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) |