| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 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) |