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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.57565371C>A | CA409437162 | PCK1 | c.1436C>A (p.Pro479His) n.4078C>A n.560C>A c.1040C>A (p.Pro347His) | |
| 20 | g.57565371C= | CA2371897544 | PCK1 | c.1436C= (p.Pro479=) n.4078C= n.560C= c.1040C= (p.Pro347=) | |
| 20 | g.57565371C>G | CA409437161 | PCK1 | c.1436C>G (p.Pro479Arg) n.4078C>G n.560C>G c.1040C>G (p.Pro347Arg) | |
| 20 | g.57565371C>T | CA9922401 | PCK1 | c.1436C>T (p.Pro479Leu) n.4078C>T n.560C>T c.1040C>T (p.Pro347Leu) | dbSNP ExAC gnomAD v2 |
| 20 | g.57565372C>A | CA511310954 | PCK1 | c.1437C>A (p.Pro479=) n.4079C>A n.561C>A c.1041C>A (p.Pro347=) | dbSNP gnomAD v4 |
| 20 | g.57565372C>G | CA511310955 | PCK1 | c.1437C>G (p.Pro479=) n.4079C>G n.561C>G c.1041C>G (p.Pro347=) | gnomAD v4 |
| 20 | g.57565372C>T | CA511310956 | PCK1 | c.1437C>T (p.Pro479=) n.4079C>T n.561C>T c.1041C>T (p.Pro347=) | gnomAD v4 COSMIC |
| 20 | g.57565373T>A | CA409437163 | PCK1 | c.1438T>A (p.Phe480Ile) n.4080T>A n.562T>A c.1042T>A (p.Phe348Ile) | |
| 20 | g.57565373T>C | CA409437164 | PCK1 | c.1438T>C (p.Phe480Leu) n.4080T>C n.562T>C c.1042T>C (p.Phe348Leu) | |
| 20 | g.57565373T>G | CA409437165 | PCK1 | c.1438T>G (p.Phe480Val) n.4080T>G n.562T>G c.1042T>G (p.Phe348Val) | |
| 20 | g.57565374T>A | CA409437166 | PCK1 | c.1439T>A (p.Phe480Tyr) n.4081T>A n.563T>A c.1043T>A (p.Phe348Tyr) | |
| 20 | g.57565374T>C | CA409437167 | PCK1 | c.1439T>C (p.Phe480Ser) n.4081T>C n.563T>C c.1043T>C (p.Phe348Ser) | |
| 20 | g.57565374T>G | CA409437168 | PCK1 | c.1439T>G (p.Phe480Cys) n.4081T>G n.563T>G c.1043T>G (p.Phe348Cys) | gnomAD v4 |
| 20 | g.57565375T>A | CA409437169 | PCK1 | c.1440T>A (p.Phe480Leu) n.4082T>A n.564T>A c.1044T>A (p.Phe348Leu) | |
| 20 | g.57565375T>C | CA511310957 | PCK1 | c.1440T>C (p.Phe480=) n.4082T>C n.564T>C c.1044T>C (p.Phe348=) | |
| 20 | g.57565375T>G | CA409437170 | PCK1 | c.1440T>G (p.Phe480Leu) n.4082T>G n.564T>G c.1044T>G (p.Phe348Leu) | |
| 20 | g.57565376G>A | CA409437171 | PCK1 | c.1441G>A (p.Ala481Thr) n.4083G>A n.565G>A c.1045G>A (p.Ala349Thr) | |
| 20 | g.57565376G>C | CA409437172 | PCK1 | c.1441G>C (p.Ala481Pro) n.4083G>C n.565G>C c.1045G>C (p.Ala349Pro) | |
| 20 | g.57565376G>T | CA409437173 | PCK1 | c.1441G>T (p.Ala481Ser) n.4083G>T n.565G>T c.1045G>T (p.Ala349Ser) | |
| 20 | g.57565377C>A | CA409437174 | PCK1 | c.1442C>A (p.Ala481Asp) n.4084C>A n.566C>A c.1046C>A (p.Ala349Asp) | |
| 20 | g.57565377C>G | CA409437175 | PCK1 | c.1442C>G (p.Ala481Gly) n.4084C>G n.566C>G c.1046C>G (p.Ala349Gly) | |
| 20 | g.57565377C>T | CA409437176 | PCK1 | c.1442C>T (p.Ala481Val) n.4084C>T n.566C>T c.1046C>T (p.Ala349Val) | dbSNP gnomAD v4 |
| 20 | g.57565378C>A | CA511310958 | PCK1 | c.1443C>A (p.Ala481=) n.4085C>A n.567C>A c.1047C>A (p.Ala349=) | |
| 20 | g.57565378C= | CA2371897545 | PCK1 | c.1443C= (p.Ala481=) n.4085C= n.567C= c.1047C= (p.Ala349=) | |
| 20 | g.57565378C>G | CA511310959 | PCK1 | c.1443C>G (p.Ala481=) n.4085C>G n.567C>G c.1047C>G (p.Ala349=) | |
| 20 | g.57565378C>T | CA316282108 | PCK1 | c.1443C>T (p.Ala481=) n.4085C>T n.567C>T c.1047C>T (p.Ala349=) | dbSNP COSMIC |
| 20 | g.57565379A>C | CA409437178 | PCK1 | c.1444A>C (p.Met482Leu) n.4086A>C n.568A>C c.1048A>C (p.Met350Leu) | |
| 20 | g.57565379A>G | CA409437179 | PCK1 | c.1444A>G (p.Met482Val) n.4086A>G n.568A>G c.1048A>G (p.Met350Val) | gnomAD v4 |
| 20 | g.57565379A>T | CA409437177 | PCK1 | c.1444A>T (p.Met482Leu) n.4086A>T n.568A>T c.1048A>T (p.Met350Leu) | gnomAD v4 |
| 20 | g.57565380T>A | CA409437180 | PCK1 | c.1445T>A (p.Met482Lys) n.4087T>A n.569T>A c.1049T>A (p.Met350Lys) | |
| 20 | g.57565380T>C | CA409437181 | PCK1 | c.1445T>C (p.Met482Thr) n.4087T>C n.569T>C c.1049T>C (p.Met350Thr) | |
| 20 | g.57565380T>G | CA409437182 | PCK1 | c.1445T>G (p.Met482Arg) n.4087T>G n.569T>G c.1049T>G (p.Met350Arg) | gnomAD v4 |
| 20 | g.57565381G>A | CA409437183 | PCK1 | c.1446G>A (p.Met482Ile) n.4088G>A n.570G>A c.1050G>A (p.Met350Ile) | |
| 20 | g.57565381G>C | CA409437184 | PCK1 | c.1446G>C (p.Met482Ile) n.4088G>C n.570G>C c.1050G>C (p.Met350Ile) | |
| 20 | g.57565381G>T | CA409437185 | PCK1 | c.1446G>T (p.Met482Ile) n.4088G>T n.570G>T c.1050G>T (p.Met350Ile) | |
| 20 | g.57565382C>A | CA511310960 | PCK1 | c.1447C>A (p.Arg483=) n.4089C>A n.571C>A c.1051C>A (p.Arg351=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565382C= | CA2371897546 | PCK1 | c.1447C= (p.Arg483=) n.4089C= n.571C= c.1051C= (p.Arg351=) | |
| 20 | g.57565382C>G | CA409437186 | PCK1 | c.1447C>G (p.Arg483Gly) n.4089C>G n.571C>G c.1051C>G (p.Arg351Gly) | |
| 20 | g.57565382C>T | CA9922402 | PCK1 | c.1447C>T (p.Arg483Trp) n.4089C>T n.571C>T c.1051C>T (p.Arg351Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565383G>A | CA9922403 | PCK1 | c.1448G>A (p.Arg483Gln) n.4090G>A n.572G>A c.1052G>A (p.Arg351Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565383G>C | CA409437187 | PCK1 | c.1448G>C (p.Arg483Pro) n.4090G>C n.572G>C c.1052G>C (p.Arg351Pro) | gnomAD v4 |
| 20 | g.57565383G= | CA2371897547 | PCK1 | c.1448G= (p.Arg483=) n.4090G= n.572G= c.1052G= (p.Arg351=) | |
| 20 | g.57565383G>T | CA409437188 | PCK1 | c.1448G>T (p.Arg483Leu) n.4090G>T n.572G>T c.1052G>T (p.Arg351Leu) | |
| 20 | g.57565384G>A | CA511310961 | PCK1 | c.1449G>A (p.Arg483=) n.4091G>A n.573G>A c.1053G>A (p.Arg351=) | gnomAD v4 |
| 20 | g.57565384G>C | CA511310962 | PCK1 | c.1449G>C (p.Arg483=) n.4091G>C n.573G>C c.1053G>C (p.Arg351=) | |
| 20 | g.57565384G>T | CA511310963 | PCK1 | c.1449G>T (p.Arg483=) n.4091G>T n.573G>T c.1053G>T (p.Arg351=) | COSMIC |
| 20 | g.57565385C>A | CA9922404 | PCK1 | c.1450C>A (p.Pro484Thr) n.4092C>A n.574C>A c.1054C>A (p.Pro352Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565385C= | CA2371897548 | PCK1 | c.1450C= (p.Pro484=) n.4092C= n.574C= c.1054C= (p.Pro352=) | |
| 20 | g.57565385C>G | CA409437189 | PCK1 | c.1450C>G (p.Pro484Ala) n.4092C>G n.574C>G c.1054C>G (p.Pro352Ala) | |
| 20 | g.57565385C>T | CA409437190 | PCK1 | c.1450C>T (p.Pro484Ser) n.4092C>T n.574C>T c.1054C>T (p.Pro352Ser) | |
| 20 | g.57565386C>A | CA409437191 | PCK1 | c.1451C>A (p.Pro484His) n.4093C>A n.575C>A c.1055C>A (p.Pro352His) | dbSNP |
| 20 | g.57565386C>G | CA409437193 | PCK1 | c.1451C>G (p.Pro484Arg) n.4093C>G n.575C>G c.1055C>G (p.Pro352Arg) | |
| 20 | g.57565386C>T | CA409437192 | PCK1 | c.1451C>T (p.Pro484Leu) n.4093C>T n.575C>T c.1055C>T (p.Pro352Leu) | |
| 20 | g.57565387C>A | CA511310964 | PCK1 | c.1452C>A (p.Pro484=) n.4094C>A n.576C>A c.1056C>A (p.Pro352=) | dbSNP |
| 20 | g.57565387C= | CA2371897549 | PCK1 | c.1452C= (p.Pro484=) n.4094C= n.576C= c.1056C= (p.Pro352=) | |
| 20 | g.57565387C>G | CA511310965 | PCK1 | c.1452C>G (p.Pro484=) n.4094C>G n.576C>G c.1056C>G (p.Pro352=) | |
| 20 | g.57565387C>T | CA511310966 | PCK1 | c.1452C>T (p.Pro484=) n.4094C>T n.576C>T c.1056C>T (p.Pro352=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565388T>A | CA9922405 | PCK1 | c.1453T>A (p.Phe485Ile) n.4095T>A n.577T>A c.1057T>A (p.Phe353Ile) | dbSNP ExAC gnomAD v2 |
| 20 | g.57565388T>C | CA409437194 | PCK1 | c.1453T>C (p.Phe485Leu) n.4095T>C n.577T>C c.1057T>C (p.Phe353Leu) | |
| 20 | g.57565388T>G | CA409437195 | PCK1 | c.1453T>G (p.Phe485Val) n.4095T>G n.577T>G c.1057T>G (p.Phe353Val) | |
| 20 | g.57565388T= | CA2371897550 | PCK1 | c.1453T= (p.Phe485=) n.4095T= n.577T= c.1057T= (p.Phe353=) | |
| 20 | g.57565389T>A | CA409437196 | PCK1 | c.1454T>A (p.Phe485Tyr) n.4096T>A n.578T>A c.1058T>A (p.Phe353Tyr) | |
| 20 | g.57565389T>C | CA409437197 | PCK1 | c.1454T>C (p.Phe485Ser) n.4096T>C n.578T>C c.1058T>C (p.Phe353Ser) | |
| 20 | g.57565389T>G | CA409437198 | PCK1 | c.1454T>G (p.Phe485Cys) n.4096T>G n.578T>G c.1058T>G (p.Phe353Cys) | |
| 20 | g.57565390C>A | CA409437199 | PCK1 | c.1455C>A (p.Phe485Leu) n.4097C>A n.579C>A c.1059C>A (p.Phe353Leu) | |
| 20 | g.57565390C>G | CA409437200 | PCK1 | c.1455C>G (p.Phe485Leu) n.4097C>G n.579C>G c.1059C>G (p.Phe353Leu) | gnomAD v4 |
| 20 | g.57565390C>T | CA511310967 | PCK1 | c.1455C>T (p.Phe485=) n.4097C>T n.579C>T c.1059C>T (p.Phe353=) | |
| 20 | g.57565391T>A | CA409437201 | PCK1 | c.1456T>A (p.Phe486Ile) n.4098T>A n.580T>A c.1060T>A (p.Phe354Ile) | |
| 20 | g.57565391T>C | CA409437202 | PCK1 | c.1456T>C (p.Phe486Leu) n.4098T>C n.580T>C c.1060T>C (p.Phe354Leu) | dbSNP |
| 20 | g.57565391T>G | CA409437203 | PCK1 | c.1456T>G (p.Phe486Val) n.4098T>G n.580T>G c.1060T>G (p.Phe354Val) | |
| 20 | g.57565392T>A | CA409437205 | PCK1 | c.1457T>A (p.Phe486Tyr) n.4099T>A n.581T>A c.1061T>A (p.Phe354Tyr) | |
| 20 | g.57565392T>C | CA409437206 | PCK1 | c.1457T>C (p.Phe486Ser) n.4099T>C n.581T>C c.1061T>C (p.Phe354Ser) | gnomAD v4 |
| 20 | g.57565392T>G | CA409437204 | PCK1 | c.1457T>G (p.Phe486Cys) n.4099T>G n.581T>G c.1061T>G (p.Phe354Cys) | |
| 20 | g.57565393T>A | CA409437207 | PCK1 | c.1458T>A (p.Phe486Leu) n.4100T>A c.1062T>A (p.Phe354Leu) | |
| 20 | g.57565393T>C | CA511310968 | PCK1 | c.1458T>C (p.Phe486=) n.4100T>C c.1062T>C (p.Phe354=) | |
| 20 | g.57565393T>G | CA409437208 | PCK1 | c.1458T>G (p.Phe486Leu) n.4100T>G c.1062T>G (p.Phe354Leu) | gnomAD v4 |
| 20 | g.57565394G>A | CA409437209 | PCK1 | c.1459G>A (p.Gly487Ser) n.4101G>A c.1063G>A (p.Gly355Ser) | gnomAD v4 |
| 20 | g.57565394G>C | CA409437210 | PCK1 | c.1459G>C (p.Gly487Arg) n.4101G>C c.1063G>C (p.Gly355Arg) | |
| 20 | g.57565394G>T | CA409437211 | PCK1 | c.1459G>T (p.Gly487Cys) n.4101G>T c.1063G>T (p.Gly355Cys) | |
| 20 | g.57565395G>A | CA409437212 | PCK1 | c.1460G>A (p.Gly487Asp) n.4102G>A c.1064G>A (p.Gly355Asp) | dbSNP |
| 20 | g.57565395G>C | CA409437213 | PCK1 | c.1460G>C (p.Gly487Ala) n.4102G>C c.1064G>C (p.Gly355Ala) | |
| 20 | g.57565395G>T | CA409437214 | PCK1 | c.1460G>T (p.Gly487Val) n.4102G>T c.1064G>T (p.Gly355Val) | dbSNP |
| 20 | g.57565396C>A | CA511310969 | PCK1 | c.1461C>A (p.Gly487=) n.4103C>A c.1065C>A (p.Gly355=) | |
| 20 | g.57565396C= | CA2371897551 | PCK1 | c.1461C= (p.Gly487=) n.4103C= c.1065C= (p.Gly355=) | |
| 20 | g.57565396C>G | CA511310971 | PCK1 | c.1461C>G (p.Gly487=) n.4103C>G c.1065C>G (p.Gly355=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565396C>T | CA511310970 | PCK1 | c.1461C>T (p.Gly487=) n.4103C>T c.1065C>T (p.Gly355=) | |
| 20 | g.57565397T>A | CA409437215 | PCK1 | c.1462T>A (p.Tyr488Asn) n.4104T>A c.1066T>A (p.Tyr356Asn) | dbSNP |
| 20 | g.57565397T>C | CA409437216 | PCK1 | c.1462T>C (p.Tyr488His) n.4104T>C c.1066T>C (p.Tyr356His) | |
| 20 | g.57565397T>G | CA409437217 | PCK1 | c.1462T>G (p.Tyr488Asp) n.4104T>G c.1066T>G (p.Tyr356Asp) | |
| 20 | g.57565398A>C | CA409437218 | PCK1 | c.1463A>C (p.Tyr488Ser) n.4105A>C c.1067A>C (p.Tyr356Ser) | |
| 20 | g.57565398A>G | CA409437219 | PCK1 | c.1463A>G (p.Tyr488Cys) n.4105A>G c.1067A>G (p.Tyr356Cys) | |
| 20 | g.57565398A>T | CA409437220 | PCK1 | c.1463A>T (p.Tyr488Phe) n.4105A>T c.1067A>T (p.Tyr356Phe) | |
| 20 | g.57565399C>A | CA409437222 | PCK1 | c.1464C>A (p.Tyr488Ter) n.4106C>A c.1068C>A (p.Tyr356Ter) | |
| 20 | g.57565399C= | CA2371897552 | PCK1 | c.1464C= (p.Tyr488=) n.4106C= c.1068C= (p.Tyr356=) | |
| 20 | g.57565399C>G | CA409437221 | PCK1 | c.1464C>G (p.Tyr488Ter) n.4106C>G c.1068C>G (p.Tyr356Ter) | |
| 20 | g.57565399C>T | CA9922406 | PCK1 | c.1464C>T (p.Tyr488=) n.4106C>T c.1068C>T (p.Tyr356=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565400A>C | CA409437223 | PCK1 | c.1465A>C (p.Asn489His) n.4107A>C c.1069A>C (p.Asn357His) | |
| 20 | g.57565400A>G | CA409437224 | PCK1 | c.1465A>G (p.Asn489Asp) n.4107A>G c.1069A>G (p.Asn357Asp) | gnomAD v4 |
| 20 | g.57565400A>T | CA409437225 | PCK1 | c.1465A>T (p.Asn489Tyr) n.4107A>T c.1069A>T (p.Asn357Tyr) | |
| 20 | g.57565401A= | CA2371897553 | PCK1 | c.1466A= (p.Asn489=) n.4108A= c.1070A= (p.Asn357=) | |
| 20 | g.57565401A>C | CA409437226 | PCK1 | c.1466A>C (p.Asn489Thr) n.4108A>C c.1070A>C (p.Asn357Thr) | |
| 20 | g.57565401A>G | CA9922407 | PCK1 | c.1466A>G (p.Asn489Ser) n.4108A>G c.1070A>G (p.Asn357Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565401A>T | CA409437227 | PCK1 | c.1466A>T (p.Asn489Ile) n.4108A>T c.1070A>T (p.Asn357Ile) | |
| 20 | g.57565402C>A | CA409437228 | PCK1 | c.1467C>A (p.Asn489Lys) n.4109C>A c.1071C>A (p.Asn357Lys) | |
| 20 | g.57565402C>G | CA409437229 | PCK1 | c.1467C>G (p.Asn489Lys) n.4109C>G c.1071C>G (p.Asn357Lys) | |
| 20 | g.57565402C>T | CA511310972 | PCK1 | c.1467C>T (p.Asn489=) n.4109C>T c.1071C>T (p.Asn357=) | |
| 20 | g.57565403T>A | CA409437230 | PCK1 | c.1468T>A (p.Phe490Ile) n.4110T>A c.1072T>A (p.Phe358Ile) | |
| 20 | g.57565403T>C | CA409437231 | PCK1 | c.1468T>C (p.Phe490Leu) n.4110T>C c.1072T>C (p.Phe358Leu) | |
| 20 | g.57565403T>G | CA409437232 | PCK1 | c.1468T>G (p.Phe490Val) n.4110T>G c.1072T>G (p.Phe358Val) | |
| 20 | g.57565404T>A | CA409437233 | PCK1 | c.1469T>A (p.Phe490Tyr) n.4111T>A c.1073T>A (p.Phe358Tyr) | |
| 20 | g.57565404T>C | CA409437234 | PCK1 | c.1469T>C (p.Phe490Ser) n.4111T>C c.1073T>C (p.Phe358Ser) | |
| 20 | g.57565404T>G | CA409437235 | PCK1 | c.1469T>G (p.Phe490Cys) n.4111T>G c.1073T>G (p.Phe358Cys) | |
| 20 | g.57565405C>A | CA409437236 | PCK1 | c.1470C>A (p.Phe490Leu) n.4112C>A c.1074C>A (p.Phe358Leu) | |
| 20 | g.57565405C= | CA2371897554 | PCK1 | c.1470C= (p.Phe490=) n.4112C= c.1074C= (p.Phe358=) | |
| 20 | g.57565405C>G | CA409437237 | PCK1 | c.1470C>G (p.Phe490Leu) n.4112C>G c.1074C>G (p.Phe358Leu) | |
| 20 | g.57565405C>T | CA9922408 | PCK1 | c.1470C>T (p.Phe490=) n.4112C>T c.1074C>T (p.Phe358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565406G>A | CA9922409 | PCK1 | c.1471G>A (p.Gly491Ser) n.4113G>A c.1075G>A (p.Gly359Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565406G>C | CA409437238 | PCK1 | c.1471G>C (p.Gly491Arg) n.4113G>C c.1075G>C (p.Gly359Arg) | dbSNP |
| 20 | g.57565406G= | CA2371897555 | PCK1 | c.1471G= (p.Gly491=) n.4113G= c.1075G= (p.Gly359=) | |
| 20 | g.57565406G>T | CA409437239 | PCK1 | c.1471G>T (p.Gly491Cys) n.4113G>T c.1075G>T (p.Gly359Cys) | |
| 20 | g.57565407G>A | CA409437240 | PCK1 | c.1472G>A (p.Gly491Asp) n.4114G>A c.1076G>A (p.Gly359Asp) | dbSNP |
| 20 | g.57565407G>C | CA409437241 | PCK1 | c.1472G>C (p.Gly491Ala) n.4114G>C c.1076G>C (p.Gly359Ala) | |
| 20 | g.57565407G= | CA2371897556 | PCK1 | c.1472G= (p.Gly491=) n.4114G= c.1076G= (p.Gly359=) | |
| 20 | g.57565407G>T | CA409437242 | PCK1 | c.1472G>T (p.Gly491Val) n.4114G>T c.1076G>T (p.Gly359Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565408C>A | CA511310973 | PCK1 | c.1473C>A (p.Gly491=) n.4115C>A c.1077C>A (p.Gly359=) | |
| 20 | g.57565408C>G | CA511310974 | PCK1 | c.1473C>G (p.Gly491=) n.4115C>G c.1077C>G (p.Gly359=) | |
| 20 | g.57565408C>T | CA511310975 | PCK1 | c.1473C>T (p.Gly491=) n.4115C>T c.1077C>T (p.Gly359=) | dbSNP |
| 20 | g.57565409A>C | CA409437245 | PCK1 | c.1474A>C (p.Lys492Gln) n.4116A>C c.1078A>C (p.Lys360Gln) | |
| 20 | g.57565409A>G | CA409437243 | PCK1 | c.1474A>G (p.Lys492Glu) n.4116A>G c.1078A>G (p.Lys360Glu) | |
| 20 | g.57565409A>T | CA409437244 | PCK1 | c.1474A>T (p.Lys492Ter) n.4116A>T c.1078A>T (p.Lys360Ter) | |
| 20 | g.57565410A>C | CA409437246 | PCK1 | c.1475A>C (p.Lys492Thr) n.4117A>C c.1079A>C (p.Lys360Thr) | |
| 20 | g.57565410A>G | CA409437247 | PCK1 | c.1475A>G (p.Lys492Arg) n.4117A>G c.1079A>G (p.Lys360Arg) | |
| 20 | g.57565410A>T | CA409437248 | PCK1 | c.1475A>T (p.Lys492Ile) n.4117A>T c.1079A>T (p.Lys360Ile) | |
| 20 | g.57565411A>C | CA409437249 | PCK1 | c.1476A>C (p.Lys492Asn) n.4118A>C c.1080A>C (p.Lys360Asn) | |
| 20 | g.57565411A>G | CA511310976 | PCK1 | c.1476A>G (p.Lys492=) n.4118A>G c.1080A>G (p.Lys360=) | |
| 20 | g.57565411A>T | CA409437250 | PCK1 | c.1476A>T (p.Lys492Asn) n.4118A>T c.1080A>T (p.Lys360Asn) | |
| 20 | g.57565412T>A | CA409437251 | PCK1 | c.1477T>A (p.Tyr493Asn) n.4119T>A c.1081T>A (p.Tyr361Asn) | |
| 20 | g.57565412T>C | CA409437253 | PCK1 | c.1477T>C (p.Tyr493His) n.4119T>C c.1081T>C (p.Tyr361His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565412T>G | CA409437252 | PCK1 | c.1477T>G (p.Tyr493Asp) n.4119T>G c.1081T>G (p.Tyr361Asp) | |
| 20 | g.57565412T= | CA2371897557 | PCK1 | c.1477T= (p.Tyr493=) n.4119T= c.1081T= (p.Tyr361=) | |
| 20 | g.57565413A>C | CA409437254 | PCK1 | c.1478A>C (p.Tyr493Ser) n.4120A>C c.1082A>C (p.Tyr361Ser) | |
| 20 | g.57565413A>G | CA409437255 | PCK1 | c.1478A>G (p.Tyr493Cys) n.4120A>G c.1082A>G (p.Tyr361Cys) | |
| 20 | g.57565413A>T | CA409437256 | PCK1 | c.1478A>T (p.Tyr493Phe) n.4120A>T c.1082A>T (p.Tyr361Phe) | |
| 20 | g.57565414C>A | CA409437257 | PCK1 | c.1479C>A (p.Tyr493Ter) n.4121C>A c.1083C>A (p.Tyr361Ter) | |
| 20 | g.57565414C>G | CA409437258 | PCK1 | c.1479C>G (p.Tyr493Ter) n.4121C>G c.1083C>G (p.Tyr361Ter) | |
| 20 | g.57565414C>T | CA511310977 | PCK1 | c.1479C>T (p.Tyr493=) n.4121C>T c.1083C>T (p.Tyr361=) | |
| 20 | g.57565415C>A | CA409437259 | PCK1 | c.1480C>A (p.Leu494Met) n.4122C>A c.1084C>A (p.Leu362Met) | |
| 20 | g.57565415C= | CA2371897558 | PCK1 | c.1480C= (p.Leu494=) n.4122C= c.1084C= (p.Leu362=) | |
| 20 | g.57565415C>G | CA409437260 | PCK1 | c.1480C>G (p.Leu494Val) n.4122C>G c.1084C>G (p.Leu362Val) | |
| 20 | g.57565415C>T | CA511310978 | PCK1 | c.1480C>T (p.Leu494=) n.4122C>T c.1084C>T (p.Leu362=) | dbSNP gnomAD v4 |
| 20 | g.57565416T>A | CA409437261 | PCK1 | c.1481T>A (p.Leu494Gln) n.4123T>A c.1085T>A (p.Leu362Gln) | |
| 20 | g.57565416T>C | CA409437262 | PCK1 | c.1481T>C (p.Leu494Pro) n.4123T>C c.1085T>C (p.Leu362Pro) | |
| 20 | g.57565416T>G | CA409437263 | PCK1 | c.1481T>G (p.Leu494Arg) n.4123T>G c.1085T>G (p.Leu362Arg) | |
| 20 | g.57565417G>A | CA9922410 | PCK1 | c.1482G>A (p.Leu494=) n.4124G>A c.1086G>A (p.Leu362=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565417G>C | CA511310980 | PCK1 | c.1482G>C (p.Leu494=) n.4124G>C c.1086G>C (p.Leu362=) | |
| 20 | g.57565417G= | CA2371897559 | PCK1 | c.1482G= (p.Leu494=) n.4124G= c.1086G= (p.Leu362=) | |
| 20 | g.57565417G>T | CA511310979 | PCK1 | c.1482G>T (p.Leu494=) n.4124G>T c.1086G>T (p.Leu362=) | |
| 20 | g.57565418G>A | CA409437264 | PCK1 | c.1483G>A (p.Ala495Thr) n.4125G>A c.1087G>A (p.Ala363Thr) | COSMIC |
| 20 | g.57565418G>C | CA409437266 | PCK1 | c.1483G>C (p.Ala495Pro) n.4125G>C c.1087G>C (p.Ala363Pro) | |
| 20 | g.57565418G>T | CA409437265 | PCK1 | c.1483G>T (p.Ala495Ser) n.4125G>T c.1087G>T (p.Ala363Ser) | |
| 20 | g.57565419C>A | CA9922411 | PCK1 | c.1484C>A (p.Ala495Asp) n.4126C>A c.1088C>A (p.Ala363Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565419C= | CA2371897560 | PCK1 | c.1484C= (p.Ala495=) n.4126C= c.1088C= (p.Ala363=) | |
| 20 | g.57565419C>G | CA409437267 | PCK1 | c.1484C>G (p.Ala495Gly) n.4126C>G c.1088C>G (p.Ala363Gly) | |
| 20 | g.57565419C>T | CA409437268 | PCK1 | c.1484C>T (p.Ala495Val) n.4126C>T c.1088C>T (p.Ala363Val) | dbSNP |
| 20 | g.57565420C>A | CA511310981 | PCK1 | c.1485C>A (p.Ala495=) n.4127C>A c.1089C>A (p.Ala363=) | |
| 20 | g.57565420C>G | CA511310982 | PCK1 | c.1485C>G (p.Ala495=) n.4127C>G c.1089C>G (p.Ala363=) | |
| 20 | g.57565420C>T | CA511310983 | PCK1 | c.1485C>T (p.Ala495=) n.4127C>T c.1089C>T (p.Ala363=) | dbSNP |
| 20 | g.57565421C>A | CA409437269 | PCK1 | c.1486C>A (p.His496Asn) n.4128C>A c.1090C>A (p.His364Asn) | |
| 20 | g.57565421C>G | CA409437270 | PCK1 | c.1486C>G (p.His496Asp) n.4128C>G c.1090C>G (p.His364Asp) | |
| 20 | g.57565421C>T | CA409437271 | PCK1 | c.1486C>T (p.His496Tyr) n.4128C>T c.1090C>T (p.His364Tyr) | |
| 20 | g.57565422A= | CA2371897561 | PCK1 | c.1487A= (p.His496=) n.4129A= c.1091A= (p.His364=) | |
| 20 | g.57565422A>C | CA409437273 | PCK1 | c.1487A>C (p.His496Pro) n.4129A>C c.1091A>C (p.His364Pro) | |
| 20 | g.57565422A>G | CA9922412 | PCK1 | c.1487A>G (p.His496Arg) n.4129A>G c.1091A>G (p.His364Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565422A>T | CA409437272 | PCK1 | c.1487A>T (p.His496Leu) n.4129A>T c.1091A>T (p.His364Leu) | |
| 20 | g.57565423C>A | CA409437274 | PCK1 | c.1488C>A (p.His496Gln) n.4130C>A c.1092C>A (p.His364Gln) | |
| 20 | g.57565423C= | CA2371897562 | PCK1 | c.1488C= (p.His496=) n.4130C= c.1092C= (p.His364=) | |
| 20 | g.57565423C>G | CA409437275 | PCK1 | c.1488C>G (p.His496Gln) n.4130C>G c.1092C>G (p.His364Gln) | ClinVar dbSNP |
| 20 | g.57565423C>T | CA316282201 | PCK1 | c.1488C>T (p.His496=) n.4130C>T c.1092C>T (p.His364=) | dbSNP |
| 20 | g.57565423_57565424delinsCT | CA2371897563 | PCK1 | c.1488_1489delinsCT (p.His496=) n.4130_4131delinsCT c.1092_1093delinsCT (p.His364=) | |
| 20 | g.57565424del | CA2371897564 | PCK1 | c.1489del (p.Trp497GlyfsTer?) n.4131del c.1093del (p.Trp365GlyfsTer?) | dbSNP |
| 20 | g.57565424T>A | CA409437276 | PCK1 | c.1489T>A (p.Trp497Arg) n.4131T>A c.1093T>A (p.Trp365Arg) | |
| 20 | g.57565424T>C | CA409437277 | PCK1 | c.1489T>C (p.Trp497Arg) n.4131T>C c.1093T>C (p.Trp365Arg) | |
| 20 | g.57565424T>G | CA409437278 | PCK1 | c.1489T>G (p.Trp497Gly) n.4131T>G c.1093T>G (p.Trp365Gly) | |
| 20 | g.57565425G>A | CA409437279 | PCK1 | c.1490G>A (p.Trp497Ter) n.4132G>A c.1094G>A (p.Trp365Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565425G>C | CA409437281 | PCK1 | c.1490G>C (p.Trp497Ser) n.4132G>C c.1094G>C (p.Trp365Ser) | |
| 20 | g.57565425G= | CA2371897565 | PCK1 | c.1490G= (p.Trp497=) n.4132G= c.1094G= (p.Trp365=) | |
| 20 | g.57565425G>T | CA409437280 | PCK1 | c.1490G>T (p.Trp497Leu) n.4132G>T c.1094G>T (p.Trp365Leu) | |
| 20 | g.57565426G>A | CA409437282 | PCK1 | c.1491G>A (p.Trp497Ter) n.4133G>A c.1095G>A (p.Trp365Ter) | dbSNP |
| 20 | g.57565426G>C | CA409437283 | PCK1 | c.1491G>C (p.Trp497Cys) n.4133G>C c.1095G>C (p.Trp365Cys) | dbSNP |
| 20 | g.57565426G= | CA2371897566 | PCK1 | c.1491G= (p.Trp497=) n.4133G= c.1095G= (p.Trp365=) | |
| 20 | g.57565426G>T | CA316282220 | PCK1 | c.1491G>T (p.Trp497Cys) n.4133G>T c.1095G>T (p.Trp365Cys) | dbSNP |
| 20 | g.57565427C>A | CA409437284 | PCK1 | c.1492C>A (p.Leu498Ile) n.4134C>A c.1096C>A (p.Leu366Ile) | dbSNP |
| 20 | g.57565427C= | CA2371897567 | PCK1 | c.1492C= (p.Leu498=) n.4134C= c.1096C= (p.Leu366=) | |
| 20 | g.57565427C>G | CA409437285 | PCK1 | c.1492C>G (p.Leu498Val) n.4134C>G c.1096C>G (p.Leu366Val) | |
| 20 | g.57565427C>T | CA409437286 | PCK1 | c.1492C>T (p.Leu498Phe) n.4134C>T c.1096C>T (p.Leu366Phe) | dbSNP |
| 20 | g.57565428T>A | CA409437287 | PCK1 | c.1493T>A (p.Leu498His) n.4135T>A c.1097T>A (p.Leu366His) | |
| 20 | g.57565428T>C | CA409437288 | PCK1 | c.1493T>C (p.Leu498Pro) n.4135T>C c.1097T>C (p.Leu366Pro) | |
| 20 | g.57565428T>G | CA409437289 | PCK1 | c.1493T>G (p.Leu498Arg) n.4135T>G c.1097T>G (p.Leu366Arg) | COSMIC |
| 20 | g.57565429T>A | CA511310984 | PCK1 | c.1494T>A (p.Leu498=) n.4136T>A c.1098T>A (p.Leu366=) | gnomAD v4 |
| 20 | g.57565429T>C | CA511310986 | PCK1 | c.1494T>C (p.Leu498=) n.4136T>C c.1098T>C (p.Leu366=) | |
| 20 | g.57565429T>G | CA511310985 | PCK1 | c.1494T>G (p.Leu498=) n.4136T>G c.1098T>G (p.Leu366=) | dbSNP |
| 20 | g.57565429T= | CA2371897568 | PCK1 | c.1494T= (p.Leu498=) n.4136T= c.1098T= (p.Leu366=) | |
| 20 | g.57565430A>C | CA409437290 | PCK1 | c.1495A>C (p.Ser499Arg) n.4137A>C c.1099A>C (p.Ser367Arg) | |
| 20 | g.57565430A>G | CA409437291 | PCK1 | c.1495A>G (p.Ser499Gly) n.4137A>G c.1099A>G (p.Ser367Gly) | dbSNP |
| 20 | g.57565430A>T | CA409437292 | PCK1 | c.1495A>T (p.Ser499Cys) n.4137A>T c.1099A>T (p.Ser367Cys) | |
| 20 | g.57565431G>A | CA409437293 | PCK1 | c.1496G>A (p.Ser499Asn) n.4138G>A c.1100G>A (p.Ser367Asn) | |
| 20 | g.57565431G>C | CA409437295 | PCK1 | c.1496G>C (p.Ser499Thr) n.4138G>C c.1100G>C (p.Ser367Thr) | |
| 20 | g.57565431G>T | CA409437294 | PCK1 | c.1496G>T (p.Ser499Ile) n.4138G>T c.1100G>T (p.Ser367Ile) | |
| 20 | g.57565432C>A | CA409437296 | PCK1 | c.1497C>A (p.Ser499Arg) n.4139C>A c.1101C>A (p.Ser367Arg) | |
| 20 | g.57565432C>G | CA409437297 | PCK1 | c.1497C>G (p.Ser499Arg) n.4139C>G c.1101C>G (p.Ser367Arg) | |
| 20 | g.57565432C>T | CA511310987 | PCK1 | c.1497C>T (p.Ser499=) n.4139C>T c.1101C>T (p.Ser367=) | dbSNP |
| 20 | g.57565433A>C | CA409437298 | PCK1 | c.1498A>C (p.Met500Leu) n.4140A>C c.1102A>C (p.Met368Leu) | |
| 20 | g.57565433A>G | CA409437299 | PCK1 | c.1498A>G (p.Met500Val) n.4140A>G c.1102A>G (p.Met368Val) | gnomAD v4 |
| 20 | g.57565433A>T | CA409437300 | PCK1 | c.1498A>T (p.Met500Leu) n.4140A>T c.1102A>T (p.Met368Leu) | |
| 20 | g.57565434T>A | CA409437301 | PCK1 | c.1499T>A (p.Met500Lys) n.4141T>A c.1103T>A (p.Met368Lys) | |
| 20 | g.57565434T>C | CA409437302 | PCK1 | c.1499T>C (p.Met500Thr) n.4141T>C c.1103T>C (p.Met368Thr) | |
| 20 | g.57565434T>G | CA409437303 | PCK1 | c.1499T>G (p.Met500Arg) n.4141T>G c.1103T>G (p.Met368Arg) | |
| 20 | g.57565435G>A | CA409437304 | PCK1 | c.1500G>A (p.Met500Ile) n.4142G>A c.1104G>A (p.Met368Ile) | |
| 20 | g.57565435G>C | CA409437305 | PCK1 | c.1500G>C (p.Met500Ile) n.4142G>C c.1104G>C (p.Met368Ile) | |
| 20 | g.57565435G>T | CA409437306 | PCK1 | c.1500G>T (p.Met500Ile) n.4142G>T c.1104G>T (p.Met368Ile) | |
| 20 | g.57565436G>A | CA409437309 | PCK1 | c.1501G>A (p.Ala501Thr) n.4143G>A c.1105G>A (p.Ala369Thr) | dbSNP |
| 20 | g.57565436G>C | CA409437308 | PCK1 | c.1501G>C (p.Ala501Pro) n.4143G>C c.1105G>C (p.Ala369Pro) | |
| 20 | g.57565436G>T | CA409437307 | PCK1 | c.1501G>T (p.Ala501Ser) n.4143G>T c.1105G>T (p.Ala369Ser) | |
| 20 | g.57565437C>A | CA409437310 | PCK1 | c.1502C>A (p.Ala501Asp) n.4144C>A c.1106C>A (p.Ala369Asp) | |
| 20 | g.57565437C>G | CA409437311 | PCK1 | c.1502C>G (p.Ala501Gly) n.4144C>G c.1106C>G (p.Ala369Gly) | |
| 20 | g.57565437C>T | CA409437312 | PCK1 | c.1502C>T (p.Ala501Val) n.4144C>T c.1106C>T (p.Ala369Val) | |
| 20 | g.57565444_57565450del | CA2653461894 | PCK1 | c.1509_1515del (p.His503GlnfsTer?) n.4151_4157del c.1113_1119del (p.His371GlnfsTer?) | gnomAD v4 |
| 20 | g.57565438C>A | CA511310990 | PCK1 | c.1503C>A (p.Ala501=) n.4145C>A c.1107C>A (p.Ala369=) | |
| 20 | g.57565438C= | CA2371897569 | PCK1 | c.1503C= (p.Ala501=) n.4145C= c.1107C= (p.Ala369=) | |
| 20 | g.57565438C>G | CA511310988 | PCK1 | c.1503C>G (p.Ala501=) n.4145C>G c.1107C>G (p.Ala369=) | dbSNP gnomAD v4 |
| 20 | g.57565438C>T | CA511310989 | PCK1 | c.1503C>T (p.Ala501=) n.4145C>T c.1107C>T (p.Ala369=) | gnomAD v4 |
| 20 | g.57565439C>A | CA409437313 | PCK1 | c.1504C>A (p.Gln502Lys) n.4146C>A c.1108C>A (p.Gln370Lys) | |
| 20 | g.57565439C>G | CA409437314 | PCK1 | c.1504C>G (p.Gln502Glu) n.4146C>G c.1108C>G (p.Gln370Glu) | |
| 20 | g.57565439C>T | CA409437315 | PCK1 | c.1504C>T (p.Gln502Ter) n.4146C>T c.1108C>T (p.Gln370Ter) | |
| 20 | g.57565440A= | CA2371897570 | PCK1 | c.1505A= (p.Gln502=) n.4147A= c.1109A= (p.Gln370=) | |
| 20 | g.57565440A>C | CA409437316 | PCK1 | c.1505A>C (p.Gln502Pro) n.4147A>C c.1109A>C (p.Gln370Pro) | |
| 20 | g.57565440A>G | CA9922413 | PCK1 | c.1505A>G (p.Gln502Arg) n.4147A>G c.1109A>G (p.Gln370Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565440A>T | CA409437317 | PCK1 | c.1505A>T (p.Gln502Leu) n.4147A>T c.1109A>T (p.Gln370Leu) | |
| 20 | g.57565441G>A | CA9922414 | PCK1 | c.1506G>A (p.Gln502=) n.4148G>A c.1110G>A (p.Gln370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565441G>C | CA409437318 | PCK1 | c.1506G>C (p.Gln502His) n.4148G>C c.1110G>C (p.Gln370His) | dbSNP |
| 20 | g.57565441G= | CA2371897571 | PCK1 | c.1506G= (p.Gln502=) n.4148G= c.1110G= (p.Gln370=) | |
| 20 | g.57565441G>T | CA409437319 | PCK1 | c.1506G>T (p.Gln502His) n.4148G>T c.1110G>T (p.Gln370His) | |
| 20 | g.57565442C>A | CA409437320 | PCK1 | c.1507C>A (p.His503Asn) n.4149C>A c.1111C>A (p.His371Asn) | |
| 20 | g.57565442C= | CA2371897572 | PCK1 | c.1507C= (p.His503=) n.4149C= c.1111C= (p.His371=) | |
| 20 | g.57565442C>G | CA409437321 | PCK1 | c.1507C>G (p.His503Asp) n.4149C>G c.1111C>G (p.His371Asp) | |
| 20 | g.57565442C>T | CA9922415 | PCK1 | c.1507C>T (p.His503Tyr) n.4149C>T c.1111C>T (p.His371Tyr) | dbSNP ExAC gnomAD v2 |
| 20 | g.57565443A= | CA2371897573 | PCK1 | c.1508A= (p.His503=) n.4150A= c.1112A= (p.His371=) | |
| 20 | g.57565443A>C | CA409437322 | PCK1 | c.1508A>C (p.His503Pro) n.4150A>C c.1112A>C (p.His371Pro) | |
| 20 | g.57565443A>G | CA409437324 | PCK1 | c.1508A>G (p.His503Arg) n.4150A>G c.1112A>G (p.His371Arg) | dbSNP |
| 20 | g.57565443A>T | CA409437323 | PCK1 | c.1508A>T (p.His503Leu) n.4150A>T c.1112A>T (p.His371Leu) | |
| 20 | g.57565444C>A | CA409437325 | PCK1 | c.1509C>A (p.His503Gln) n.4151C>A c.1113C>A (p.His371Gln) | gnomAD v4 |
| 20 | g.57565444C= | CA2371897574 | PCK1 | c.1509C= (p.His503=) n.4151C= c.1113C= (p.His371=) | |
| 20 | g.57565444C>G | CA409437326 | PCK1 | c.1509C>G (p.His503Gln) n.4151C>G c.1113C>G (p.His371Gln) | |
| 20 | g.57565444C>T | CA511310991 | PCK1 | c.1509C>T (p.His503=) n.4151C>T c.1113C>T (p.His371=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565446_57565453del | CA2653461895 | PCK1 | c.1511_1518del (p.Pro504GlnfsTer?) n.4153_4160del c.1115_1122del (p.Pro372GlnfsTer?) | gnomAD v4 |
| 20 | g.57565445C>A | CA409437327 | PCK1 | c.1510C>A (p.Pro504Thr) n.4152C>A c.1114C>A (p.Pro372Thr) | |
| 20 | g.57565445C= | CA2371897575 | PCK1 | c.1510C= (p.Pro504=) n.4152C= c.1114C= (p.Pro372=) | |
| 20 | g.57565445C>G | CA409437329 | PCK1 | c.1510C>G (p.Pro504Ala) n.4152C>G c.1114C>G (p.Pro372Ala) | gnomAD v4 |
| 20 | g.57565445C>T | CA409437328 | PCK1 | c.1510C>T (p.Pro504Ser) n.4152C>T c.1114C>T (p.Pro372Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565446C>A | CA409437330 | PCK1 | c.1511C>A (p.Pro504Gln) n.4153C>A c.1115C>A (p.Pro372Gln) | |
| 20 | g.57565446C>G | CA409437331 | PCK1 | c.1511C>G (p.Pro504Arg) n.4153C>G c.1115C>G (p.Pro372Arg) | |
| 20 | g.57565446C>T | CA409437332 | PCK1 | c.1511C>T (p.Pro504Leu) n.4153C>T c.1115C>T (p.Pro372Leu) | |
| 20 | g.57565447A= | CA2371897576 | PCK1 | c.1512A= (p.Pro504=) n.4154A= c.1116A= (p.Pro372=) | |
| 20 | g.57565447A>C | CA511310992 | PCK1 | c.1512A>C (p.Pro504=) n.4154A>C c.1116A>C (p.Pro372=) | |
| 20 | g.57565447A>G | CA511310993 | PCK1 | c.1512A>G (p.Pro504=) n.4154A>G c.1116A>G (p.Pro372=) | |
| 20 | g.57565447A>T | CA9922416 | PCK1 | c.1512A>T (p.Pro504=) n.4154A>T c.1116A>T (p.Pro372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565448G>A | CA409437333 | PCK1 | c.1513G>A (p.Ala505Thr) n.4155G>A c.1117G>A (p.Ala373Thr) | dbSNP |
| 20 | g.57565448G>C | CA409437334 | PCK1 | c.1513G>C (p.Ala505Pro) n.4155G>C c.1117G>C (p.Ala373Pro) | dbSNP |
| 20 | g.57565448G>T | CA409437335 | PCK1 | c.1513G>T (p.Ala505Ser) n.4155G>T c.1117G>T (p.Ala373Ser) | |
| 20 | g.57565449C>A | CA409437336 | PCK1 | c.1514C>A (p.Ala505Glu) n.4156C>A c.1118C>A (p.Ala373Glu) | |
| 20 | g.57565449C= | CA2371897577 | PCK1 | c.1514C= (p.Ala505=) n.4156C= c.1118C= (p.Ala373=) | |
| 20 | g.57565449C>G | CA409437337 | PCK1 | c.1514C>G (p.Ala505Gly) n.4156C>G c.1118C>G (p.Ala373Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565449C>T | CA409437338 | PCK1 | c.1514C>T (p.Ala505Val) n.4156C>T c.1118C>T (p.Ala373Val) | dbSNP |
| 20 | g.57565450A>C | CA511310994 | PCK1 | c.1515A>C (p.Ala505=) n.4157A>C c.1119A>C (p.Ala373=) | dbSNP |
| 20 | g.57565450A>G | CA511310995 | PCK1 | c.1515A>G (p.Ala505=) n.4157A>G c.1119A>G (p.Ala373=) | |
| 20 | g.57565450A>T | CA511310996 | PCK1 | c.1515A>T (p.Ala505=) n.4157A>T c.1119A>T (p.Ala373=) | |
| 20 | g.57565451G>A | CA409437341 | PCK1 | c.1516G>A (p.Ala506Thr) n.4158G>A c.1120G>A (p.Ala374Thr) | dbSNP |
| 20 | g.57565451G>C | CA409437340 | PCK1 | c.1516G>C (p.Ala506Pro) n.4158G>C c.1120G>C (p.Ala374Pro) | |
| 20 | g.57565451G>T | CA409437339 | PCK1 | c.1516G>T (p.Ala506Ser) n.4158G>T c.1120G>T (p.Ala374Ser) | |
| 20 | g.57565452C>A | CA409437342 | PCK1 | c.1517C>A (p.Ala506Asp) n.4159C>A c.1121C>A (p.Ala374Asp) | dbSNP gnomAD v4 |
| 20 | g.57565452C>G | CA409437343 | PCK1 | c.1517C>G (p.Ala506Gly) n.4159C>G c.1121C>G (p.Ala374Gly) | |
| 20 | g.57565452C>T | CA409437344 | PCK1 | c.1517C>T (p.Ala506Val) n.4159C>T c.1121C>T (p.Ala374Val) | gnomAD v4 |
| 20 | g.57565453C>A | CA511310997 | PCK1 | c.1518C>A (p.Ala506=) n.4160C>A c.1122C>A (p.Ala374=) | gnomAD v4 |
| 20 | g.57565453C>G | CA511310998 | PCK1 | c.1518C>G (p.Ala506=) n.4160C>G c.1122C>G (p.Ala374=) | |
| 20 | g.57565453C>T | CA511310999 | PCK1 | c.1518C>T (p.Ala506=) n.4160C>T c.1122C>T (p.Ala374=) | |
| 20 | g.57565454A>C | CA409437345 | PCK1 | c.1519A>C (p.Lys507Gln) n.4161A>C c.1123A>C (p.Lys375Gln) | |
| 20 | g.57565454A>G | CA409437346 | PCK1 | c.1519A>G (p.Lys507Glu) n.4161A>G c.1123A>G (p.Lys375Glu) | |
| 20 | g.57565454A>T | CA409437347 | PCK1 | c.1519A>T (p.Lys507Ter) n.4161A>T c.1123A>T (p.Lys375Ter) | |
| 20 | g.57565455A>C | CA409437348 | PCK1 | c.1520A>C (p.Lys507Thr) n.4162A>C c.1124A>C (p.Lys375Thr) | |
| 20 | g.57565455A>G | CA409437349 | PCK1 | c.1520A>G (p.Lys507Arg) n.4162A>G c.1124A>G (p.Lys375Arg) | |
| 20 | g.57565455A>T | CA409437350 | PCK1 | c.1520A>T (p.Lys507Ile) n.4162A>T c.1124A>T (p.Lys375Ile) | |
| 20 | g.57565456A= | CA2371897578 | PCK1 | c.1521A= (p.Lys507=) n.4163A= c.1125A= (p.Lys375=) | |
| 20 | g.57565456A>C | CA409437351 | PCK1 | c.1521A>C (p.Lys507Asn) n.4163A>C c.1125A>C (p.Lys375Asn) | |
| 20 | g.57565456A>G | CA511311000 | PCK1 | c.1521A>G (p.Lys507=) n.4163A>G c.1125A>G (p.Lys375=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565456A>T | CA409437352 | PCK1 | c.1521A>T (p.Lys507Asn) n.4163A>T c.1125A>T (p.Lys375Asn) | |
| 20 | g.57565457C>A | CA409437354 | PCK1 | c.1522C>A (p.Leu508Met) n.4164C>A c.1126C>A (p.Leu376Met) | |
| 20 | g.57565457C= | CA2371897579 | PCK1 | c.1522C= (p.Leu508=) n.4164C= c.1126C= (p.Leu376=) | |
| 20 | g.57565457C>G | CA409437353 | PCK1 | c.1522C>G (p.Leu508Val) n.4164C>G c.1126C>G (p.Leu376Val) | |
| 20 | g.57565457C>T | CA9922417 | PCK1 | c.1522C>T (p.Leu508=) n.4164C>T c.1126C>T (p.Leu376=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565458T>A | CA409437355 | PCK1 | c.1523T>A (p.Leu508Gln) n.4165T>A c.1127T>A (p.Leu376Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565458T>C | CA409437356 | PCK1 | c.1523T>C (p.Leu508Pro) n.4165T>C c.1127T>C (p.Leu376Pro) | gnomAD v4 |
| 20 | g.57565458T>G | CA409437357 | PCK1 | c.1523T>G (p.Leu508Arg) n.4165T>G c.1127T>G (p.Leu376Arg) | |
| 20 | g.57565458T= | CA2371897580 | PCK1 | c.1523T= (p.Leu508=) n.4165T= c.1127T= (p.Leu376=) | |
| 20 | g.57565459G>A | CA511311003 | PCK1 | c.1524G>A (p.Leu508=) n.4166G>A c.1128G>A (p.Leu376=) | dbSNP COSMIC |
| 20 | g.57565459G>C | CA511311001 | PCK1 | c.1524G>C (p.Leu508=) n.4166G>C c.1128G>C (p.Leu376=) | |
| 20 | g.57565459G>T | CA511311002 | PCK1 | c.1524G>T (p.Leu508=) n.4166G>T c.1128G>T (p.Leu376=) | |
| 20 | g.57565460C>A | CA409437358 | PCK1 | c.1525C>A (p.Pro509Thr) n.4167C>A c.1129C>A (p.Pro377Thr) | |
| 20 | g.57565460C>G | CA409437359 | PCK1 | c.1525C>G (p.Pro509Ala) n.4167C>G c.1129C>G (p.Pro377Ala) | |
| 20 | g.57565460C>T | CA409437360 | PCK1 | c.1525C>T (p.Pro509Ser) n.4167C>T c.1129C>T (p.Pro377Ser) | dbSNP gnomAD v4 |
| 20 | g.57565461C>A | CA409437361 | PCK1 | c.1526C>A (p.Pro509His) n.4168C>A c.1130C>A (p.Pro377His) | COSMIC |
| 20 | g.57565461C>G | CA409437362 | PCK1 | c.1526C>G (p.Pro509Arg) n.4168C>G c.1130C>G (p.Pro377Arg) | |
| 20 | g.57565461C>T | CA409437363 | PCK1 | c.1526C>T (p.Pro509Leu) n.4168C>T c.1130C>T (p.Pro377Leu) | |
| 20 | g.57565462C>A | CA511311004 | PCK1 | c.1527C>A (p.Pro509=) n.4169C>A c.1131C>A (p.Pro377=) | |
| 20 | g.57565462C>G | CA511311005 | PCK1 | c.1527C>G (p.Pro509=) n.4169C>G c.1131C>G (p.Pro377=) | dbSNP gnomAD v4 |
| 20 | g.57565462C>T | CA511311006 | PCK1 | c.1527C>T (p.Pro509=) n.4169C>T c.1131C>T (p.Pro377=) | |
| 20 | g.57565463A>C | CA409437364 | PCK1 | c.1528A>C (p.Lys510Gln) n.4170A>C c.1132A>C (p.Lys378Gln) | |
| 20 | g.57565463A>G | CA409437365 | PCK1 | c.1528A>G (p.Lys510Glu) n.4170A>G c.1132A>G (p.Lys378Glu) | |
| 20 | g.57565463A>T | CA409437366 | PCK1 | c.1528A>T (p.Lys510Ter) n.4170A>T c.1132A>T (p.Lys378Ter) | |
| 20 | g.57565464A= | CA2371897581 | PCK1 | c.1529A= (p.Lys510=) n.4171A= c.1133A= (p.Lys378=) | |
| 20 | g.57565464A>C | CA409437369 | PCK1 | c.1529A>C (p.Lys510Thr) n.4171A>C c.1133A>C (p.Lys378Thr) | |
| 20 | g.57565464A>G | CA409437367 | PCK1 | c.1529A>G (p.Lys510Arg) n.4171A>G c.1133A>G (p.Lys378Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565464A>T | CA409437368 | PCK1 | c.1529A>T (p.Lys510Met) n.4171A>T c.1133A>T (p.Lys378Met) | |
| 20 | g.57565465G>A | CA511311007 | PCK1 | c.1530G>A (p.Lys510=) n.4172G>A c.1134G>A (p.Lys378=) | |
| 20 | g.57565465G>C | CA409437370 | PCK1 | c.1530G>C (p.Lys510Asn) n.4172G>C c.1134G>C (p.Lys378Asn) | |
| 20 | g.57565465G>T | CA409437371 | PCK1 | c.1530G>T (p.Lys510Asn) n.4172G>T c.1134G>T (p.Lys378Asn) | gnomAD v4 COSMIC |
| 20 | g.57565466A= | CA2371897582 | PCK1 | c.1531A= (p.Ile511=) n.4173A= c.1135A= (p.Ile379=) | |
| 20 | g.57565466A>C | CA409437372 | PCK1 | c.1531A>C (p.Ile511Leu) n.4173A>C c.1135A>C (p.Ile379Leu) | |
| 20 | g.57565466A>G | CA409437373 | PCK1 | c.1531A>G (p.Ile511Val) n.4173A>G c.1135A>G (p.Ile379Val) | dbSNP gnomAD v4 |
| 20 | g.57565466A>T | CA316282239 | PCK1 | c.1531A>T (p.Ile511Phe) n.4173A>T c.1135A>T (p.Ile379Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565467T>A | CA409437374 | PCK1 | c.1532T>A (p.Ile511Asn) n.4174T>A c.1136T>A (p.Ile379Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565467T>C | CA409437375 | PCK1 | c.1532T>C (p.Ile511Thr) n.4174T>C c.1136T>C (p.Ile379Thr) | |
| 20 | g.57565467T>G | CA409437376 | PCK1 | c.1532T>G (p.Ile511Ser) n.4174T>G c.1136T>G (p.Ile379Ser) | |
| 20 | g.57565467T= | CA2371897583 | PCK1 | c.1532T= (p.Ile511=) n.4174T= c.1136T= (p.Ile379=) | |
| 20 | g.57565468C>A | CA511311008 | PCK1 | c.1533C>A (p.Ile511=) n.4175C>A c.1137C>A (p.Ile379=) | |
| 20 | g.57565468C= | CA2371897584 | PCK1 | c.1533C= (p.Ile511=) n.4175C= c.1137C= (p.Ile379=) | |
| 20 | g.57565468C>G | CA409437377 | PCK1 | c.1533C>G (p.Ile511Met) n.4175C>G c.1137C>G (p.Ile379Met) | |
| 20 | g.57565468C>T | CA511311009 | PCK1 | c.1533C>T (p.Ile511=) n.4175C>T c.1137C>T (p.Ile379=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.57565469T>A | CA409437378 | PCK1 | c.1534T>A (p.Phe512Ile) n.4176T>A c.1138T>A (p.Phe380Ile) | |
| 20 | g.57565469T>C | CA409437379 | PCK1 | c.1534T>C (p.Phe512Leu) n.4176T>C c.1138T>C (p.Phe380Leu) | |
| 20 | g.57565469T>G | CA409437380 | PCK1 | c.1534T>G (p.Phe512Val) n.4176T>G c.1138T>G (p.Phe380Val) | |
| 20 | g.57565470T>A | CA409437382 | PCK1 | c.1535T>A (p.Phe512Tyr) n.4177T>A c.1139T>A (p.Phe380Tyr) | |
| 20 | g.57565470T>C | CA409437383 | PCK1 | c.1535T>C (p.Phe512Ser) n.4177T>C c.1139T>C (p.Phe380Ser) | dbSNP gnomAD v2 |
| 20 | g.57565470T>G | CA409437381 | PCK1 | c.1535T>G (p.Phe512Cys) n.4177T>G c.1139T>G (p.Phe380Cys) | gnomAD v4 |
| 20 | g.57565470T= | CA2371897585 | PCK1 | c.1535T= (p.Phe512=) n.4177T= c.1139T= (p.Phe380=) | |
| 20 | g.57565471C>A | CA409437385 | PCK1 | c.1536C>A (p.Phe512Leu) n.4178C>A c.1140C>A (p.Phe380Leu) | dbSNP |
| 20 | g.57565471C= | CA2371897586 | PCK1 | c.1536C= (p.Phe512=) n.4178C= c.1140C= (p.Phe380=) | |
| 20 | g.57565471C>G | CA409437384 | PCK1 | c.1536C>G (p.Phe512Leu) n.4178C>G c.1140C>G (p.Phe380Leu) | |
| 20 | g.57565471C>T | CA511311010 | PCK1 | c.1536C>T (p.Phe512=) n.4178C>T c.1140C>T (p.Phe380=) | dbSNP gnomAD v4 |