Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72230375_72230423delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG | CA1981898045 | INPPL1 | c.1104_1152delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile368=) c.378_426delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile126=) c.288_336delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile96=) c.906_954delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile302=) c.1170_1218delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile390=) c.1140_1188delinsTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAG (p.Ile380=) | |
11 | g.72230379_72230426del | CA891862927 | INPPL1 | c.1108_1155del (p.Ser370_Lys385del) c.382_429del (p.Ser128_Lys143del) c.292_339del (p.Ser98_Lys113del) c.910_957del (p.Ser304_Lys319del) c.1174_1221del (p.Ser392_Lys407del) c.1144_1191del (p.Ser382_Lys397del) | ClinVar dbSNP |
11 | g.72230393G>A | CA475865903 | INPPL1 | c.1122G>A (p.Gln374=) c.396G>A (p.Gln132=) c.306G>A (p.Gln102=) c.924G>A (p.Gln308=) c.1188G>A (p.Gln396=) c.1158G>A (p.Gln386=) | |
11 | g.72230393G>C | CA381725163 | INPPL1 | c.1122G>C (p.Gln374His) c.396G>C (p.Gln132His) c.306G>C (p.Gln102His) c.924G>C (p.Gln308His) c.1188G>C (p.Gln396His) c.1158G>C (p.Gln386His) | |
11 | g.72230393G>T | CA381725165 | INPPL1 | c.1122G>T (p.Gln374His) c.396G>T (p.Gln132His) c.306G>T (p.Gln102His) c.924G>T (p.Gln308His) c.1188G>T (p.Gln396His) c.1158G>T (p.Gln386His) | |
11 | g.72230394A= | CA1981898054 | INPPL1 | c.1123A= (p.Asn375=) c.397A= (p.Asn133=) c.307A= (p.Asn103=) c.925A= (p.Asn309=) c.1189A= (p.Asn397=) c.1159A= (p.Asn387=) | |
11 | g.72230394A>C | CA381725166 | INPPL1 | c.1123A>C (p.Asn375His) c.397A>C (p.Asn133His) c.307A>C (p.Asn103His) c.925A>C (p.Asn309His) c.1189A>C (p.Asn397His) c.1159A>C (p.Asn387His) | |
11 | g.72230394A>G | CA381725167 | INPPL1 | c.1123A>G (p.Asn375Asp) c.397A>G (p.Asn133Asp) c.307A>G (p.Asn103Asp) c.925A>G (p.Asn309Asp) c.1189A>G (p.Asn397Asp) c.1159A>G (p.Asn387Asp) | dbSNP |
11 | g.72230394A>T | CA381725169 | INPPL1 | c.1123A>T (p.Asn375Tyr) c.397A>T (p.Asn133Tyr) c.307A>T (p.Asn103Tyr) c.925A>T (p.Asn309Tyr) c.1189A>T (p.Asn397Tyr) c.1159A>T (p.Asn387Tyr) | |
11 | g.72230395A= | CA1981898055 | INPPL1 | c.1124A= (p.Asn375=) c.398A= (p.Asn133=) c.308A= (p.Asn103=) c.926A= (p.Asn309=) c.1190A= (p.Asn397=) c.1160A= (p.Asn387=) | |
11 | g.72230395A>C | CA381725172 | INPPL1 | c.1124A>C (p.Asn375Thr) c.398A>C (p.Asn133Thr) c.308A>C (p.Asn103Thr) c.926A>C (p.Asn309Thr) c.1190A>C (p.Asn397Thr) c.1160A>C (p.Asn387Thr) | |
11 | g.72230395A>G | CA6169918 | INPPL1 | c.1124A>G (p.Asn375Ser) c.398A>G (p.Asn133Ser) c.308A>G (p.Asn103Ser) c.926A>G (p.Asn309Ser) c.1190A>G (p.Asn397Ser) c.1160A>G (p.Asn387Ser) | dbSNP ExAC gnomAD v2 |
11 | g.72230395A>T | CA381725170 | INPPL1 | c.1124A>T (p.Asn375Ile) c.398A>T (p.Asn133Ile) c.308A>T (p.Asn103Ile) c.926A>T (p.Asn309Ile) c.1190A>T (p.Asn397Ile) c.1160A>T (p.Asn387Ile) | |
11 | g.72230396C>A | CA381725173 | INPPL1 | c.1125C>A (p.Asn375Lys) c.399C>A (p.Asn133Lys) c.309C>A (p.Asn103Lys) c.927C>A (p.Asn309Lys) c.1191C>A (p.Asn397Lys) c.1161C>A (p.Asn387Lys) | |
11 | g.72230396C>G | CA381725175 | INPPL1 | c.1125C>G (p.Asn375Lys) c.399C>G (p.Asn133Lys) c.309C>G (p.Asn103Lys) c.927C>G (p.Asn309Lys) c.1191C>G (p.Asn397Lys) c.1161C>G (p.Asn387Lys) | |
11 | g.72230396C>T | CA475865904 | INPPL1 | c.1125C>T (p.Asn375=) c.399C>T (p.Asn133=) c.309C>T (p.Asn103=) c.927C>T (p.Asn309=) c.1191C>T (p.Asn397=) c.1161C>T (p.Asn387=) | |
11 | g.72230397A>C | CA381725177 | INPPL1 | c.1126A>C (p.Lys376Gln) c.400A>C (p.Lys134Gln) c.310A>C (p.Lys104Gln) c.928A>C (p.Lys310Gln) c.1192A>C (p.Lys398Gln) c.1162A>C (p.Lys388Gln) | |
11 | g.72230397A>G | CA381725179 | INPPL1 | c.1126A>G (p.Lys376Glu) c.400A>G (p.Lys134Glu) c.310A>G (p.Lys104Glu) c.928A>G (p.Lys310Glu) c.1192A>G (p.Lys398Glu) c.1162A>G (p.Lys388Glu) | |
11 | g.72230397A>T | CA381725180 | INPPL1 | c.1126A>T (p.Lys376Ter) c.400A>T (p.Lys134Ter) c.310A>T (p.Lys104Ter) c.928A>T (p.Lys310Ter) c.1192A>T (p.Lys398Ter) c.1162A>T (p.Lys388Ter) | |
11 | g.72230398A>C | CA381725183 | INPPL1 | c.1127A>C (p.Lys376Thr) c.401A>C (p.Lys134Thr) c.311A>C (p.Lys104Thr) c.929A>C (p.Lys310Thr) c.1193A>C (p.Lys398Thr) c.1163A>C (p.Lys388Thr) | |
11 | g.72230398A>G | CA381725184 | INPPL1 | c.1127A>G (p.Lys376Arg) c.401A>G (p.Lys134Arg) c.311A>G (p.Lys104Arg) c.929A>G (p.Lys310Arg) c.1193A>G (p.Lys398Arg) c.1163A>G (p.Lys388Arg) | |
11 | g.72230398A>T | CA381725186 | INPPL1 | c.1127A>T (p.Lys376Met) c.401A>T (p.Lys134Met) c.311A>T (p.Lys104Met) c.929A>T (p.Lys310Met) c.1193A>T (p.Lys398Met) c.1163A>T (p.Lys388Met) | |
11 | g.72230399G>A | CA475865905 | INPPL1 | c.1128G>A (p.Lys376=) c.402G>A (p.Lys134=) c.312G>A (p.Lys104=) c.930G>A (p.Lys310=) c.1194G>A (p.Lys398=) c.1164G>A (p.Lys388=) | |
11 | g.72230399G>C | CA381725188 | INPPL1 | c.1128G>C (p.Lys376Asn) c.402G>C (p.Lys134Asn) c.312G>C (p.Lys104Asn) c.930G>C (p.Lys310Asn) c.1194G>C (p.Lys398Asn) c.1164G>C (p.Lys388Asn) | dbSNP gnomAD v4 |
11 | g.72230399G= | CA1981898056 | INPPL1 | c.1128G= (p.Lys376=) c.402G= (p.Lys134=) c.312G= (p.Lys104=) c.930G= (p.Lys310=) c.1194G= (p.Lys398=) c.1164G= (p.Lys388=) | |
11 | g.72230399G>T | CA381725189 | INPPL1 | c.1128G>T (p.Lys376Asn) c.402G>T (p.Lys134Asn) c.312G>T (p.Lys104Asn) c.930G>T (p.Lys310Asn) c.1194G>T (p.Lys398Asn) c.1164G>T (p.Lys388Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230400C>A | CA381725191 | INPPL1 | c.1129C>A (p.Leu377Met) c.403C>A (p.Leu135Met) c.313C>A (p.Leu105Met) c.931C>A (p.Leu311Met) c.1195C>A (p.Leu399Met) c.1165C>A (p.Leu389Met) | |
11 | g.72230400C= | CA1981898057 | INPPL1 | c.1129C= (p.Leu377=) c.403C= (p.Leu135=) c.313C= (p.Leu105=) c.931C= (p.Leu311=) c.1195C= (p.Leu399=) c.1165C= (p.Leu389=) | |
11 | g.72230400C>G | CA381725193 | INPPL1 | c.1129C>G (p.Leu377Val) c.403C>G (p.Leu135Val) c.313C>G (p.Leu105Val) c.931C>G (p.Leu311Val) c.1195C>G (p.Leu399Val) c.1165C>G (p.Leu389Val) | |
11 | g.72230400C>T | CA475865906 | INPPL1 | c.1129C>T (p.Leu377=) c.403C>T (p.Leu135=) c.313C>T (p.Leu105=) c.931C>T (p.Leu311=) c.1195C>T (p.Leu399=) c.1165C>T (p.Leu389=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230401T>A | CA381725197 | INPPL1 | c.1130T>A (p.Leu377Gln) c.404T>A (p.Leu135Gln) c.314T>A (p.Leu105Gln) c.932T>A (p.Leu311Gln) c.1196T>A (p.Leu399Gln) c.1166T>A (p.Leu389Gln) | |
11 | g.72230401T>C | CA381725196 | INPPL1 | c.1130T>C (p.Leu377Pro) c.404T>C (p.Leu135Pro) c.314T>C (p.Leu105Pro) c.932T>C (p.Leu311Pro) c.1196T>C (p.Leu399Pro) c.1166T>C (p.Leu389Pro) | |
11 | g.72230401T>G | CA381725195 | INPPL1 | c.1130T>G (p.Leu377Arg) c.404T>G (p.Leu135Arg) c.314T>G (p.Leu105Arg) c.932T>G (p.Leu311Arg) c.1196T>G (p.Leu399Arg) c.1166T>G (p.Leu389Arg) | |
11 | g.72230402G>A | CA475865907 | INPPL1 | c.1131G>A (p.Leu377=) c.405G>A (p.Leu135=) c.315G>A (p.Leu105=) c.933G>A (p.Leu311=) c.1197G>A (p.Leu399=) c.1167G>A (p.Leu389=) | gnomAD v4 |
11 | g.72230402G>C | CA475865908 | INPPL1 | c.1131G>C (p.Leu377=) c.405G>C (p.Leu135=) c.315G>C (p.Leu105=) c.933G>C (p.Leu311=) c.1197G>C (p.Leu399=) c.1167G>C (p.Leu389=) | |
11 | g.72230402G>T | CA475865909 | INPPL1 | c.1131G>T (p.Leu377=) c.405G>T (p.Leu135=) c.315G>T (p.Leu105=) c.933G>T (p.Leu311=) c.1197G>T (p.Leu399=) c.1167G>T (p.Leu389=) | gnomAD v4 |
11 | g.72230403G>A | CA381725200 | INPPL1 | c.1132G>A (p.Gly378Ser) c.406G>A (p.Gly136Ser) c.316G>A (p.Gly106Ser) c.934G>A (p.Gly312Ser) c.1198G>A (p.Gly400Ser) c.1168G>A (p.Gly390Ser) | gnomAD v4 |
11 | g.72230403G>C | CA381725198 | INPPL1 | c.1132G>C (p.Gly378Arg) c.406G>C (p.Gly136Arg) c.316G>C (p.Gly106Arg) c.934G>C (p.Gly312Arg) c.1198G>C (p.Gly400Arg) c.1168G>C (p.Gly390Arg) | |
11 | g.72230403G>T | CA381725199 | INPPL1 | c.1132G>T (p.Gly378Cys) c.406G>T (p.Gly136Cys) c.316G>T (p.Gly106Cys) c.934G>T (p.Gly312Cys) c.1198G>T (p.Gly400Cys) c.1168G>T (p.Gly390Cys) | |
11 | g.72230404G>A | CA381725203 | INPPL1 | c.1133G>A (p.Gly378Asp) c.407G>A (p.Gly136Asp) c.317G>A (p.Gly106Asp) c.935G>A (p.Gly312Asp) c.1199G>A (p.Gly400Asp) c.1169G>A (p.Gly390Asp) | dbSNP gnomAD v2 COSMIC |
11 | g.72230404G>C | CA381725204 | INPPL1 | c.1133G>C (p.Gly378Ala) c.407G>C (p.Gly136Ala) c.317G>C (p.Gly106Ala) c.935G>C (p.Gly312Ala) c.1199G>C (p.Gly400Ala) c.1169G>C (p.Gly390Ala) | |
11 | g.72230404G= | CA1981898058 | INPPL1 | c.1133G= (p.Gly378=) c.407G= (p.Gly136=) c.317G= (p.Gly106=) c.935G= (p.Gly312=) c.1199G= (p.Gly400=) c.1169G= (p.Gly390=) | |
11 | g.72230404G>T | CA381725206 | INPPL1 | c.1133G>T (p.Gly378Val) c.407G>T (p.Gly136Val) c.317G>T (p.Gly106Val) c.935G>T (p.Gly312Val) c.1199G>T (p.Gly400Val) c.1169G>T (p.Gly390Val) | |
11 | g.72230405T>A | CA475865911 | INPPL1 | c.1134T>A (p.Gly378=) c.408T>A (p.Gly136=) c.318T>A (p.Gly106=) c.936T>A (p.Gly312=) c.1200T>A (p.Gly400=) c.1170T>A (p.Gly390=) | |
11 | g.72230405T>C | CA475865910 | INPPL1 | c.1134T>C (p.Gly378=) c.408T>C (p.Gly136=) c.318T>C (p.Gly106=) c.936T>C (p.Gly312=) c.1200T>C (p.Gly400=) c.1170T>C (p.Gly390=) | |
11 | g.72230405T>G | CA6169919 | INPPL1 | c.1134T>G (p.Gly378=) c.408T>G (p.Gly136=) c.318T>G (p.Gly106=) c.936T>G (p.Gly312=) c.1200T>G (p.Gly400=) c.1170T>G (p.Gly390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230405T= | CA1981898059 | INPPL1 | c.1134T= (p.Gly378=) c.408T= (p.Gly136=) c.318T= (p.Gly106=) c.936T= (p.Gly312=) c.1200T= (p.Gly400=) c.1170T= (p.Gly390=) | |
11 | g.72230406G>A | CA381725209 | INPPL1 | c.1135G>A (p.Val379Ile) c.409G>A (p.Val137Ile) c.319G>A (p.Val107Ile) c.937G>A (p.Val313Ile) c.1201G>A (p.Val401Ile) c.1171G>A (p.Val391Ile) | gnomAD v4 |
11 | g.72230406G>C | CA381725211 | INPPL1 | c.1135G>C (p.Val379Leu) c.409G>C (p.Val137Leu) c.319G>C (p.Val107Leu) c.937G>C (p.Val313Leu) c.1201G>C (p.Val401Leu) c.1171G>C (p.Val391Leu) | |
11 | g.72230406G>T | CA381725213 | INPPL1 | c.1135G>T (p.Val379Phe) c.409G>T (p.Val137Phe) c.319G>T (p.Val107Phe) c.937G>T (p.Val313Phe) c.1201G>T (p.Val401Phe) c.1171G>T (p.Val391Phe) | |
11 | g.72230407T>A | CA381725217 | INPPL1 | c.1136T>A (p.Val379Asp) c.410T>A (p.Val137Asp) c.320T>A (p.Val107Asp) c.938T>A (p.Val313Asp) c.1202T>A (p.Val401Asp) c.1172T>A (p.Val391Asp) | |
11 | g.72230407T>C | CA381725218 | INPPL1 | c.1136T>C (p.Val379Ala) c.410T>C (p.Val137Ala) c.320T>C (p.Val107Ala) c.938T>C (p.Val313Ala) c.1202T>C (p.Val401Ala) c.1172T>C (p.Val391Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230407T>G | CA381725221 | INPPL1 | c.1136T>G (p.Val379Gly) c.410T>G (p.Val137Gly) c.320T>G (p.Val107Gly) c.938T>G (p.Val313Gly) c.1202T>G (p.Val401Gly) c.1172T>G (p.Val391Gly) | |
11 | g.72230407T= | CA1981898060 | INPPL1 | c.1136T= (p.Val379=) c.410T= (p.Val137=) c.320T= (p.Val107=) c.938T= (p.Val313=) c.1202T= (p.Val401=) c.1172T= (p.Val391=) | |
11 | g.72230408T>A | CA475865912 | INPPL1 | c.1137T>A (p.Val379=) c.411T>A (p.Val137=) c.321T>A (p.Val107=) c.939T>A (p.Val313=) c.1203T>A (p.Val401=) c.1173T>A (p.Val391=) | |
11 | g.72230408T>C | CA475865913 | INPPL1 | c.1137T>C (p.Val379=) c.411T>C (p.Val137=) c.321T>C (p.Val107=) c.939T>C (p.Val313=) c.1203T>C (p.Val401=) c.1173T>C (p.Val391=) | |
11 | g.72230408T>G | CA475865914 | INPPL1 | c.1137T>G (p.Val379=) c.411T>G (p.Val137=) c.321T>G (p.Val107=) c.939T>G (p.Val313=) c.1203T>G (p.Val401=) c.1173T>G (p.Val391=) | |
11 | g.72230409G>A | CA6169920 | INPPL1 | c.1138G>A (p.Val380Met) c.412G>A (p.Val138Met) c.322G>A (p.Val108Met) c.940G>A (p.Val314Met) c.1204G>A (p.Val402Met) c.1174G>A (p.Val392Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230409G>C | CA381725227 | INPPL1 | c.1138G>C (p.Val380Leu) c.412G>C (p.Val138Leu) c.322G>C (p.Val108Leu) c.940G>C (p.Val314Leu) c.1204G>C (p.Val402Leu) c.1174G>C (p.Val392Leu) | |
11 | g.72230409G= | CA1981898061 | INPPL1 | c.1138G= (p.Val380=) c.412G= (p.Val138=) c.322G= (p.Val108=) c.940G= (p.Val314=) c.1204G= (p.Val402=) c.1174G= (p.Val392=) | |
11 | g.72230409G>T | CA381725224 | INPPL1 | c.1138G>T (p.Val380Leu) c.412G>T (p.Val138Leu) c.322G>T (p.Val108Leu) c.940G>T (p.Val314Leu) c.1204G>T (p.Val402Leu) c.1174G>T (p.Val392Leu) | |
11 | g.72230410T>A | CA381725231 | INPPL1 | c.1139T>A (p.Val380Glu) c.413T>A (p.Val138Glu) c.323T>A (p.Val108Glu) c.941T>A (p.Val314Glu) c.1205T>A (p.Val402Glu) c.1175T>A (p.Val392Glu) | |
11 | g.72230410T>C | CA381725234 | INPPL1 | c.1139T>C (p.Val380Ala) c.413T>C (p.Val138Ala) c.323T>C (p.Val108Ala) c.941T>C (p.Val314Ala) c.1205T>C (p.Val402Ala) c.1175T>C (p.Val392Ala) | dbSNP gnomAD v4 |
11 | g.72230410T>G | CA381725236 | INPPL1 | c.1139T>G (p.Val380Gly) c.413T>G (p.Val138Gly) c.323T>G (p.Val108Gly) c.941T>G (p.Val314Gly) c.1205T>G (p.Val402Gly) c.1175T>G (p.Val392Gly) | gnomAD v4 |
11 | g.72230410T= | CA1981898062 | INPPL1 | c.1139T= (p.Val380=) c.413T= (p.Val138=) c.323T= (p.Val108=) c.941T= (p.Val314=) c.1205T= (p.Val402=) c.1175T= (p.Val392=) | |
11 | g.72230411G>A | CA475865915 | INPPL1 | c.1140G>A (p.Val380=) c.414G>A (p.Val138=) c.324G>A (p.Val108=) c.942G>A (p.Val314=) c.1206G>A (p.Val402=) c.1176G>A (p.Val392=) | dbSNP |
11 | g.72230411G>C | CA475865917 | INPPL1 | c.1140G>C (p.Val380=) c.414G>C (p.Val138=) c.324G>C (p.Val108=) c.942G>C (p.Val314=) c.1206G>C (p.Val402=) c.1176G>C (p.Val392=) | |
11 | g.72230411G= | CA1981898063 | INPPL1 | c.1140G= (p.Val380=) c.414G= (p.Val138=) c.324G= (p.Val108=) c.942G= (p.Val314=) c.1206G= (p.Val402=) c.1176G= (p.Val392=) | |
11 | g.72230411G>T | CA475865916 | INPPL1 | c.1140G>T (p.Val380=) c.414G>T (p.Val138=) c.324G>T (p.Val108=) c.942G>T (p.Val314=) c.1206G>T (p.Val402=) c.1176G>T (p.Val392=) | |
11 | g.72230412T>A | CA381725238 | INPPL1 | c.1141T>A (p.Phe381Ile) c.415T>A (p.Phe139Ile) c.325T>A (p.Phe109Ile) c.943T>A (p.Phe315Ile) c.1207T>A (p.Phe403Ile) c.1177T>A (p.Phe393Ile) | COSMIC |
11 | g.72230412T>C | CA381725240 | INPPL1 | c.1141T>C (p.Phe381Leu) c.415T>C (p.Phe139Leu) c.325T>C (p.Phe109Leu) c.943T>C (p.Phe315Leu) c.1207T>C (p.Phe403Leu) c.1177T>C (p.Phe393Leu) | dbSNP gnomAD v4 |
11 | g.72230412T>G | CA381725243 | INPPL1 | c.1141T>G (p.Phe381Val) c.415T>G (p.Phe139Val) c.325T>G (p.Phe109Val) c.943T>G (p.Phe315Val) c.1207T>G (p.Phe403Val) c.1177T>G (p.Phe393Val) | |
11 | g.72230412T= | CA1981898064 | INPPL1 | c.1141T= (p.Phe381=) c.415T= (p.Phe139=) c.325T= (p.Phe109=) c.943T= (p.Phe315=) c.1207T= (p.Phe403=) c.1177T= (p.Phe393=) | |
11 | g.72230413T>A | CA381725245 | INPPL1 | c.1142T>A (p.Phe381Tyr) c.416T>A (p.Phe139Tyr) c.326T>A (p.Phe109Tyr) c.944T>A (p.Phe315Tyr) c.1208T>A (p.Phe403Tyr) c.1178T>A (p.Phe393Tyr) | |
11 | g.72230413T>C | CA381725249 | INPPL1 | c.1142T>C (p.Phe381Ser) c.416T>C (p.Phe139Ser) c.326T>C (p.Phe109Ser) c.944T>C (p.Phe315Ser) c.1208T>C (p.Phe403Ser) c.1178T>C (p.Phe393Ser) | gnomAD v4 |
11 | g.72230413T>G | CA381725248 | INPPL1 | c.1142T>G (p.Phe381Cys) c.416T>G (p.Phe139Cys) c.326T>G (p.Phe109Cys) c.944T>G (p.Phe315Cys) c.1208T>G (p.Phe403Cys) c.1178T>G (p.Phe393Cys) | |
11 | g.72230414T>A | CA381725253 | INPPL1 | c.1143T>A (p.Phe381Leu) c.417T>A (p.Phe139Leu) c.327T>A (p.Phe109Leu) c.945T>A (p.Phe315Leu) c.1209T>A (p.Phe403Leu) c.1179T>A (p.Phe393Leu) | |
11 | g.72230414T>C | CA475865918 | INPPL1 | c.1143T>C (p.Phe381=) c.417T>C (p.Phe139=) c.327T>C (p.Phe109=) c.945T>C (p.Phe315=) c.1209T>C (p.Phe403=) c.1179T>C (p.Phe393=) | |
11 | g.72230414T>G | CA381725255 | INPPL1 | c.1143T>G (p.Phe381Leu) c.417T>G (p.Phe139Leu) c.327T>G (p.Phe109Leu) c.945T>G (p.Phe315Leu) c.1209T>G (p.Phe403Leu) c.1179T>G (p.Phe393Leu) | gnomAD v4 |
11 | g.72230415G>A | CA381725258 | INPPL1 | c.1144G>A (p.Glu382Lys) c.418G>A (p.Glu140Lys) c.328G>A (p.Glu110Lys) c.946G>A (p.Glu316Lys) c.1210G>A (p.Glu404Lys) c.1180G>A (p.Glu394Lys) | |
11 | g.72230415G>C | CA381725260 | INPPL1 | c.1144G>C (p.Glu382Gln) c.418G>C (p.Glu140Gln) c.328G>C (p.Glu110Gln) c.946G>C (p.Glu316Gln) c.1210G>C (p.Glu404Gln) c.1180G>C (p.Glu394Gln) | |
11 | g.72230415G>T | CA381725261 | INPPL1 | c.1144G>T (p.Glu382Ter) c.418G>T (p.Glu140Ter) c.328G>T (p.Glu110Ter) c.946G>T (p.Glu316Ter) c.1210G>T (p.Glu404Ter) c.1180G>T (p.Glu394Ter) | |
11 | g.72230416A>C | CA381725263 | INPPL1 | c.1145A>C (p.Glu382Ala) c.419A>C (p.Glu140Ala) c.329A>C (p.Glu110Ala) c.947A>C (p.Glu316Ala) c.1211A>C (p.Glu404Ala) c.1181A>C (p.Glu394Ala) | |
11 | g.72230416A>G | CA381725264 | INPPL1 | c.1145A>G (p.Glu382Gly) c.419A>G (p.Glu140Gly) c.329A>G (p.Glu110Gly) c.947A>G (p.Glu316Gly) c.1211A>G (p.Glu404Gly) c.1181A>G (p.Glu394Gly) | |
11 | g.72230416A>T | CA381725262 | INPPL1 | c.1145A>T (p.Glu382Val) c.419A>T (p.Glu140Val) c.329A>T (p.Glu110Val) c.947A>T (p.Glu316Val) c.1211A>T (p.Glu404Val) c.1181A>T (p.Glu394Val) | |
11 | g.72230417G>A | CA475865919 | INPPL1 | c.1146G>A (p.Glu382=) c.420G>A (p.Glu140=) c.330G>A (p.Glu110=) c.948G>A (p.Glu316=) c.1212G>A (p.Glu404=) c.1182G>A (p.Glu394=) | |
11 | g.72230417G>C | CA381725266 | INPPL1 | c.1146G>C (p.Glu382Asp) c.420G>C (p.Glu140Asp) c.330G>C (p.Glu110Asp) c.948G>C (p.Glu316Asp) c.1212G>C (p.Glu404Asp) c.1182G>C (p.Glu394Asp) | |
11 | g.72230417G>T | CA381725268 | INPPL1 | c.1146G>T (p.Glu382Asp) c.420G>T (p.Glu140Asp) c.330G>T (p.Glu110Asp) c.948G>T (p.Glu316Asp) c.1212G>T (p.Glu404Asp) c.1182G>T (p.Glu394Asp) | |
11 | g.72230418A= | CA1981898066 | INPPL1 | c.1147A= (p.Lys383=) c.421A= (p.Lys141=) c.331A= (p.Lys111=) c.949A= (p.Lys317=) c.1213A= (p.Lys405=) c.1183A= (p.Lys395=) | |
11 | g.72230418A>C | CA381725270 | INPPL1 | c.1147A>C (p.Lys383Gln) c.421A>C (p.Lys141Gln) c.331A>C (p.Lys111Gln) c.949A>C (p.Lys317Gln) c.1213A>C (p.Lys405Gln) c.1183A>C (p.Lys395Gln) | |
11 | g.72230418A>G | CA381725273 | INPPL1 | c.1147A>G (p.Lys383Glu) c.421A>G (p.Lys141Glu) c.331A>G (p.Lys111Glu) c.949A>G (p.Lys317Glu) c.1213A>G (p.Lys405Glu) c.1183A>G (p.Lys395Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230418A>T | CA381725282 | INPPL1 | c.1147A>T (p.Lys383Ter) c.421A>T (p.Lys141Ter) c.331A>T (p.Lys111Ter) c.949A>T (p.Lys317Ter) c.1213A>T (p.Lys405Ter) c.1183A>T (p.Lys395Ter) | |
11 | g.72230418_72230421delinsAAGG | CA1981898065 | INPPL1 | c.1147_1150delinsAAGG (p.Lys383=) c.421_424delinsAAGG (p.Lys141=) c.331_334delinsAAGG (p.Lys111=) c.949_952delinsAAGG (p.Lys317=) c.1213_1216delinsAAGG (p.Lys405=) c.1183_1186delinsAAGG (p.Lys395=) | |
11 | g.72230419A>C | CA381725285 | INPPL1 | c.1148A>C (p.Lys383Thr) c.422A>C (p.Lys141Thr) c.332A>C (p.Lys111Thr) c.950A>C (p.Lys317Thr) c.1214A>C (p.Lys405Thr) c.1184A>C (p.Lys395Thr) | |
11 | g.72230419A>G | CA381725288 | INPPL1 | c.1148A>G (p.Lys383Arg) c.422A>G (p.Lys141Arg) c.332A>G (p.Lys111Arg) c.950A>G (p.Lys317Arg) c.1214A>G (p.Lys405Arg) c.1184A>G (p.Lys395Arg) | |
11 | g.72230419A>T | CA381725290 | INPPL1 | c.1148A>T (p.Lys383Met) c.422A>T (p.Lys141Met) c.332A>T (p.Lys111Met) c.950A>T (p.Lys317Met) c.1214A>T (p.Lys405Met) c.1184A>T (p.Lys395Met) | |
11 | g.72230419_72230420delinsAG | CA1981898067 | INPPL1 | c.1148_1149delinsAG (p.Lys383=) c.422_423delinsAG (p.Lys141=) c.332_333delinsAG (p.Lys111=) c.950_951delinsAG (p.Lys317=) c.1214_1215delinsAG (p.Lys405=) c.1184_1185delinsAG (p.Lys395=) | |
11 | g.72230421_72230423del | CA600243022 | INPPL1 | c.1150_1152del (p.Glu384del) c.424_426del (p.Glu142del) c.334_336del (p.Glu112del) c.952_954del (p.Glu318del) c.1216_1218del (p.Glu406del) c.1186_1188del (p.Glu396del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230420G>A | CA475865920 | INPPL1 | c.1149G>A (p.Lys383=) c.423G>A (p.Lys141=) c.333G>A (p.Lys111=) c.951G>A (p.Lys317=) c.1215G>A (p.Lys405=) c.1185G>A (p.Lys395=) | COSMIC |
11 | g.72230420G>C | CA381725293 | INPPL1 | c.1149G>C (p.Lys383Asn) c.423G>C (p.Lys141Asn) c.333G>C (p.Lys111Asn) c.951G>C (p.Lys317Asn) c.1215G>C (p.Lys405Asn) c.1185G>C (p.Lys395Asn) | |
11 | g.72230420G>T | CA381725295 | INPPL1 | c.1149G>T (p.Lys383Asn) c.423G>T (p.Lys141Asn) c.333G>T (p.Lys111Asn) c.951G>T (p.Lys317Asn) c.1215G>T (p.Lys405Asn) c.1185G>T (p.Lys395Asn) | |
11 | g.72230421del | CA679976948 | INPPL1 | c.1150del (p.Glu384ArgfsTer28) c.424del (p.Glu142ArgfsTer28) c.334del (p.Glu112ArgfsTer?) c.952del (p.Glu318ArgfsTer28) c.1216del (p.Glu406ArgfsTer28) c.1186del (p.Glu396ArgfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230421G>A | CA381725298 | INPPL1 | c.1150G>A (p.Glu384Lys) c.424G>A (p.Glu142Lys) c.334G>A (p.Glu112Lys) c.952G>A (p.Glu318Lys) c.1216G>A (p.Glu406Lys) c.1186G>A (p.Glu396Lys) | |
11 | g.72230421G>C | CA381725299 | INPPL1 | c.1150G>C (p.Glu384Gln) c.424G>C (p.Glu142Gln) c.334G>C (p.Glu112Gln) c.952G>C (p.Glu318Gln) c.1216G>C (p.Glu406Gln) c.1186G>C (p.Glu396Gln) | |
11 | g.72230421G>T | CA381725301 | INPPL1 | c.1150G>T (p.Glu384Ter) c.424G>T (p.Glu142Ter) c.334G>T (p.Glu112Ter) c.952G>T (p.Glu318Ter) c.1216G>T (p.Glu406Ter) c.1186G>T (p.Glu396Ter) | |
11 | g.72230421_72230424delinsGAGA | CA1981898068 | INPPL1 | c.1150_1153delinsGAGA (p.Glu384=) c.424_427delinsGAGA (p.Glu142=) c.334_337delinsGAGA (p.Glu112=) c.952_955delinsGAGA (p.Glu318=) c.1216_1219delinsGAGA (p.Glu406=) c.1186_1189delinsGAGA (p.Glu396=) | |
11 | g.72230423_72230424del | CA2695214981 | INPPL1 | c.1152_1153del (p.Lys385GlyfsTer?) c.426_427del (p.Lys143GlyfsTer?) c.336_337del (p.Lys113GlyfsTer?) c.954_955del (p.Lys319GlyfsTer?) c.1218_1219del (p.Lys407GlyfsTer?) c.1188_1189del (p.Lys397GlyfsTer?) | |
11 | g.72230422A>C | CA381725307 | INPPL1 | c.1151A>C (p.Glu384Ala) c.425A>C (p.Glu142Ala) c.335A>C (p.Glu112Ala) c.953A>C (p.Glu318Ala) c.1217A>C (p.Glu406Ala) c.1187A>C (p.Glu396Ala) | |
11 | g.72230422A>G | CA381725305 | INPPL1 | c.1151A>G (p.Glu384Gly) c.425A>G (p.Glu142Gly) c.335A>G (p.Glu112Gly) c.953A>G (p.Glu318Gly) c.1217A>G (p.Glu406Gly) c.1187A>G (p.Glu396Gly) | |
11 | g.72230422A>T | CA381725303 | INPPL1 | c.1151A>T (p.Glu384Val) c.425A>T (p.Glu142Val) c.335A>T (p.Glu112Val) c.953A>T (p.Glu318Val) c.1217A>T (p.Glu406Val) c.1187A>T (p.Glu396Val) | |
11 | g.72230424_72230426del | CA600243023 | INPPL1 | c.1153_1155del (p.Lys385del) c.427_429del (p.Lys143del) c.337_339del (p.Lys113del) c.955_957del (p.Lys319del) c.1219_1221del (p.Lys407del) c.1189_1191del (p.Lys397del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230423G>A | CA475865921 | INPPL1 | c.1152G>A (p.Glu384=) c.426G>A (p.Glu142=) c.336G>A (p.Glu112=) c.954G>A (p.Glu318=) c.1218G>A (p.Glu406=) c.1188G>A (p.Glu396=) | gnomAD v4 |
11 | g.72230423G>C | CA381725309 | INPPL1 | c.1152G>C (p.Glu384Asp) c.426G>C (p.Glu142Asp) c.336G>C (p.Glu112Asp) c.954G>C (p.Glu318Asp) c.1218G>C (p.Glu406Asp) c.1188G>C (p.Glu396Asp) | |
11 | g.72230423G>T | CA381725310 | INPPL1 | c.1152G>T (p.Glu384Asp) c.426G>T (p.Glu142Asp) c.336G>T (p.Glu112Asp) c.954G>T (p.Glu318Asp) c.1218G>T (p.Glu406Asp) c.1188G>T (p.Glu396Asp) | |
11 | g.72230423_72230424delinsGA | CA1981898069 | INPPL1 | c.1152_1153delinsGA (p.Glu384=) c.426_427delinsGA (p.Glu142=) c.336_337delinsGA (p.Glu112=) c.954_955delinsGA (p.Glu318=) c.1218_1219delinsGA (p.Glu406=) c.1188_1189delinsGA (p.Glu396=) | |
11 | g.72230424A= | CA1981898070 | INPPL1 | c.1153A= (p.Lys385=) c.427A= (p.Lys143=) c.337A= (p.Lys113=) c.955A= (p.Lys319=) c.1219A= (p.Lys407=) c.1189A= (p.Lys397=) | |
11 | g.72230424A>C | CA381725311 | INPPL1 | c.1153A>C (p.Lys385Gln) c.427A>C (p.Lys143Gln) c.337A>C (p.Lys113Gln) c.955A>C (p.Lys319Gln) c.1219A>C (p.Lys407Gln) c.1189A>C (p.Lys397Gln) | |
11 | g.72230424A>G | CA381725312 | INPPL1 | c.1153A>G (p.Lys385Glu) c.427A>G (p.Lys143Glu) c.337A>G (p.Lys113Glu) c.955A>G (p.Lys319Glu) c.1219A>G (p.Lys407Glu) c.1189A>G (p.Lys397Glu) | dbSNP |
11 | g.72230424A>T | CA381725313 | INPPL1 | c.1153A>T (p.Lys385Ter) c.427A>T (p.Lys143Ter) c.337A>T (p.Lys113Ter) c.955A>T (p.Lys319Ter) c.1219A>T (p.Lys407Ter) c.1189A>T (p.Lys397Ter) | |
11 | g.72230425del | CA939440601 | INPPL1 | c.1154del (p.Lys385ArgfsTer27) c.428del (p.Lys143ArgfsTer27) c.338del (p.Lys113ArgfsTer?) c.956del (p.Lys319ArgfsTer27) c.1220del (p.Lys407ArgfsTer27) c.1190del (p.Lys397ArgfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230425A>C | CA381725314 | INPPL1 | c.1154A>C (p.Lys385Thr) c.428A>C (p.Lys143Thr) c.338A>C (p.Lys113Thr) c.956A>C (p.Lys319Thr) c.1220A>C (p.Lys407Thr) c.1190A>C (p.Lys397Thr) | |
11 | g.72230425A>G | CA381725315 | INPPL1 | c.1154A>G (p.Lys385Arg) c.428A>G (p.Lys143Arg) c.338A>G (p.Lys113Arg) c.956A>G (p.Lys319Arg) c.1220A>G (p.Lys407Arg) c.1190A>G (p.Lys397Arg) | |
11 | g.72230425A>T | CA381725317 | INPPL1 | c.1154A>T (p.Lys385Met) c.428A>T (p.Lys143Met) c.338A>T (p.Lys113Met) c.956A>T (p.Lys319Met) c.1220A>T (p.Lys407Met) c.1190A>T (p.Lys397Met) | |
11 | g.72230426G>A | CA475865922 | INPPL1 | c.1155G>A (p.Lys385=) c.429G>A (p.Lys143=) c.339G>A (p.Lys113=) c.957G>A (p.Lys319=) c.1221G>A (p.Lys407=) c.1191G>A (p.Lys397=) | |
11 | g.72230426G>C | CA381725319 | INPPL1 | c.1155G>C (p.Lys385Asn) c.429G>C (p.Lys143Asn) c.339G>C (p.Lys113Asn) c.957G>C (p.Lys319Asn) c.1221G>C (p.Lys407Asn) c.1191G>C (p.Lys397Asn) | |
11 | g.72230426G>T | CA381725321 | INPPL1 | c.1155G>T (p.Lys385Asn) c.429G>T (p.Lys143Asn) c.339G>T (p.Lys113Asn) c.957G>T (p.Lys319Asn) c.1221G>T (p.Lys407Asn) c.1191G>T (p.Lys397Asn) | |
11 | g.72230427G>A | CA381725322 | INPPL1 | c.1156G>A (p.Asp386Asn) c.430G>A (p.Asp144Asn) c.340G>A (p.Asp114Asn) c.958G>A (p.Asp320Asn) c.1222G>A (p.Asp408Asn) c.1192G>A (p.Asp398Asn) | |
11 | g.72230427G>C | CA381725324 | INPPL1 | c.1156G>C (p.Asp386His) c.430G>C (p.Asp144His) c.340G>C (p.Asp114His) c.958G>C (p.Asp320His) c.1222G>C (p.Asp408His) c.1192G>C (p.Asp398His) | |
11 | g.72230427G>T | CA381725326 | INPPL1 | c.1156G>T (p.Asp386Tyr) c.430G>T (p.Asp144Tyr) c.340G>T (p.Asp114Tyr) c.958G>T (p.Asp320Tyr) c.1222G>T (p.Asp408Tyr) c.1192G>T (p.Asp398Tyr) | |
11 | g.72230428A>C | CA381725330 | INPPL1 | c.1157A>C (p.Asp386Ala) c.431A>C (p.Asp144Ala) c.341A>C (p.Asp114Ala) c.959A>C (p.Asp320Ala) c.1223A>C (p.Asp408Ala) c.1193A>C (p.Asp398Ala) | |
11 | g.72230428A>G | CA381725332 | INPPL1 | c.1157A>G (p.Asp386Gly) c.431A>G (p.Asp144Gly) c.341A>G (p.Asp114Gly) c.959A>G (p.Asp320Gly) c.1223A>G (p.Asp408Gly) c.1193A>G (p.Asp398Gly) | |
11 | g.72230428A>T | CA381725329 | INPPL1 | c.1157A>T (p.Asp386Val) c.431A>T (p.Asp144Val) c.341A>T (p.Asp114Val) c.959A>T (p.Asp320Val) c.1223A>T (p.Asp408Val) c.1193A>T (p.Asp398Val) | |
11 | g.72230429C>A | CA381725343 | INPPL1 | c.1158C>A (p.Asp386Glu) c.432C>A (p.Asp144Glu) c.342C>A (p.Asp114Glu) c.960C>A (p.Asp320Glu) c.1224C>A (p.Asp408Glu) c.1194C>A (p.Asp398Glu) | |
11 | g.72230429C>G | CA381725344 | INPPL1 | c.1158C>G (p.Asp386Glu) c.432C>G (p.Asp144Glu) c.342C>G (p.Asp114Glu) c.960C>G (p.Asp320Glu) c.1224C>G (p.Asp408Glu) c.1194C>G (p.Asp398Glu) | |
11 | g.72230429C>T | CA475865923 | INPPL1 | c.1158C>T (p.Asp386=) c.432C>T (p.Asp144=) c.342C>T (p.Asp114=) c.960C>T (p.Asp320=) c.1224C>T (p.Asp408=) c.1194C>T (p.Asp398=) | |
11 | g.72230430C>A | CA475865924 | INPPL1 | c.1159C>A (p.Arg387=) c.433C>A (p.Arg145=) c.343C>A (p.Arg115=) c.961C>A (p.Arg321=) c.1225C>A (p.Arg409=) c.1195C>A (p.Arg399=) | |
11 | g.72230430C= | CA1981898071 | INPPL1 | c.1159C= (p.Arg387=) c.433C= (p.Arg145=) c.343C= (p.Arg115=) c.961C= (p.Arg321=) c.1225C= (p.Arg409=) c.1195C= (p.Arg399=) | |
11 | g.72230430C>G | CA381725346 | INPPL1 | c.1159C>G (p.Arg387Gly) c.433C>G (p.Arg145Gly) c.343C>G (p.Arg115Gly) c.961C>G (p.Arg321Gly) c.1225C>G (p.Arg409Gly) c.1195C>G (p.Arg399Gly) | |
11 | g.72230430C>T | CA6169921 | INPPL1 | c.1159C>T (p.Arg387Trp) c.433C>T (p.Arg145Trp) c.343C>T (p.Arg115Trp) c.961C>T (p.Arg321Trp) c.1225C>T (p.Arg409Trp) c.1195C>T (p.Arg399Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230431G>A | CA6169922 | INPPL1 | c.1160G>A (p.Arg387Gln) c.434G>A (p.Arg145Gln) c.344G>A (p.Arg115Gln) c.962G>A (p.Arg321Gln) c.1226G>A (p.Arg409Gln) c.1196G>A (p.Arg399Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230431G>C | CA381725357 | INPPL1 | c.1160G>C (p.Arg387Pro) c.434G>C (p.Arg145Pro) c.344G>C (p.Arg115Pro) c.962G>C (p.Arg321Pro) c.1226G>C (p.Arg409Pro) c.1196G>C (p.Arg399Pro) | |
11 | g.72230431G= | CA1981898072 | INPPL1 | c.1160G= (p.Arg387=) c.434G= (p.Arg145=) c.344G= (p.Arg115=) c.962G= (p.Arg321=) c.1226G= (p.Arg409=) c.1196G= (p.Arg399=) | |
11 | g.72230431G>T | CA381725358 | INPPL1 | c.1160G>T (p.Arg387Leu) c.434G>T (p.Arg145Leu) c.344G>T (p.Arg115Leu) c.962G>T (p.Arg321Leu) c.1226G>T (p.Arg409Leu) c.1196G>T (p.Arg399Leu) | |
11 | g.72230432G>A | CA475865925 | INPPL1 | c.1161G>A (p.Arg387=) c.435G>A (p.Arg145=) c.345G>A (p.Arg115=) c.963G>A (p.Arg321=) c.1227G>A (p.Arg409=) c.1197G>A (p.Arg399=) | |
11 | g.72230432G>C | CA475865926 | INPPL1 | c.1161G>C (p.Arg387=) c.435G>C (p.Arg145=) c.345G>C (p.Arg115=) c.963G>C (p.Arg321=) c.1227G>C (p.Arg409=) c.1197G>C (p.Arg399=) | |
11 | g.72230432G>T | CA475865927 | INPPL1 | c.1161G>T (p.Arg387=) c.435G>T (p.Arg145=) c.345G>T (p.Arg115=) c.963G>T (p.Arg321=) c.1227G>T (p.Arg409=) c.1197G>T (p.Arg399=) | |
11 | g.72230433A>C | CA381725361 | INPPL1 | c.1162A>C (p.Thr388Pro) c.436A>C (p.Thr146Pro) c.346A>C (p.Thr116Pro) c.964A>C (p.Thr322Pro) c.1228A>C (p.Thr410Pro) c.1198A>C (p.Thr400Pro) | |
11 | g.72230433A>G | CA381725364 | INPPL1 | c.1162A>G (p.Thr388Ala) c.436A>G (p.Thr146Ala) c.346A>G (p.Thr116Ala) c.964A>G (p.Thr322Ala) c.1228A>G (p.Thr410Ala) c.1198A>G (p.Thr400Ala) | |
11 | g.72230433A>T | CA381725365 | INPPL1 | c.1162A>T (p.Thr388Ser) c.436A>T (p.Thr146Ser) c.346A>T (p.Thr116Ser) c.964A>T (p.Thr322Ser) c.1228A>T (p.Thr410Ser) c.1198A>T (p.Thr400Ser) | gnomAD v4 |
11 | g.72230434C>A | CA381725376 | INPPL1 | c.1163C>A (p.Thr388Asn) c.437C>A (p.Thr146Asn) c.347C>A (p.Thr116Asn) c.965C>A (p.Thr322Asn) c.1229C>A (p.Thr410Asn) c.1199C>A (p.Thr400Asn) | |
11 | g.72230434C>G | CA381725378 | INPPL1 | c.1163C>G (p.Thr388Ser) c.437C>G (p.Thr146Ser) c.347C>G (p.Thr116Ser) c.965C>G (p.Thr322Ser) c.1229C>G (p.Thr410Ser) c.1199C>G (p.Thr400Ser) | |
11 | g.72230434C>T | CA381725382 | INPPL1 | c.1163C>T (p.Thr388Ile) c.437C>T (p.Thr146Ile) c.347C>T (p.Thr116Ile) c.965C>T (p.Thr322Ile) c.1229C>T (p.Thr410Ile) c.1199C>T (p.Thr400Ile) | |
11 | g.72230435T>A | CA475865928 | INPPL1 | c.1164T>A (p.Thr388=) c.438T>A (p.Thr146=) c.348T>A (p.Thr116=) c.966T>A (p.Thr322=) c.1230T>A (p.Thr410=) c.1200T>A (p.Thr400=) | |
11 | g.72230435T>C | CA475865929 | INPPL1 | c.1164T>C (p.Thr388=) c.438T>C (p.Thr146=) c.348T>C (p.Thr116=) c.966T>C (p.Thr322=) c.1230T>C (p.Thr410=) c.1200T>C (p.Thr400=) | dbSNP |
11 | g.72230435T>G | CA475865930 | INPPL1 | c.1164T>G (p.Thr388=) c.438T>G (p.Thr146=) c.348T>G (p.Thr116=) c.966T>G (p.Thr322=) c.1230T>G (p.Thr410=) c.1200T>G (p.Thr400=) | |
11 | g.72230435T= | CA1981898073 | INPPL1 | c.1164T= (p.Thr388=) c.438T= (p.Thr146=) c.348T= (p.Thr116=) c.966T= (p.Thr322=) c.1230T= (p.Thr410=) c.1200T= (p.Thr400=) | |
11 | g.72230436C>A | CA381725384 | INPPL1 | c.1165C>A (p.Gln389Lys) c.439C>A (p.Gln147Lys) c.349C>A (p.Gln117Lys) c.967C>A (p.Gln323Lys) c.1231C>A (p.Gln411Lys) c.1201C>A (p.Gln401Lys) | |
11 | g.72230436C>G | CA381725389 | INPPL1 | c.1165C>G (p.Gln389Glu) c.439C>G (p.Gln147Glu) c.349C>G (p.Gln117Glu) c.967C>G (p.Gln323Glu) c.1231C>G (p.Gln411Glu) c.1201C>G (p.Gln401Glu) | |
11 | g.72230436C>T | CA381725386 | INPPL1 | c.1165C>T (p.Gln389Ter) c.439C>T (p.Gln147Ter) c.349C>T (p.Gln117Ter) c.967C>T (p.Gln323Ter) c.1231C>T (p.Gln411Ter) c.1201C>T (p.Gln401Ter) | gnomAD v4 |
11 | g.72230437A>C | CA381725391 | INPPL1 | c.1166A>C (p.Gln389Pro) c.440A>C (p.Gln147Pro) c.350A>C (p.Gln117Pro) c.968A>C (p.Gln323Pro) c.1232A>C (p.Gln411Pro) c.1202A>C (p.Gln401Pro) | |
11 | g.72230437A>G | CA381725392 | INPPL1 | c.1166A>G (p.Gln389Arg) c.440A>G (p.Gln147Arg) c.350A>G (p.Gln117Arg) c.968A>G (p.Gln323Arg) c.1232A>G (p.Gln411Arg) c.1202A>G (p.Gln401Arg) | |
11 | g.72230437A>T | CA381725395 | INPPL1 | c.1166A>T (p.Gln389Leu) c.440A>T (p.Gln147Leu) c.350A>T (p.Gln117Leu) c.968A>T (p.Gln323Leu) c.1232A>T (p.Gln411Leu) c.1202A>T (p.Gln401Leu) | |
11 | g.72230438G>A | CA475865931 | INPPL1 | c.1167G>A (p.Gln389=) c.441G>A (p.Gln147=) c.351G>A (p.Gln117=) c.969G>A (p.Gln323=) c.1233G>A (p.Gln411=) c.1203G>A (p.Gln401=) | |
11 | g.72230438G>C | CA381725397 | INPPL1 | c.1167G>C (p.Gln389His) c.441G>C (p.Gln147His) c.351G>C (p.Gln117His) c.969G>C (p.Gln323His) c.1233G>C (p.Gln411His) c.1203G>C (p.Gln401His) | |
11 | g.72230438G>T | CA381725399 | INPPL1 | c.1167G>T (p.Gln389His) c.441G>T (p.Gln147His) c.351G>T (p.Gln117His) c.969G>T (p.Gln323His) c.1233G>T (p.Gln411His) c.1203G>T (p.Gln401His) | |
11 | g.72230439C>A | CA381725400 | INPPL1 | c.1168C>A (p.Arg390Ser) c.442C>A (p.Arg148Ser) c.352C>A (p.Arg118Ser) c.970C>A (p.Arg324Ser) c.1234C>A (p.Arg412Ser) c.1204C>A (p.Arg402Ser) | |
11 | g.72230439C= | CA1981898074 | INPPL1 | c.1168C= (p.Arg390=) c.442C= (p.Arg148=) c.352C= (p.Arg118=) c.970C= (p.Arg324=) c.1234C= (p.Arg412=) c.1204C= (p.Arg402=) | |
11 | g.72230439C>G | CA381725402 | INPPL1 | c.1168C>G (p.Arg390Gly) c.442C>G (p.Arg148Gly) c.352C>G (p.Arg118Gly) c.970C>G (p.Arg324Gly) c.1234C>G (p.Arg412Gly) c.1204C>G (p.Arg402Gly) | gnomAD v4 |
11 | g.72230439C>T | CA6169923 | INPPL1 | c.1168C>T (p.Arg390Cys) c.442C>T (p.Arg148Cys) c.352C>T (p.Arg118Cys) c.970C>T (p.Arg324Cys) c.1234C>T (p.Arg412Cys) c.1204C>T (p.Arg402Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230440G>A | CA6169924 | INPPL1 | c.1169G>A (p.Arg390His) c.443G>A (p.Arg148His) c.353G>A (p.Arg118His) c.971G>A (p.Arg324His) c.1235G>A (p.Arg412His) c.1205G>A (p.Arg402His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230440G>C | CA381725406 | INPPL1 | c.1169G>C (p.Arg390Pro) c.443G>C (p.Arg148Pro) c.353G>C (p.Arg118Pro) c.971G>C (p.Arg324Pro) c.1235G>C (p.Arg412Pro) c.1205G>C (p.Arg402Pro) | dbSNP gnomAD v4 |
11 | g.72230440G= | CA1981898075 | INPPL1 | c.1169G= (p.Arg390=) c.443G= (p.Arg148=) c.353G= (p.Arg118=) c.971G= (p.Arg324=) c.1235G= (p.Arg412=) c.1205G= (p.Arg402=) | |
11 | g.72230440G>T | CA381725409 | INPPL1 | c.1169G>T (p.Arg390Leu) c.443G>T (p.Arg148Leu) c.353G>T (p.Arg118Leu) c.971G>T (p.Arg324Leu) c.1235G>T (p.Arg412Leu) c.1205G>T (p.Arg402Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230441C>A | CA475865932 | INPPL1 | c.1170C>A (p.Arg390=) c.444C>A (p.Arg148=) c.354C>A (p.Arg118=) c.972C>A (p.Arg324=) c.1236C>A (p.Arg412=) c.1206C>A (p.Arg402=) | |
11 | g.72230441C>G | CA475865933 | INPPL1 | c.1170C>G (p.Arg390=) c.444C>G (p.Arg148=) c.354C>G (p.Arg118=) c.972C>G (p.Arg324=) c.1236C>G (p.Arg412=) c.1206C>G (p.Arg402=) | |
11 | g.72230441C>T | CA475865934 | INPPL1 | c.1170C>T (p.Arg390=) c.444C>T (p.Arg148=) c.354C>T (p.Arg118=) c.972C>T (p.Arg324=) c.1236C>T (p.Arg412=) c.1206C>T (p.Arg402=) | gnomAD v4 |
11 | g.72230442A>C | CA381725414 | INPPL1 | c.1171A>C (p.Lys391Gln) c.445A>C (p.Lys149Gln) c.355A>C (p.Lys119Gln) c.973A>C (p.Lys325Gln) c.1237A>C (p.Lys413Gln) c.1207A>C (p.Lys403Gln) | |
11 | g.72230442A>G | CA381725416 | INPPL1 | c.1171A>G (p.Lys391Glu) c.445A>G (p.Lys149Glu) c.355A>G (p.Lys119Glu) c.973A>G (p.Lys325Glu) c.1237A>G (p.Lys413Glu) c.1207A>G (p.Lys403Glu) | gnomAD v4 |
11 | g.72230442A>T | CA381725411 | INPPL1 | c.1171A>T (p.Lys391Ter) c.445A>T (p.Lys149Ter) c.355A>T (p.Lys119Ter) c.973A>T (p.Lys325Ter) c.1237A>T (p.Lys413Ter) c.1207A>T (p.Lys403Ter) | |
11 | g.72230443A>C | CA381725420 | INPPL1 | c.1172A>C (p.Lys391Thr) c.446A>C (p.Lys149Thr) c.356A>C (p.Lys119Thr) c.974A>C (p.Lys325Thr) c.1238A>C (p.Lys413Thr) c.1208A>C (p.Lys403Thr) | gnomAD v4 |
11 | g.72230443A>G | CA381725418 | INPPL1 | c.1172A>G (p.Lys391Arg) c.446A>G (p.Lys149Arg) c.356A>G (p.Lys119Arg) c.974A>G (p.Lys325Arg) c.1238A>G (p.Lys413Arg) c.1208A>G (p.Lys403Arg) | |
11 | g.72230443A>T | CA381725421 | INPPL1 | c.1172A>T (p.Lys391Met) c.446A>T (p.Lys149Met) c.356A>T (p.Lys119Met) c.974A>T (p.Lys325Met) c.1238A>T (p.Lys413Met) c.1208A>T (p.Lys403Met) | |
11 | g.72230444G>A | CA224376038 | INPPL1 | c.1173G>A (p.Lys391=) c.447G>A (p.Lys149=) c.357G>A (p.Lys119=) c.975G>A (p.Lys325=) c.1239G>A (p.Lys413=) c.1209G>A (p.Lys403=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230444G>C | CA381725423 | INPPL1 | c.1173G>C (p.Lys391Asn) c.447G>C (p.Lys149Asn) c.357G>C (p.Lys119Asn) c.975G>C (p.Lys325Asn) c.1239G>C (p.Lys413Asn) c.1209G>C (p.Lys403Asn) | |
11 | g.72230444G= | CA1981898076 | INPPL1 | c.1173G= (p.Lys391=) c.447G= (p.Lys149=) c.357G= (p.Lys119=) c.975G= (p.Lys325=) c.1239G= (p.Lys413=) c.1209G= (p.Lys403=) | |
11 | g.72230444G>T | CA381725426 | INPPL1 | c.1173G>T (p.Lys391Asn) c.447G>T (p.Lys149Asn) c.357G>T (p.Lys119Asn) c.975G>T (p.Lys325Asn) c.1239G>T (p.Lys413Asn) c.1209G>T (p.Lys403Asn) | |
11 | g.72230445G>A | CA381725428 | INPPL1 | c.1174G>A (p.Asp392Asn) c.448G>A (p.Asp150Asn) c.358G>A (p.Asp120Asn) c.976G>A (p.Asp326Asn) c.1240G>A (p.Asp414Asn) c.1210G>A (p.Asp404Asn) | |
11 | g.72230445G>C | CA381725430 | INPPL1 | c.1174G>C (p.Asp392His) c.448G>C (p.Asp150His) c.358G>C (p.Asp120His) c.976G>C (p.Asp326His) c.1240G>C (p.Asp414His) c.1210G>C (p.Asp404His) | |
11 | g.72230445G>T | CA381725431 | INPPL1 | c.1174G>T (p.Asp392Tyr) c.448G>T (p.Asp150Tyr) c.358G>T (p.Asp120Tyr) c.976G>T (p.Asp326Tyr) c.1240G>T (p.Asp414Tyr) c.1210G>T (p.Asp404Tyr) | gnomAD v4 |
11 | g.72230446A>C | CA381725433 | INPPL1 | c.1175A>C (p.Asp392Ala) c.449A>C (p.Asp150Ala) c.359A>C (p.Asp120Ala) c.977A>C (p.Asp326Ala) c.1241A>C (p.Asp414Ala) c.1211A>C (p.Asp404Ala) | |
11 | g.72230446A>G | CA381725436 | INPPL1 | c.1175A>G (p.Asp392Gly) c.449A>G (p.Asp150Gly) c.359A>G (p.Asp120Gly) c.977A>G (p.Asp326Gly) c.1241A>G (p.Asp414Gly) c.1211A>G (p.Asp404Gly) | |
11 | g.72230446A>T | CA381725439 | INPPL1 | c.1175A>T (p.Asp392Val) c.449A>T (p.Asp150Val) c.359A>T (p.Asp120Val) c.977A>T (p.Asp326Val) c.1241A>T (p.Asp414Val) c.1211A>T (p.Asp404Val) | |
11 | g.72230447C>A | CA381725444 | INPPL1 | c.1176C>A (p.Asp392Glu) c.450C>A (p.Asp150Glu) c.360C>A (p.Asp120Glu) c.978C>A (p.Asp326Glu) c.1242C>A (p.Asp414Glu) c.1212C>A (p.Asp404Glu) | |
11 | g.72230447C>G | CA381725442 | INPPL1 | c.1176C>G (p.Asp392Glu) c.450C>G (p.Asp150Glu) c.360C>G (p.Asp120Glu) c.978C>G (p.Asp326Glu) c.1242C>G (p.Asp414Glu) c.1212C>G (p.Asp404Glu) | |
11 | g.72230447C>T | CA475865935 | INPPL1 | c.1176C>T (p.Asp392=) c.450C>T (p.Asp150=) c.360C>T (p.Asp120=) c.978C>T (p.Asp326=) c.1242C>T (p.Asp414=) c.1212C>T (p.Asp404=) | |
11 | g.72230448T>A | CA381725445 | INPPL1 | c.1177T>A (p.Phe393Ile) c.451T>A (p.Phe151Ile) c.361T>A (p.Phe121Ile) c.979T>A (p.Phe327Ile) c.1243T>A (p.Phe415Ile) c.1213T>A (p.Phe405Ile) | |
11 | g.72230448T>C | CA6169925 | INPPL1 | c.1177T>C (p.Phe393Leu) c.451T>C (p.Phe151Leu) c.361T>C (p.Phe121Leu) c.979T>C (p.Phe327Leu) c.1243T>C (p.Phe415Leu) c.1213T>C (p.Phe405Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230448T>G | CA381725449 | INPPL1 | c.1177T>G (p.Phe393Val) c.451T>G (p.Phe151Val) c.361T>G (p.Phe121Val) c.979T>G (p.Phe327Val) c.1243T>G (p.Phe415Val) c.1213T>G (p.Phe405Val) | |
11 | g.72230448T= | CA1981898077 | INPPL1 | c.1177T= (p.Phe393=) c.451T= (p.Phe151=) c.361T= (p.Phe121=) c.979T= (p.Phe327=) c.1243T= (p.Phe415=) c.1213T= (p.Phe405=) | |
11 | g.72230449T>A | CA381725451 | INPPL1 | c.1178T>A (p.Phe393Tyr) c.452T>A (p.Phe151Tyr) c.362T>A (p.Phe121Tyr) c.980T>A (p.Phe327Tyr) c.1244T>A (p.Phe415Tyr) c.1214T>A (p.Phe405Tyr) | |
11 | g.72230449T>C | CA381725453 | INPPL1 | c.1178T>C (p.Phe393Ser) c.452T>C (p.Phe151Ser) c.362T>C (p.Phe121Ser) c.980T>C (p.Phe327Ser) c.1244T>C (p.Phe415Ser) c.1214T>C (p.Phe405Ser) | |
11 | g.72230449T>G | CA381725455 | INPPL1 | c.1178T>G (p.Phe393Cys) c.452T>G (p.Phe151Cys) c.362T>G (p.Phe121Cys) c.980T>G (p.Phe327Cys) c.1244T>G (p.Phe415Cys) c.1214T>G (p.Phe405Cys) | |
11 | g.72230450C>A | CA381725458 | INPPL1 | c.1179C>A (p.Phe393Leu) c.453C>A (p.Phe151Leu) c.363C>A (p.Phe121Leu) c.981C>A (p.Phe327Leu) c.1245C>A (p.Phe415Leu) c.1215C>A (p.Phe405Leu) | |
11 | g.72230450C= | CA1981898078 | INPPL1 | c.1179C= (p.Phe393=) c.453C= (p.Phe151=) c.363C= (p.Phe121=) c.981C= (p.Phe327=) c.1245C= (p.Phe415=) c.1215C= (p.Phe405=) | |
11 | g.72230450C>G | CA381725462 | INPPL1 | c.1179C>G (p.Phe393Leu) c.453C>G (p.Phe151Leu) c.363C>G (p.Phe121Leu) c.981C>G (p.Phe327Leu) c.1245C>G (p.Phe415Leu) c.1215C>G (p.Phe405Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230450C>T | CA6169926 | INPPL1 | c.1179C>T (p.Phe393=) c.453C>T (p.Phe151=) c.363C>T (p.Phe121=) c.981C>T (p.Phe327=) c.1245C>T (p.Phe415=) c.1215C>T (p.Phe405=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230451A= | CA1981898079 | INPPL1 | c.1180A= (p.Ile394=) c.454A= (p.Ile152=) c.364A= (p.Ile122=) c.982A= (p.Ile328=) c.1246A= (p.Ile416=) c.1216A= (p.Ile406=) | |
11 | g.72230451A>C | CA381725464 | INPPL1 | c.1180A>C (p.Ile394Leu) c.454A>C (p.Ile152Leu) c.364A>C (p.Ile122Leu) c.982A>C (p.Ile328Leu) c.1246A>C (p.Ile416Leu) c.1216A>C (p.Ile406Leu) | |
11 | g.72230451A>G | CA381725465 | INPPL1 | c.1180A>G (p.Ile394Val) c.454A>G (p.Ile152Val) c.364A>G (p.Ile122Val) c.982A>G (p.Ile328Val) c.1246A>G (p.Ile416Val) c.1216A>G (p.Ile406Val) | gnomAD v4 |
11 | g.72230451A>T | CA6169927 | INPPL1 | c.1180A>T (p.Ile394Phe) c.454A>T (p.Ile152Phe) c.364A>T (p.Ile122Phe) c.982A>T (p.Ile328Phe) c.1246A>T (p.Ile416Phe) c.1216A>T (p.Ile406Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230452T>A | CA381725469 | INPPL1 | c.1181T>A (p.Ile394Asn) c.455T>A (p.Ile152Asn) c.365T>A (p.Ile122Asn) c.983T>A (p.Ile328Asn) c.1247T>A (p.Ile416Asn) c.1217T>A (p.Ile406Asn) | |
11 | g.72230452T>C | CA381725473 | INPPL1 | c.1181T>C (p.Ile394Thr) c.455T>C (p.Ile152Thr) c.365T>C (p.Ile122Thr) c.983T>C (p.Ile328Thr) c.1247T>C (p.Ile416Thr) c.1217T>C (p.Ile406Thr) | |
11 | g.72230452T>G | CA381725476 | INPPL1 | c.1181T>G (p.Ile394Ser) c.455T>G (p.Ile152Ser) c.365T>G (p.Ile122Ser) c.983T>G (p.Ile328Ser) c.1247T>G (p.Ile416Ser) c.1217T>G (p.Ile406Ser) | |
11 | g.72230453C>A | CA475865936 | INPPL1 | c.1182C>A (p.Ile394=) c.456C>A (p.Ile152=) c.366C>A (p.Ile122=) c.984C>A (p.Ile328=) c.1248C>A (p.Ile416=) c.1218C>A (p.Ile406=) | |
11 | g.72230453C= | CA1981898080 | INPPL1 | c.1182C= (p.Ile394=) c.456C= (p.Ile152=) c.366C= (p.Ile122=) c.984C= (p.Ile328=) c.1248C= (p.Ile416=) c.1218C= (p.Ile406=) | |
11 | g.72230453C>G | CA381725479 | INPPL1 | c.1182C>G (p.Ile394Met) c.456C>G (p.Ile152Met) c.366C>G (p.Ile122Met) c.984C>G (p.Ile328Met) c.1248C>G (p.Ile416Met) c.1218C>G (p.Ile406Met) | |
11 | g.72230453C>T | CA475865937 | INPPL1 | c.1182C>T (p.Ile394=) c.456C>T (p.Ile152=) c.366C>T (p.Ile122=) c.984C>T (p.Ile328=) c.1248C>T (p.Ile416=) c.1218C>T (p.Ile406=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230454T>A | CA381725481 | INPPL1 | c.1183T>A (p.Phe395Ile) c.457T>A (p.Phe153Ile) c.367T>A (p.Phe123Ile) c.985T>A (p.Phe329Ile) c.1249T>A (p.Phe417Ile) c.1219T>A (p.Phe407Ile) | |
11 | g.72230454T>C | CA381725483 | INPPL1 | c.1183T>C (p.Phe395Leu) c.457T>C (p.Phe153Leu) c.367T>C (p.Phe123Leu) c.985T>C (p.Phe329Leu) c.1249T>C (p.Phe417Leu) c.1219T>C (p.Phe407Leu) | |
11 | g.72230454T>G | CA381725485 | INPPL1 | c.1183T>G (p.Phe395Val) c.457T>G (p.Phe153Val) c.367T>G (p.Phe123Val) c.985T>G (p.Phe329Val) c.1249T>G (p.Phe417Val) c.1219T>G (p.Phe407Val) | |
11 | g.72230455_72230456dup | CA679977070 | INPPL1 | c.1184_1185dup (p.Val396LeufsTer17) c.458_459dup (p.Val154LeufsTer17) c.368_369dup (p.Val124LeufsTer?) c.986_987dup (p.Val330LeufsTer17) c.1250_1251dup (p.Val418LeufsTer17) c.1220_1221dup (p.Val408LeufsTer17) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230455T>A | CA381725492 | INPPL1 | c.1184T>A (p.Phe395Tyr) c.458T>A (p.Phe153Tyr) c.368T>A (p.Phe123Tyr) c.986T>A (p.Phe329Tyr) c.1250T>A (p.Phe417Tyr) c.1220T>A (p.Phe407Tyr) | |
11 | g.72230455T>C | CA381725490 | INPPL1 | c.1184T>C (p.Phe395Ser) c.458T>C (p.Phe153Ser) c.368T>C (p.Phe123Ser) c.986T>C (p.Phe329Ser) c.1250T>C (p.Phe417Ser) c.1220T>C (p.Phe407Ser) | |
11 | g.72230455T>G | CA381725488 | INPPL1 | c.1184T>G (p.Phe395Cys) c.458T>G (p.Phe153Cys) c.368T>G (p.Phe123Cys) c.986T>G (p.Phe329Cys) c.1250T>G (p.Phe417Cys) c.1220T>G (p.Phe407Cys) | |
11 | g.72230456T>A | CA381725495 | INPPL1 | c.1185T>A (p.Phe395Leu) c.459T>A (p.Phe153Leu) c.369T>A (p.Phe123Leu) c.987T>A (p.Phe329Leu) c.1251T>A (p.Phe417Leu) c.1221T>A (p.Phe407Leu) | |
11 | g.72230456T>C | CA475865938 | INPPL1 | c.1185T>C (p.Phe395=) c.459T>C (p.Phe153=) c.369T>C (p.Phe123=) c.987T>C (p.Phe329=) c.1251T>C (p.Phe417=) c.1221T>C (p.Phe407=) | dbSNP |
11 | g.72230456T>G | CA381725498 | INPPL1 | c.1185T>G (p.Phe395Leu) c.459T>G (p.Phe153Leu) c.369T>G (p.Phe123Leu) c.987T>G (p.Phe329Leu) c.1251T>G (p.Phe417Leu) c.1221T>G (p.Phe407Leu) | |
11 | g.72230456T= | CA1981898081 | INPPL1 | c.1185T= (p.Phe395=) c.459T= (p.Phe153=) c.369T= (p.Phe123=) c.987T= (p.Phe329=) c.1251T= (p.Phe417=) c.1221T= (p.Phe407=) | |
11 | g.72230457G>A | CA381725499 | INPPL1 | c.1186G>A (p.Val396Ile) c.460G>A (p.Val154Ile) c.370G>A (p.Val124Ile) c.988G>A (p.Val330Ile) c.1252G>A (p.Val418Ile) c.1222G>A (p.Val408Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230457G>C | CA381725501 | INPPL1 | c.1186G>C (p.Val396Leu) c.460G>C (p.Val154Leu) c.370G>C (p.Val124Leu) c.988G>C (p.Val330Leu) c.1252G>C (p.Val418Leu) c.1222G>C (p.Val408Leu) | gnomAD v4 |
11 | g.72230457G= | CA1981898082 | INPPL1 | c.1186G= (p.Val396=) c.460G= (p.Val154=) c.370G= (p.Val124=) c.988G= (p.Val330=) c.1252G= (p.Val418=) c.1222G= (p.Val408=) | |
11 | g.72230457G>T | CA381725502 | INPPL1 | c.1186G>T (p.Val396Phe) c.460G>T (p.Val154Phe) c.370G>T (p.Val124Phe) c.988G>T (p.Val330Phe) c.1252G>T (p.Val418Phe) c.1222G>T (p.Val408Phe) | |
11 | g.72230458T>A | CA381725504 | INPPL1 | c.1187T>A (p.Val396Asp) c.461T>A (p.Val154Asp) c.371T>A (p.Val124Asp) c.989T>A (p.Val330Asp) c.1253T>A (p.Val418Asp) c.1223T>A (p.Val408Asp) | gnomAD v4 |
11 | g.72230458T>C | CA381725506 | INPPL1 | c.1187T>C (p.Val396Ala) c.461T>C (p.Val154Ala) c.371T>C (p.Val124Ala) c.989T>C (p.Val330Ala) c.1253T>C (p.Val418Ala) c.1223T>C (p.Val408Ala) | |
11 | g.72230458T>G | CA381725507 | INPPL1 | c.1187T>G (p.Val396Gly) c.461T>G (p.Val154Gly) c.371T>G (p.Val124Gly) c.989T>G (p.Val330Gly) c.1253T>G (p.Val418Gly) c.1223T>G (p.Val408Gly) | |
11 | g.72230459C>A | CA475865939 | INPPL1 | c.1188C>A (p.Val396=) c.462C>A (p.Val154=) c.372C>A (p.Val124=) c.990C>A (p.Val330=) c.1254C>A (p.Val418=) c.1224C>A (p.Val408=) | |
11 | g.72230459C= | CA1981898083 | INPPL1 | c.1188C= (p.Val396=) c.462C= (p.Val154=) c.372C= (p.Val124=) c.990C= (p.Val330=) c.1254C= (p.Val418=) c.1224C= (p.Val408=) | |
11 | g.72230459C>G | CA6169928 | INPPL1 | c.1188C>G (p.Val396=) c.462C>G (p.Val154=) c.372C>G (p.Val124=) c.990C>G (p.Val330=) c.1254C>G (p.Val418=) c.1224C>G (p.Val408=) | dbSNP ExAC gnomAD v4 |
11 | g.72230459C>T | CA475865940 | INPPL1 | c.1188C>T (p.Val396=) c.462C>T (p.Val154=) c.372C>T (p.Val124=) c.990C>T (p.Val330=) c.1254C>T (p.Val418=) c.1224C>T (p.Val408=) | |
11 | g.72230460A>C | CA381725508 | INPPL1 | c.1189A>C (p.Ser397Arg) c.463A>C (p.Ser155Arg) c.373A>C (p.Ser125Arg) c.991A>C (p.Ser331Arg) c.1255A>C (p.Ser419Arg) c.1225A>C (p.Ser409Arg) | |
11 | g.72230460A>G | CA381725510 | INPPL1 | c.1189A>G (p.Ser397Gly) c.463A>G (p.Ser155Gly) c.373A>G (p.Ser125Gly) c.991A>G (p.Ser331Gly) c.1255A>G (p.Ser419Gly) c.1225A>G (p.Ser409Gly) | COSMIC |
11 | g.72230460A>T | CA381725511 | INPPL1 | c.1189A>T (p.Ser397Cys) c.463A>T (p.Ser155Cys) c.373A>T (p.Ser125Cys) c.991A>T (p.Ser331Cys) c.1255A>T (p.Ser419Cys) c.1225A>T (p.Ser409Cys) | |
11 | g.72230461G>A | CA381725518 | INPPL1 | c.1190G>A (p.Ser397Asn) c.464G>A (p.Ser155Asn) c.374G>A (p.Ser125Asn) c.992G>A (p.Ser331Asn) c.1256G>A (p.Ser419Asn) c.1226G>A (p.Ser409Asn) | |
11 | g.72230461G>C | CA381725516 | INPPL1 | c.1190G>C (p.Ser397Thr) c.464G>C (p.Ser155Thr) c.374G>C (p.Ser125Thr) c.992G>C (p.Ser331Thr) c.1256G>C (p.Ser419Thr) c.1226G>C (p.Ser409Thr) | |
11 | g.72230461G>T | CA381725513 | INPPL1 | c.1190G>T (p.Ser397Ile) c.464G>T (p.Ser155Ile) c.374G>T (p.Ser125Ile) c.992G>T (p.Ser331Ile) c.1256G>T (p.Ser419Ile) c.1226G>T (p.Ser409Ile) | |
11 | g.72230462T>A | CA381725519 | INPPL1 | c.1191T>A (p.Ser397Arg) c.465T>A (p.Ser155Arg) c.375T>A (p.Ser125Arg) c.993T>A (p.Ser331Arg) c.1257T>A (p.Ser419Arg) c.1227T>A (p.Ser409Arg) | |
11 | g.72230462T>C | CA475865941 | INPPL1 | c.1191T>C (p.Ser397=) c.465T>C (p.Ser155=) c.375T>C (p.Ser125=) c.993T>C (p.Ser331=) c.1257T>C (p.Ser419=) c.1227T>C (p.Ser409=) | |
11 | g.72230462T>G | CA381725524 | INPPL1 | c.1191T>G (p.Ser397Arg) c.465T>G (p.Ser155Arg) c.375T>G (p.Ser125Arg) c.993T>G (p.Ser331Arg) c.1257T>G (p.Ser419Arg) c.1227T>G (p.Ser409Arg) | |
11 | g.72230463G>A | CA381725532 | INPPL1 | c.1192G>A (p.Ala398Thr) c.466G>A (p.Ala156Thr) c.376G>A (p.Ala126Thr) c.994G>A (p.Ala332Thr) c.1258G>A (p.Ala420Thr) c.1228G>A (p.Ala410Thr) | |
11 | g.72230463G>C | CA381725533 | INPPL1 | c.1192G>C (p.Ala398Pro) c.466G>C (p.Ala156Pro) c.376G>C (p.Ala126Pro) c.994G>C (p.Ala332Pro) c.1258G>C (p.Ala420Pro) c.1228G>C (p.Ala410Pro) | |
11 | g.72230463G>T | CA381725534 | INPPL1 | c.1192G>T (p.Ala398Ser) c.466G>T (p.Ala156Ser) c.376G>T (p.Ala126Ser) c.994G>T (p.Ala332Ser) c.1258G>T (p.Ala420Ser) c.1228G>T (p.Ala410Ser) | gnomAD v4 |
11 | g.72230464C>A | CA381725535 | INPPL1 | c.1193C>A (p.Ala398Asp) c.467C>A (p.Ala156Asp) c.377C>A (p.Ala126Asp) c.995C>A (p.Ala332Asp) c.1259C>A (p.Ala420Asp) c.1229C>A (p.Ala410Asp) | |
11 | g.72230464C>G | CA381725537 | INPPL1 | c.1193C>G (p.Ala398Gly) c.467C>G (p.Ala156Gly) c.377C>G (p.Ala126Gly) c.995C>G (p.Ala332Gly) c.1259C>G (p.Ala420Gly) c.1229C>G (p.Ala410Gly) | |
11 | g.72230464C>T | CA381725538 | INPPL1 | c.1193C>T (p.Ala398Val) c.467C>T (p.Ala156Val) c.377C>T (p.Ala126Val) c.995C>T (p.Ala332Val) c.1259C>T (p.Ala420Val) c.1229C>T (p.Ala410Val) | gnomAD v4 |
11 | g.72230465C>A | CA475865942 | INPPL1 | c.1194C>A (p.Ala398=) c.468C>A (p.Ala156=) c.378C>A (p.Ala126=) c.996C>A (p.Ala332=) c.1260C>A (p.Ala420=) c.1230C>A (p.Ala410=) | |
11 | g.72230465C>G | CA475865943 | INPPL1 | c.1194C>G (p.Ala398=) c.468C>G (p.Ala156=) c.378C>G (p.Ala126=) c.996C>G (p.Ala332=) c.1260C>G (p.Ala420=) c.1230C>G (p.Ala410=) | |
11 | g.72230465C>T | CA475865944 | INPPL1 | c.1194C>T (p.Ala398=) c.468C>T (p.Ala156=) c.378C>T (p.Ala126=) c.996C>T (p.Ala332=) c.1260C>T (p.Ala420=) c.1230C>T (p.Ala410=) | |
11 | g.72230466C>A | CA475865945 | INPPL1 | c.1195C>A (p.Arg399=) c.469C>A (p.Arg157=) c.379C>A (p.Arg127=) c.997C>A (p.Arg333=) c.1261C>A (p.Arg421=) c.1231C>A (p.Arg411=) | |
11 | g.72230466C= | CA1981898084 | INPPL1 | c.1195C= (p.Arg399=) c.469C= (p.Arg157=) c.379C= (p.Arg127=) c.997C= (p.Arg333=) c.1261C= (p.Arg421=) c.1231C= (p.Arg411=) | |
11 | g.72230466C>G | CA381725539 | INPPL1 | c.1195C>G (p.Arg399Gly) c.469C>G (p.Arg157Gly) c.379C>G (p.Arg127Gly) c.997C>G (p.Arg333Gly) c.1261C>G (p.Arg421Gly) c.1231C>G (p.Arg411Gly) | gnomAD v4 |
11 | g.72230466C>T | CA381725540 | INPPL1 | c.1195C>T (p.Arg399Trp) c.469C>T (p.Arg157Trp) c.379C>T (p.Arg127Trp) c.997C>T (p.Arg333Trp) c.1261C>T (p.Arg421Trp) c.1231C>T (p.Arg411Trp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230467G>A | CA6169929 | INPPL1 | c.1196G>A (p.Arg399Gln) c.470G>A (p.Arg157Gln) c.380G>A (p.Arg127Gln) c.998G>A (p.Arg333Gln) c.1262G>A (p.Arg421Gln) c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230467G>C | CA381725554 | INPPL1 | c.1196G>C (p.Arg399Pro) c.470G>C (p.Arg157Pro) c.380G>C (p.Arg127Pro) c.998G>C (p.Arg333Pro) c.1262G>C (p.Arg421Pro) c.1232G>C (p.Arg411Pro) | gnomAD v4 |
11 | g.72230467G= | CA1981898085 | INPPL1 | c.1196G= (p.Arg399=) c.470G= (p.Arg157=) c.380G= (p.Arg127=) c.998G= (p.Arg333=) c.1262G= (p.Arg421=) c.1232G= (p.Arg411=) | |
11 | g.72230467G>T | CA381725556 | INPPL1 | c.1196G>T (p.Arg399Leu) c.470G>T (p.Arg157Leu) c.380G>T (p.Arg127Leu) c.998G>T (p.Arg333Leu) c.1262G>T (p.Arg421Leu) c.1232G>T (p.Arg411Leu) | |
11 | g.72230468G>A | CA475865946 | INPPL1 | c.1197G>A (p.Arg399=) c.471G>A (p.Arg157=) c.381G>A (p.Arg127=) c.999G>A (p.Arg333=) c.1263G>A (p.Arg421=) c.1233G>A (p.Arg411=) | |
11 | g.72230468G>C | CA475865947 | INPPL1 | c.1197G>C (p.Arg399=) c.471G>C (p.Arg157=) c.381G>C (p.Arg127=) c.999G>C (p.Arg333=) c.1263G>C (p.Arg421=) c.1233G>C (p.Arg411=) | |
11 | g.72230468G>T | CA475865948 | INPPL1 | c.1197G>T (p.Arg399=) c.471G>T (p.Arg157=) c.381G>T (p.Arg127=) c.999G>T (p.Arg333=) c.1263G>T (p.Arg421=) c.1233G>T (p.Arg411=) | |
11 | g.72230469G>A | CA381725562 | INPPL1 | c.1197+1G>A (n.1197+1G>A) c.471+1G>A (n.471+1G>A) c.999+1G>A (n.999+1G>A) c.1263+1G>A (n.1263+1G>A) c.1233+1G>A (n.1233+1G>A) | |
11 | g.72230469G>C | CA381725560 | INPPL1 | c.1197+1G>C (n.1197+1G>C) c.471+1G>C (n.471+1G>C) c.999+1G>C (n.999+1G>C) c.1263+1G>C (n.1263+1G>C) c.1233+1G>C (n.1233+1G>C) | |
11 | g.72230469G= | CA1981898086 | INPPL1 | c.1197+1G= (n.1197+1G=) c.471+1G= (n.471+1G=) c.999+1G= (n.999+1G=) c.1263+1G= (n.1263+1G=) c.1233+1G= (n.1233+1G=) | |
11 | g.72230469G>T | CA6169930 | INPPL1 | c.1197+1G>T (n.1197+1G>T) c.471+1G>T (n.471+1G>T) c.999+1G>T (n.999+1G>T) c.1263+1G>T (n.1263+1G>T) c.1233+1G>T (n.1233+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230470T>A | CA381725569 | INPPL1 | c.1197+2T>A (n.1197+2T>A) c.471+2T>A (n.471+2T>A) c.999+2T>A (n.999+2T>A) c.1263+2T>A (n.1263+2T>A) c.1233+2T>A (n.1233+2T>A) | |
11 | g.72230470T>C | CA381725566 | INPPL1 | c.1197+2T>C (n.1197+2T>C) c.471+2T>C (n.471+2T>C) c.999+2T>C (n.999+2T>C) c.1263+2T>C (n.1263+2T>C) c.1233+2T>C (n.1233+2T>C) | |
11 | g.72230470T>G | CA381725571 | INPPL1 | c.1197+2T>G (n.1197+2T>G) c.471+2T>G (n.471+2T>G) c.999+2T>G (n.999+2T>G) c.1263+2T>G (n.1263+2T>G) c.1233+2T>G (n.1233+2T>G) | |
11 | g.72230471_72230474dup | CA2614932206 | INPPL1 | c.1197+3_1197+6dup (n.1197+3_1197+6dup) c.471+3_471+6dup (n.471+3_471+6dup) c.999+3_999+6dup (n.999+3_999+6dup) c.1263+3_1263+6dup (n.1263+3_1263+6dup) c.1233+3_1233+6dup (n.1233+3_1233+6dup) | gnomAD v4 |
11 | g.72230472A= | CA1981898087 | INPPL1 | c.1197+4A= (n.1197+4A=) c.471+4A= (n.471+4A=) c.999+4A= (n.999+4A=) c.1263+4A= (n.1263+4A=) c.1233+4A= (n.1233+4A=) | |
11 | g.72230472A>G | CA679977112 | INPPL1 | c.1197+4A>G (n.1197+4A>G) c.471+4A>G (n.471+4A>G) c.999+4A>G (n.999+4A>G) c.1263+4A>G (n.1263+4A>G) c.1233+4A>G (n.1233+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230473G>A | CA6169931 | INPPL1 | c.1197+5G>A (n.1197+5G>A) c.471+5G>A (n.471+5G>A) c.999+5G>A (n.999+5G>A) c.1263+5G>A (n.1263+5G>A) c.1233+5G>A (n.1233+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230473G= | CA1981898088 | INPPL1 | c.1197+5G= (n.1197+5G=) c.471+5G= (n.471+5G=) c.999+5G= (n.999+5G=) c.1263+5G= (n.1263+5G=) c.1233+5G= (n.1233+5G=) | |
11 | g.72230475A>G | CA2574912889 | INPPL1 | c.1197+7A>G (n.1197+7A>G) c.471+7A>G (n.471+7A>G) c.999+7A>G (n.999+7A>G) c.1263+7A>G (n.1263+7A>G) c.1233+7A>G (n.1233+7A>G) | |
11 | g.72230476G>A | CA6169932 | INPPL1 | c.1197+8G>A (n.1197+8G>A) c.471+8G>A (n.471+8G>A) c.999+8G>A (n.999+8G>A) c.1263+8G>A (n.1263+8G>A) c.1233+8G>A (n.1233+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72230476G= | CA1981898089 | INPPL1 | c.1197+8G= (n.1197+8G=) c.471+8G= (n.471+8G=) c.999+8G= (n.999+8G=) c.1263+8G= (n.1263+8G=) c.1233+8G= (n.1233+8G=) | |
11 | g.72230476_72230477delinsGC | CA1981898090 | INPPL1 | c.1197+8_1197+9delinsGC (n.1197+8_1197+9delinsGC) c.471+8_471+9delinsGC (n.471+8_471+9delinsGC) c.999+8_999+9delinsGC (n.999+8_999+9delinsGC) c.1263+8_1263+9delinsGC (n.1263+8_1263+9delinsGC) c.1233+8_1233+9delinsGC (n.1233+8_1233+9delinsGC) | |
11 | g.72230477del | CA679977116 | INPPL1 | c.1197+9del (n.1197+9del) c.471+9del (n.471+9del) c.999+9del (n.999+9del) c.1263+9del (n.1263+9del) c.1233+9del (n.1233+9del) | dbSNP gnomAD v4 |
11 | g.72230477C= | CA1981898091 | INPPL1 | c.1197+9C= (n.1197+9C=) c.471+9C= (n.471+9C=) c.999+9C= (n.999+9C=) c.1263+9C= (n.1263+9C=) c.1233+9C= (n.1233+9C=) | |
11 | g.72230477C>T | CA600243024 | INPPL1 | c.1197+9C>T (n.1197+9C>T) c.471+9C>T (n.471+9C>T) c.999+9C>T (n.999+9C>T) c.1263+9C>T (n.1263+9C>T) c.1233+9C>T (n.1233+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230478A>C | CA2614932207 | INPPL1 | c.1197+10A>C (n.1197+10A>C) c.471+10A>C (n.471+10A>C) c.999+10A>C (n.999+10A>C) c.1263+10A>C (n.1263+10A>C) c.1233+10A>C (n.1233+10A>C) | gnomAD v4 |
11 | g.72230478A>G | CA2614932208 | INPPL1 | c.1197+10A>G (n.1197+10A>G) c.471+10A>G (n.471+10A>G) c.999+10A>G (n.999+10A>G) c.1263+10A>G (n.1263+10A>G) c.1233+10A>G (n.1233+10A>G) | gnomAD v4 |
11 | g.72230480G>A | CA2614932209 | INPPL1 | c.1197+12G>A (n.1197+12G>A) c.471+12G>A (n.471+12G>A) c.999+12G>A (n.999+12G>A) c.1263+12G>A (n.1263+12G>A) c.1233+12G>A (n.1233+12G>A) | gnomAD v4 |
11 | g.72230480G>C | CA6169933 | INPPL1 | c.1197+12G>C (n.1197+12G>C) c.471+12G>C (n.471+12G>C) c.999+12G>C (n.999+12G>C) c.1263+12G>C (n.1263+12G>C) c.1233+12G>C (n.1233+12G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230480G= | CA1981898092 | INPPL1 | c.1197+12G= (n.1197+12G=) c.471+12G= (n.471+12G=) c.999+12G= (n.999+12G=) c.1263+12G= (n.1263+12G=) c.1233+12G= (n.1233+12G=) | |
11 | g.72230481C= | CA1981898093 | INPPL1 | c.1197+13C= (n.1197+13C=) c.471+13C= (n.471+13C=) c.999+13C= (n.999+13C=) c.1263+13C= (n.1263+13C=) c.1233+13C= (n.1233+13C=) | |
11 | g.72230481C>T | CA939440617 | INPPL1 | c.1197+13C>T (n.1197+13C>T) c.471+13C>T (n.471+13C>T) c.999+13C>T (n.999+13C>T) c.1263+13C>T (n.1263+13C>T) c.1233+13C>T (n.1233+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72230482T>C | CA2614932210 | INPPL1 | c.1197+14T>C (n.1197+14T>C) c.471+14T>C (n.471+14T>C) c.999+14T>C (n.999+14T>C) c.1263+14T>C (n.1263+14T>C) c.1233+14T>C (n.1233+14T>C) | gnomAD v4 |
11 | g.72230483G>A | CA6169934 | INPPL1 | c.1197+15G>A (n.1197+15G>A) c.471+15G>A (n.471+15G>A) c.999+15G>A (n.999+15G>A) c.1263+15G>A (n.1263+15G>A) c.1233+15G>A (n.1233+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72230483G= | CA1981898094 | INPPL1 | c.1197+15G= (n.1197+15G=) c.471+15G= (n.471+15G=) c.999+15G= (n.999+15G=) c.1263+15G= (n.1263+15G=) c.1233+15G= (n.1233+15G=) | |
11 | g.72230484G>A | CA2614932211 | INPPL1 | c.1197+16G>A (n.1197+16G>A) c.471+16G>A (n.471+16G>A) c.999+16G>A (n.999+16G>A) c.1263+16G>A (n.1263+16G>A) c.1233+16G>A (n.1233+16G>A) | gnomAD v4 |
11 | g.72230485G>A | CA2614932212 | INPPL1 | c.1197+17G>A (n.1197+17G>A) c.471+17G>A (n.471+17G>A) c.999+17G>A (n.999+17G>A) c.1263+17G>A (n.1263+17G>A) c.1233+17G>A (n.1233+17G>A) | gnomAD v4 |
11 | g.72230486C>A | CA2518812852 | INPPL1 | c.1197+18C>A (n.1197+18C>A) c.471+18C>A (n.471+18C>A) c.999+18C>A (n.999+18C>A) c.1263+18C>A (n.1263+18C>A) c.1233+18C>A (n.1233+18C>A) | gnomAD v4 |
11 | g.72230486C>T | CA2614932213 | INPPL1 | c.1197+18C>T (n.1197+18C>T) c.471+18C>T (n.471+18C>T) c.999+18C>T (n.999+18C>T) c.1263+18C>T (n.1263+18C>T) c.1233+18C>T (n.1233+18C>T) | gnomAD v4 |
11 | g.72230487C= | CA1981898095 | INPPL1 | c.1197+19C= (n.1197+19C=) c.471+19C= (n.471+19C=) c.999+19C= (n.999+19C=) c.1263+19C= (n.1263+19C=) c.1233+19C= (n.1233+19C=) | |
11 | g.72230487C>T | CA1981898096 | INPPL1 | c.1197+19C>T (n.1197+19C>T) c.471+19C>T (n.471+19C>T) c.999+19C>T (n.999+19C>T) c.1263+19C>T (n.1263+19C>T) c.1233+19C>T (n.1233+19C>T) | dbSNP |
11 | g.72230489G>C | CA2614932214 | INPPL1 | c.1197+21G>C (n.1197+21G>C) c.471+21G>C (n.471+21G>C) c.999+21G>C (n.999+21G>C) c.1263+21G>C (n.1263+21G>C) c.1233+21G>C (n.1233+21G>C) | gnomAD v4 |
11 | g.72230491C>T | CA2574912890 | INPPL1 | c.1197+23C>T (n.1197+23C>T) c.471+23C>T (n.471+23C>T) c.999+23C>T (n.999+23C>T) c.1263+23C>T (n.1263+23C>T) c.1233+23C>T (n.1233+23C>T) | gnomAD v4 |
11 | g.72230492C= | CA1981898097 | INPPL1 | c.1197+24C= (n.1197+24C=) c.471+24C= (n.471+24C=) c.999+24C= (n.999+24C=) c.1263+24C= (n.1263+24C=) c.1233+24C= (n.1233+24C=) | |
11 | g.72230492C>T | CA600243025 | INPPL1 | c.1197+24C>T (n.1197+24C>T) c.471+24C>T (n.471+24C>T) c.999+24C>T (n.999+24C>T) c.1263+24C>T (n.1263+24C>T) c.1233+24C>T (n.1233+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72230493A= | CA1981898098 | INPPL1 | c.1197+25A= (n.1197+25A=) c.471+25A= (n.471+25A=) c.999+25A= (n.999+25A=) c.1263+25A= (n.1263+25A=) c.1233+25A= (n.1233+25A=) | |
11 | g.72230493A>G | CA2614932215 | INPPL1 | c.1197+25A>G (n.1197+25A>G) c.471+25A>G (n.471+25A>G) c.999+25A>G (n.999+25A>G) c.1263+25A>G (n.1263+25A>G) c.1233+25A>G (n.1233+25A>G) | gnomAD v4 |
11 | g.72230493A>T | CA6169935 | INPPL1 | c.1197+25A>T (n.1197+25A>T) c.471+25A>T (n.471+25A>T) c.999+25A>T (n.999+25A>T) c.1263+25A>T (n.1263+25A>T) c.1233+25A>T (n.1233+25A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |