Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294613_155294624del | CA2746213714 | PKLR | c.831_842del (p.Glu277_Val280del) c.738_749del (p.Glu246_Val249del) c.990_1001del (p.Glu330_Val333del) c.639_650del (p.Glu213_Val216del) | |
1 | g.155294620A= | CA1200112232 | PKLR | c.827T= (p.Val276=) c.734T= (p.Val245=) c.986T= (p.Val329=) c.635T= (p.Val212=) | |
1 | g.155294620A>C | CA342754270 | PKLR | c.827T>G (p.Val276Gly) c.734T>G (p.Val245Gly) c.986T>G (p.Val329Gly) c.635T>G (p.Val212Gly) | |
1 | g.155294620A>G | CA342754271 | PKLR | c.827T>C (p.Val276Ala) c.734T>C (p.Val245Ala) c.986T>C (p.Val329Ala) c.635T>C (p.Val212Ala) | gnomAD v4 |
1 | g.155294620A>T | CA342754272 | PKLR | c.827T>A (p.Val276Glu) c.734T>A (p.Val245Glu) c.986T>A (p.Val329Glu) c.635T>A (p.Val212Glu) | dbSNP |
1 | g.155294620_155294621delinsAC | CA1200112231 | PKLR | c.826_827delinsGT (p.Val276=) c.733_734delinsGT (p.Val245=) c.985_986delinsGT (p.Val329=) c.634_635delinsGT (p.Val212=) | |
1 | g.155294621C>A | CA342754273 | PKLR | c.826G>T (p.Val276Leu) c.733G>T (p.Val245Leu) c.985G>T (p.Val329Leu) c.634G>T (p.Val212Leu) | |
1 | g.155294621C= | CA1200112233 | PKLR | c.826G= (p.Val276=) c.733G= (p.Val245=) c.985G= (p.Val329=) c.634G= (p.Val212=) | |
1 | g.155294621C>G | CA342754274 | PKLR | c.826G>C (p.Val276Leu) c.733G>C (p.Val245Leu) c.985G>C (p.Val329Leu) c.634G>C (p.Val212Leu) | |
1 | g.155294621C>T | CA1144199 | PKLR | c.826G>A (p.Val276Met) c.733G>A (p.Val245Met) c.985G>A (p.Val329Met) c.634G>A (p.Val212Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294624_155294625insATGCTCCTCCCC | CA2586967537 | PKLR | c.826_827insAGGAGCATGGGG (p.Gly275_Val276insGluGluHisGly) c.733_734insAGGAGCATGGGG (p.Gly244_Val245insGluGluHisGly) c.985_986insAGGAGCATGGGG (p.Gly328_Val329insGluGluHisGly) c.634_635insAGGAGCATGGGG (p.Gly211_Val212insGluGluHisGly) | gnomAD v4 |
1 | g.155294624del | CA1144198 | PKLR | c.826del (p.Val276TrpfsTer?) c.733del (p.Val245TrpfsTer?) c.985del (p.Val329TrpfsTer?) c.634del (p.Val212TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294622C>A | CA421245667 | PKLR | c.825G>T (p.Gly275=) c.732G>T (p.Gly244=) c.984G>T (p.Gly328=) c.633G>T (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>G | CA421245664 | PKLR | c.825G>C (p.Gly275=) c.732G>C (p.Gly244=) c.984G>C (p.Gly328=) c.633G>C (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>T | CA421245666 | PKLR | c.825G>A (p.Gly275=) c.732G>A (p.Gly244=) c.984G>A (p.Gly328=) c.633G>A (p.Gly211=) | |
1 | g.155294623C>A | CA342754275 | PKLR | c.824G>T (p.Gly275Val) c.731G>T (p.Gly244Val) c.983G>T (p.Gly328Val) c.632G>T (p.Gly211Val) | |
1 | g.155294623C>G | CA342754276 | PKLR | c.824G>C (p.Gly275Ala) c.731G>C (p.Gly244Ala) c.983G>C (p.Gly328Ala) c.632G>C (p.Gly211Ala) | COSMIC |
1 | g.155294623C>T | CA342754277 | PKLR | c.824G>A (p.Gly275Glu) c.731G>A (p.Gly244Glu) c.983G>A (p.Gly328Glu) c.632G>A (p.Gly211Glu) | |
1 | g.155294624C>A | CA342754278 | PKLR | c.823G>T (p.Gly275Trp) c.730G>T (p.Gly244Trp) c.982G>T (p.Gly328Trp) c.631G>T (p.Gly211Trp) | |
1 | g.155294624C= | CA1148471349 | PKLR | c.823G= (p.Gly275=) c.730G= (p.Gly244=) c.982G= (p.Gly328=) c.631G= (p.Gly211=) | |
1 | g.155294624C>G | CA1144200 | PKLR | c.823G>C (p.Gly275Arg) c.730G>C (p.Gly244Arg) c.982G>C (p.Gly328Arg) c.631G>C (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294624C>T | CA1144201 | PKLR | c.823G>A (p.Gly275Arg) c.730G>A (p.Gly244Arg) c.982G>A (p.Gly328Arg) c.631G>A (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294625G>A | CA421245670 | PKLR | c.822C>T (p.Phe274=) c.729C>T (p.Phe243=) c.981C>T (p.Phe327=) c.630C>T (p.Phe210=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294625G>C | CA342754279 | PKLR | c.822C>G (p.Phe274Leu) c.729C>G (p.Phe243Leu) c.981C>G (p.Phe327Leu) c.630C>G (p.Phe210Leu) | |
1 | g.155294625G= | CA1200112234 | PKLR | c.822C= (p.Phe274=) c.729C= (p.Phe243=) c.981C= (p.Phe327=) c.630C= (p.Phe210=) | |
1 | g.155294625G>T | CA342754280 | PKLR | c.822C>A (p.Phe274Leu) c.729C>A (p.Phe243Leu) c.981C>A (p.Phe327Leu) c.630C>A (p.Phe210Leu) | |
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=) | |
1 | g.155294640G>C | CA421245697 | PKLR | c.807C>G (p.Val269=) c.714C>G (p.Val238=) c.966C>G (p.Val322=) c.615C>G (p.Val205=) | |
1 | g.155294640G>T | CA421245698 | PKLR | c.807C>A (p.Val269=) c.714C>A (p.Val238=) c.966C>A (p.Val322=) c.615C>A (p.Val205=) | |
1 | g.155294641A= | CA1200112239 | PKLR | c.806T= (p.Val269=) c.713T= (p.Val238=) c.965T= (p.Val322=) c.614T= (p.Val205=) | |
1 | g.155294641A>C | CA342754339 | PKLR | c.806T>G (p.Val269Gly) c.713T>G (p.Val238Gly) c.965T>G (p.Val322Gly) c.614T>G (p.Val205Gly) | |
1 | g.155294641A>G | CA1144207 | PKLR | c.806T>C (p.Val269Ala) c.713T>C (p.Val238Ala) c.965T>C (p.Val322Ala) c.614T>C (p.Val205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294641A>T | CA342754342 | PKLR | c.806T>A (p.Val269Asp) c.713T>A (p.Val238Asp) c.965T>A (p.Val322Asp) c.614T>A (p.Val205Asp) | dbSNP gnomAD v4 |
1 | g.155294641_155294650delinsACGTCCTGCT | CA1200112240 | PKLR | c.797_806delinsAGCAGGACGT (p.Glu266=) c.704_713delinsAGCAGGACGT (p.Glu235=) c.956_965delinsAGCAGGACGT (p.Glu319=) c.605_614delinsAGCAGGACGT (p.Glu202=) | |
1 | g.155294642C>A | CA1144208 | PKLR | c.805G>T (p.Val269Phe) c.712G>T (p.Val238Phe) c.964G>T (p.Val322Phe) c.613G>T (p.Val205Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294642C= | CA1143434322 | PKLR | c.805G= (p.Val269=) c.712G= (p.Val238=) c.964G= (p.Val322=) c.613G= (p.Val205=) | |
1 | g.155294642C>G | CA342754345 | PKLR | c.805G>C (p.Val269Leu) c.712G>C (p.Val238Leu) c.964G>C (p.Val322Leu) c.613G>C (p.Val205Leu) | |
1 | g.155294642C>T | CA342754346 | PKLR | c.805G>A (p.Val269Ile) c.712G>A (p.Val238Ile) c.964G>A (p.Val322Ile) c.613G>A (p.Val205Ile) | gnomAD v4 COSMIC |
1 | g.155294644_155294652del | CA1007987022 | PKLR | c.797_805del (p.Glu266_Asp268del) c.704_712del (p.Glu235_Asp237del) c.956_964del (p.Glu319_Asp321del) c.605_613del (p.Glu202_Asp204del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294643G>A | CA1144209 | PKLR | c.804C>T (p.Asp268=) c.711C>T (p.Asp237=) c.963C>T (p.Asp321=) c.612C>T (p.Asp204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294643G>C | CA342754350 | PKLR | c.804C>G (p.Asp268Glu) c.711C>G (p.Asp237Glu) c.963C>G (p.Asp321Glu) c.612C>G (p.Asp204Glu) | |
1 | g.155294643G= | CA1148006379 | PKLR | c.804C= (p.Asp268=) c.711C= (p.Asp237=) c.963C= (p.Asp321=) c.612C= (p.Asp204=) | |
1 | g.155294643G>T | CA342754352 | PKLR | c.804C>A (p.Asp268Glu) c.711C>A (p.Asp237Glu) c.963C>A (p.Asp321Glu) c.612C>A (p.Asp204Glu) | dbSNP gnomAD v4 |
1 | g.155294644T>A | CA342754353 | PKLR | c.803A>T (p.Asp268Val) c.710A>T (p.Asp237Val) c.962A>T (p.Asp321Val) c.611A>T (p.Asp204Val) | |
1 | g.155294644T>C | CA342754355 | PKLR | c.803A>G (p.Asp268Gly) c.710A>G (p.Asp237Gly) c.962A>G (p.Asp321Gly) c.611A>G (p.Asp204Gly) | |
1 | g.155294644T>G | CA342754357 | PKLR | c.803A>C (p.Asp268Ala) c.710A>C (p.Asp237Ala) c.962A>C (p.Asp321Ala) c.611A>C (p.Asp204Ala) | |
1 | g.155294645C>A | CA342754363 | PKLR | c.802G>T (p.Asp268Tyr) c.709G>T (p.Asp237Tyr) c.961G>T (p.Asp321Tyr) c.610G>T (p.Asp204Tyr) | |
1 | g.155294645C>G | CA342754360 | PKLR | c.802G>C (p.Asp268His) c.709G>C (p.Asp237His) c.961G>C (p.Asp321His) c.610G>C (p.Asp204His) | |
1 | g.155294645C>T | CA342754362 | PKLR | c.802G>A (p.Asp268Asn) c.709G>A (p.Asp237Asn) c.961G>A (p.Asp321Asn) c.610G>A (p.Asp204Asn) | |
1 | g.155294645_155294646insT | CA2586967538 | PKLR | c.801_802insA (p.Asp268ArgfsTer?) c.708_709insA (p.Asp237ArgfsTer?) c.960_961insA (p.Asp321ArgfsTer?) c.609_610insA (p.Asp204ArgfsTer?) | |
1 | g.155294646C>A | CA342754366 | PKLR | c.801G>T (p.Gln267His) c.708G>T (p.Gln236His) c.960G>T (p.Gln320His) c.609G>T (p.Gln203His) | |
1 | g.155294646C>G | CA342754368 | PKLR | c.801G>C (p.Gln267His) c.708G>C (p.Gln236His) c.960G>C (p.Gln320His) c.609G>C (p.Gln203His) | |
1 | g.155294646C>T | CA421245702 | PKLR | c.801G>A (p.Gln267=) c.708G>A (p.Gln236=) c.960G>A (p.Gln320=) c.609G>A (p.Gln203=) | |
1 | g.155294647T>A | CA342754370 | PKLR | c.800A>T (p.Gln267Leu) c.707A>T (p.Gln236Leu) c.959A>T (p.Gln320Leu) c.608A>T (p.Gln203Leu) | |
1 | g.155294647T>C | CA342754372 | PKLR | c.800A>G (p.Gln267Arg) c.707A>G (p.Gln236Arg) c.959A>G (p.Gln320Arg) c.608A>G (p.Gln203Arg) | |
1 | g.155294647T>G | CA342754374 | PKLR | c.800A>C (p.Gln267Pro) c.707A>C (p.Gln236Pro) c.959A>C (p.Gln320Pro) c.608A>C (p.Gln203Pro) | |
1 | g.155294648G>A | CA342754375 | PKLR | c.799C>T (p.Gln267Ter) c.706C>T (p.Gln236Ter) c.958C>T (p.Gln320Ter) c.607C>T (p.Gln203Ter) | ClinVar dbSNP |
1 | g.155294648G>C | CA342754377 | PKLR | c.799C>G (p.Gln267Glu) c.706C>G (p.Gln236Glu) c.958C>G (p.Gln320Glu) c.607C>G (p.Gln203Glu) | |
1 | g.155294648G= | CA1200112241 | PKLR | c.799C= (p.Gln267=) c.706C= (p.Gln236=) c.958C= (p.Gln320=) c.607C= (p.Gln203=) | |
1 | g.155294648G>T | CA1144210 | PKLR | c.799C>A (p.Gln267Lys) c.706C>A (p.Gln236Lys) c.958C>A (p.Gln320Lys) c.607C>A (p.Gln203Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294649_155294661dup | CA2648269429 | PKLR | c.787_799dup (p.Gln267ArgfsTer?) c.694_706dup (p.Gln236ArgfsTer?) c.946_958dup (p.Gln320ArgfsTer?) c.595_607dup (p.Gln203ArgfsTer?) | gnomAD v4 |
1 | g.155294649C>A | CA342754380 | PKLR | c.798G>T (p.Glu266Asp) c.705G>T (p.Glu235Asp) c.957G>T (p.Glu319Asp) c.606G>T (p.Glu202Asp) | |
1 | g.155294649C>G | CA342754382 | PKLR | c.798G>C (p.Glu266Asp) c.705G>C (p.Glu235Asp) c.957G>C (p.Glu319Asp) c.606G>C (p.Glu202Asp) | |
1 | g.155294649C>T | CA421245706 | PKLR | c.798G>A (p.Glu266=) c.705G>A (p.Glu235=) c.957G>A (p.Glu319=) c.606G>A (p.Glu202=) | gnomAD v4 |
1 | g.155294650T>A | CA342754386 | PKLR | c.797A>T (p.Glu266Val) c.704A>T (p.Glu235Val) c.956A>T (p.Glu319Val) c.605A>T (p.Glu202Val) | gnomAD v4 |
1 | g.155294650T>C | CA342754385 | PKLR | c.797A>G (p.Glu266Gly) c.704A>G (p.Glu235Gly) c.956A>G (p.Glu319Gly) c.605A>G (p.Glu202Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294650T>G | CA342754384 | PKLR | c.797A>C (p.Glu266Ala) c.704A>C (p.Glu235Ala) c.956A>C (p.Glu319Ala) c.605A>C (p.Glu202Ala) | |
1 | g.155294650T= | CA1200112242 | PKLR | c.797A= (p.Glu266=) c.704A= (p.Glu235=) c.956A= (p.Glu319=) c.605A= (p.Glu202=) | |
1 | g.155294651C>A | CA342754387 | PKLR | c.796G>T (p.Glu266Ter) c.703G>T (p.Glu235Ter) c.955G>T (p.Glu319Ter) c.604G>T (p.Glu202Ter) | |
1 | g.155294651C= | CA1200112243 | PKLR | c.796G= (p.Glu266=) c.703G= (p.Glu235=) c.955G= (p.Glu319=) c.604G= (p.Glu202=) | |
1 | g.155294651C>G | CA342754388 | PKLR | c.796G>C (p.Glu266Gln) c.703G>C (p.Glu235Gln) c.955G>C (p.Glu319Gln) c.604G>C (p.Glu202Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294651C>T | CA342754390 | PKLR | c.796G>A (p.Glu266Lys) c.703G>A (p.Glu235Lys) c.955G>A (p.Glu319Lys) c.604G>A (p.Glu202Lys) | gnomAD v4 |
1 | g.155294652G>A | CA421245709 | PKLR | c.795C>T (p.Ser265=) c.702C>T (p.Ser234=) c.954C>T (p.Ser318=) c.603C>T (p.Ser201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294652G>C | CA421245710 | PKLR | c.795C>G (p.Ser265=) c.702C>G (p.Ser234=) c.954C>G (p.Ser318=) c.603C>G (p.Ser201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294652G= | CA1200112244 | PKLR | c.795C= (p.Ser265=) c.702C= (p.Ser234=) c.954C= (p.Ser318=) c.603C= (p.Ser201=) | |
1 | g.155294652G>T | CA421245711 | PKLR | c.795C>A (p.Ser265=) c.702C>A (p.Ser234=) c.954C>A (p.Ser318=) c.603C>A (p.Ser201=) | gnomAD v4 |
1 | g.155294653G>A | CA342754393 | PKLR | c.794C>T (p.Ser265Phe) c.701C>T (p.Ser234Phe) c.953C>T (p.Ser318Phe) c.602C>T (p.Ser201Phe) | |
1 | g.155294653G>C | CA30903364 | PKLR | c.794C>G (p.Ser265Cys) c.701C>G (p.Ser234Cys) c.953C>G (p.Ser318Cys) c.602C>G (p.Ser201Cys) | dbSNP |
1 | g.155294653G= | CA1200112245 | PKLR | c.794C= (p.Ser265=) c.701C= (p.Ser234=) c.953C= (p.Ser318=) c.602C= (p.Ser201=) | |
1 | g.155294653G>T | CA342754395 | PKLR | c.794C>A (p.Ser265Tyr) c.701C>A (p.Ser234Tyr) c.953C>A (p.Ser318Tyr) c.602C>A (p.Ser201Tyr) | |
1 | g.155294654A>C | CA342754397 | PKLR | c.793T>G (p.Ser265Ala) c.700T>G (p.Ser234Ala) c.952T>G (p.Ser318Ala) c.601T>G (p.Ser201Ala) | |
1 | g.155294654A>G | CA342754398 | PKLR | c.793T>C (p.Ser265Pro) c.700T>C (p.Ser234Pro) c.952T>C (p.Ser318Pro) c.601T>C (p.Ser201Pro) | |
1 | g.155294654A>T | CA342754401 | PKLR | c.793T>A (p.Ser265Thr) c.700T>A (p.Ser234Thr) c.952T>A (p.Ser318Thr) c.601T>A (p.Ser201Thr) | |
1 | g.155294655C>A | CA421245712 | PKLR | c.792G>T (p.Leu264=) c.699G>T (p.Leu233=) c.951G>T (p.Leu317=) c.600G>T (p.Leu200=) | |
1 | g.155294655C= | CA1200112246 | PKLR | c.792G= (p.Leu264=) c.699G= (p.Leu233=) c.951G= (p.Leu317=) c.600G= (p.Leu200=) | |
1 | g.155294655C>G | CA421245713 | PKLR | c.792G>C (p.Leu264=) c.699G>C (p.Leu233=) c.951G>C (p.Leu317=) c.600G>C (p.Leu200=) | dbSNP gnomAD v4 |
1 | g.155294655C>T | CA421245714 | PKLR | c.792G>A (p.Leu264=) c.699G>A (p.Leu233=) c.951G>A (p.Leu317=) c.600G>A (p.Leu200=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294656_155294660del | CA2586967539 | PKLR | c.788_792del (p.Gly263ValfsTer?) c.695_699del (p.Gly232ValfsTer?) c.947_951del (p.Gly316ValfsTer?) c.596_600del (p.Gly199ValfsTer?) | |
1 | g.155294656A>C | CA342754403 | PKLR | c.791T>G (p.Leu264Arg) c.698T>G (p.Leu233Arg) c.950T>G (p.Leu317Arg) c.599T>G (p.Leu200Arg) | |
1 | g.155294656A>G | CA342754405 | PKLR | c.791T>C (p.Leu264Pro) c.698T>C (p.Leu233Pro) c.950T>C (p.Leu317Pro) c.599T>C (p.Leu200Pro) | gnomAD v4 |
1 | g.155294656A>T | CA342754412 | PKLR | c.791T>A (p.Leu264Gln) c.698T>A (p.Leu233Gln) c.950T>A (p.Leu317Gln) c.599T>A (p.Leu200Gln) | |
1 | g.155294657G>A | CA1144211 | PKLR | c.790C>T (p.Leu264=) c.697C>T (p.Leu233=) c.949C>T (p.Leu317=) c.598C>T (p.Leu200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294657G>C | CA342754418 | PKLR | c.790C>G (p.Leu264Val) c.697C>G (p.Leu233Val) c.949C>G (p.Leu317Val) c.598C>G (p.Leu200Val) | |
1 | g.155294657G= | CA1143386169 | PKLR | c.790C= (p.Leu264=) c.697C= (p.Leu233=) c.949C= (p.Leu317=) c.598C= (p.Leu200=) | |
1 | g.155294657G>T | CA342754415 | PKLR | c.790C>A (p.Leu264Met) c.697C>A (p.Leu233Met) c.949C>A (p.Leu317Met) c.598C>A (p.Leu200Met) | |
1 | g.155294658C>A | CA421245716 | PKLR | c.789G>T (p.Gly263=) c.696G>T (p.Gly232=) c.948G>T (p.Gly316=) c.597G>T (p.Gly199=) | dbSNP gnomAD v4 |
1 | g.155294658C= | CA1200112247 | PKLR | c.789G= (p.Gly263=) c.696G= (p.Gly232=) c.948G= (p.Gly316=) c.597G= (p.Gly199=) | |
1 | g.155294658C>G | CA421245715 | PKLR | c.789G>C (p.Gly263=) c.696G>C (p.Gly232=) c.948G>C (p.Gly316=) c.597G>C (p.Gly199=) | |
1 | g.155294658C>T | CA421245717 | PKLR | c.789G>A (p.Gly263=) c.696G>A (p.Gly232=) c.948G>A (p.Gly316=) c.597G>A (p.Gly199=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294659C>A | CA342754422 | PKLR | c.788G>T (p.Gly263Val) c.695G>T (p.Gly232Val) c.947G>T (p.Gly316Val) c.596G>T (p.Gly199Val) | |
1 | g.155294659C= | CA1200112248 | PKLR | c.788G= (p.Gly263=) c.695G= (p.Gly232=) c.947G= (p.Gly316=) c.596G= (p.Gly199=) | |
1 | g.155294659C>G | CA342754425 | PKLR | c.788G>C (p.Gly263Ala) c.695G>C (p.Gly232Ala) c.947G>C (p.Gly316Ala) c.596G>C (p.Gly199Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294659C>T | CA30903386 | PKLR | c.788G>A (p.Gly263Glu) c.695G>A (p.Gly232Glu) c.947G>A (p.Gly316Glu) c.596G>A (p.Gly199Glu) | dbSNP COSMIC |
1 | g.155294660C>A | CA342754428 | PKLR | c.787G>T (p.Gly263Trp) c.694G>T (p.Gly232Trp) c.946G>T (p.Gly316Trp) c.595G>T (p.Gly199Trp) | |
1 | g.155294660C= | CA1200112249 | PKLR | c.787G= (p.Gly263=) c.694G= (p.Gly232=) c.946G= (p.Gly316=) c.595G= (p.Gly199=) | |
1 | g.155294660C>G | CA342754430 | PKLR | c.787G>C (p.Gly263Arg) c.694G>C (p.Gly232Arg) c.946G>C (p.Gly316Arg) c.595G>C (p.Gly199Arg) | gnomAD v4 |
1 | g.155294660C>T | CA342754432 | PKLR | c.787G>A (p.Gly263Arg) c.694G>A (p.Gly232Arg) c.946G>A (p.Gly316Arg) c.595G>A (p.Gly199Arg) | dbSNP gnomAD v4 COSMIC |
1 | g.155294661G>A | CA30903392 | PKLR | c.786C>T (p.Pro262=) c.693C>T (p.Pro231=) c.945C>T (p.Pro315=) c.594C>T (p.Pro198=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294661G>C | CA421245718 | PKLR | c.786C>G (p.Pro262=) c.693C>G (p.Pro231=) c.945C>G (p.Pro315=) c.594C>G (p.Pro198=) | COSMIC |
1 | g.155294661G= | CA1142233589 | PKLR | c.786C= (p.Pro262=) c.693C= (p.Pro231=) c.945C= (p.Pro315=) c.594C= (p.Pro198=) | |
1 | g.155294661G>T | CA421245719 | PKLR | c.786C>A (p.Pro262=) c.693C>A (p.Pro231=) c.945C>A (p.Pro315=) c.594C>A (p.Pro198=) | |
1 | g.155294662G>A | CA342754436 | PKLR | c.785C>T (p.Pro262Leu) c.692C>T (p.Pro231Leu) c.944C>T (p.Pro315Leu) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294662G>C | CA342754438 | PKLR | c.785C>G (p.Pro262Arg) c.692C>G (p.Pro231Arg) c.944C>G (p.Pro315Arg) c.593C>G (p.Pro198Arg) | |
1 | g.155294662G= | CA1200112250 | PKLR | c.785C= (p.Pro262=) c.692C= (p.Pro231=) c.944C= (p.Pro315=) c.593C= (p.Pro198=) | |
1 | g.155294662G>T | CA342754439 | PKLR | c.785C>A (p.Pro262His) c.692C>A (p.Pro231His) c.944C>A (p.Pro315His) c.593C>A (p.Pro198His) | |
1 | g.155294663G>A | CA342754442 | PKLR | c.784C>T (p.Pro262Ser) c.691C>T (p.Pro231Ser) c.943C>T (p.Pro315Ser) c.592C>T (p.Pro198Ser) | |
1 | g.155294663G>C | CA342754443 | PKLR | c.784C>G (p.Pro262Ala) c.691C>G (p.Pro231Ala) c.943C>G (p.Pro315Ala) c.592C>G (p.Pro198Ala) | |
1 | g.155294663G>T | CA342754445 | PKLR | c.784C>A (p.Pro262Thr) c.691C>A (p.Pro231Thr) c.943C>A (p.Pro315Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
1 | g.155294664C>A | CA1144212 | PKLR | c.783G>T (p.Leu261Phe) c.690G>T (p.Leu230Phe) c.942G>T (p.Leu314Phe) c.591G>T (p.Leu197Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294664C= | CA1200112251 | PKLR | c.783G= (p.Leu261=) c.690G= (p.Leu230=) c.942G= (p.Leu314=) c.591G= (p.Leu197=) | |
1 | g.155294664C>G | CA342754448 | PKLR | c.783G>C (p.Leu261Phe) c.690G>C (p.Leu230Phe) c.942G>C (p.Leu314Phe) c.591G>C (p.Leu197Phe) | gnomAD v4 |
1 | g.155294664C>T | CA421245720 | PKLR | c.783G>A (p.Leu261=) c.690G>A (p.Leu230=) c.942G>A (p.Leu314=) c.591G>A (p.Leu197=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294665A= | CA1200112252 | PKLR | c.782T= (p.Leu261=) c.689T= (p.Leu230=) c.941T= (p.Leu314=) c.590T= (p.Leu197=) | |
1 | g.155294665A>C | CA342754452 | PKLR | c.782T>G (p.Leu261Trp) c.689T>G (p.Leu230Trp) c.941T>G (p.Leu314Trp) c.590T>G (p.Leu197Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294665A>G | CA342754456 | PKLR | c.782T>C (p.Leu261Ser) c.689T>C (p.Leu230Ser) c.941T>C (p.Leu314Ser) c.590T>C (p.Leu197Ser) | |
1 | g.155294665A>T | CA342754454 | PKLR | c.782T>A (p.Leu261Ter) c.689T>A (p.Leu230Ter) c.941T>A (p.Leu314Ter) c.590T>A (p.Leu197Ter) | |
1 | g.155294666A>C | CA342754458 | PKLR | c.781T>G (p.Leu261Val) c.688T>G (p.Leu230Val) c.940T>G (p.Leu314Val) c.589T>G (p.Leu197Val) | |
1 | g.155294666A>G | CA421245722 | PKLR | c.781T>C (p.Leu261=) c.688T>C (p.Leu230=) c.940T>C (p.Leu314=) c.589T>C (p.Leu197=) | |
1 | g.155294666A>T | CA342754463 | PKLR | c.781T>A (p.Leu261Met) c.688T>A (p.Leu230Met) c.940T>A (p.Leu314Met) c.589T>A (p.Leu197Met) | |
1 | g.155294667G>A | CA421245723 | PKLR | c.780C>T (p.Asp260=) c.687C>T (p.Asp229=) c.939C>T (p.Asp313=) c.588C>T (p.Asp196=) | gnomAD v4 |
1 | g.155294667G>C | CA342754465 | PKLR | c.780C>G (p.Asp260Glu) c.687C>G (p.Asp229Glu) c.939C>G (p.Asp313Glu) c.588C>G (p.Asp196Glu) | |
1 | g.155294667G= | CA1200112253 | PKLR | c.780C= (p.Asp260=) c.687C= (p.Asp229=) c.939C= (p.Asp313=) c.588C= (p.Asp196=) | |
1 | g.155294667G>T | CA1144213 | PKLR | c.780C>A (p.Asp260Glu) c.687C>A (p.Asp229Glu) c.939C>A (p.Asp313Glu) c.588C>A (p.Asp196Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294668T>A | CA342754469 | PKLR | c.779A>T (p.Asp260Val) c.686A>T (p.Asp229Val) c.938A>T (p.Asp313Val) c.587A>T (p.Asp196Val) | |
1 | g.155294668T>C | CA342754470 | PKLR | c.779A>G (p.Asp260Gly) c.686A>G (p.Asp229Gly) c.938A>G (p.Asp313Gly) c.587A>G (p.Asp196Gly) | |
1 | g.155294668T>G | CA342754472 | PKLR | c.779A>C (p.Asp260Ala) c.686A>C (p.Asp229Ala) c.938A>C (p.Asp313Ala) c.587A>C (p.Asp196Ala) | |
1 | g.155294669C>A | CA342754475 | PKLR | c.778G>T (p.Asp260Tyr) c.685G>T (p.Asp229Tyr) c.937G>T (p.Asp313Tyr) c.586G>T (p.Asp196Tyr) | |
1 | g.155294669C= | CA1141751819 | PKLR | c.778G= (p.Asp260=) c.685G= (p.Asp229=) c.937G= (p.Asp313=) c.586G= (p.Asp196=) | |
1 | g.155294669C>G | CA1144214 | PKLR | c.778G>C (p.Asp260His) c.685G>C (p.Asp229His) c.937G>C (p.Asp313His) c.586G>C (p.Asp196His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294669C>T | CA1144215 | PKLR | c.778G>A (p.Asp260Asn) c.685G>A (p.Asp229Asn) c.937G>A (p.Asp313Asn) c.586G>A (p.Asp196Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294670C>A | CA421245727 | PKLR | c.777G>T (p.Val259=) c.684G>T (p.Val228=) c.936G>T (p.Val312=) c.585G>T (p.Val195=) | |
1 | g.155294670C>G | CA421245728 | PKLR | c.777G>C (p.Val259=) c.684G>C (p.Val228=) c.936G>C (p.Val312=) c.585G>C (p.Val195=) | |
1 | g.155294670C>T | CA421245729 | PKLR | c.777G>A (p.Val259=) c.684G>A (p.Val228=) c.936G>A (p.Val312=) c.585G>A (p.Val195=) | |
1 | g.155294671A>C | CA342754479 | PKLR | c.776T>G (p.Val259Gly) c.683T>G (p.Val228Gly) c.935T>G (p.Val312Gly) c.584T>G (p.Val195Gly) | |
1 | g.155294671A>G | CA342754481 | PKLR | c.776T>C (p.Val259Ala) c.683T>C (p.Val228Ala) c.935T>C (p.Val312Ala) c.584T>C (p.Val195Ala) | |
1 | g.155294671A>T | CA342754482 | PKLR | c.776T>A (p.Val259Glu) c.683T>A (p.Val228Glu) c.935T>A (p.Val312Glu) c.584T>A (p.Val195Glu) | |
1 | g.155294672C>A | CA342754484 | PKLR | c.775G>T (p.Val259Leu) c.682G>T (p.Val228Leu) c.934G>T (p.Val312Leu) c.583G>T (p.Val195Leu) | dbSNP gnomAD v2 |
1 | g.155294672C= | CA1200112254 | PKLR | c.775G= (p.Val259=) c.682G= (p.Val228=) c.934G= (p.Val312=) c.583G= (p.Val195=) | |
1 | g.155294672C>G | CA342754487 | PKLR | c.775G>C (p.Val259Leu) c.682G>C (p.Val228Leu) c.934G>C (p.Val312Leu) c.583G>C (p.Val195Leu) | |
1 | g.155294672C>T | CA30903403 | PKLR | c.775G>A (p.Val259Met) c.682G>A (p.Val228Met) c.934G>A (p.Val312Met) c.583G>A (p.Val195Met) | dbSNP |
1 | g.155294673C>A | CA342754490 | PKLR | c.774G>T (p.Gln258His) c.681G>T (p.Gln227His) c.933G>T (p.Gln311His) c.582G>T (p.Gln194His) | |
1 | g.155294673C>G | CA342754491 | PKLR | c.774G>C (p.Gln258His) c.681G>C (p.Gln227His) c.933G>C (p.Gln311His) c.582G>C (p.Gln194His) | |
1 | g.155294673C>T | CA421245732 | PKLR | c.774G>A (p.Gln258=) c.681G>A (p.Gln227=) c.933G>A (p.Gln311=) c.582G>A (p.Gln194=) | gnomAD v4 |
1 | g.155294674T>A | CA342754495 | PKLR | c.773A>T (p.Gln258Leu) c.680A>T (p.Gln227Leu) c.932A>T (p.Gln311Leu) c.581A>T (p.Gln194Leu) | |
1 | g.155294674T>C | CA342754496 | PKLR | c.773A>G (p.Gln258Arg) c.680A>G (p.Gln227Arg) c.932A>G (p.Gln311Arg) c.581A>G (p.Gln194Arg) | |
1 | g.155294674T>G | CA342754498 | PKLR | c.773A>C (p.Gln258Pro) c.680A>C (p.Gln227Pro) c.932A>C (p.Gln311Pro) c.581A>C (p.Gln194Pro) | |
1 | g.155294675G>A | CA342754501 | PKLR | c.772C>T (p.Gln258Ter) c.679C>T (p.Gln227Ter) c.931C>T (p.Gln311Ter) c.580C>T (p.Gln194Ter) | |
1 | g.155294675G>C | CA342754502 | PKLR | c.772C>G (p.Gln258Glu) c.679C>G (p.Gln227Glu) c.931C>G (p.Gln311Glu) c.580C>G (p.Gln194Glu) | |
1 | g.155294675G>T | CA342754503 | PKLR | c.772C>A (p.Gln258Lys) c.679C>A (p.Gln227Lys) c.931C>A (p.Gln311Lys) c.580C>A (p.Gln194Lys) | |
1 | g.155294676G>A | CA421245734 | PKLR | c.771C>T (p.Ala257=) c.678C>T (p.Ala226=) c.930C>T (p.Ala310=) c.579C>T (p.Ala193=) | gnomAD v4 |
1 | g.155294676G>C | CA421245735 | PKLR | c.771C>G (p.Ala257=) c.678C>G (p.Ala226=) c.930C>G (p.Ala310=) c.579C>G (p.Ala193=) | |
1 | g.155294676G= | CA1200112255 | PKLR | c.771C= (p.Ala257=) c.678C= (p.Ala226=) c.930C= (p.Ala310=) c.579C= (p.Ala193=) | |
1 | g.155294676G>T | CA421245736 | PKLR | c.771C>A (p.Ala257=) c.678C>A (p.Ala226=) c.930C>A (p.Ala310=) c.579C>A (p.Ala193=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294677G>A | CA1144216 | PKLR | c.770C>T (p.Ala257Val) c.677C>T (p.Ala226Val) c.929C>T (p.Ala310Val) c.578C>T (p.Ala193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294677G>C | CA342754507 | PKLR | c.770C>G (p.Ala257Gly) c.677C>G (p.Ala226Gly) c.929C>G (p.Ala310Gly) c.578C>G (p.Ala193Gly) | |
1 | g.155294677G= | CA1200112256 | PKLR | c.770C= (p.Ala257=) c.677C= (p.Ala226=) c.929C= (p.Ala310=) c.578C= (p.Ala193=) | |
1 | g.155294677G>T | CA342754509 | PKLR | c.770C>A (p.Ala257Asp) c.677C>A (p.Ala226Asp) c.929C>A (p.Ala310Asp) c.578C>A (p.Ala193Asp) | |
1 | g.155294678C>A | CA342754515 | PKLR | c.769G>T (p.Ala257Ser) c.676G>T (p.Ala226Ser) c.928G>T (p.Ala310Ser) c.577G>T (p.Ala193Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294678C= | CA1200112257 | PKLR | c.769G= (p.Ala257=) c.676G= (p.Ala226=) c.928G= (p.Ala310=) c.577G= (p.Ala193=) | |
1 | g.155294678C>G | CA342754513 | PKLR | c.769G>C (p.Ala257Pro) c.676G>C (p.Ala226Pro) c.928G>C (p.Ala310Pro) c.577G>C (p.Ala193Pro) | |
1 | g.155294678C>T | CA1144217 | PKLR | c.769G>A (p.Ala257Thr) c.676G>A (p.Ala226Thr) c.928G>A (p.Ala310Thr) c.577G>A (p.Ala193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294679C>A | CA421245745 | PKLR | c.768G>T (p.Gly256=) c.675G>T (p.Gly225=) c.927G>T (p.Gly309=) c.576G>T (p.Gly192=) | |
1 | g.155294679C>G | CA421245743 | PKLR | c.768G>C (p.Gly256=) c.675G>C (p.Gly225=) c.927G>C (p.Gly309=) c.576G>C (p.Gly192=) | |
1 | g.155294679C>T | CA421245744 | PKLR | c.768G>A (p.Gly256=) c.675G>A (p.Gly225=) c.927G>A (p.Gly309=) c.576G>A (p.Gly192=) | |
1 | g.155294680C>A | CA342754520 | PKLR | c.767G>T (p.Gly256Val) c.674G>T (p.Gly225Val) c.926G>T (p.Gly309Val) c.575G>T (p.Gly192Val) | |
1 | g.155294680C= | CA1200112258 | PKLR | c.767G= (p.Gly256=) c.674G= (p.Gly225=) c.926G= (p.Gly309=) c.575G= (p.Gly192=) | |
1 | g.155294680C>G | CA342754517 | PKLR | c.767G>C (p.Gly256Ala) c.674G>C (p.Gly225Ala) c.926G>C (p.Gly309Ala) c.575G>C (p.Gly192Ala) | |
1 | g.155294680C>T | CA342754519 | PKLR | c.767G>A (p.Gly256Glu) c.674G>A (p.Gly225Glu) c.926G>A (p.Gly309Glu) c.575G>A (p.Gly192Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.155294681C>A | CA342754523 | PKLR | c.766G>T (p.Gly256Trp) c.673G>T (p.Gly225Trp) c.925G>T (p.Gly309Trp) c.574G>T (p.Gly192Trp) | |
1 | g.155294681C>G | CA342754524 | PKLR | c.766G>C (p.Gly256Arg) c.673G>C (p.Gly225Arg) c.925G>C (p.Gly309Arg) c.574G>C (p.Gly192Arg) | |
1 | g.155294681C>T | CA342754526 | PKLR | c.766G>A (p.Gly256Arg) c.673G>A (p.Gly225Arg) c.925G>A (p.Gly309Arg) c.574G>A (p.Gly192Arg) | |
1 | g.155294682T>A | CA421245748 | PKLR | c.765A>T (p.Pro255=) c.672A>T (p.Pro224=) c.924A>T (p.Pro308=) c.573A>T (p.Pro191=) | |
1 | g.155294682T>C | CA1144218 | PKLR | c.765A>G (p.Pro255=) c.672A>G (p.Pro224=) c.924A>G (p.Pro308=) c.573A>G (p.Pro191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294682T>G | CA421245750 | PKLR | c.765A>C (p.Pro255=) c.672A>C (p.Pro224=) c.924A>C (p.Pro308=) c.573A>C (p.Pro191=) | |
1 | g.155294682T= | CA1200112259 | PKLR | c.765A= (p.Pro255=) c.672A= (p.Pro224=) c.924A= (p.Pro308=) c.573A= (p.Pro191=) | |
1 | g.155294683G>A | CA342754536 | PKLR | c.764C>T (p.Pro255Leu) c.671C>T (p.Pro224Leu) c.923C>T (p.Pro308Leu) c.572C>T (p.Pro191Leu) | |
1 | g.155294683G>C | CA342754531 | PKLR | c.764C>G (p.Pro255Arg) c.671C>G (p.Pro224Arg) c.923C>G (p.Pro308Arg) c.572C>G (p.Pro191Arg) | |
1 | g.155294683G= | CA1200112260 | PKLR | c.764C= (p.Pro255=) c.671C= (p.Pro224=) c.923C= (p.Pro308=) c.572C= (p.Pro191=) | |
1 | g.155294683G>T | CA342754534 | PKLR | c.764C>A (p.Pro255Gln) c.671C>A (p.Pro224Gln) c.923C>A (p.Pro308Gln) c.572C>A (p.Pro191Gln) | dbSNP |
1 | g.155294684G>A | CA342754538 | PKLR | c.763C>T (p.Pro255Ser) c.670C>T (p.Pro224Ser) c.922C>T (p.Pro308Ser) c.571C>T (p.Pro191Ser) | |
1 | g.155294684G>C | CA342754540 | PKLR | c.763C>G (p.Pro255Ala) c.670C>G (p.Pro224Ala) c.922C>G (p.Pro308Ala) c.571C>G (p.Pro191Ala) | |
1 | g.155294684G>T | CA342754541 | PKLR | c.763C>A (p.Pro255Thr) c.670C>A (p.Pro224Thr) c.922C>A (p.Pro308Thr) c.571C>A (p.Pro191Thr) | |
1 | g.155294685C>A | CA342754543 | PKLR | c.762G>T (p.Leu254Phe) c.669G>T (p.Leu223Phe) c.921G>T (p.Leu307Phe) c.570G>T (p.Leu190Phe) | |
1 | g.155294685C= | CA1200112261 | PKLR | c.762G= (p.Leu254=) c.669G= (p.Leu223=) c.921G= (p.Leu307=) c.570G= (p.Leu190=) | |
1 | g.155294685C>G | CA342754544 | PKLR | c.762G>C (p.Leu254Phe) c.669G>C (p.Leu223Phe) c.921G>C (p.Leu307Phe) c.570G>C (p.Leu190Phe) | ClinVar dbSNP |
1 | g.155294685C>T | CA30903412 | PKLR | c.762G>A (p.Leu254=) c.669G>A (p.Leu223=) c.921G>A (p.Leu307=) c.570G>A (p.Leu190=) | dbSNP |
1 | g.155294686A>C | CA342754546 | PKLR | c.761T>G (p.Leu254Trp) c.668T>G (p.Leu223Trp) c.920T>G (p.Leu307Trp) c.569T>G (p.Leu190Trp) | |
1 | g.155294686A>G | CA342754549 | PKLR | c.761T>C (p.Leu254Ser) c.668T>C (p.Leu223Ser) c.920T>C (p.Leu307Ser) c.569T>C (p.Leu190Ser) | |
1 | g.155294686A>T | CA342754548 | PKLR | c.761T>A (p.Leu254Ter) c.668T>A (p.Leu223Ter) c.920T>A (p.Leu307Ter) c.569T>A (p.Leu190Ter) | |
1 | g.155294687A>C | CA342754552 | PKLR | c.760T>G (p.Leu254Val) c.667T>G (p.Leu223Val) c.919T>G (p.Leu307Val) c.568T>G (p.Leu190Val) | |
1 | g.155294687A>G | CA421245757 | PKLR | c.760T>C (p.Leu254=) c.667T>C (p.Leu223=) c.919T>C (p.Leu307=) c.568T>C (p.Leu190=) | |
1 | g.155294687A>T | CA342754554 | PKLR | c.760T>A (p.Leu254Met) c.667T>A (p.Leu223Met) c.919T>A (p.Leu307Met) c.568T>A (p.Leu190Met) | |
1 | g.155294688G>A | CA1144219 | PKLR | c.759C>T (p.Asn253=) c.666C>T (p.Asn222=) c.918C>T (p.Asn306=) c.567C>T (p.Asn189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294688G>C | CA342754557 | PKLR | c.759C>G (p.Asn253Lys) c.666C>G (p.Asn222Lys) c.918C>G (p.Asn306Lys) c.567C>G (p.Asn189Lys) | |
1 | g.155294688G= | CA1200112262 | PKLR | c.759C= (p.Asn253=) c.666C= (p.Asn222=) c.918C= (p.Asn306=) c.567C= (p.Asn189=) | |
1 | g.155294688G>T | CA342754559 | PKLR | c.759C>A (p.Asn253Lys) c.666C>A (p.Asn222Lys) c.918C>A (p.Asn306Lys) c.567C>A (p.Asn189Lys) | gnomAD v4 |
1 | g.155294689T>A | CA342754561 | PKLR | c.758A>T (p.Asn253Ile) c.665A>T (p.Asn222Ile) c.917A>T (p.Asn306Ile) c.566A>T (p.Asn189Ile) | |
1 | g.155294689T>C | CA342754563 | PKLR | c.758A>G (p.Asn253Ser) c.665A>G (p.Asn222Ser) c.917A>G (p.Asn306Ser) c.566A>G (p.Asn189Ser) | |
1 | g.155294689T>G | CA342754564 | PKLR | c.758A>C (p.Asn253Thr) c.665A>C (p.Asn222Thr) c.917A>C (p.Asn306Thr) c.566A>C (p.Asn189Thr) | |
1 | g.155294689_155294690del | CA2648269434 | PKLR | c.757_758del (p.Asn253LeufsTer?) c.664_665del (p.Asn222LeufsTer?) c.916_917del (p.Asn306LeufsTer?) c.565_566del (p.Asn189LeufsTer?) | gnomAD v4 |
1 | g.155294690T>A | CA342754567 | PKLR | c.757A>T (p.Asn253Tyr) c.664A>T (p.Asn222Tyr) c.916A>T (p.Asn306Tyr) c.565A>T (p.Asn189Tyr) | dbSNP |
1 | g.155294690T>C | CA342754569 | PKLR | c.757A>G (p.Asn253Asp) c.664A>G (p.Asn222Asp) c.916A>G (p.Asn306Asp) c.565A>G (p.Asn189Asp) | |
1 | g.155294690T>G | CA342754570 | PKLR | c.757A>C (p.Asn253His) c.664A>C (p.Asn222His) c.916A>C (p.Asn306His) c.565A>C (p.Asn189His) | |
1 | g.155294690T= | CA1200112263 | PKLR | c.757A= (p.Asn253=) c.664A= (p.Asn222=) c.916A= (p.Asn306=) c.565A= (p.Asn189=) | |
1 | g.155294691C>A | CA421245761 | PKLR | c.756G>T (p.Val252=) c.663G>T (p.Val221=) c.915G>T (p.Val305=) c.564G>T (p.Val188=) | |
1 | g.155294691C= | CA1148559084 | PKLR | c.756G= (p.Val252=) c.663G= (p.Val221=) c.915G= (p.Val305=) c.564G= (p.Val188=) | |
1 | g.155294691C>G | CA1144220 | PKLR | c.756G>C (p.Val252=) c.663G>C (p.Val221=) c.915G>C (p.Val305=) c.564G>C (p.Val188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294691C>T | CA421245762 | PKLR | c.756G>A (p.Val252=) c.663G>A (p.Val221=) c.915G>A (p.Val305=) c.564G>A (p.Val188=) | |
1 | g.155294692A>C | CA342754575 | PKLR | c.755T>G (p.Val252Gly) c.662T>G (p.Val221Gly) c.914T>G (p.Val305Gly) c.563T>G (p.Val188Gly) | |
1 | g.155294692A>G | CA342754578 | PKLR | c.755T>C (p.Val252Ala) c.662T>C (p.Val221Ala) c.914T>C (p.Val305Ala) c.563T>C (p.Val188Ala) | |
1 | g.155294692A>T | CA342754574 | PKLR | c.755T>A (p.Val252Glu) c.662T>A (p.Val221Glu) c.914T>A (p.Val305Glu) c.563T>A (p.Val188Glu) | |
1 | g.155294693C>A | CA342754581 | PKLR | c.754G>T (p.Val252Leu) c.661G>T (p.Val221Leu) c.913G>T (p.Val305Leu) c.562G>T (p.Val188Leu) | |
1 | g.155294693C= | CA1200112264 | PKLR | c.754G= (p.Val252=) c.661G= (p.Val221=) c.913G= (p.Val305=) c.562G= (p.Val188=) | |
1 | g.155294693C>G | CA342754584 | PKLR | c.754G>C (p.Val252Leu) c.661G>C (p.Val221Leu) c.913G>C (p.Val305Leu) c.562G>C (p.Val188Leu) | |
1 | g.155294693C>T | CA342754583 | PKLR | c.754G>A (p.Val252Met) c.661G>A (p.Val221Met) c.913G>A (p.Val305Met) c.562G>A (p.Val188Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294694G>A | CA421245769 | PKLR | c.753C>T (p.Gly251=) c.660C>T (p.Gly220=) c.912C>T (p.Gly304=) c.561C>T (p.Gly187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294694G>C | CA421245770 | PKLR | c.753C>G (p.Gly251=) c.660C>G (p.Gly220=) c.912C>G (p.Gly304=) c.561C>G (p.Gly187=) | |
1 | g.155294694G= | CA1200112265 | PKLR | c.753C= (p.Gly251=) c.660C= (p.Gly220=) c.912C= (p.Gly304=) c.561C= (p.Gly187=) | |
1 | g.155294694G>T | CA421245771 | PKLR | c.753C>A (p.Gly251=) c.660C>A (p.Gly220=) c.912C>A (p.Gly304=) c.561C>A (p.Gly187=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294695C>A | CA342754588 | PKLR | c.752G>T (p.Gly251Val) c.659G>T (p.Gly220Val) c.911G>T (p.Gly304Val) c.560G>T (p.Gly187Val) | |
1 | g.155294695C>G | CA342754589 | PKLR | c.752G>C (p.Gly251Ala) c.659G>C (p.Gly220Ala) c.911G>C (p.Gly304Ala) c.560G>C (p.Gly187Ala) | |
1 | g.155294695C>T | CA342754590 | PKLR | c.752G>A (p.Gly251Asp) c.659G>A (p.Gly220Asp) c.911G>A (p.Gly304Asp) c.560G>A (p.Gly187Asp) | |
1 | g.155294697dup | CA2838437881 | PKLR | c.752dup (p.Val252ArgfsTer?) c.659dup (p.Val221ArgfsTer?) c.911dup (p.Val305ArgfsTer?) c.560dup (p.Val188ArgfsTer?) | |
1 | g.155294696C>A | CA30903450 | PKLR | c.751G>T (p.Gly251Cys) c.658G>T (p.Gly220Cys) c.910G>T (p.Gly304Cys) c.559G>T (p.Gly187Cys) | dbSNP gnomAD v2 |
1 | g.155294696C= | CA1143536925 | PKLR | c.751G= (p.Gly251=) c.658G= (p.Gly220=) c.910G= (p.Gly304=) c.559G= (p.Gly187=) | |
1 | g.155294696C>G | CA342754593 | PKLR | c.751G>C (p.Gly251Arg) c.658G>C (p.Gly220Arg) c.910G>C (p.Gly304Arg) c.559G>C (p.Gly187Arg) | |
1 | g.155294696C>T | CA30903451 | PKLR | c.751G>A (p.Gly251Ser) c.658G>A (p.Gly220Ser) c.910G>A (p.Gly304Ser) c.559G>A (p.Gly187Ser) | dbSNP COSMIC |
1 | g.155294697C>A | CA342754596 | PKLR | c.750G>T (p.Lys250Asn) c.657G>T (p.Lys219Asn) c.909G>T (p.Lys303Asn) c.558G>T (p.Lys186Asn) | |
1 | g.155294697C>G | CA342754598 | PKLR | c.750G>C (p.Lys250Asn) c.657G>C (p.Lys219Asn) c.909G>C (p.Lys303Asn) c.558G>C (p.Lys186Asn) | |
1 | g.155294697C>T | CA421245777 | PKLR | c.750G>A (p.Lys250=) c.657G>A (p.Lys219=) c.909G>A (p.Lys303=) c.558G>A (p.Lys186=) | dbSNP |
1 | g.155294698T>A | CA342754600 | PKLR | c.749A>T (p.Lys250Met) c.656A>T (p.Lys219Met) c.908A>T (p.Lys303Met) c.557A>T (p.Lys186Met) | |
1 | g.155294698T>C | CA342754602 | PKLR | c.749A>G (p.Lys250Arg) c.656A>G (p.Lys219Arg) c.908A>G (p.Lys303Arg) c.557A>G (p.Lys186Arg) | |
1 | g.155294698T>G | CA342754603 | PKLR | c.749A>C (p.Lys250Thr) c.656A>C (p.Lys219Thr) c.908A>C (p.Lys303Thr) c.557A>C (p.Lys186Thr) | |
1 | g.155294699T>A | CA342754609 | PKLR | c.748A>T (p.Lys250Ter) c.655A>T (p.Lys219Ter) c.907A>T (p.Lys303Ter) c.556A>T (p.Lys186Ter) | |
1 | g.155294699T>C | CA342754606 | PKLR | c.748A>G (p.Lys250Glu) c.655A>G (p.Lys219Glu) c.907A>G (p.Lys303Glu) c.556A>G (p.Lys186Glu) | gnomAD v4 |
1 | g.155294699T>G | CA342754607 | PKLR | c.748A>C (p.Lys250Gln) c.655A>C (p.Lys219Gln) c.907A>C (p.Lys303Gln) c.556A>C (p.Lys186Gln) | gnomAD v4 |
1 | g.155294700C>A | CA421245784 | PKLR | c.747G>T (p.Arg249=) c.654G>T (p.Arg218=) c.906G>T (p.Arg302=) c.555G>T (p.Arg185=) | dbSNP |
1 | g.155294700C= | CA1200112266 | PKLR | c.747G= (p.Arg249=) c.654G= (p.Arg218=) c.906G= (p.Arg302=) c.555G= (p.Arg185=) | |
1 | g.155294700C>G | CA421245779 | PKLR | c.747G>C (p.Arg249=) c.654G>C (p.Arg218=) c.906G>C (p.Arg302=) c.555G>C (p.Arg185=) | |
1 | g.155294700C>T | CA1144221 | PKLR | c.747G>A (p.Arg249=) c.654G>A (p.Arg218=) c.906G>A (p.Arg302=) c.555G>A (p.Arg185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294701C>A | CA342754612 | PKLR | c.746G>T (p.Arg249Leu) c.653G>T (p.Arg218Leu) c.905G>T (p.Arg302Leu) c.554G>T (p.Arg185Leu) | |
1 | g.155294701C= | CA1143623448 | PKLR | c.746G= (p.Arg249=) c.653G= (p.Arg218=) c.905G= (p.Arg302=) c.554G= (p.Arg185=) | |
1 | g.155294701C>G | CA342754614 | PKLR | c.746G>C (p.Arg249Pro) c.653G>C (p.Arg218Pro) c.905G>C (p.Arg302Pro) c.554G>C (p.Arg185Pro) | |
1 | g.155294701C>T | CA1144222 | PKLR | c.746G>A (p.Arg249Gln) c.653G>A (p.Arg218Gln) c.905G>A (p.Arg302Gln) c.554G>A (p.Arg185Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294702G>A | CA1144223 | PKLR | c.745C>T (p.Arg249Trp) c.652C>T (p.Arg218Trp) c.904C>T (p.Arg302Trp) c.553C>T (p.Arg185Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294702G>C | CA342754618 | PKLR | c.745C>G (p.Arg249Gly) c.652C>G (p.Arg218Gly) c.904C>G (p.Arg302Gly) c.553C>G (p.Arg185Gly) | |
1 | g.155294702G= | CA1149054015 | PKLR | c.745C= (p.Arg249=) c.652C= (p.Arg218=) c.904C= (p.Arg302=) c.553C= (p.Arg185=) | |
1 | g.155294702G>T | CA421245788 | PKLR | c.745C>A (p.Arg249=) c.652C>A (p.Arg218=) c.904C>A (p.Arg302=) c.553C>A (p.Arg185=) | |
1 | g.155294703G>A | CA30903476 | PKLR | c.744C>T (p.Ser248=) c.651C>T (p.Ser217=) c.903C>T (p.Ser301=) c.552C>T (p.Ser184=) | dbSNP |
1 | g.155294703G>C | CA342754619 | PKLR | c.744C>G (p.Ser248Arg) c.651C>G (p.Ser217Arg) c.903C>G (p.Ser301Arg) c.552C>G (p.Ser184Arg) | gnomAD v4 |
1 | g.155294703G= | CA1200112267 | PKLR | c.744C= (p.Ser248=) c.651C= (p.Ser217=) c.903C= (p.Ser301=) c.552C= (p.Ser184=) | |
1 | g.155294703G>T | CA342754621 | PKLR | c.744C>A (p.Ser248Arg) c.651C>A (p.Ser217Arg) c.903C>A (p.Ser301Arg) c.552C>A (p.Ser184Arg) | |
1 | g.155294704C>A | CA342754623 | PKLR | c.743G>T (p.Ser248Ile) c.650G>T (p.Ser217Ile) c.902G>T (p.Ser301Ile) c.551G>T (p.Ser184Ile) | |
1 | g.155294704C>G | CA342754625 | PKLR | c.743G>C (p.Ser248Thr) c.650G>C (p.Ser217Thr) c.902G>C (p.Ser301Thr) c.551G>C (p.Ser184Thr) | |
1 | g.155294704C>T | CA342754627 | PKLR | c.743G>A (p.Ser248Asn) c.650G>A (p.Ser217Asn) c.902G>A (p.Ser301Asn) c.551G>A (p.Ser184Asn) | |
1 | g.155294705T>A | CA342754631 | PKLR | c.742A>T (p.Ser248Cys) c.649A>T (p.Ser217Cys) c.901A>T (p.Ser301Cys) c.550A>T (p.Ser184Cys) | |
1 | g.155294705T>C | CA342754633 | PKLR | c.742A>G (p.Ser248Gly) c.649A>G (p.Ser217Gly) c.901A>G (p.Ser301Gly) c.550A>G (p.Ser184Gly) | |
1 | g.155294705T>G | CA342754629 | PKLR | c.742A>C (p.Ser248Arg) c.649A>C (p.Ser217Arg) c.901A>C (p.Ser301Arg) c.550A>C (p.Ser184Arg) | |
1 | g.155294706G>A | CA421245791 | PKLR | c.741C>T (p.Gly247=) c.648C>T (p.Gly216=) c.900C>T (p.Gly300=) c.549C>T (p.Gly183=) | dbSNP gnomAD v2 |
1 | g.155294706G>C | CA421245793 | PKLR | c.741C>G (p.Gly247=) c.648C>G (p.Gly216=) c.900C>G (p.Gly300=) c.549C>G (p.Gly183=) | |
1 | g.155294706G= | CA1200112268 | PKLR | c.741C= (p.Gly247=) c.648C= (p.Gly216=) c.900C= (p.Gly300=) c.549C= (p.Gly183=) | |
1 | g.155294706G>T | CA421245796 | PKLR | c.741C>A (p.Gly247=) c.648C>A (p.Gly216=) c.900C>A (p.Gly300=) c.549C>A (p.Gly183=) | |
1 | g.155294707C>A | CA342754636 | PKLR | c.740G>T (p.Gly247Val) c.647G>T (p.Gly216Val) c.899G>T (p.Gly300Val) c.548G>T (p.Gly183Val) | |
1 | g.155294707C= | CA1200112269 | PKLR | c.740G= (p.Gly247=) c.647G= (p.Gly216=) c.899G= (p.Gly300=) c.548G= (p.Gly183=) | |
1 | g.155294707C>G | CA342754637 | PKLR | c.740G>C (p.Gly247Ala) c.647G>C (p.Gly216Ala) c.899G>C (p.Gly300Ala) c.548G>C (p.Gly183Ala) | |
1 | g.155294707C>T | CA342754639 | PKLR | c.740G>A (p.Gly247Asp) c.647G>A (p.Gly216Asp) c.899G>A (p.Gly300Asp) c.548G>A (p.Gly183Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.155294708C>A | CA342754641 | PKLR | c.739G>T (p.Gly247Cys) c.646G>T (p.Gly216Cys) c.898G>T (p.Gly300Cys) c.547G>T (p.Gly183Cys) | |
1 | g.155294708C= | CA1200112270 | PKLR | c.739G= (p.Gly247=) c.646G= (p.Gly216=) c.898G= (p.Gly300=) c.547G= (p.Gly183=) | |
1 | g.155294708C>G | CA342754643 | PKLR | c.739G>C (p.Gly247Arg) c.646G>C (p.Gly216Arg) c.898G>C (p.Gly300Arg) c.547G>C (p.Gly183Arg) | gnomAD v4 |
1 | g.155294708C>T | CA342754645 | PKLR | c.739G>A (p.Gly247Ser) c.646G>A (p.Gly216Ser) c.898G>A (p.Gly300Ser) c.547G>A (p.Gly183Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294709C>A | CA421245799 | PKLR | c.738G>T (p.Leu246=) c.645G>T (p.Leu215=) c.897G>T (p.Leu299=) c.546G>T (p.Leu182=) | |
1 | g.155294709C>G | CA421245801 | PKLR | c.738G>C (p.Leu246=) c.645G>C (p.Leu215=) c.897G>C (p.Leu299=) c.546G>C (p.Leu182=) | |
1 | g.155294709C>T | CA421245803 | PKLR | c.738G>A (p.Leu246=) c.645G>A (p.Leu215=) c.897G>A (p.Leu299=) c.546G>A (p.Leu182=) | |
1 | g.155294710A>C | CA342754651 | PKLR | c.737T>G (p.Leu246Arg) c.644T>G (p.Leu215Arg) c.896T>G (p.Leu299Arg) c.545T>G (p.Leu182Arg) | |
1 | g.155294710A>G | CA342754647 | PKLR | c.737T>C (p.Leu246Pro) c.644T>C (p.Leu215Pro) c.896T>C (p.Leu299Pro) c.545T>C (p.Leu182Pro) | |
1 | g.155294710A>T | CA342754649 | PKLR | c.737T>A (p.Leu246Gln) c.644T>A (p.Leu215Gln) c.896T>A (p.Leu299Gln) c.545T>A (p.Leu182Gln) | |
1 | g.155294711G>A | CA421245807 | PKLR | c.736C>T (p.Leu246=) c.643C>T (p.Leu215=) c.895C>T (p.Leu299=) c.544C>T (p.Leu182=) | |
1 | g.155294711G>C | CA342754652 | PKLR | c.736C>G (p.Leu246Val) c.643C>G (p.Leu215Val) c.895C>G (p.Leu299Val) c.544C>G (p.Leu182Val) | |
1 | g.155294711G>T | CA342754653 | PKLR | c.736C>A (p.Leu246Met) c.643C>A (p.Leu215Met) c.895C>A (p.Leu299Met) c.544C>A (p.Leu182Met) | |
1 | g.155294712G>A | CA421245808 | PKLR | c.735C>T (p.Val245=) c.642C>T (p.Val214=) c.894C>T (p.Val298=) c.543C>T (p.Val181=) | |
1 | g.155294712G>C | CA421245810 | PKLR | c.735C>G (p.Val245=) c.642C>G (p.Val214=) c.894C>G (p.Val298=) c.543C>G (p.Val181=) | |
1 | g.155294712G>T | CA421245813 | PKLR | c.735C>A (p.Val245=) c.642C>A (p.Val214=) c.894C>A (p.Val298=) c.543C>A (p.Val181=) | |
1 | g.155294713A>C | CA342754656 | PKLR | c.734T>G (p.Val245Gly) c.641T>G (p.Val214Gly) c.893T>G (p.Val298Gly) c.542T>G (p.Val181Gly) | |
1 | g.155294713A>G | CA342754657 | PKLR | c.734T>C (p.Val245Ala) c.641T>C (p.Val214Ala) c.893T>C (p.Val298Ala) c.542T>C (p.Val181Ala) | |
1 | g.155294713A>T | CA342754659 | PKLR | c.734T>A (p.Val245Asp) c.641T>A (p.Val214Asp) c.893T>A (p.Val298Asp) c.542T>A (p.Val181Asp) | |
1 | g.155294714C>A | CA342754661 | PKLR | c.733G>T (p.Val245Phe) c.640G>T (p.Val214Phe) c.892G>T (p.Val298Phe) c.541G>T (p.Val181Phe) | |
1 | g.155294714C= | CA1146403765 | PKLR | c.733G= (p.Val245=) c.640G= (p.Val214=) c.892G= (p.Val298=) c.541G= (p.Val181=) | |
1 | g.155294714C>G | CA342754664 | PKLR | c.733G>C (p.Val245Leu) c.640G>C (p.Val214Leu) c.892G>C (p.Val298Leu) c.541G>C (p.Val181Leu) | |
1 | g.155294714C>T | CA1144224 | PKLR | c.733G>A (p.Val245Ile) c.640G>A (p.Val214Ile) c.892G>A (p.Val298Ile) c.541G>A (p.Val181Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294715_155294724del | CA2586967540 | PKLR | c.724_733del (p.Asn242SerfsTer8) c.631_640del (p.Asn211SerfsTer8) c.883_892del (p.Asn295SerfsTer8) c.532_541del (p.Asn178SerfsTer8) | |
1 | g.155294715G>A | CA421245821 | PKLR | c.732C>T (p.Gly244=) c.639C>T (p.Gly213=) c.891C>T (p.Gly297=) c.540C>T (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294715G>C | CA421245818 | PKLR | c.732C>G (p.Gly244=) c.639C>G (p.Gly213=) c.891C>G (p.Gly297=) c.540C>G (p.Gly180=) | |
1 | g.155294715G= | CA1200112271 | PKLR | c.732C= (p.Gly244=) c.639C= (p.Gly213=) c.891C= (p.Gly297=) c.540C= (p.Gly180=) | |
1 | g.155294715G>T | CA421245819 | PKLR | c.732C>A (p.Gly244=) c.639C>A (p.Gly213=) c.891C>A (p.Gly297=) c.540C>A (p.Gly180=) | gnomAD v4 |
1 | g.155294716C>A | CA342754666 | PKLR | c.731G>T (p.Gly244Val) c.638G>T (p.Gly213Val) c.890G>T (p.Gly297Val) c.539G>T (p.Gly180Val) | |
1 | g.155294716C= | CA1200112272 | PKLR | c.731G= (p.Gly244=) c.638G= (p.Gly213=) c.890G= (p.Gly297=) c.539G= (p.Gly180=) | |
1 | g.155294716C>G | CA342754668 | PKLR | c.731G>C (p.Gly244Ala) c.638G>C (p.Gly213Ala) c.890G>C (p.Gly297Ala) c.539G>C (p.Gly180Ala) | |
1 | g.155294716C>T | CA1144225 | PKLR | c.731G>A (p.Gly244Asp) c.638G>A (p.Gly213Asp) c.890G>A (p.Gly297Asp) c.539G>A (p.Gly180Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294717C>A | CA342754671 | PKLR | c.730G>T (p.Gly244Cys) c.637G>T (p.Gly213Cys) c.889G>T (p.Gly297Cys) c.538G>T (p.Gly180Cys) | gnomAD v4 |
1 | g.155294717C= | CA1200112273 | PKLR | c.730G= (p.Gly244=) c.637G= (p.Gly213=) c.889G= (p.Gly297=) c.538G= (p.Gly180=) | |
1 | g.155294717C>G | CA342754673 | PKLR | c.730G>C (p.Gly244Arg) c.637G>C (p.Gly213Arg) c.889G>C (p.Gly297Arg) c.538G>C (p.Gly180Arg) | |
1 | g.155294717C>T | CA30903497 | PKLR | c.730G>A (p.Gly244Ser) c.637G>A (p.Gly213Ser) c.889G>A (p.Gly297Ser) c.538G>A (p.Gly180Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294718G>A | CA421245824 | PKLR | c.729C>T (p.Gly243=) c.636C>T (p.Gly212=) c.888C>T (p.Gly296=) c.537C>T (p.Gly179=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294718G>C | CA421245826 | PKLR | c.729C>G (p.Gly243=) c.636C>G (p.Gly212=) c.888C>G (p.Gly296=) c.537C>G (p.Gly179=) | |
1 | g.155294718G= | CA1200112274 | PKLR | c.729C= (p.Gly243=) c.636C= (p.Gly212=) c.888C= (p.Gly296=) c.537C= (p.Gly179=) | |
1 | g.155294718G>T | CA421245828 | PKLR | c.729C>A (p.Gly243=) c.636C>A (p.Gly212=) c.888C>A (p.Gly296=) c.537C>A (p.Gly179=) | |
1 | g.155294719C>A | CA342754677 | PKLR | c.728G>T (p.Gly243Val) c.635G>T (p.Gly212Val) c.887G>T (p.Gly296Val) c.536G>T (p.Gly179Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294719C= | CA1200112275 | PKLR | c.728G= (p.Gly243=) c.635G= (p.Gly212=) c.887G= (p.Gly296=) c.536G= (p.Gly179=) | |
1 | g.155294719C>G | CA342754679 | PKLR | c.728G>C (p.Gly243Ala) c.635G>C (p.Gly212Ala) c.887G>C (p.Gly296Ala) c.536G>C (p.Gly179Ala) | |
1 | g.155294719C>T | CA342754681 | PKLR | c.728G>A (p.Gly243Asp) c.635G>A (p.Gly212Asp) c.887G>A (p.Gly296Asp) c.536G>A (p.Gly179Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294720C>A | CA342754685 | PKLR | c.727G>T (p.Gly243Cys) c.634G>T (p.Gly212Cys) c.886G>T (p.Gly296Cys) c.535G>T (p.Gly179Cys) | ClinVar |
1 | g.155294720C= | CA1148262846 | PKLR | c.727G= (p.Gly243=) c.634G= (p.Gly212=) c.886G= (p.Gly296=) c.535G= (p.Gly179=) | |
1 | g.155294720C>G | CA342754688 | PKLR | c.727G>C (p.Gly243Arg) c.634G>C (p.Gly212Arg) c.886G>C (p.Gly296Arg) c.535G>C (p.Gly179Arg) | ClinVar gnomAD v4 |
1 | g.155294720C>T | CA1144226 | PKLR | c.727G>A (p.Gly243Ser) c.634G>A (p.Gly212Ser) c.886G>A (p.Gly296Ser) c.535G>A (p.Gly179Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |