Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35503626C>A | CA363779164 | TULP1 | c.1256G>T (p.Arg419Leu) c.1097G>T (p.Arg366Leu) n.432G>T n.273G>T c.1250G>T (p.Arg417Leu) | gnomAD v4 |
6 | g.35503626C= | CA1620921930 | TULP1 | c.1256G= (p.Arg419=) c.1097G= (p.Arg366=) n.432G= n.273G= c.1250G= (p.Arg417=) | |
6 | g.35503626C>G | CA363779165 | TULP1 | c.1256G>C (p.Arg419Pro) c.1097G>C (p.Arg366Pro) n.432G>C n.273G>C c.1250G>C (p.Arg417Pro) | gnomAD v4 |
6 | g.35503626C>T | CA236254 | TULP1 | c.1256G>A (p.Arg419Gln) c.1097G>A (p.Arg366Gln) n.432G>A n.273G>A c.1250G>A (p.Arg417Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35503626_35503627delinsCG | CA1620921932 | TULP1 | c.1255_1256delinsCG (p.Arg419=) c.1096_1097delinsCG (p.Arg366=) n.431_432delinsCG n.272_273delinsCG c.1249_1250delinsCG (p.Arg417=) | |
6 | g.35503627G>A | CA363779166 | TULP1 | c.1255C>T (p.Arg419Trp) c.1096C>T (p.Arg366Trp) n.431C>T n.272C>T c.1249C>T (p.Arg417Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35503627G>C | CA363779167 | TULP1 | c.1255C>G (p.Arg419Gly) c.1096C>G (p.Arg366Gly) n.431C>G n.272C>G c.1249C>G (p.Arg417Gly) | gnomAD v4 |
6 | g.35503627G= | CA1620921939 | TULP1 | c.1255C= (p.Arg419=) c.1096C= (p.Arg366=) n.431C= n.272C= c.1249C= (p.Arg417=) | |
6 | g.35503627G>T | CA3772612 | TULP1 | c.1255C>A (p.Arg419=) c.1096C>A (p.Arg366=) n.431C>A n.272C>A c.1249C>A (p.Arg417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35503631dup | CA2678414947 | TULP1 | c.1255dup (p.Arg419ProfsTer25) c.1096dup (p.Arg366ProfsTer25) n.431dup n.272dup c.1249dup (p.Arg417ProfsTer25) | gnomAD v4 |
6 | g.35503631del | CA566703208 | TULP1 | c.1255del (p.Arg419GlyfsTer3) c.1096del (p.Arg366GlyfsTer3) n.431del n.272del c.1249del (p.Arg417GlyfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35503628G>A | CA3772613 | TULP1 | c.1254C>T (p.Pro418=) c.1095C>T (p.Pro365=) n.430C>T n.271C>T c.1248C>T (p.Pro416=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35503628G>C | CA449942754 | TULP1 | c.1254C>G (p.Pro418=) c.1095C>G (p.Pro365=) n.430C>G n.271C>G c.1248C>G (p.Pro416=) | |
6 | g.35503628G= | CA1620921941 | TULP1 | c.1254C= (p.Pro418=) c.1095C= (p.Pro365=) n.430C= n.271C= c.1248C= (p.Pro416=) | |
6 | g.35503628G>T | CA449942755 | TULP1 | c.1254C>A (p.Pro418=) c.1095C>A (p.Pro365=) n.430C>A n.271C>A c.1248C>A (p.Pro416=) | gnomAD v4 |
6 | g.35503629G>A | CA363779168 | TULP1 | c.1253C>T (p.Pro418Leu) c.1094C>T (p.Pro365Leu) n.429C>T n.270C>T c.1247C>T (p.Pro416Leu) | |
6 | g.35503629G>C | CA363779169 | TULP1 | c.1253C>G (p.Pro418Arg) c.1094C>G (p.Pro365Arg) n.429C>G n.270C>G c.1247C>G (p.Pro416Arg) | |
6 | g.35503629G>T | CA363779170 | TULP1 | c.1253C>A (p.Pro418His) c.1094C>A (p.Pro365His) n.429C>A n.270C>A c.1247C>A (p.Pro416His) | gnomAD v4 |
6 | g.35503630G>A | CA363779171 | TULP1 | c.1252C>T (p.Pro418Ser) c.1093C>T (p.Pro365Ser) n.428C>T n.269C>T c.1246C>T (p.Pro416Ser) | gnomAD v4 |
6 | g.35503630G>C | CA363779172 | TULP1 | c.1252C>G (p.Pro418Ala) c.1093C>G (p.Pro365Ala) n.428C>G n.269C>G c.1246C>G (p.Pro416Ala) | gnomAD v4 |
6 | g.35503630G>T | CA363779173 | TULP1 | c.1252C>A (p.Pro418Thr) c.1093C>A (p.Pro365Thr) n.428C>A n.269C>A c.1246C>A (p.Pro416Thr) | gnomAD v4 |
6 | g.35503631G>A | CA449942760 | TULP1 | c.1251C>T (p.Gly417=) c.1092C>T (p.Gly364=) n.427C>T n.268C>T c.1245C>T (p.Gly415=) | gnomAD v4 |
6 | g.35503631G>C | CA449942761 | TULP1 | c.1251C>G (p.Gly417=) c.1092C>G (p.Gly364=) n.427C>G n.268C>G c.1245C>G (p.Gly415=) | ClinVar |
6 | g.35503631G= | CA1620921944 | TULP1 | c.1251C= (p.Gly417=) c.1092C= (p.Gly364=) n.427C= n.268C= c.1245C= (p.Gly415=) | |
6 | g.35503631G>T | CA449942759 | TULP1 | c.1251C>A (p.Gly417=) c.1092C>A (p.Gly364=) n.427C>A n.268C>A c.1245C>A (p.Gly415=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35503632C>A | CA363779174 | TULP1 | c.1250G>T (p.Gly417Val) c.1091G>T (p.Gly364Val) n.426G>T n.267G>T c.1244G>T (p.Gly415Val) | gnomAD v4 |
6 | g.35503632C>G | CA363779175 | TULP1 | c.1250G>C (p.Gly417Ala) c.1091G>C (p.Gly364Ala) n.426G>C n.267G>C c.1244G>C (p.Gly415Ala) | |
6 | g.35503632C>T | CA363779176 | TULP1 | c.1250G>A (p.Gly417Asp) c.1091G>A (p.Gly364Asp) n.426G>A n.267G>A c.1244G>A (p.Gly415Asp) | gnomAD v4 |
6 | g.35503633dup | CA824216291 | TULP1 | c.1250dup (p.Arg419ProfsTer25) c.1091dup (p.Arg366ProfsTer25) n.426dup n.267dup c.1244dup (p.Arg417ProfsTer25) | dbSNP |
6 | g.35503633del | CA2678414949 | TULP1 | c.1250del (p.Gly417AlafsTer5) c.1091del (p.Gly364AlafsTer5) n.426del n.267del c.1244del (p.Gly415AlafsTer5) | gnomAD v4 |
6 | g.35503633C>A | CA363779177 | TULP1 | c.1249G>T (p.Gly417Cys) c.1090G>T (p.Gly364Cys) n.425G>T n.266G>T c.1243G>T (p.Gly415Cys) | gnomAD v4 |
6 | g.35503633C= | CA1620921950 | TULP1 | c.1249G= (p.Gly417=) c.1090G= (p.Gly364=) n.425G= n.266G= c.1243G= (p.Gly415=) | |
6 | g.35503633C>G | CA363779178 | TULP1 | c.1249G>C (p.Gly417Arg) c.1090G>C (p.Gly364Arg) n.425G>C n.266G>C c.1243G>C (p.Gly415Arg) | COSMIC |
6 | g.35503633C>T | CA137281055 | TULP1 | c.1249G>A (p.Gly417Ser) c.1090G>A (p.Gly364Ser) n.425G>A n.266G>A c.1243G>A (p.Gly415Ser) | dbSNP gnomAD v4 |
6 | g.35503634A= | CA1620921952 | TULP1 | c.1248T= (p.Arg416=) c.1089T= (p.Arg363=) n.424T= n.265T= c.1242T= (p.Arg414=) | |
6 | g.35503634A>C | CA449942765 | TULP1 | c.1248T>G (p.Arg416=) c.1089T>G (p.Arg363=) n.424T>G n.265T>G c.1242T>G (p.Arg414=) | |
6 | g.35503634A>G | CA137281059 | TULP1 | c.1248T>C (p.Arg416=) c.1089T>C (p.Arg363=) n.424T>C n.265T>C c.1242T>C (p.Arg414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35503634A>T | CA449942764 | TULP1 | c.1248T>A (p.Arg416=) c.1089T>A (p.Arg363=) n.424T>A n.265T>A c.1242T>A (p.Arg414=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35503635C>A | CA363779179 | TULP1 | c.1247G>T (p.Arg416Leu) c.1088G>T (p.Arg363Leu) n.423G>T n.264G>T c.1241G>T (p.Arg414Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.35503635C= | CA1620921961 | TULP1 | c.1247G= (p.Arg416=) c.1088G= (p.Arg363=) n.423G= n.264G= c.1241G= (p.Arg414=) | |
6 | g.35503635C>G | CA363779180 | TULP1 | c.1247G>C (p.Arg416Pro) c.1088G>C (p.Arg363Pro) n.423G>C n.264G>C c.1241G>C (p.Arg414Pro) | |
6 | g.35503635C>T | CA3772614 | TULP1 | c.1247G>A (p.Arg416His) c.1088G>A (p.Arg363His) n.423G>A n.264G>A c.1241G>A (p.Arg414His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35503636G>A | CA3772615 | TULP1 | c.1246C>T (p.Arg416Cys) c.1087C>T (p.Arg363Cys) n.422C>T n.263C>T c.1240C>T (p.Arg414Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35503636G>C | CA363779181 | TULP1 | c.1246C>G (p.Arg416Gly) c.1087C>G (p.Arg363Gly) n.422C>G n.263C>G c.1240C>G (p.Arg414Gly) | |
6 | g.35503636G= | CA1620921967 | TULP1 | c.1246C= (p.Arg416=) c.1087C= (p.Arg363=) n.422C= n.263C= c.1240C= (p.Arg414=) | |
6 | g.35503636G>T | CA363779182 | TULP1 | c.1246C>A (p.Arg416Ser) c.1087C>A (p.Arg363Ser) n.422C>A n.263C>A c.1240C>A (p.Arg414Ser) | gnomAD v4 |
6 | g.35503637G>A | CA137281080 | TULP1 | c.1245C>T (p.Phe415=) c.1086C>T (p.Phe362=) n.421C>T n.262C>T c.1239C>T (p.Phe413=) | ClinVar dbSNP gnomAD v4 |
6 | g.35503637G>C | CA363779183 | TULP1 | c.1245C>G (p.Phe415Leu) c.1086C>G (p.Phe362Leu) n.421C>G n.262C>G c.1239C>G (p.Phe413Leu) | |
6 | g.35503637G= | CA1620921973 | TULP1 | c.1245C= (p.Phe415=) c.1086C= (p.Phe362=) n.421C= n.262C= c.1239C= (p.Phe413=) | |
6 | g.35503637G>T | CA363779184 | TULP1 | c.1245C>A (p.Phe415Leu) c.1086C>A (p.Phe362Leu) n.421C>A n.262C>A c.1239C>A (p.Phe413Leu) | gnomAD v4 |