Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155291741_155291745delinsGTCTA | CA2481225376 | PKLR | c.1618+11_1618+15delinsTAGAC (n.1618+11_1618+15delinsTAGAC) c.1525+11_1525+15delinsTAGAC (n.1525+11_1525+15delinsTAGAC) c.1777+11_1777+15delinsTAGAC (n.1777+11_1777+15delinsTAGAC) c.1426+11_1426+15delinsTAGAC (n.1426+11_1426+15delinsTAGAC) | |
1 | g.155291742_155291745del | CA1143953 | PKLR | c.1618+11_1618+14del (n.1618+11_1618+14del) c.1525+11_1525+14del (n.1525+11_1525+14del) c.1777+11_1777+14del (n.1777+11_1777+14del) c.1426+11_1426+14del (n.1426+11_1426+14del) | dbSNP ExAC gnomAD v2 |
1 | g.155291745A= | CA2481225379 | PKLR | c.1618+11T= (n.1618+11T=) c.1525+11T= (n.1525+11T=) c.1777+11T= (n.1777+11T=) c.1426+11T= (n.1426+11T=) | |
1 | g.155291745A>G | CA2481225380 | PKLR | c.1618+11T>C (n.1618+11T>C) c.1525+11T>C (n.1525+11T>C) c.1777+11T>C (n.1777+11T>C) c.1426+11T>C (n.1426+11T>C) | dbSNP |
1 | g.155291747G>A | CA2648267616 | PKLR | c.1618+9C>T (n.1618+9C>T) c.1525+9C>T (n.1525+9C>T) c.1777+9C>T (n.1777+9C>T) c.1426+9C>T (n.1426+9C>T) | gnomAD v4 |
1 | g.155291748T>G | CA1143956 | PKLR | c.1618+8A>C (n.1618+8A>C) c.1525+8A>C (n.1525+8A>C) c.1777+8A>C (n.1777+8A>C) c.1426+8A>C (n.1426+8A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291748T= | CA2481225381 | PKLR | c.1618+8A= (n.1618+8A=) c.1525+8A= (n.1525+8A=) c.1777+8A= (n.1777+8A=) c.1426+8A= (n.1426+8A=) | |
1 | g.155291749A>T | CA2648267618 | PKLR | c.1618+7T>A (n.1618+7T>A) c.1525+7T>A (n.1525+7T>A) c.1777+7T>A (n.1777+7T>A) c.1426+7T>A (n.1426+7T>A) | gnomAD v4 |
1 | g.155291751C>T | CA2648267620 | PKLR | c.1618+5G>A (n.1618+5G>A) c.1525+5G>A (n.1525+5G>A) c.1777+5G>A (n.1777+5G>A) c.1426+5G>A (n.1426+5G>A) | gnomAD v4 |
1 | g.155291753C>T | CA2648267622 | PKLR | c.1618+3G>A (n.1618+3G>A) c.1525+3G>A (n.1525+3G>A) c.1777+3G>A (n.1777+3G>A) c.1426+3G>A (n.1426+3G>A) | gnomAD v4 |
1 | g.155291754A= | CA2481225383 | PKLR | c.1618+2T= (n.1618+2T=) c.1525+2T= (n.1525+2T=) c.1777+2T= (n.1777+2T=) c.1426+2T= (n.1426+2T=) | |
1 | g.155291754A>C | CA342750182 | PKLR | c.1618+2T>G (n.1618+2T>G) c.1525+2T>G (n.1525+2T>G) c.1777+2T>G (n.1777+2T>G) c.1426+2T>G (n.1426+2T>G) | gnomAD v4 |
1 | g.155291754A>G | CA30900204 | PKLR | c.1618+2T>C (n.1618+2T>C) c.1525+2T>C (n.1525+2T>C) c.1777+2T>C (n.1777+2T>C) c.1426+2T>C (n.1426+2T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.155291754A>T | CA342750184 | PKLR | c.1618+2T>A (n.1618+2T>A) c.1525+2T>A (n.1525+2T>A) c.1777+2T>A (n.1777+2T>A) c.1426+2T>A (n.1426+2T>A) | |
1 | g.155291754_155291755delinsAC | CA2481225382 | PKLR | c.1618+1_1618+2delinsGT (n.1618+1_1618+2delinsGT) c.1525+1_1525+2delinsGT (n.1525+1_1525+2delinsGT) c.1777+1_1777+2delinsGT (n.1777+1_1777+2delinsGT) c.1426+1_1426+2delinsGT (n.1426+1_1426+2delinsGT) | |
1 | g.155291755C>A | CA342750187 | PKLR | c.1618+1G>T (n.1618+1G>T) c.1525+1G>T (n.1525+1G>T) c.1777+1G>T (n.1777+1G>T) c.1426+1G>T (n.1426+1G>T) | |
1 | g.155291755C= | CA2481225384 | PKLR | c.1618+1G= (n.1618+1G=) c.1525+1G= (n.1525+1G=) c.1777+1G= (n.1777+1G=) c.1426+1G= (n.1426+1G=) | |
1 | g.155291755C>G | CA342750189 | PKLR | c.1618+1G>C (n.1618+1G>C) c.1525+1G>C (n.1525+1G>C) c.1777+1G>C (n.1777+1G>C) c.1426+1G>C (n.1426+1G>C) | gnomAD v4 |
1 | g.155291755C>T | CA30900207 | PKLR | c.1618+1G>A (n.1618+1G>A) c.1525+1G>A (n.1525+1G>A) c.1777+1G>A (n.1777+1G>A) c.1426+1G>A (n.1426+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291756del | CA1143957 | PKLR | c.1618+1del c.1525+1del c.1777+1del c.1426+1del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291756C>A | CA1143958 | PKLR | c.1618G>T (p.Gly540Ter) c.1525G>T (p.Gly509Ter) c.1777G>T (p.Gly593Ter) c.1426G>T (p.Gly476Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291756C= | CA2481225385 | PKLR | c.1618G= (p.Gly540=) c.1525G= (p.Gly509=) c.1777G= (p.Gly593=) c.1426G= (p.Gly476=) | |
1 | g.155291756C>G | CA342750192 | PKLR | c.1618G>C (p.Gly540Arg) c.1525G>C (p.Gly509Arg) c.1777G>C (p.Gly593Arg) c.1426G>C (p.Gly476Arg) | |
1 | g.155291756C>T | CA342750194 | PKLR | c.1618G>A (p.Gly540Arg) c.1525G>A (p.Gly509Arg) c.1777G>A (p.Gly593Arg) c.1426G>A (p.Gly476Arg) | |
1 | g.155291757A>C | CA342750201 | PKLR | c.1617T>G (p.Ser539Arg) c.1524T>G (p.Ser508Arg) c.1776T>G (p.Ser592Arg) c.1425T>G (p.Ser475Arg) | |
1 | g.155291757A>G | CA421020051 | PKLR | c.1617T>C (p.Ser539=) c.1524T>C (p.Ser508=) c.1776T>C (p.Ser592=) c.1425T>C (p.Ser475=) | COSMIC |
1 | g.155291757A>T | CA342750203 | PKLR | c.1617T>A (p.Ser539Arg) c.1524T>A (p.Ser508Arg) c.1776T>A (p.Ser592Arg) c.1425T>A (p.Ser475Arg) | |
1 | g.155291758C>A | CA342750204 | PKLR | c.1616G>T (p.Ser539Ile) c.1523G>T (p.Ser508Ile) c.1775G>T (p.Ser592Ile) c.1424G>T (p.Ser475Ile) | |
1 | g.155291758C>G | CA342750205 | PKLR | c.1616G>C (p.Ser539Thr) c.1523G>C (p.Ser508Thr) c.1775G>C (p.Ser592Thr) c.1424G>C (p.Ser475Thr) | |
1 | g.155291758C>T | CA342750206 | PKLR | c.1616G>A (p.Ser539Asn) c.1523G>A (p.Ser508Asn) c.1775G>A (p.Ser592Asn) c.1424G>A (p.Ser475Asn) | |
1 | g.155291759T>A | CA342750209 | PKLR | c.1615A>T (p.Ser539Cys) c.1522A>T (p.Ser508Cys) c.1774A>T (p.Ser592Cys) c.1423A>T (p.Ser475Cys) | |
1 | g.155291759T>C | CA342750210 | PKLR | c.1615A>G (p.Ser539Gly) c.1522A>G (p.Ser508Gly) c.1774A>G (p.Ser592Gly) c.1423A>G (p.Ser475Gly) | |
1 | g.155291759T>G | CA342750212 | PKLR | c.1615A>C (p.Ser539Arg) c.1522A>C (p.Ser508Arg) c.1774A>C (p.Ser592Arg) c.1423A>C (p.Ser475Arg) | |
1 | g.155291760T>A | CA1143959 | PKLR | c.1614A>T (p.Glu538Asp) c.1521A>T (p.Glu507Asp) c.1773A>T (p.Glu591Asp) c.1422A>T (p.Glu474Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291760T>C | CA421020052 | PKLR | c.1614A>G (p.Glu538=) c.1521A>G (p.Glu507=) c.1773A>G (p.Glu591=) c.1422A>G (p.Glu474=) | |
1 | g.155291760T>G | CA342750213 | PKLR | c.1614A>C (p.Glu538Asp) c.1521A>C (p.Glu507Asp) c.1773A>C (p.Glu591Asp) c.1422A>C (p.Glu474Asp) | |
1 | g.155291760T= | CA1143468136 | PKLR | c.1614A= (p.Glu538=) c.1521A= (p.Glu507=) c.1773A= (p.Glu591=) c.1422A= (p.Glu474=) | |
1 | g.155291761T>A | CA342750217 | PKLR | c.1613A>T (p.Glu538Val) c.1520A>T (p.Glu507Val) c.1772A>T (p.Glu591Val) c.1421A>T (p.Glu474Val) | |
1 | g.155291761T>C | CA342750223 | PKLR | c.1613A>G (p.Glu538Gly) c.1520A>G (p.Glu507Gly) c.1772A>G (p.Glu591Gly) c.1421A>G (p.Glu474Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291761T>G | CA342750226 | PKLR | c.1613A>C (p.Glu538Ala) c.1520A>C (p.Glu507Ala) c.1772A>C (p.Glu591Ala) c.1421A>C (p.Glu474Ala) | |
1 | g.155291761T= | CA2481225386 | PKLR | c.1613A= (p.Glu538=) c.1520A= (p.Glu507=) c.1772A= (p.Glu591=) c.1421A= (p.Glu474=) | |
1 | g.155291762C>A | CA342750230 | PKLR | c.1612G>T (p.Glu538Ter) c.1519G>T (p.Glu507Ter) c.1771G>T (p.Glu591Ter) c.1420G>T (p.Glu474Ter) | |
1 | g.155291762C>G | CA342750232 | PKLR | c.1612G>C (p.Glu538Gln) c.1519G>C (p.Glu507Gln) c.1771G>C (p.Glu591Gln) c.1420G>C (p.Glu474Gln) | |
1 | g.155291762C>T | CA342750234 | PKLR | c.1612G>A (p.Glu538Lys) c.1519G>A (p.Glu507Lys) c.1771G>A (p.Glu591Lys) c.1420G>A (p.Glu474Lys) | |
1 | g.155291763A= | CA2481225387 | PKLR | c.1611T= (p.Ile537=) c.1518T= (p.Ile506=) c.1770T= (p.Ile590=) c.1419T= (p.Ile473=) | |
1 | g.155291763A>C | CA342750241 | PKLR | c.1611T>G (p.Ile537Met) c.1518T>G (p.Ile506Met) c.1770T>G (p.Ile590Met) c.1419T>G (p.Ile473Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291763A>G | CA421020068 | PKLR | c.1611T>C (p.Ile537=) c.1518T>C (p.Ile506=) c.1770T>C (p.Ile590=) c.1419T>C (p.Ile473=) | gnomAD v4 |
1 | g.155291763A>T | CA421020070 | PKLR | c.1611T>A (p.Ile537=) c.1518T>A (p.Ile506=) c.1770T>A (p.Ile590=) c.1419T>A (p.Ile473=) | |
1 | g.155291764A>C | CA342750242 | PKLR | c.1610T>G (p.Ile537Ser) c.1517T>G (p.Ile506Ser) c.1769T>G (p.Ile590Ser) c.1418T>G (p.Ile473Ser) | |
1 | g.155291764A>G | CA342750244 | PKLR | c.1610T>C (p.Ile537Thr) c.1517T>C (p.Ile506Thr) c.1769T>C (p.Ile590Thr) c.1418T>C (p.Ile473Thr) | |
1 | g.155291764A>T | CA342750246 | PKLR | c.1610T>A (p.Ile537Asn) c.1517T>A (p.Ile506Asn) c.1769T>A (p.Ile590Asn) c.1418T>A (p.Ile473Asn) | |
1 | g.155291765T>A | CA342750251 | PKLR | c.1609A>T (p.Ile537Phe) c.1516A>T (p.Ile506Phe) c.1768A>T (p.Ile590Phe) c.1417A>T (p.Ile473Phe) | |
1 | g.155291765T>C | CA342750252 | PKLR | c.1609A>G (p.Ile537Val) c.1516A>G (p.Ile506Val) c.1768A>G (p.Ile590Val) c.1417A>G (p.Ile473Val) | |
1 | g.155291765T>G | CA342750257 | PKLR | c.1609A>C (p.Ile537Leu) c.1516A>C (p.Ile506Leu) c.1768A>C (p.Ile590Leu) c.1417A>C (p.Ile473Leu) | |
1 | g.155291766G>A | CA1143960 | PKLR | c.1608C>T (p.Gly536=) c.1515C>T (p.Gly505=) c.1767C>T (p.Gly589=) c.1416C>T (p.Gly472=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291766G>C | CA421020084 | PKLR | c.1608C>G (p.Gly536=) c.1515C>G (p.Gly505=) c.1767C>G (p.Gly589=) c.1416C>G (p.Gly472=) | |
1 | g.155291766G= | CA2481225388 | PKLR | c.1608C= (p.Gly536=) c.1515C= (p.Gly505=) c.1767C= (p.Gly589=) c.1416C= (p.Gly472=) | |
1 | g.155291766G>T | CA421020082 | PKLR | c.1608C>A (p.Gly536=) c.1515C>A (p.Gly505=) c.1767C>A (p.Gly589=) c.1416C>A (p.Gly472=) | |
1 | g.155291767C>A | CA342750267 | PKLR | c.1607G>T (p.Gly536Val) c.1514G>T (p.Gly505Val) c.1766G>T (p.Gly589Val) c.1415G>T (p.Gly472Val) | ClinVar dbSNP |
1 | g.155291767C= | CA2481225389 | PKLR | c.1607G= (p.Gly536=) c.1514G= (p.Gly505=) c.1766G= (p.Gly589=) c.1415G= (p.Gly472=) | |
1 | g.155291767C>G | CA342750261 | PKLR | c.1607G>C (p.Gly536Ala) c.1514G>C (p.Gly505Ala) c.1766G>C (p.Gly589Ala) c.1415G>C (p.Gly472Ala) | |
1 | g.155291767C>T | CA342750264 | PKLR | c.1607G>A (p.Gly536Asp) c.1514G>A (p.Gly505Asp) c.1766G>A (p.Gly589Asp) c.1415G>A (p.Gly472Asp) | |
1 | g.155291768C>A | CA342750271 | PKLR | c.1606G>T (p.Gly536Cys) c.1513G>T (p.Gly505Cys) c.1765G>T (p.Gly589Cys) c.1414G>T (p.Gly472Cys) | |
1 | g.155291768C>G | CA342750276 | PKLR | c.1606G>C (p.Gly536Arg) c.1513G>C (p.Gly505Arg) c.1765G>C (p.Gly589Arg) c.1414G>C (p.Gly472Arg) | |
1 | g.155291768C>T | CA342750280 | PKLR | c.1606G>A (p.Gly536Ser) c.1513G>A (p.Gly505Ser) c.1765G>A (p.Gly589Ser) c.1414G>A (p.Gly472Ser) | |
1 | g.155291769A>C | CA342750285 | PKLR | c.1605T>G (p.Phe535Leu) c.1512T>G (p.Phe504Leu) c.1764T>G (p.Phe588Leu) c.1413T>G (p.Phe471Leu) | |
1 | g.155291769A>G | CA421020100 | PKLR | c.1605T>C (p.Phe535=) c.1512T>C (p.Phe504=) c.1764T>C (p.Phe588=) c.1413T>C (p.Phe471=) | |
1 | g.155291769A>T | CA342750287 | PKLR | c.1605T>A (p.Phe535Leu) c.1512T>A (p.Phe504Leu) c.1764T>A (p.Phe588Leu) c.1413T>A (p.Phe471Leu) | |
1 | g.155291770A= | CA2481225390 | PKLR | c.1604T= (p.Phe535=) c.1511T= (p.Phe504=) c.1763T= (p.Phe588=) c.1412T= (p.Phe471=) | |
1 | g.155291770A>C | CA342750291 | PKLR | c.1604T>G (p.Phe535Cys) c.1511T>G (p.Phe504Cys) c.1763T>G (p.Phe588Cys) c.1412T>G (p.Phe471Cys) | |
1 | g.155291770A>G | CA30900212 | PKLR | c.1604T>C (p.Phe535Ser) c.1511T>C (p.Phe504Ser) c.1763T>C (p.Phe588Ser) c.1412T>C (p.Phe471Ser) | dbSNP gnomAD v4 |
1 | g.155291770A>T | CA342750296 | PKLR | c.1604T>A (p.Phe535Tyr) c.1511T>A (p.Phe504Tyr) c.1763T>A (p.Phe588Tyr) c.1412T>A (p.Phe471Tyr) | |
1 | g.155291771A= | CA2481225391 | PKLR | c.1603T= (p.Phe535=) c.1510T= (p.Phe504=) c.1762T= (p.Phe588=) c.1411T= (p.Phe471=) | |
1 | g.155291771A>C | CA342750299 | PKLR | c.1603T>G (p.Phe535Val) c.1510T>G (p.Phe504Val) c.1762T>G (p.Phe588Val) c.1411T>G (p.Phe471Val) | |
1 | g.155291771A>G | CA342750302 | PKLR | c.1603T>C (p.Phe535Leu) c.1510T>C (p.Phe504Leu) c.1762T>C (p.Phe588Leu) c.1411T>C (p.Phe471Leu) | ClinVar gnomAD v4 |
1 | g.155291771A>T | CA342750304 | PKLR | c.1603T>A (p.Phe535Ile) c.1510T>A (p.Phe504Ile) c.1762T>A (p.Phe588Ile) c.1411T>A (p.Phe471Ile) | dbSNP |
1 | g.155291772T>A | CA342750335 | PKLR | c.1602A>T (p.Gln534His) c.1509A>T (p.Gln503His) c.1761A>T (p.Gln587His) c.1410A>T (p.Gln470His) | |
1 | g.155291772T>C | CA421020116 | PKLR | c.1602A>G (p.Gln534=) c.1509A>G (p.Gln503=) c.1761A>G (p.Gln587=) c.1410A>G (p.Gln470=) | gnomAD v4 |
1 | g.155291772T>G | CA342750323 | PKLR | c.1602A>C (p.Gln534His) c.1509A>C (p.Gln503His) c.1761A>C (p.Gln587His) c.1410A>C (p.Gln470His) | gnomAD v4 |
1 | g.155291773T>A | CA342750339 | PKLR | c.1601A>T (p.Gln534Leu) c.1508A>T (p.Gln503Leu) c.1760A>T (p.Gln587Leu) c.1409A>T (p.Gln470Leu) | |
1 | g.155291773T>C | CA342750342 | PKLR | c.1601A>G (p.Gln534Arg) c.1508A>G (p.Gln503Arg) c.1760A>G (p.Gln587Arg) c.1409A>G (p.Gln470Arg) | gnomAD v4 |
1 | g.155291773T>G | CA342750345 | PKLR | c.1601A>C (p.Gln534Pro) c.1508A>C (p.Gln503Pro) c.1760A>C (p.Gln587Pro) c.1409A>C (p.Gln470Pro) | |
1 | g.155291774G>A | CA342750349 | PKLR | c.1600C>T (p.Gln534Ter) c.1507C>T (p.Gln503Ter) c.1759C>T (p.Gln587Ter) c.1408C>T (p.Gln470Ter) | |
1 | g.155291774G>C | CA342750352 | PKLR | c.1600C>G (p.Gln534Glu) c.1507C>G (p.Gln503Glu) c.1759C>G (p.Gln587Glu) c.1408C>G (p.Gln470Glu) | |
1 | g.155291774G>T | CA342750354 | PKLR | c.1600C>A (p.Gln534Lys) c.1507C>A (p.Gln503Lys) c.1759C>A (p.Gln587Lys) c.1408C>A (p.Gln470Lys) | gnomAD v4 |
1 | g.155291775C>A | CA1143961 | PKLR | c.1599G>T (p.Val533=) c.1506G>T (p.Val502=) c.1758G>T (p.Val586=) c.1407G>T (p.Val469=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291775C= | CA1143310564 | PKLR | c.1599G= (p.Val533=) c.1506G= (p.Val502=) c.1758G= (p.Val586=) c.1407G= (p.Val469=) | |
1 | g.155291775C>G | CA421020123 | PKLR | c.1599G>C (p.Val533=) c.1506G>C (p.Val502=) c.1758G>C (p.Val586=) c.1407G>C (p.Val469=) | |
1 | g.155291775C>T | CA421020124 | PKLR | c.1599G>A (p.Val533=) c.1506G>A (p.Val502=) c.1758G>A (p.Val586=) c.1407G>A (p.Val469=) | dbSNP gnomAD v4 |
1 | g.155291776A>C | CA342750365 | PKLR | c.1598T>G (p.Val533Gly) c.1505T>G (p.Val502Gly) c.1757T>G (p.Val586Gly) c.1406T>G (p.Val469Gly) | |
1 | g.155291776A>G | CA342750374 | PKLR | c.1598T>C (p.Val533Ala) c.1505T>C (p.Val502Ala) c.1757T>C (p.Val586Ala) c.1406T>C (p.Val469Ala) | |
1 | g.155291776A>T | CA342750375 | PKLR | c.1598T>A (p.Val533Glu) c.1505T>A (p.Val502Glu) c.1757T>A (p.Val586Glu) c.1406T>A (p.Val469Glu) | |
1 | g.155291777C>A | CA342750380 | PKLR | c.1597G>T (p.Val533Leu) c.1504G>T (p.Val502Leu) c.1756G>T (p.Val586Leu) c.1405G>T (p.Val469Leu) | |
1 | g.155291777C>G | CA342750382 | PKLR | c.1597G>C (p.Val533Leu) c.1504G>C (p.Val502Leu) c.1756G>C (p.Val586Leu) c.1405G>C (p.Val469Leu) | |
1 | g.155291777C>T | CA342750385 | PKLR | c.1597G>A (p.Val533Met) c.1504G>A (p.Val502Met) c.1756G>A (p.Val586Met) c.1405G>A (p.Val469Met) | |
1 | g.155291778C>A | CA421020125 | PKLR | c.1596G>T (p.Arg532=) c.1503G>T (p.Arg501=) c.1755G>T (p.Arg585=) c.1404G>T (p.Arg468=) | |
1 | g.155291778C= | CA2481225392 | PKLR | c.1596G= (p.Arg532=) c.1503G= (p.Arg501=) c.1755G= (p.Arg585=) c.1404G= (p.Arg468=) | |
1 | g.155291778C>G | CA1143962 | PKLR | c.1596G>C (p.Arg532=) c.1503G>C (p.Arg501=) c.1755G>C (p.Arg585=) c.1404G>C (p.Arg468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291778C>T | CA421020126 | PKLR | c.1596G>A (p.Arg532=) c.1503G>A (p.Arg501=) c.1755G>A (p.Arg585=) c.1404G>A (p.Arg468=) | |
1 | g.155291779C>A | CA342750401 | PKLR | c.1595G>T (p.Arg532Leu) c.1502G>T (p.Arg501Leu) c.1754G>T (p.Arg585Leu) c.1403G>T (p.Arg468Leu) | |
1 | g.155291779C= | CA2481225393 | PKLR | c.1595G= (p.Arg532=) c.1502G= (p.Arg501=) c.1754G= (p.Arg585=) c.1403G= (p.Arg468=) | |
1 | g.155291779C>G | CA342750396 | PKLR | c.1595G>C (p.Arg532Pro) c.1502G>C (p.Arg501Pro) c.1754G>C (p.Arg585Pro) c.1403G>C (p.Arg468Pro) | ClinVar dbSNP |
1 | g.155291779C>T | CA1143963 | PKLR | c.1595G>A (p.Arg532Gln) c.1502G>A (p.Arg501Gln) c.1754G>A (p.Arg585Gln) c.1403G>A (p.Arg468Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291780G>A | CA1143964 | PKLR | c.1594C>T (p.Arg532Trp) c.1501C>T (p.Arg501Trp) c.1753C>T (p.Arg585Trp) c.1402C>T (p.Arg468Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291780G>C | CA342750412 | PKLR | c.1594C>G (p.Arg532Gly) c.1501C>G (p.Arg501Gly) c.1753C>G (p.Arg585Gly) c.1402C>G (p.Arg468Gly) | dbSNP |
1 | g.155291780G= | CA1143470967 | PKLR | c.1594C= (p.Arg532=) c.1501C= (p.Arg501=) c.1753C= (p.Arg585=) c.1402C= (p.Arg468=) | |
1 | g.155291780G>T | CA421020127 | PKLR | c.1594C>A (p.Arg532=) c.1501C>A (p.Arg501=) c.1753C>A (p.Arg585=) c.1402C>A (p.Arg468=) | gnomAD v4 |
1 | g.155291782_155291813dup | CA2648267675 | PKLR | c.1563_1594dup (p.Arg532GlnfsTer9) c.1470_1501dup (p.Arg501GlnfsTer9) c.1722_1753dup (p.Arg585GlnfsTer9) c.1371_1402dup (p.Arg468GlnfsTer9) | gnomAD v4 |
1 | g.155291781G>A | CA421020130 | PKLR | c.1593C>T (p.Arg531=) c.1500C>T (p.Arg500=) c.1752C>T (p.Arg584=) c.1401C>T (p.Arg467=) | |
1 | g.155291781G>C | CA421020128 | PKLR | c.1593C>G (p.Arg531=) c.1500C>G (p.Arg500=) c.1752C>G (p.Arg584=) c.1401C>G (p.Arg467=) | |
1 | g.155291781G= | CA2481225394 | PKLR | c.1593C= (p.Arg531=) c.1500C= (p.Arg500=) c.1752C= (p.Arg584=) c.1401C= (p.Arg467=) | |
1 | g.155291781G>T | CA421020129 | PKLR | c.1593C>A (p.Arg531=) c.1500C>A (p.Arg500=) c.1752C>A (p.Arg584=) c.1401C>A (p.Arg467=) | dbSNP gnomAD v4 |
1 | g.155291782C>A | CA342750414 | PKLR | c.1592G>T (p.Arg531Leu) c.1499G>T (p.Arg500Leu) c.1751G>T (p.Arg584Leu) c.1400G>T (p.Arg467Leu) | |
1 | g.155291782C= | CA2481225395 | PKLR | c.1592G= (p.Arg531=) c.1499G= (p.Arg500=) c.1751G= (p.Arg584=) c.1400G= (p.Arg467=) | |
1 | g.155291782C>G | CA342750419 | PKLR | c.1592G>C (p.Arg531Pro) c.1499G>C (p.Arg500Pro) c.1751G>C (p.Arg584Pro) c.1400G>C (p.Arg467Pro) | |
1 | g.155291782C>T | CA30900234 | PKLR | c.1592G>A (p.Arg531His) c.1499G>A (p.Arg500His) c.1751G>A (p.Arg584His) c.1400G>A (p.Arg467His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291783G>A | CA342750424 | PKLR | c.1591C>T (p.Arg531Cys) c.1498C>T (p.Arg500Cys) c.1750C>T (p.Arg584Cys) c.1399C>T (p.Arg467Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.155291783G>C | CA342750425 | PKLR | c.1591C>G (p.Arg531Gly) c.1498C>G (p.Arg500Gly) c.1750C>G (p.Arg584Gly) c.1399C>G (p.Arg467Gly) | |
1 | g.155291783G= | CA2481225396 | PKLR | c.1591C= (p.Arg531=) c.1498C= (p.Arg500=) c.1750C= (p.Arg584=) c.1399C= (p.Arg467=) | |
1 | g.155291783G>T | CA342750426 | PKLR | c.1591C>A (p.Arg531Ser) c.1498C>A (p.Arg500Ser) c.1750C>A (p.Arg584Ser) c.1399C>A (p.Arg467Ser) | ClinVar dbSNP |
1 | g.155291784A>C | CA342750427 | PKLR | c.1590T>G (p.Asp530Glu) c.1497T>G (p.Asp499Glu) c.1749T>G (p.Asp583Glu) c.1398T>G (p.Asp466Glu) | |
1 | g.155291784A>G | CA421020131 | PKLR | c.1590T>C (p.Asp530=) c.1497T>C (p.Asp499=) c.1749T>C (p.Asp583=) c.1398T>C (p.Asp466=) | |
1 | g.155291784A>T | CA342750428 | PKLR | c.1590T>A (p.Asp530Glu) c.1497T>A (p.Asp499Glu) c.1749T>A (p.Asp583Glu) c.1398T>A (p.Asp466Glu) | |
1 | g.155291785T>A | CA342750432 | PKLR | c.1589A>T (p.Asp530Val) c.1496A>T (p.Asp499Val) c.1748A>T (p.Asp583Val) c.1397A>T (p.Asp466Val) | |
1 | g.155291785T>C | CA342750438 | PKLR | c.1589A>G (p.Asp530Gly) c.1496A>G (p.Asp499Gly) c.1748A>G (p.Asp583Gly) c.1397A>G (p.Asp466Gly) | |
1 | g.155291785T>G | CA342750440 | PKLR | c.1589A>C (p.Asp530Ala) c.1496A>C (p.Asp499Ala) c.1748A>C (p.Asp583Ala) c.1397A>C (p.Asp466Ala) | |
1 | g.155291786C>A | CA342750450 | PKLR | c.1588G>T (p.Asp530Tyr) c.1495G>T (p.Asp499Tyr) c.1747G>T (p.Asp583Tyr) c.1396G>T (p.Asp466Tyr) | |
1 | g.155291786C>G | CA342750445 | PKLR | c.1588G>C (p.Asp530His) c.1495G>C (p.Asp499His) c.1747G>C (p.Asp583His) c.1396G>C (p.Asp466His) | |
1 | g.155291786C>T | CA342750447 | PKLR | c.1588G>A (p.Asp530Asn) c.1495G>A (p.Asp499Asn) c.1747G>A (p.Asp583Asn) c.1396G>A (p.Asp466Asn) | gnomAD v4 |
1 | g.155291787T>A | CA421020132 | PKLR | c.1587A>T (p.Val529=) c.1494A>T (p.Val498=) c.1746A>T (p.Val582=) c.1395A>T (p.Val465=) | |
1 | g.155291787T>C | CA421020133 | PKLR | c.1587A>G (p.Val529=) c.1494A>G (p.Val498=) c.1746A>G (p.Val582=) c.1395A>G (p.Val465=) | |
1 | g.155291787T>G | CA421020134 | PKLR | c.1587A>C (p.Val529=) c.1494A>C (p.Val498=) c.1746A>C (p.Val582=) c.1395A>C (p.Val465=) | gnomAD v4 |
1 | g.155291788A>C | CA342750455 | PKLR | c.1586T>G (p.Val529Gly) c.1493T>G (p.Val498Gly) c.1745T>G (p.Val582Gly) c.1394T>G (p.Val465Gly) | |
1 | g.155291788A>G | CA342750457 | PKLR | c.1586T>C (p.Val529Ala) c.1493T>C (p.Val498Ala) c.1745T>C (p.Val582Ala) c.1394T>C (p.Val465Ala) | gnomAD v4 |
1 | g.155291788A>T | CA342750461 | PKLR | c.1586T>A (p.Val529Glu) c.1493T>A (p.Val498Glu) c.1745T>A (p.Val582Glu) c.1394T>A (p.Val465Glu) | |
1 | g.155291789C>A | CA342750469 | PKLR | c.1585G>T (p.Val529Leu) c.1492G>T (p.Val498Leu) c.1744G>T (p.Val582Leu) c.1393G>T (p.Val465Leu) | |
1 | g.155291789C= | CA2481225397 | PKLR | c.1585G= (p.Val529=) c.1492G= (p.Val498=) c.1744G= (p.Val582=) c.1393G= (p.Val465=) | |
1 | g.155291789C>G | CA342750473 | PKLR | c.1585G>C (p.Val529Leu) c.1492G>C (p.Val498Leu) c.1744G>C (p.Val582Leu) c.1393G>C (p.Val465Leu) | |
1 | g.155291789C>T | CA342750475 | PKLR | c.1585G>A (p.Val529Ile) c.1492G>A (p.Val498Ile) c.1744G>A (p.Val582Ile) c.1393G>A (p.Val465Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291790A>C | CA342750480 | PKLR | c.1584T>G (p.Asp528Glu) c.1491T>G (p.Asp497Glu) c.1743T>G (p.Asp581Glu) c.1392T>G (p.Asp464Glu) | |
1 | g.155291790A>G | CA421020135 | PKLR | c.1584T>C (p.Asp528=) c.1491T>C (p.Asp497=) c.1743T>C (p.Asp581=) c.1392T>C (p.Asp464=) | gnomAD v4 |
1 | g.155291790A>T | CA342750484 | PKLR | c.1584T>A (p.Asp528Glu) c.1491T>A (p.Asp497Glu) c.1743T>A (p.Asp581Glu) c.1392T>A (p.Asp464Glu) | |
1 | g.155291791T>A | CA342750488 | PKLR | c.1583A>T (p.Asp528Val) c.1490A>T (p.Asp497Val) c.1742A>T (p.Asp581Val) c.1391A>T (p.Asp464Val) | |
1 | g.155291791T>C | CA342750491 | PKLR | c.1583A>G (p.Asp528Gly) c.1490A>G (p.Asp497Gly) c.1742A>G (p.Asp581Gly) c.1391A>G (p.Asp464Gly) | |
1 | g.155291791T>G | CA342750493 | PKLR | c.1583A>C (p.Asp528Ala) c.1490A>C (p.Asp497Ala) c.1742A>C (p.Asp581Ala) c.1391A>C (p.Asp464Ala) | |
1 | g.155291792C>A | CA342750504 | PKLR | c.1582G>T (p.Asp528Tyr) c.1489G>T (p.Asp497Tyr) c.1741G>T (p.Asp581Tyr) c.1390G>T (p.Asp464Tyr) | COSMIC |
1 | g.155291792C>G | CA342750501 | PKLR | c.1582G>C (p.Asp528His) c.1489G>C (p.Asp497His) c.1741G>C (p.Asp581His) c.1390G>C (p.Asp464His) | |
1 | g.155291792C>T | CA342750496 | PKLR | c.1582G>A (p.Asp528Asn) c.1489G>A (p.Asp497Asn) c.1741G>A (p.Asp581Asn) c.1390G>A (p.Asp464Asn) | |
1 | g.155291793A= | CA2481225398 | PKLR | c.1581T= (p.Asp527=) c.1488T= (p.Asp496=) c.1740T= (p.Asp580=) c.1389T= (p.Asp463=) | |
1 | g.155291793A>C | CA342750509 | PKLR | c.1581T>G (p.Asp527Glu) c.1488T>G (p.Asp496Glu) c.1740T>G (p.Asp580Glu) c.1389T>G (p.Asp463Glu) | |
1 | g.155291793A>G | CA421020136 | PKLR | c.1581T>C (p.Asp527=) c.1488T>C (p.Asp496=) c.1740T>C (p.Asp580=) c.1389T>C (p.Asp463=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291793A>T | CA342750514 | PKLR | c.1581T>A (p.Asp527Glu) c.1488T>A (p.Asp496Glu) c.1740T>A (p.Asp580Glu) c.1389T>A (p.Asp463Glu) | |
1 | g.155291794T>A | CA342750519 | PKLR | c.1580A>T (p.Asp527Val) c.1487A>T (p.Asp496Val) c.1739A>T (p.Asp580Val) c.1388A>T (p.Asp463Val) | |
1 | g.155291794T>C | CA342750522 | PKLR | c.1580A>G (p.Asp527Gly) c.1487A>G (p.Asp496Gly) c.1739A>G (p.Asp580Gly) c.1388A>G (p.Asp463Gly) | |
1 | g.155291794T>G | CA342750528 | PKLR | c.1580A>C (p.Asp527Ala) c.1487A>C (p.Asp496Ala) c.1739A>C (p.Asp580Ala) c.1388A>C (p.Asp463Ala) | |
1 | g.155291795C>A | CA342750552 | PKLR | c.1579G>T (p.Asp527Tyr) c.1486G>T (p.Asp496Tyr) c.1738G>T (p.Asp580Tyr) c.1387G>T (p.Asp463Tyr) | |
1 | g.155291795C= | CA1148731904 | PKLR | c.1579G= (p.Asp527=) c.1486G= (p.Asp496=) c.1738G= (p.Asp580=) c.1387G= (p.Asp463=) | |
1 | g.155291795C>G | CA342750551 | PKLR | c.1579G>C (p.Asp527His) c.1486G>C (p.Asp496His) c.1738G>C (p.Asp580His) c.1387G>C (p.Asp463His) | |
1 | g.155291795C>T | CA1143965 | PKLR | c.1579G>A (p.Asp527Asn) c.1486G>A (p.Asp496Asn) c.1738G>A (p.Asp580Asn) c.1387G>A (p.Asp463Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291796T>A | CA421020137 | PKLR | c.1578A>T (p.Ala526=) c.1485A>T (p.Ala495=) c.1737A>T (p.Ala579=) c.1386A>T (p.Ala462=) | |
1 | g.155291796T>C | CA421020138 | PKLR | c.1578A>G (p.Ala526=) c.1485A>G (p.Ala495=) c.1737A>G (p.Ala579=) c.1386A>G (p.Ala462=) | |
1 | g.155291796T>G | CA421020139 | PKLR | c.1578A>C (p.Ala526=) c.1485A>C (p.Ala495=) c.1737A>C (p.Ala579=) c.1386A>C (p.Ala462=) | |
1 | g.155291797G>A | CA342750556 | PKLR | c.1577C>T (p.Ala526Val) c.1484C>T (p.Ala495Val) c.1736C>T (p.Ala579Val) c.1385C>T (p.Ala462Val) | |
1 | g.155291797G>C | CA342750562 | PKLR | c.1577C>G (p.Ala526Gly) c.1484C>G (p.Ala495Gly) c.1736C>G (p.Ala579Gly) c.1385C>G (p.Ala462Gly) | |
1 | g.155291797G>T | CA342750565 | PKLR | c.1577C>A (p.Ala526Glu) c.1484C>A (p.Ala495Glu) c.1736C>A (p.Ala579Glu) c.1385C>A (p.Ala462Glu) | |
1 | g.155291797_155291798delinsGC | CA2481225399 | PKLR | c.1576_1577delinsGC (p.Ala526=) c.1483_1484delinsGC (p.Ala495=) c.1735_1736delinsGC (p.Ala579=) c.1384_1385delinsGC (p.Ala462=) | |
1 | g.155291798C>A | CA342750568 | PKLR | c.1576G>T (p.Ala526Ser) c.1483G>T (p.Ala495Ser) c.1735G>T (p.Ala579Ser) c.1384G>T (p.Ala462Ser) | |
1 | g.155291798C>G | CA342750571 | PKLR | c.1576G>C (p.Ala526Pro) c.1483G>C (p.Ala495Pro) c.1735G>C (p.Ala579Pro) c.1384G>C (p.Ala462Pro) | |
1 | g.155291798C>T | CA342750574 | PKLR | c.1576G>A (p.Ala526Thr) c.1483G>A (p.Ala495Thr) c.1735G>A (p.Ala579Thr) c.1384G>A (p.Ala462Thr) | |
1 | g.155291800dup | CA2586967517 | PKLR | c.1576dup (p.Ala526GlyfsTer3) c.1483dup (p.Ala495GlyfsTer3) c.1735dup (p.Ala579GlyfsTer3) c.1384dup (p.Ala462GlyfsTer3) | |
1 | g.155291800del | CA526668869 | PKLR | c.1576del (p.Ala526GlnfsTer4) c.1483del (p.Ala495GlnfsTer4) c.1735del (p.Ala579GlnfsTer4) c.1384del (p.Ala462GlnfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291799C>A | CA342750583 | PKLR | c.1575G>T (p.Trp525Cys) c.1482G>T (p.Trp494Cys) c.1734G>T (p.Trp578Cys) c.1383G>T (p.Trp461Cys) | gnomAD v4 |
1 | g.155291799C>G | CA342750589 | PKLR | c.1575G>C (p.Trp525Cys) c.1482G>C (p.Trp494Cys) c.1734G>C (p.Trp578Cys) c.1383G>C (p.Trp461Cys) | |
1 | g.155291799C>T | CA342750585 | PKLR | c.1575G>A (p.Trp525Ter) c.1482G>A (p.Trp494Ter) c.1734G>A (p.Trp578Ter) c.1383G>A (p.Trp461Ter) | ClinVar dbSNP |
1 | g.155291800C>A | CA342750594 | PKLR | c.1574G>T (p.Trp525Leu) c.1481G>T (p.Trp494Leu) c.1733G>T (p.Trp578Leu) c.1382G>T (p.Trp461Leu) | |
1 | g.155291800C>G | CA342750597 | PKLR | c.1574G>C (p.Trp525Ser) c.1481G>C (p.Trp494Ser) c.1733G>C (p.Trp578Ser) c.1382G>C (p.Trp461Ser) | |
1 | g.155291800C>T | CA342750603 | PKLR | c.1574G>A (p.Trp525Ter) c.1481G>A (p.Trp494Ter) c.1733G>A (p.Trp578Ter) c.1382G>A (p.Trp461Ter) | |
1 | g.155291800_155291801delinsCA | CA2481225400 | PKLR | c.1573_1574delinsTG (p.Trp525=) c.1480_1481delinsTG (p.Trp494=) c.1732_1733delinsTG (p.Trp578=) c.1381_1382delinsTG (p.Trp461=) | |
1 | g.155291801del | CA526668870 | PKLR | c.1573del (p.Trp525GlyfsTer5) c.1480del (p.Trp494GlyfsTer5) c.1732del (p.Trp578GlyfsTer5) c.1381del (p.Trp461GlyfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291801A>C | CA342750607 | PKLR | c.1573T>G (p.Trp525Gly) c.1480T>G (p.Trp494Gly) c.1732T>G (p.Trp578Gly) c.1381T>G (p.Trp461Gly) | |
1 | g.155291801A>G | CA342750609 | PKLR | c.1573T>C (p.Trp525Arg) c.1480T>C (p.Trp494Arg) c.1732T>C (p.Trp578Arg) c.1381T>C (p.Trp461Arg) | |
1 | g.155291801A>T | CA342750611 | PKLR | c.1573T>A (p.Trp525Arg) c.1480T>A (p.Trp494Arg) c.1732T>A (p.Trp578Arg) c.1381T>A (p.Trp461Arg) | |
1 | g.155291802G>A | CA421020141 | PKLR | c.1572C>T (p.Ile524=) c.1479C>T (p.Ile493=) c.1731C>T (p.Ile577=) c.1380C>T (p.Ile460=) | gnomAD v4 |
1 | g.155291802G>C | CA342750615 | PKLR | c.1572C>G (p.Ile524Met) c.1479C>G (p.Ile493Met) c.1731C>G (p.Ile577Met) c.1380C>G (p.Ile460Met) | |
1 | g.155291802G>T | CA421020140 | PKLR | c.1572C>A (p.Ile524=) c.1479C>A (p.Ile493=) c.1731C>A (p.Ile577=) c.1380C>A (p.Ile460=) | |
1 | g.155291803A= | CA2481225401 | PKLR | c.1571T= (p.Ile524=) c.1478T= (p.Ile493=) c.1730T= (p.Ile577=) c.1379T= (p.Ile460=) | |
1 | g.155291803A>C | CA342750620 | PKLR | c.1571T>G (p.Ile524Ser) c.1478T>G (p.Ile493Ser) c.1730T>G (p.Ile577Ser) c.1379T>G (p.Ile460Ser) | |
1 | g.155291803A>G | CA342750623 | PKLR | c.1571T>C (p.Ile524Thr) c.1478T>C (p.Ile493Thr) c.1730T>C (p.Ile577Thr) c.1379T>C (p.Ile460Thr) | dbSNP |
1 | g.155291803A>T | CA342750628 | PKLR | c.1571T>A (p.Ile524Asn) c.1478T>A (p.Ile493Asn) c.1730T>A (p.Ile577Asn) c.1379T>A (p.Ile460Asn) | |
1 | g.155291804T>A | CA342750639 | PKLR | c.1570A>T (p.Ile524Phe) c.1477A>T (p.Ile493Phe) c.1729A>T (p.Ile577Phe) c.1378A>T (p.Ile460Phe) | gnomAD v4 |
1 | g.155291804T>C | CA342750637 | PKLR | c.1570A>G (p.Ile524Val) c.1477A>G (p.Ile493Val) c.1729A>G (p.Ile577Val) c.1378A>G (p.Ile460Val) | |
1 | g.155291804T>G | CA342750633 | PKLR | c.1570A>C (p.Ile524Leu) c.1477A>C (p.Ile493Leu) c.1729A>C (p.Ile577Leu) c.1378A>C (p.Ile460Leu) | |
1 | g.155291805G>A | CA421020142 | PKLR | c.1569C>T (p.Ala523=) c.1476C>T (p.Ala492=) c.1728C>T (p.Ala576=) c.1377C>T (p.Ala459=) | gnomAD v4 |
1 | g.155291805G>C | CA421020143 | PKLR | c.1569C>G (p.Ala523=) c.1476C>G (p.Ala492=) c.1728C>G (p.Ala576=) c.1377C>G (p.Ala459=) | |
1 | g.155291805G>T | CA421020144 | PKLR | c.1569C>A (p.Ala523=) c.1476C>A (p.Ala492=) c.1728C>A (p.Ala576=) c.1377C>A (p.Ala459=) | |
1 | g.155291806G>A | CA342750641 | PKLR | c.1568C>T (p.Ala523Val) c.1475C>T (p.Ala492Val) c.1727C>T (p.Ala576Val) c.1376C>T (p.Ala459Val) | |
1 | g.155291806G>C | CA342750643 | PKLR | c.1568C>G (p.Ala523Gly) c.1475C>G (p.Ala492Gly) c.1727C>G (p.Ala576Gly) c.1376C>G (p.Ala459Gly) | |
1 | g.155291806G= | CA2481225402 | PKLR | c.1568C= (p.Ala523=) c.1475C= (p.Ala492=) c.1727C= (p.Ala576=) c.1376C= (p.Ala459=) | |
1 | g.155291806G>T | CA342750648 | PKLR | c.1568C>A (p.Ala523Asp) c.1475C>A (p.Ala492Asp) c.1727C>A (p.Ala576Asp) c.1376C>A (p.Ala459Asp) | dbSNP |
1 | g.155291807C>A | CA342750649 | PKLR | c.1567G>T (p.Ala523Ser) c.1474G>T (p.Ala492Ser) c.1726G>T (p.Ala576Ser) c.1375G>T (p.Ala459Ser) | |
1 | g.155291807C>G | CA342750651 | PKLR | c.1567G>C (p.Ala523Pro) c.1474G>C (p.Ala492Pro) c.1726G>C (p.Ala576Pro) c.1375G>C (p.Ala459Pro) | |
1 | g.155291807C>T | CA342750659 | PKLR | c.1567G>A (p.Ala523Thr) c.1474G>A (p.Ala492Thr) c.1726G>A (p.Ala576Thr) c.1375G>A (p.Ala459Thr) | |
1 | g.155291808T>A | CA342750662 | PKLR | c.1566A>T (p.Glu522Asp) c.1473A>T (p.Glu491Asp) c.1725A>T (p.Glu575Asp) c.1374A>T (p.Glu458Asp) | |
1 | g.155291808T>C | CA421020146 | PKLR | c.1566A>G (p.Glu522=) c.1473A>G (p.Glu491=) c.1725A>G (p.Glu575=) c.1374A>G (p.Glu458=) | |
1 | g.155291808T>G | CA342750666 | PKLR | c.1566A>C (p.Glu522Asp) c.1473A>C (p.Glu491Asp) c.1725A>C (p.Glu575Asp) c.1374A>C (p.Glu458Asp) | |
1 | g.155291809T>A | CA342750669 | PKLR | c.1565A>T (p.Glu522Val) c.1472A>T (p.Glu491Val) c.1724A>T (p.Glu575Val) c.1373A>T (p.Glu458Val) | |
1 | g.155291809T>C | CA342750678 | PKLR | c.1565A>G (p.Glu522Gly) c.1472A>G (p.Glu491Gly) c.1724A>G (p.Glu575Gly) c.1373A>G (p.Glu458Gly) | |
1 | g.155291809T>G | CA342750680 | PKLR | c.1565A>C (p.Glu522Ala) c.1472A>C (p.Glu491Ala) c.1724A>C (p.Glu575Ala) c.1373A>C (p.Glu458Ala) | |
1 | g.155291810C>A | CA342750689 | PKLR | c.1564G>T (p.Glu522Ter) c.1471G>T (p.Glu491Ter) c.1723G>T (p.Glu575Ter) c.1372G>T (p.Glu458Ter) | COSMIC |
1 | g.155291810C= | CA2481225403 | PKLR | c.1564G= (p.Glu522=) c.1471G= (p.Glu491=) c.1723G= (p.Glu575=) c.1372G= (p.Glu458=) | |
1 | g.155291810C>G | CA342750691 | PKLR | c.1564G>C (p.Glu522Gln) c.1471G>C (p.Glu491Gln) c.1723G>C (p.Glu575Gln) c.1372G>C (p.Glu458Gln) | |
1 | g.155291810C>T | CA342750707 | PKLR | c.1564G>A (p.Glu522Lys) c.1471G>A (p.Glu491Lys) c.1723G>A (p.Glu575Lys) c.1372G>A (p.Glu458Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291811T>A | CA421020147 | PKLR | c.1563A>T (p.Pro521=) c.1470A>T (p.Pro490=) c.1722A>T (p.Pro574=) c.1371A>T (p.Pro457=) | |
1 | g.155291811T>C | CA421020148 | PKLR | c.1563A>G (p.Pro521=) c.1470A>G (p.Pro490=) c.1722A>G (p.Pro574=) c.1371A>G (p.Pro457=) | gnomAD v4 |
1 | g.155291811T>G | CA421020149 | PKLR | c.1563A>C (p.Pro521=) c.1470A>C (p.Pro490=) c.1722A>C (p.Pro574=) c.1371A>C (p.Pro457=) | |
1 | g.155291812G>A | CA342750715 | PKLR | c.1562C>T (p.Pro521Leu) c.1469C>T (p.Pro490Leu) c.1721C>T (p.Pro574Leu) c.1370C>T (p.Pro457Leu) | |
1 | g.155291812G>C | CA342750712 | PKLR | c.1562C>G (p.Pro521Arg) c.1469C>G (p.Pro490Arg) c.1721C>G (p.Pro574Arg) c.1370C>G (p.Pro457Arg) | |
1 | g.155291812G>T | CA342750710 | PKLR | c.1562C>A (p.Pro521Gln) c.1469C>A (p.Pro490Gln) c.1721C>A (p.Pro574Gln) c.1370C>A (p.Pro457Gln) | |
1 | g.155291813G>A | CA1143966 | PKLR | c.1561C>T (p.Pro521Ser) c.1468C>T (p.Pro490Ser) c.1720C>T (p.Pro574Ser) c.1369C>T (p.Pro457Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291813G>C | CA342750716 | PKLR | c.1561C>G (p.Pro521Ala) c.1468C>G (p.Pro490Ala) c.1720C>G (p.Pro574Ala) c.1369C>G (p.Pro457Ala) | |
1 | g.155291813G= | CA2481225404 | PKLR | c.1561C= (p.Pro521=) c.1468C= (p.Pro490=) c.1720C= (p.Pro574=) c.1369C= (p.Pro457=) | |
1 | g.155291813G>T | CA342750719 | PKLR | c.1561C>A (p.Pro521Thr) c.1468C>A (p.Pro490Thr) c.1720C>A (p.Pro574Thr) c.1369C>A (p.Pro457Thr) | |
1 | g.155291814A>C | CA421020150 | PKLR | c.1560T>G (p.Pro520=) c.1467T>G (p.Pro489=) c.1719T>G (p.Pro573=) c.1368T>G (p.Pro456=) | |
1 | g.155291814A>G | CA421020151 | PKLR | c.1560T>C (p.Pro520=) c.1467T>C (p.Pro489=) c.1719T>C (p.Pro573=) c.1368T>C (p.Pro456=) | |
1 | g.155291814A>T | CA421020152 | PKLR | c.1560T>A (p.Pro520=) c.1467T>A (p.Pro489=) c.1719T>A (p.Pro573=) c.1368T>A (p.Pro456=) | |
1 | g.155291815G>A | CA342750721 | PKLR | c.1559C>T (p.Pro520Leu) c.1466C>T (p.Pro489Leu) c.1718C>T (p.Pro573Leu) c.1367C>T (p.Pro456Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291815G>C | CA342750723 | PKLR | c.1559C>G (p.Pro520Arg) c.1466C>G (p.Pro489Arg) c.1718C>G (p.Pro573Arg) c.1367C>G (p.Pro456Arg) | gnomAD v4 |
1 | g.155291815G= | CA2481225405 | PKLR | c.1559C= (p.Pro520=) c.1466C= (p.Pro489=) c.1718C= (p.Pro573=) c.1367C= (p.Pro456=) | |
1 | g.155291815G>T | CA342750726 | PKLR | c.1559C>A (p.Pro520His) c.1466C>A (p.Pro489His) c.1718C>A (p.Pro573His) c.1367C>A (p.Pro456His) | |
1 | g.155291816G>A | CA30900238 | PKLR | c.1558C>T (p.Pro520Ser) c.1465C>T (p.Pro489Ser) c.1717C>T (p.Pro573Ser) c.1366C>T (p.Pro456Ser) | dbSNP |
1 | g.155291816G>C | CA342750730 | PKLR | c.1558C>G (p.Pro520Ala) c.1465C>G (p.Pro489Ala) c.1717C>G (p.Pro573Ala) c.1366C>G (p.Pro456Ala) | |
1 | g.155291816G= | CA1146906730 | PKLR | c.1558C= (p.Pro520=) c.1465C= (p.Pro489=) c.1717C= (p.Pro573=) c.1366C= (p.Pro456=) | |
1 | g.155291816G>T | CA1143967 | PKLR | c.1558C>A (p.Pro520Thr) c.1465C>A (p.Pro489Thr) c.1717C>A (p.Pro573Thr) c.1366C>A (p.Pro456Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291817_155291822del | CA2586967518 | PKLR | c.1553_1558del (p.Arg518_Glu519del) c.1460_1465del (p.Arg487_Glu488del) c.1712_1717del (p.Arg571_Glu572del) c.1361_1366del (p.Arg454_Glu455del) | |
1 | g.155291817T>A | CA342750735 | PKLR | c.1557A>T (p.Glu519Asp) c.1464A>T (p.Glu488Asp) c.1716A>T (p.Glu572Asp) c.1365A>T (p.Glu455Asp) | |
1 | g.155291817T>C | CA421020153 | PKLR | c.1557A>G (p.Glu519=) c.1464A>G (p.Glu488=) c.1716A>G (p.Glu572=) c.1365A>G (p.Glu455=) | |
1 | g.155291817T>G | CA30900243 | PKLR | c.1557A>C (p.Glu519Asp) c.1464A>C (p.Glu488Asp) c.1716A>C (p.Glu572Asp) c.1365A>C (p.Glu455Asp) | dbSNP |
1 | g.155291817T= | CA2481225406 | PKLR | c.1557A= (p.Glu519=) c.1464A= (p.Glu488=) c.1716A= (p.Glu572=) c.1365A= (p.Glu455=) | |
1 | g.155291818T>A | CA342750749 | PKLR | c.1556A>T (p.Glu519Val) c.1463A>T (p.Glu488Val) c.1715A>T (p.Glu572Val) c.1364A>T (p.Glu455Val) | |
1 | g.155291818T>C | CA342750752 | PKLR | c.1556A>G (p.Glu519Gly) c.1463A>G (p.Glu488Gly) c.1715A>G (p.Glu572Gly) c.1364A>G (p.Glu455Gly) | |
1 | g.155291818T>G | CA342750754 | PKLR | c.1556A>C (p.Glu519Ala) c.1463A>C (p.Glu488Ala) c.1715A>C (p.Glu572Ala) c.1364A>C (p.Glu455Ala) | |
1 | g.155291819C>A | CA342750760 | PKLR | c.1555G>T (p.Glu519Ter) c.1462G>T (p.Glu488Ter) c.1714G>T (p.Glu572Ter) c.1363G>T (p.Glu455Ter) | |
1 | g.155291819C= | CA2481225407 | PKLR | c.1555G= (p.Glu519=) c.1462G= (p.Glu488=) c.1714G= (p.Glu572=) c.1363G= (p.Glu455=) | |
1 | g.155291819C>G | CA342750763 | PKLR | c.1555G>C (p.Glu519Gln) c.1462G>C (p.Glu488Gln) c.1714G>C (p.Glu572Gln) c.1363G>C (p.Glu455Gln) | dbSNP gnomAD v4 |
1 | g.155291819C>T | CA342750757 | PKLR | c.1555G>A (p.Glu519Lys) c.1462G>A (p.Glu488Lys) c.1714G>A (p.Glu572Lys) c.1363G>A (p.Glu455Lys) | ClinVar gnomAD v4 |
1 | g.155291820A= | CA1149126240 | PKLR | c.1554T= (p.Arg518=) c.1461T= (p.Arg487=) c.1713T= (p.Arg571=) c.1362T= (p.Arg454=) | |
1 | g.155291820A>C | CA421020154 | PKLR | c.1554T>G (p.Arg518=) c.1461T>G (p.Arg487=) c.1713T>G (p.Arg571=) c.1362T>G (p.Arg454=) | |
1 | g.155291820A>G | CA421020155 | PKLR | c.1554T>C (p.Arg518=) c.1461T>C (p.Arg487=) c.1713T>C (p.Arg571=) c.1362T>C (p.Arg454=) | |
1 | g.155291820A>T | CA1143968 | PKLR | c.1554T>A (p.Arg518=) c.1461T>A (p.Arg487=) c.1713T>A (p.Arg571=) c.1362T>A (p.Arg454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291821del | CA2586967519 | PKLR | c.1553del (p.Arg518LeufsTer12) c.1460del (p.Arg487LeufsTer12) c.1712del (p.Arg571LeufsTer12) c.1361del (p.Arg454LeufsTer12) | |
1 | g.155291821C>A | CA342750770 | PKLR | c.1553G>T (p.Arg518Leu) c.1460G>T (p.Arg487Leu) c.1712G>T (p.Arg571Leu) c.1361G>T (p.Arg454Leu) | |
1 | g.155291821C= | CA2481225408 | PKLR | c.1553G= (p.Arg518=) c.1460G= (p.Arg487=) c.1712G= (p.Arg571=) c.1361G= (p.Arg454=) | |
1 | g.155291821C>G | CA342750771 | PKLR | c.1553G>C (p.Arg518Pro) c.1460G>C (p.Arg487Pro) c.1712G>C (p.Arg571Pro) c.1361G>C (p.Arg454Pro) | |
1 | g.155291821C>T | CA1143969 | PKLR | c.1553G>A (p.Arg518His) c.1460G>A (p.Arg487His) c.1712G>A (p.Arg571His) c.1361G>A (p.Arg454His) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.155291822G>A | CA1143970 | PKLR | c.1552C>T (p.Arg518Cys) c.1459C>T (p.Arg487Cys) c.1711C>T (p.Arg571Cys) c.1360C>T (p.Arg454Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291822G>C | CA342750776 | PKLR | c.1552C>G (p.Arg518Gly) c.1459C>G (p.Arg487Gly) c.1711C>G (p.Arg571Gly) c.1360C>G (p.Arg454Gly) | |
1 | g.155291822G= | CA1141653696 | PKLR | c.1552C= (p.Arg518=) c.1459C= (p.Arg487=) c.1711C= (p.Arg571=) c.1360C= (p.Arg454=) | |
1 | g.155291822G>T | CA342750782 | PKLR | c.1552C>A (p.Arg518Ser) c.1459C>A (p.Arg487Ser) c.1711C>A (p.Arg571Ser) c.1360C>A (p.Arg454Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291823G>A | CA421020156 | PKLR | c.1551C>T (p.Tyr517=) c.1458C>T (p.Tyr486=) c.1710C>T (p.Tyr570=) c.1359C>T (p.Tyr453=) | gnomAD v4 |
1 | g.155291823G>C | CA342750786 | PKLR | c.1551C>G (p.Tyr517Ter) c.1458C>G (p.Tyr486Ter) c.1710C>G (p.Tyr570Ter) c.1359C>G (p.Tyr453Ter) | |
1 | g.155291823G>T | CA342750789 | PKLR | c.1551C>A (p.Tyr517Ter) c.1458C>A (p.Tyr486Ter) c.1710C>A (p.Tyr570Ter) c.1359C>A (p.Tyr453Ter) | |
1 | g.155291824T>A | CA342750811 | PKLR | c.1550A>T (p.Tyr517Phe) c.1457A>T (p.Tyr486Phe) c.1709A>T (p.Tyr570Phe) c.1358A>T (p.Tyr453Phe) | |
1 | g.155291824T>C | CA342750813 | PKLR | c.1550A>G (p.Tyr517Cys) c.1457A>G (p.Tyr486Cys) c.1709A>G (p.Tyr570Cys) c.1358A>G (p.Tyr453Cys) | |
1 | g.155291824T>G | CA342750816 | PKLR | c.1550A>C (p.Tyr517Ser) c.1457A>C (p.Tyr486Ser) c.1709A>C (p.Tyr570Ser) c.1358A>C (p.Tyr453Ser) | dbSNP |
1 | g.155291825A>C | CA342750824 | PKLR | c.1549T>G (p.Tyr517Asp) c.1456T>G (p.Tyr486Asp) c.1708T>G (p.Tyr570Asp) c.1357T>G (p.Tyr453Asp) | |
1 | g.155291825A>G | CA342750831 | PKLR | c.1549T>C (p.Tyr517His) c.1456T>C (p.Tyr486His) c.1708T>C (p.Tyr570His) c.1357T>C (p.Tyr453His) | |
1 | g.155291825A>T | CA342750822 | PKLR | c.1549T>A (p.Tyr517Asn) c.1456T>A (p.Tyr486Asn) c.1708T>A (p.Tyr570Asn) c.1357T>A (p.Tyr453Asn) | |
1 | g.155291826A>C | CA421020157 | PKLR | c.1548T>G (p.Leu516=) c.1455T>G (p.Leu485=) c.1707T>G (p.Leu569=) c.1356T>G (p.Leu452=) | |
1 | g.155291826A>G | CA421020158 | PKLR | c.1548T>C (p.Leu516=) c.1455T>C (p.Leu485=) c.1707T>C (p.Leu569=) c.1356T>C (p.Leu452=) | |
1 | g.155291826A>T | CA421020159 | PKLR | c.1548T>A (p.Leu516=) c.1455T>A (p.Leu485=) c.1707T>A (p.Leu569=) c.1356T>A (p.Leu452=) | |
1 | g.155291827A= | CA2481225409 | PKLR | c.1547T= (p.Leu516=) c.1454T= (p.Leu485=) c.1706T= (p.Leu569=) c.1355T= (p.Leu452=) | |
1 | g.155291827A>C | CA342750834 | PKLR | c.1547T>G (p.Leu516Arg) c.1454T>G (p.Leu485Arg) c.1706T>G (p.Leu569Arg) c.1355T>G (p.Leu452Arg) | |
1 | g.155291827A>G | CA30900269 | PKLR | c.1547T>C (p.Leu516Pro) c.1454T>C (p.Leu485Pro) c.1706T>C (p.Leu569Pro) c.1355T>C (p.Leu452Pro) | dbSNP |
1 | g.155291827A>T | CA342750840 | PKLR | c.1547T>A (p.Leu516His) c.1454T>A (p.Leu485His) c.1706T>A (p.Leu569His) c.1355T>A (p.Leu452His) | |
1 | g.155291828G>A | CA342750851 | PKLR | c.1546C>T (p.Leu516Phe) c.1453C>T (p.Leu485Phe) c.1705C>T (p.Leu569Phe) c.1354C>T (p.Leu452Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291828G>C | CA342750852 | PKLR | c.1546C>G (p.Leu516Val) c.1453C>G (p.Leu485Val) c.1705C>G (p.Leu569Val) c.1354C>G (p.Leu452Val) | gnomAD v4 |
1 | g.155291828G= | CA2481225410 | PKLR | c.1546C= (p.Leu516=) c.1453C= (p.Leu485=) c.1705C= (p.Leu569=) c.1354C= (p.Leu452=) | |
1 | g.155291828G>T | CA342750854 | PKLR | c.1546C>A (p.Leu516Ile) c.1453C>A (p.Leu485Ile) c.1705C>A (p.Leu569Ile) c.1354C>A (p.Leu452Ile) | |
1 | g.155291829C>A | CA342750860 | PKLR | c.1545G>T (p.Leu515Phe) c.1452G>T (p.Leu484Phe) c.1704G>T (p.Leu568Phe) c.1353G>T (p.Leu451Phe) | |
1 | g.155291829C>G | CA342750861 | PKLR | c.1545G>C (p.Leu515Phe) c.1452G>C (p.Leu484Phe) c.1704G>C (p.Leu568Phe) c.1353G>C (p.Leu451Phe) | |
1 | g.155291829C>T | CA421020160 | PKLR | c.1545G>A (p.Leu515=) c.1452G>A (p.Leu484=) c.1704G>A (p.Leu568=) c.1353G>A (p.Leu451=) | |
1 | g.155291830A= | CA2481225411 | PKLR | c.1544T= (p.Leu515=) c.1451T= (p.Leu484=) c.1703T= (p.Leu568=) c.1352T= (p.Leu451=) | |
1 | g.155291830A>C | CA342750862 | PKLR | c.1544T>G (p.Leu515Trp) c.1451T>G (p.Leu484Trp) c.1703T>G (p.Leu568Trp) c.1352T>G (p.Leu451Trp) | |
1 | g.155291830A>G | CA342750863 | PKLR | c.1544T>C (p.Leu515Ser) c.1451T>C (p.Leu484Ser) c.1703T>C (p.Leu568Ser) c.1352T>C (p.Leu451Ser) | dbSNP |
1 | g.155291830A>T | CA342750864 | PKLR | c.1544T>A (p.Leu515Ter) c.1451T>A (p.Leu484Ter) c.1703T>A (p.Leu568Ter) c.1352T>A (p.Leu451Ter) | |
1 | g.155291831A>C | CA342750867 | PKLR | c.1543T>G (p.Leu515Val) c.1450T>G (p.Leu484Val) c.1702T>G (p.Leu568Val) c.1351T>G (p.Leu451Val) | |
1 | g.155291831A>G | CA421020161 | PKLR | c.1543T>C (p.Leu515=) c.1450T>C (p.Leu484=) c.1702T>C (p.Leu568=) c.1351T>C (p.Leu451=) | |
1 | g.155291831A>T | CA342750874 | PKLR | c.1543T>A (p.Leu515Met) c.1450T>A (p.Leu484Met) c.1702T>A (p.Leu568Met) c.1351T>A (p.Leu451Met) | |
1 | g.155291832G>A | CA421020164 | PKLR | c.1542C>T (p.Pro514=) c.1449C>T (p.Pro483=) c.1701C>T (p.Pro567=) c.1350C>T (p.Pro450=) | |
1 | g.155291832G>C | CA421020163 | PKLR | c.1542C>G (p.Pro514=) c.1449C>G (p.Pro483=) c.1701C>G (p.Pro567=) c.1350C>G (p.Pro450=) | |
1 | g.155291832G>T | CA421020162 | PKLR | c.1542C>A (p.Pro514=) c.1449C>A (p.Pro483=) c.1701C>A (p.Pro567=) c.1350C>A (p.Pro450=) | |
1 | g.155291835dup | CA2580061122 | PKLR | c.1542dup (p.Leu516AlafsTer4) c.1449dup (p.Leu485AlafsTer4) c.1701dup (p.Leu569AlafsTer4) c.1350dup (p.Leu452AlafsTer4) | ClinVar |
1 | g.155291833G>A | CA342750879 | PKLR | c.1541C>T (p.Pro514Leu) c.1448C>T (p.Pro483Leu) c.1700C>T (p.Pro567Leu) c.1349C>T (p.Pro450Leu) | |
1 | g.155291833G>C | CA342750882 | PKLR | c.1541C>G (p.Pro514Arg) c.1448C>G (p.Pro483Arg) c.1700C>G (p.Pro567Arg) c.1349C>G (p.Pro450Arg) | gnomAD v4 |
1 | g.155291833G>T | CA342750881 | PKLR | c.1541C>A (p.Pro514His) c.1448C>A (p.Pro483His) c.1700C>A (p.Pro567His) c.1349C>A (p.Pro450His) | |
1 | g.155291834G>A | CA342750883 | PKLR | c.1540C>T (p.Pro514Ser) c.1447C>T (p.Pro483Ser) c.1699C>T (p.Pro567Ser) c.1348C>T (p.Pro450Ser) | |
1 | g.155291834G>C | CA342750890 | PKLR | c.1540C>G (p.Pro514Ala) c.1447C>G (p.Pro483Ala) c.1699C>G (p.Pro567Ala) c.1348C>G (p.Pro450Ala) | |
1 | g.155291834G>T | CA342750886 | PKLR | c.1540C>A (p.Pro514Thr) c.1447C>A (p.Pro483Thr) c.1699C>A (p.Pro567Thr) c.1348C>A (p.Pro450Thr) | |
1 | g.155291835G>A | CA1143971 | PKLR | c.1539C>T (p.Phe513=) c.1446C>T (p.Phe482=) c.1698C>T (p.Phe566=) c.1347C>T (p.Phe449=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291835G>C | CA342750896 | PKLR | c.1539C>G (p.Phe513Leu) c.1446C>G (p.Phe482Leu) c.1698C>G (p.Phe566Leu) c.1347C>G (p.Phe449Leu) | |
1 | g.155291835G= | CA1143799118 | PKLR | c.1539C= (p.Phe513=) c.1446C= (p.Phe482=) c.1698C= (p.Phe566=) c.1347C= (p.Phe449=) | |
1 | g.155291835G>T | CA342750903 | PKLR | c.1539C>A (p.Phe513Leu) c.1446C>A (p.Phe482Leu) c.1698C>A (p.Phe566Leu) c.1347C>A (p.Phe449Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291836A>C | CA342750906 | PKLR | c.1538T>G (p.Phe513Cys) c.1445T>G (p.Phe482Cys) c.1697T>G (p.Phe566Cys) c.1346T>G (p.Phe449Cys) | |
1 | g.155291836A>G | CA342750908 | PKLR | c.1538T>C (p.Phe513Ser) c.1445T>C (p.Phe482Ser) c.1697T>C (p.Phe566Ser) c.1346T>C (p.Phe449Ser) | |
1 | g.155291836A>T | CA342750912 | PKLR | c.1538T>A (p.Phe513Tyr) c.1445T>A (p.Phe482Tyr) c.1697T>A (p.Phe566Tyr) c.1346T>A (p.Phe449Tyr) | |
1 | g.155291837A= | CA2481225412 | PKLR | c.1537T= (p.Phe513=) c.1444T= (p.Phe482=) c.1696T= (p.Phe566=) c.1345T= (p.Phe449=) | |
1 | g.155291837A>C | CA342750917 | PKLR | c.1537T>G (p.Phe513Val) c.1444T>G (p.Phe482Val) c.1696T>G (p.Phe566Val) c.1345T>G (p.Phe449Val) | |
1 | g.155291837A>G | CA342750919 | PKLR | c.1537T>C (p.Phe513Leu) c.1444T>C (p.Phe482Leu) c.1696T>C (p.Phe566Leu) c.1345T>C (p.Phe449Leu) | dbSNP |
1 | g.155291837A>T | CA342750921 | PKLR | c.1537T>A (p.Phe513Ile) c.1444T>A (p.Phe482Ile) c.1696T>A (p.Phe566Ile) c.1345T>A (p.Phe449Ile) | |
1 | g.155291838G>A | CA421020165 | PKLR | c.1536C>T (p.Val512=) c.1443C>T (p.Val481=) c.1695C>T (p.Val565=) c.1344C>T (p.Val448=) | |
1 | g.155291838G>C | CA421020166 | PKLR | c.1536C>G (p.Val512=) c.1443C>G (p.Val481=) c.1695C>G (p.Val565=) c.1344C>G (p.Val448=) | |
1 | g.155291838G>T | CA421020167 | PKLR | c.1536C>A (p.Val512=) c.1443C>A (p.Val481=) c.1695C>A (p.Val565=) c.1344C>A (p.Val448=) | |
1 | g.155291839A>C | CA342750922 | PKLR | c.1535T>G (p.Val512Gly) c.1442T>G (p.Val481Gly) c.1694T>G (p.Val565Gly) c.1343T>G (p.Val448Gly) | |
1 | g.155291839A>G | CA342750923 | PKLR | c.1535T>C (p.Val512Ala) c.1442T>C (p.Val481Ala) c.1694T>C (p.Val565Ala) c.1343T>C (p.Val448Ala) | gnomAD v4 |
1 | g.155291839A>T | CA342750926 | PKLR | c.1535T>A (p.Val512Asp) c.1442T>A (p.Val481Asp) c.1694T>A (p.Val565Asp) c.1343T>A (p.Val448Asp) | |
1 | g.155291840C>A | CA342750936 | PKLR | c.1534G>T (p.Val512Phe) c.1441G>T (p.Val481Phe) c.1693G>T (p.Val565Phe) c.1342G>T (p.Val448Phe) | |
1 | g.155291840C>G | CA342750934 | PKLR | c.1534G>C (p.Val512Leu) c.1441G>C (p.Val481Leu) c.1693G>C (p.Val565Leu) c.1342G>C (p.Val448Leu) | |
1 | g.155291840C>T | CA342750935 | PKLR | c.1534G>A (p.Val512Ile) c.1441G>A (p.Val481Ile) c.1693G>A (p.Val565Ile) c.1342G>A (p.Val448Ile) | |
1 | g.155291843_155291845del | CA2648267771 | PKLR | c.1532_1534del (p.Gly511del) c.1439_1441del (p.Gly480del) c.1691_1693del (p.Gly564del) c.1340_1342del (p.Gly447del) | gnomAD v4 |
1 | g.155291841T>A | CA421020168 | PKLR | c.1533A>T (p.Gly511=) c.1440A>T (p.Gly480=) c.1692A>T (p.Gly564=) c.1341A>T (p.Gly447=) | |
1 | g.155291841T>C | CA421020169 | PKLR | c.1533A>G (p.Gly511=) c.1440A>G (p.Gly480=) c.1692A>G (p.Gly564=) c.1341A>G (p.Gly447=) | |
1 | g.155291841T>G | CA421020170 | PKLR | c.1533A>C (p.Gly511=) c.1440A>C (p.Gly480=) c.1692A>C (p.Gly564=) c.1341A>C (p.Gly447=) | |
1 | g.155291842C>A | CA342750937 | PKLR | c.1532G>T (p.Gly511Val) c.1439G>T (p.Gly480Val) c.1691G>T (p.Gly564Val) c.1340G>T (p.Gly447Val) | |
1 | g.155291842C>G | CA342750939 | PKLR | c.1532G>C (p.Gly511Ala) c.1439G>C (p.Gly480Ala) c.1691G>C (p.Gly564Ala) c.1340G>C (p.Gly447Ala) | |
1 | g.155291842C>T | CA342750941 | PKLR | c.1532G>A (p.Gly511Glu) c.1439G>A (p.Gly480Glu) c.1691G>A (p.Gly564Glu) c.1340G>A (p.Gly447Glu) | |
1 | g.155291843C>A | CA342750946 | PKLR | c.1531G>T (p.Gly511Ter) c.1438G>T (p.Gly480Ter) c.1690G>T (p.Gly564Ter) c.1339G>T (p.Gly447Ter) | |
1 | g.155291843C= | CA2481225413 | PKLR | c.1531G= (p.Gly511=) c.1438G= (p.Gly480=) c.1690G= (p.Gly564=) c.1339G= (p.Gly447=) | |
1 | g.155291843C>G | CA342750951 | PKLR | c.1531G>C (p.Gly511Arg) c.1438G>C (p.Gly480Arg) c.1690G>C (p.Gly564Arg) c.1339G>C (p.Gly447Arg) | |
1 | g.155291843C>T | CA342750954 | PKLR | c.1531G>A (p.Gly511Arg) c.1438G>A (p.Gly480Arg) c.1690G>A (p.Gly564Arg) c.1339G>A (p.Gly447Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291844T>A | CA421020171 | PKLR | c.1530A>T (p.Arg510=) c.1437A>T (p.Arg479=) c.1689A>T (p.Arg563=) c.1338A>T (p.Arg446=) | |
1 | g.155291844T>C | CA421020172 | PKLR | c.1530A>G (p.Arg510=) c.1437A>G (p.Arg479=) c.1689A>G (p.Arg563=) c.1338A>G (p.Arg446=) | |
1 | g.155291844T>G | CA421020173 | PKLR | c.1530A>C (p.Arg510=) c.1437A>C (p.Arg479=) c.1689A>C (p.Arg563=) c.1338A>C (p.Arg446=) | |
1 | g.155291845C>A | CA342750962 | PKLR | c.1529G>T (p.Arg510Leu) c.1436G>T (p.Arg479Leu) c.1688G>T (p.Arg563Leu) c.1337G>T (p.Arg446Leu) | gnomAD v4 |
1 | g.155291845C= | CA1141334538 | PKLR | c.1529G= (p.Arg510=) c.1436G= (p.Arg479=) c.1688G= (p.Arg563=) c.1337G= (p.Arg446=) | |
1 | g.155291845C>G | CA342750964 | PKLR | c.1529G>C (p.Arg510Pro) c.1436G>C (p.Arg479Pro) c.1688G>C (p.Arg563Pro) c.1337G>C (p.Arg446Pro) | |
1 | g.155291845C>T | CA215079 | PKLR | c.1529G>A (p.Arg510Gln) c.1436G>A (p.Arg479Gln) c.1688G>A (p.Arg563Gln) c.1337G>A (p.Arg446Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |