Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74896213G>A | CA7662531 | MPI | c.732G>A (p.Gln244=) c.549G>A (p.Gln183=) c.582G>A (p.Gln194=) c.672G>A (p.Gln224=) c.256-1326G>A (n.256-1326G>A) c.399G>A (p.Gln133=) n.780G>A c.510G>A (p.Gln170=) c.720G>A (p.Gln240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896213G>C | CA393175889 | MPI | c.732G>C (p.Gln244His) c.549G>C (p.Gln183His) c.582G>C (p.Gln194His) c.672G>C (p.Gln224His) c.256-1326G>C (n.256-1326G>C) c.399G>C (p.Gln133His) n.780G>C c.510G>C (p.Gln170His) c.720G>C (p.Gln240His) | |
15 | g.74896213G= | CA2187901795 | MPI | c.732G= (p.Gln244=) c.549G= (p.Gln183=) c.582G= (p.Gln194=) c.672G= (p.Gln224=) c.256-1326G= (n.256-1326G=) c.399G= (p.Gln133=) n.780G= c.510G= (p.Gln170=) c.720G= (p.Gln240=) | |
15 | g.74896213G>T | CA393175890 | MPI | c.732G>T (p.Gln244His) c.549G>T (p.Gln183His) c.582G>T (p.Gln194His) c.672G>T (p.Gln224His) c.256-1326G>T (n.256-1326G>T) c.399G>T (p.Gln133His) n.780G>T c.510G>T (p.Gln170His) c.720G>T (p.Gln240His) | |
15 | g.74896214T>A | CA393175891 | MPI | c.733T>A (p.Tyr245Asn) c.550T>A (p.Tyr184Asn) c.583T>A (p.Tyr195Asn) c.673T>A (p.Tyr225Asn) c.256-1325T>A (n.256-1325T>A) c.400T>A (p.Tyr134Asn) n.781T>A c.511T>A (p.Tyr171Asn) c.721T>A (p.Tyr241Asn) | gnomAD v4 |
15 | g.74896214T>C | CA393175892 | MPI | c.733T>C (p.Tyr245His) c.550T>C (p.Tyr184His) c.583T>C (p.Tyr195His) c.673T>C (p.Tyr225His) c.256-1325T>C (n.256-1325T>C) c.400T>C (p.Tyr134His) n.781T>C c.511T>C (p.Tyr171His) c.721T>C (p.Tyr241His) | |
15 | g.74896214T>G | CA393175893 | MPI | c.733T>G (p.Tyr245Asp) c.550T>G (p.Tyr184Asp) c.583T>G (p.Tyr195Asp) c.673T>G (p.Tyr225Asp) c.256-1325T>G (n.256-1325T>G) c.400T>G (p.Tyr134Asp) n.781T>G c.511T>G (p.Tyr171Asp) c.721T>G (p.Tyr241Asp) | |
15 | g.74896215A>C | CA393175894 | MPI | c.734A>C (p.Tyr245Ser) c.551A>C (p.Tyr184Ser) c.584A>C (p.Tyr195Ser) c.674A>C (p.Tyr225Ser) c.256-1324A>C (n.256-1324A>C) c.401A>C (p.Tyr134Ser) n.782A>C c.512A>C (p.Tyr171Ser) c.722A>C (p.Tyr241Ser) | |
15 | g.74896215A>G | CA393175895 | MPI | c.734A>G (p.Tyr245Cys) c.551A>G (p.Tyr184Cys) c.584A>G (p.Tyr195Cys) c.674A>G (p.Tyr225Cys) c.256-1324A>G (n.256-1324A>G) c.401A>G (p.Tyr134Cys) n.782A>G c.512A>G (p.Tyr171Cys) c.722A>G (p.Tyr241Cys) | |
15 | g.74896215A>T | CA393175896 | MPI | c.734A>T (p.Tyr245Phe) c.551A>T (p.Tyr184Phe) c.584A>T (p.Tyr195Phe) c.674A>T (p.Tyr225Phe) c.256-1324A>T (n.256-1324A>T) c.401A>T (p.Tyr134Phe) n.782A>T c.512A>T (p.Tyr171Phe) c.722A>T (p.Tyr241Phe) | |
15 | g.74896216C>A | CA393175897 | MPI | c.735C>A (p.Tyr245Ter) c.552C>A (p.Tyr184Ter) c.585C>A (p.Tyr195Ter) c.675C>A (p.Tyr225Ter) c.256-1323C>A (n.256-1323C>A) c.402C>A (p.Tyr134Ter) n.783C>A c.513C>A (p.Tyr171Ter) c.723C>A (p.Tyr241Ter) | |
15 | g.74896216C>G | CA393175898 | MPI | c.735C>G (p.Tyr245Ter) c.552C>G (p.Tyr184Ter) c.585C>G (p.Tyr195Ter) c.675C>G (p.Tyr225Ter) c.256-1323C>G (n.256-1323C>G) c.402C>G (p.Tyr134Ter) n.783C>G c.513C>G (p.Tyr171Ter) c.723C>G (p.Tyr241Ter) | |
15 | g.74896216C>T | CA491491394 | MPI | c.735C>T (p.Tyr245=) c.552C>T (p.Tyr184=) c.585C>T (p.Tyr195=) c.675C>T (p.Tyr225=) c.256-1323C>T (n.256-1323C>T) c.402C>T (p.Tyr134=) n.783C>T c.513C>T (p.Tyr171=) c.723C>T (p.Tyr241=) | |
15 | g.74896216_74896221del | CA2629530533 | MPI | c.735_740del (p.Pro246_Gly247del) c.552_557del (p.Pro185_Gly186del) c.585_590del (p.Pro196_Gly197del) c.675_680del (p.Pro226_Gly227del) c.256-1323_256-1318del (n.256-1323_256-1318del) c.402_407del (p.Pro135_Gly136del) n.783_788del c.513_518del (p.Pro172_Gly173del) c.723_728del (p.Pro242_Gly243del) | gnomAD v4 |
15 | g.74896217C>A | CA393175901 | MPI | c.736C>A (p.Pro246Thr) c.553C>A (p.Pro185Thr) c.586C>A (p.Pro196Thr) c.676C>A (p.Pro226Thr) c.256-1322C>A (n.256-1322C>A) c.403C>A (p.Pro135Thr) n.784C>A c.514C>A (p.Pro172Thr) c.724C>A (p.Pro242Thr) | |
15 | g.74896217C>G | CA393175900 | MPI | c.736C>G (p.Pro246Ala) c.553C>G (p.Pro185Ala) c.586C>G (p.Pro196Ala) c.676C>G (p.Pro226Ala) c.256-1322C>G (n.256-1322C>G) c.403C>G (p.Pro135Ala) n.784C>G c.514C>G (p.Pro172Ala) c.724C>G (p.Pro242Ala) | |
15 | g.74896217C>T | CA393175899 | MPI | c.736C>T (p.Pro246Ser) c.553C>T (p.Pro185Ser) c.586C>T (p.Pro196Ser) c.676C>T (p.Pro226Ser) c.256-1322C>T (n.256-1322C>T) c.403C>T (p.Pro135Ser) n.784C>T c.514C>T (p.Pro172Ser) c.724C>T (p.Pro242Ser) | |
15 | g.74896218C>A | CA393175902 | MPI | c.737C>A (p.Pro246Gln) c.554C>A (p.Pro185Gln) c.587C>A (p.Pro196Gln) c.677C>A (p.Pro226Gln) c.256-1321C>A (n.256-1321C>A) c.404C>A (p.Pro135Gln) n.785C>A c.515C>A (p.Pro172Gln) c.725C>A (p.Pro242Gln) | |
15 | g.74896218C= | CA2187901800 | MPI | c.737C= (p.Pro246=) c.554C= (p.Pro185=) c.587C= (p.Pro196=) c.677C= (p.Pro226=) c.256-1321C= (n.256-1321C=) c.404C= (p.Pro135=) n.785C= c.515C= (p.Pro172=) c.725C= (p.Pro242=) | |
15 | g.74896218C>G | CA393175904 | MPI | c.737C>G (p.Pro246Arg) c.554C>G (p.Pro185Arg) c.587C>G (p.Pro196Arg) c.677C>G (p.Pro226Arg) c.256-1321C>G (n.256-1321C>G) c.404C>G (p.Pro135Arg) n.785C>G c.515C>G (p.Pro172Arg) c.725C>G (p.Pro242Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896218C>T | CA393175903 | MPI | c.737C>T (p.Pro246Leu) c.554C>T (p.Pro185Leu) c.587C>T (p.Pro196Leu) c.677C>T (p.Pro226Leu) c.256-1321C>T (n.256-1321C>T) c.404C>T (p.Pro135Leu) n.785C>T c.515C>T (p.Pro172Leu) c.725C>T (p.Pro242Leu) | |
15 | g.74896219A>C | CA491491395 | MPI | c.738A>C (p.Pro246=) c.555A>C (p.Pro185=) c.588A>C (p.Pro196=) c.678A>C (p.Pro226=) c.256-1320A>C (n.256-1320A>C) c.405A>C (p.Pro135=) n.786A>C c.516A>C (p.Pro172=) c.726A>C (p.Pro242=) | |
15 | g.74896219A>G | CA491491396 | MPI | c.738A>G (p.Pro246=) c.555A>G (p.Pro185=) c.588A>G (p.Pro196=) c.678A>G (p.Pro226=) c.256-1320A>G (n.256-1320A>G) c.405A>G (p.Pro135=) n.786A>G c.516A>G (p.Pro172=) c.726A>G (p.Pro242=) | |
15 | g.74896219A>T | CA491491397 | MPI | c.738A>T (p.Pro246=) c.555A>T (p.Pro185=) c.588A>T (p.Pro196=) c.678A>T (p.Pro226=) c.256-1320A>T (n.256-1320A>T) c.405A>T (p.Pro135=) n.786A>T c.516A>T (p.Pro172=) c.726A>T (p.Pro242=) | |
15 | g.74896219_74896220delinsAG | CA2187901802 | MPI | c.738_739delinsAG (p.Pro246=) c.555_556delinsAG (p.Pro185=) c.588_589delinsAG (p.Pro196=) c.678_679delinsAG (p.Pro226=) c.256-1320_256-1319delinsAG (n.256-1320_256-1319delinsAG) c.405_406delinsAG (p.Pro135=) n.786_787delinsAG c.516_517delinsAG (p.Pro172=) c.726_727delinsAG (p.Pro242=) | |
15 | g.74896220G>A | CA7662532 | MPI | c.739G>A (p.Gly247Ser) c.556G>A (p.Gly186Ser) c.589G>A (p.Gly197Ser) c.679G>A (p.Gly227Ser) c.256-1319G>A (n.256-1319G>A) c.406G>A (p.Gly136Ser) n.787G>A c.517G>A (p.Gly173Ser) c.727G>A (p.Gly243Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896220G>C | CA393175905 | MPI | c.739G>C (p.Gly247Arg) c.556G>C (p.Gly186Arg) c.589G>C (p.Gly197Arg) c.679G>C (p.Gly227Arg) c.256-1319G>C (n.256-1319G>C) c.406G>C (p.Gly136Arg) n.787G>C c.517G>C (p.Gly173Arg) c.727G>C (p.Gly243Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896220G= | CA2187901806 | MPI | c.739G= (p.Gly247=) c.556G= (p.Gly186=) c.589G= (p.Gly197=) c.679G= (p.Gly227=) c.256-1319G= (n.256-1319G=) c.406G= (p.Gly136=) n.787G= c.517G= (p.Gly173=) c.727G= (p.Gly243=) | |
15 | g.74896220G>T | CA393175906 | MPI | c.739G>T (p.Gly247Cys) c.556G>T (p.Gly186Cys) c.589G>T (p.Gly197Cys) c.679G>T (p.Gly227Cys) c.256-1319G>T (n.256-1319G>T) c.406G>T (p.Gly136Cys) n.787G>T c.517G>T (p.Gly173Cys) c.727G>T (p.Gly243Cys) | |
15 | g.74896221del | CA16041750 | MPI | c.740del (p.Gly247ValfsTer11) c.557del (p.Gly186ValfsTer11) c.590del (p.Gly197ValfsTer11) c.680del (p.Gly227ValfsTer11) c.256-1318del (n.256-1318del) c.407del (p.Gly136ValfsTer11) n.788del c.518del (p.Gly173ValfsTer11) c.728del (p.Gly243ValfsTer11) | ClinVar dbSNP |
15 | g.74896221G>A | CA393175907 | MPI | c.740G>A (p.Gly247Asp) c.557G>A (p.Gly186Asp) c.590G>A (p.Gly197Asp) c.680G>A (p.Gly227Asp) c.256-1318G>A (n.256-1318G>A) c.407G>A (p.Gly136Asp) n.788G>A c.518G>A (p.Gly173Asp) c.728G>A (p.Gly243Asp) | gnomAD v4 |
15 | g.74896221G>C | CA393175908 | MPI | c.740G>C (p.Gly247Ala) c.557G>C (p.Gly186Ala) c.590G>C (p.Gly197Ala) c.680G>C (p.Gly227Ala) c.256-1318G>C (n.256-1318G>C) c.407G>C (p.Gly136Ala) n.788G>C c.518G>C (p.Gly173Ala) c.728G>C (p.Gly243Ala) | |
15 | g.74896221G>T | CA393175909 | MPI | c.740G>T (p.Gly247Val) c.557G>T (p.Gly186Val) c.590G>T (p.Gly197Val) c.680G>T (p.Gly227Val) c.256-1318G>T (n.256-1318G>T) c.407G>T (p.Gly136Val) n.788G>T c.518G>T (p.Gly173Val) c.728G>T (p.Gly243Val) | |
15 | g.74896222T>A | CA7662533 | MPI | c.741T>A (p.Gly247=) c.558T>A (p.Gly186=) c.591T>A (p.Gly197=) c.681T>A (p.Gly227=) c.256-1317T>A (n.256-1317T>A) c.408T>A (p.Gly136=) n.789T>A c.519T>A (p.Gly173=) c.729T>A (p.Gly243=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896222T>C | CA491491398 | MPI | c.741T>C (p.Gly247=) c.558T>C (p.Gly186=) c.591T>C (p.Gly197=) c.681T>C (p.Gly227=) c.256-1317T>C (n.256-1317T>C) c.408T>C (p.Gly136=) n.789T>C c.519T>C (p.Gly173=) c.729T>C (p.Gly243=) | gnomAD v4 |
15 | g.74896222T>G | CA491491399 | MPI | c.741T>G (p.Gly247=) c.558T>G (p.Gly186=) c.591T>G (p.Gly197=) c.681T>G (p.Gly227=) c.256-1317T>G (n.256-1317T>G) c.408T>G (p.Gly136=) n.789T>G c.519T>G (p.Gly173=) c.729T>G (p.Gly243=) | |
15 | g.74896222T= | CA2187901810 | MPI | c.741T= (p.Gly247=) c.558T= (p.Gly186=) c.591T= (p.Gly197=) c.681T= (p.Gly227=) c.256-1317T= (n.256-1317T=) c.408T= (p.Gly136=) n.789T= c.519T= (p.Gly173=) c.729T= (p.Gly243=) | |
15 | g.74896223G>A | CA393175910 | MPI | c.742G>A (p.Asp248Asn) c.559G>A (p.Asp187Asn) c.592G>A (p.Asp198Asn) c.682G>A (p.Asp228Asn) c.256-1316G>A (n.256-1316G>A) c.409G>A (p.Asp137Asn) n.790G>A c.520G>A (p.Asp174Asn) c.730G>A (p.Asp244Asn) | |
15 | g.74896223G>C | CA393175911 | MPI | c.742G>C (p.Asp248His) c.559G>C (p.Asp187His) c.592G>C (p.Asp198His) c.682G>C (p.Asp228His) c.256-1316G>C (n.256-1316G>C) c.409G>C (p.Asp137His) n.790G>C c.520G>C (p.Asp174His) c.730G>C (p.Asp244His) | |
15 | g.74896223G>T | CA393175912 | MPI | c.742G>T (p.Asp248Tyr) c.559G>T (p.Asp187Tyr) c.592G>T (p.Asp198Tyr) c.682G>T (p.Asp228Tyr) c.256-1316G>T (n.256-1316G>T) c.409G>T (p.Asp137Tyr) n.790G>T c.520G>T (p.Asp174Tyr) c.730G>T (p.Asp244Tyr) | |
15 | g.74896224A>C | CA393175913 | MPI | c.743A>C (p.Asp248Ala) c.560A>C (p.Asp187Ala) c.593A>C (p.Asp198Ala) c.683A>C (p.Asp228Ala) c.256-1315A>C (n.256-1315A>C) c.410A>C (p.Asp137Ala) n.791A>C c.521A>C (p.Asp174Ala) c.731A>C (p.Asp244Ala) | |
15 | g.74896224A>G | CA393175914 | MPI | c.743A>G (p.Asp248Gly) c.560A>G (p.Asp187Gly) c.593A>G (p.Asp198Gly) c.683A>G (p.Asp228Gly) c.256-1315A>G (n.256-1315A>G) c.410A>G (p.Asp137Gly) n.791A>G c.521A>G (p.Asp174Gly) c.731A>G (p.Asp244Gly) | gnomAD v4 |
15 | g.74896224A>T | CA393175915 | MPI | c.743A>T (p.Asp248Val) c.560A>T (p.Asp187Val) c.593A>T (p.Asp198Val) c.683A>T (p.Asp228Val) c.256-1315A>T (n.256-1315A>T) c.410A>T (p.Asp137Val) n.791A>T c.521A>T (p.Asp174Val) c.731A>T (p.Asp244Val) | |
15 | g.74896225T>A | CA393175917 | MPI | c.744T>A (p.Asp248Glu) c.561T>A (p.Asp187Glu) c.594T>A (p.Asp198Glu) c.684T>A (p.Asp228Glu) c.256-1314T>A (n.256-1314T>A) c.411T>A (p.Asp137Glu) n.792T>A c.522T>A (p.Asp174Glu) c.732T>A (p.Asp244Glu) | |
15 | g.74896225T>C | CA491491400 | MPI | c.744T>C (p.Asp248=) c.561T>C (p.Asp187=) c.594T>C (p.Asp198=) c.684T>C (p.Asp228=) c.256-1314T>C (n.256-1314T>C) c.411T>C (p.Asp137=) n.792T>C c.522T>C (p.Asp174=) c.732T>C (p.Asp244=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896225T>G | CA393175916 | MPI | c.744T>G (p.Asp248Glu) c.561T>G (p.Asp187Glu) c.594T>G (p.Asp198Glu) c.684T>G (p.Asp228Glu) c.256-1314T>G (n.256-1314T>G) c.411T>G (p.Asp137Glu) n.792T>G c.522T>G (p.Asp174Glu) c.732T>G (p.Asp244Glu) | |
15 | g.74896226A= | CA2187901815 | MPI | c.745A= (p.Ile249=) c.562A= (p.Ile188=) c.595A= (p.Ile199=) c.685A= (p.Ile229=) c.256-1313A= (n.256-1313A=) c.412A= (p.Ile138=) n.793A= c.523A= (p.Ile175=) c.733A= (p.Ile245=) | |
15 | g.74896226A>C | CA393175918 | MPI | c.745A>C (p.Ile249Leu) c.562A>C (p.Ile188Leu) c.595A>C (p.Ile199Leu) c.685A>C (p.Ile229Leu) c.256-1313A>C (n.256-1313A>C) c.412A>C (p.Ile138Leu) n.793A>C c.523A>C (p.Ile175Leu) c.733A>C (p.Ile245Leu) | |
15 | g.74896226A>G | CA393175919 | MPI | c.745A>G (p.Ile249Val) c.562A>G (p.Ile188Val) c.595A>G (p.Ile199Val) c.685A>G (p.Ile229Val) c.256-1313A>G (n.256-1313A>G) c.412A>G (p.Ile138Val) n.793A>G c.523A>G (p.Ile175Val) c.733A>G (p.Ile245Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896226A>T | CA393175920 | MPI | c.745A>T (p.Ile249Phe) c.562A>T (p.Ile188Phe) c.595A>T (p.Ile199Phe) c.685A>T (p.Ile229Phe) c.256-1313A>T (n.256-1313A>T) c.412A>T (p.Ile138Phe) n.793A>T c.523A>T (p.Ile175Phe) c.733A>T (p.Ile245Phe) | |
15 | g.74896226dup | CA2573151156 | MPI | c.745dup (p.Ile249AsnfsTer?) c.562dup (p.Ile188AsnfsTer?) c.595dup (p.Ile199AsnfsTer?) c.685dup (p.Ile229AsnfsTer?) c.256-1313dup (n.256-1313dup) c.412dup (p.Ile138AsnfsTer?) n.793dup c.523dup (p.Ile175AsnfsTer?) c.733dup (p.Ile245AsnfsTer?) | ClinVar dbSNP |
15 | g.74896227T>A | CA7662534 | MPI | c.746T>A (p.Ile249Asn) c.563T>A (p.Ile188Asn) c.596T>A (p.Ile199Asn) c.686T>A (p.Ile229Asn) c.256-1312T>A (n.256-1312T>A) c.413T>A (p.Ile138Asn) n.794T>A c.524T>A (p.Ile175Asn) c.734T>A (p.Ile245Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896227T>C | CA393175921 | MPI | c.746T>C (p.Ile249Thr) c.563T>C (p.Ile188Thr) c.596T>C (p.Ile199Thr) c.686T>C (p.Ile229Thr) c.256-1312T>C (n.256-1312T>C) c.413T>C (p.Ile138Thr) n.794T>C c.524T>C (p.Ile175Thr) c.734T>C (p.Ile245Thr) | ClinVar dbSNP gnomAD v4 |
15 | g.74896227T>G | CA393175922 | MPI | c.746T>G (p.Ile249Ser) c.563T>G (p.Ile188Ser) c.596T>G (p.Ile199Ser) c.686T>G (p.Ile229Ser) c.256-1312T>G (n.256-1312T>G) c.413T>G (p.Ile138Ser) n.794T>G c.524T>G (p.Ile175Ser) c.734T>G (p.Ile245Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896227T= | CA2187901818 | MPI | c.746T= (p.Ile249=) c.563T= (p.Ile188=) c.596T= (p.Ile199=) c.686T= (p.Ile229=) c.256-1312T= (n.256-1312T=) c.413T= (p.Ile138=) n.794T= c.524T= (p.Ile175=) c.734T= (p.Ile245=) | |
15 | g.74896228C>A | CA491491401 | MPI | c.747C>A (p.Ile249=) c.564C>A (p.Ile188=) c.597C>A (p.Ile199=) c.687C>A (p.Ile229=) c.256-1311C>A (n.256-1311C>A) c.414C>A (p.Ile138=) n.795C>A c.525C>A (p.Ile175=) c.735C>A (p.Ile245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896228C= | CA2187901822 | MPI | c.747C= (p.Ile249=) c.564C= (p.Ile188=) c.597C= (p.Ile199=) c.687C= (p.Ile229=) c.256-1311C= (n.256-1311C=) c.414C= (p.Ile138=) n.795C= c.525C= (p.Ile175=) c.735C= (p.Ile245=) | |
15 | g.74896228C>G | CA393175923 | MPI | c.747C>G (p.Ile249Met) c.564C>G (p.Ile188Met) c.597C>G (p.Ile199Met) c.687C>G (p.Ile229Met) c.256-1311C>G (n.256-1311C>G) c.414C>G (p.Ile138Met) n.795C>G c.525C>G (p.Ile175Met) c.735C>G (p.Ile245Met) | |
15 | g.74896228C>T | CA7662535 | MPI | c.747C>T (p.Ile249=) c.564C>T (p.Ile188=) c.597C>T (p.Ile199=) c.687C>T (p.Ile229=) c.256-1311C>T (n.256-1311C>T) c.414C>T (p.Ile138=) n.795C>T c.525C>T (p.Ile175=) c.735C>T (p.Ile245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896229G>A | CA7662536 | MPI | c.748G>A (p.Gly250Ser) c.565G>A (p.Gly189Ser) c.598G>A (p.Gly200Ser) c.688G>A (p.Gly230Ser) c.256-1310G>A (n.256-1310G>A) c.415G>A (p.Gly139Ser) n.796G>A c.526G>A (p.Gly176Ser) c.736G>A (p.Gly246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896229G>C | CA393175924 | MPI | c.748G>C (p.Gly250Arg) c.565G>C (p.Gly189Arg) c.598G>C (p.Gly200Arg) c.688G>C (p.Gly230Arg) c.256-1310G>C (n.256-1310G>C) c.415G>C (p.Gly139Arg) n.796G>C c.526G>C (p.Gly176Arg) c.736G>C (p.Gly246Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896229G= | CA2187901825 | MPI | c.748G= (p.Gly250=) c.565G= (p.Gly189=) c.598G= (p.Gly200=) c.688G= (p.Gly230=) c.256-1310G= (n.256-1310G=) c.415G= (p.Gly139=) n.796G= c.526G= (p.Gly176=) c.736G= (p.Gly246=) | |
15 | g.74896229G>T | CA393175925 | MPI | c.748G>T (p.Gly250Cys) c.565G>T (p.Gly189Cys) c.598G>T (p.Gly200Cys) c.688G>T (p.Gly230Cys) c.256-1310G>T (n.256-1310G>T) c.415G>T (p.Gly139Cys) n.796G>T c.526G>T (p.Gly176Cys) c.736G>T (p.Gly246Cys) | |
15 | g.74896230G>A | CA393175927 | MPI | c.749G>A (p.Gly250Asp) c.566G>A (p.Gly189Asp) c.599G>A (p.Gly200Asp) c.689G>A (p.Gly230Asp) c.256-1309G>A (n.256-1309G>A) c.416G>A (p.Gly139Asp) n.797G>A c.527G>A (p.Gly176Asp) c.737G>A (p.Gly246Asp) | dbSNP |
15 | g.74896230G>C | CA393175928 | MPI | c.749G>C (p.Gly250Ala) c.566G>C (p.Gly189Ala) c.599G>C (p.Gly200Ala) c.689G>C (p.Gly230Ala) c.256-1309G>C (n.256-1309G>C) c.416G>C (p.Gly139Ala) n.797G>C c.527G>C (p.Gly176Ala) c.737G>C (p.Gly246Ala) | |
15 | g.74896230G= | CA2187901829 | MPI | c.749G= (p.Gly250=) c.566G= (p.Gly189=) c.599G= (p.Gly200=) c.689G= (p.Gly230=) c.256-1309G= (n.256-1309G=) c.416G= (p.Gly139=) n.797G= c.527G= (p.Gly176=) c.737G= (p.Gly246=) | |
15 | g.74896230G>T | CA393175926 | MPI | c.749G>T (p.Gly250Val) c.566G>T (p.Gly189Val) c.599G>T (p.Gly200Val) c.689G>T (p.Gly230Val) c.256-1309G>T (n.256-1309G>T) c.416G>T (p.Gly139Val) n.797G>T c.527G>T (p.Gly176Val) c.737G>T (p.Gly246Val) | |
15 | g.74896231C>A | CA491491402 | MPI | c.750C>A (p.Gly250=) c.567C>A (p.Gly189=) c.600C>A (p.Gly200=) c.690C>A (p.Gly230=) c.256-1308C>A (n.256-1308C>A) c.417C>A (p.Gly139=) n.798C>A c.528C>A (p.Gly176=) c.738C>A (p.Gly246=) | |
15 | g.74896231C= | CA2187901832 | MPI | c.750C= (p.Gly250=) c.567C= (p.Gly189=) c.600C= (p.Gly200=) c.690C= (p.Gly230=) c.256-1308C= (n.256-1308C=) c.417C= (p.Gly139=) n.798C= c.528C= (p.Gly176=) c.738C= (p.Gly246=) | |
15 | g.74896231C>G | CA491491404 | MPI | c.750C>G (p.Gly250=) c.567C>G (p.Gly189=) c.600C>G (p.Gly200=) c.690C>G (p.Gly230=) c.256-1308C>G (n.256-1308C>G) c.417C>G (p.Gly139=) n.798C>G c.528C>G (p.Gly176=) c.738C>G (p.Gly246=) | |
15 | g.74896231C>T | CA491491403 | MPI | c.750C>T (p.Gly250=) c.567C>T (p.Gly189=) c.600C>T (p.Gly200=) c.690C>T (p.Gly230=) c.256-1308C>T (n.256-1308C>T) c.417C>T (p.Gly139=) n.798C>T c.528C>T (p.Gly176=) c.738C>T (p.Gly246=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896232del | CA2739269589 | MPI | c.751del (p.Cys251AlafsTer7) c.568del (p.Cys190AlafsTer7) c.601del (p.Cys201AlafsTer7) c.691del (p.Cys231AlafsTer7) c.256-1307del (n.256-1307del) c.418del (p.Cys140AlafsTer7) n.799del c.529del (p.Cys177AlafsTer7) c.739del (p.Cys247AlafsTer7) | ClinVar |
15 | g.74896232T>A | CA393175929 | MPI | c.751T>A (p.Cys251Ser) c.568T>A (p.Cys190Ser) c.601T>A (p.Cys201Ser) c.691T>A (p.Cys231Ser) c.256-1307T>A (n.256-1307T>A) c.418T>A (p.Cys140Ser) n.799T>A c.529T>A (p.Cys177Ser) c.739T>A (p.Cys247Ser) | |
15 | g.74896232T>C | CA393175930 | MPI | c.751T>C (p.Cys251Arg) c.568T>C (p.Cys190Arg) c.601T>C (p.Cys201Arg) c.691T>C (p.Cys231Arg) c.256-1307T>C (n.256-1307T>C) c.418T>C (p.Cys140Arg) n.799T>C c.529T>C (p.Cys177Arg) c.739T>C (p.Cys247Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896232T>G | CA393175931 | MPI | c.751T>G (p.Cys251Gly) c.568T>G (p.Cys190Gly) c.601T>G (p.Cys201Gly) c.691T>G (p.Cys231Gly) c.256-1307T>G (n.256-1307T>G) c.418T>G (p.Cys140Gly) n.799T>G c.529T>G (p.Cys177Gly) c.739T>G (p.Cys247Gly) | |
15 | g.74896232T= | CA2187901834 | MPI | c.751T= (p.Cys251=) c.568T= (p.Cys190=) c.601T= (p.Cys201=) c.691T= (p.Cys231=) c.256-1307T= (n.256-1307T=) c.418T= (p.Cys140=) n.799T= c.529T= (p.Cys177=) c.739T= (p.Cys247=) | |
15 | g.74896233G>A | CA393175932 | MPI | c.752G>A (p.Cys251Tyr) c.569G>A (p.Cys190Tyr) c.602G>A (p.Cys201Tyr) c.692G>A (p.Cys231Tyr) c.256-1306G>A (n.256-1306G>A) c.419G>A (p.Cys140Tyr) n.800G>A c.530G>A (p.Cys177Tyr) c.740G>A (p.Cys247Tyr) | COSMIC |
15 | g.74896233G>C | CA393175933 | MPI | c.752G>C (p.Cys251Ser) c.569G>C (p.Cys190Ser) c.602G>C (p.Cys201Ser) c.692G>C (p.Cys231Ser) c.256-1306G>C (n.256-1306G>C) c.419G>C (p.Cys140Ser) n.800G>C c.530G>C (p.Cys177Ser) c.740G>C (p.Cys247Ser) | |
15 | g.74896233G>T | CA393175934 | MPI | c.752G>T (p.Cys251Phe) c.569G>T (p.Cys190Phe) c.602G>T (p.Cys201Phe) c.692G>T (p.Cys231Phe) c.256-1306G>T (n.256-1306G>T) c.419G>T (p.Cys140Phe) n.800G>T c.530G>T (p.Cys177Phe) c.740G>T (p.Cys247Phe) | |
15 | g.74896234del | CA2573151157 | MPI | c.753del (p.Phe252LeufsTer6) c.570del (p.Phe191LeufsTer6) c.603del (p.Phe202LeufsTer6) c.693del (p.Phe232LeufsTer6) c.256-1305del (n.256-1305del) c.420del (p.Phe141LeufsTer6) n.801del c.531del (p.Phe178LeufsTer6) c.741del (p.Phe248LeufsTer6) | ClinVar dbSNP |
15 | g.74896234C>A | CA393175935 | MPI | c.753C>A (p.Cys251Ter) c.570C>A (p.Cys190Ter) c.603C>A (p.Cys201Ter) c.693C>A (p.Cys231Ter) c.256-1305C>A (n.256-1305C>A) c.420C>A (p.Cys140Ter) n.801C>A c.531C>A (p.Cys177Ter) c.741C>A (p.Cys247Ter) | |
15 | g.74896234C= | CA2187901837 | MPI | c.753C= (p.Cys251=) c.570C= (p.Cys190=) c.603C= (p.Cys201=) c.693C= (p.Cys231=) c.256-1305C= (n.256-1305C=) c.420C= (p.Cys140=) n.801C= c.531C= (p.Cys177=) c.741C= (p.Cys247=) | |
15 | g.74896234C>G | CA7662537 | MPI | c.753C>G (p.Cys251Trp) c.570C>G (p.Cys190Trp) c.603C>G (p.Cys201Trp) c.693C>G (p.Cys231Trp) c.256-1305C>G (n.256-1305C>G) c.420C>G (p.Cys140Trp) n.801C>G c.531C>G (p.Cys177Trp) c.741C>G (p.Cys247Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896234C>T | CA491491405 | MPI | c.753C>T (p.Cys251=) c.570C>T (p.Cys190=) c.603C>T (p.Cys201=) c.693C>T (p.Cys231=) c.256-1305C>T (n.256-1305C>T) c.420C>T (p.Cys140=) n.801C>T c.531C>T (p.Cys177=) c.741C>T (p.Cys247=) | |
15 | g.74896235T>A | CA7662539 | MPI | c.754T>A (p.Phe252Ile) c.571T>A (p.Phe191Ile) c.604T>A (p.Phe202Ile) c.694T>A (p.Phe232Ile) c.256-1304T>A (n.256-1304T>A) c.421T>A (p.Phe141Ile) n.802T>A c.532T>A (p.Phe178Ile) c.742T>A (p.Phe248Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896235T>C | CA393175936 | MPI | c.754T>C (p.Phe252Leu) c.571T>C (p.Phe191Leu) c.604T>C (p.Phe202Leu) c.694T>C (p.Phe232Leu) c.256-1304T>C (n.256-1304T>C) c.421T>C (p.Phe141Leu) n.802T>C c.532T>C (p.Phe178Leu) c.742T>C (p.Phe248Leu) | |
15 | g.74896235T>G | CA7662538 | MPI | c.754T>G (p.Phe252Val) c.571T>G (p.Phe191Val) c.604T>G (p.Phe202Val) c.694T>G (p.Phe232Val) c.256-1304T>G (n.256-1304T>G) c.421T>G (p.Phe141Val) n.802T>G c.532T>G (p.Phe178Val) c.742T>G (p.Phe248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896235T= | CA2187901843 | MPI | c.754T= (p.Phe252=) c.571T= (p.Phe191=) c.604T= (p.Phe202=) c.694T= (p.Phe232=) c.256-1304T= (n.256-1304T=) c.421T= (p.Phe141=) n.802T= c.532T= (p.Phe178=) c.742T= (p.Phe248=) | |
15 | g.74896236T>A | CA393175938 | MPI | c.755T>A (p.Phe252Tyr) c.572T>A (p.Phe191Tyr) c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.256-1303T>A (n.256-1303T>A) c.422T>A (p.Phe141Tyr) n.803T>A c.533T>A (p.Phe178Tyr) c.743T>A (p.Phe248Tyr) | |
15 | g.74896236T>C | CA393175939 | MPI | c.755T>C (p.Phe252Ser) c.572T>C (p.Phe191Ser) c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.256-1303T>C (n.256-1303T>C) c.422T>C (p.Phe141Ser) n.803T>C c.533T>C (p.Phe178Ser) c.743T>C (p.Phe248Ser) | |
15 | g.74896236T>G | CA393175937 | MPI | c.755T>G (p.Phe252Cys) c.572T>G (p.Phe191Cys) c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.256-1303T>G (n.256-1303T>G) c.422T>G (p.Phe141Cys) n.803T>G c.533T>G (p.Phe178Cys) c.743T>G (p.Phe248Cys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896236T= | CA2187901847 | MPI | c.755T= (p.Phe252=) c.572T= (p.Phe191=) c.605T= (p.Phe202=) c.695T= (p.Phe232=) c.256-1303T= (n.256-1303T=) c.422T= (p.Phe141=) n.803T= c.533T= (p.Phe178=) c.743T= (p.Phe248=) | |
15 | g.74896237T>A | CA393175940 | MPI | c.756T>A (p.Phe252Leu) c.573T>A (p.Phe191Leu) c.606T>A (p.Phe202Leu) c.696T>A (p.Phe232Leu) c.256-1302T>A (n.256-1302T>A) c.423T>A (p.Phe141Leu) n.804T>A c.534T>A (p.Phe178Leu) c.744T>A (p.Phe248Leu) | |
15 | g.74896237T>C | CA491491406 | MPI | c.756T>C (p.Phe252=) c.573T>C (p.Phe191=) c.606T>C (p.Phe202=) c.696T>C (p.Phe232=) c.256-1302T>C (n.256-1302T>C) c.423T>C (p.Phe141=) n.804T>C c.534T>C (p.Phe178=) c.744T>C (p.Phe248=) | gnomAD v4 |
15 | g.74896237T>G | CA393175941 | MPI | c.756T>G (p.Phe252Leu) c.573T>G (p.Phe191Leu) c.606T>G (p.Phe202Leu) c.696T>G (p.Phe232Leu) c.256-1302T>G (n.256-1302T>G) c.423T>G (p.Phe141Leu) n.804T>G c.534T>G (p.Phe178Leu) c.744T>G (p.Phe248Leu) | |
15 | g.74896238G>A | CA393175942 | MPI | c.757G>A (p.Ala253Thr) c.574G>A (p.Ala192Thr) c.607G>A (p.Ala203Thr) c.697G>A (p.Ala233Thr) c.256-1301G>A (n.256-1301G>A) c.424G>A (p.Ala142Thr) n.805G>A c.535G>A (p.Ala179Thr) c.745G>A (p.Ala249Thr) | |
15 | g.74896238G>C | CA393175943 | MPI | c.757G>C (p.Ala253Pro) c.574G>C (p.Ala192Pro) c.607G>C (p.Ala203Pro) c.697G>C (p.Ala233Pro) c.256-1301G>C (n.256-1301G>C) c.424G>C (p.Ala142Pro) n.805G>C c.535G>C (p.Ala179Pro) c.745G>C (p.Ala249Pro) | |
15 | g.74896238G>T | CA393175944 | MPI | c.757G>T (p.Ala253Ser) c.574G>T (p.Ala192Ser) c.607G>T (p.Ala203Ser) c.697G>T (p.Ala233Ser) c.256-1301G>T (n.256-1301G>T) c.424G>T (p.Ala142Ser) n.805G>T c.535G>T (p.Ala179Ser) c.745G>T (p.Ala249Ser) | |
15 | g.74896239C>A | CA7662540 | MPI | c.758C>A (p.Ala253Asp) c.575C>A (p.Ala192Asp) c.608C>A (p.Ala203Asp) c.698C>A (p.Ala233Asp) c.256-1300C>A (n.256-1300C>A) c.425C>A (p.Ala142Asp) n.806C>A c.536C>A (p.Ala179Asp) c.746C>A (p.Ala249Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896239C= | CA2187901849 | MPI | c.758C= (p.Ala253=) c.575C= (p.Ala192=) c.608C= (p.Ala203=) c.698C= (p.Ala233=) c.256-1300C= (n.256-1300C=) c.425C= (p.Ala142=) n.806C= c.536C= (p.Ala179=) c.746C= (p.Ala249=) | |
15 | g.74896239C>G | CA393175945 | MPI | c.758C>G (p.Ala253Gly) c.575C>G (p.Ala192Gly) c.608C>G (p.Ala203Gly) c.698C>G (p.Ala233Gly) c.256-1300C>G (n.256-1300C>G) c.425C>G (p.Ala142Gly) n.806C>G c.536C>G (p.Ala179Gly) c.746C>G (p.Ala249Gly) | |
15 | g.74896239C>T | CA393175946 | MPI | c.758C>T (p.Ala253Val) c.575C>T (p.Ala192Val) c.608C>T (p.Ala203Val) c.698C>T (p.Ala233Val) c.256-1300C>T (n.256-1300C>T) c.425C>T (p.Ala142Val) n.806C>T c.536C>T (p.Ala179Val) c.746C>T (p.Ala249Val) | gnomAD v4 |
15 | g.74896240C>A | CA491491407 | MPI | c.759C>A (p.Ala253=) c.576C>A (p.Ala192=) c.609C>A (p.Ala203=) c.699C>A (p.Ala233=) c.256-1299C>A (n.256-1299C>A) c.426C>A (p.Ala142=) n.807C>A c.537C>A (p.Ala179=) c.747C>A (p.Ala249=) | |
15 | g.74896240C>G | CA491491408 | MPI | c.759C>G (p.Ala253=) c.576C>G (p.Ala192=) c.609C>G (p.Ala203=) c.699C>G (p.Ala233=) c.256-1299C>G (n.256-1299C>G) c.426C>G (p.Ala142=) n.807C>G c.537C>G (p.Ala179=) c.747C>G (p.Ala249=) | |
15 | g.74896240C>T | CA491491409 | MPI | c.759C>T (p.Ala253=) c.576C>T (p.Ala192=) c.609C>T (p.Ala203=) c.699C>T (p.Ala233=) c.256-1299C>T (n.256-1299C>T) c.426C>T (p.Ala142=) n.807C>T c.537C>T (p.Ala179=) c.747C>T (p.Ala249=) | |
15 | g.74896241A>C | CA393175947 | MPI | c.760A>C (p.Ile254Leu) c.577A>C (p.Ile193Leu) c.610A>C (p.Ile204Leu) c.700A>C (p.Ile234Leu) c.256-1298A>C (n.256-1298A>C) c.427A>C (p.Ile143Leu) n.808A>C c.538A>C (p.Ile180Leu) c.748A>C (p.Ile250Leu) | |
15 | g.74896241A>G | CA393175948 | MPI | c.760A>G (p.Ile254Val) c.577A>G (p.Ile193Val) c.610A>G (p.Ile204Val) c.700A>G (p.Ile234Val) c.256-1298A>G (n.256-1298A>G) c.427A>G (p.Ile143Val) n.808A>G c.538A>G (p.Ile180Val) c.748A>G (p.Ile250Val) | gnomAD v4 |
15 | g.74896241A>T | CA393175949 | MPI | c.760A>T (p.Ile254Phe) c.577A>T (p.Ile193Phe) c.610A>T (p.Ile204Phe) c.700A>T (p.Ile234Phe) c.256-1298A>T (n.256-1298A>T) c.427A>T (p.Ile143Phe) n.808A>T c.538A>T (p.Ile180Phe) c.748A>T (p.Ile250Phe) | |
15 | g.74896242T>A | CA393175950 | MPI | c.761T>A (p.Ile254Asn) c.578T>A (p.Ile193Asn) c.611T>A (p.Ile204Asn) c.701T>A (p.Ile234Asn) c.256-1297T>A (n.256-1297T>A) c.428T>A (p.Ile143Asn) n.809T>A c.539T>A (p.Ile180Asn) c.749T>A (p.Ile250Asn) | |
15 | g.74896242T>C | CA393175951 | MPI | c.761T>C (p.Ile254Thr) c.578T>C (p.Ile193Thr) c.611T>C (p.Ile204Thr) c.701T>C (p.Ile234Thr) c.256-1297T>C (n.256-1297T>C) c.428T>C (p.Ile143Thr) n.809T>C c.539T>C (p.Ile180Thr) c.749T>C (p.Ile250Thr) | gnomAD v4 |
15 | g.74896242T>G | CA393175952 | MPI | c.761T>G (p.Ile254Ser) c.578T>G (p.Ile193Ser) c.611T>G (p.Ile204Ser) c.701T>G (p.Ile234Ser) c.256-1297T>G (n.256-1297T>G) c.428T>G (p.Ile143Ser) n.809T>G c.539T>G (p.Ile180Ser) c.749T>G (p.Ile250Ser) | |
15 | g.74896243C>A | CA491491410 | MPI | c.762C>A (p.Ile254=) c.579C>A (p.Ile193=) c.612C>A (p.Ile204=) c.702C>A (p.Ile234=) c.256-1296C>A (n.256-1296C>A) c.429C>A (p.Ile143=) n.810C>A c.540C>A (p.Ile180=) c.750C>A (p.Ile250=) | |
15 | g.74896243C= | CA2187901854 | MPI | c.762C= (p.Ile254=) c.579C= (p.Ile193=) c.612C= (p.Ile204=) c.702C= (p.Ile234=) c.256-1296C= (n.256-1296C=) c.429C= (p.Ile143=) n.810C= c.540C= (p.Ile180=) c.750C= (p.Ile250=) | |
15 | g.74896243C>G | CA393175953 | MPI | c.762C>G (p.Ile254Met) c.579C>G (p.Ile193Met) c.612C>G (p.Ile204Met) c.702C>G (p.Ile234Met) c.256-1296C>G (n.256-1296C>G) c.429C>G (p.Ile143Met) n.810C>G c.540C>G (p.Ile180Met) c.750C>G (p.Ile250Met) | |
15 | g.74896243C>T | CA147582 | MPI | c.762C>T (p.Ile254=) c.579C>T (p.Ile193=) c.612C>T (p.Ile204=) c.702C>T (p.Ile234=) c.256-1296C>T (n.256-1296C>T) c.429C>T (p.Ile143=) n.810C>T c.540C>T (p.Ile180=) c.750C>T (p.Ile250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896245_74896257del | CA2580089997 | MPI | c.764_776del (p.Tyr255CysfsTer4) c.581_593del (p.Tyr194CysfsTer4) c.614_626del (p.Tyr205CysfsTer4) c.704_716del (p.Tyr235CysfsTer4) c.256-1294_256-1282del (n.256-1294_256-1282del) c.431_443del (p.Tyr144CysfsTer4) n.812_824del c.542_554del (p.Tyr181CysfsTer4) c.752_764del (p.Tyr251CysfsTer4) | ClinVar |
15 | g.74896244T>A | CA393175954 | MPI | c.763T>A (p.Tyr255Asn) c.580T>A (p.Tyr194Asn) c.613T>A (p.Tyr205Asn) c.703T>A (p.Tyr235Asn) c.256-1295T>A (n.256-1295T>A) c.430T>A (p.Tyr144Asn) n.811T>A c.541T>A (p.Tyr181Asn) c.751T>A (p.Tyr251Asn) | |
15 | g.74896244T>C | CA393175956 | MPI | c.763T>C (p.Tyr255His) c.580T>C (p.Tyr194His) c.613T>C (p.Tyr205His) c.703T>C (p.Tyr235His) c.256-1295T>C (n.256-1295T>C) c.430T>C (p.Tyr144His) n.811T>C c.541T>C (p.Tyr181His) c.751T>C (p.Tyr251His) | |
15 | g.74896244T>G | CA393175955 | MPI | c.763T>G (p.Tyr255Asp) c.580T>G (p.Tyr194Asp) c.613T>G (p.Tyr205Asp) c.703T>G (p.Tyr235Asp) c.256-1295T>G (n.256-1295T>G) c.430T>G (p.Tyr144Asp) n.811T>G c.541T>G (p.Tyr181Asp) c.751T>G (p.Tyr251Asp) | |
15 | g.74896245A>C | CA393175957 | MPI | c.764A>C (p.Tyr255Ser) c.581A>C (p.Tyr194Ser) c.614A>C (p.Tyr205Ser) c.704A>C (p.Tyr235Ser) c.256-1294A>C (n.256-1294A>C) c.431A>C (p.Tyr144Ser) n.812A>C c.542A>C (p.Tyr181Ser) c.752A>C (p.Tyr251Ser) | |
15 | g.74896245A>G | CA393175958 | MPI | c.764A>G (p.Tyr255Cys) c.581A>G (p.Tyr194Cys) c.614A>G (p.Tyr205Cys) c.704A>G (p.Tyr235Cys) c.256-1294A>G (n.256-1294A>G) c.431A>G (p.Tyr144Cys) n.812A>G c.542A>G (p.Tyr181Cys) c.752A>G (p.Tyr251Cys) | ClinVar |
15 | g.74896245A>T | CA393175959 | MPI | c.764A>T (p.Tyr255Phe) c.581A>T (p.Tyr194Phe) c.614A>T (p.Tyr205Phe) c.704A>T (p.Tyr235Phe) c.256-1294A>T (n.256-1294A>T) c.431A>T (p.Tyr144Phe) n.812A>T c.542A>T (p.Tyr181Phe) c.752A>T (p.Tyr251Phe) | |
15 | g.74896246C>A | CA7662541 | MPI | c.765C>A (p.Tyr255Ter) c.582C>A (p.Tyr194Ter) c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.256-1293C>A (n.256-1293C>A) c.432C>A (p.Tyr144Ter) n.813C>A c.543C>A (p.Tyr181Ter) c.753C>A (p.Tyr251Ter) | dbSNP ExAC gnomAD v2 |
15 | g.74896246C= | CA2187901858 | MPI | c.765C= (p.Tyr255=) c.582C= (p.Tyr194=) c.615C= (p.Tyr205=) c.705C= (p.Tyr235=) c.256-1293C= (n.256-1293C=) c.432C= (p.Tyr144=) n.813C= c.543C= (p.Tyr181=) c.753C= (p.Tyr251=) | |
15 | g.74896246C>G | CA393175960 | MPI | c.765C>G (p.Tyr255Ter) c.582C>G (p.Tyr194Ter) c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.256-1293C>G (n.256-1293C>G) c.432C>G (p.Tyr144Ter) n.813C>G c.543C>G (p.Tyr181Ter) c.753C>G (p.Tyr251Ter) | |
15 | g.74896246C>T | CA491491411 | MPI | c.765C>T (p.Tyr255=) c.582C>T (p.Tyr194=) c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.256-1293C>T (n.256-1293C>T) c.432C>T (p.Tyr144=) n.813C>T c.543C>T (p.Tyr181=) c.753C>T (p.Tyr251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896247T>A | CA393175961 | MPI | c.766T>A (p.Phe256Ile) c.583T>A (p.Phe195Ile) c.616T>A (p.Phe206Ile) c.706T>A (p.Phe236Ile) c.256-1292T>A (n.256-1292T>A) c.433T>A (p.Phe145Ile) n.814T>A c.544T>A (p.Phe182Ile) c.754T>A (p.Phe252Ile) | |
15 | g.74896247T>C | CA393175962 | MPI | c.766T>C (p.Phe256Leu) c.583T>C (p.Phe195Leu) c.616T>C (p.Phe206Leu) c.706T>C (p.Phe236Leu) c.256-1292T>C (n.256-1292T>C) c.433T>C (p.Phe145Leu) n.814T>C c.544T>C (p.Phe182Leu) c.754T>C (p.Phe252Leu) | |
15 | g.74896247T>G | CA393175963 | MPI | c.766T>G (p.Phe256Val) c.583T>G (p.Phe195Val) c.616T>G (p.Phe206Val) c.706T>G (p.Phe236Val) c.256-1292T>G (n.256-1292T>G) c.433T>G (p.Phe145Val) n.814T>G c.544T>G (p.Phe182Val) c.754T>G (p.Phe252Val) | |
15 | g.74896248T>A | CA393175964 | MPI | c.767T>A (p.Phe256Tyr) c.584T>A (p.Phe195Tyr) c.617T>A (p.Phe206Tyr) c.707T>A (p.Phe236Tyr) c.256-1291T>A (n.256-1291T>A) c.434T>A (p.Phe145Tyr) n.815T>A c.545T>A (p.Phe182Tyr) c.755T>A (p.Phe252Tyr) | |
15 | g.74896248T>C | CA393175965 | MPI | c.767T>C (p.Phe256Ser) c.584T>C (p.Phe195Ser) c.617T>C (p.Phe206Ser) c.707T>C (p.Phe236Ser) c.256-1291T>C (n.256-1291T>C) c.434T>C (p.Phe145Ser) n.815T>C c.545T>C (p.Phe182Ser) c.755T>C (p.Phe252Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896248T>G | CA393175966 | MPI | c.767T>G (p.Phe256Cys) c.584T>G (p.Phe195Cys) c.617T>G (p.Phe206Cys) c.707T>G (p.Phe236Cys) c.256-1291T>G (n.256-1291T>G) c.434T>G (p.Phe145Cys) n.815T>G c.545T>G (p.Phe182Cys) c.755T>G (p.Phe252Cys) | |
15 | g.74896248T= | CA2187901861 | MPI | c.767T= (p.Phe256=) c.584T= (p.Phe195=) c.617T= (p.Phe206=) c.707T= (p.Phe236=) c.256-1291T= (n.256-1291T=) c.434T= (p.Phe145=) n.815T= c.545T= (p.Phe182=) c.755T= (p.Phe252=) | |
15 | g.74896249C>A | CA393175967 | MPI | c.768C>A (p.Phe256Leu) c.585C>A (p.Phe195Leu) c.618C>A (p.Phe206Leu) c.708C>A (p.Phe236Leu) c.256-1290C>A (n.256-1290C>A) c.435C>A (p.Phe145Leu) n.816C>A c.546C>A (p.Phe182Leu) c.756C>A (p.Phe252Leu) | |
15 | g.74896249C= | CA2187901864 | MPI | c.768C= (p.Phe256=) c.585C= (p.Phe195=) c.618C= (p.Phe206=) c.708C= (p.Phe236=) c.256-1290C= (n.256-1290C=) c.435C= (p.Phe145=) n.816C= c.546C= (p.Phe182=) c.756C= (p.Phe252=) | |
15 | g.74896249C>G | CA393175968 | MPI | c.768C>G (p.Phe256Leu) c.585C>G (p.Phe195Leu) c.618C>G (p.Phe206Leu) c.708C>G (p.Phe236Leu) c.256-1290C>G (n.256-1290C>G) c.435C>G (p.Phe145Leu) n.816C>G c.546C>G (p.Phe182Leu) c.756C>G (p.Phe252Leu) | |
15 | g.74896249C>T | CA491491412 | MPI | c.768C>T (p.Phe256=) c.585C>T (p.Phe195=) c.618C>T (p.Phe206=) c.708C>T (p.Phe236=) c.256-1290C>T (n.256-1290C>T) c.435C>T (p.Phe145=) n.816C>T c.546C>T (p.Phe182=) c.756C>T (p.Phe252=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896250C>A | CA393175969 | MPI | c.769C>A (p.Leu257Met) c.586C>A (p.Leu196Met) c.619C>A (p.Leu207Met) c.709C>A (p.Leu237Met) c.256-1289C>A (n.256-1289C>A) c.436C>A (p.Leu146Met) n.817C>A c.547C>A (p.Leu183Met) c.757C>A (p.Leu253Met) | |
15 | g.74896250C= | CA2187901871 | MPI | c.769C= (p.Leu257=) c.586C= (p.Leu196=) c.619C= (p.Leu207=) c.709C= (p.Leu237=) c.256-1289C= (n.256-1289C=) c.436C= (p.Leu146=) n.817C= c.547C= (p.Leu183=) c.757C= (p.Leu253=) | |
15 | g.74896250C>G | CA393175970 | MPI | c.769C>G (p.Leu257Val) c.586C>G (p.Leu196Val) c.619C>G (p.Leu207Val) c.709C>G (p.Leu237Val) c.256-1289C>G (n.256-1289C>G) c.436C>G (p.Leu146Val) n.817C>G c.547C>G (p.Leu183Val) c.757C>G (p.Leu253Val) | |
15 | g.74896250C>T | CA491491413 | MPI | c.769C>T (p.Leu257=) c.586C>T (p.Leu196=) c.619C>T (p.Leu207=) c.709C>T (p.Leu237=) c.256-1289C>T (n.256-1289C>T) c.436C>T (p.Leu146=) n.817C>T c.547C>T (p.Leu183=) c.757C>T (p.Leu253=) | ClinVar dbSNP |
15 | g.74896251T>A | CA393175971 | MPI | c.770T>A (p.Leu257Gln) c.587T>A (p.Leu196Gln) c.620T>A (p.Leu207Gln) c.710T>A (p.Leu237Gln) c.256-1288T>A (n.256-1288T>A) c.437T>A (p.Leu146Gln) n.818T>A c.548T>A (p.Leu183Gln) c.758T>A (p.Leu253Gln) | |
15 | g.74896251T>C | CA393175972 | MPI | c.770T>C (p.Leu257Pro) c.587T>C (p.Leu196Pro) c.620T>C (p.Leu207Pro) c.710T>C (p.Leu237Pro) c.256-1288T>C (n.256-1288T>C) c.437T>C (p.Leu146Pro) n.818T>C c.548T>C (p.Leu183Pro) c.758T>C (p.Leu253Pro) | gnomAD v4 |
15 | g.74896251T>G | CA393175973 | MPI | c.770T>G (p.Leu257Arg) c.587T>G (p.Leu196Arg) c.620T>G (p.Leu207Arg) c.710T>G (p.Leu237Arg) c.256-1288T>G (n.256-1288T>G) c.437T>G (p.Leu146Arg) n.818T>G c.548T>G (p.Leu183Arg) c.758T>G (p.Leu253Arg) | dbSNP |
15 | g.74896251T= | CA2187901876 | MPI | c.770T= (p.Leu257=) c.587T= (p.Leu196=) c.620T= (p.Leu207=) c.710T= (p.Leu237=) c.256-1288T= (n.256-1288T=) c.437T= (p.Leu146=) n.818T= c.548T= (p.Leu183=) c.758T= (p.Leu253=) | |
15 | g.74896252G>A | CA491491416 | MPI | c.771G>A (p.Leu257=) c.588G>A (p.Leu196=) c.621G>A (p.Leu207=) c.711G>A (p.Leu237=) c.256-1287G>A (n.256-1287G>A) c.438G>A (p.Leu146=) n.819G>A c.549G>A (p.Leu183=) c.759G>A (p.Leu253=) | ClinVar dbSNP |
15 | g.74896252G>C | CA491491415 | MPI | c.771G>C (p.Leu257=) c.588G>C (p.Leu196=) c.621G>C (p.Leu207=) c.711G>C (p.Leu237=) c.256-1287G>C (n.256-1287G>C) c.438G>C (p.Leu146=) n.819G>C c.549G>C (p.Leu183=) c.759G>C (p.Leu253=) | |
15 | g.74896252G>T | CA491491414 | MPI | c.771G>T (p.Leu257=) c.588G>T (p.Leu196=) c.621G>T (p.Leu207=) c.711G>T (p.Leu237=) c.256-1287G>T (n.256-1287G>T) c.438G>T (p.Leu146=) n.819G>T c.549G>T (p.Leu183=) c.759G>T (p.Leu253=) | |
15 | g.74896253A>C | CA393175974 | MPI | c.772A>C (p.Asn258His) c.589A>C (p.Asn197His) c.622A>C (p.Asn208His) c.712A>C (p.Asn238His) c.256-1286A>C (n.256-1286A>C) c.439A>C (p.Asn147His) n.820A>C c.550A>C (p.Asn184His) c.760A>C (p.Asn254His) | |
15 | g.74896253A>G | CA393175975 | MPI | c.772A>G (p.Asn258Asp) c.589A>G (p.Asn197Asp) c.622A>G (p.Asn208Asp) c.712A>G (p.Asn238Asp) c.256-1286A>G (n.256-1286A>G) c.439A>G (p.Asn147Asp) n.820A>G c.550A>G (p.Asn184Asp) c.760A>G (p.Asn254Asp) | |
15 | g.74896253A>T | CA393175976 | MPI | c.772A>T (p.Asn258Tyr) c.589A>T (p.Asn197Tyr) c.622A>T (p.Asn208Tyr) c.712A>T (p.Asn238Tyr) c.256-1286A>T (n.256-1286A>T) c.439A>T (p.Asn147Tyr) n.820A>T c.550A>T (p.Asn184Tyr) c.760A>T (p.Asn254Tyr) | |
15 | g.74896254A>C | CA393175977 | MPI | c.773A>C (p.Asn258Thr) c.590A>C (p.Asn197Thr) c.623A>C (p.Asn208Thr) c.713A>C (p.Asn238Thr) c.256-1285A>C (n.256-1285A>C) c.440A>C (p.Asn147Thr) n.821A>C c.551A>C (p.Asn184Thr) c.761A>C (p.Asn254Thr) | |
15 | g.74896254A>G | CA393175978 | MPI | c.773A>G (p.Asn258Ser) c.590A>G (p.Asn197Ser) c.623A>G (p.Asn208Ser) c.713A>G (p.Asn238Ser) c.256-1285A>G (n.256-1285A>G) c.440A>G (p.Asn147Ser) n.821A>G c.551A>G (p.Asn184Ser) c.761A>G (p.Asn254Ser) | COSMIC |
15 | g.74896254A>T | CA393175979 | MPI | c.773A>T (p.Asn258Ile) c.590A>T (p.Asn197Ile) c.623A>T (p.Asn208Ile) c.713A>T (p.Asn238Ile) c.256-1285A>T (n.256-1285A>T) c.440A>T (p.Asn147Ile) n.821A>T c.551A>T (p.Asn184Ile) c.761A>T (p.Asn254Ile) | gnomAD v4 |
15 | g.74896255C>A | CA393175980 | MPI | c.774C>A (p.Asn258Lys) c.591C>A (p.Asn197Lys) c.624C>A (p.Asn208Lys) c.714C>A (p.Asn238Lys) c.256-1284C>A (n.256-1284C>A) c.441C>A (p.Asn147Lys) n.822C>A c.552C>A (p.Asn184Lys) c.762C>A (p.Asn254Lys) | |
15 | g.74896255C= | CA2187901879 | MPI | c.774C= (p.Asn258=) c.591C= (p.Asn197=) c.624C= (p.Asn208=) c.714C= (p.Asn238=) c.256-1284C= (n.256-1284C=) c.441C= (p.Asn147=) n.822C= c.552C= (p.Asn184=) c.762C= (p.Asn254=) | |
15 | g.74896255C>G | CA393175981 | MPI | c.774C>G (p.Asn258Lys) c.591C>G (p.Asn197Lys) c.624C>G (p.Asn208Lys) c.714C>G (p.Asn238Lys) c.256-1284C>G (n.256-1284C>G) c.441C>G (p.Asn147Lys) n.822C>G c.552C>G (p.Asn184Lys) c.762C>G (p.Asn254Lys) | |
15 | g.74896255C>T | CA491491417 | MPI | c.774C>T (p.Asn258=) c.591C>T (p.Asn197=) c.624C>T (p.Asn208=) c.714C>T (p.Asn238=) c.256-1284C>T (n.256-1284C>T) c.441C>T (p.Asn147=) n.822C>T c.552C>T (p.Asn184=) c.762C>T (p.Asn254=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896256C>A | CA393175982 | MPI | c.775C>A (p.Leu259Met) c.592C>A (p.Leu198Met) c.625C>A (p.Leu209Met) c.715C>A (p.Leu239Met) c.256-1283C>A (n.256-1283C>A) c.442C>A (p.Leu148Met) n.823C>A c.553C>A (p.Leu185Met) c.763C>A (p.Leu255Met) | |
15 | g.74896256C>G | CA393175983 | MPI | c.775C>G (p.Leu259Val) c.592C>G (p.Leu198Val) c.625C>G (p.Leu209Val) c.715C>G (p.Leu239Val) c.256-1283C>G (n.256-1283C>G) c.442C>G (p.Leu148Val) n.823C>G c.553C>G (p.Leu185Val) c.763C>G (p.Leu255Val) | |
15 | g.74896256C>T | CA491491418 | MPI | c.775C>T (p.Leu259=) c.592C>T (p.Leu198=) c.625C>T (p.Leu209=) c.715C>T (p.Leu239=) c.256-1283C>T (n.256-1283C>T) c.442C>T (p.Leu148=) n.823C>T c.553C>T (p.Leu185=) c.763C>T (p.Leu255=) | ClinVar dbSNP |
15 | g.74896257T>A | CA393175984 | MPI | c.776T>A (p.Leu259Gln) c.593T>A (p.Leu198Gln) c.626T>A (p.Leu209Gln) c.716T>A (p.Leu239Gln) c.256-1282T>A (n.256-1282T>A) c.443T>A (p.Leu148Gln) n.824T>A c.554T>A (p.Leu185Gln) c.764T>A (p.Leu255Gln) | |
15 | g.74896257T>C | CA393175986 | MPI | c.776T>C (p.Leu259Pro) c.593T>C (p.Leu198Pro) c.626T>C (p.Leu209Pro) c.716T>C (p.Leu239Pro) c.256-1282T>C (n.256-1282T>C) c.443T>C (p.Leu148Pro) n.824T>C c.554T>C (p.Leu185Pro) c.764T>C (p.Leu255Pro) | gnomAD v4 |
15 | g.74896257T>G | CA393175985 | MPI | c.776T>G (p.Leu259Arg) c.593T>G (p.Leu198Arg) c.626T>G (p.Leu209Arg) c.716T>G (p.Leu239Arg) c.256-1282T>G (n.256-1282T>G) c.443T>G (p.Leu148Arg) n.824T>G c.554T>G (p.Leu185Arg) c.764T>G (p.Leu255Arg) | |
15 | g.74896258G>A | CA491491419 | MPI | c.777G>A (p.Leu259=) c.594G>A (p.Leu198=) c.627G>A (p.Leu209=) c.717G>A (p.Leu239=) c.256-1281G>A (n.256-1281G>A) c.444G>A (p.Leu148=) n.825G>A c.555G>A (p.Leu185=) c.765G>A (p.Leu255=) | ClinVar gnomAD v4 |
15 | g.74896258G>C | CA491491420 | MPI | c.777G>C (p.Leu259=) c.594G>C (p.Leu198=) c.627G>C (p.Leu209=) c.717G>C (p.Leu239=) c.256-1281G>C (n.256-1281G>C) c.444G>C (p.Leu148=) n.825G>C c.555G>C (p.Leu185=) c.765G>C (p.Leu255=) | gnomAD v4 |
15 | g.74896258G= | CA2187901882 | MPI | c.777G= (p.Leu259=) c.594G= (p.Leu198=) c.627G= (p.Leu209=) c.717G= (p.Leu239=) c.256-1281G= (n.256-1281G=) c.444G= (p.Leu148=) n.825G= c.555G= (p.Leu185=) c.765G= (p.Leu255=) | |
15 | g.74896258G>T | CA7662542 | MPI | c.777G>T (p.Leu259=) c.594G>T (p.Leu198=) c.627G>T (p.Leu209=) c.717G>T (p.Leu239=) c.256-1281G>T (n.256-1281G>T) c.444G>T (p.Leu148=) n.825G>T c.555G>T (p.Leu185=) c.765G>T (p.Leu255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896259C>A | CA393175987 | MPI | c.778C>A (p.Leu260Ile) c.595C>A (p.Leu199Ile) c.628C>A (p.Leu210Ile) c.718C>A (p.Leu240Ile) c.256-1280C>A (n.256-1280C>A) c.445C>A (p.Leu149Ile) n.826C>A c.556C>A (p.Leu186Ile) c.766C>A (p.Leu256Ile) | |
15 | g.74896259C= | CA2187901888 | MPI | c.778C= (p.Leu260=) c.595C= (p.Leu199=) c.628C= (p.Leu210=) c.718C= (p.Leu240=) c.256-1280C= (n.256-1280C=) c.445C= (p.Leu149=) n.826C= c.556C= (p.Leu186=) c.766C= (p.Leu256=) | |
15 | g.74896259C>G | CA393175988 | MPI | c.778C>G (p.Leu260Val) c.595C>G (p.Leu199Val) c.628C>G (p.Leu210Val) c.718C>G (p.Leu240Val) c.256-1280C>G (n.256-1280C>G) c.445C>G (p.Leu149Val) n.826C>G c.556C>G (p.Leu186Val) c.766C>G (p.Leu256Val) | |
15 | g.74896259C>T | CA393175989 | MPI | c.778C>T (p.Leu260Phe) c.595C>T (p.Leu199Phe) c.628C>T (p.Leu210Phe) c.718C>T (p.Leu240Phe) c.256-1280C>T (n.256-1280C>T) c.445C>T (p.Leu149Phe) n.826C>T c.556C>T (p.Leu186Phe) c.766C>T (p.Leu256Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896260T>A | CA393175990 | MPI | c.779T>A (p.Leu260His) c.596T>A (p.Leu199His) c.629T>A (p.Leu210His) c.719T>A (p.Leu240His) c.256-1279T>A (n.256-1279T>A) c.446T>A (p.Leu149His) n.827T>A c.557T>A (p.Leu186His) c.767T>A (p.Leu256His) | |
15 | g.74896260T>C | CA393175991 | MPI | c.779T>C (p.Leu260Pro) c.596T>C (p.Leu199Pro) c.629T>C (p.Leu210Pro) c.719T>C (p.Leu240Pro) c.256-1279T>C (n.256-1279T>C) c.446T>C (p.Leu149Pro) n.827T>C c.557T>C (p.Leu186Pro) c.767T>C (p.Leu256Pro) | |
15 | g.74896260T>G | CA393175992 | MPI | c.779T>G (p.Leu260Arg) c.596T>G (p.Leu199Arg) c.629T>G (p.Leu210Arg) c.719T>G (p.Leu240Arg) c.256-1279T>G (n.256-1279T>G) c.446T>G (p.Leu149Arg) n.827T>G c.557T>G (p.Leu186Arg) c.767T>G (p.Leu256Arg) | |
15 | g.74896261T>A | CA491491421 | MPI | c.780T>A (p.Leu260=) c.597T>A (p.Leu199=) c.630T>A (p.Leu210=) c.720T>A (p.Leu240=) c.256-1278T>A (n.256-1278T>A) c.447T>A (p.Leu149=) n.828T>A c.558T>A (p.Leu186=) c.768T>A (p.Leu256=) | |
15 | g.74896261T>C | CA7662543 | MPI | c.780T>C (p.Leu260=) c.597T>C (p.Leu199=) c.630T>C (p.Leu210=) c.720T>C (p.Leu240=) c.256-1278T>C (n.256-1278T>C) c.447T>C (p.Leu149=) n.828T>C c.558T>C (p.Leu186=) c.768T>C (p.Leu256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896261T>G | CA491491422 | MPI | c.780T>G (p.Leu260=) c.597T>G (p.Leu199=) c.630T>G (p.Leu210=) c.720T>G (p.Leu240=) c.256-1278T>G (n.256-1278T>G) c.447T>G (p.Leu149=) n.828T>G c.558T>G (p.Leu186=) c.768T>G (p.Leu256=) | |
15 | g.74896261T= | CA2187901891 | MPI | c.780T= (p.Leu260=) c.597T= (p.Leu199=) c.630T= (p.Leu210=) c.720T= (p.Leu240=) c.256-1278T= (n.256-1278T=) c.447T= (p.Leu149=) n.828T= c.558T= (p.Leu186=) c.768T= (p.Leu256=) | |
15 | g.74896262A= | CA2187901898 | MPI | c.781A= (p.Thr261=) c.598A= (p.Thr200=) c.631A= (p.Thr211=) c.721A= (p.Thr241=) c.256-1277A= (n.256-1277A=) c.448A= (p.Thr150=) n.829A= c.559A= (p.Thr187=) c.769A= (p.Thr257=) | |
15 | g.74896262A>C | CA393175993 | MPI | c.781A>C (p.Thr261Pro) c.598A>C (p.Thr200Pro) c.631A>C (p.Thr211Pro) c.721A>C (p.Thr241Pro) c.256-1277A>C (n.256-1277A>C) c.448A>C (p.Thr150Pro) n.829A>C c.559A>C (p.Thr187Pro) c.769A>C (p.Thr257Pro) | |
15 | g.74896262A>G | CA393175994 | MPI | c.781A>G (p.Thr261Ala) c.598A>G (p.Thr200Ala) c.631A>G (p.Thr211Ala) c.721A>G (p.Thr241Ala) c.256-1277A>G (n.256-1277A>G) c.448A>G (p.Thr150Ala) n.829A>G c.559A>G (p.Thr187Ala) c.769A>G (p.Thr257Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.74896262A>T | CA393175995 | MPI | c.781A>T (p.Thr261Ser) c.598A>T (p.Thr200Ser) c.631A>T (p.Thr211Ser) c.721A>T (p.Thr241Ser) c.256-1277A>T (n.256-1277A>T) c.448A>T (p.Thr150Ser) n.829A>T c.559A>T (p.Thr187Ser) c.769A>T (p.Thr257Ser) | |
15 | g.74896263C>A | CA393175996 | MPI | c.782C>A (p.Thr261Asn) c.599C>A (p.Thr200Asn) c.632C>A (p.Thr211Asn) c.722C>A (p.Thr241Asn) c.256-1276C>A (n.256-1276C>A) c.449C>A (p.Thr150Asn) n.830C>A c.560C>A (p.Thr187Asn) c.770C>A (p.Thr257Asn) | |
15 | g.74896263C>G | CA393175997 | MPI | c.782C>G (p.Thr261Ser) c.599C>G (p.Thr200Ser) c.632C>G (p.Thr211Ser) c.722C>G (p.Thr241Ser) c.256-1276C>G (n.256-1276C>G) c.449C>G (p.Thr150Ser) n.830C>G c.560C>G (p.Thr187Ser) c.770C>G (p.Thr257Ser) | |
15 | g.74896263C>T | CA393175998 | MPI | c.782C>T (p.Thr261Ile) c.599C>T (p.Thr200Ile) c.632C>T (p.Thr211Ile) c.722C>T (p.Thr241Ile) c.256-1276C>T (n.256-1276C>T) c.449C>T (p.Thr150Ile) n.830C>T c.560C>T (p.Thr187Ile) c.770C>T (p.Thr257Ile) | |
15 | g.74896264C>A | CA491491423 | MPI | c.783C>A (p.Thr261=) c.600C>A (p.Thr200=) c.633C>A (p.Thr211=) c.723C>A (p.Thr241=) c.256-1275C>A (n.256-1275C>A) c.450C>A (p.Thr150=) n.831C>A c.561C>A (p.Thr187=) c.771C>A (p.Thr257=) | ClinVar dbSNP |
15 | g.74896264C>G | CA491491425 | MPI | c.783C>G (p.Thr261=) c.600C>G (p.Thr200=) c.633C>G (p.Thr211=) c.723C>G (p.Thr241=) c.256-1275C>G (n.256-1275C>G) c.450C>G (p.Thr150=) n.831C>G c.561C>G (p.Thr187=) c.771C>G (p.Thr257=) | |
15 | g.74896264C>T | CA491491424 | MPI | c.783C>T (p.Thr261=) c.600C>T (p.Thr200=) c.633C>T (p.Thr211=) c.723C>T (p.Thr241=) c.256-1275C>T (n.256-1275C>T) c.450C>T (p.Thr150=) n.831C>T c.561C>T (p.Thr187=) c.771C>T (p.Thr257=) | ClinVar dbSNP |
15 | g.74896265C>A | CA393175999 | MPI | c.784C>A (p.Leu262Met) c.601C>A (p.Leu201Met) c.634C>A (p.Leu212Met) c.724C>A (p.Leu242Met) c.256-1274C>A (n.256-1274C>A) c.451C>A (p.Leu151Met) n.832C>A c.562C>A (p.Leu188Met) c.772C>A (p.Leu258Met) | |
15 | g.74896265C>G | CA393176000 | MPI | c.784C>G (p.Leu262Val) c.601C>G (p.Leu201Val) c.634C>G (p.Leu212Val) c.724C>G (p.Leu242Val) c.256-1274C>G (n.256-1274C>G) c.451C>G (p.Leu151Val) n.832C>G c.562C>G (p.Leu188Val) c.772C>G (p.Leu258Val) | |
15 | g.74896265C>T | CA491491426 | MPI | c.784C>T (p.Leu262=) c.601C>T (p.Leu201=) c.634C>T (p.Leu212=) c.724C>T (p.Leu242=) c.256-1274C>T (n.256-1274C>T) c.451C>T (p.Leu151=) n.832C>T c.562C>T (p.Leu188=) c.772C>T (p.Leu258=) | gnomAD v4 |
15 | g.74896266T>A | CA393176001 | MPI | c.785T>A (p.Leu262Gln) c.602T>A (p.Leu201Gln) c.635T>A (p.Leu212Gln) c.725T>A (p.Leu242Gln) c.256-1273T>A (n.256-1273T>A) c.452T>A (p.Leu151Gln) n.833T>A c.563T>A (p.Leu188Gln) c.773T>A (p.Leu258Gln) | |
15 | g.74896266T>C | CA393176002 | MPI | c.785T>C (p.Leu262Pro) c.602T>C (p.Leu201Pro) c.635T>C (p.Leu212Pro) c.725T>C (p.Leu242Pro) c.256-1273T>C (n.256-1273T>C) c.452T>C (p.Leu151Pro) n.833T>C c.563T>C (p.Leu188Pro) c.773T>C (p.Leu258Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896266T>G | CA393176003 | MPI | c.785T>G (p.Leu262Arg) c.602T>G (p.Leu201Arg) c.635T>G (p.Leu212Arg) c.725T>G (p.Leu242Arg) c.256-1273T>G (n.256-1273T>G) c.452T>G (p.Leu151Arg) n.833T>G c.563T>G (p.Leu188Arg) c.773T>G (p.Leu258Arg) | |
15 | g.74896266T= | CA2187901903 | MPI | c.785T= (p.Leu262=) c.602T= (p.Leu201=) c.635T= (p.Leu212=) c.725T= (p.Leu242=) c.256-1273T= (n.256-1273T=) c.452T= (p.Leu151=) n.833T= c.563T= (p.Leu188=) c.773T= (p.Leu258=) | |
15 | g.74896267G>A | CA491491427 | MPI | c.786G>A (p.Leu262=) c.603G>A (p.Leu201=) c.636G>A (p.Leu212=) c.726G>A (p.Leu242=) c.256-1272G>A (n.256-1272G>A) c.453G>A (p.Leu151=) n.834G>A c.564G>A (p.Leu188=) c.774G>A (p.Leu258=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896267G>C | CA491491428 | MPI | c.786G>C (p.Leu262=) c.603G>C (p.Leu201=) c.636G>C (p.Leu212=) c.726G>C (p.Leu242=) c.256-1272G>C (n.256-1272G>C) c.453G>C (p.Leu151=) n.834G>C c.564G>C (p.Leu188=) c.774G>C (p.Leu258=) | |
15 | g.74896267G= | CA2187901906 | MPI | c.786G= (p.Leu262=) c.603G= (p.Leu201=) c.636G= (p.Leu212=) c.726G= (p.Leu242=) c.256-1272G= (n.256-1272G=) c.453G= (p.Leu151=) n.834G= c.564G= (p.Leu188=) c.774G= (p.Leu258=) | |
15 | g.74896267G>T | CA491491429 | MPI | c.786G>T (p.Leu262=) c.603G>T (p.Leu201=) c.636G>T (p.Leu212=) c.726G>T (p.Leu242=) c.256-1272G>T (n.256-1272G>T) c.453G>T (p.Leu151=) n.834G>T c.564G>T (p.Leu188=) c.774G>T (p.Leu258=) | |
15 | g.74896268A>C | CA393176004 | MPI | c.787A>C (p.Lys263Gln) c.604A>C (p.Lys202Gln) c.637A>C (p.Lys213Gln) c.727A>C (p.Lys243Gln) c.256-1271A>C (n.256-1271A>C) c.454A>C (p.Lys152Gln) n.835A>C c.565A>C (p.Lys189Gln) c.775A>C (p.Lys259Gln) | |
15 | g.74896268A>G | CA393176005 | MPI | c.787A>G (p.Lys263Glu) c.604A>G (p.Lys202Glu) c.637A>G (p.Lys213Glu) c.727A>G (p.Lys243Glu) c.256-1271A>G (n.256-1271A>G) c.454A>G (p.Lys152Glu) n.835A>G c.565A>G (p.Lys189Glu) c.775A>G (p.Lys259Glu) | |
15 | g.74896268A>T | CA393176006 | MPI | c.787A>T (p.Lys263Ter) c.604A>T (p.Lys202Ter) c.637A>T (p.Lys213Ter) c.727A>T (p.Lys243Ter) c.256-1271A>T (n.256-1271A>T) c.454A>T (p.Lys152Ter) n.835A>T c.565A>T (p.Lys189Ter) c.775A>T (p.Lys259Ter) | |
15 | g.74896269A>C | CA393176007 | MPI | c.788A>C (p.Lys263Thr) c.605A>C (p.Lys202Thr) c.638A>C (p.Lys213Thr) c.728A>C (p.Lys243Thr) c.256-1270A>C (n.256-1270A>C) c.455A>C (p.Lys152Thr) n.836A>C c.566A>C (p.Lys189Thr) c.776A>C (p.Lys259Thr) | |
15 | g.74896269A>G | CA393176008 | MPI | c.788A>G (p.Lys263Arg) c.605A>G (p.Lys202Arg) c.638A>G (p.Lys213Arg) c.728A>G (p.Lys243Arg) c.256-1270A>G (n.256-1270A>G) c.455A>G (p.Lys152Arg) n.836A>G c.566A>G (p.Lys189Arg) c.776A>G (p.Lys259Arg) | |
15 | g.74896269A>T | CA393176009 | MPI | c.788A>T (p.Lys263Met) c.605A>T (p.Lys202Met) c.638A>T (p.Lys213Met) c.728A>T (p.Lys243Met) c.256-1270A>T (n.256-1270A>T) c.455A>T (p.Lys152Met) n.836A>T c.566A>T (p.Lys189Met) c.776A>T (p.Lys259Met) | |
15 | g.74896270G>A | CA491491430 | MPI | c.789G>A (p.Lys263=) c.606G>A (p.Lys202=) c.639G>A (p.Lys213=) c.729G>A (p.Lys243=) c.256-1269G>A (n.256-1269G>A) c.456G>A (p.Lys152=) n.837G>A c.567G>A (p.Lys189=) c.777G>A (p.Lys259=) | |
15 | g.74896270G>C | CA393176010 | MPI | c.789G>C (p.Lys263Asn) c.606G>C (p.Lys202Asn) c.639G>C (p.Lys213Asn) c.729G>C (p.Lys243Asn) c.256-1269G>C (n.256-1269G>C) c.456G>C (p.Lys152Asn) n.837G>C c.567G>C (p.Lys189Asn) c.777G>C (p.Lys259Asn) | |
15 | g.74896270G= | CA2187901909 | MPI | c.789G= (p.Lys263=) c.606G= (p.Lys202=) c.639G= (p.Lys213=) c.729G= (p.Lys243=) c.256-1269G= (n.256-1269G=) c.456G= (p.Lys152=) n.837G= c.567G= (p.Lys189=) c.777G= (p.Lys259=) | |
15 | g.74896270G>T | CA393176011 | MPI | c.789G>T (p.Lys263Asn) c.606G>T (p.Lys202Asn) c.639G>T (p.Lys213Asn) c.729G>T (p.Lys243Asn) c.256-1269G>T (n.256-1269G>T) c.456G>T (p.Lys152Asn) n.837G>T c.567G>T (p.Lys189Asn) c.777G>T (p.Lys259Asn) | dbSNP |
15 | g.74896271C>A | CA393176014 | MPI | c.790C>A (p.Pro264Thr) c.607C>A (p.Pro203Thr) c.640C>A (p.Pro214Thr) c.730C>A (p.Pro244Thr) c.256-1268C>A (n.256-1268C>A) c.457C>A (p.Pro153Thr) n.838C>A c.568C>A (p.Pro190Thr) c.778C>A (p.Pro260Thr) | |
15 | g.74896271C>G | CA393176013 | MPI | c.790C>G (p.Pro264Ala) c.607C>G (p.Pro203Ala) c.640C>G (p.Pro214Ala) c.730C>G (p.Pro244Ala) c.256-1268C>G (n.256-1268C>G) c.457C>G (p.Pro153Ala) n.838C>G c.568C>G (p.Pro190Ala) c.778C>G (p.Pro260Ala) | |
15 | g.74896271C>T | CA393176012 | MPI | c.790C>T (p.Pro264Ser) c.607C>T (p.Pro203Ser) c.640C>T (p.Pro214Ser) c.730C>T (p.Pro244Ser) c.256-1268C>T (n.256-1268C>T) c.457C>T (p.Pro153Ser) n.838C>T c.568C>T (p.Pro190Ser) c.778C>T (p.Pro260Ser) | COSMIC |
15 | g.74896272C>A | CA393176015 | MPI | c.791C>A (p.Pro264His) c.608C>A (p.Pro203His) c.641C>A (p.Pro214His) c.731C>A (p.Pro244His) c.256-1267C>A (n.256-1267C>A) c.458C>A (p.Pro153His) n.839C>A c.569C>A (p.Pro190His) c.779C>A (p.Pro260His) | dbSNP gnomAD v4 |
15 | g.74896272C= | CA2187901914 | MPI | c.791C= (p.Pro264=) c.608C= (p.Pro203=) c.641C= (p.Pro214=) c.731C= (p.Pro244=) c.256-1267C= (n.256-1267C=) c.458C= (p.Pro153=) n.839C= c.569C= (p.Pro190=) c.779C= (p.Pro260=) | |
15 | g.74896272C>G | CA393176016 | MPI | c.791C>G (p.Pro264Arg) c.608C>G (p.Pro203Arg) c.641C>G (p.Pro214Arg) c.731C>G (p.Pro244Arg) c.256-1267C>G (n.256-1267C>G) c.458C>G (p.Pro153Arg) n.839C>G c.569C>G (p.Pro190Arg) c.779C>G (p.Pro260Arg) | |
15 | g.74896272C>T | CA272825505 | MPI | c.791C>T (p.Pro264Leu) c.608C>T (p.Pro203Leu) c.641C>T (p.Pro214Leu) c.731C>T (p.Pro244Leu) c.256-1267C>T (n.256-1267C>T) c.458C>T (p.Pro153Leu) n.839C>T c.569C>T (p.Pro190Leu) c.779C>T (p.Pro260Leu) | dbSNP |
15 | g.74896273T>A | CA491491433 | MPI | c.792T>A (p.Pro264=) c.609T>A (p.Pro203=) c.642T>A (p.Pro214=) c.732T>A (p.Pro244=) c.256-1266T>A (n.256-1266T>A) c.459T>A (p.Pro153=) n.840T>A c.570T>A (p.Pro190=) c.780T>A (p.Pro260=) | |
15 | g.74896273T>C | CA491491431 | MPI | c.792T>C (p.Pro264=) c.609T>C (p.Pro203=) c.642T>C (p.Pro214=) c.732T>C (p.Pro244=) c.256-1266T>C (n.256-1266T>C) c.459T>C (p.Pro153=) n.840T>C c.570T>C (p.Pro190=) c.780T>C (p.Pro260=) | ClinVar gnomAD v4 |
15 | g.74896273T>G | CA491491432 | MPI | c.792T>G (p.Pro264=) c.609T>G (p.Pro203=) c.642T>G (p.Pro214=) c.732T>G (p.Pro244=) c.256-1266T>G (n.256-1266T>G) c.459T>G (p.Pro153=) n.840T>G c.570T>G (p.Pro190=) c.780T>G (p.Pro260=) | |
15 | g.74896273dup | CA619413149 | MPI | c.792dup (p.Gly265TrpfsTer?) c.609dup (p.Gly204TrpfsTer?) c.642dup (p.Gly215TrpfsTer?) c.732dup (p.Gly245TrpfsTer19) c.256-1266dup (n.256-1266dup) c.792dup (p.Gly265TrpfsTer19) c.732dup (p.Gly245TrpfsTer?) c.459dup (p.Gly154TrpfsTer19) n.840dup c.570dup (p.Gly191TrpfsTer?) c.780dup (p.Gly261TrpfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896274G>A | CA393176017 | MPI | c.793G>A (p.Gly265Arg) c.610G>A (p.Gly204Arg) c.643G>A (p.Gly215Arg) c.733G>A (p.Gly245Arg) c.256-1265G>A (n.256-1265G>A) c.460G>A (p.Gly154Arg) n.841G>A c.571G>A (p.Gly191Arg) c.781G>A (p.Gly261Arg) | ClinVar dbSNP |
15 | g.74896274G>C | CA393176019 | MPI | c.793G>C (p.Gly265Arg) c.610G>C (p.Gly204Arg) c.643G>C (p.Gly215Arg) c.733G>C (p.Gly245Arg) c.256-1265G>C (n.256-1265G>C) c.460G>C (p.Gly154Arg) n.841G>C c.571G>C (p.Gly191Arg) c.781G>C (p.Gly261Arg) | |
15 | g.74896274G= | CA2187901924 | MPI | c.793G= (p.Gly265=) c.610G= (p.Gly204=) c.643G= (p.Gly215=) c.733G= (p.Gly245=) c.256-1265G= (n.256-1265G=) c.460G= (p.Gly154=) n.841G= c.571G= (p.Gly191=) c.781G= (p.Gly261=) | |
15 | g.74896274G>T | CA393176018 | MPI | c.793G>T (p.Gly265Trp) c.610G>T (p.Gly204Trp) c.643G>T (p.Gly215Trp) c.733G>T (p.Gly245Trp) c.256-1265G>T (n.256-1265G>T) c.460G>T (p.Gly154Trp) n.841G>T c.571G>T (p.Gly191Trp) c.781G>T (p.Gly261Trp) | |
15 | g.74896276_74896277del | CA2629530678 | MPI | c.795_796del (p.Glu266GlyfsTer?) c.612_613del (p.Glu205GlyfsTer?) c.645_646del (p.Glu216GlyfsTer?) c.735_736del (p.Glu246GlyfsTer17) c.256-1263_256-1262del (n.256-1263_256-1262del) c.795_796del (p.Glu266GlyfsTer17) c.735_736del (p.Glu246GlyfsTer?) c.462_463del (p.Glu155GlyfsTer17) n.843_844del c.573_574del (p.Glu192GlyfsTer?) c.783_784del (p.Glu262GlyfsTer?) | gnomAD v4 |
15 | g.74896275G>A | CA393176020 | MPI | c.794G>A (p.Gly265Glu) c.611G>A (p.Gly204Glu) c.644G>A (p.Gly215Glu) c.734G>A (p.Gly245Glu) c.256-1264G>A (n.256-1264G>A) c.461G>A (p.Gly154Glu) n.842G>A c.572G>A (p.Gly191Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896275G>C | CA393176022 | MPI | c.794G>C (p.Gly265Ala) c.611G>C (p.Gly204Ala) c.644G>C (p.Gly215Ala) c.734G>C (p.Gly245Ala) c.256-1264G>C (n.256-1264G>C) c.461G>C (p.Gly154Ala) n.842G>C c.572G>C (p.Gly191Ala) c.782G>C (p.Gly261Ala) | |
15 | g.74896275G= | CA2187901927 | MPI | c.794G= (p.Gly265=) c.611G= (p.Gly204=) c.644G= (p.Gly215=) c.734G= (p.Gly245=) c.256-1264G= (n.256-1264G=) c.461G= (p.Gly154=) n.842G= c.572G= (p.Gly191=) c.782G= (p.Gly261=) | |
15 | g.74896275G>T | CA393176021 | MPI | c.794G>T (p.Gly265Val) c.611G>T (p.Gly204Val) c.644G>T (p.Gly215Val) c.734G>T (p.Gly245Val) c.256-1264G>T (n.256-1264G>T) c.461G>T (p.Gly154Val) n.842G>T c.572G>T (p.Gly191Val) c.782G>T (p.Gly261Val) | COSMIC |
15 | g.74896276G>A | CA491491434 | MPI | c.795G>A (p.Gly265=) c.612G>A (p.Gly204=) c.645G>A (p.Gly215=) c.735G>A (p.Gly245=) c.256-1263G>A (n.256-1263G>A) c.462G>A (p.Gly154=) n.843G>A c.573G>A (p.Gly191=) c.783G>A (p.Gly261=) | |
15 | g.74896276G>C | CA491491435 | MPI | c.795G>C (p.Gly265=) c.612G>C (p.Gly204=) c.645G>C (p.Gly215=) c.735G>C (p.Gly245=) c.256-1263G>C (n.256-1263G>C) c.462G>C (p.Gly154=) n.843G>C c.573G>C (p.Gly191=) c.783G>C (p.Gly261=) | |
15 | g.74896276G>T | CA491491436 | MPI | c.795G>T (p.Gly265=) c.612G>T (p.Gly204=) c.645G>T (p.Gly215=) c.735G>T (p.Gly245=) c.256-1263G>T (n.256-1263G>T) c.462G>T (p.Gly154=) n.843G>T c.573G>T (p.Gly191=) c.783G>T (p.Gly261=) | |
15 | g.74896277G>A | CA393176023 | MPI | c.796G>A (p.Glu266Lys) c.613G>A (p.Glu205Lys) c.646G>A (p.Glu216Lys) c.736G>A (p.Glu246Lys) c.256-1262G>A (n.256-1262G>A) c.463G>A (p.Glu155Lys) n.844G>A c.574G>A (p.Glu192Lys) c.784G>A (p.Glu262Lys) | ClinVar dbSNP |
15 | g.74896277G>C | CA393176024 | MPI | c.796G>C (p.Glu266Gln) c.613G>C (p.Glu205Gln) c.646G>C (p.Glu216Gln) c.736G>C (p.Glu246Gln) c.256-1262G>C (n.256-1262G>C) c.463G>C (p.Glu155Gln) n.844G>C c.574G>C (p.Glu192Gln) c.784G>C (p.Glu262Gln) | |
15 | g.74896277G= | CA2187901930 | MPI | c.796G= (p.Glu266=) c.613G= (p.Glu205=) c.646G= (p.Glu216=) c.736G= (p.Glu246=) c.256-1262G= (n.256-1262G=) c.463G= (p.Glu155=) n.844G= c.574G= (p.Glu192=) c.784G= (p.Glu262=) | |
15 | g.74896277G>T | CA393176025 | MPI | c.796G>T (p.Glu266Ter) c.613G>T (p.Glu205Ter) c.646G>T (p.Glu216Ter) c.736G>T (p.Glu246Ter) c.256-1262G>T (n.256-1262G>T) c.463G>T (p.Glu155Ter) n.844G>T c.574G>T (p.Glu192Ter) c.784G>T (p.Glu262Ter) | |
15 | g.74896278A>C | CA393176026 | MPI | c.797A>C (p.Glu266Ala) c.614A>C (p.Glu205Ala) c.647A>C (p.Glu216Ala) c.737A>C (p.Glu246Ala) c.256-1261A>C (n.256-1261A>C) c.464A>C (p.Glu155Ala) n.845A>C c.575A>C (p.Glu192Ala) c.785A>C (p.Glu262Ala) | |
15 | g.74896278A>G | CA393176027 | MPI | c.797A>G (p.Glu266Gly) c.614A>G (p.Glu205Gly) c.647A>G (p.Glu216Gly) c.737A>G (p.Glu246Gly) c.256-1261A>G (n.256-1261A>G) c.464A>G (p.Glu155Gly) n.845A>G c.575A>G (p.Glu192Gly) c.785A>G (p.Glu262Gly) | |
15 | g.74896278A>T | CA393176028 | MPI | c.797A>T (p.Glu266Val) c.614A>T (p.Glu205Val) c.647A>T (p.Glu216Val) c.737A>T (p.Glu246Val) c.256-1261A>T (n.256-1261A>T) c.464A>T (p.Glu155Val) n.845A>T c.575A>T (p.Glu192Val) c.785A>T (p.Glu262Val) | |
15 | g.74896279G>A | CA491491437 | MPI | c.798G>A (p.Glu266=) c.615G>A (p.Glu205=) c.648G>A (p.Glu216=) c.738G>A (p.Glu246=) c.256-1260G>A (n.256-1260G>A) c.465G>A (p.Glu155=) n.846G>A c.576G>A (p.Glu192=) c.786G>A (p.Glu262=) | |
15 | g.74896279G>C | CA393176029 | MPI | c.798G>C (p.Glu266Asp) c.615G>C (p.Glu205Asp) c.648G>C (p.Glu216Asp) c.738G>C (p.Glu246Asp) c.256-1260G>C (n.256-1260G>C) c.465G>C (p.Glu155Asp) n.846G>C c.576G>C (p.Glu192Asp) c.786G>C (p.Glu262Asp) | |
15 | g.74896279G>T | CA393176030 | MPI | c.798G>T (p.Glu266Asp) c.615G>T (p.Glu205Asp) c.648G>T (p.Glu216Asp) c.738G>T (p.Glu246Asp) c.256-1260G>T (n.256-1260G>T) c.465G>T (p.Glu155Asp) n.846G>T c.576G>T (p.Glu192Asp) c.786G>T (p.Glu262Asp) | |
15 | g.74896280G>A | CA393176031 | MPI | c.799G>A (p.Ala267Thr) c.616G>A (p.Ala206Thr) c.649G>A (p.Ala217Thr) c.739G>A (p.Ala247Thr) c.256-1259G>A (n.256-1259G>A) c.466G>A (p.Ala156Thr) n.847G>A c.577G>A (p.Ala193Thr) c.787G>A (p.Ala263Thr) | |
15 | g.74896280G>C | CA393176032 | MPI | c.799G>C (p.Ala267Pro) c.616G>C (p.Ala206Pro) c.649G>C (p.Ala217Pro) c.739G>C (p.Ala247Pro) c.256-1259G>C (n.256-1259G>C) c.466G>C (p.Ala156Pro) n.847G>C c.577G>C (p.Ala193Pro) c.787G>C (p.Ala263Pro) | gnomAD v4 |
15 | g.74896280G>T | CA393176033 | MPI | c.799G>T (p.Ala267Ser) c.616G>T (p.Ala206Ser) c.649G>T (p.Ala217Ser) c.739G>T (p.Ala247Ser) c.256-1259G>T (n.256-1259G>T) c.466G>T (p.Ala156Ser) n.847G>T c.577G>T (p.Ala193Ser) c.787G>T (p.Ala263Ser) | |
15 | g.74896281C>A | CA393176034 | MPI | c.800C>A (p.Ala267Asp) c.617C>A (p.Ala206Asp) c.650C>A (p.Ala217Asp) c.740C>A (p.Ala247Asp) c.256-1258C>A (n.256-1258C>A) c.467C>A (p.Ala156Asp) n.848C>A c.578C>A (p.Ala193Asp) c.788C>A (p.Ala263Asp) | |
15 | g.74896281C>G | CA393176036 | MPI | c.800C>G (p.Ala267Gly) c.617C>G (p.Ala206Gly) c.650C>G (p.Ala217Gly) c.740C>G (p.Ala247Gly) c.256-1258C>G (n.256-1258C>G) c.467C>G (p.Ala156Gly) n.848C>G c.578C>G (p.Ala193Gly) c.788C>G (p.Ala263Gly) | |
15 | g.74896281C>T | CA393176035 | MPI | c.800C>T (p.Ala267Val) c.617C>T (p.Ala206Val) c.650C>T (p.Ala217Val) c.740C>T (p.Ala247Val) c.256-1258C>T (n.256-1258C>T) c.467C>T (p.Ala156Val) n.848C>T c.578C>T (p.Ala193Val) c.788C>T (p.Ala263Val) | gnomAD v4 |
15 | g.74896282C>A | CA491491438 | MPI | c.801C>A (p.Ala267=) c.618C>A (p.Ala206=) c.651C>A (p.Ala217=) c.741C>A (p.Ala247=) c.256-1257C>A (n.256-1257C>A) c.468C>A (p.Ala156=) n.849C>A c.579C>A (p.Ala193=) c.789C>A (p.Ala263=) | |
15 | g.74896282C>G | CA491491439 | MPI | c.801C>G (p.Ala267=) c.618C>G (p.Ala206=) c.651C>G (p.Ala217=) c.741C>G (p.Ala247=) c.256-1257C>G (n.256-1257C>G) c.468C>G (p.Ala156=) n.849C>G c.579C>G (p.Ala193=) c.789C>G (p.Ala263=) | |
15 | g.74896282C>T | CA491491440 | MPI | c.801C>T (p.Ala267=) c.618C>T (p.Ala206=) c.651C>T (p.Ala217=) c.741C>T (p.Ala247=) c.256-1257C>T (n.256-1257C>T) c.468C>T (p.Ala156=) n.849C>T c.579C>T (p.Ala193=) c.789C>T (p.Ala263=) | |
15 | g.74896282_74896284del | CA912992716 | MPI | c.801_803del (p.Met268del) c.618_620del (p.Met207del) c.651_653del (p.Met218del) c.741_743del (p.Met248del) c.256-1257_256-1255del (n.256-1257_256-1255del) c.468_470del (p.Met157del) n.849_851del c.579_581del (p.Met194del) c.789_791del (p.Met264del) | |
15 | g.74896282_74896284delinsCAT | CA2187901935 | MPI | c.801_803delinsCAT (p.Ala267=) c.618_620delinsCAT (p.Ala206=) c.651_653delinsCAT (p.Ala217=) c.741_743delinsCAT (p.Ala247=) c.256-1257_256-1255delinsCAT (n.256-1257_256-1255delinsCAT) c.468_470delinsCAT (p.Ala156=) n.849_851delinsCAT c.579_581delinsCAT (p.Ala193=) c.789_791delinsCAT (p.Ala263=) | |
15 | g.74896283A= | CA2187901942 | MPI | c.802A= (p.Met268=) c.619A= (p.Met207=) c.652A= (p.Met218=) c.742A= (p.Met248=) c.256-1256A= (n.256-1256A=) c.469A= (p.Met157=) n.850A= c.580A= (p.Met194=) c.790A= (p.Met264=) | |
15 | g.74896283A>C | CA393176037 | MPI | c.802A>C (p.Met268Leu) c.619A>C (p.Met207Leu) c.652A>C (p.Met218Leu) c.742A>C (p.Met248Leu) c.256-1256A>C (n.256-1256A>C) c.469A>C (p.Met157Leu) n.850A>C c.580A>C (p.Met194Leu) c.790A>C (p.Met264Leu) | |
15 | g.74896283A>G | CA7662544 | MPI | c.802A>G (p.Met268Val) c.619A>G (p.Met207Val) c.652A>G (p.Met218Val) c.742A>G (p.Met248Val) c.256-1256A>G (n.256-1256A>G) c.469A>G (p.Met157Val) n.850A>G c.580A>G (p.Met194Val) c.790A>G (p.Met264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896283A>T | CA393176038 | MPI | c.802A>T (p.Met268Leu) c.619A>T (p.Met207Leu) c.652A>T (p.Met218Leu) c.742A>T (p.Met248Leu) c.256-1256A>T (n.256-1256A>T) c.469A>T (p.Met157Leu) n.850A>T c.580A>T (p.Met194Leu) c.790A>T (p.Met264Leu) | |
15 | g.74896283_74896284del | CA658824073 | MPI | c.802_803del (p.Met268ValfsTer?) c.619_620del (p.Met207ValfsTer?) c.652_653del (p.Met218ValfsTer?) c.742_743del (p.Met248ValfsTer15) c.256-1256_256-1255del (n.256-1256_256-1255del) c.802_803del (p.Met268ValfsTer15) c.742_743del (p.Met248ValfsTer?) c.469_470del (p.Met157ValfsTer15) n.850_851del c.580_581del (p.Met194ValfsTer?) c.790_791del (p.Met264ValfsTer?) | ClinVar dbSNP |
15 | g.74896284T>A | CA393176039 | MPI | c.803T>A (p.Met268Lys) c.620T>A (p.Met207Lys) c.653T>A (p.Met218Lys) c.743T>A (p.Met248Lys) c.256-1255T>A (n.256-1255T>A) c.470T>A (p.Met157Lys) n.851T>A c.581T>A (p.Met194Lys) c.791T>A (p.Met264Lys) | |
15 | g.74896284T>C | CA393176040 | MPI | c.803T>C (p.Met268Thr) c.620T>C (p.Met207Thr) c.653T>C (p.Met218Thr) c.743T>C (p.Met248Thr) c.256-1255T>C (n.256-1255T>C) c.470T>C (p.Met157Thr) n.851T>C c.581T>C (p.Met194Thr) c.791T>C (p.Met264Thr) | dbSNP gnomAD v4 |
15 | g.74896284T>G | CA393176041 | MPI | c.803T>G (p.Met268Arg) c.620T>G (p.Met207Arg) c.653T>G (p.Met218Arg) c.743T>G (p.Met248Arg) c.256-1255T>G (n.256-1255T>G) c.470T>G (p.Met157Arg) n.851T>G c.581T>G (p.Met194Arg) c.791T>G (p.Met264Arg) | |
15 | g.74896284T= | CA2187901946 | MPI | c.803T= (p.Met268=) c.620T= (p.Met207=) c.653T= (p.Met218=) c.743T= (p.Met248=) c.256-1255T= (n.256-1255T=) c.470T= (p.Met157=) n.851T= c.581T= (p.Met194=) c.791T= (p.Met264=) | |
15 | g.74896285G>A | CA393176042 | MPI | c.804G>A (p.Met268Ile) c.621G>A (p.Met207Ile) c.654G>A (p.Met218Ile) c.744G>A (p.Met248Ile) c.256-1254G>A (n.256-1254G>A) c.471G>A (p.Met157Ile) n.852G>A c.582G>A (p.Met194Ile) c.792G>A (p.Met264Ile) | |
15 | g.74896285G>C | CA393176043 | MPI | c.804G>C (p.Met268Ile) c.621G>C (p.Met207Ile) c.654G>C (p.Met218Ile) c.744G>C (p.Met248Ile) c.256-1254G>C (n.256-1254G>C) c.471G>C (p.Met157Ile) n.852G>C c.582G>C (p.Met194Ile) c.792G>C (p.Met264Ile) | |
15 | g.74896285G>T | CA393176044 | MPI | c.804G>T (p.Met268Ile) c.621G>T (p.Met207Ile) c.654G>T (p.Met218Ile) c.744G>T (p.Met248Ile) c.256-1254G>T (n.256-1254G>T) c.471G>T (p.Met157Ile) n.852G>T c.582G>T (p.Met194Ile) c.792G>T (p.Met264Ile) | |
15 | g.74896286T>A | CA393176046 | MPI | c.805T>A (p.Phe269Ile) c.622T>A (p.Phe208Ile) c.655T>A (p.Phe219Ile) c.745T>A (p.Phe249Ile) c.256-1253T>A (n.256-1253T>A) c.472T>A (p.Phe158Ile) n.853T>A c.583T>A (p.Phe195Ile) c.793T>A (p.Phe265Ile) | |
15 | g.74896286T>C | CA393176047 | MPI | c.805T>C (p.Phe269Leu) c.622T>C (p.Phe208Leu) c.655T>C (p.Phe219Leu) c.745T>C (p.Phe249Leu) c.256-1253T>C (n.256-1253T>C) c.472T>C (p.Phe158Leu) n.853T>C c.583T>C (p.Phe195Leu) c.793T>C (p.Phe265Leu) | |
15 | g.74896286T>G | CA393176045 | MPI | c.805T>G (p.Phe269Val) c.622T>G (p.Phe208Val) c.655T>G (p.Phe219Val) c.745T>G (p.Phe249Val) c.256-1253T>G (n.256-1253T>G) c.472T>G (p.Phe158Val) n.853T>G c.583T>G (p.Phe195Val) c.793T>G (p.Phe265Val) | |
15 | g.74896287T>A | CA393176048 | MPI | c.806T>A (p.Phe269Tyr) c.623T>A (p.Phe208Tyr) c.656T>A (p.Phe219Tyr) c.746T>A (p.Phe249Tyr) c.256-1252T>A (n.256-1252T>A) c.473T>A (p.Phe158Tyr) n.854T>A c.584T>A (p.Phe195Tyr) c.794T>A (p.Phe265Tyr) | |
15 | g.74896287T>C | CA393176049 | MPI | c.806T>C (p.Phe269Ser) c.623T>C (p.Phe208Ser) c.656T>C (p.Phe219Ser) c.746T>C (p.Phe249Ser) c.256-1252T>C (n.256-1252T>C) c.473T>C (p.Phe158Ser) n.854T>C c.584T>C (p.Phe195Ser) c.794T>C (p.Phe265Ser) | gnomAD v4 |
15 | g.74896287T>G | CA393176050 | MPI | c.806T>G (p.Phe269Cys) c.623T>G (p.Phe208Cys) c.656T>G (p.Phe219Cys) c.746T>G (p.Phe249Cys) c.256-1252T>G (n.256-1252T>G) c.473T>G (p.Phe158Cys) n.854T>G c.584T>G (p.Phe195Cys) c.794T>G (p.Phe265Cys) | |
15 | g.74896288T>A | CA393176051 | MPI | c.807T>A (p.Phe269Leu) c.624T>A (p.Phe208Leu) c.657T>A (p.Phe219Leu) c.747T>A (p.Phe249Leu) c.256-1251T>A (n.256-1251T>A) c.474T>A (p.Phe158Leu) n.855T>A c.585T>A (p.Phe195Leu) c.795T>A (p.Phe265Leu) | |
15 | g.74896288T>C | CA491491441 | MPI | c.807T>C (p.Phe269=) c.624T>C (p.Phe208=) c.657T>C (p.Phe219=) c.747T>C (p.Phe249=) c.256-1251T>C (n.256-1251T>C) c.474T>C (p.Phe158=) n.855T>C c.585T>C (p.Phe195=) c.795T>C (p.Phe265=) | |
15 | g.74896288T>G | CA393176052 | MPI | c.807T>G (p.Phe269Leu) c.624T>G (p.Phe208Leu) c.657T>G (p.Phe219Leu) c.747T>G (p.Phe249Leu) c.256-1251T>G (n.256-1251T>G) c.474T>G (p.Phe158Leu) n.855T>G c.585T>G (p.Phe195Leu) c.795T>G (p.Phe265Leu) | |
15 | g.74896289C>A | CA393176054 | MPI | c.808C>A (p.Leu270Met) c.625C>A (p.Leu209Met) c.658C>A (p.Leu220Met) c.748C>A (p.Leu250Met) c.256-1250C>A (n.256-1250C>A) c.475C>A (p.Leu159Met) n.856C>A c.586C>A (p.Leu196Met) c.796C>A (p.Leu266Met) | |
15 | g.74896289C>G | CA393176053 | MPI | c.808C>G (p.Leu270Val) c.625C>G (p.Leu209Val) c.658C>G (p.Leu220Val) c.748C>G (p.Leu250Val) c.256-1250C>G (n.256-1250C>G) c.475C>G (p.Leu159Val) n.856C>G c.586C>G (p.Leu196Val) c.796C>G (p.Leu266Val) | |
15 | g.74896289C>T | CA491491442 | MPI | c.808C>T (p.Leu270=) c.625C>T (p.Leu209=) c.658C>T (p.Leu220=) c.748C>T (p.Leu250=) c.256-1250C>T (n.256-1250C>T) c.475C>T (p.Leu159=) n.856C>T c.586C>T (p.Leu196=) c.796C>T (p.Leu266=) | |
15 | g.74896290T>A | CA393176055 | MPI | c.809T>A (p.Leu270Gln) c.626T>A (p.Leu209Gln) c.659T>A (p.Leu220Gln) c.749T>A (p.Leu250Gln) c.256-1249T>A (n.256-1249T>A) c.476T>A (p.Leu159Gln) n.857T>A c.587T>A (p.Leu196Gln) c.797T>A (p.Leu266Gln) | |
15 | g.74896290T>C | CA272825513 | MPI | c.809T>C (p.Leu270Pro) c.626T>C (p.Leu209Pro) c.659T>C (p.Leu220Pro) c.749T>C (p.Leu250Pro) c.256-1249T>C (n.256-1249T>C) c.476T>C (p.Leu159Pro) n.857T>C c.587T>C (p.Leu196Pro) c.797T>C (p.Leu266Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896290T>G | CA393176056 | MPI | c.809T>G (p.Leu270Arg) c.626T>G (p.Leu209Arg) c.659T>G (p.Leu220Arg) c.749T>G (p.Leu250Arg) c.256-1249T>G (n.256-1249T>G) c.476T>G (p.Leu159Arg) n.857T>G c.587T>G (p.Leu196Arg) c.797T>G (p.Leu266Arg) | |
15 | g.74896290T= | CA2187901949 | MPI | c.809T= (p.Leu270=) c.626T= (p.Leu209=) c.659T= (p.Leu220=) c.749T= (p.Leu250=) c.256-1249T= (n.256-1249T=) c.476T= (p.Leu159=) n.857T= c.587T= (p.Leu196=) c.797T= (p.Leu266=) | |
15 | g.74896291G>A | CA491491443 | MPI | c.810G>A (p.Leu270=) c.627G>A (p.Leu209=) c.660G>A (p.Leu220=) c.750G>A (p.Leu250=) c.256-1248G>A (n.256-1248G>A) c.477G>A (p.Leu159=) n.858G>A c.588G>A (p.Leu196=) c.798G>A (p.Leu266=) | ClinVar |
15 | g.74896291G>C | CA491491444 | MPI | c.810G>C (p.Leu270=) c.627G>C (p.Leu209=) c.660G>C (p.Leu220=) c.750G>C (p.Leu250=) c.256-1248G>C (n.256-1248G>C) c.477G>C (p.Leu159=) n.858G>C c.588G>C (p.Leu196=) c.798G>C (p.Leu266=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896291G>T | CA491491445 | MPI | c.810G>T (p.Leu270=) c.627G>T (p.Leu209=) c.660G>T (p.Leu220=) c.750G>T (p.Leu250=) c.256-1248G>T (n.256-1248G>T) c.477G>T (p.Leu159=) n.858G>T c.588G>T (p.Leu196=) c.798G>T (p.Leu266=) | |
15 | g.74896292del | CA2629530697 | MPI | c.811del (p.Glu271ArgfsTer9) c.628del (p.Glu210ArgfsTer9) c.661del (p.Glu221ArgfsTer9) c.751del (p.Glu251ArgfsTer9) c.256-1247del (n.256-1247del) c.478del (p.Glu160ArgfsTer9) n.859del c.589del (p.Glu197ArgfsTer9) c.799del (p.Glu267ArgfsTer9) | gnomAD v4 |
15 | g.74896292G>A | CA393176057 | MPI | c.811G>A (p.Glu271Lys) c.628G>A (p.Glu210Lys) c.661G>A (p.Glu221Lys) c.751G>A (p.Glu251Lys) c.256-1247G>A (n.256-1247G>A) c.478G>A (p.Glu160Lys) n.859G>A c.589G>A (p.Glu197Lys) c.799G>A (p.Glu267Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896292G>C | CA393176058 | MPI | c.811G>C (p.Glu271Gln) c.628G>C (p.Glu210Gln) c.661G>C (p.Glu221Gln) c.751G>C (p.Glu251Gln) c.256-1247G>C (n.256-1247G>C) c.478G>C (p.Glu160Gln) n.859G>C c.589G>C (p.Glu197Gln) c.799G>C (p.Glu267Gln) | |
15 | g.74896292G= | CA2187901954 | MPI | c.811G= (p.Glu271=) c.628G= (p.Glu210=) c.661G= (p.Glu221=) c.751G= (p.Glu251=) c.256-1247G= (n.256-1247G=) c.478G= (p.Glu160=) n.859G= c.589G= (p.Glu197=) c.799G= (p.Glu267=) | |
15 | g.74896292G>T | CA393176059 | MPI | c.811G>T (p.Glu271Ter) c.628G>T (p.Glu210Ter) c.661G>T (p.Glu221Ter) c.751G>T (p.Glu251Ter) c.256-1247G>T (n.256-1247G>T) c.478G>T (p.Glu160Ter) n.859G>T c.589G>T (p.Glu197Ter) c.799G>T (p.Glu267Ter) | |
15 | g.74896293A>C | CA393176060 | MPI | c.812A>C (p.Glu271Ala) c.629A>C (p.Glu210Ala) c.662A>C (p.Glu221Ala) c.752A>C (p.Glu251Ala) c.256-1246A>C (n.256-1246A>C) c.479A>C (p.Glu160Ala) n.860A>C c.590A>C (p.Glu197Ala) c.800A>C (p.Glu267Ala) | |
15 | g.74896293A>G | CA393176062 | MPI | c.812A>G (p.Glu271Gly) c.629A>G (p.Glu210Gly) c.662A>G (p.Glu221Gly) c.752A>G (p.Glu251Gly) c.256-1246A>G (n.256-1246A>G) c.479A>G (p.Glu160Gly) n.860A>G c.590A>G (p.Glu197Gly) c.800A>G (p.Glu267Gly) | |
15 | g.74896293A>T | CA393176061 | MPI | c.812A>T (p.Glu271Val) c.629A>T (p.Glu210Val) c.662A>T (p.Glu221Val) c.752A>T (p.Glu251Val) c.256-1246A>T (n.256-1246A>T) c.479A>T (p.Glu160Val) n.860A>T c.590A>T (p.Glu197Val) c.800A>T (p.Glu267Val) | |
15 | g.74896294G>A | CA491491446 | MPI | c.813G>A (p.Glu271=) c.630G>A (p.Glu210=) c.663G>A (p.Glu221=) c.753G>A (p.Glu251=) c.256-1245G>A (n.256-1245G>A) c.480G>A (p.Glu160=) n.861G>A c.591G>A (p.Glu197=) c.801G>A (p.Glu267=) | |
15 | g.74896294G>C | CA393176063 | MPI | c.813G>C (p.Glu271Asp) c.630G>C (p.Glu210Asp) c.663G>C (p.Glu221Asp) c.753G>C (p.Glu251Asp) c.256-1245G>C (n.256-1245G>C) c.480G>C (p.Glu160Asp) n.861G>C c.591G>C (p.Glu197Asp) c.801G>C (p.Glu267Asp) | gnomAD v4 |
15 | g.74896294G>T | CA393176064 | MPI | c.813G>T (p.Glu271Asp) c.630G>T (p.Glu210Asp) c.663G>T (p.Glu221Asp) c.753G>T (p.Glu251Asp) c.256-1245G>T (n.256-1245G>T) c.480G>T (p.Glu160Asp) n.861G>T c.591G>T (p.Glu197Asp) c.801G>T (p.Glu267Asp) | |
15 | g.74896295G>A | CA393176065 | MPI | c.814G>A (p.Ala272Thr) c.631G>A (p.Ala211Thr) c.664G>A (p.Ala222Thr) c.754G>A (p.Ala252Thr) c.256-1244G>A (n.256-1244G>A) c.481G>A (p.Ala161Thr) n.862G>A c.592G>A (p.Ala198Thr) c.802G>A (p.Ala268Thr) | |
15 | g.74896295G>C | CA393176066 | MPI | c.814G>C (p.Ala272Pro) c.631G>C (p.Ala211Pro) c.664G>C (p.Ala222Pro) c.754G>C (p.Ala252Pro) c.256-1244G>C (n.256-1244G>C) c.481G>C (p.Ala161Pro) n.862G>C c.592G>C (p.Ala198Pro) c.802G>C (p.Ala268Pro) | |
15 | g.74896295G>T | CA393176067 | MPI | c.814G>T (p.Ala272Ser) c.631G>T (p.Ala211Ser) c.664G>T (p.Ala222Ser) c.754G>T (p.Ala252Ser) c.256-1244G>T (n.256-1244G>T) c.481G>T (p.Ala161Ser) n.862G>T c.592G>T (p.Ala198Ser) c.802G>T (p.Ala268Ser) | |
15 | g.74896296C>A | CA393176068 | MPI | c.815C>A (p.Ala272Asp) c.632C>A (p.Ala211Asp) c.665C>A (p.Ala222Asp) c.755C>A (p.Ala252Asp) c.256-1243C>A (n.256-1243C>A) c.482C>A (p.Ala161Asp) n.863C>A c.593C>A (p.Ala198Asp) c.803C>A (p.Ala268Asp) | |
15 | g.74896296C= | CA2187901959 | MPI | c.815C= (p.Ala272=) c.632C= (p.Ala211=) c.665C= (p.Ala222=) c.755C= (p.Ala252=) c.256-1243C= (n.256-1243C=) c.482C= (p.Ala161=) n.863C= c.593C= (p.Ala198=) c.803C= (p.Ala268=) | |
15 | g.74896296C>G | CA393176069 | MPI | c.815C>G (p.Ala272Gly) c.632C>G (p.Ala211Gly) c.665C>G (p.Ala222Gly) c.755C>G (p.Ala252Gly) c.256-1243C>G (n.256-1243C>G) c.482C>G (p.Ala161Gly) n.863C>G c.593C>G (p.Ala198Gly) c.803C>G (p.Ala268Gly) | |
15 | g.74896296C>T | CA7662545 | MPI | c.815C>T (p.Ala272Val) c.632C>T (p.Ala211Val) c.665C>T (p.Ala222Val) c.755C>T (p.Ala252Val) c.256-1243C>T (n.256-1243C>T) c.482C>T (p.Ala161Val) n.863C>T c.593C>T (p.Ala198Val) c.803C>T (p.Ala268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896297C>A | CA491491447 | MPI | c.816C>A (p.Ala272=) c.633C>A (p.Ala211=) c.666C>A (p.Ala222=) c.756C>A (p.Ala252=) c.256-1242C>A (n.256-1242C>A) c.483C>A (p.Ala161=) n.864C>A c.594C>A (p.Ala198=) c.804C>A (p.Ala268=) | |
15 | g.74896297C= | CA2187901962 | MPI | c.816C= (p.Ala272=) c.633C= (p.Ala211=) c.666C= (p.Ala222=) c.756C= (p.Ala252=) c.256-1242C= (n.256-1242C=) c.483C= (p.Ala161=) n.864C= c.594C= (p.Ala198=) c.804C= (p.Ala268=) | |
15 | g.74896297C>G | CA491491448 | MPI | c.816C>G (p.Ala272=) c.633C>G (p.Ala211=) c.666C>G (p.Ala222=) c.756C>G (p.Ala252=) c.256-1242C>G (n.256-1242C>G) c.483C>G (p.Ala161=) n.864C>G c.594C>G (p.Ala198=) c.804C>G (p.Ala268=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896297C>T | CA491491449 | MPI | c.816C>T (p.Ala272=) c.633C>T (p.Ala211=) c.666C>T (p.Ala222=) c.756C>T (p.Ala252=) c.256-1242C>T (n.256-1242C>T) c.483C>T (p.Ala161=) n.864C>T c.594C>T (p.Ala198=) c.804C>T (p.Ala268=) | |
15 | g.74896298A>C | CA393176070 | MPI | c.817A>C (p.Asn273His) c.634A>C (p.Asn212His) c.667A>C (p.Asn223His) c.757A>C (p.Asn253His) c.256-1241A>C (n.256-1241A>C) c.484A>C (p.Asn162His) n.865A>C c.595A>C (p.Asn199His) c.805A>C (p.Asn269His) | |
15 | g.74896298A>G | CA393176071 | MPI | c.817A>G (p.Asn273Asp) c.634A>G (p.Asn212Asp) c.667A>G (p.Asn223Asp) c.757A>G (p.Asn253Asp) c.256-1241A>G (n.256-1241A>G) c.484A>G (p.Asn162Asp) n.865A>G c.595A>G (p.Asn199Asp) c.805A>G (p.Asn269Asp) | |
15 | g.74896298A>T | CA393176072 | MPI | c.817A>T (p.Asn273Tyr) c.634A>T (p.Asn212Tyr) c.667A>T (p.Asn223Tyr) c.757A>T (p.Asn253Tyr) c.256-1241A>T (n.256-1241A>T) c.484A>T (p.Asn162Tyr) n.865A>T c.595A>T (p.Asn199Tyr) c.805A>T (p.Asn269Tyr) | |
15 | g.74896299A= | CA2187901969 | MPI | c.818A= (p.Asn273=) c.635A= (p.Asn212=) c.668A= (p.Asn223=) c.758A= (p.Asn253=) c.256-1240A= (n.256-1240A=) c.485A= (p.Asn162=) n.866A= c.596A= (p.Asn199=) c.806A= (p.Asn269=) | |
15 | g.74896299A>C | CA393176074 | MPI | c.818A>C (p.Asn273Thr) c.635A>C (p.Asn212Thr) c.668A>C (p.Asn223Thr) c.758A>C (p.Asn253Thr) c.256-1240A>C (n.256-1240A>C) c.485A>C (p.Asn162Thr) n.866A>C c.596A>C (p.Asn199Thr) c.806A>C (p.Asn269Thr) | |
15 | g.74896299A>G | CA7662546 | MPI | c.818A>G (p.Asn273Ser) c.635A>G (p.Asn212Ser) c.668A>G (p.Asn223Ser) c.758A>G (p.Asn253Ser) c.256-1240A>G (n.256-1240A>G) c.485A>G (p.Asn162Ser) n.866A>G c.596A>G (p.Asn199Ser) c.806A>G (p.Asn269Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896299A>T | CA393176073 | MPI | c.818A>T (p.Asn273Ile) c.635A>T (p.Asn212Ile) c.668A>T (p.Asn223Ile) c.758A>T (p.Asn253Ile) c.256-1240A>T (n.256-1240A>T) c.485A>T (p.Asn162Ile) n.866A>T c.596A>T (p.Asn199Ile) c.806A>T (p.Asn269Ile) | |
15 | g.74896299delinsTC | CA2695197320 | MPI | c.818delinsTC (p.Asn273IlefsTer?) c.635delinsTC (p.Asn212IlefsTer?) c.668delinsTC (p.Asn223IlefsTer?) c.758delinsTC (p.Asn253IlefsTer11) c.256-1240delinsTC (n.256-1240delinsTC) c.818delinsTC (p.Asn273IlefsTer11) c.758delinsTC (p.Asn253IlefsTer?) c.485delinsTC (p.Asn162IlefsTer11) c.818delinsTC (p.Asn273IlefsTer30) n.866delinsTC c.596delinsTC (p.Asn199IlefsTer30) c.806delinsTC (p.Asn269IlefsTer?) c.758delinsTC (p.Asn253IlefsTer30) c.668delinsTC (p.Asn223IlefsTer30) | ClinVar |
15 | g.74896300C>A | CA393176075 | MPI | c.819C>A (p.Asn273Lys) c.636C>A (p.Asn212Lys) c.669C>A (p.Asn223Lys) c.759C>A (p.Asn253Lys) c.256-1239C>A (n.256-1239C>A) c.486C>A (p.Asn162Lys) n.867C>A c.597C>A (p.Asn199Lys) c.807C>A (p.Asn269Lys) | |
15 | g.74896300C= | CA2187901973 | MPI | c.819C= (p.Asn273=) c.636C= (p.Asn212=) c.669C= (p.Asn223=) c.759C= (p.Asn253=) c.256-1239C= (n.256-1239C=) c.486C= (p.Asn162=) n.867C= c.597C= (p.Asn199=) c.807C= (p.Asn269=) | |
15 | g.74896300C>G | CA272825526 | MPI | c.819C>G (p.Asn273Lys) c.636C>G (p.Asn212Lys) c.669C>G (p.Asn223Lys) c.759C>G (p.Asn253Lys) c.256-1239C>G (n.256-1239C>G) c.486C>G (p.Asn162Lys) n.867C>G c.597C>G (p.Asn199Lys) c.807C>G (p.Asn269Lys) | dbSNP gnomAD v4 |
15 | g.74896300C>T | CA7662547 | MPI | c.819C>T (p.Asn273=) c.636C>T (p.Asn212=) c.669C>T (p.Asn223=) c.759C>T (p.Asn253=) c.256-1239C>T (n.256-1239C>T) c.486C>T (p.Asn162=) n.867C>T c.597C>T (p.Asn199=) c.807C>T (p.Asn269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896301G>A | CA7662548 | MPI | c.820G>A (p.Val274Ile) c.637G>A (p.Val213Ile) c.670G>A (p.Val224Ile) c.760G>A (p.Val254Ile) c.256-1238G>A (n.256-1238G>A) c.487G>A (p.Val163Ile) n.868G>A c.598G>A (p.Val200Ile) c.808G>A (p.Val270Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896301G>C | CA393176076 | MPI | c.820G>C (p.Val274Leu) c.637G>C (p.Val213Leu) c.670G>C (p.Val224Leu) c.760G>C (p.Val254Leu) c.256-1238G>C (n.256-1238G>C) c.487G>C (p.Val163Leu) n.868G>C c.598G>C (p.Val200Leu) c.808G>C (p.Val270Leu) | |
15 | g.74896301G= | CA2187901981 | MPI | c.820G= (p.Val274=) c.637G= (p.Val213=) c.670G= (p.Val224=) c.760G= (p.Val254=) c.256-1238G= (n.256-1238G=) c.487G= (p.Val163=) n.868G= c.598G= (p.Val200=) c.808G= (p.Val270=) | |
15 | g.74896301G>T | CA393176077 | MPI | c.820G>T (p.Val274Leu) c.637G>T (p.Val213Leu) c.670G>T (p.Val224Leu) c.760G>T (p.Val254Leu) c.256-1238G>T (n.256-1238G>T) c.487G>T (p.Val163Leu) n.868G>T c.598G>T (p.Val200Leu) c.808G>T (p.Val270Leu) | gnomAD v4 |
15 | g.74896301dup | CA619413158 | MPI | c.820dup (p.Val274GlyfsTer?) c.637dup (p.Val213GlyfsTer?) c.670dup (p.Val224GlyfsTer?) c.760dup (p.Val254GlyfsTer10) c.256-1238dup (n.256-1238dup) c.820dup (p.Val274GlyfsTer10) c.760dup (p.Val254GlyfsTer?) c.487dup (p.Val163GlyfsTer10) c.820dup (p.Val274GlyfsTer29) n.868dup c.598dup (p.Val200GlyfsTer29) c.808dup (p.Val270GlyfsTer?) c.760dup (p.Val254GlyfsTer29) c.670dup (p.Val224GlyfsTer29) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896302T>A | CA393176080 | MPI | c.821T>A (p.Val274Glu) c.638T>A (p.Val213Glu) c.671T>A (p.Val224Glu) c.761T>A (p.Val254Glu) c.256-1237T>A (n.256-1237T>A) c.488T>A (p.Val163Glu) n.869T>A c.599T>A (p.Val200Glu) c.809T>A (p.Val270Glu) | |
15 | g.74896302T>C | CA393176079 | MPI | c.821T>C (p.Val274Ala) c.638T>C (p.Val213Ala) c.671T>C (p.Val224Ala) c.761T>C (p.Val254Ala) c.256-1237T>C (n.256-1237T>C) c.488T>C (p.Val163Ala) n.869T>C c.599T>C (p.Val200Ala) c.809T>C (p.Val270Ala) | |
15 | g.74896302T>G | CA393176078 | MPI | c.821T>G (p.Val274Gly) c.638T>G (p.Val213Gly) c.671T>G (p.Val224Gly) c.761T>G (p.Val254Gly) c.256-1237T>G (n.256-1237T>G) c.488T>G (p.Val163Gly) n.869T>G c.599T>G (p.Val200Gly) c.809T>G (p.Val270Gly) | |
15 | g.74896303A>C | CA491491450 | MPI | c.822A>C (p.Val274=) c.639A>C (p.Val213=) c.672A>C (p.Val224=) c.762A>C (p.Val254=) c.256-1236A>C (n.256-1236A>C) c.489A>C (p.Val163=) n.870A>C c.600A>C (p.Val200=) c.810A>C (p.Val270=) | |
15 | g.74896303A>G | CA491491451 | MPI | c.822A>G (p.Val274=) c.639A>G (p.Val213=) c.672A>G (p.Val224=) c.762A>G (p.Val254=) c.256-1236A>G (n.256-1236A>G) c.489A>G (p.Val163=) n.870A>G c.600A>G (p.Val200=) c.810A>G (p.Val270=) | |
15 | g.74896303A>T | CA491491452 | MPI | c.822A>T (p.Val274=) c.639A>T (p.Val213=) c.672A>T (p.Val224=) c.762A>T (p.Val254=) c.256-1236A>T (n.256-1236A>T) c.489A>T (p.Val163=) n.870A>T c.600A>T (p.Val200=) c.810A>T (p.Val270=) | |
15 | g.74896303_74896304dup | CA2629530728 | MPI | c.822_823dup (p.Pro275HisfsTer6) c.639_640dup (p.Pro214HisfsTer6) c.672_673dup (p.Pro225HisfsTer6) c.762_763dup (p.Pro255HisfsTer6) c.256-1236_256-1235dup (n.256-1236_256-1235dup) c.489_490dup (p.Pro164HisfsTer6) n.870_871dup c.600_601dup (p.Pro201HisfsTer6) c.810_811dup (p.Pro271HisfsTer6) | gnomAD v4 |
15 | g.74896304C>A | CA393176081 | MPI | c.823C>A (p.Pro275Thr) c.640C>A (p.Pro214Thr) c.673C>A (p.Pro225Thr) c.763C>A (p.Pro255Thr) c.256-1235C>A (n.256-1235C>A) c.490C>A (p.Pro164Thr) n.871C>A c.601C>A (p.Pro201Thr) c.811C>A (p.Pro271Thr) | |
15 | g.74896304C= | CA2187901984 | MPI | c.823C= (p.Pro275=) c.640C= (p.Pro214=) c.673C= (p.Pro225=) c.763C= (p.Pro255=) c.256-1235C= (n.256-1235C=) c.490C= (p.Pro164=) n.871C= c.601C= (p.Pro201=) c.811C= (p.Pro271=) | |
15 | g.74896304C>G | CA393176082 | MPI | c.823C>G (p.Pro275Ala) c.640C>G (p.Pro214Ala) c.673C>G (p.Pro225Ala) c.763C>G (p.Pro255Ala) c.256-1235C>G (n.256-1235C>G) c.490C>G (p.Pro164Ala) n.871C>G c.601C>G (p.Pro201Ala) c.811C>G (p.Pro271Ala) | |
15 | g.74896304C>T | CA7662549 | MPI | c.823C>T (p.Pro275Ser) c.640C>T (p.Pro214Ser) c.673C>T (p.Pro225Ser) c.763C>T (p.Pro255Ser) c.256-1235C>T (n.256-1235C>T) c.490C>T (p.Pro164Ser) n.871C>T c.601C>T (p.Pro201Ser) c.811C>T (p.Pro271Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896305C>A | CA393176083 | MPI | c.824C>A (p.Pro275His) c.641C>A (p.Pro214His) c.674C>A (p.Pro225His) c.764C>A (p.Pro255His) c.256-1234C>A (n.256-1234C>A) c.491C>A (p.Pro164His) n.872C>A c.602C>A (p.Pro201His) c.812C>A (p.Pro271His) | |
15 | g.74896305C>G | CA393176084 | MPI | c.824C>G (p.Pro275Arg) c.641C>G (p.Pro214Arg) c.674C>G (p.Pro225Arg) c.764C>G (p.Pro255Arg) c.256-1234C>G (n.256-1234C>G) c.491C>G (p.Pro164Arg) n.872C>G c.602C>G (p.Pro201Arg) c.812C>G (p.Pro271Arg) | |
15 | g.74896305C>T | CA393176085 | MPI | c.824C>T (p.Pro275Leu) c.641C>T (p.Pro214Leu) c.674C>T (p.Pro225Leu) c.764C>T (p.Pro255Leu) c.256-1234C>T (n.256-1234C>T) c.491C>T (p.Pro164Leu) n.872C>T c.602C>T (p.Pro201Leu) c.812C>T (p.Pro271Leu) | gnomAD v4 |
15 | g.74896306C>A | CA491491453 | MPI | c.825C>A (p.Pro275=) c.642C>A (p.Pro214=) c.675C>A (p.Pro225=) c.765C>A (p.Pro255=) c.256-1233C>A (n.256-1233C>A) c.492C>A (p.Pro164=) n.873C>A c.603C>A (p.Pro201=) c.813C>A (p.Pro271=) | |
15 | g.74896306C>G | CA491491454 | MPI | c.825C>G (p.Pro275=) c.642C>G (p.Pro214=) c.675C>G (p.Pro225=) c.765C>G (p.Pro255=) c.256-1233C>G (n.256-1233C>G) c.492C>G (p.Pro164=) n.873C>G c.603C>G (p.Pro201=) c.813C>G (p.Pro271=) | |
15 | g.74896306C>T | CA491491455 | MPI | c.825C>T (p.Pro275=) c.642C>T (p.Pro214=) c.675C>T (p.Pro225=) c.765C>T (p.Pro255=) c.256-1233C>T (n.256-1233C>T) c.492C>T (p.Pro164=) n.873C>T c.603C>T (p.Pro201=) c.813C>T (p.Pro271=) | gnomAD v4 |
15 | g.74896307C>A | CA393176086 | MPI | c.826C>A (p.His276Asn) c.643C>A (p.His215Asn) c.676C>A (p.His226Asn) c.766C>A (p.His256Asn) c.256-1232C>A (n.256-1232C>A) c.493C>A (p.His165Asn) n.874C>A c.604C>A (p.His202Asn) c.814C>A (p.His272Asn) | |
15 | g.74896307C>G | CA393176088 | MPI | c.826C>G (p.His276Asp) c.643C>G (p.His215Asp) c.676C>G (p.His226Asp) c.766C>G (p.His256Asp) c.256-1232C>G (n.256-1232C>G) c.493C>G (p.His165Asp) n.874C>G c.604C>G (p.His202Asp) c.814C>G (p.His272Asp) | |
15 | g.74896307C>T | CA393176087 | MPI | c.826C>T (p.His276Tyr) c.643C>T (p.His215Tyr) c.676C>T (p.His226Tyr) c.766C>T (p.His256Tyr) c.256-1232C>T (n.256-1232C>T) c.493C>T (p.His165Tyr) n.874C>T c.604C>T (p.His202Tyr) c.814C>T (p.His272Tyr) | |
15 | g.74896308A>C | CA393176089 | MPI | c.827A>C (p.His276Pro) c.644A>C (p.His215Pro) c.677A>C (p.His226Pro) c.767A>C (p.His256Pro) c.256-1231A>C (n.256-1231A>C) c.494A>C (p.His165Pro) n.875A>C c.605A>C (p.His202Pro) c.815A>C (p.His272Pro) | |
15 | g.74896308A>G | CA393176090 | MPI | c.827A>G (p.His276Arg) c.644A>G (p.His215Arg) c.677A>G (p.His226Arg) c.767A>G (p.His256Arg) c.256-1231A>G (n.256-1231A>G) c.494A>G (p.His165Arg) n.875A>G c.605A>G (p.His202Arg) c.815A>G (p.His272Arg) | |
15 | g.74896308A>T | CA393176091 | MPI | c.827A>T (p.His276Leu) c.644A>T (p.His215Leu) c.677A>T (p.His226Leu) c.767A>T (p.His256Leu) c.256-1231A>T (n.256-1231A>T) c.494A>T (p.His165Leu) n.875A>T c.605A>T (p.His202Leu) c.815A>T (p.His272Leu) | |
15 | g.74896309T>A | CA393176092 | MPI | c.828T>A (p.His276Gln) c.645T>A (p.His215Gln) c.678T>A (p.His226Gln) c.768T>A (p.His256Gln) c.256-1230T>A (n.256-1230T>A) c.495T>A (p.His165Gln) n.876T>A c.606T>A (p.His202Gln) c.816T>A (p.His272Gln) | |
15 | g.74896309T>C | CA491491459 | MPI | c.828T>C (p.His276=) c.645T>C (p.His215=) c.678T>C (p.His226=) c.768T>C (p.His256=) c.256-1230T>C (n.256-1230T>C) c.495T>C (p.His165=) n.876T>C c.606T>C (p.His202=) c.816T>C (p.His272=) | |
15 | g.74896309T>G | CA393176093 | MPI | c.828T>G (p.His276Gln) c.645T>G (p.His215Gln) c.678T>G (p.His226Gln) c.768T>G (p.His256Gln) c.256-1230T>G (n.256-1230T>G) c.495T>G (p.His165Gln) n.876T>G c.606T>G (p.His202Gln) c.816T>G (p.His272Gln) | |
15 | g.74896310G>A | CA7662550 | MPI | c.829G>A (p.Ala277Thr) c.646G>A (p.Ala216Thr) c.679G>A (p.Ala227Thr) c.769G>A (p.Ala257Thr) c.256-1229G>A (n.256-1229G>A) c.496G>A (p.Ala166Thr) n.877G>A c.607G>A (p.Ala203Thr) c.817G>A (p.Ala273Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896310G>C | CA393176094 | MPI | c.829G>C (p.Ala277Pro) c.646G>C (p.Ala216Pro) c.679G>C (p.Ala227Pro) c.769G>C (p.Ala257Pro) c.256-1229G>C (n.256-1229G>C) c.496G>C (p.Ala166Pro) n.877G>C c.607G>C (p.Ala203Pro) c.817G>C (p.Ala273Pro) | |
15 | g.74896310G= | CA2187901987 | MPI | c.829G= (p.Ala277=) c.646G= (p.Ala216=) c.679G= (p.Ala227=) c.769G= (p.Ala257=) c.256-1229G= (n.256-1229G=) c.496G= (p.Ala166=) n.877G= c.607G= (p.Ala203=) c.817G= (p.Ala273=) | |
15 | g.74896310G>T | CA393176095 | MPI | c.829G>T (p.Ala277Ser) c.646G>T (p.Ala216Ser) c.679G>T (p.Ala227Ser) c.769G>T (p.Ala257Ser) c.256-1229G>T (n.256-1229G>T) c.496G>T (p.Ala166Ser) n.877G>T c.607G>T (p.Ala203Ser) c.817G>T (p.Ala273Ser) | |
15 | g.74896310_74896312delinsGCC | CA2187901989 | MPI | c.829_831delinsGCC (p.Ala277=) c.646_648delinsGCC (p.Ala216=) c.679_681delinsGCC (p.Ala227=) c.769_771delinsGCC (p.Ala257=) c.256-1229_256-1227delinsGCC (n.256-1229_256-1227delinsGCC) c.496_498delinsGCC (p.Ala166=) n.877_879delinsGCC c.607_609delinsGCC (p.Ala203=) c.817_819delinsGCC (p.Ala273=) | |
15 | g.74896311C>A | CA393176096 | MPI | c.830C>A (p.Ala277Asp) c.647C>A (p.Ala216Asp) c.680C>A (p.Ala227Asp) c.770C>A (p.Ala257Asp) c.256-1228C>A (n.256-1228C>A) c.497C>A (p.Ala166Asp) n.878C>A c.608C>A (p.Ala203Asp) c.818C>A (p.Ala273Asp) | |
15 | g.74896311C>G | CA393176097 | MPI | c.830C>G (p.Ala277Gly) c.647C>G (p.Ala216Gly) c.680C>G (p.Ala227Gly) c.770C>G (p.Ala257Gly) c.256-1228C>G (n.256-1228C>G) c.497C>G (p.Ala166Gly) n.878C>G c.608C>G (p.Ala203Gly) c.818C>G (p.Ala273Gly) | |
15 | g.74896311C>T | CA393176098 | MPI | c.830C>T (p.Ala277Val) c.647C>T (p.Ala216Val) c.680C>T (p.Ala227Val) c.770C>T (p.Ala257Val) c.256-1228C>T (n.256-1228C>T) c.497C>T (p.Ala166Val) n.878C>T c.608C>T (p.Ala203Val) c.818C>T (p.Ala273Val) | |
15 | g.74896311_74896312del | CA619413159 | MPI | c.830_831del (p.Ala277ValfsTer27) c.647_648del (p.Ala216ValfsTer27) c.680_681del (p.Ala227ValfsTer27) c.770_771del (p.Ala257ValfsTer6) c.256-1228_256-1227del (n.256-1228_256-1227del) c.830_831del (p.Ala277ValfsTer6) c.770_771del (p.Ala257ValfsTer27) c.497_498del (p.Ala166ValfsTer6) c.830_831del (p.Ala277ValfsTer25) n.878_879del c.608_609del (p.Ala203ValfsTer25) c.818_819del (p.Ala273ValfsTer27) c.770_771del (p.Ala257ValfsTer25) c.680_681del (p.Ala227ValfsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896312C>A | CA491491461 | MPI | c.831C>A (p.Ala277=) c.648C>A (p.Ala216=) c.681C>A (p.Ala227=) c.771C>A (p.Ala257=) c.256-1227C>A (n.256-1227C>A) c.498C>A (p.Ala166=) n.879C>A c.609C>A (p.Ala203=) c.819C>A (p.Ala273=) | |
15 | g.74896312C>G | CA491491462 | MPI | c.831C>G (p.Ala277=) c.648C>G (p.Ala216=) c.681C>G (p.Ala227=) c.771C>G (p.Ala257=) c.256-1227C>G (n.256-1227C>G) c.498C>G (p.Ala166=) n.879C>G c.609C>G (p.Ala203=) c.819C>G (p.Ala273=) | gnomAD v4 |
15 | g.74896312C>T | CA491491463 | MPI | c.831C>T (p.Ala277=) c.648C>T (p.Ala216=) c.681C>T (p.Ala227=) c.771C>T (p.Ala257=) c.256-1227C>T (n.256-1227C>T) c.498C>T (p.Ala166=) n.879C>T c.609C>T (p.Ala203=) c.819C>T (p.Ala273=) | |
15 | g.74896313T>A | CA393176099 | MPI | c.832T>A (p.Tyr278Asn) c.649T>A (p.Tyr217Asn) c.682T>A (p.Tyr228Asn) c.772T>A (p.Tyr258Asn) c.256-1226T>A (n.256-1226T>A) c.499T>A (p.Tyr167Asn) n.880T>A c.610T>A (p.Tyr204Asn) c.820T>A (p.Tyr274Asn) | |
15 | g.74896313T>C | CA393176101 | MPI | c.832T>C (p.Tyr278His) c.649T>C (p.Tyr217His) c.682T>C (p.Tyr228His) c.772T>C (p.Tyr258His) c.256-1226T>C (n.256-1226T>C) c.499T>C (p.Tyr167His) n.880T>C c.610T>C (p.Tyr204His) c.820T>C (p.Tyr274His) | |
15 | g.74896313T>G | CA393176100 | MPI | c.832T>G (p.Tyr278Asp) c.649T>G (p.Tyr217Asp) c.682T>G (p.Tyr228Asp) c.772T>G (p.Tyr258Asp) c.256-1226T>G (n.256-1226T>G) c.499T>G (p.Tyr167Asp) n.880T>G c.610T>G (p.Tyr204Asp) c.820T>G (p.Tyr274Asp) |