UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.137638979G>A | CA129795 | KLHL3 | c.1193C>T (p.Ala398Val) n.780C>T c.*335-10542C>T (n.*335-10542C>T) c.1073C>T (p.Ala358Val) c.947C>T (p.Ala316Val) n.818C>T c.1097C>T (p.Ala366Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.137638979G>C | CA361047852 | KLHL3 | c.1193C>G (p.Ala398Gly) n.780C>G c.*335-10542C>G (n.*335-10542C>G) c.1073C>G (p.Ala358Gly) c.947C>G (p.Ala316Gly) n.818C>G c.1097C>G (p.Ala366Gly) | |
| 5 | g.137638979G= | CA1585515938 | KLHL3 | c.1193C= (p.Ala398=) n.780C= c.*335-10542C= (n.*335-10542C=) c.1073C= (p.Ala358=) c.947C= (p.Ala316=) n.818C= c.1097C= (p.Ala366=) | |
| 5 | g.137638979G>T | CA361047851 | KLHL3 | c.1193C>A (p.Ala398Glu) n.780C>A c.*335-10542C>A (n.*335-10542C>A) c.1073C>A (p.Ala358Glu) c.947C>A (p.Ala316Glu) n.818C>A c.1097C>A (p.Ala366Glu) | |
| 5 | g.137638980C>A | CA361047853 | KLHL3 | c.1192G>T (p.Ala398Ser) n.779G>T c.*335-10543G>T (n.*335-10543G>T) c.1072G>T (p.Ala358Ser) c.946G>T (p.Ala316Ser) n.817G>T c.1096G>T (p.Ala366Ser) | |
| 5 | g.137638980C= | CA1585515939 | KLHL3 | c.1192G= (p.Ala398=) n.779G= c.*335-10543G= (n.*335-10543G=) c.1072G= (p.Ala358=) c.946G= (p.Ala316=) n.817G= c.1096G= (p.Ala366=) | |
| 5 | g.137638980C>G | CA361047854 | KLHL3 | c.1192G>C (p.Ala398Pro) n.779G>C c.*335-10543G>C (n.*335-10543G>C) c.1072G>C (p.Ala358Pro) c.946G>C (p.Ala316Pro) n.817G>C c.1096G>C (p.Ala366Pro) | |
| 5 | g.137638980C>T | CA128103805 | KLHL3 | c.1192G>A (p.Ala398Thr) n.779G>A c.*335-10543G>A (n.*335-10543G>A) c.1072G>A (p.Ala358Thr) c.946G>A (p.Ala316Thr) n.817G>A c.1096G>A (p.Ala366Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.137638981G>A | CA3422277 | KLHL3 | c.1191C>T (p.Tyr397=) n.778C>T c.*335-10544C>T (n.*335-10544C>T) c.1071C>T (p.Tyr357=) c.945C>T (p.Tyr315=) n.816C>T c.1095C>T (p.Tyr365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.137638981G>C | CA361047855 | KLHL3 | c.1191C>G (p.Tyr397Ter) n.778C>G c.*335-10544C>G (n.*335-10544C>G) c.1071C>G (p.Tyr357Ter) c.945C>G (p.Tyr315Ter) n.816C>G c.1095C>G (p.Tyr365Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.137638981G= | CA1585515940 | KLHL3 | c.1191C= (p.Tyr397=) n.778C= c.*335-10544C= (n.*335-10544C=) c.1071C= (p.Tyr357=) c.945C= (p.Tyr315=) n.816C= c.1095C= (p.Tyr365=) | |
| 5 | g.137638981G>T | CA361047856 | KLHL3 | c.1191C>A (p.Tyr397Ter) n.778C>A c.*335-10544C>A (n.*335-10544C>A) c.1071C>A (p.Tyr357Ter) c.945C>A (p.Tyr315Ter) n.816C>A c.1095C>A (p.Tyr365Ter) | |
| 5 | g.137638982T>A | CA361047857 | KLHL3 | c.1190A>T (p.Tyr397Phe) n.777A>T c.*335-10545A>T (n.*335-10545A>T) c.1070A>T (p.Tyr357Phe) c.944A>T (p.Tyr315Phe) n.815A>T c.1094A>T (p.Tyr365Phe) | |
| 5 | g.137638982T>C | CA361047858 | KLHL3 | c.1190A>G (p.Tyr397Cys) n.777A>G c.*335-10545A>G (n.*335-10545A>G) c.1070A>G (p.Tyr357Cys) c.944A>G (p.Tyr315Cys) n.815A>G c.1094A>G (p.Tyr365Cys) | |
| 5 | g.137638982T>G | CA361047859 | KLHL3 | c.1190A>C (p.Tyr397Ser) n.777A>C c.*335-10545A>C (n.*335-10545A>C) c.1070A>C (p.Tyr357Ser) c.944A>C (p.Tyr315Ser) n.815A>C c.1094A>C (p.Tyr365Ser) | |
| 5 | g.137638983A>C | CA361047860 | KLHL3 | c.1189T>G (p.Tyr397Asp) n.776T>G c.*335-10546T>G (n.*335-10546T>G) c.1069T>G (p.Tyr357Asp) c.943T>G (p.Tyr315Asp) n.814T>G c.1093T>G (p.Tyr365Asp) | |
| 5 | g.137638983A>G | CA361047861 | KLHL3 | c.1189T>C (p.Tyr397His) n.776T>C c.*335-10546T>C (n.*335-10546T>C) c.1069T>C (p.Tyr357His) c.943T>C (p.Tyr315His) n.814T>C c.1093T>C (p.Tyr365His) | |
| 5 | g.137638983A>T | CA361047862 | KLHL3 | c.1189T>A (p.Tyr397Asn) n.776T>A c.*335-10546T>A (n.*335-10546T>A) c.1069T>A (p.Tyr357Asn) c.943T>A (p.Tyr315Asn) n.814T>A c.1093T>A (p.Tyr365Asn) | |
| 5 | g.137638984G>A | CA446560974 | KLHL3 | c.1188C>T (p.Leu396=) n.775C>T c.*335-10547C>T (n.*335-10547C>T) c.1068C>T (p.Leu356=) c.942C>T (p.Leu314=) n.813C>T c.1092C>T (p.Leu364=) | gnomAD v4 |
| 5 | g.137638984G>C | CA446560973 | KLHL3 | c.1188C>G (p.Leu396=) n.775C>G c.*335-10547C>G (n.*335-10547C>G) c.1068C>G (p.Leu356=) c.942C>G (p.Leu314=) n.813C>G c.1092C>G (p.Leu364=) | gnomAD v4 |
| 5 | g.137638984G>T | CA446560972 | KLHL3 | c.1188C>A (p.Leu396=) n.775C>A c.*335-10547C>A (n.*335-10547C>A) c.1068C>A (p.Leu356=) c.942C>A (p.Leu314=) n.813C>A c.1092C>A (p.Leu364=) | |
| 5 | g.137638985A>C | CA361047865 | KLHL3 | c.1187T>G (p.Leu396Arg) n.774T>G c.*335-10548T>G (n.*335-10548T>G) c.1067T>G (p.Leu356Arg) c.941T>G (p.Leu314Arg) n.812T>G c.1091T>G (p.Leu364Arg) | |
| 5 | g.137638985A>G | CA361047864 | KLHL3 | c.1187T>C (p.Leu396Pro) n.774T>C c.*335-10548T>C (n.*335-10548T>C) c.1067T>C (p.Leu356Pro) c.941T>C (p.Leu314Pro) n.812T>C c.1091T>C (p.Leu364Pro) | |
| 5 | g.137638985A>T | CA361047863 | KLHL3 | c.1187T>A (p.Leu396His) n.774T>A c.*335-10548T>A (n.*335-10548T>A) c.1067T>A (p.Leu356His) c.941T>A (p.Leu314His) n.812T>A c.1091T>A (p.Leu364His) | |
| 5 | g.137638986G>A | CA361047866 | KLHL3 | c.1186C>T (p.Leu396Phe) n.773C>T c.*335-10549C>T (n.*335-10549C>T) c.1066C>T (p.Leu356Phe) c.940C>T (p.Leu314Phe) n.811C>T c.1090C>T (p.Leu364Phe) | COSMIC |
| 5 | g.137638986G>C | CA361047867 | KLHL3 | c.1186C>G (p.Leu396Val) n.773C>G c.*335-10549C>G (n.*335-10549C>G) c.1066C>G (p.Leu356Val) c.940C>G (p.Leu314Val) n.811C>G c.1090C>G (p.Leu364Val) | gnomAD v4 |
| 5 | g.137638986G>T | CA361047868 | KLHL3 | c.1186C>A (p.Leu396Ile) n.773C>A c.*335-10549C>A (n.*335-10549C>A) c.1066C>A (p.Leu356Ile) c.940C>A (p.Leu314Ile) n.811C>A c.1090C>A (p.Leu364Ile) | |
| 5 | g.137638987C>A | CA361047869 | KLHL3 | c.1185G>T (p.Leu395Phe) n.772G>T c.*335-10550G>T (n.*335-10550G>T) c.1065G>T (p.Leu355Phe) c.939G>T (p.Leu313Phe) n.810G>T c.1089G>T (p.Leu363Phe) | |
| 5 | g.137638987C>G | CA361047870 | KLHL3 | c.1185G>C (p.Leu395Phe) n.772G>C c.*335-10550G>C (n.*335-10550G>C) c.1065G>C (p.Leu355Phe) c.939G>C (p.Leu313Phe) n.810G>C c.1089G>C (p.Leu363Phe) | |
| 5 | g.137638987C>T | CA446560975 | KLHL3 | c.1185G>A (p.Leu395=) n.772G>A c.*335-10550G>A (n.*335-10550G>A) c.1065G>A (p.Leu355=) c.939G>A (p.Leu313=) n.810G>A c.1089G>A (p.Leu363=) | |
| 5 | g.137638988A>C | CA361047871 | KLHL3 | c.1184T>G (p.Leu395Trp) n.771T>G c.*335-10551T>G (n.*335-10551T>G) c.1064T>G (p.Leu355Trp) c.938T>G (p.Leu313Trp) n.809T>G c.1088T>G (p.Leu363Trp) | |
| 5 | g.137638988A>G | CA361047872 | KLHL3 | c.1184T>C (p.Leu395Ser) n.771T>C c.*335-10551T>C (n.*335-10551T>C) c.1064T>C (p.Leu355Ser) c.938T>C (p.Leu313Ser) n.809T>C c.1088T>C (p.Leu363Ser) | |
| 5 | g.137638988A>T | CA361047873 | KLHL3 | c.1184T>A (p.Leu395Ter) n.771T>A c.*335-10551T>A (n.*335-10551T>A) c.1064T>A (p.Leu355Ter) c.938T>A (p.Leu313Ter) n.809T>A c.1088T>A (p.Leu363Ter) | |
| 5 | g.137638989A>C | CA361047874 | KLHL3 | c.1183T>G (p.Leu395Val) n.770T>G c.*335-10552T>G (n.*335-10552T>G) c.1063T>G (p.Leu355Val) c.937T>G (p.Leu313Val) n.808T>G c.1087T>G (p.Leu363Val) | |
| 5 | g.137638989A>G | CA446560976 | KLHL3 | c.1183T>C (p.Leu395=) n.770T>C c.*335-10552T>C (n.*335-10552T>C) c.1063T>C (p.Leu355=) c.937T>C (p.Leu313=) n.808T>C c.1087T>C (p.Leu363=) | |
| 5 | g.137638989A>T | CA361047875 | KLHL3 | c.1183T>A (p.Leu395Met) n.770T>A c.*335-10552T>A (n.*335-10552T>A) c.1063T>A (p.Leu355Met) c.937T>A (p.Leu313Met) n.808T>A c.1087T>A (p.Leu363Met) | |
| 5 | g.137638990G>A | CA446560979 | KLHL3 | c.1182C>T (p.Asp394=) n.769C>T c.*335-10553C>T (n.*335-10553C>T) c.1062C>T (p.Asp354=) c.936C>T (p.Asp312=) n.807C>T c.1086C>T (p.Asp362=) | gnomAD v4 |
| 5 | g.137638990G>C | CA361047876 | KLHL3 | c.1182C>G (p.Asp394Glu) n.769C>G c.*335-10553C>G (n.*335-10553C>G) c.1062C>G (p.Asp354Glu) c.936C>G (p.Asp312Glu) n.807C>G c.1086C>G (p.Asp362Glu) | gnomAD v4 |
| 5 | g.137638990G>T | CA361047877 | KLHL3 | c.1182C>A (p.Asp394Glu) n.769C>A c.*335-10553C>A (n.*335-10553C>A) c.1062C>A (p.Asp354Glu) c.936C>A (p.Asp312Glu) n.807C>A c.1086C>A (p.Asp362Glu) | gnomAD v4 |
| 5 | g.137638991T>A | CA361047879 | KLHL3 | c.1181A>T (p.Asp394Val) n.768A>T c.*335-10554A>T (n.*335-10554A>T) c.1061A>T (p.Asp354Val) c.935A>T (p.Asp312Val) n.806A>T c.1085A>T (p.Asp362Val) | |
| 5 | g.137638991T>C | CA3422278 | KLHL3 | c.1181A>G (p.Asp394Gly) n.768A>G c.*335-10554A>G (n.*335-10554A>G) c.1061A>G (p.Asp354Gly) c.935A>G (p.Asp312Gly) n.806A>G c.1085A>G (p.Asp362Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137638991T>G | CA361047878 | KLHL3 | c.1181A>C (p.Asp394Ala) n.768A>C c.*335-10554A>C (n.*335-10554A>C) c.1061A>C (p.Asp354Ala) c.935A>C (p.Asp312Ala) n.806A>C c.1085A>C (p.Asp362Ala) | |
| 5 | g.137638991T= | CA1585497498 | KLHL3 | c.1181A= (p.Asp394=) n.768A= c.*335-10554A= (n.*335-10554A=) c.1061A= (p.Asp354=) c.935A= (p.Asp312=) n.806A= c.1085A= (p.Asp362=) | |
| 5 | g.137638992C>A | CA361047880 | KLHL3 | c.1180G>T (p.Asp394Tyr) n.767G>T c.*335-10555G>T (n.*335-10555G>T) c.1060G>T (p.Asp354Tyr) c.934G>T (p.Asp312Tyr) n.805G>T c.1084G>T (p.Asp362Tyr) | |
| 5 | g.137638992C>G | CA361047881 | KLHL3 | c.1180G>C (p.Asp394His) n.767G>C c.*335-10555G>C (n.*335-10555G>C) c.1060G>C (p.Asp354His) c.934G>C (p.Asp312His) n.805G>C c.1084G>C (p.Asp362His) | |
| 5 | g.137638992C>T | CA361047882 | KLHL3 | c.1180G>A (p.Asp394Asn) n.767G>A c.*335-10555G>A (n.*335-10555G>A) c.1060G>A (p.Asp354Asn) c.934G>A (p.Asp312Asn) n.805G>A c.1084G>A (p.Asp362Asn) | |
| 5 | g.137638993A= | CA1585497507 | KLHL3 | c.1179T= (p.Asn393=) n.766T= c.*335-10556T= (n.*335-10556T=) c.1059T= (p.Asn353=) c.933T= (p.Asn311=) n.804T= c.1083T= (p.Asn361=) | |
| 5 | g.137638993A>C | CA361047883 | KLHL3 | c.1179T>G (p.Asn393Lys) n.766T>G c.*335-10556T>G (n.*335-10556T>G) c.1059T>G (p.Asn353Lys) c.933T>G (p.Asn311Lys) n.804T>G c.1083T>G (p.Asn361Lys) | |
| 5 | g.137638993A>G | CA3422279 | KLHL3 | c.1179T>C (p.Asn393=) n.766T>C c.*335-10556T>C (n.*335-10556T>C) c.1059T>C (p.Asn353=) c.933T>C (p.Asn311=) n.804T>C c.1083T>C (p.Asn361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137638993A>T | CA361047884 | KLHL3 | c.1179T>A (p.Asn393Lys) n.766T>A c.*335-10556T>A (n.*335-10556T>A) c.1059T>A (p.Asn353Lys) c.933T>A (p.Asn311Lys) n.804T>A c.1083T>A (p.Asn361Lys) |