INPPL1c.1033C= (p.Leu345=)
c.307C= (p.Leu103=)
c.217C= (p.Leu73=)
c.835C= (p.Leu279=)
c.1099C= (p.Leu367=)
c.1069C= (p.Leu357=)
11g.72230214C>GCA381724507INPPL1c.1033C>G (p.Leu345Val)
c.307C>G (p.Leu103Val)
c.217C>G (p.Leu73Val)
c.835C>G (p.Leu279Val)
c.1099C>G (p.Leu367Val)
c.1069C>G (p.Leu357Val)
11g.72230214C>TCA475866018INPPL1c.1033C>T (p.Leu345=)
c.307C>T (p.Leu103=)
c.217C>T (p.Leu73=)
c.835C>T (p.Leu279=)
c.1099C>T (p.Leu367=)
c.1069C>T (p.Leu357=)
dbSNP gnomAD v4
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

Number of alleles fetched