Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72230151_72230160dup | CA2573147665 | INPPL1 | c.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 |
11 | g.72230160G>A | CA381723898 | INPPL1 | c.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 |
11 | g.72230160G>C | CA381723900 | INPPL1 | c.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) | |
11 | g.72230160G= | CA1981897947 | INPPL1 | c.979G= (p.Gly327=) c.253G= (p.Gly85=) c.163G= (p.Gly55=) c.781G= (p.Gly261=) c.1045G= (p.Gly349=) c.1015G= (p.Gly339=) | |
11 | g.72230160G>T | CA381723913 | INPPL1 | c.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) | |
11 | g.72230161G>A | CA381723929 | INPPL1 | c.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 |
11 | g.72230161G>C | CA381723920 | INPPL1 | c.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 |
11 | g.72230161G= | CA1981897948 | INPPL1 | c.980G= (p.Gly327=) c.254G= (p.Gly85=) c.164G= (p.Gly55=) c.782G= (p.Gly261=) c.1046G= (p.Gly349=) c.1016G= (p.Gly339=) | |
11 | g.72230161G>T | CA381723917 | INPPL1 | c.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) | |
11 | g.72230162G>A | CA475865981 | INPPL1 | c.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=) | |
11 | g.72230162G>C | CA475865983 | INPPL1 | c.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=) | |
11 | g.72230162G>T | CA475865982 | INPPL1 | c.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=) | |
11 | g.72230163A>C | CA381723930 | INPPL1 | c.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) | |
11 | g.72230163A>G | CA381723932 | INPPL1 | c.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 |
11 | g.72230163A>T | CA381723934 | INPPL1 | c.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) | |
11 | g.72230164A>C | CA381723940 | INPPL1 | c.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) | |
11 | g.72230164A>G | CA381723945 | INPPL1 | c.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) | |
11 | g.72230164A>T | CA381723947 | INPPL1 | c.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) | |
11 | g.72230165G>A | CA475865984 | INPPL1 | c.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=) | |
11 | g.72230165G>C | CA381723951 | INPPL1 | c.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) | |
11 | g.72230165G>T | CA381723959 | INPPL1 | c.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) | |
11 | g.72230166T>A | CA381723961 | INPPL1 | c.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 |
11 | g.72230166T>C | CA381723963 | INPPL1 | c.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) | |
11 | g.72230166T>G | CA381723964 | INPPL1 | c.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) | |
11 | g.72230167C>A | CA381723986 | INPPL1 | c.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) | |
11 | g.72230167C>G | CA381723968 | INPPL1 | c.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) | |
11 | g.72230167C>T | CA381723967 | INPPL1 | c.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 |
11 | g.72230168A= | CA1981897949 | INPPL1 | c.987A= (p.Ser329=) c.261A= (p.Ser87=) c.171A= (p.Ser57=) c.789A= (p.Ser263=) c.1053A= (p.Ser351=) c.1023A= (p.Ser341=) | |
11 | g.72230168A>C | CA475865985 | INPPL1 | c.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=) | |
11 | g.72230168A>G | CA6169857 | INPPL1 | c.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 |
11 | g.72230168A>T | CA475865986 | INPPL1 | c.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 |
11 | g.72230169C>A | CA381723999 | INPPL1 | c.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) | |
11 | g.72230169C>G | CA381724001 | INPPL1 | c.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) | |
11 | g.72230169C>T | CA381724005 | INPPL1 | c.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 |
11 | g.72230170del | CA2614932049 | INPPL1 | c.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 |
11 | g.72230170A>C | CA381724006 | INPPL1 | c.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) | |
11 | g.72230170A>G | CA381724007 | INPPL1 | c.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) | |
11 | g.72230170A>T | CA381724008 | INPPL1 | c.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) | |
11 | g.72230171G>A | CA224375877 | INPPL1 | c.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 |
11 | g.72230171G>C | CA381724013 | INPPL1 | c.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) | |
11 | g.72230171G= | CA1981897950 | INPPL1 | c.990G= (p.Gln330=) c.264G= (p.Gln88=) c.174G= (p.Gln58=) c.792G= (p.Gln264=) c.1056G= (p.Gln352=) c.1026G= (p.Gln342=) | |
11 | g.72230171G>T | CA381724014 | INPPL1 | c.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) | |
11 | g.72230172A>C | CA381724016 | INPPL1 | c.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) | |
11 | g.72230172A>G | CA381724019 | INPPL1 | c.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) | |
11 | g.72230172A>T | CA381724027 | INPPL1 | c.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) | |
11 | g.72230173A>C | CA381724036 | INPPL1 | c.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 |
11 | g.72230173A>G | CA381724042 | INPPL1 | c.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) | |
11 | g.72230173A>T | CA381724041 | INPPL1 | c.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) | |
11 | g.72230174G>A | CA475865987 | INPPL1 | c.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=) | |
11 | g.72230174G>C | CA381724045 | INPPL1 | c.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) | |
11 | g.72230174G>T | CA381724047 | INPPL1 | c.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) | |
11 | g.72230175T>A | CA381724053 | INPPL1 | c.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) | |
11 | g.72230175T>C | CA381724055 | INPPL1 | c.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) | |
11 | g.72230175T>G | CA381724061 | INPPL1 | c.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 |
11 | g.72230176T>A | CA381724065 | INPPL1 | c.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) | |
11 | g.72230176T>C | CA381724072 | INPPL1 | c.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) | |
11 | g.72230176T>G | CA381724073 | INPPL1 | c.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) | |
11 | g.72230177C>A | CA381724079 | INPPL1 | c.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 |
11 | g.72230177C= | CA1981897951 | INPPL1 | c.996C= (p.Phe332=) c.270C= (p.Phe90=) c.180C= (p.Phe60=) c.798C= (p.Phe266=) c.1062C= (p.Phe354=) c.1032C= (p.Phe344=) | |
11 | g.72230177C>G | CA381724085 | INPPL1 | c.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 |
11 | g.72230177C>T | CA475865988 | INPPL1 | c.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=) | |
11 | g.72230177_72230182delinsGATGTG | CA2580084853 | INPPL1 | c.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 |
11 | g.72230178A>C | CA381724091 | INPPL1 | c.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) | |
11 | g.72230178A>G | CA381724092 | INPPL1 | c.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) | |
11 | g.72230178A>T | CA381724090 | INPPL1 | c.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) | |
11 | g.72230179C>A | CA381724098 | INPPL1 | c.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) | |
11 | g.72230179C= | CA1981897952 | INPPL1 | c.998C= (p.Thr333=) c.272C= (p.Thr91=) c.182C= (p.Thr61=) c.800C= (p.Thr267=) c.1064C= (p.Thr355=) c.1034C= (p.Thr345=) | |
11 | g.72230179C>G | CA381724093 | INPPL1 | c.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) | |
11 | g.72230179C>T | CA6169858 | INPPL1 | c.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 |
11 | g.72230180G>A | CA6169859 | INPPL1 | c.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 |
11 | g.72230180G>C | CA475865989 | INPPL1 | c.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=) | |
11 | g.72230180G= | CA1981897953 | INPPL1 | c.999G= (p.Thr333=) c.273G= (p.Thr91=) c.183G= (p.Thr61=) c.801G= (p.Thr267=) c.1065G= (p.Thr355=) c.1035G= (p.Thr345=) | |
11 | g.72230180G>T | CA475865990 | INPPL1 | c.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=) | |
11 | g.72230181C>A | CA381724106 | INPPL1 | c.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) | |
11 | g.72230181C= | CA1981897954 | INPPL1 | c.1000C= (p.Leu334=) c.274C= (p.Leu92=) c.184C= (p.Leu62=) c.802C= (p.Leu268=) c.1066C= (p.Leu356=) c.1036C= (p.Leu346=) | |
11 | g.72230181C>G | CA381724115 | INPPL1 | c.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) | |
11 | g.72230181C>T | CA475865991 | INPPL1 | c.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 |
11 | g.72230182T>A | CA381724142 | INPPL1 | c.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) | |
11 | g.72230182T>C | CA381724139 | INPPL1 | c.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) | |
11 | g.72230182T>G | CA381724136 | INPPL1 | c.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 |
11 | g.72230182T= | CA1981897955 | INPPL1 | c.1001T= (p.Leu334=) c.275T= (p.Leu92=) c.185T= (p.Leu62=) c.803T= (p.Leu268=) c.1067T= (p.Leu356=) c.1037T= (p.Leu346=) | |
11 | g.72230183G>A | CA475865994 | INPPL1 | c.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=) | |
11 | g.72230183G>C | CA475865993 | INPPL1 | c.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=) | |
11 | g.72230183G>T | CA475865992 | INPPL1 | c.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=) | |
11 | g.72230184A>C | CA381724148 | INPPL1 | c.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) | |
11 | g.72230184A>G | CA381724152 | INPPL1 | c.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) | |
11 | g.72230184A>T | CA381724154 | INPPL1 | c.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) | |
11 | g.72230185G>A | CA381724157 | INPPL1 | c.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) | |
11 | g.72230185G>C | CA381724168 | INPPL1 | c.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) | |
11 | g.72230185G>T | CA381724180 | INPPL1 | c.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) | |
11 | g.72230186C>A | CA381724184 | INPPL1 | c.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 |
11 | g.72230186C= | CA1981897956 | INPPL1 | c.1005C= (p.Ser335=) c.279C= (p.Ser93=) c.189C= (p.Ser63=) c.807C= (p.Ser269=) c.1071C= (p.Ser357=) c.1041C= (p.Ser347=) | |
11 | g.72230186C>G | CA381724198 | INPPL1 | c.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) | |
11 | g.72230186C>T | CA6169860 | INPPL1 | c.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 |
11 | g.72230187G>A | CA381724203 | INPPL1 | c.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 |
11 | g.72230187G>C | CA381724206 | INPPL1 | c.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) | |
11 | g.72230187G= | CA1981897957 | INPPL1 | c.1006G= (p.Val336=) c.280G= (p.Val94=) c.190G= (p.Val64=) c.808G= (p.Val270=) c.1072G= (p.Val358=) c.1042G= (p.Val348=) | |
11 | g.72230187G>T | CA381724211 | INPPL1 | c.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) | |
11 | g.72230188T>A | CA381724217 | INPPL1 | c.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) | |
11 | g.72230188T>C | CA381724241 | INPPL1 | c.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) | |
11 | g.72230188T>G | CA381724260 | INPPL1 | c.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) | |
11 | g.72230189G>A | CA6169861 | INPPL1 | c.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 |
11 | g.72230189G>C | CA475865996 | INPPL1 | c.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=) | |
11 | g.72230189G= | CA1981897958 | INPPL1 | c.1008G= (p.Val336=) c.282G= (p.Val94=) c.192G= (p.Val64=) c.810G= (p.Val270=) c.1074G= (p.Val358=) c.1044G= (p.Val348=) | |
11 | g.72230189G>T | CA475865995 | INPPL1 | c.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=) | |
11 | g.72230190G>A | CA381724268 | INPPL1 | c.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) | |
11 | g.72230190G>C | CA381724269 | INPPL1 | c.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 |
11 | g.72230190G= | CA1981897959 | INPPL1 | c.1009G= (p.Asp337=) c.283G= (p.Asp95=) c.193G= (p.Asp65=) c.811G= (p.Asp271=) c.1075G= (p.Asp359=) c.1045G= (p.Asp349=) | |
11 | g.72230190G>T | CA381724271 | INPPL1 | c.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 |
11 | g.72230191A>C | CA381724288 | INPPL1 | c.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) | |
11 | g.72230191A>G | CA381724281 | INPPL1 | c.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) | |
11 | g.72230191A>T | CA381724277 | INPPL1 | c.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) | |
11 | g.72230192T>A | CA381724289 | INPPL1 | c.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) | |
11 | g.72230192T>C | CA475865997 | INPPL1 | c.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=) | |
11 | g.72230192T>G | CA381724295 | INPPL1 | c.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) | |
11 | g.72230193G>A | CA381724300 | INPPL1 | c.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) | |
11 | g.72230193G>C | CA381724317 | INPPL1 | c.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) | |
11 | g.72230193G= | CA1981897960 | INPPL1 | c.1012G= (p.Val338=) c.286G= (p.Val96=) c.196G= (p.Val66=) c.814G= (p.Val272=) c.1078G= (p.Val360=) c.1048G= (p.Val350=) | |
11 | g.72230193G>T | CA6169862 | INPPL1 | c.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 |
11 | g.72230194T>A | CA381724336 | INPPL1 | c.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) | |
11 | g.72230194T>C | CA381724339 | INPPL1 | c.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 |
11 | g.72230194T>G | CA381724342 | INPPL1 | c.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) | |
11 | g.72230195G>A | CA475865998 | INPPL1 | c.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 |
11 | g.72230195G>C | CA475865999 | INPPL1 | c.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=) | |
11 | g.72230195G>T | CA475866000 | INPPL1 | c.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=) | |
11 | g.72230196G>A | CA381724351 | INPPL1 | c.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 |
11 | g.72230196G>C | CA381724353 | INPPL1 | c.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) | |
11 | g.72230196G>T | CA381724355 | INPPL1 | c.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) | |
11 | g.72230197A>C | CA381724358 | INPPL1 | c.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) | |
11 | g.72230197A>G | CA381724359 | INPPL1 | c.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) | |
11 | g.72230197A>T | CA381724362 | INPPL1 | c.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) | |
11 | g.72230198G>A | CA475866001 | INPPL1 | c.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 |
11 | g.72230198G>C | CA381724370 | INPPL1 | c.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) | |
11 | g.72230198G= | CA1981897961 | INPPL1 | c.1017G= (p.Glu339=) c.291G= (p.Glu97=) c.201G= (p.Glu67=) c.819G= (p.Glu273=) c.1083G= (p.Glu361=) c.1053G= (p.Glu351=) | |
11 | g.72230198G>T | CA381724371 | INPPL1 | c.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 |
11 | g.72230199G>A | CA381724372 | INPPL1 | c.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) | |
11 | g.72230199G>C | CA381724376 | INPPL1 | c.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) | |
11 | g.72230199G= | CA1981897962 | INPPL1 | c.1018G= (p.Gly340=) c.292G= (p.Gly98=) c.202G= (p.Gly68=) c.820G= (p.Gly274=) c.1084G= (p.Gly362=) c.1054G= (p.Gly352=) | |
11 | g.72230199G>T | CA6169863 | INPPL1 | c.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 |
11 | g.72230200G>A | CA381724392 | INPPL1 | c.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 |
11 | g.72230200G>C | CA381724395 | INPPL1 | c.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 |
11 | g.72230200G= | CA1981897963 | INPPL1 | c.1019G= (p.Gly340=) c.293G= (p.Gly98=) c.203G= (p.Gly68=) c.821G= (p.Gly274=) c.1085G= (p.Gly362=) c.1055G= (p.Gly352=) | |
11 | g.72230200G>T | CA381724403 | INPPL1 | c.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) | |
11 | g.72230201T>A | CA475866002 | INPPL1 | c.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 |
11 | g.72230201T>C | CA475866003 | INPPL1 | c.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=) | |
11 | g.72230201T>G | CA475866004 | INPPL1 | c.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 |
11 | g.72230201T= | CA1981897964 | INPPL1 | c.1020T= (p.Gly340=) c.294T= (p.Gly98=) c.204T= (p.Gly68=) c.822T= (p.Gly274=) c.1086T= (p.Gly362=) c.1056T= (p.Gly352=) | |
11 | g.72230202G>A | CA381724412 | INPPL1 | c.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 |
11 | g.72230202G>C | CA381724419 | INPPL1 | c.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) | |
11 | g.72230202G= | CA1981897965 | INPPL1 | c.1021G= (p.Gly341=) c.295G= (p.Gly99=) c.205G= (p.Gly69=) c.823G= (p.Gly275=) c.1087G= (p.Gly363=) c.1057G= (p.Gly353=) | |
11 | g.72230202G>T | CA381724423 | INPPL1 | c.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 |
11 | g.72230203G>A | CA381724435 | INPPL1 | c.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) | |
11 | g.72230203G>C | CA381724439 | INPPL1 | c.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) | |
11 | g.72230203G>T | CA381724440 | INPPL1 | c.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) | |
11 | g.72230204G>A | CA475866005 | INPPL1 | c.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=) | |
11 | g.72230204G>C | CA475866006 | INPPL1 | c.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=) | |
11 | g.72230204G= | CA1981897966 | INPPL1 | c.1023G= (p.Gly341=) c.297G= (p.Gly99=) c.207G= (p.Gly69=) c.825G= (p.Gly275=) c.1089G= (p.Gly363=) c.1059G= (p.Gly353=) | |
11 | g.72230204G>T | CA6169864 | INPPL1 | c.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 |
11 | g.72230205C>A | CA475866007 | INPPL1 | c.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=) | |
11 | g.72230205C= | CA1981897967 | INPPL1 | c.1024C= (p.Arg342=) c.298C= (p.Arg100=) c.208C= (p.Arg70=) c.826C= (p.Arg276=) c.1090C= (p.Arg364=) c.1060C= (p.Arg354=) | |
11 | g.72230205C>G | CA381724459 | INPPL1 | c.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) | |
11 | g.72230205C>T | CA6169865 | INPPL1 | c.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 |
11 | g.72230206G>A | CA6169866 | INPPL1 | c.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 |
11 | g.72230206G>C | CA381724474 | INPPL1 | c.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) | |
11 | g.72230206G= | CA1981897968 | INPPL1 | c.1025G= (p.Arg342=) c.299G= (p.Arg100=) c.209G= (p.Arg70=) c.827G= (p.Arg276=) c.1091G= (p.Arg364=) c.1061G= (p.Arg354=) | |
11 | g.72230206G>T | CA381724468 | INPPL1 | c.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) | |
11 | g.72230207G>A | CA475866009 | INPPL1 | c.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 |
11 | g.72230207G>C | CA475866010 | INPPL1 | c.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=) | |
11 | g.72230207G>T | CA475866011 | INPPL1 | c.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=) | |
11 | g.72230208C>A | CA381724478 | INPPL1 | c.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) | |
11 | g.72230208C>G | CA381724479 | INPPL1 | c.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) | |
11 | g.72230208C>T | CA475866012 | INPPL1 | c.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=) | |
11 | g.72230209T>A | CA381724480 | INPPL1 | c.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) | |
11 | g.72230209T>C | CA381724481 | INPPL1 | c.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) | |
11 | g.72230209T>G | CA381724487 | INPPL1 | c.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) | |
11 | g.72230210G>A | CA6169867 | INPPL1 | c.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 |
11 | g.72230210G>C | CA475866013 | INPPL1 | c.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=) | |
11 | g.72230210G= | CA1981897969 | INPPL1 | c.1029G= (p.Leu343=) c.303G= (p.Leu101=) c.213G= (p.Leu71=) c.831G= (p.Leu277=) c.1095G= (p.Leu365=) c.1065G= (p.Leu355=) | |
11 | g.72230210G>T | CA475866014 | INPPL1 | c.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=) | |
11 | g.72230211G>A | CA381724496 | INPPL1 | c.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) | |
11 | g.72230211G>C | CA381724497 | INPPL1 | c.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) | |
11 | g.72230211G>T | CA381724498 | INPPL1 | c.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) | |
11 | g.72230212T>A | CA381724500 | INPPL1 | c.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) | |
11 | g.72230212T>C | CA381724503 | INPPL1 | c.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) | |
11 | g.72230212T>G | CA381724504 | INPPL1 | c.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 |
11 | g.72230212T= | CA1981897970 | INPPL1 | c.1031T= (p.Val344=) c.305T= (p.Val102=) c.215T= (p.Val72=) c.833T= (p.Val278=) c.1097T= (p.Val366=) c.1067T= (p.Val356=) | |
11 | g.72230213G>A | CA475866015 | INPPL1 | c.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=) | |
11 | g.72230213G>C | CA475866016 | INPPL1 | c.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 |
11 | g.72230213G>T | CA475866017 | INPPL1 | c.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=) | |
11 | g.72230214C>A | CA381724506 | INPPL1 | c.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) | |
11 | g.72230214C= | CA1981897971 | INPPL1 | c.1033C= (p.Leu345=) c.307C= (p.Leu103=) c.217C= (p.Leu73=) c.835C= (p.Leu279=) c.1099C= (p.Leu367=) c.1069C= (p.Leu357=) | |
11 | g.72230214C>G | CA381724507 | INPPL1 | c.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) | |
11 | g.72230214C>T | CA475866018 | INPPL1 | c.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 |
11 | g.72230215T>A | CA381724520 | INPPL1 | c.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) | |
11 | g.72230215T>C | CA381724512 | INPPL1 | c.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 |
11 | g.72230215T>G | CA381724518 | INPPL1 | c.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) | |
11 | g.72230216G>A | CA6169868 | INPPL1 | c.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 |
11 | g.72230216G>C | CA475866019 | INPPL1 | c.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=) | |
11 | g.72230216G= | CA1981897972 | INPPL1 | c.1035G= (p.Leu345=) c.309G= (p.Leu103=) c.219G= (p.Leu73=) c.837G= (p.Leu279=) c.1101G= (p.Leu367=) c.1071G= (p.Leu357=) | |
11 | g.72230216G>T | CA475866020 | INPPL1 | c.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 |
11 | g.72230217C>A | CA381724524 | INPPL1 | c.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) | |
11 | g.72230217C= | CA1981897973 | INPPL1 | c.1036C= (p.Leu346=) c.310C= (p.Leu104=) c.220C= (p.Leu74=) c.838C= (p.Leu280=) c.1102C= (p.Leu368=) c.1072C= (p.Leu358=) | |
11 | g.72230217C>G | CA381724527 | INPPL1 | c.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) | |
11 | g.72230217C>T | CA475866021 | INPPL1 | c.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 |
11 | g.72230218T>A | CA381724528 | INPPL1 | c.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) | |
11 | g.72230218T>C | CA381724530 | INPPL1 | c.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 |
11 | g.72230218T>G | CA381724533 | INPPL1 | c.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) | |
11 | g.72230219G>A | CA475866022 | INPPL1 | c.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=) | |
11 | g.72230219G>C | CA475866023 | INPPL1 | c.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=) | |
11 | g.72230219G>T | CA475866024 | INPPL1 | c.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=) | |
11 | g.72230220C>A | CA475866025 | INPPL1 | c.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=) | |
11 | g.72230220C= | CA1981897974 | INPPL1 | c.1039C= (p.Arg347=) c.313C= (p.Arg105=) c.223C= (p.Arg75=) c.841C= (p.Arg281=) c.1105C= (p.Arg369=) c.1075C= (p.Arg359=) | |
11 | g.72230220C>G | CA381724535 | INPPL1 | c.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) | |
11 | g.72230220C>T | CA6169869 | INPPL1 | c.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 |
11 | g.72230221G>A | CA6169870 | INPPL1 | c.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 |
11 | g.72230221G>C | CA381724550 | INPPL1 | c.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) | |
11 | g.72230221G= | CA1981897975 | INPPL1 | c.1040G= (p.Arg347=) c.314G= (p.Arg105=) c.224G= (p.Arg75=) c.842G= (p.Arg281=) c.1106G= (p.Arg369=) c.1076G= (p.Arg359=) | |
11 | g.72230221G>T | CA381724560 | INPPL1 | c.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) | |
11 | g.72230222del | CA2614932092 | INPPL1 | c.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 |
11 | g.72230224_72230233del | CA2614932093 | INPPL1 | c.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 |
11 | g.72230222G>A | CA475866028 | INPPL1 | c.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=) | |
11 | g.72230222G>C | CA475866027 | INPPL1 | c.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 |
11 | g.72230222G>T | CA475866026 | INPPL1 | c.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=) | |
11 | g.72230223A>C | CA475866029 | INPPL1 | c.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=) | |
11 | g.72230223A>G | CA381724564 | INPPL1 | c.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) | |
11 | g.72230223A>T | CA381724565 | INPPL1 | c.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) | |
11 | g.72230224G>A | CA381724567 | INPPL1 | c.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) | |
11 | g.72230224G>C | CA381724568 | INPPL1 | c.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 |
11 | g.72230224G>T | CA381724570 | INPPL1 | c.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) | |
11 | g.72230225A>C | CA381724573 | INPPL1 | c.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) | |
11 | g.72230225A>G | CA475866030 | INPPL1 | c.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 |
11 | g.72230225A>T | CA381724578 | INPPL1 | c.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) | |
11 | g.72230226C>A | CA381724582 | INPPL1 | c.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) | |
11 | g.72230226C>G | CA381724585 | INPPL1 | c.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) | |
11 | g.72230226C>T | CA381724587 | INPPL1 | c.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 |
11 | g.72230227A>C | CA381724595 | INPPL1 | c.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) | |
11 | g.72230227A>G | CA381724597 | INPPL1 | c.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) | |
11 | g.72230227A>T | CA381724600 | INPPL1 | c.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) | |
11 | g.72230228G>A | CA6169871 | INPPL1 | c.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 |
11 | g.72230228G>C | CA381724607 | INPPL1 | c.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) | |
11 | g.72230228G= | CA1981897976 | INPPL1 | c.1047G= (p.Gln349=) c.321G= (p.Gln107=) c.231G= (p.Gln77=) c.849G= (p.Gln283=) c.1113G= (p.Gln371=) c.1083G= (p.Gln361=) | |
11 | g.72230228G>T | CA381724605 | INPPL1 | c.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) | |
11 | g.72230229C>A | CA475866031 | INPPL1 | c.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=) | |
11 | g.72230229C= | CA1981897977 | INPPL1 | c.1048C= (p.Arg350=) c.322C= (p.Arg108=) c.232C= (p.Arg78=) c.850C= (p.Arg284=) c.1114C= (p.Arg372=) c.1084C= (p.Arg362=) | |
11 | g.72230229C>G | CA381724610 | INPPL1 | c.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) | |
11 | g.72230229C>T | CA6169872 | INPPL1 | c.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 |
11 | g.72230230G>A | CA6169873 | INPPL1 | c.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 |
11 | g.72230230G>C | CA381724615 | INPPL1 | c.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) | |
11 | g.72230230G= | CA1981897978 | INPPL1 | c.1049G= (p.Arg350=) c.323G= (p.Arg108=) c.233G= (p.Arg78=) c.851G= (p.Arg284=) c.1115G= (p.Arg372=) c.1085G= (p.Arg362=) | |
11 | g.72230230G>T | CA381724618 | INPPL1 | c.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) | |
11 | g.72230231G>A | CA475866032 | INPPL1 | c.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=) | |
11 | g.72230231G>C | CA475866033 | INPPL1 | c.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=) | |
11 | g.72230231G>T | CA475866034 | INPPL1 | c.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=) | |
11 | g.72230232G>A | CA381724622 | INPPL1 | c.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) | |
11 | g.72230232G>C | CA381724625 | INPPL1 | c.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) | |
11 | g.72230232G>T | CA381724627 | INPPL1 | c.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) | |
11 | g.72230233A>C | CA381724629 | INPPL1 | c.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) | |
11 | g.72230233A>G | CA381724631 | INPPL1 | c.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) | |
11 | g.72230233A>T | CA381724633 | INPPL1 | c.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) | |
11 | g.72230234C>A | CA381724637 | INPPL1 | c.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 |
11 | g.72230234C>G | CA381724640 | INPPL1 | c.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) | |
11 | g.72230234C>T | CA475866035 | INPPL1 | c.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 |
11 | g.72230235T>A | CA381724646 | INPPL1 | c.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) | |
11 | g.72230235T>C | CA381724651 | INPPL1 | c.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) | |
11 | g.72230235T>G | CA381724643 | INPPL1 | c.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) | |
11 | g.72230236C>A | CA381724654 | INPPL1 | c.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 |
11 | g.72230236C>G | CA381724655 | INPPL1 | c.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) | |
11 | g.72230236C>T | CA381724659 | INPPL1 | c.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 |
11 | g.72230237C>A | CA475866037 | INPPL1 | c.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=) | |
11 | g.72230237C= | CA1981897979 | INPPL1 | c.1056C= (p.Ser352=) c.330C= (p.Ser110=) c.240C= (p.Ser80=) c.858C= (p.Ser286=) c.1122C= (p.Ser374=) c.1092C= (p.Ser364=) | |
11 | g.72230237C>G | CA224375936 | INPPL1 | c.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 |
11 | g.72230237C>T | CA475866036 | INPPL1 | c.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 |
11 | g.72230238C>A | CA381724660 | INPPL1 | c.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) | |
11 | g.72230238C= | CA1981897980 | INPPL1 | c.1057C= (p.Gln353=) c.331C= (p.Gln111=) c.241C= (p.Gln81=) c.859C= (p.Gln287=) c.1123C= (p.Gln375=) c.1093C= (p.Gln365=) | |
11 | g.72230238C>G | CA6169874 | INPPL1 | c.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 |
11 | g.72230238C>T | CA381724663 | INPPL1 | c.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 |
11 | g.72230239A>C | CA381724671 | INPPL1 | c.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) | |
11 | g.72230239A>G | CA381724667 | INPPL1 | c.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) | |
11 | g.72230239A>T | CA381724668 | INPPL1 | c.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) | |
11 | g.72230240G>A | CA475866038 | INPPL1 | c.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=) | |
11 | g.72230240G>C | CA381724676 | INPPL1 | c.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) | |
11 | g.72230240G= | CA1981897981 | INPPL1 | c.1059G= (p.Gln353=) c.333G= (p.Gln111=) c.243G= (p.Gln81=) c.861G= (p.Gln287=) c.1125G= (p.Gln375=) c.1095G= (p.Gln365=) | |
11 | g.72230240G>T | CA6169875 | INPPL1 | c.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 |
11 | g.72230241G>A | CA381724680 | INPPL1 | c.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) | |
11 | g.72230241G>C | CA381724682 | INPPL1 | c.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) | |
11 | g.72230241G>T | CA381724686 | INPPL1 | c.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) | |
11 | g.72230242A>C | CA381724695 | INPPL1 | c.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) | |
11 | g.72230242A>G | CA381724689 | INPPL1 | c.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) | |
11 | g.72230242A>T | CA381724694 | INPPL1 | c.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) | |
11 | g.72230243G>A | CA475866039 | INPPL1 | c.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 |
11 | g.72230243G>C | CA381724698 | INPPL1 | c.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 |
11 | g.72230243G= | CA1981897982 | INPPL1 | c.1062G= (p.Glu354=) c.336G= (p.Glu112=) c.246G= (p.Glu82=) c.864G= (p.Glu288=) c.1128G= (p.Glu376=) c.1098G= (p.Glu366=) | |
11 | g.72230243G>T | CA381724709 | INPPL1 | c.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) | |
11 | g.72230244G>A | CA381724711 | INPPL1 | c.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) | |
11 | g.72230244G>C | CA381724715 | INPPL1 | c.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) | |
11 | g.72230244G>T | CA381724718 | INPPL1 | c.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) | |
11 | g.72230245A>C | CA381724721 | INPPL1 | c.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) | |
11 | g.72230245A>G | CA381724723 | INPPL1 | c.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 |
11 | g.72230245A>T | CA381724726 | INPPL1 | c.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) | |
11 | g.72230246C>A | CA381724730 | INPPL1 | c.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) | |
11 | g.72230246C>G | CA381724734 | INPPL1 | c.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) | |
11 | g.72230246C>T | CA475866040 | INPPL1 | c.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=) | |
11 | g.72230247T>A | CA381724736 | INPPL1 | c.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) | |
11 | g.72230247T>C | CA381724737 | INPPL1 | c.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) | |
11 | g.72230247T>G | CA381724738 | INPPL1 | c.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) | |
11 | g.72230248G>A | CA381724741 | INPPL1 | c.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) | |
11 | g.72230248G>C | CA381724745 | INPPL1 | c.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) | |
11 | g.72230248G>T | CA381724742 | INPPL1 | c.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) | |
11 | g.72230249G>A | CA381724748 | INPPL1 | c.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 |
11 | g.72230249G>C | CA381724751 | INPPL1 | c.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) | |
11 | g.72230249G>T | CA381724753 | INPPL1 | c.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) | |
11 | g.72230250A= | CA1981897983 | INPPL1 | c.1069A= (p.Thr357=) c.343A= (p.Thr115=) c.253A= (p.Thr85=) c.871A= (p.Thr291=) c.1135A= (p.Thr379=) c.1105A= (p.Thr369=) | |
11 | g.72230250A>C | CA381724757 | INPPL1 | c.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 |
11 | g.72230250A>G | CA381724759 | INPPL1 | c.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) | |
11 | g.72230250A>T | CA381724761 | INPPL1 | c.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 |
11 | g.72230251C>A | CA381724765 | INPPL1 | c.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 |
11 | g.72230251C>G | CA381724772 | INPPL1 | c.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) | |
11 | g.72230251C>T | CA381724775 | INPPL1 | c.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) | |
11 | g.72230252dup | CA2614932146 | INPPL1 | c.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 |
11 | g.72230252C>A | CA475866041 | INPPL1 | c.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=) | |
11 | g.72230252C= | CA1981897984 | INPPL1 | c.1071C= (p.Thr357=) c.345C= (p.Thr115=) c.255C= (p.Thr85=) c.873C= (p.Thr291=) c.1137C= (p.Thr379=) c.1107C= (p.Thr369=) | |
11 | g.72230252C>G | CA475866042 | INPPL1 | c.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=) | |
11 | g.72230252C>T | CA6169876 | INPPL1 | c.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 |
11 | g.72230253A= | CA1981897985 | INPPL1 | c.1072A= (p.Thr358=) c.346A= (p.Thr116=) c.256A= (p.Thr86=) c.874A= (p.Thr292=) c.1138A= (p.Thr380=) c.1108A= (p.Thr370=) | |
11 | g.72230253A>C | CA381724781 | INPPL1 | c.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) | |
11 | g.72230253A>G | CA6169877 | INPPL1 | c.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 |
11 | g.72230253A>T | CA381724784 | INPPL1 | c.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 |
11 | g.72230254C>A | CA381724794 | INPPL1 | c.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 |
11 | g.72230254C= | CA1981897986 | INPPL1 | c.1073C= (p.Thr358=) c.347C= (p.Thr116=) c.257C= (p.Thr86=) c.875C= (p.Thr292=) c.1139C= (p.Thr380=) c.1109C= (p.Thr370=) | |
11 | g.72230254C>G | CA381724788 | INPPL1 | c.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) | |
11 | g.72230254C>T | CA381724791 | INPPL1 | c.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 |
11 | g.72230255C>A | CA475866043 | INPPL1 | c.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=) | |
11 | g.72230255C= | CA1981897987 | INPPL1 | c.1074C= (p.Thr358=) c.348C= (p.Thr116=) c.258C= (p.Thr86=) c.876C= (p.Thr292=) c.1140C= (p.Thr380=) c.1110C= (p.Thr370=) | |
11 | g.72230255C>G | CA475866044 | INPPL1 | c.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=) | |
11 | g.72230255C>T | CA475866045 | INPPL1 | c.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 |
11 | g.72230256T>A | CA381724797 | INPPL1 | c.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) | |
11 | g.72230256T>C | CA381724799 | INPPL1 | c.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) | |
11 | g.72230256T>G | CA381724802 | INPPL1 | c.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) | |
11 | g.72230257T>A | CA381724806 | INPPL1 | c.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) | |
11 | g.72230257T>C | CA381724808 | INPPL1 | c.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 |
11 | g.72230257T>G | CA381724811 | INPPL1 | c.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) | |
11 | g.72230258C>A | CA381724814 | INPPL1 | c.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 |
11 | g.72230258C= | CA1981897988 | INPPL1 | c.1077C= (p.Phe359=) c.351C= (p.Phe117=) c.261C= (p.Phe87=) c.879C= (p.Phe293=) c.1143C= (p.Phe381=) c.1113C= (p.Phe371=) | |
11 | g.72230258C>G | CA381724815 | INPPL1 | c.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) | |
11 | g.72230258C>T | CA6169878 | INPPL1 | c.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 |
11 | g.72230259A>C | CA381724819 | INPPL1 | c.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) | |
11 | g.72230259A>G | CA381724822 | INPPL1 | c.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) | |
11 | g.72230259A>T | CA381724831 | INPPL1 | c.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) | |
11 | g.72230260C>A | CA6169879 | INPPL1 | c.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 |
11 | g.72230260C= | CA1981897989 | INPPL1 | c.1079C= (p.Thr360=) c.353C= (p.Thr118=) c.263C= (p.Thr88=) c.881C= (p.Thr294=) c.1145C= (p.Thr382=) c.1115C= (p.Thr372=) | |
11 | g.72230260C>G | CA381724836 | INPPL1 | c.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) | |
11 | g.72230260C>T | CA6169880 | INPPL1 | c.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 |