| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155294626A>C | CA342754281 | PKLR | c.821T>G (p.Phe274Cys) c.728T>G (p.Phe243Cys) c.980T>G (p.Phe327Cys) c.629T>G (p.Phe210Cys) | |
| 1 | g.155294626A>G | CA342754282 | PKLR | c.821T>C (p.Phe274Ser) c.728T>C (p.Phe243Ser) c.980T>C (p.Phe327Ser) c.629T>C (p.Phe210Ser) | |
| 1 | g.155294626A>T | CA342754283 | PKLR | c.821T>A (p.Phe274Tyr) c.728T>A (p.Phe243Tyr) c.980T>A (p.Phe327Tyr) c.629T>A (p.Phe210Tyr) | |
| 1 | g.155294627A>C | CA342754284 | PKLR | c.820T>G (p.Phe274Val) c.727T>G (p.Phe243Val) c.979T>G (p.Phe327Val) c.628T>G (p.Phe210Val) | |
| 1 | g.155294627A>G | CA342754285 | PKLR | c.820T>C (p.Phe274Leu) c.727T>C (p.Phe243Leu) c.979T>C (p.Phe327Leu) c.628T>C (p.Phe210Leu) | |
| 1 | g.155294627A>T | CA342754286 | PKLR | c.820T>A (p.Phe274Ile) c.727T>A (p.Phe243Ile) c.979T>A (p.Phe327Ile) c.628T>A (p.Phe210Ile) | |
| 1 | g.155294628G>A | CA421245674 | PKLR | c.819C>T (p.Arg273=) c.726C>T (p.Arg242=) c.978C>T (p.Arg326=) c.627C>T (p.Arg209=) | |
| 1 | g.155294628G>C | CA421245675 | PKLR | c.819C>G (p.Arg273=) c.726C>G (p.Arg242=) c.978C>G (p.Arg326=) c.627C>G (p.Arg209=) | |
| 1 | g.155294628G>T | CA421245676 | PKLR | c.819C>A (p.Arg273=) c.726C>A (p.Arg242=) c.978C>A (p.Arg326=) c.627C>A (p.Arg209=) | |
| 1 | g.155294629C>A | CA342754290 | PKLR | c.818G>T (p.Arg273Leu) c.725G>T (p.Arg242Leu) c.977G>T (p.Arg326Leu) c.626G>T (p.Arg209Leu) | |
| 1 | g.155294629C= | CA1141802474 | PKLR | c.818G= (p.Arg273=) c.725G= (p.Arg242=) c.977G= (p.Arg326=) c.626G= (p.Arg209=) | |
| 1 | g.155294629C>G | CA342754291 | PKLR | c.818G>C (p.Arg273Pro) c.725G>C (p.Arg242Pro) c.977G>C (p.Arg326Pro) c.626G>C (p.Arg209Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155294629C>T | CA1144202 | PKLR | c.818G>A (p.Arg273His) c.725G>A (p.Arg242His) c.977G>A (p.Arg326His) c.626G>A (p.Arg209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294630G>A | CA1144203 | PKLR | c.817C>T (p.Arg273Cys) c.724C>T (p.Arg242Cys) c.976C>T (p.Arg326Cys) c.625C>T (p.Arg209Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155294630G>C | CA342754298 | PKLR | c.817C>G (p.Arg273Gly) c.724C>G (p.Arg242Gly) c.976C>G (p.Arg326Gly) c.625C>G (p.Arg209Gly) | |
| 1 | g.155294630G= | CA1148560049 | PKLR | c.817C= (p.Arg273=) c.724C= (p.Arg242=) c.976C= (p.Arg326=) c.625C= (p.Arg209=) | |
| 1 | g.155294630G>T | CA342754295 | PKLR | c.817C>A (p.Arg273Ser) c.724C>A (p.Arg242Ser) c.976C>A (p.Arg326Ser) c.625C>A (p.Arg209Ser) | gnomAD v4 |
| 1 | g.155294631C>A | CA421245681 | PKLR | c.816G>T (p.Leu272=) c.723G>T (p.Leu241=) c.975G>T (p.Leu325=) c.624G>T (p.Leu208=) | |
| 1 | g.155294631C>G | CA421245679 | PKLR | c.816G>C (p.Leu272=) c.723G>C (p.Leu241=) c.975G>C (p.Leu325=) c.624G>C (p.Leu208=) | |
| 1 | g.155294631C>T | CA421245680 | PKLR | c.816G>A (p.Leu272=) c.723G>A (p.Leu241=) c.975G>A (p.Leu325=) c.624G>A (p.Leu208=) | |
| 1 | g.155294632A= | CA1200112235 | PKLR | c.815T= (p.Leu272=) c.722T= (p.Leu241=) c.974T= (p.Leu325=) c.623T= (p.Leu208=) | |
| 1 | g.155294632A>C | CA342754301 | PKLR | c.815T>G (p.Leu272Arg) c.722T>G (p.Leu241Arg) c.974T>G (p.Leu325Arg) c.623T>G (p.Leu208Arg) | |
| 1 | g.155294632A>G | CA342754303 | PKLR | c.815T>C (p.Leu272Pro) c.722T>C (p.Leu241Pro) c.974T>C (p.Leu325Pro) c.623T>C (p.Leu208Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155294632A>T | CA342754305 | PKLR | c.815T>A (p.Leu272Gln) c.722T>A (p.Leu241Gln) c.974T>A (p.Leu325Gln) c.623T>A (p.Leu208Gln) | |
| 1 | g.155294633G>A | CA421245682 | PKLR | c.814C>T (p.Leu272=) c.721C>T (p.Leu241=) c.973C>T (p.Leu325=) c.622C>T (p.Leu208=) | |
| 1 | g.155294633G>C | CA1144204 | PKLR | c.814C>G (p.Leu272Val) c.721C>G (p.Leu241Val) c.973C>G (p.Leu325Val) c.622C>G (p.Leu208Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294633G= | CA1142192953 | PKLR | c.814C= (p.Leu272=) c.721C= (p.Leu241=) c.973C= (p.Leu325=) c.622C= (p.Leu208=) | |
| 1 | g.155294633G>T | CA342754308 | PKLR | c.814C>A (p.Leu272Met) c.721C>A (p.Leu241Met) c.973C>A (p.Leu325Met) c.622C>A (p.Leu208Met) | |
| 1 | g.155294634G>A | CA421245685 | PKLR | c.813C>T (p.Asp271=) c.720C>T (p.Asp240=) c.972C>T (p.Asp324=) c.621C>T (p.Asp207=) | |
| 1 | g.155294634G>C | CA342754312 | PKLR | c.813C>G (p.Asp271Glu) c.720C>G (p.Asp240Glu) c.972C>G (p.Asp324Glu) c.621C>G (p.Asp207Glu) | |
| 1 | g.155294634G>T | CA342754311 | PKLR | c.813C>A (p.Asp271Glu) c.720C>A (p.Asp240Glu) c.972C>A (p.Asp324Glu) c.621C>A (p.Asp207Glu) | gnomAD v4 |
| 1 | g.155294635T>A | CA342754316 | PKLR | c.812A>T (p.Asp271Val) c.719A>T (p.Asp240Val) c.971A>T (p.Asp324Val) c.620A>T (p.Asp207Val) | |
| 1 | g.155294635T>C | CA342754317 | PKLR | c.812A>G (p.Asp271Gly) c.719A>G (p.Asp240Gly) c.971A>G (p.Asp324Gly) c.620A>G (p.Asp207Gly) | |
| 1 | g.155294635T>G | CA342754319 | PKLR | c.812A>C (p.Asp271Ala) c.719A>C (p.Asp240Ala) c.971A>C (p.Asp324Ala) c.620A>C (p.Asp207Ala) | |
| 1 | g.155294636C>A | CA342754321 | PKLR | c.811G>T (p.Asp271Tyr) c.718G>T (p.Asp240Tyr) c.970G>T (p.Asp324Tyr) c.619G>T (p.Asp207Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155294636C= | CA1200112236 | PKLR | c.811G= (p.Asp271=) c.718G= (p.Asp240=) c.970G= (p.Asp324=) c.619G= (p.Asp207=) | |
| 1 | g.155294636C>G | CA342754323 | PKLR | c.811G>C (p.Asp271His) c.718G>C (p.Asp240His) c.970G>C (p.Asp324His) c.619G>C (p.Asp207His) | |
| 1 | g.155294636C>T | CA342754325 | PKLR | c.811G>A (p.Asp271Asn) c.718G>A (p.Asp240Asn) c.970G>A (p.Asp324Asn) c.619G>A (p.Asp207Asn) | |
| 1 | g.155294637T>A | CA421245695 | PKLR | c.810A>T (p.Arg270=) c.717A>T (p.Arg239=) c.969A>T (p.Arg323=) c.618A>T (p.Arg206=) | |
| 1 | g.155294637T>C | CA421245690 | PKLR | c.810A>G (p.Arg270=) c.717A>G (p.Arg239=) c.969A>G (p.Arg323=) c.618A>G (p.Arg206=) | |
| 1 | g.155294637T>G | CA421245692 | PKLR | c.810A>C (p.Arg270=) c.717A>C (p.Arg239=) c.969A>C (p.Arg323=) c.618A>C (p.Arg206=) | gnomAD v4 |
| 1 | g.155294638C>A | CA342754332 | PKLR | c.809G>T (p.Arg270Leu) c.716G>T (p.Arg239Leu) c.968G>T (p.Arg323Leu) c.617G>T (p.Arg206Leu) | dbSNP gnomAD v4 |
| 1 | g.155294638C= | CA1200112237 | PKLR | c.809G= (p.Arg270=) c.716G= (p.Arg239=) c.968G= (p.Arg323=) c.617G= (p.Arg206=) | |
| 1 | g.155294638C>G | CA342754330 | PKLR | c.809G>C (p.Arg270Pro) c.716G>C (p.Arg239Pro) c.968G>C (p.Arg323Pro) c.617G>C (p.Arg206Pro) | gnomAD v4 |
| 1 | g.155294638C>T | CA342754327 | PKLR | c.809G>A (p.Arg270Gln) c.716G>A (p.Arg239Gln) c.968G>A (p.Arg323Gln) c.617G>A (p.Arg206Gln) | gnomAD v4 |
| 1 | g.155294639G>A | CA342754334 | PKLR | c.808C>T (p.Arg270Ter) c.715C>T (p.Arg239Ter) c.967C>T (p.Arg323Ter) c.616C>T (p.Arg206Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155294639G>C | CA1144206 | PKLR | c.808C>G (p.Arg270Gly) c.715C>G (p.Arg239Gly) c.967C>G (p.Arg323Gly) c.616C>G (p.Arg206Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294639G= | CA1200112238 | PKLR | c.808C= (p.Arg270=) c.715C= (p.Arg239=) c.967C= (p.Arg323=) c.616C= (p.Arg206=) | |
| 1 | g.155294639G>T | CA1144205 | PKLR | c.808C>A (p.Arg270=) c.715C>A (p.Arg239=) c.967C>A (p.Arg323=) c.616C>A (p.Arg206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294640G>A | CA421245696 | PKLR | c.807C>T (p.Val269=) c.714C>T (p.Val238=) c.966C>T (p.Val322=) c.615C>T (p.Val205=) |