Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32435969A>C | CA408562677 | ASXL1 | c.3257A>C (p.Glu1086Ala) c.3074A>C (p.Glu1025Ala) n.5610A>C c.1869+1388A>C (n.1869+1388A>C) c.3242A>C (p.Glu1081Ala) c.3254A>C (p.Glu1085Ala) c.3227A>C (p.Glu1076Ala) c.3173A>C (p.Glu1058Ala) c.2573A>C (p.Glu858Ala) c.3521A>C (p.Glu1174Ala) c.3518A>C (p.Glu1173Ala) c.3437A>C (p.Glu1146Ala) c.3368A>C (p.Glu1123Ala) c.3236A>C (p.Glu1079Ala) c.3104A>C (p.Glu1035Ala) | |
20 | g.32435969A>G | CA408562678 | ASXL1 | c.3257A>G (p.Glu1086Gly) c.3074A>G (p.Glu1025Gly) n.5610A>G c.1869+1388A>G (n.1869+1388A>G) c.3242A>G (p.Glu1081Gly) c.3254A>G (p.Glu1085Gly) c.3227A>G (p.Glu1076Gly) c.3173A>G (p.Glu1058Gly) c.2573A>G (p.Glu858Gly) c.3521A>G (p.Glu1174Gly) c.3518A>G (p.Glu1173Gly) c.3437A>G (p.Glu1146Gly) c.3368A>G (p.Glu1123Gly) c.3236A>G (p.Glu1079Gly) c.3104A>G (p.Glu1035Gly) | |
20 | g.32435969A>T | CA408562679 | ASXL1 | c.3257A>T (p.Glu1086Val) c.3074A>T (p.Glu1025Val) n.5610A>T c.1869+1388A>T (n.1869+1388A>T) c.3242A>T (p.Glu1081Val) c.3254A>T (p.Glu1085Val) c.3227A>T (p.Glu1076Val) c.3173A>T (p.Glu1058Val) c.2573A>T (p.Glu858Val) c.3521A>T (p.Glu1174Val) c.3518A>T (p.Glu1173Val) c.3437A>T (p.Glu1146Val) c.3368A>T (p.Glu1123Val) c.3236A>T (p.Glu1079Val) c.3104A>T (p.Glu1035Val) | |
20 | g.32435970G>A | CA510467183 | ASXL1 | c.3258G>A (p.Glu1086=) c.3075G>A (p.Glu1025=) n.5611G>A c.1869+1389G>A (n.1869+1389G>A) c.3243G>A (p.Glu1081=) c.3255G>A (p.Glu1085=) c.3228G>A (p.Glu1076=) c.3174G>A (p.Glu1058=) c.2574G>A (p.Glu858=) c.3522G>A (p.Glu1174=) c.3519G>A (p.Glu1173=) c.3438G>A (p.Glu1146=) c.3369G>A (p.Glu1123=) c.3237G>A (p.Glu1079=) c.3105G>A (p.Glu1035=) | dbSNP |
20 | g.32435970G>C | CA408562680 | ASXL1 | c.3258G>C (p.Glu1086Asp) c.3075G>C (p.Glu1025Asp) n.5611G>C c.1869+1389G>C (n.1869+1389G>C) c.3243G>C (p.Glu1081Asp) c.3255G>C (p.Glu1085Asp) c.3228G>C (p.Glu1076Asp) c.3174G>C (p.Glu1058Asp) c.2574G>C (p.Glu858Asp) c.3522G>C (p.Glu1174Asp) c.3519G>C (p.Glu1173Asp) c.3438G>C (p.Glu1146Asp) c.3369G>C (p.Glu1123Asp) c.3237G>C (p.Glu1079Asp) c.3105G>C (p.Glu1035Asp) | gnomAD v4 |
20 | g.32435970G>T | CA408562681 | ASXL1 | c.3258G>T (p.Glu1086Asp) c.3075G>T (p.Glu1025Asp) n.5611G>T c.1869+1389G>T (n.1869+1389G>T) c.3243G>T (p.Glu1081Asp) c.3255G>T (p.Glu1085Asp) c.3228G>T (p.Glu1076Asp) c.3174G>T (p.Glu1058Asp) c.2574G>T (p.Glu858Asp) c.3522G>T (p.Glu1174Asp) c.3519G>T (p.Glu1173Asp) c.3438G>T (p.Glu1146Asp) c.3369G>T (p.Glu1123Asp) c.3237G>T (p.Glu1079Asp) c.3105G>T (p.Glu1035Asp) | |
20 | g.32435971T>A | CA408562684 | ASXL1 | c.3259T>A (p.Tyr1087Asn) c.3076T>A (p.Tyr1026Asn) n.5612T>A c.1869+1390T>A (n.1869+1390T>A) c.3244T>A (p.Tyr1082Asn) c.3256T>A (p.Tyr1086Asn) c.3229T>A (p.Tyr1077Asn) c.3175T>A (p.Tyr1059Asn) c.2575T>A (p.Tyr859Asn) c.3523T>A (p.Tyr1175Asn) c.3520T>A (p.Tyr1174Asn) c.3439T>A (p.Tyr1147Asn) c.3370T>A (p.Tyr1124Asn) c.3238T>A (p.Tyr1080Asn) c.3106T>A (p.Tyr1036Asn) | |
20 | g.32435971T>C | CA408562683 | ASXL1 | c.3259T>C (p.Tyr1087His) c.3076T>C (p.Tyr1026His) n.5612T>C c.1869+1390T>C (n.1869+1390T>C) c.3244T>C (p.Tyr1082His) c.3256T>C (p.Tyr1086His) c.3229T>C (p.Tyr1077His) c.3175T>C (p.Tyr1059His) c.2575T>C (p.Tyr859His) c.3523T>C (p.Tyr1175His) c.3520T>C (p.Tyr1174His) c.3439T>C (p.Tyr1147His) c.3370T>C (p.Tyr1124His) c.3238T>C (p.Tyr1080His) c.3106T>C (p.Tyr1036His) | COSMIC |
20 | g.32435971T>G | CA408562682 | ASXL1 | c.3259T>G (p.Tyr1087Asp) c.3076T>G (p.Tyr1026Asp) n.5612T>G c.1869+1390T>G (n.1869+1390T>G) c.3244T>G (p.Tyr1082Asp) c.3256T>G (p.Tyr1086Asp) c.3229T>G (p.Tyr1077Asp) c.3175T>G (p.Tyr1059Asp) c.2575T>G (p.Tyr859Asp) c.3523T>G (p.Tyr1175Asp) c.3520T>G (p.Tyr1174Asp) c.3439T>G (p.Tyr1147Asp) c.3370T>G (p.Tyr1124Asp) c.3238T>G (p.Tyr1080Asp) c.3106T>G (p.Tyr1036Asp) | |
20 | g.32435972A= | CA2360293478 | ASXL1 | c.3260A= (p.Tyr1087=) c.3077A= (p.Tyr1026=) n.5613A= c.1869+1391A= (n.1869+1391A=) c.3245A= (p.Tyr1082=) c.3257A= (p.Tyr1086=) c.3230A= (p.Tyr1077=) c.3176A= (p.Tyr1059=) c.2576A= (p.Tyr859=) c.3524A= (p.Tyr1175=) c.3521A= (p.Tyr1174=) c.3440A= (p.Tyr1147=) c.3371A= (p.Tyr1124=) c.3239A= (p.Tyr1080=) c.3107A= (p.Tyr1036=) | |
20 | g.32435972A>C | CA408562687 | ASXL1 | c.3260A>C (p.Tyr1087Ser) c.3077A>C (p.Tyr1026Ser) n.5613A>C c.1869+1391A>C (n.1869+1391A>C) c.3245A>C (p.Tyr1082Ser) c.3257A>C (p.Tyr1086Ser) c.3230A>C (p.Tyr1077Ser) c.3176A>C (p.Tyr1059Ser) c.2576A>C (p.Tyr859Ser) c.3524A>C (p.Tyr1175Ser) c.3521A>C (p.Tyr1174Ser) c.3440A>C (p.Tyr1147Ser) c.3371A>C (p.Tyr1124Ser) c.3239A>C (p.Tyr1080Ser) c.3107A>C (p.Tyr1036Ser) | dbSNP |
20 | g.32435972A>G | CA408562685 | ASXL1 | c.3260A>G (p.Tyr1087Cys) c.3077A>G (p.Tyr1026Cys) n.5613A>G c.1869+1391A>G (n.1869+1391A>G) c.3245A>G (p.Tyr1082Cys) c.3257A>G (p.Tyr1086Cys) c.3230A>G (p.Tyr1077Cys) c.3176A>G (p.Tyr1059Cys) c.2576A>G (p.Tyr859Cys) c.3524A>G (p.Tyr1175Cys) c.3521A>G (p.Tyr1174Cys) c.3440A>G (p.Tyr1147Cys) c.3371A>G (p.Tyr1124Cys) c.3239A>G (p.Tyr1080Cys) c.3107A>G (p.Tyr1036Cys) | |
20 | g.32435972A>T | CA408562686 | ASXL1 | c.3260A>T (p.Tyr1087Phe) c.3077A>T (p.Tyr1026Phe) n.5613A>T c.1869+1391A>T (n.1869+1391A>T) c.3245A>T (p.Tyr1082Phe) c.3257A>T (p.Tyr1086Phe) c.3230A>T (p.Tyr1077Phe) c.3176A>T (p.Tyr1059Phe) c.2576A>T (p.Tyr859Phe) c.3524A>T (p.Tyr1175Phe) c.3521A>T (p.Tyr1174Phe) c.3440A>T (p.Tyr1147Phe) c.3371A>T (p.Tyr1124Phe) c.3239A>T (p.Tyr1080Phe) c.3107A>T (p.Tyr1036Phe) | |
20 | g.32435973C>A | CA408562688 | ASXL1 | c.3261C>A (p.Tyr1087Ter) c.3078C>A (p.Tyr1026Ter) n.5614C>A c.1869+1392C>A (n.1869+1392C>A) c.3246C>A (p.Tyr1082Ter) c.3258C>A (p.Tyr1086Ter) c.3231C>A (p.Tyr1077Ter) c.3177C>A (p.Tyr1059Ter) c.2577C>A (p.Tyr859Ter) c.3525C>A (p.Tyr1175Ter) c.3522C>A (p.Tyr1174Ter) c.3441C>A (p.Tyr1147Ter) c.3372C>A (p.Tyr1124Ter) c.3240C>A (p.Tyr1080Ter) c.3108C>A (p.Tyr1036Ter) | |
20 | g.32435973C>G | CA408562689 | ASXL1 | c.3261C>G (p.Tyr1087Ter) c.3078C>G (p.Tyr1026Ter) n.5614C>G c.1869+1392C>G (n.1869+1392C>G) c.3246C>G (p.Tyr1082Ter) c.3258C>G (p.Tyr1086Ter) c.3231C>G (p.Tyr1077Ter) c.3177C>G (p.Tyr1059Ter) c.2577C>G (p.Tyr859Ter) c.3525C>G (p.Tyr1175Ter) c.3522C>G (p.Tyr1174Ter) c.3441C>G (p.Tyr1147Ter) c.3372C>G (p.Tyr1124Ter) c.3240C>G (p.Tyr1080Ter) c.3108C>G (p.Tyr1036Ter) | |
20 | g.32435973C>T | CA510467187 | ASXL1 | c.3261C>T (p.Tyr1087=) c.3078C>T (p.Tyr1026=) n.5614C>T c.1869+1392C>T (n.1869+1392C>T) c.3246C>T (p.Tyr1082=) c.3258C>T (p.Tyr1086=) c.3231C>T (p.Tyr1077=) c.3177C>T (p.Tyr1059=) c.2577C>T (p.Tyr859=) c.3525C>T (p.Tyr1175=) c.3522C>T (p.Tyr1174=) c.3441C>T (p.Tyr1147=) c.3372C>T (p.Tyr1124=) c.3240C>T (p.Tyr1080=) c.3108C>T (p.Tyr1036=) | dbSNP |
20 | g.32435974C>A | CA408562690 | ASXL1 | c.3262C>A (p.Gln1088Lys) c.3079C>A (p.Gln1027Lys) n.5615C>A c.1869+1393C>A (n.1869+1393C>A) c.3247C>A (p.Gln1083Lys) c.3259C>A (p.Gln1087Lys) c.3232C>A (p.Gln1078Lys) c.3178C>A (p.Gln1060Lys) c.2578C>A (p.Gln860Lys) c.3526C>A (p.Gln1176Lys) c.3523C>A (p.Gln1175Lys) c.3442C>A (p.Gln1148Lys) c.3373C>A (p.Gln1125Lys) c.3241C>A (p.Gln1081Lys) c.3109C>A (p.Gln1037Lys) | |
20 | g.32435974C>G | CA408562691 | ASXL1 | c.3262C>G (p.Gln1088Glu) c.3079C>G (p.Gln1027Glu) n.5615C>G c.1869+1393C>G (n.1869+1393C>G) c.3247C>G (p.Gln1083Glu) c.3259C>G (p.Gln1087Glu) c.3232C>G (p.Gln1078Glu) c.3178C>G (p.Gln1060Glu) c.2578C>G (p.Gln860Glu) c.3526C>G (p.Gln1176Glu) c.3523C>G (p.Gln1175Glu) c.3442C>G (p.Gln1148Glu) c.3373C>G (p.Gln1125Glu) c.3241C>G (p.Gln1081Glu) c.3109C>G (p.Gln1037Glu) | |
20 | g.32435974C>T | CA408562692 | ASXL1 | c.3262C>T (p.Gln1088Ter) c.3079C>T (p.Gln1027Ter) n.5615C>T c.1869+1393C>T (n.1869+1393C>T) c.3247C>T (p.Gln1083Ter) c.3259C>T (p.Gln1087Ter) c.3232C>T (p.Gln1078Ter) c.3178C>T (p.Gln1060Ter) c.2578C>T (p.Gln860Ter) c.3526C>T (p.Gln1176Ter) c.3523C>T (p.Gln1175Ter) c.3442C>T (p.Gln1148Ter) c.3373C>T (p.Gln1125Ter) c.3241C>T (p.Gln1081Ter) c.3109C>T (p.Gln1037Ter) | |
20 | g.32435975A>C | CA408562693 | ASXL1 | c.3263A>C (p.Gln1088Pro) c.3080A>C (p.Gln1027Pro) n.5616A>C c.1869+1394A>C (n.1869+1394A>C) c.3248A>C (p.Gln1083Pro) c.3260A>C (p.Gln1087Pro) c.3233A>C (p.Gln1078Pro) c.3179A>C (p.Gln1060Pro) c.2579A>C (p.Gln860Pro) c.3527A>C (p.Gln1176Pro) c.3524A>C (p.Gln1175Pro) c.3443A>C (p.Gln1148Pro) c.3374A>C (p.Gln1125Pro) c.3242A>C (p.Gln1081Pro) c.3110A>C (p.Gln1037Pro) | |
20 | g.32435975A>G | CA408562694 | ASXL1 | c.3263A>G (p.Gln1088Arg) c.3080A>G (p.Gln1027Arg) n.5616A>G c.1869+1394A>G (n.1869+1394A>G) c.3248A>G (p.Gln1083Arg) c.3260A>G (p.Gln1087Arg) c.3233A>G (p.Gln1078Arg) c.3179A>G (p.Gln1060Arg) c.2579A>G (p.Gln860Arg) c.3527A>G (p.Gln1176Arg) c.3524A>G (p.Gln1175Arg) c.3443A>G (p.Gln1148Arg) c.3374A>G (p.Gln1125Arg) c.3242A>G (p.Gln1081Arg) c.3110A>G (p.Gln1037Arg) | |
20 | g.32435975A>T | CA408562695 | ASXL1 | c.3263A>T (p.Gln1088Leu) c.3080A>T (p.Gln1027Leu) n.5616A>T c.1869+1394A>T (n.1869+1394A>T) c.3248A>T (p.Gln1083Leu) c.3260A>T (p.Gln1087Leu) c.3233A>T (p.Gln1078Leu) c.3179A>T (p.Gln1060Leu) c.2579A>T (p.Gln860Leu) c.3527A>T (p.Gln1176Leu) c.3524A>T (p.Gln1175Leu) c.3443A>T (p.Gln1148Leu) c.3374A>T (p.Gln1125Leu) c.3242A>T (p.Gln1081Leu) c.3110A>T (p.Gln1037Leu) | |
20 | g.32435976G>A | CA510467191 | ASXL1 | c.3264G>A (p.Gln1088=) c.3081G>A (p.Gln1027=) n.5617G>A c.1869+1395G>A (n.1869+1395G>A) c.3249G>A (p.Gln1083=) c.3261G>A (p.Gln1087=) c.3234G>A (p.Gln1078=) c.3180G>A (p.Gln1060=) c.2580G>A (p.Gln860=) c.3528G>A (p.Gln1176=) c.3525G>A (p.Gln1175=) c.3444G>A (p.Gln1148=) c.3375G>A (p.Gln1125=) c.3243G>A (p.Gln1081=) c.3111G>A (p.Gln1037=) | gnomAD v4 |
20 | g.32435976G>C | CA408562696 | ASXL1 | c.3264G>C (p.Gln1088His) c.3081G>C (p.Gln1027His) n.5617G>C c.1869+1395G>C (n.1869+1395G>C) c.3249G>C (p.Gln1083His) c.3261G>C (p.Gln1087His) c.3234G>C (p.Gln1078His) c.3180G>C (p.Gln1060His) c.2580G>C (p.Gln860His) c.3528G>C (p.Gln1176His) c.3525G>C (p.Gln1175His) c.3444G>C (p.Gln1148His) c.3375G>C (p.Gln1125His) c.3243G>C (p.Gln1081His) c.3111G>C (p.Gln1037His) | |
20 | g.32435976G>T | CA408562697 | ASXL1 | c.3264G>T (p.Gln1088His) c.3081G>T (p.Gln1027His) n.5617G>T c.1869+1395G>T (n.1869+1395G>T) c.3249G>T (p.Gln1083His) c.3261G>T (p.Gln1087His) c.3234G>T (p.Gln1078His) c.3180G>T (p.Gln1060His) c.2580G>T (p.Gln860His) c.3528G>T (p.Gln1176His) c.3525G>T (p.Gln1175His) c.3444G>T (p.Gln1148His) c.3375G>T (p.Gln1125His) c.3243G>T (p.Gln1081His) c.3111G>T (p.Gln1037His) | |
20 | g.32435977C>A | CA408562700 | ASXL1 | c.3265C>A (p.Pro1089Thr) c.3082C>A (p.Pro1028Thr) n.5618C>A c.1869+1396C>A (n.1869+1396C>A) c.3250C>A (p.Pro1084Thr) c.3262C>A (p.Pro1088Thr) c.3235C>A (p.Pro1079Thr) c.3181C>A (p.Pro1061Thr) c.2581C>A (p.Pro861Thr) c.3529C>A (p.Pro1177Thr) c.3526C>A (p.Pro1176Thr) c.3445C>A (p.Pro1149Thr) c.3376C>A (p.Pro1126Thr) c.3244C>A (p.Pro1082Thr) c.3112C>A (p.Pro1038Thr) | dbSNP |
20 | g.32435977C= | CA2360293479 | ASXL1 | c.3265C= (p.Pro1089=) c.3082C= (p.Pro1028=) n.5618C= c.1869+1396C= (n.1869+1396C=) c.3250C= (p.Pro1084=) c.3262C= (p.Pro1088=) c.3235C= (p.Pro1079=) c.3181C= (p.Pro1061=) c.2581C= (p.Pro861=) c.3529C= (p.Pro1177=) c.3526C= (p.Pro1176=) c.3445C= (p.Pro1149=) c.3376C= (p.Pro1126=) c.3244C= (p.Pro1082=) c.3112C= (p.Pro1038=) | |
20 | g.32435977C>G | CA408562699 | ASXL1 | c.3265C>G (p.Pro1089Ala) c.3082C>G (p.Pro1028Ala) n.5618C>G c.1869+1396C>G (n.1869+1396C>G) c.3250C>G (p.Pro1084Ala) c.3262C>G (p.Pro1088Ala) c.3235C>G (p.Pro1079Ala) c.3181C>G (p.Pro1061Ala) c.2581C>G (p.Pro861Ala) c.3529C>G (p.Pro1177Ala) c.3526C>G (p.Pro1176Ala) c.3445C>G (p.Pro1149Ala) c.3376C>G (p.Pro1126Ala) c.3244C>G (p.Pro1082Ala) c.3112C>G (p.Pro1038Ala) | ClinVar dbSNP |
20 | g.32435977C>T | CA408562698 | ASXL1 | c.3265C>T (p.Pro1089Ser) c.3082C>T (p.Pro1028Ser) n.5618C>T c.1869+1396C>T (n.1869+1396C>T) c.3250C>T (p.Pro1084Ser) c.3262C>T (p.Pro1088Ser) c.3235C>T (p.Pro1079Ser) c.3181C>T (p.Pro1061Ser) c.2581C>T (p.Pro861Ser) c.3529C>T (p.Pro1177Ser) c.3526C>T (p.Pro1176Ser) c.3445C>T (p.Pro1149Ser) c.3376C>T (p.Pro1126Ser) c.3244C>T (p.Pro1082Ser) c.3112C>T (p.Pro1038Ser) | dbSNP |
20 | g.32435978C>A | CA408562701 | ASXL1 | c.3266C>A (p.Pro1089Gln) c.3083C>A (p.Pro1028Gln) n.5619C>A c.1869+1397C>A (n.1869+1397C>A) c.3251C>A (p.Pro1084Gln) c.3263C>A (p.Pro1088Gln) c.3236C>A (p.Pro1079Gln) c.3182C>A (p.Pro1061Gln) c.2582C>A (p.Pro861Gln) c.3530C>A (p.Pro1177Gln) c.3527C>A (p.Pro1176Gln) c.3446C>A (p.Pro1149Gln) c.3377C>A (p.Pro1126Gln) c.3245C>A (p.Pro1082Gln) c.3113C>A (p.Pro1038Gln) | |
20 | g.32435978C= | CA2360293480 | ASXL1 | c.3266C= (p.Pro1089=) c.3083C= (p.Pro1028=) n.5619C= c.1869+1397C= (n.1869+1397C=) c.3251C= (p.Pro1084=) c.3263C= (p.Pro1088=) c.3236C= (p.Pro1079=) c.3182C= (p.Pro1061=) c.2582C= (p.Pro861=) c.3530C= (p.Pro1177=) c.3527C= (p.Pro1176=) c.3446C= (p.Pro1149=) c.3377C= (p.Pro1126=) c.3245C= (p.Pro1082=) c.3113C= (p.Pro1038=) | |
20 | g.32435978C>G | CA408562702 | ASXL1 | c.3266C>G (p.Pro1089Arg) c.3083C>G (p.Pro1028Arg) n.5619C>G c.1869+1397C>G (n.1869+1397C>G) c.3251C>G (p.Pro1084Arg) c.3263C>G (p.Pro1088Arg) c.3236C>G (p.Pro1079Arg) c.3182C>G (p.Pro1061Arg) c.2582C>G (p.Pro861Arg) c.3530C>G (p.Pro1177Arg) c.3527C>G (p.Pro1176Arg) c.3446C>G (p.Pro1149Arg) c.3377C>G (p.Pro1126Arg) c.3245C>G (p.Pro1082Arg) c.3113C>G (p.Pro1038Arg) | |
20 | g.32435978C>T | CA408562703 | ASXL1 | c.3266C>T (p.Pro1089Leu) c.3083C>T (p.Pro1028Leu) n.5619C>T c.1869+1397C>T (n.1869+1397C>T) c.3251C>T (p.Pro1084Leu) c.3263C>T (p.Pro1088Leu) c.3236C>T (p.Pro1079Leu) c.3182C>T (p.Pro1061Leu) c.2582C>T (p.Pro861Leu) c.3530C>T (p.Pro1177Leu) c.3527C>T (p.Pro1176Leu) c.3446C>T (p.Pro1149Leu) c.3377C>T (p.Pro1126Leu) c.3245C>T (p.Pro1082Leu) c.3113C>T (p.Pro1038Leu) | dbSNP |
20 | g.32435979A>C | CA510467195 | ASXL1 | c.3267A>C (p.Pro1089=) c.3084A>C (p.Pro1028=) n.5620A>C c.1869+1398A>C (n.1869+1398A>C) c.3252A>C (p.Pro1084=) c.3264A>C (p.Pro1088=) c.3237A>C (p.Pro1079=) c.3183A>C (p.Pro1061=) c.2583A>C (p.Pro861=) c.3531A>C (p.Pro1177=) c.3528A>C (p.Pro1176=) c.3447A>C (p.Pro1149=) c.3378A>C (p.Pro1126=) c.3246A>C (p.Pro1082=) c.3114A>C (p.Pro1038=) | |
20 | g.32435979A>G | CA510467196 | ASXL1 | c.3267A>G (p.Pro1089=) c.3084A>G (p.Pro1028=) n.5620A>G c.1869+1398A>G (n.1869+1398A>G) c.3252A>G (p.Pro1084=) c.3264A>G (p.Pro1088=) c.3237A>G (p.Pro1079=) c.3183A>G (p.Pro1061=) c.2583A>G (p.Pro861=) c.3531A>G (p.Pro1177=) c.3528A>G (p.Pro1176=) c.3447A>G (p.Pro1149=) c.3378A>G (p.Pro1126=) c.3246A>G (p.Pro1082=) c.3114A>G (p.Pro1038=) | gnomAD v4 |
20 | g.32435979A>T | CA510467198 | ASXL1 | c.3267A>T (p.Pro1089=) c.3084A>T (p.Pro1028=) n.5620A>T c.1869+1398A>T (n.1869+1398A>T) c.3252A>T (p.Pro1084=) c.3264A>T (p.Pro1088=) c.3237A>T (p.Pro1079=) c.3183A>T (p.Pro1061=) c.2583A>T (p.Pro861=) c.3531A>T (p.Pro1177=) c.3528A>T (p.Pro1176=) c.3447A>T (p.Pro1149=) c.3378A>T (p.Pro1126=) c.3246A>T (p.Pro1082=) c.3114A>T (p.Pro1038=) | |
20 | g.32435980A= | CA2360293481 | ASXL1 | c.3268A= (p.Arg1090=) c.3085A= (p.Arg1029=) n.5621A= c.1869+1399A= (n.1869+1399A=) c.3253A= (p.Arg1085=) c.3265A= (p.Arg1089=) c.3238A= (p.Arg1080=) c.3184A= (p.Arg1062=) c.2584A= (p.Arg862=) c.3532A= (p.Arg1178=) c.3529A= (p.Arg1177=) c.3448A= (p.Arg1150=) c.3379A= (p.Arg1127=) c.3247A= (p.Arg1083=) c.3115A= (p.Arg1039=) | |
20 | g.32435980A>C | CA510467199 | ASXL1 | c.3268A>C (p.Arg1090=) c.3085A>C (p.Arg1029=) n.5621A>C c.1869+1399A>C (n.1869+1399A>C) c.3253A>C (p.Arg1085=) c.3265A>C (p.Arg1089=) c.3238A>C (p.Arg1080=) c.3184A>C (p.Arg1062=) c.2584A>C (p.Arg862=) c.3532A>C (p.Arg1178=) c.3529A>C (p.Arg1177=) c.3448A>C (p.Arg1150=) c.3379A>C (p.Arg1127=) c.3247A>C (p.Arg1083=) c.3115A>C (p.Arg1039=) | gnomAD v4 |
20 | g.32435980A>G | CA408562704 | ASXL1 | c.3268A>G (p.Arg1090Gly) c.3085A>G (p.Arg1029Gly) n.5621A>G c.1869+1399A>G (n.1869+1399A>G) c.3253A>G (p.Arg1085Gly) c.3265A>G (p.Arg1089Gly) c.3238A>G (p.Arg1080Gly) c.3184A>G (p.Arg1062Gly) c.2584A>G (p.Arg862Gly) c.3532A>G (p.Arg1178Gly) c.3529A>G (p.Arg1177Gly) c.3448A>G (p.Arg1150Gly) c.3379A>G (p.Arg1127Gly) c.3247A>G (p.Arg1083Gly) c.3115A>G (p.Arg1039Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435980A>T | CA408562705 | ASXL1 | c.3268A>T (p.Arg1090Ter) c.3085A>T (p.Arg1029Ter) n.5621A>T c.1869+1399A>T (n.1869+1399A>T) c.3253A>T (p.Arg1085Ter) c.3265A>T (p.Arg1089Ter) c.3238A>T (p.Arg1080Ter) c.3184A>T (p.Arg1062Ter) c.2584A>T (p.Arg862Ter) c.3532A>T (p.Arg1178Ter) c.3529A>T (p.Arg1177Ter) c.3448A>T (p.Arg1150Ter) c.3379A>T (p.Arg1127Ter) c.3247A>T (p.Arg1083Ter) c.3115A>T (p.Arg1039Ter) | |
20 | g.32435981G>A | CA408562706 | ASXL1 | c.3269G>A (p.Arg1090Lys) c.3086G>A (p.Arg1029Lys) n.5622G>A c.1869+1400G>A (n.1869+1400G>A) c.3254G>A (p.Arg1085Lys) c.3266G>A (p.Arg1089Lys) c.3239G>A (p.Arg1080Lys) c.3185G>A (p.Arg1062Lys) c.2585G>A (p.Arg862Lys) c.3533G>A (p.Arg1178Lys) c.3530G>A (p.Arg1177Lys) c.3449G>A (p.Arg1150Lys) c.3380G>A (p.Arg1127Lys) c.3248G>A (p.Arg1083Lys) c.3116G>A (p.Arg1039Lys) | |
20 | g.32435981G>C | CA408562707 | ASXL1 | c.3269G>C (p.Arg1090Thr) c.3086G>C (p.Arg1029Thr) n.5622G>C c.1869+1400G>C (n.1869+1400G>C) c.3254G>C (p.Arg1085Thr) c.3266G>C (p.Arg1089Thr) c.3239G>C (p.Arg1080Thr) c.3185G>C (p.Arg1062Thr) c.2585G>C (p.Arg862Thr) c.3533G>C (p.Arg1178Thr) c.3530G>C (p.Arg1177Thr) c.3449G>C (p.Arg1150Thr) c.3380G>C (p.Arg1127Thr) c.3248G>C (p.Arg1083Thr) c.3116G>C (p.Arg1039Thr) | COSMIC COSMIC |
20 | g.32435981G>T | CA408562708 | ASXL1 | c.3269G>T (p.Arg1090Ile) c.3086G>T (p.Arg1029Ile) n.5622G>T c.1869+1400G>T (n.1869+1400G>T) c.3254G>T (p.Arg1085Ile) c.3266G>T (p.Arg1089Ile) c.3239G>T (p.Arg1080Ile) c.3185G>T (p.Arg1062Ile) c.2585G>T (p.Arg862Ile) c.3533G>T (p.Arg1178Ile) c.3530G>T (p.Arg1177Ile) c.3449G>T (p.Arg1150Ile) c.3380G>T (p.Arg1127Ile) c.3248G>T (p.Arg1083Ile) c.3116G>T (p.Arg1039Ile) | |
20 | g.32435982A>C | CA408562709 | ASXL1 | c.3270A>C (p.Arg1090Ser) c.3087A>C (p.Arg1029Ser) n.5623A>C c.1869+1401A>C (n.1869+1401A>C) c.3255A>C (p.Arg1085Ser) c.3267A>C (p.Arg1089Ser) c.3240A>C (p.Arg1080Ser) c.3186A>C (p.Arg1062Ser) c.2586A>C (p.Arg862Ser) c.3534A>C (p.Arg1178Ser) c.3531A>C (p.Arg1177Ser) c.3450A>C (p.Arg1150Ser) c.3381A>C (p.Arg1127Ser) c.3249A>C (p.Arg1083Ser) c.3117A>C (p.Arg1039Ser) | |
20 | g.32435982A>G | CA510467200 | ASXL1 | c.3270A>G (p.Arg1090=) c.3087A>G (p.Arg1029=) n.5623A>G c.1869+1401A>G (n.1869+1401A>G) c.3255A>G (p.Arg1085=) c.3267A>G (p.Arg1089=) c.3240A>G (p.Arg1080=) c.3186A>G (p.Arg1062=) c.2586A>G (p.Arg862=) c.3534A>G (p.Arg1178=) c.3531A>G (p.Arg1177=) c.3450A>G (p.Arg1150=) c.3381A>G (p.Arg1127=) c.3249A>G (p.Arg1083=) c.3117A>G (p.Arg1039=) | |
20 | g.32435982A>T | CA408562710 | ASXL1 | c.3270A>T (p.Arg1090Ser) c.3087A>T (p.Arg1029Ser) n.5623A>T c.1869+1401A>T (n.1869+1401A>T) c.3255A>T (p.Arg1085Ser) c.3267A>T (p.Arg1089Ser) c.3240A>T (p.Arg1080Ser) c.3186A>T (p.Arg1062Ser) c.2586A>T (p.Arg862Ser) c.3534A>T (p.Arg1178Ser) c.3531A>T (p.Arg1177Ser) c.3450A>T (p.Arg1150Ser) c.3381A>T (p.Arg1127Ser) c.3249A>T (p.Arg1083Ser) c.3117A>T (p.Arg1039Ser) | |
20 | g.32435983G>A | CA408562711 | ASXL1 | c.3271G>A (p.Ala1091Thr) c.3088G>A (p.Ala1030Thr) n.5624G>A c.1869+1402G>A (n.1869+1402G>A) c.3256G>A (p.Ala1086Thr) c.3268G>A (p.Ala1090Thr) c.3241G>A (p.Ala1081Thr) c.3187G>A (p.Ala1063Thr) c.2587G>A (p.Ala863Thr) c.3535G>A (p.Ala1179Thr) c.3532G>A (p.Ala1178Thr) c.3451G>A (p.Ala1151Thr) c.3382G>A (p.Ala1128Thr) c.3250G>A (p.Ala1084Thr) c.3118G>A (p.Ala1040Thr) | ClinVar dbSNP gnomAD v4 |
20 | g.32435983G>C | CA408562712 | ASXL1 | c.3271G>C (p.Ala1091Pro) c.3088G>C (p.Ala1030Pro) n.5624G>C c.1869+1402G>C (n.1869+1402G>C) c.3256G>C (p.Ala1086Pro) c.3268G>C (p.Ala1090Pro) c.3241G>C (p.Ala1081Pro) c.3187G>C (p.Ala1063Pro) c.2587G>C (p.Ala863Pro) c.3535G>C (p.Ala1179Pro) c.3532G>C (p.Ala1178Pro) c.3451G>C (p.Ala1151Pro) c.3382G>C (p.Ala1128Pro) c.3250G>C (p.Ala1084Pro) c.3118G>C (p.Ala1040Pro) | dbSNP |
20 | g.32435983G= | CA2360293482 | ASXL1 | c.3271G= (p.Ala1091=) c.3088G= (p.Ala1030=) n.5624G= c.1869+1402G= (n.1869+1402G=) c.3256G= (p.Ala1086=) c.3268G= (p.Ala1090=) c.3241G= (p.Ala1081=) c.3187G= (p.Ala1063=) c.2587G= (p.Ala863=) c.3535G= (p.Ala1179=) c.3532G= (p.Ala1178=) c.3451G= (p.Ala1151=) c.3382G= (p.Ala1128=) c.3250G= (p.Ala1084=) c.3118G= (p.Ala1040=) | |
20 | g.32435983G>T | CA408562713 | ASXL1 | c.3271G>T (p.Ala1091Ser) c.3088G>T (p.Ala1030Ser) n.5624G>T c.1869+1402G>T (n.1869+1402G>T) c.3256G>T (p.Ala1086Ser) c.3268G>T (p.Ala1090Ser) c.3241G>T (p.Ala1081Ser) c.3187G>T (p.Ala1063Ser) c.2587G>T (p.Ala863Ser) c.3535G>T (p.Ala1179Ser) c.3532G>T (p.Ala1178Ser) c.3451G>T (p.Ala1151Ser) c.3382G>T (p.Ala1128Ser) c.3250G>T (p.Ala1084Ser) c.3118G>T (p.Ala1040Ser) | |
20 | g.32435984C>A | CA408562715 | ASXL1 | c.3272C>A (p.Ala1091Asp) c.3089C>A (p.Ala1030Asp) n.5625C>A c.1869+1403C>A (n.1869+1403C>A) c.3257C>A (p.Ala1086Asp) c.3269C>A (p.Ala1090Asp) c.3242C>A (p.Ala1081Asp) c.3188C>A (p.Ala1063Asp) c.2588C>A (p.Ala863Asp) c.3536C>A (p.Ala1179Asp) c.3533C>A (p.Ala1178Asp) c.3452C>A (p.Ala1151Asp) c.3383C>A (p.Ala1128Asp) c.3251C>A (p.Ala1084Asp) c.3119C>A (p.Ala1040Asp) | |
20 | g.32435984C>G | CA408562716 | ASXL1 | c.3272C>G (p.Ala1091Gly) c.3089C>G (p.Ala1030Gly) n.5625C>G c.1869+1403C>G (n.1869+1403C>G) c.3257C>G (p.Ala1086Gly) c.3269C>G (p.Ala1090Gly) c.3242C>G (p.Ala1081Gly) c.3188C>G (p.Ala1063Gly) c.2588C>G (p.Ala863Gly) c.3536C>G (p.Ala1179Gly) c.3533C>G (p.Ala1178Gly) c.3452C>G (p.Ala1151Gly) c.3383C>G (p.Ala1128Gly) c.3251C>G (p.Ala1084Gly) c.3119C>G (p.Ala1040Gly) | |
20 | g.32435984C>T | CA408562714 | ASXL1 | c.3272C>T (p.Ala1091Val) c.3089C>T (p.Ala1030Val) n.5625C>T c.1869+1403C>T (n.1869+1403C>T) c.3257C>T (p.Ala1086Val) c.3269C>T (p.Ala1090Val) c.3242C>T (p.Ala1081Val) c.3188C>T (p.Ala1063Val) c.2588C>T (p.Ala863Val) c.3536C>T (p.Ala1179Val) c.3533C>T (p.Ala1178Val) c.3452C>T (p.Ala1151Val) c.3383C>T (p.Ala1128Val) c.3251C>T (p.Ala1084Val) c.3119C>T (p.Ala1040Val) | |
20 | g.32435985C>A | CA510467202 | ASXL1 | c.3273C>A (p.Ala1091=) c.3090C>A (p.Ala1030=) n.5626C>A c.1869+1404C>A (n.1869+1404C>A) c.3258C>A (p.Ala1086=) c.3270C>A (p.Ala1090=) c.3243C>A (p.Ala1081=) c.3189C>A (p.Ala1063=) c.2589C>A (p.Ala863=) c.3537C>A (p.Ala1179=) c.3534C>A (p.Ala1178=) c.3453C>A (p.Ala1151=) c.3384C>A (p.Ala1128=) c.3252C>A (p.Ala1084=) c.3120C>A (p.Ala1040=) | |
20 | g.32435985C= | CA2360293483 | ASXL1 | c.3273C= (p.Ala1091=) c.3090C= (p.Ala1030=) n.5626C= c.1869+1404C= (n.1869+1404C=) c.3258C= (p.Ala1086=) c.3270C= (p.Ala1090=) c.3243C= (p.Ala1081=) c.3189C= (p.Ala1063=) c.2589C= (p.Ala863=) c.3537C= (p.Ala1179=) c.3534C= (p.Ala1178=) c.3453C= (p.Ala1151=) c.3384C= (p.Ala1128=) c.3252C= (p.Ala1084=) c.3120C= (p.Ala1040=) | |
20 | g.32435985C>G | CA510467203 | ASXL1 | c.3273C>G (p.Ala1091=) c.3090C>G (p.Ala1030=) n.5626C>G c.1869+1404C>G (n.1869+1404C>G) c.3258C>G (p.Ala1086=) c.3270C>G (p.Ala1090=) c.3243C>G (p.Ala1081=) c.3189C>G (p.Ala1063=) c.2589C>G (p.Ala863=) c.3537C>G (p.Ala1179=) c.3534C>G (p.Ala1178=) c.3453C>G (p.Ala1151=) c.3384C>G (p.Ala1128=) c.3252C>G (p.Ala1084=) c.3120C>G (p.Ala1040=) | |
20 | g.32435985C>T | CA9808785 | ASXL1 | c.3273C>T (p.Ala1091=) c.3090C>T (p.Ala1030=) n.5626C>T c.1869+1404C>T (n.1869+1404C>T) c.3258C>T (p.Ala1086=) c.3270C>T (p.Ala1090=) c.3243C>T (p.Ala1081=) c.3189C>T (p.Ala1063=) c.2589C>T (p.Ala863=) c.3537C>T (p.Ala1179=) c.3534C>T (p.Ala1178=) c.3453C>T (p.Ala1151=) c.3384C>T (p.Ala1128=) c.3252C>T (p.Ala1084=) c.3120C>T (p.Ala1040=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435986G>A | CA9808786 | ASXL1 | c.3274G>A (p.Val1092Met) c.3091G>A (p.Val1031Met) n.5627G>A c.1869+1405G>A (n.1869+1405G>A) c.3259G>A (p.Val1087Met) c.3271G>A (p.Val1091Met) c.3244G>A (p.Val1082Met) c.3190G>A (p.Val1064Met) c.2590G>A (p.Val864Met) c.3538G>A (p.Val1180Met) c.3535G>A (p.Val1179Met) c.3454G>A (p.Val1152Met) c.3385G>A (p.Val1129Met) c.3253G>A (p.Val1085Met) c.3121G>A (p.Val1041Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435986G>C | CA408562717 | ASXL1 | c.3274G>C (p.Val1092Leu) c.3091G>C (p.Val1031Leu) n.5627G>C c.1869+1405G>C (n.1869+1405G>C) c.3259G>C (p.Val1087Leu) c.3271G>C (p.Val1091Leu) c.3244G>C (p.Val1082Leu) c.3190G>C (p.Val1064Leu) c.2590G>C (p.Val864Leu) c.3538G>C (p.Val1180Leu) c.3535G>C (p.Val1179Leu) c.3454G>C (p.Val1152Leu) c.3385G>C (p.Val1129Leu) c.3253G>C (p.Val1085Leu) c.3121G>C (p.Val1041Leu) | |
20 | g.32435986G= | CA2360293484 | ASXL1 | c.3274G= (p.Val1092=) c.3091G= (p.Val1031=) n.5627G= c.1869+1405G= (n.1869+1405G=) c.3259G= (p.Val1087=) c.3271G= (p.Val1091=) c.3244G= (p.Val1082=) c.3190G= (p.Val1064=) c.2590G= (p.Val864=) c.3538G= (p.Val1180=) c.3535G= (p.Val1179=) c.3454G= (p.Val1152=) c.3385G= (p.Val1129=) c.3253G= (p.Val1085=) c.3121G= (p.Val1041=) | |
20 | g.32435986G>T | CA408562718 | ASXL1 | c.3274G>T (p.Val1092Leu) c.3091G>T (p.Val1031Leu) n.5627G>T c.1869+1405G>T (n.1869+1405G>T) c.3259G>T (p.Val1087Leu) c.3271G>T (p.Val1091Leu) c.3244G>T (p.Val1082Leu) c.3190G>T (p.Val1064Leu) c.2590G>T (p.Val864Leu) c.3538G>T (p.Val1180Leu) c.3535G>T (p.Val1179Leu) c.3454G>T (p.Val1152Leu) c.3385G>T (p.Val1129Leu) c.3253G>T (p.Val1085Leu) c.3121G>T (p.Val1041Leu) | gnomAD v4 |
20 | g.32435987T>A | CA408562719 | ASXL1 | c.3275T>A (p.Val1092Glu) c.3092T>A (p.Val1031Glu) n.5628T>A c.1869+1406T>A (n.1869+1406T>A) c.3260T>A (p.Val1087Glu) c.3272T>A (p.Val1091Glu) c.3245T>A (p.Val1082Glu) c.3191T>A (p.Val1064Glu) c.2591T>A (p.Val864Glu) c.3539T>A (p.Val1180Glu) c.3536T>A (p.Val1179Glu) c.3455T>A (p.Val1152Glu) c.3386T>A (p.Val1129Glu) c.3254T>A (p.Val1085Glu) c.3122T>A (p.Val1041Glu) | |
20 | g.32435987T>C | CA408562720 | ASXL1 | c.3275T>C (p.Val1092Ala) c.3092T>C (p.Val1031Ala) n.5628T>C c.1869+1406T>C (n.1869+1406T>C) c.3260T>C (p.Val1087Ala) c.3272T>C (p.Val1091Ala) c.3245T>C (p.Val1082Ala) c.3191T>C (p.Val1064Ala) c.2591T>C (p.Val864Ala) c.3539T>C (p.Val1180Ala) c.3536T>C (p.Val1179Ala) c.3455T>C (p.Val1152Ala) c.3386T>C (p.Val1129Ala) c.3254T>C (p.Val1085Ala) c.3122T>C (p.Val1041Ala) | |
20 | g.32435987T>G | CA408562721 | ASXL1 | c.3275T>G (p.Val1092Gly) c.3092T>G (p.Val1031Gly) n.5628T>G c.1869+1406T>G (n.1869+1406T>G) c.3260T>G (p.Val1087Gly) c.3272T>G (p.Val1091Gly) c.3245T>G (p.Val1082Gly) c.3191T>G (p.Val1064Gly) c.2591T>G (p.Val864Gly) c.3539T>G (p.Val1180Gly) c.3536T>G (p.Val1179Gly) c.3455T>G (p.Val1152Gly) c.3386T>G (p.Val1129Gly) c.3254T>G (p.Val1085Gly) c.3122T>G (p.Val1041Gly) | |
20 | g.32435988G>A | CA510467210 | ASXL1 | c.3276G>A (p.Val1092=) c.3093G>A (p.Val1031=) n.5629G>A c.1869+1407G>A (n.1869+1407G>A) c.3261G>A (p.Val1087=) c.3273G>A (p.Val1091=) c.3246G>A (p.Val1082=) c.3192G>A (p.Val1064=) c.2592G>A (p.Val864=) c.3540G>A (p.Val1180=) c.3537G>A (p.Val1179=) c.3456G>A (p.Val1152=) c.3387G>A (p.Val1129=) c.3255G>A (p.Val1085=) c.3123G>A (p.Val1041=) | |
20 | g.32435988G>C | CA510467209 | ASXL1 | c.3276G>C (p.Val1092=) c.3093G>C (p.Val1031=) n.5629G>C c.1869+1407G>C (n.1869+1407G>C) c.3261G>C (p.Val1087=) c.3273G>C (p.Val1091=) c.3246G>C (p.Val1082=) c.3192G>C (p.Val1064=) c.2592G>C (p.Val864=) c.3540G>C (p.Val1180=) c.3537G>C (p.Val1179=) c.3456G>C (p.Val1152=) c.3387G>C (p.Val1129=) c.3255G>C (p.Val1085=) c.3123G>C (p.Val1041=) | |
20 | g.32435988G>T | CA510467208 | ASXL1 | c.3276G>T (p.Val1092=) c.3093G>T (p.Val1031=) n.5629G>T c.1869+1407G>T (n.1869+1407G>T) c.3261G>T (p.Val1087=) c.3273G>T (p.Val1091=) c.3246G>T (p.Val1082=) c.3192G>T (p.Val1064=) c.2592G>T (p.Val864=) c.3540G>T (p.Val1180=) c.3537G>T (p.Val1179=) c.3456G>T (p.Val1152=) c.3387G>T (p.Val1129=) c.3255G>T (p.Val1085=) c.3123G>T (p.Val1041=) | |
20 | g.32435989T>A | CA408562722 | ASXL1 | c.3277T>A (p.Cys1093Ser) c.3094T>A (p.Cys1032Ser) n.5630T>A c.1869+1408T>A (n.1869+1408T>A) c.3262T>A (p.Cys1088Ser) c.3274T>A (p.Cys1092Ser) c.3247T>A (p.Cys1083Ser) c.3193T>A (p.Cys1065Ser) c.2593T>A (p.Cys865Ser) c.3541T>A (p.Cys1181Ser) c.3538T>A (p.Cys1180Ser) c.3457T>A (p.Cys1153Ser) c.3388T>A (p.Cys1130Ser) c.3256T>A (p.Cys1086Ser) c.3124T>A (p.Cys1042Ser) | |
20 | g.32435989T>C | CA408562723 | ASXL1 | c.3277T>C (p.Cys1093Arg) c.3094T>C (p.Cys1032Arg) n.5630T>C c.1869+1408T>C (n.1869+1408T>C) c.3262T>C (p.Cys1088Arg) c.3274T>C (p.Cys1092Arg) c.3247T>C (p.Cys1083Arg) c.3193T>C (p.Cys1065Arg) c.2593T>C (p.Cys865Arg) c.3541T>C (p.Cys1181Arg) c.3538T>C (p.Cys1180Arg) c.3457T>C (p.Cys1153Arg) c.3388T>C (p.Cys1130Arg) c.3256T>C (p.Cys1086Arg) c.3124T>C (p.Cys1042Arg) | |
20 | g.32435989T>G | CA408562724 | ASXL1 | c.3277T>G (p.Cys1093Gly) c.3094T>G (p.Cys1032Gly) n.5630T>G c.1869+1408T>G (n.1869+1408T>G) c.3262T>G (p.Cys1088Gly) c.3274T>G (p.Cys1092Gly) c.3247T>G (p.Cys1083Gly) c.3193T>G (p.Cys1065Gly) c.2593T>G (p.Cys865Gly) c.3541T>G (p.Cys1181Gly) c.3538T>G (p.Cys1180Gly) c.3457T>G (p.Cys1153Gly) c.3388T>G (p.Cys1130Gly) c.3256T>G (p.Cys1086Gly) c.3124T>G (p.Cys1042Gly) | |
20 | g.32435990G>A | CA408562725 | ASXL1 | c.3278G>A (p.Cys1093Tyr) c.3095G>A (p.Cys1032Tyr) n.5631G>A c.1869+1409G>A (n.1869+1409G>A) c.3263G>A (p.Cys1088Tyr) c.3275G>A (p.Cys1092Tyr) c.3248G>A (p.Cys1083Tyr) c.3194G>A (p.Cys1065Tyr) c.2594G>A (p.Cys865Tyr) c.3542G>A (p.Cys1181Tyr) c.3539G>A (p.Cys1180Tyr) c.3458G>A (p.Cys1153Tyr) c.3389G>A (p.Cys1130Tyr) c.3257G>A (p.Cys1086Tyr) c.3125G>A (p.Cys1042Tyr) | dbSNP gnomAD v4 |
20 | g.32435990G>C | CA408562726 | ASXL1 | c.3278G>C (p.Cys1093Ser) c.3095G>C (p.Cys1032Ser) n.5631G>C c.1869+1409G>C (n.1869+1409G>C) c.3263G>C (p.Cys1088Ser) c.3275G>C (p.Cys1092Ser) c.3248G>C (p.Cys1083Ser) c.3194G>C (p.Cys1065Ser) c.2594G>C (p.Cys865Ser) c.3542G>C (p.Cys1181Ser) c.3539G>C (p.Cys1180Ser) c.3458G>C (p.Cys1153Ser) c.3389G>C (p.Cys1130Ser) c.3257G>C (p.Cys1086Ser) c.3125G>C (p.Cys1042Ser) | |
20 | g.32435990G>T | CA408562727 | ASXL1 | c.3278G>T (p.Cys1093Phe) c.3095G>T (p.Cys1032Phe) n.5631G>T c.1869+1409G>T (n.1869+1409G>T) c.3263G>T (p.Cys1088Phe) c.3275G>T (p.Cys1092Phe) c.3248G>T (p.Cys1083Phe) c.3194G>T (p.Cys1065Phe) c.2594G>T (p.Cys865Phe) c.3542G>T (p.Cys1181Phe) c.3539G>T (p.Cys1180Phe) c.3458G>T (p.Cys1153Phe) c.3389G>T (p.Cys1130Phe) c.3257G>T (p.Cys1086Phe) c.3125G>T (p.Cys1042Phe) | |
20 | g.32435991C>A | CA408562728 | ASXL1 | c.3279C>A (p.Cys1093Ter) c.3096C>A (p.Cys1032Ter) n.5632C>A c.1869+1410C>A (n.1869+1410C>A) c.3264C>A (p.Cys1088Ter) c.3276C>A (p.Cys1092Ter) c.3249C>A (p.Cys1083Ter) c.3195C>A (p.Cys1065Ter) c.2595C>A (p.Cys865Ter) c.3543C>A (p.Cys1181Ter) c.3540C>A (p.Cys1180Ter) c.3459C>A (p.Cys1153Ter) c.3390C>A (p.Cys1130Ter) c.3258C>A (p.Cys1086Ter) c.3126C>A (p.Cys1042Ter) | dbSNP |
20 | g.32435991C>G | CA408562729 | ASXL1 | c.3279C>G (p.Cys1093Trp) c.3096C>G (p.Cys1032Trp) n.5632C>G c.1869+1410C>G (n.1869+1410C>G) c.3264C>G (p.Cys1088Trp) c.3276C>G (p.Cys1092Trp) c.3249C>G (p.Cys1083Trp) c.3195C>G (p.Cys1065Trp) c.2595C>G (p.Cys865Trp) c.3543C>G (p.Cys1181Trp) c.3540C>G (p.Cys1180Trp) c.3459C>G (p.Cys1153Trp) c.3390C>G (p.Cys1130Trp) c.3258C>G (p.Cys1086Trp) c.3126C>G (p.Cys1042Trp) | |
20 | g.32435991C>T | CA510467211 | ASXL1 | c.3279C>T (p.Cys1093=) c.3096C>T (p.Cys1032=) n.5632C>T c.1869+1410C>T (n.1869+1410C>T) c.3264C>T (p.Cys1088=) c.3276C>T (p.Cys1092=) c.3249C>T (p.Cys1083=) c.3195C>T (p.Cys1065=) c.2595C>T (p.Cys865=) c.3543C>T (p.Cys1181=) c.3540C>T (p.Cys1180=) c.3459C>T (p.Cys1153=) c.3390C>T (p.Cys1130=) c.3258C>T (p.Cys1086=) c.3126C>T (p.Cys1042=) | ClinVar dbSNP gnomAD v4 |
20 | g.32435992C>A | CA408562731 | ASXL1 | c.3280C>A (p.Leu1094Met) c.3097C>A (p.Leu1033Met) n.5633C>A c.1869+1411C>A (n.1869+1411C>A) c.3265C>A (p.Leu1089Met) c.3277C>A (p.Leu1093Met) c.3250C>A (p.Leu1084Met) c.3196C>A (p.Leu1066Met) c.2596C>A (p.Leu866Met) c.3544C>A (p.Leu1182Met) c.3541C>A (p.Leu1181Met) c.3460C>A (p.Leu1154Met) c.3391C>A (p.Leu1131Met) c.3259C>A (p.Leu1087Met) c.3127C>A (p.Leu1043Met) | |
20 | g.32435992C= | CA2360293485 | ASXL1 | c.3280C= (p.Leu1094=) c.3097C= (p.Leu1033=) n.5633C= c.1869+1411C= (n.1869+1411C=) c.3265C= (p.Leu1089=) c.3277C= (p.Leu1093=) c.3250C= (p.Leu1084=) c.3196C= (p.Leu1066=) c.2596C= (p.Leu866=) c.3544C= (p.Leu1182=) c.3541C= (p.Leu1181=) c.3460C= (p.Leu1154=) c.3391C= (p.Leu1131=) c.3259C= (p.Leu1087=) c.3127C= (p.Leu1043=) | |
20 | g.32435992C>G | CA408562730 | ASXL1 | c.3280C>G (p.Leu1094Val) c.3097C>G (p.Leu1033Val) n.5633C>G c.1869+1411C>G (n.1869+1411C>G) c.3265C>G (p.Leu1089Val) c.3277C>G (p.Leu1093Val) c.3250C>G (p.Leu1084Val) c.3196C>G (p.Leu1066Val) c.2596C>G (p.Leu866Val) c.3544C>G (p.Leu1182Val) c.3541C>G (p.Leu1181Val) c.3460C>G (p.Leu1154Val) c.3391C>G (p.Leu1131Val) c.3259C>G (p.Leu1087Val) c.3127C>G (p.Leu1043Val) | dbSNP gnomAD v4 |
20 | g.32435992C>T | CA9808787 | ASXL1 | c.3280C>T (p.Leu1094=) c.3097C>T (p.Leu1033=) n.5633C>T c.1869+1411C>T (n.1869+1411C>T) c.3265C>T (p.Leu1089=) c.3277C>T (p.Leu1093=) c.3250C>T (p.Leu1084=) c.3196C>T (p.Leu1066=) c.2596C>T (p.Leu866=) c.3544C>T (p.Leu1182=) c.3541C>T (p.Leu1181=) c.3460C>T (p.Leu1154=) c.3391C>T (p.Leu1131=) c.3259C>T (p.Leu1087=) c.3127C>T (p.Leu1043=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435993T>A | CA408562732 | ASXL1 | c.3281T>A (p.Leu1094Gln) c.3098T>A (p.Leu1033Gln) n.5634T>A c.1869+1412T>A (n.1869+1412T>A) c.3266T>A (p.Leu1089Gln) c.3278T>A (p.Leu1093Gln) c.3251T>A (p.Leu1084Gln) c.3197T>A (p.Leu1066Gln) c.2597T>A (p.Leu866Gln) c.3545T>A (p.Leu1182Gln) c.3542T>A (p.Leu1181Gln) c.3461T>A (p.Leu1154Gln) c.3392T>A (p.Leu1131Gln) c.3260T>A (p.Leu1087Gln) c.3128T>A (p.Leu1043Gln) | |
20 | g.32435993T>C | CA408562733 | ASXL1 | c.3281T>C (p.Leu1094Pro) c.3098T>C (p.Leu1033Pro) n.5634T>C c.1869+1412T>C (n.1869+1412T>C) c.3266T>C (p.Leu1089Pro) c.3278T>C (p.Leu1093Pro) c.3251T>C (p.Leu1084Pro) c.3197T>C (p.Leu1066Pro) c.2597T>C (p.Leu866Pro) c.3545T>C (p.Leu1182Pro) c.3542T>C (p.Leu1181Pro) c.3461T>C (p.Leu1154Pro) c.3392T>C (p.Leu1131Pro) c.3260T>C (p.Leu1087Pro) c.3128T>C (p.Leu1043Pro) | gnomAD v4 |
20 | g.32435993T>G | CA408562734 | ASXL1 | c.3281T>G (p.Leu1094Arg) c.3098T>G (p.Leu1033Arg) n.5634T>G c.1869+1412T>G (n.1869+1412T>G) c.3266T>G (p.Leu1089Arg) c.3278T>G (p.Leu1093Arg) c.3251T>G (p.Leu1084Arg) c.3197T>G (p.Leu1066Arg) c.2597T>G (p.Leu866Arg) c.3545T>G (p.Leu1182Arg) c.3542T>G (p.Leu1181Arg) c.3461T>G (p.Leu1154Arg) c.3392T>G (p.Leu1131Arg) c.3260T>G (p.Leu1087Arg) c.3128T>G (p.Leu1043Arg) | |
20 | g.32435994G>A | CA510467213 | ASXL1 | c.3282G>A (p.Leu1094=) c.3099G>A (p.Leu1033=) n.5635G>A c.1869+1413G>A (n.1869+1413G>A) c.3267G>A (p.Leu1089=) c.3279G>A (p.Leu1093=) c.3252G>A (p.Leu1084=) c.3198G>A (p.Leu1066=) c.2598G>A (p.Leu866=) c.3546G>A (p.Leu1182=) c.3543G>A (p.Leu1181=) c.3462G>A (p.Leu1154=) c.3393G>A (p.Leu1131=) c.3261G>A (p.Leu1087=) c.3129G>A (p.Leu1043=) | dbSNP COSMIC COSMIC |
20 | g.32435994G>C | CA510467214 | ASXL1 | c.3282G>C (p.Leu1094=) c.3099G>C (p.Leu1033=) n.5635G>C c.1869+1413G>C (n.1869+1413G>C) c.3267G>C (p.Leu1089=) c.3279G>C (p.Leu1093=) c.3252G>C (p.Leu1084=) c.3198G>C (p.Leu1066=) c.2598G>C (p.Leu866=) c.3546G>C (p.Leu1182=) c.3543G>C (p.Leu1181=) c.3462G>C (p.Leu1154=) c.3393G>C (p.Leu1131=) c.3261G>C (p.Leu1087=) c.3129G>C (p.Leu1043=) | |
20 | g.32435994G>T | CA510467215 | ASXL1 | c.3282G>T (p.Leu1094=) c.3099G>T (p.Leu1033=) n.5635G>T c.1869+1413G>T (n.1869+1413G>T) c.3267G>T (p.Leu1089=) c.3279G>T (p.Leu1093=) c.3252G>T (p.Leu1084=) c.3198G>T (p.Leu1066=) c.2598G>T (p.Leu866=) c.3546G>T (p.Leu1182=) c.3543G>T (p.Leu1181=) c.3462G>T (p.Leu1154=) c.3393G>T (p.Leu1131=) c.3261G>T (p.Leu1087=) c.3129G>T (p.Leu1043=) | |
20 | g.32435995T>A | CA408562735 | ASXL1 | c.3283T>A (p.Ser1095Thr) c.3100T>A (p.Ser1034Thr) n.5636T>A c.1869+1414T>A (n.1869+1414T>A) c.3268T>A (p.Ser1090Thr) c.3280T>A (p.Ser1094Thr) c.3253T>A (p.Ser1085Thr) c.3199T>A (p.Ser1067Thr) c.2599T>A (p.Ser867Thr) c.3547T>A (p.Ser1183Thr) c.3544T>A (p.Ser1182Thr) c.3463T>A (p.Ser1155Thr) c.3394T>A (p.Ser1132Thr) c.3262T>A (p.Ser1088Thr) c.3130T>A (p.Ser1044Thr) | |
20 | g.32435995T>C | CA408562736 | ASXL1 | c.3283T>C (p.Ser1095Pro) c.3100T>C (p.Ser1034Pro) n.5636T>C c.1869+1414T>C (n.1869+1414T>C) c.3268T>C (p.Ser1090Pro) c.3280T>C (p.Ser1094Pro) c.3253T>C (p.Ser1085Pro) c.3199T>C (p.Ser1067Pro) c.2599T>C (p.Ser867Pro) c.3547T>C (p.Ser1183Pro) c.3544T>C (p.Ser1182Pro) c.3463T>C (p.Ser1155Pro) c.3394T>C (p.Ser1132Pro) c.3262T>C (p.Ser1088Pro) c.3130T>C (p.Ser1044Pro) | ClinVar |
20 | g.32435995T>G | CA408562737 | ASXL1 | c.3283T>G (p.Ser1095Ala) c.3100T>G (p.Ser1034Ala) n.5636T>G c.1869+1414T>G (n.1869+1414T>G) c.3268T>G (p.Ser1090Ala) c.3280T>G (p.Ser1094Ala) c.3253T>G (p.Ser1085Ala) c.3199T>G (p.Ser1067Ala) c.2599T>G (p.Ser867Ala) c.3547T>G (p.Ser1183Ala) c.3544T>G (p.Ser1182Ala) c.3463T>G (p.Ser1155Ala) c.3394T>G (p.Ser1132Ala) c.3262T>G (p.Ser1088Ala) c.3130T>G (p.Ser1044Ala) | |
20 | g.32435996C>A | CA408562738 | ASXL1 | c.3284C>A (p.Ser1095Tyr) c.3101C>A (p.Ser1034Tyr) n.5637C>A c.1869+1415C>A (n.1869+1415C>A) c.3269C>A (p.Ser1090Tyr) c.3281C>A (p.Ser1094Tyr) c.3254C>A (p.Ser1085Tyr) c.3200C>A (p.Ser1067Tyr) c.2600C>A (p.Ser867Tyr) c.3548C>A (p.Ser1183Tyr) c.3545C>A (p.Ser1182Tyr) c.3464C>A (p.Ser1155Tyr) c.3395C>A (p.Ser1132Tyr) c.3263C>A (p.Ser1088Tyr) c.3131C>A (p.Ser1044Tyr) | |
20 | g.32435996C= | CA2360293486 | ASXL1 | c.3284C= (p.Ser1095=) c.3101C= (p.Ser1034=) n.5637C= c.1869+1415C= (n.1869+1415C=) c.3269C= (p.Ser1090=) c.3281C= (p.Ser1094=) c.3254C= (p.Ser1085=) c.3200C= (p.Ser1067=) c.2600C= (p.Ser867=) c.3548C= (p.Ser1183=) c.3545C= (p.Ser1182=) c.3464C= (p.Ser1155=) c.3395C= (p.Ser1132=) c.3263C= (p.Ser1088=) c.3131C= (p.Ser1044=) | |
20 | g.32435996C>G | CA9808788 | ASXL1 | c.3284C>G (p.Ser1095Cys) c.3101C>G (p.Ser1034Cys) n.5637C>G c.1869+1415C>G (n.1869+1415C>G) c.3269C>G (p.Ser1090Cys) c.3281C>G (p.Ser1094Cys) c.3254C>G (p.Ser1085Cys) c.3200C>G (p.Ser1067Cys) c.2600C>G (p.Ser867Cys) c.3548C>G (p.Ser1183Cys) c.3545C>G (p.Ser1182Cys) c.3464C>G (p.Ser1155Cys) c.3395C>G (p.Ser1132Cys) c.3263C>G (p.Ser1088Cys) c.3131C>G (p.Ser1044Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435996C>T | CA408562739 | ASXL1 | c.3284C>T (p.Ser1095Phe) c.3101C>T (p.Ser1034Phe) n.5637C>T c.1869+1415C>T (n.1869+1415C>T) c.3269C>T (p.Ser1090Phe) c.3281C>T (p.Ser1094Phe) c.3254C>T (p.Ser1085Phe) c.3200C>T (p.Ser1067Phe) c.2600C>T (p.Ser867Phe) c.3548C>T (p.Ser1183Phe) c.3545C>T (p.Ser1182Phe) c.3464C>T (p.Ser1155Phe) c.3395C>T (p.Ser1132Phe) c.3263C>T (p.Ser1088Phe) c.3131C>T (p.Ser1044Phe) | |
20 | g.32435997C>A | CA510467219 | ASXL1 | c.3285C>A (p.Ser1095=) c.3102C>A (p.Ser1034=) n.5638C>A c.1869+1416C>A (n.1869+1416C>A) c.3270C>A (p.Ser1090=) c.3282C>A (p.Ser1094=) c.3255C>A (p.Ser1085=) c.3201C>A (p.Ser1067=) c.2601C>A (p.Ser867=) c.3549C>A (p.Ser1183=) c.3546C>A (p.Ser1182=) c.3465C>A (p.Ser1155=) c.3396C>A (p.Ser1132=) c.3264C>A (p.Ser1088=) c.3132C>A (p.Ser1044=) | |
20 | g.32435997C>G | CA510467220 | ASXL1 | c.3285C>G (p.Ser1095=) c.3102C>G (p.Ser1034=) n.5638C>G c.1869+1416C>G (n.1869+1416C>G) c.3270C>G (p.Ser1090=) c.3282C>G (p.Ser1094=) c.3255C>G (p.Ser1085=) c.3201C>G (p.Ser1067=) c.2601C>G (p.Ser867=) c.3549C>G (p.Ser1183=) c.3546C>G (p.Ser1182=) c.3465C>G (p.Ser1155=) c.3396C>G (p.Ser1132=) c.3264C>G (p.Ser1088=) c.3132C>G (p.Ser1044=) | |
20 | g.32435997C>T | CA510467221 | ASXL1 | c.3285C>T (p.Ser1095=) c.3102C>T (p.Ser1034=) n.5638C>T c.1869+1416C>T (n.1869+1416C>T) c.3270C>T (p.Ser1090=) c.3282C>T (p.Ser1094=) c.3255C>T (p.Ser1085=) c.3201C>T (p.Ser1067=) c.2601C>T (p.Ser867=) c.3549C>T (p.Ser1183=) c.3546C>T (p.Ser1182=) c.3465C>T (p.Ser1155=) c.3396C>T (p.Ser1132=) c.3264C>T (p.Ser1088=) c.3132C>T (p.Ser1044=) | dbSNP |
20 | g.32435998A= | CA2360293487 | ASXL1 | c.3286A= (p.Met1096=) c.3103A= (p.Met1035=) n.5639A= c.1869+1417A= (n.1869+1417A=) c.3271A= (p.Met1091=) c.3283A= (p.Met1095=) c.3256A= (p.Met1086=) c.3202A= (p.Met1068=) c.2602A= (p.Met868=) c.3550A= (p.Met1184=) c.3547A= (p.Met1183=) c.3466A= (p.Met1156=) c.3397A= (p.Met1133=) c.3265A= (p.Met1089=) c.3133A= (p.Met1045=) | |
20 | g.32435998A>C | CA408562740 | ASXL1 | c.3286A>C (p.Met1096Leu) c.3103A>C (p.Met1035Leu) n.5639A>C c.1869+1417A>C (n.1869+1417A>C) c.3271A>C (p.Met1091Leu) c.3283A>C (p.Met1095Leu) c.3256A>C (p.Met1086Leu) c.3202A>C (p.Met1068Leu) c.2602A>C (p.Met868Leu) c.3550A>C (p.Met1184Leu) c.3547A>C (p.Met1183Leu) c.3466A>C (p.Met1156Leu) c.3397A>C (p.Met1133Leu) c.3265A>C (p.Met1089Leu) c.3133A>C (p.Met1045Leu) | dbSNP gnomAD v4 |
20 | g.32435998A>G | CA9808789 | ASXL1 | c.3286A>G (p.Met1096Val) c.3103A>G (p.Met1035Val) n.5639A>G c.1869+1417A>G (n.1869+1417A>G) c.3271A>G (p.Met1091Val) c.3283A>G (p.Met1095Val) c.3256A>G (p.Met1086Val) c.3202A>G (p.Met1068Val) c.2602A>G (p.Met868Val) c.3550A>G (p.Met1184Val) c.3547A>G (p.Met1183Val) c.3466A>G (p.Met1156Val) c.3397A>G (p.Met1133Val) c.3265A>G (p.Met1089Val) c.3133A>G (p.Met1045Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435998A>T | CA408562741 | ASXL1 | c.3286A>T (p.Met1096Leu) c.3103A>T (p.Met1035Leu) n.5639A>T c.1869+1417A>T (n.1869+1417A>T) c.3271A>T (p.Met1091Leu) c.3283A>T (p.Met1095Leu) c.3256A>T (p.Met1086Leu) c.3202A>T (p.Met1068Leu) c.2602A>T (p.Met868Leu) c.3550A>T (p.Met1184Leu) c.3547A>T (p.Met1183Leu) c.3466A>T (p.Met1156Leu) c.3397A>T (p.Met1133Leu) c.3265A>T (p.Met1089Leu) c.3133A>T (p.Met1045Leu) | |
20 | g.32435999T>A | CA408562744 | ASXL1 | c.3287T>A (p.Met1096Lys) c.3104T>A (p.Met1035Lys) n.5640T>A c.1869+1418T>A (n.1869+1418T>A) c.3272T>A (p.Met1091Lys) c.3284T>A (p.Met1095Lys) c.3257T>A (p.Met1086Lys) c.3203T>A (p.Met1068Lys) c.2603T>A (p.Met868Lys) c.3551T>A (p.Met1184Lys) c.3548T>A (p.Met1183Lys) c.3467T>A (p.Met1156Lys) c.3398T>A (p.Met1133Lys) c.3266T>A (p.Met1089Lys) c.3134T>A (p.Met1045Lys) | |
20 | g.32435999T>C | CA408562743 | ASXL1 | c.3287T>C (p.Met1096Thr) c.3104T>C (p.Met1035Thr) n.5640T>C c.1869+1418T>C (n.1869+1418T>C) c.3272T>C (p.Met1091Thr) c.3284T>C (p.Met1095Thr) c.3257T>C (p.Met1086Thr) c.3203T>C (p.Met1068Thr) c.2603T>C (p.Met868Thr) c.3551T>C (p.Met1184Thr) c.3548T>C (p.Met1183Thr) c.3467T>C (p.Met1156Thr) c.3398T>C (p.Met1133Thr) c.3266T>C (p.Met1089Thr) c.3134T>C (p.Met1045Thr) | |
20 | g.32435999T>G | CA408562742 | ASXL1 | c.3287T>G (p.Met1096Arg) c.3104T>G (p.Met1035Arg) n.5640T>G c.1869+1418T>G (n.1869+1418T>G) c.3272T>G (p.Met1091Arg) c.3284T>G (p.Met1095Arg) c.3257T>G (p.Met1086Arg) c.3203T>G (p.Met1068Arg) c.2603T>G (p.Met868Arg) c.3551T>G (p.Met1184Arg) c.3548T>G (p.Met1183Arg) c.3467T>G (p.Met1156Arg) c.3398T>G (p.Met1133Arg) c.3266T>G (p.Met1089Arg) c.3134T>G (p.Met1045Arg) | dbSNP |
20 | g.32436000G>A | CA408562745 | ASXL1 | c.3288G>A (p.Met1096Ile) c.3105G>A (p.Met1035Ile) n.5641G>A c.1869+1419G>A (n.1869+1419G>A) c.3273G>A (p.Met1091Ile) c.3285G>A (p.Met1095Ile) c.3258G>A (p.Met1086Ile) c.3204G>A (p.Met1068Ile) c.2604G>A (p.Met868Ile) c.3552G>A (p.Met1184Ile) c.3549G>A (p.Met1183Ile) c.3468G>A (p.Met1156Ile) c.3399G>A (p.Met1133Ile) c.3267G>A (p.Met1089Ile) c.3135G>A (p.Met1045Ile) | dbSNP |
20 | g.32436000G>C | CA408562746 | ASXL1 | c.3288G>C (p.Met1096Ile) c.3105G>C (p.Met1035Ile) n.5641G>C c.1869+1419G>C (n.1869+1419G>C) c.3273G>C (p.Met1091Ile) c.3285G>C (p.Met1095Ile) c.3258G>C (p.Met1086Ile) c.3204G>C (p.Met1068Ile) c.2604G>C (p.Met868Ile) c.3552G>C (p.Met1184Ile) c.3549G>C (p.Met1183Ile) c.3468G>C (p.Met1156Ile) c.3399G>C (p.Met1133Ile) c.3267G>C (p.Met1089Ile) c.3135G>C (p.Met1045Ile) | dbSNP |
20 | g.32436000G= | CA2360293488 | ASXL1 | c.3288G= (p.Met1096=) c.3105G= (p.Met1035=) n.5641G= c.1869+1419G= (n.1869+1419G=) c.3273G= (p.Met1091=) c.3285G= (p.Met1095=) c.3258G= (p.Met1086=) c.3204G= (p.Met1068=) c.2604G= (p.Met868=) c.3552G= (p.Met1184=) c.3549G= (p.Met1183=) c.3468G= (p.Met1156=) c.3399G= (p.Met1133=) c.3267G= (p.Met1089=) c.3135G= (p.Met1045=) | |
20 | g.32436000G>T | CA408562747 | ASXL1 | c.3288G>T (p.Met1096Ile) c.3105G>T (p.Met1035Ile) n.5641G>T c.1869+1419G>T (n.1869+1419G>T) c.3273G>T (p.Met1091Ile) c.3285G>T (p.Met1095Ile) c.3258G>T (p.Met1086Ile) c.3204G>T (p.Met1068Ile) c.2604G>T (p.Met868Ile) c.3552G>T (p.Met1184Ile) c.3549G>T (p.Met1183Ile) c.3468G>T (p.Met1156Ile) c.3399G>T (p.Met1133Ile) c.3267G>T (p.Met1089Ile) c.3135G>T (p.Met1045Ile) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436001C>A | CA408562748 | ASXL1 | c.3289C>A (p.Pro1097Thr) c.3106C>A (p.Pro1036Thr) n.5642C>A c.1869+1420C>A (n.1869+1420C>A) c.3274C>A (p.Pro1092Thr) c.3286C>A (p.Pro1096Thr) c.3259C>A (p.Pro1087Thr) c.3205C>A (p.Pro1069Thr) c.2605C>A (p.Pro869Thr) c.3553C>A (p.Pro1185Thr) c.3550C>A (p.Pro1184Thr) c.3469C>A (p.Pro1157Thr) c.3400C>A (p.Pro1134Thr) c.3268C>A (p.Pro1090Thr) c.3136C>A (p.Pro1046Thr) | |
20 | g.32436001C= | CA2360293489 | ASXL1 | c.3289C= (p.Pro1097=) c.3106C= (p.Pro1036=) n.5642C= c.1869+1420C= (n.1869+1420C=) c.3274C= (p.Pro1092=) c.3286C= (p.Pro1096=) c.3259C= (p.Pro1087=) c.3205C= (p.Pro1069=) c.2605C= (p.Pro869=) c.3553C= (p.Pro1185=) c.3550C= (p.Pro1184=) c.3469C= (p.Pro1157=) c.3400C= (p.Pro1134=) c.3268C= (p.Pro1090=) c.3136C= (p.Pro1046=) | |
20 | g.32436001C>G | CA408562749 | ASXL1 | c.3289C>G (p.Pro1097Ala) c.3106C>G (p.Pro1036Ala) n.5642C>G c.1869+1420C>G (n.1869+1420C>G) c.3274C>G (p.Pro1092Ala) c.3286C>G (p.Pro1096Ala) c.3259C>G (p.Pro1087Ala) c.3205C>G (p.Pro1069Ala) c.2605C>G (p.Pro869Ala) c.3553C>G (p.Pro1185Ala) c.3550C>G (p.Pro1184Ala) c.3469C>G (p.Pro1157Ala) c.3400C>G (p.Pro1134Ala) c.3268C>G (p.Pro1090Ala) c.3136C>G (p.Pro1046Ala) | |
20 | g.32436001C>T | CA408562750 | ASXL1 | c.3289C>T (p.Pro1097Ser) c.3106C>T (p.Pro1036Ser) n.5642C>T c.1869+1420C>T (n.1869+1420C>T) c.3274C>T (p.Pro1092Ser) c.3286C>T (p.Pro1096Ser) c.3259C>T (p.Pro1087Ser) c.3205C>T (p.Pro1069Ser) c.2605C>T (p.Pro869Ser) c.3553C>T (p.Pro1185Ser) c.3550C>T (p.Pro1184Ser) c.3469C>T (p.Pro1157Ser) c.3400C>T (p.Pro1134Ser) c.3268C>T (p.Pro1090Ser) c.3136C>T (p.Pro1046Ser) | dbSNP gnomAD v4 |
20 | g.32436002C>A | CA408562751 | ASXL1 | c.3290C>A (p.Pro1097His) c.3107C>A (p.Pro1036His) n.5643C>A c.1869+1421C>A (n.1869+1421C>A) c.3275C>A (p.Pro1092His) c.3287C>A (p.Pro1096His) c.3260C>A (p.Pro1087His) c.3206C>A (p.Pro1069His) c.2606C>A (p.Pro869His) c.3554C>A (p.Pro1185His) c.3551C>A (p.Pro1184His) c.3470C>A (p.Pro1157His) c.3401C>A (p.Pro1134His) c.3269C>A (p.Pro1090His) c.3137C>A (p.Pro1046His) | |
20 | g.32436002C= | CA2360293490 | ASXL1 | c.3290C= (p.Pro1097=) c.3107C= (p.Pro1036=) n.5643C= c.1869+1421C= (n.1869+1421C=) c.3275C= (p.Pro1092=) c.3287C= (p.Pro1096=) c.3260C= (p.Pro1087=) c.3206C= (p.Pro1069=) c.2606C= (p.Pro869=) c.3554C= (p.Pro1185=) c.3551C= (p.Pro1184=) c.3470C= (p.Pro1157=) c.3401C= (p.Pro1134=) c.3269C= (p.Pro1090=) c.3137C= (p.Pro1046=) | |
20 | g.32436002C>G | CA408562752 | ASXL1 | c.3290C>G (p.Pro1097Arg) c.3107C>G (p.Pro1036Arg) n.5643C>G c.1869+1421C>G (n.1869+1421C>G) c.3275C>G (p.Pro1092Arg) c.3287C>G (p.Pro1096Arg) c.3260C>G (p.Pro1087Arg) c.3206C>G (p.Pro1069Arg) c.2606C>G (p.Pro869Arg) c.3554C>G (p.Pro1185Arg) c.3551C>G (p.Pro1184Arg) c.3470C>G (p.Pro1157Arg) c.3401C>G (p.Pro1134Arg) c.3269C>G (p.Pro1090Arg) c.3137C>G (p.Pro1046Arg) | |
20 | g.32436002C>T | CA408562753 | ASXL1 | c.3290C>T (p.Pro1097Leu) c.3107C>T (p.Pro1036Leu) n.5643C>T c.1869+1421C>T (n.1869+1421C>T) c.3275C>T (p.Pro1092Leu) c.3287C>T (p.Pro1096Leu) c.3260C>T (p.Pro1087Leu) c.3206C>T (p.Pro1069Leu) c.2606C>T (p.Pro869Leu) c.3554C>T (p.Pro1185Leu) c.3551C>T (p.Pro1184Leu) c.3470C>T (p.Pro1157Leu) c.3401C>T (p.Pro1134Leu) c.3269C>T (p.Pro1090Leu) c.3137C>T (p.Pro1046Leu) | dbSNP |
20 | g.32436003T>A | CA510466915 | ASXL1 | c.3291T>A (p.Pro1097=) c.3108T>A (p.Pro1036=) n.5644T>A c.1869+1422T>A (n.1869+1422T>A) c.3276T>A (p.Pro1092=) c.3288T>A (p.Pro1096=) c.3261T>A (p.Pro1087=) c.3207T>A (p.Pro1069=) c.2607T>A (p.Pro869=) c.3555T>A (p.Pro1185=) c.3552T>A (p.Pro1184=) c.3471T>A (p.Pro1157=) c.3402T>A (p.Pro1134=) c.3270T>A (p.Pro1090=) c.3138T>A (p.Pro1046=) | |
20 | g.32436003T>C | CA510466916 | ASXL1 | c.3291T>C (p.Pro1097=) c.3108T>C (p.Pro1036=) n.5644T>C c.1869+1422T>C (n.1869+1422T>C) c.3276T>C (p.Pro1092=) c.3288T>C (p.Pro1096=) c.3261T>C (p.Pro1087=) c.3207T>C (p.Pro1069=) c.2607T>C (p.Pro869=) c.3555T>C (p.Pro1185=) c.3552T>C (p.Pro1184=) c.3471T>C (p.Pro1157=) c.3402T>C (p.Pro1134=) c.3270T>C (p.Pro1090=) c.3138T>C (p.Pro1046=) | |
20 | g.32436003T>G | CA510466919 | ASXL1 | c.3291T>G (p.Pro1097=) c.3108T>G (p.Pro1036=) n.5644T>G c.1869+1422T>G (n.1869+1422T>G) c.3276T>G (p.Pro1092=) c.3288T>G (p.Pro1096=) c.3261T>G (p.Pro1087=) c.3207T>G (p.Pro1069=) c.2607T>G (p.Pro869=) c.3555T>G (p.Pro1185=) c.3552T>G (p.Pro1184=) c.3471T>G (p.Pro1157=) c.3402T>G (p.Pro1134=) c.3270T>G (p.Pro1090=) c.3138T>G (p.Pro1046=) | |
20 | g.32436004G>A | CA408562754 | ASXL1 | c.3292G>A (p.Gly1098Arg) c.3109G>A (p.Gly1037Arg) n.5645G>A c.1869+1423G>A (n.1869+1423G>A) c.3277G>A (p.Gly1093Arg) c.3289G>A (p.Gly1097Arg) c.3262G>A (p.Gly1088Arg) c.3208G>A (p.Gly1070Arg) c.2608G>A (p.Gly870Arg) c.3556G>A (p.Gly1186Arg) c.3553G>A (p.Gly1185Arg) c.3472G>A (p.Gly1158Arg) c.3403G>A (p.Gly1135Arg) c.3271G>A (p.Gly1091Arg) c.3139G>A (p.Gly1047Arg) | |
20 | g.32436004G>C | CA408562755 | ASXL1 | c.3292G>C (p.Gly1098Arg) c.3109G>C (p.Gly1037Arg) n.5645G>C c.1869+1423G>C (n.1869+1423G>C) c.3277G>C (p.Gly1093Arg) c.3289G>C (p.Gly1097Arg) c.3262G>C (p.Gly1088Arg) c.3208G>C (p.Gly1070Arg) c.2608G>C (p.Gly870Arg) c.3556G>C (p.Gly1186Arg) c.3553G>C (p.Gly1185Arg) c.3472G>C (p.Gly1158Arg) c.3403G>C (p.Gly1135Arg) c.3271G>C (p.Gly1091Arg) c.3139G>C (p.Gly1047Arg) | |
20 | g.32436004G>T | CA408562756 | ASXL1 | c.3292G>T (p.Gly1098Trp) c.3109G>T (p.Gly1037Trp) n.5645G>T c.1869+1423G>T (n.1869+1423G>T) c.3277G>T (p.Gly1093Trp) c.3289G>T (p.Gly1097Trp) c.3262G>T (p.Gly1088Trp) c.3208G>T (p.Gly1070Trp) c.2608G>T (p.Gly870Trp) c.3556G>T (p.Gly1186Trp) c.3553G>T (p.Gly1185Trp) c.3472G>T (p.Gly1158Trp) c.3403G>T (p.Gly1135Trp) c.3271G>T (p.Gly1091Trp) c.3139G>T (p.Gly1047Trp) | |
20 | g.32436005G>A | CA408562759 | ASXL1 | c.3293G>A (p.Gly1098Glu) c.3110G>A (p.Gly1037Glu) n.5646G>A c.1869+1424G>A (n.1869+1424G>A) c.3278G>A (p.Gly1093Glu) c.3290G>A (p.Gly1097Glu) c.3263G>A (p.Gly1088Glu) c.3209G>A (p.Gly1070Glu) c.2609G>A (p.Gly870Glu) c.3557G>A (p.Gly1186Glu) c.3554G>A (p.Gly1185Glu) c.3473G>A (p.Gly1158Glu) c.3404G>A (p.Gly1135Glu) c.3272G>A (p.Gly1091Glu) c.3140G>A (p.Gly1047Glu) | dbSNP |
20 | g.32436005G>C | CA408562758 | ASXL1 | c.3293G>C (p.Gly1098Ala) c.3110G>C (p.Gly1037Ala) n.5646G>C c.1869+1424G>C (n.1869+1424G>C) c.3278G>C (p.Gly1093Ala) c.3290G>C (p.Gly1097Ala) c.3263G>C (p.Gly1088Ala) c.3209G>C (p.Gly1070Ala) c.2609G>C (p.Gly870Ala) c.3557G>C (p.Gly1186Ala) c.3554G>C (p.Gly1185Ala) c.3473G>C (p.Gly1158Ala) c.3404G>C (p.Gly1135Ala) c.3272G>C (p.Gly1091Ala) c.3140G>C (p.Gly1047Ala) | |
20 | g.32436005G>T | CA408562757 | ASXL1 | c.3293G>T (p.Gly1098Val) c.3110G>T (p.Gly1037Val) n.5646G>T c.1869+1424G>T (n.1869+1424G>T) c.3278G>T (p.Gly1093Val) c.3290G>T (p.Gly1097Val) c.3263G>T (p.Gly1088Val) c.3209G>T (p.Gly1070Val) c.2609G>T (p.Gly870Val) c.3557G>T (p.Gly1186Val) c.3554G>T (p.Gly1185Val) c.3473G>T (p.Gly1158Val) c.3404G>T (p.Gly1135Val) c.3272G>T (p.Gly1091Val) c.3140G>T (p.Gly1047Val) | |
20 | g.32436006G>A | CA510466935 | ASXL1 | c.3294G>A (p.Gly1098=) c.3111G>A (p.Gly1037=) n.5647G>A c.1869+1425G>A (n.1869+1425G>A) c.3279G>A (p.Gly1093=) c.3291G>A (p.Gly1097=) c.3264G>A (p.Gly1088=) c.3210G>A (p.Gly1070=) c.2610G>A (p.Gly870=) c.3558G>A (p.Gly1186=) c.3555G>A (p.Gly1185=) c.3474G>A (p.Gly1158=) c.3405G>A (p.Gly1135=) c.3273G>A (p.Gly1091=) c.3141G>A (p.Gly1047=) | dbSNP |
20 | g.32436006G>C | CA510466938 | ASXL1 | c.3294G>C (p.Gly1098=) c.3111G>C (p.Gly1037=) n.5647G>C c.1869+1425G>C (n.1869+1425G>C) c.3279G>C (p.Gly1093=) c.3291G>C (p.Gly1097=) c.3264G>C (p.Gly1088=) c.3210G>C (p.Gly1070=) c.2610G>C (p.Gly870=) c.3558G>C (p.Gly1186=) c.3555G>C (p.Gly1185=) c.3474G>C (p.Gly1158=) c.3405G>C (p.Gly1135=) c.3273G>C (p.Gly1091=) c.3141G>C (p.Gly1047=) | |
20 | g.32436006G>T | CA510466937 | ASXL1 | c.3294G>T (p.Gly1098=) c.3111G>T (p.Gly1037=) n.5647G>T c.1869+1425G>T (n.1869+1425G>T) c.3279G>T (p.Gly1093=) c.3291G>T (p.Gly1097=) c.3264G>T (p.Gly1088=) c.3210G>T (p.Gly1070=) c.2610G>T (p.Gly870=) c.3558G>T (p.Gly1186=) c.3555G>T (p.Gly1185=) c.3474G>T (p.Gly1158=) c.3405G>T (p.Gly1135=) c.3273G>T (p.Gly1091=) c.3141G>T (p.Gly1047=) | |
20 | g.32436007T>A | CA408562760 | ASXL1 | c.3295T>A (p.Ser1099Thr) c.3112T>A (p.Ser1038Thr) n.5648T>A c.1869+1426T>A (n.1869+1426T>A) c.3280T>A (p.Ser1094Thr) c.3292T>A (p.Ser1098Thr) c.3265T>A (p.Ser1089Thr) c.3211T>A (p.Ser1071Thr) c.2611T>A (p.Ser871Thr) c.3559T>A (p.Ser1187Thr) c.3556T>A (p.Ser1186Thr) c.3475T>A (p.Ser1159Thr) c.3406T>A (p.Ser1136Thr) c.3274T>A (p.Ser1092Thr) c.3142T>A (p.Ser1048Thr) | |
20 | g.32436007T>C | CA408562761 | ASXL1 | c.3295T>C (p.Ser1099Pro) c.3112T>C (p.Ser1038Pro) n.5648T>C c.1869+1426T>C (n.1869+1426T>C) c.3280T>C (p.Ser1094Pro) c.3292T>C (p.Ser1098Pro) c.3265T>C (p.Ser1089Pro) c.3211T>C (p.Ser1071Pro) c.2611T>C (p.Ser871Pro) c.3559T>C (p.Ser1187Pro) c.3556T>C (p.Ser1186Pro) c.3475T>C (p.Ser1159Pro) c.3406T>C (p.Ser1136Pro) c.3274T>C (p.Ser1092Pro) c.3142T>C (p.Ser1048Pro) | |
20 | g.32436007T>G | CA408562762 | ASXL1 | c.3295T>G (p.Ser1099Ala) c.3112T>G (p.Ser1038Ala) n.5648T>G c.1869+1426T>G (n.1869+1426T>G) c.3280T>G (p.Ser1094Ala) c.3292T>G (p.Ser1098Ala) c.3265T>G (p.Ser1089Ala) c.3211T>G (p.Ser1071Ala) c.2611T>G (p.Ser871Ala) c.3559T>G (p.Ser1187Ala) c.3556T>G (p.Ser1186Ala) c.3475T>G (p.Ser1159Ala) c.3406T>G (p.Ser1136Ala) c.3274T>G (p.Ser1092Ala) c.3142T>G (p.Ser1048Ala) | |
20 | g.32436008C>A | CA408562763 | ASXL1 | c.3296C>A (p.Ser1099Tyr) c.3113C>A (p.Ser1038Tyr) n.5649C>A c.1869+1427C>A (n.1869+1427C>A) c.3281C>A (p.Ser1094Tyr) c.3293C>A (p.Ser1098Tyr) c.3266C>A (p.Ser1089Tyr) c.3212C>A (p.Ser1071Tyr) c.2612C>A (p.Ser871Tyr) c.3560C>A (p.Ser1187Tyr) c.3557C>A (p.Ser1186Tyr) c.3476C>A (p.Ser1159Tyr) c.3407C>A (p.Ser1136Tyr) c.3275C>A (p.Ser1092Tyr) c.3143C>A (p.Ser1048Tyr) | |
20 | g.32436008C>G | CA408562764 | ASXL1 | c.3296C>G (p.Ser1099Cys) c.3113C>G (p.Ser1038Cys) n.5649C>G c.1869+1427C>G (n.1869+1427C>G) c.3281C>G (p.Ser1094Cys) c.3293C>G (p.Ser1098Cys) c.3266C>G (p.Ser1089Cys) c.3212C>G (p.Ser1071Cys) c.2612C>G (p.Ser871Cys) c.3560C>G (p.Ser1187Cys) c.3557C>G (p.Ser1186Cys) c.3476C>G (p.Ser1159Cys) c.3407C>G (p.Ser1136Cys) c.3275C>G (p.Ser1092Cys) c.3143C>G (p.Ser1048Cys) | gnomAD v4 |
20 | g.32436008C>T | CA408562765 | ASXL1 | c.3296C>T (p.Ser1099Phe) c.3113C>T (p.Ser1038Phe) n.5649C>T c.1869+1427C>T (n.1869+1427C>T) c.3281C>T (p.Ser1094Phe) c.3293C>T (p.Ser1098Phe) c.3266C>T (p.Ser1089Phe) c.3212C>T (p.Ser1071Phe) c.2612C>T (p.Ser871Phe) c.3560C>T (p.Ser1187Phe) c.3557C>T (p.Ser1186Phe) c.3476C>T (p.Ser1159Phe) c.3407C>T (p.Ser1136Phe) c.3275C>T (p.Ser1092Phe) c.3143C>T (p.Ser1048Phe) | gnomAD v4 |
20 | g.32436009C>A | CA510466961 | ASXL1 | c.3297C>A (p.Ser1099=) c.3114C>A (p.Ser1038=) n.5650C>A c.1869+1428C>A (n.1869+1428C>A) c.3282C>A (p.Ser1094=) c.3294C>A (p.Ser1098=) c.3267C>A (p.Ser1089=) c.3213C>A (p.Ser1071=) c.2613C>A (p.Ser871=) c.3561C>A (p.Ser1187=) c.3558C>A (p.Ser1186=) c.3477C>A (p.Ser1159=) c.3408C>A (p.Ser1136=) c.3276C>A (p.Ser1092=) c.3144C>A (p.Ser1048=) | |
20 | g.32436009C= | CA2360293491 | ASXL1 | c.3297C= (p.Ser1099=) c.3114C= (p.Ser1038=) n.5650C= c.1869+1428C= (n.1869+1428C=) c.3282C= (p.Ser1094=) c.3294C= (p.Ser1098=) c.3267C= (p.Ser1089=) c.3213C= (p.Ser1071=) c.2613C= (p.Ser871=) c.3561C= (p.Ser1187=) c.3558C= (p.Ser1186=) c.3477C= (p.Ser1159=) c.3408C= (p.Ser1136=) c.3276C= (p.Ser1092=) c.3144C= (p.Ser1048=) | |
20 | g.32436009C>G | CA510466963 | ASXL1 | c.3297C>G (p.Ser1099=) c.3114C>G (p.Ser1038=) n.5650C>G c.1869+1428C>G (n.1869+1428C>G) c.3282C>G (p.Ser1094=) c.3294C>G (p.Ser1098=) c.3267C>G (p.Ser1089=) c.3213C>G (p.Ser1071=) c.2613C>G (p.Ser871=) c.3561C>G (p.Ser1187=) c.3558C>G (p.Ser1186=) c.3477C>G (p.Ser1159=) c.3408C>G (p.Ser1136=) c.3276C>G (p.Ser1092=) c.3144C>G (p.Ser1048=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436009C>T | CA510466964 | ASXL1 | c.3297C>T (p.Ser1099=) c.3114C>T (p.Ser1038=) n.5650C>T c.1869+1428C>T (n.1869+1428C>T) c.3282C>T (p.Ser1094=) c.3294C>T (p.Ser1098=) c.3267C>T (p.Ser1089=) c.3213C>T (p.Ser1071=) c.2613C>T (p.Ser871=) c.3561C>T (p.Ser1187=) c.3558C>T (p.Ser1186=) c.3477C>T (p.Ser1159=) c.3408C>T (p.Ser1136=) c.3276C>T (p.Ser1092=) c.3144C>T (p.Ser1048=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436010T>A | CA408562766 | ASXL1 | c.3298T>A (p.Ser1100Thr) c.3115T>A (p.Ser1039Thr) n.5651T>A c.1869+1429T>A (n.1869+1429T>A) c.3283T>A (p.Ser1095Thr) c.3295T>A (p.Ser1099Thr) c.3268T>A (p.Ser1090Thr) c.3214T>A (p.Ser1072Thr) c.2614T>A (p.Ser872Thr) c.3562T>A (p.Ser1188Thr) c.3559T>A (p.Ser1187Thr) c.3478T>A (p.Ser1160Thr) c.3409T>A (p.Ser1137Thr) c.3277T>A (p.Ser1093Thr) c.3145T>A (p.Ser1049Thr) | |
20 | g.32436010T>C | CA408562767 | ASXL1 | c.3298T>C (p.Ser1100Pro) c.3115T>C (p.Ser1039Pro) n.5651T>C c.1869+1429T>C (n.1869+1429T>C) c.3283T>C (p.Ser1095Pro) c.3295T>C (p.Ser1099Pro) c.3268T>C (p.Ser1090Pro) c.3214T>C (p.Ser1072Pro) c.2614T>C (p.Ser872Pro) c.3562T>C (p.Ser1188Pro) c.3559T>C (p.Ser1187Pro) c.3478T>C (p.Ser1160Pro) c.3409T>C (p.Ser1137Pro) c.3277T>C (p.Ser1093Pro) c.3145T>C (p.Ser1049Pro) | dbSNP |
20 | g.32436010T>G | CA408562768 | ASXL1 | c.3298T>G (p.Ser1100Ala) c.3115T>G (p.Ser1039Ala) n.5651T>G c.1869+1429T>G (n.1869+1429T>G) c.3283T>G (p.Ser1095Ala) c.3295T>G (p.Ser1099Ala) c.3268T>G (p.Ser1090Ala) c.3214T>G (p.Ser1072Ala) c.2614T>G (p.Ser872Ala) c.3562T>G (p.Ser1188Ala) c.3559T>G (p.Ser1187Ala) c.3478T>G (p.Ser1160Ala) c.3409T>G (p.Ser1137Ala) c.3277T>G (p.Ser1093Ala) c.3145T>G (p.Ser1049Ala) | |
20 | g.32436010T= | CA2360293492 | ASXL1 | c.3298T= (p.Ser1100=) c.3115T= (p.Ser1039=) n.5651T= c.1869+1429T= (n.1869+1429T=) c.3283T= (p.Ser1095=) c.3295T= (p.Ser1099=) c.3268T= (p.Ser1090=) c.3214T= (p.Ser1072=) c.2614T= (p.Ser872=) c.3562T= (p.Ser1188=) c.3559T= (p.Ser1187=) c.3478T= (p.Ser1160=) c.3409T= (p.Ser1137=) c.3277T= (p.Ser1093=) c.3145T= (p.Ser1049=) | |
20 | g.32436011C>A | CA408562769 | ASXL1 | c.3299C>A (p.Ser1100Ter) c.3116C>A (p.Ser1039Ter) n.5652C>A c.1869+1430C>A (n.1869+1430C>A) c.3284C>A (p.Ser1095Ter) c.3296C>A (p.Ser1099Ter) c.3269C>A (p.Ser1090Ter) c.3215C>A (p.Ser1072Ter) c.2615C>A (p.Ser872Ter) c.3563C>A (p.Ser1188Ter) c.3560C>A (p.Ser1187Ter) c.3479C>A (p.Ser1160Ter) c.3410C>A (p.Ser1137Ter) c.3278C>A (p.Ser1093Ter) c.3146C>A (p.Ser1049Ter) | COSMIC COSMIC |
20 | g.32436011C>G | CA408562770 | ASXL1 | c.3299C>G (p.Ser1100Ter) c.3116C>G (p.Ser1039Ter) n.5652C>G c.1869+1430C>G (n.1869+1430C>G) c.3284C>G (p.Ser1095Ter) c.3296C>G (p.Ser1099Ter) c.3269C>G (p.Ser1090Ter) c.3215C>G (p.Ser1072Ter) c.2615C>G (p.Ser872Ter) c.3563C>G (p.Ser1188Ter) c.3560C>G (p.Ser1187Ter) c.3479C>G (p.Ser1160Ter) c.3410C>G (p.Ser1137Ter) c.3278C>G (p.Ser1093Ter) c.3146C>G (p.Ser1049Ter) | |
20 | g.32436011C>T | CA408562771 | ASXL1 | c.3299C>T (p.Ser1100Leu) c.3116C>T (p.Ser1039Leu) n.5652C>T c.1869+1430C>T (n.1869+1430C>T) c.3284C>T (p.Ser1095Leu) c.3296C>T (p.Ser1099Leu) c.3269C>T (p.Ser1090Leu) c.3215C>T (p.Ser1072Leu) c.2615C>T (p.Ser872Leu) c.3563C>T (p.Ser1188Leu) c.3560C>T (p.Ser1187Leu) c.3479C>T (p.Ser1160Leu) c.3410C>T (p.Ser1137Leu) c.3278C>T (p.Ser1093Leu) c.3146C>T (p.Ser1049Leu) | |
20 | g.32436012A>C | CA510466973 | ASXL1 | c.3300A>C (p.Ser1100=) c.3117A>C (p.Ser1039=) n.5653A>C c.1869+1431A>C (n.1869+1431A>C) c.3285A>C (p.Ser1095=) c.3297A>C (p.Ser1099=) c.3270A>C (p.Ser1090=) c.3216A>C (p.Ser1072=) c.2616A>C (p.Ser872=) c.3564A>C (p.Ser1188=) c.3561A>C (p.Ser1187=) c.3480A>C (p.Ser1160=) c.3411A>C (p.Ser1137=) c.3279A>C (p.Ser1093=) c.3147A>C (p.Ser1049=) | |
20 | g.32436012A>G | CA510466976 | ASXL1 | c.3300A>G (p.Ser1100=) c.3117A>G (p.Ser1039=) n.5653A>G c.1869+1431A>G (n.1869+1431A>G) c.3285A>G (p.Ser1095=) c.3297A>G (p.Ser1099=) c.3270A>G (p.Ser1090=) c.3216A>G (p.Ser1072=) c.2616A>G (p.Ser872=) c.3564A>G (p.Ser1188=) c.3561A>G (p.Ser1187=) c.3480A>G (p.Ser1160=) c.3411A>G (p.Ser1137=) c.3279A>G (p.Ser1093=) c.3147A>G (p.Ser1049=) | |
20 | g.32436012A>T | CA510466974 | ASXL1 | c.3300A>T (p.Ser1100=) c.3117A>T (p.Ser1039=) n.5653A>T c.1869+1431A>T (n.1869+1431A>T) c.3285A>T (p.Ser1095=) c.3297A>T (p.Ser1099=) c.3270A>T (p.Ser1090=) c.3216A>T (p.Ser1072=) c.2616A>T (p.Ser872=) c.3564A>T (p.Ser1188=) c.3561A>T (p.Ser1187=) c.3480A>T (p.Ser1160=) c.3411A>T (p.Ser1137=) c.3279A>T (p.Ser1093=) c.3147A>T (p.Ser1049=) | |
20 | g.32436013G>A | CA408562774 | ASXL1 | c.3301G>A (p.Val1101Met) c.3118G>A (p.Val1040Met) n.5654G>A c.1869+1432G>A (n.1869+1432G>A) c.3286G>A (p.Val1096Met) c.3298G>A (p.Val1100Met) c.3271G>A (p.Val1091Met) c.3217G>A (p.Val1073Met) c.2617G>A (p.Val873Met) c.3565G>A (p.Val1189Met) c.3562G>A (p.Val1188Met) c.3481G>A (p.Val1161Met) c.3412G>A (p.Val1138Met) c.3280G>A (p.Val1094Met) c.3148G>A (p.Val1050Met) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436013G>C | CA408562773 | ASXL1 | c.3301G>C (p.Val1101Leu) c.3118G>C (p.Val1040Leu) n.5654G>C c.1869+1432G>C (n.1869+1432G>C) c.3286G>C (p.Val1096Leu) c.3298G>C (p.Val1100Leu) c.3271G>C (p.Val1091Leu) c.3217G>C (p.Val1073Leu) c.2617G>C (p.Val873Leu) c.3565G>C (p.Val1189Leu) c.3562G>C (p.Val1188Leu) c.3481G>C (p.Val1161Leu) c.3412G>C (p.Val1138Leu) c.3280G>C (p.Val1094Leu) c.3148G>C (p.Val1050Leu) | |
20 | g.32436013G= | CA2360293493 | ASXL1 | c.3301G= (p.Val1101=) c.3118G= (p.Val1040=) n.5654G= c.1869+1432G= (n.1869+1432G=) c.3286G= (p.Val1096=) c.3298G= (p.Val1100=) c.3271G= (p.Val1091=) c.3217G= (p.Val1073=) c.2617G= (p.Val873=) c.3565G= (p.Val1189=) c.3562G= (p.Val1188=) c.3481G= (p.Val1161=) c.3412G= (p.Val1138=) c.3280G= (p.Val1094=) c.3148G= (p.Val1050=) | |
20 | g.32436013G>T | CA408562772 | ASXL1 | c.3301G>T (p.Val1101Leu) c.3118G>T (p.Val1040Leu) n.5654G>T c.1869+1432G>T (n.1869+1432G>T) c.3286G>T (p.Val1096Leu) c.3298G>T (p.Val1100Leu) c.3271G>T (p.Val1091Leu) c.3217G>T (p.Val1073Leu) c.2617G>T (p.Val873Leu) c.3565G>T (p.Val1189Leu) c.3562G>T (p.Val1188Leu) c.3481G>T (p.Val1161Leu) c.3412G>T (p.Val1138Leu) c.3280G>T (p.Val1094Leu) c.3148G>T (p.Val1050Leu) | |
20 | g.32436014_32436016del | CA2816151276 | ASXL1 | c.3302_3304del (p.Val1101del) c.3119_3121del (p.Val1040del) n.5655_5657del c.1869+1433_1869+1435del (n.1869+1433_1869+1435del) c.3287_3289del (p.Val1096del) c.3299_3301del (p.Val1100del) c.3272_3274del (p.Val1091del) c.3218_3220del (p.Val1073del) c.2618_2620del (p.Val873del) c.3566_3568del (p.Val1189del) c.3563_3565del (p.Val1188del) c.3482_3484del (p.Val1161del) c.3413_3415del (p.Val1138del) c.3281_3283del (p.Val1094del) c.3149_3151del (p.Val1050del) | |
20 | g.32436014T>A | CA408562775 | ASXL1 | c.3302T>A (p.Val1101Glu) c.3119T>A (p.Val1040Glu) n.5655T>A c.1869+1433T>A (n.1869+1433T>A) c.3287T>A (p.Val1096Glu) c.3299T>A (p.Val1100Glu) c.3272T>A (p.Val1091Glu) c.3218T>A (p.Val1073Glu) c.2618T>A (p.Val873Glu) c.3566T>A (p.Val1189Glu) c.3563T>A (p.Val1188Glu) c.3482T>A (p.Val1161Glu) c.3413T>A (p.Val1138Glu) c.3281T>A (p.Val1094Glu) c.3149T>A (p.Val1050Glu) | ClinVar dbSNP |
20 | g.32436014T>C | CA408562777 | ASXL1 | c.3302T>C (p.Val1101Ala) c.3119T>C (p.Val1040Ala) n.5655T>C c.1869+1433T>C (n.1869+1433T>C) c.3287T>C (p.Val1096Ala) c.3299T>C (p.Val1100Ala) c.3272T>C (p.Val1091Ala) c.3218T>C (p.Val1073Ala) c.2618T>C (p.Val873Ala) c.3566T>C (p.Val1189Ala) c.3563T>C (p.Val1188Ala) c.3482T>C (p.Val1161Ala) c.3413T>C (p.Val1138Ala) c.3281T>C (p.Val1094Ala) c.3149T>C (p.Val1050Ala) | |
20 | g.32436014T>G | CA408562776 | ASXL1 | c.3302T>G (p.Val1101Gly) c.3119T>G (p.Val1040Gly) n.5655T>G c.1869+1433T>G (n.1869+1433T>G) c.3287T>G (p.Val1096Gly) c.3299T>G (p.Val1100Gly) c.3272T>G (p.Val1091Gly) c.3218T>G (p.Val1073Gly) c.2618T>G (p.Val873Gly) c.3566T>G (p.Val1189Gly) c.3563T>G (p.Val1188Gly) c.3482T>G (p.Val1161Gly) c.3413T>G (p.Val1138Gly) c.3281T>G (p.Val1094Gly) c.3149T>G (p.Val1050Gly) | |
20 | g.32436015G>A | CA510466979 | ASXL1 | c.3303G>A (p.Val1101=) c.3120G>A (p.Val1040=) n.5656G>A c.1869+1434G>A (n.1869+1434G>A) c.3288G>A (p.Val1096=) c.3300G>A (p.Val1100=) c.3273G>A (p.Val1091=) c.3219G>A (p.Val1073=) c.2619G>A (p.Val873=) c.3567G>A (p.Val1189=) c.3564G>A (p.Val1188=) c.3483G>A (p.Val1161=) c.3414G>A (p.Val1138=) c.3282G>A (p.Val1094=) c.3150G>A (p.Val1050=) | |
20 | g.32436015G>C | CA510466980 | ASXL1 | c.3303G>C (p.Val1101=) c.3120G>C (p.Val1040=) n.5656G>C c.1869+1434G>C (n.1869+1434G>C) c.3288G>C (p.Val1096=) c.3300G>C (p.Val1100=) c.3273G>C (p.Val1091=) c.3219G>C (p.Val1073=) c.2619G>C (p.Val873=) c.3567G>C (p.Val1189=) c.3564G>C (p.Val1188=) c.3483G>C (p.Val1161=) c.3414G>C (p.Val1138=) c.3282G>C (p.Val1094=) c.3150G>C (p.Val1050=) | |
20 | g.32436015G>T | CA510466981 | ASXL1 | c.3303G>T (p.Val1101=) c.3120G>T (p.Val1040=) n.5656G>T c.1869+1434G>T (n.1869+1434G>T) c.3288G>T (p.Val1096=) c.3300G>T (p.Val1100=) c.3273G>T (p.Val1091=) c.3219G>T (p.Val1073=) c.2619G>T (p.Val873=) c.3567G>T (p.Val1189=) c.3564G>T (p.Val1188=) c.3483G>T (p.Val1161=) c.3414G>T (p.Val1138=) c.3282G>T (p.Val1094=) c.3150G>T (p.Val1050=) | |
20 | g.32436016G>A | CA408562778 | ASXL1 | c.3304G>A (p.Glu1102Lys) c.3121G>A (p.Glu1041Lys) n.5657G>A c.1869+1435G>A (n.1869+1435G>A) c.3289G>A (p.Glu1097Lys) c.3301G>A (p.Glu1101Lys) c.3274G>A (p.Glu1092Lys) c.3220G>A (p.Glu1074Lys) c.2620G>A (p.Glu874Lys) c.3568G>A (p.Glu1190Lys) c.3565G>A (p.Glu1189Lys) c.3484G>A (p.Glu1162Lys) c.3415G>A (p.Glu1139Lys) c.3283G>A (p.Glu1095Lys) c.3151G>A (p.Glu1051Lys) | dbSNP |
20 | g.32436016G>C | CA408562779 | ASXL1 | c.3304G>C (p.Glu1102Gln) c.3121G>C (p.Glu1041Gln) n.5657G>C c.1869+1435G>C (n.1869+1435G>C) c.3289G>C (p.Glu1097Gln) c.3301G>C (p.Glu1101Gln) c.3274G>C (p.Glu1092Gln) c.3220G>C (p.Glu1074Gln) c.2620G>C (p.Glu874Gln) c.3568G>C (p.Glu1190Gln) c.3565G>C (p.Glu1189Gln) c.3484G>C (p.Glu1162Gln) c.3415G>C (p.Glu1139Gln) c.3283G>C (p.Glu1095Gln) c.3151G>C (p.Glu1051Gln) | dbSNP |
20 | g.32436016G>T | CA408562780 | ASXL1 | c.3304G>T (p.Glu1102Ter) c.3121G>T (p.Glu1041Ter) n.5657G>T c.1869+1435G>T (n.1869+1435G>T) c.3289G>T (p.Glu1097Ter) c.3301G>T (p.Glu1101Ter) c.3274G>T (p.Glu1092Ter) c.3220G>T (p.Glu1074Ter) c.2620G>T (p.Glu874Ter) c.3568G>T (p.Glu1190Ter) c.3565G>T (p.Glu1189Ter) c.3484G>T (p.Glu1162Ter) c.3415G>T (p.Glu1139Ter) c.3283G>T (p.Glu1095Ter) c.3151G>T (p.Glu1051Ter) | |
20 | g.32436017A>C | CA408562781 | ASXL1 | c.3305A>C (p.Glu1102Ala) c.3122A>C (p.Glu1041Ala) n.5658A>C c.1869+1436A>C (n.1869+1436A>C) c.3290A>C (p.Glu1097Ala) c.3302A>C (p.Glu1101Ala) c.3275A>C (p.Glu1092Ala) c.3221A>C (p.Glu1074Ala) c.2621A>C (p.Glu874Ala) c.3569A>C (p.Glu1190Ala) c.3566A>C (p.Glu1189Ala) c.3485A>C (p.Glu1162Ala) c.3416A>C (p.Glu1139Ala) c.3284A>C (p.Glu1095Ala) c.3152A>C (p.Glu1051Ala) | |
20 | g.32436017A>G | CA408562782 | ASXL1 | c.3305A>G (p.Glu1102Gly) c.3122A>G (p.Glu1041Gly) n.5658A>G c.1869+1436A>G (n.1869+1436A>G) c.3290A>G (p.Glu1097Gly) c.3302A>G (p.Glu1101Gly) c.3275A>G (p.Glu1092Gly) c.3221A>G (p.Glu1074Gly) c.2621A>G (p.Glu874Gly) c.3569A>G (p.Glu1190Gly) c.3566A>G (p.Glu1189Gly) c.3485A>G (p.Glu1162Gly) c.3416A>G (p.Glu1139Gly) c.3284A>G (p.Glu1095Gly) c.3152A>G (p.Glu1051Gly) | ClinVar dbSNP |
20 | g.32436017A>T | CA408562783 | ASXL1 | c.3305A>T (p.Glu1102Val) c.3122A>T (p.Glu1041Val) n.5658A>T c.1869+1436A>T (n.1869+1436A>T) c.3290A>T (p.Glu1097Val) c.3302A>T (p.Glu1101Val) c.3275A>T (p.Glu1092Val) c.3221A>T (p.Glu1074Val) c.2621A>T (p.Glu874Val) c.3569A>T (p.Glu1190Val) c.3566A>T (p.Glu1189Val) c.3485A>T (p.Glu1162Val) c.3416A>T (p.Glu1139Val) c.3284A>T (p.Glu1095Val) c.3152A>T (p.Glu1051Val) | |
20 | g.32436018G>A | CA510466983 | ASXL1 | c.3306G>A (p.Glu1102=) c.3123G>A (p.Glu1041=) n.5659G>A c.1869+1437G>A (n.1869+1437G>A) c.3291G>A (p.Glu1097=) c.3303G>A (p.Glu1101=) c.3276G>A (p.Glu1092=) c.3222G>A (p.Glu1074=) c.2622G>A (p.Glu874=) c.3570G>A (p.Glu1190=) c.3567G>A (p.Glu1189=) c.3486G>A (p.Glu1162=) c.3417G>A (p.Glu1139=) c.3285G>A (p.Glu1095=) c.3153G>A (p.Glu1051=) | |
20 | g.32436018G>C | CA408562784 | ASXL1 | c.3306G>C (p.Glu1102Asp) c.3123G>C (p.Glu1041Asp) n.5659G>C c.1869+1437G>C (n.1869+1437G>C) c.3291G>C (p.Glu1097Asp) c.3303G>C (p.Glu1101Asp) c.3276G>C (p.Glu1092Asp) c.3222G>C (p.Glu1074Asp) c.2622G>C (p.Glu874Asp) c.3570G>C (p.Glu1190Asp) c.3567G>C (p.Glu1189Asp) c.3486G>C (p.Glu1162Asp) c.3417G>C (p.Glu1139Asp) c.3285G>C (p.Glu1095Asp) c.3153G>C (p.Glu1051Asp) | COSMIC |
20 | g.32436018G= | CA2360293494 | ASXL1 | c.3306G= (p.Glu1102=) c.3123G= (p.Glu1041=) n.5659G= c.1869+1437G= (n.1869+1437G=) c.3291G= (p.Glu1097=) c.3303G= (p.Glu1101=) c.3276G= (p.Glu1092=) c.3222G= (p.Glu1074=) c.2622G= (p.Glu874=) c.3570G= (p.Glu1190=) c.3567G= (p.Glu1189=) c.3486G= (p.Glu1162=) c.3417G= (p.Glu1139=) c.3285G= (p.Glu1095=) c.3153G= (p.Glu1051=) | |
20 | g.32436018G>T | CA157038 | ASXL1 | c.3306G>T (p.Glu1102Asp) c.3123G>T (p.Glu1041Asp) n.5659G>T c.1869+1437G>T (n.1869+1437G>T) c.3291G>T (p.Glu1097Asp) c.3303G>T (p.Glu1101Asp) c.3276G>T (p.Glu1092Asp) c.3222G>T (p.Glu1074Asp) c.2622G>T (p.Glu874Asp) c.3570G>T (p.Glu1190Asp) c.3567G>T (p.Glu1189Asp) c.3486G>T (p.Glu1162Asp) c.3417G>T (p.Glu1139Asp) c.3285G>T (p.Glu1095Asp) c.3153G>T (p.Glu1051Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436019G>A | CA408562785 | ASXL1 | c.3307G>A (p.Ala1103Thr) c.3124G>A (p.Ala1042Thr) n.5660G>A c.1869+1438G>A (n.1869+1438G>A) c.3292G>A (p.Ala1098Thr) c.3304G>A (p.Ala1102Thr) c.3277G>A (p.Ala1093Thr) c.3223G>A (p.Ala1075Thr) c.2623G>A (p.Ala875Thr) c.3571G>A (p.Ala1191Thr) c.3568G>A (p.Ala1190Thr) c.3487G>A (p.Ala1163Thr) c.3418G>A (p.Ala1140Thr) c.3286G>A (p.Ala1096Thr) c.3154G>A (p.Ala1052Thr) | |
20 | g.32436019G>C | CA408562786 | ASXL1 | c.3307G>C (p.Ala1103Pro) c.3124G>C (p.Ala1042Pro) n.5660G>C c.1869+1438G>C (n.1869+1438G>C) c.3292G>C (p.Ala1098Pro) c.3304G>C (p.Ala1102Pro) c.3277G>C (p.Ala1093Pro) c.3223G>C (p.Ala1075Pro) c.2623G>C (p.Ala875Pro) c.3571G>C (p.Ala1191Pro) c.3568G>C (p.Ala1190Pro) c.3487G>C (p.Ala1163Pro) c.3418G>C (p.Ala1140Pro) c.3286G>C (p.Ala1096Pro) c.3154G>C (p.Ala1052Pro) | |
20 | g.32436019G>T | CA408562787 | ASXL1 | c.3307G>T (p.Ala1103Ser) c.3124G>T (p.Ala1042Ser) n.5660G>T c.1869+1438G>T (n.1869+1438G>T) c.3292G>T (p.Ala1098Ser) c.3304G>T (p.Ala1102Ser) c.3277G>T (p.Ala1093Ser) c.3223G>T (p.Ala1075Ser) c.2623G>T (p.Ala875Ser) c.3571G>T (p.Ala1191Ser) c.3568G>T (p.Ala1190Ser) c.3487G>T (p.Ala1163Ser) c.3418G>T (p.Ala1140Ser) c.3286G>T (p.Ala1096Ser) c.3154G>T (p.Ala1052Ser) | |
20 | g.32436020C>A | CA408562790 | ASXL1 | c.3308C>A (p.Ala1103Asp) c.3125C>A (p.Ala1042Asp) n.5661C>A c.1869+1439C>A (n.1869+1439C>A) c.3293C>A (p.Ala1098Asp) c.3305C>A (p.Ala1102Asp) c.3278C>A (p.Ala1093Asp) c.3224C>A (p.Ala1075Asp) c.2624C>A (p.Ala875Asp) c.3572C>A (p.Ala1191Asp) c.3569C>A (p.Ala1190Asp) c.3488C>A (p.Ala1163Asp) c.3419C>A (p.Ala1140Asp) c.3287C>A (p.Ala1096Asp) c.3155C>A (p.Ala1052Asp) | |
20 | g.32436020C>G | CA408562789 | ASXL1 | c.3308C>G (p.Ala1103Gly) c.3125C>G (p.Ala1042Gly) n.5661C>G c.1869+1439C>G (n.1869+1439C>G) c.3293C>G (p.Ala1098Gly) c.3305C>G (p.Ala1102Gly) c.3278C>G (p.Ala1093Gly) c.3224C>G (p.Ala1075Gly) c.2624C>G (p.Ala875Gly) c.3572C>G (p.Ala1191Gly) c.3569C>G (p.Ala1190Gly) c.3488C>G (p.Ala1163Gly) c.3419C>G (p.Ala1140Gly) c.3287C>G (p.Ala1096Gly) c.3155C>G (p.Ala1052Gly) | dbSNP |
20 | g.32436020C>T | CA408562788 | ASXL1 | c.3308C>T (p.Ala1103Val) c.3125C>T (p.Ala1042Val) n.5661C>T c.1869+1439C>T (n.1869+1439C>T) c.3293C>T (p.Ala1098Val) c.3305C>T (p.Ala1102Val) c.3278C>T (p.Ala1093Val) c.3224C>T (p.Ala1075Val) c.2624C>T (p.Ala875Val) c.3572C>T (p.Ala1191Val) c.3569C>T (p.Ala1190Val) c.3488C>T (p.Ala1163Val) c.3419C>T (p.Ala1140Val) c.3287C>T (p.Ala1096Val) c.3155C>T (p.Ala1052Val) | dbSNP |
20 | g.32436020_32436025del | CA2652401180 | ASXL1 | c.3308_3313del (p.Ala1103_Asn1105delinsAsp) c.3125_3130del (p.Ala1042_Asn1044delinsAsp) n.5661_5666del c.1869+1439_1869+1444del (n.1869+1439_1869+1444del) c.3293_3298del (p.Ala1098_Asn1100delinsAsp) c.3305_3310del (p.Ala1102_Asn1104delinsAsp) c.3278_3283del (p.Ala1093_Asn1095delinsAsp) c.3224_3229del (p.Ala1075_Asn1077delinsAsp) c.2624_2629del (p.Ala875_Asn877delinsAsp) c.3572_3577del (p.Ala1191_Asn1193delinsAsp) c.3569_3574del (p.Ala1190_Asn1192delinsAsp) c.3488_3493del (p.Ala1163_Asn1165delinsAsp) c.3419_3424del (p.Ala1140_Asn1142delinsAsp) c.3287_3292del (p.Ala1096_Asn1098delinsAsp) c.3155_3160del (p.Ala1052_Asn1054delinsAsp) | gnomAD v4 |
20 | g.32436021C>A | CA510466999 | ASXL1 | c.3309C>A (p.Ala1103=) c.3126C>A (p.Ala1042=) n.5662C>A c.1869+1440C>A (n.1869+1440C>A) c.3294C>A (p.Ala1098=) c.3306C>A (p.Ala1102=) c.3279C>A (p.Ala1093=) c.3225C>A (p.Ala1075=) c.2625C>A (p.Ala875=) c.3573C>A (p.Ala1191=) c.3570C>A (p.Ala1190=) c.3489C>A (p.Ala1163=) c.3420C>A (p.Ala1140=) c.3288C>A (p.Ala1096=) c.3156C>A (p.Ala1052=) | |
20 | g.32436021C= | CA2360293495 | ASXL1 | c.3309C= (p.Ala1103=) c.3126C= (p.Ala1042=) n.5662C= c.1869+1440C= (n.1869+1440C=) c.3294C= (p.Ala1098=) c.3306C= (p.Ala1102=) c.3279C= (p.Ala1093=) c.3225C= (p.Ala1075=) c.2625C= (p.Ala875=) c.3573C= (p.Ala1191=) c.3570C= (p.Ala1190=) c.3489C= (p.Ala1163=) c.3420C= (p.Ala1140=) c.3288C= (p.Ala1096=) c.3156C= (p.Ala1052=) | |
20 | g.32436021C>G | CA510466997 | ASXL1 | c.3309C>G (p.Ala1103=) c.3126C>G (p.Ala1042=) n.5662C>G c.1869+1440C>G (n.1869+1440C>G) c.3294C>G (p.Ala1098=) c.3306C>G (p.Ala1102=) c.3279C>G (p.Ala1093=) c.3225C>G (p.Ala1075=) c.2625C>G (p.Ala875=) c.3573C>G (p.Ala1191=) c.3570C>G (p.Ala1190=) c.3489C>G (p.Ala1163=) c.3420C>G (p.Ala1140=) c.3288C>G (p.Ala1096=) c.3156C>G (p.Ala1052=) | |
20 | g.32436021C>T | CA510466998 | ASXL1 | c.3309C>T (p.Ala1103=) c.3126C>T (p.Ala1042=) n.5662C>T c.1869+1440C>T (n.1869+1440C>T) c.3294C>T (p.Ala1098=) c.3306C>T (p.Ala1102=) c.3279C>T (p.Ala1093=) c.3225C>T (p.Ala1075=) c.2625C>T (p.Ala875=) c.3573C>T (p.Ala1191=) c.3570C>T (p.Ala1190=) c.3489C>T (p.Ala1163=) c.3420C>T (p.Ala1140=) c.3288C>T (p.Ala1096=) c.3156C>T (p.Ala1052=) | dbSNP gnomAD v4 |
20 | g.32436022A= | CA2360293496 | ASXL1 | c.3310A= (p.Thr1104=) c.3127A= (p.Thr1043=) n.5663A= c.1869+1441A= (n.1869+1441A=) c.3295A= (p.Thr1099=) c.3307A= (p.Thr1103=) c.3280A= (p.Thr1094=) c.3226A= (p.Thr1076=) c.2626A= (p.Thr876=) c.3574A= (p.Thr1192=) c.3571A= (p.Thr1191=) c.3490A= (p.Thr1164=) c.3421A= (p.Thr1141=) c.3289A= (p.Thr1097=) c.3157A= (p.Thr1053=) | |
20 | g.32436022A>C | CA408562791 | ASXL1 | c.3310A>C (p.Thr1104Pro) c.3127A>C (p.Thr1043Pro) n.5663A>C c.1869+1441A>C (n.1869+1441A>C) c.3295A>C (p.Thr1099Pro) c.3307A>C (p.Thr1103Pro) c.3280A>C (p.Thr1094Pro) c.3226A>C (p.Thr1076Pro) c.2626A>C (p.Thr876Pro) c.3574A>C (p.Thr1192Pro) c.3571A>C (p.Thr1191Pro) c.3490A>C (p.Thr1164Pro) c.3421A>C (p.Thr1141Pro) c.3289A>C (p.Thr1097Pro) c.3157A>C (p.Thr1053Pro) | |
20 | g.32436022A>G | CA313926342 | ASXL1 | c.3310A>G (p.Thr1104Ala) c.3127A>G (p.Thr1043Ala) n.5663A>G c.1869+1441A>G (n.1869+1441A>G) c.3295A>G (p.Thr1099Ala) c.3307A>G (p.Thr1103Ala) c.3280A>G (p.Thr1094Ala) c.3226A>G (p.Thr1076Ala) c.2626A>G (p.Thr876Ala) c.3574A>G (p.Thr1192Ala) c.3571A>G (p.Thr1191Ala) c.3490A>G (p.Thr1164Ala) c.3421A>G (p.Thr1141Ala) c.3289A>G (p.Thr1097Ala) c.3157A>G (p.Thr1053Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436022A>T | CA408562792 | ASXL1 | c.3310A>T (p.Thr1104Ser) c.3127A>T (p.Thr1043Ser) n.5663A>T c.1869+1441A>T (n.1869+1441A>T) c.3295A>T (p.Thr1099Ser) c.3307A>T (p.Thr1103Ser) c.3280A>T (p.Thr1094Ser) c.3226A>T (p.Thr1076Ser) c.2626A>T (p.Thr876Ser) c.3574A>T (p.Thr1192Ser) c.3571A>T (p.Thr1191Ser) c.3490A>T (p.Thr1164Ser) c.3421A>T (p.Thr1141Ser) c.3289A>T (p.Thr1097Ser) c.3157A>T (p.Thr1053Ser) | |
20 | g.32436024_32436027dup | CA2695202555 | ASXL1 | c.3312_3315dup (p.Pro1106Ter) c.3129_3132dup (p.Pro1045Ter) n.5665_5668dup c.1869+1443_1869+1446dup (n.1869+1443_1869+1446dup) c.3297_3300dup (p.Pro1101Ter) c.3309_3312dup (p.Pro1105Ter) c.3282_3285dup (p.Pro1096Ter) c.3228_3231dup (p.Pro1078Ter) c.2628_2631dup (p.Pro878Ter) c.3576_3579dup (p.Pro1194Ter) c.3573_3576dup (p.Pro1193Ter) c.3492_3495dup (p.Pro1166Ter) c.3423_3426dup (p.Pro1143Ter) c.3291_3294dup (p.Pro1099Ter) c.3159_3162dup (p.Pro1055Ter) | |
20 | g.32436023C>A | CA408562793 | ASXL1 | c.3311C>A (p.Thr1104Asn) c.3128C>A (p.Thr1043Asn) n.5664C>A c.1869+1442C>A (n.1869+1442C>A) c.3296C>A (p.Thr1099Asn) c.3308C>A (p.Thr1103Asn) c.3281C>A (p.Thr1094Asn) c.3227C>A (p.Thr1076Asn) c.2627C>A (p.Thr876Asn) c.3575C>A (p.Thr1192Asn) c.3572C>A (p.Thr1191Asn) c.3491C>A (p.Thr1164Asn) c.3422C>A (p.Thr1141Asn) c.3290C>A (p.Thr1097Asn) c.3158C>A (p.Thr1053Asn) | |
20 | g.32436023C= | CA2360293497 | ASXL1 | c.3311C= (p.Thr1104=) c.3128C= (p.Thr1043=) n.5664C= c.1869+1442C= (n.1869+1442C=) c.3296C= (p.Thr1099=) c.3308C= (p.Thr1103=) c.3281C= (p.Thr1094=) c.3227C= (p.Thr1076=) c.2627C= (p.Thr876=) c.3575C= (p.Thr1192=) c.3572C= (p.Thr1191=) c.3491C= (p.Thr1164=) c.3422C= (p.Thr1141=) c.3290C= (p.Thr1097=) c.3158C= (p.Thr1053=) | |
20 | g.32436023C>G | CA9808790 | ASXL1 | c.3311C>G (p.Thr1104Ser) c.3128C>G (p.Thr1043Ser) n.5664C>G c.1869+1442C>G (n.1869+1442C>G) c.3296C>G (p.Thr1099Ser) c.3308C>G (p.Thr1103Ser) c.3281C>G (p.Thr1094Ser) c.3227C>G (p.Thr1076Ser) c.2627C>G (p.Thr876Ser) c.3575C>G (p.Thr1192Ser) c.3572C>G (p.Thr1191Ser) c.3491C>G (p.Thr1164Ser) c.3422C>G (p.Thr1141Ser) c.3290C>G (p.Thr1097Ser) c.3158C>G (p.Thr1053Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436023C>T | CA408562794 | ASXL1 | c.3311C>T (p.Thr1104Ile) c.3128C>T (p.Thr1043Ile) n.5664C>T c.1869+1442C>T (n.1869+1442C>T) c.3296C>T (p.Thr1099Ile) c.3308C>T (p.Thr1103Ile) c.3281C>T (p.Thr1094Ile) c.3227C>T (p.Thr1076Ile) c.2627C>T (p.Thr876Ile) c.3575C>T (p.Thr1192Ile) c.3572C>T (p.Thr1191Ile) c.3491C>T (p.Thr1164Ile) c.3422C>T (p.Thr1141Ile) c.3290C>T (p.Thr1097Ile) c.3158C>T (p.Thr1053Ile) | gnomAD v4 |
20 | g.32436024T>A | CA510467009 | ASXL1 | c.3312T>A (p.Thr1104=) c.3129T>A (p.Thr1043=) n.5665T>A c.1869+1443T>A (n.1869+1443T>A) c.3297T>A (p.Thr1099=) c.3309T>A (p.Thr1103=) c.3282T>A (p.Thr1094=) c.3228T>A (p.Thr1076=) c.2628T>A (p.Thr876=) c.3576T>A (p.Thr1192=) c.3573T>A (p.Thr1191=) c.3492T>A (p.Thr1164=) c.3423T>A (p.Thr1141=) c.3291T>A (p.Thr1097=) c.3159T>A (p.Thr1053=) | |
20 | g.32436024T>C | CA510467014 | ASXL1 | c.3312T>C (p.Thr1104=) c.3129T>C (p.Thr1043=) n.5665T>C c.1869+1443T>C (n.1869+1443T>C) c.3297T>C (p.Thr1099=) c.3309T>C (p.Thr1103=) c.3282T>C (p.Thr1094=) c.3228T>C (p.Thr1076=) c.2628T>C (p.Thr876=) c.3576T>C (p.Thr1192=) c.3573T>C (p.Thr1191=) c.3492T>C (p.Thr1164=) c.3423T>C (p.Thr1141=) c.3291T>C (p.Thr1097=) c.3159T>C (p.Thr1053=) | |
20 | g.32436024T>G | CA510467015 | ASXL1 | c.3312T>G (p.Thr1104=) c.3129T>G (p.Thr1043=) n.5665T>G c.1869+1443T>G (n.1869+1443T>G) c.3297T>G (p.Thr1099=) c.3309T>G (p.Thr1103=) c.3282T>G (p.Thr1094=) c.3228T>G (p.Thr1076=) c.2628T>G (p.Thr876=) c.3576T>G (p.Thr1192=) c.3573T>G (p.Thr1191=) c.3492T>G (p.Thr1164=) c.3423T>G (p.Thr1141=) c.3291T>G (p.Thr1097=) c.3159T>G (p.Thr1053=) | |
20 | g.32436025A= | CA2360293498 | ASXL1 | c.3313A= (p.Asn1105=) c.3130A= (p.Asn1044=) n.5666A= c.1869+1444A= (n.1869+1444A=) c.3298A= (p.Asn1100=) c.3310A= (p.Asn1104=) c.3283A= (p.Asn1095=) c.3229A= (p.Asn1077=) c.2629A= (p.Asn877=) c.3577A= (p.Asn1193=) c.3574A= (p.Asn1192=) c.3493A= (p.Asn1165=) c.3424A= (p.Asn1142=) c.3292A= (p.Asn1098=) c.3160A= (p.Asn1054=) | |
20 | g.32436025A>C | CA408562795 | ASXL1 | c.3313A>C (p.Asn1105His) c.3130A>C (p.Asn1044His) n.5666A>C c.1869+1444A>C (n.1869+1444A>C) c.3298A>C (p.Asn1100His) c.3310A>C (p.Asn1104His) c.3283A>C (p.Asn1095His) c.3229A>C (p.Asn1077His) c.2629A>C (p.Asn877His) c.3577A>C (p.Asn1193His) c.3574A>C (p.Asn1192His) c.3493A>C (p.Asn1165His) c.3424A>C (p.Asn1142His) c.3292A>C (p.Asn1098His) c.3160A>C (p.Asn1054His) | |
20 | g.32436025A>G | CA408562796 | ASXL1 | c.3313A>G (p.Asn1105Asp) c.3130A>G (p.Asn1044Asp) n.5666A>G c.1869+1444A>G (n.1869+1444A>G) c.3298A>G (p.Asn1100Asp) c.3310A>G (p.Asn1104Asp) c.3283A>G (p.Asn1095Asp) c.3229A>G (p.Asn1077Asp) c.2629A>G (p.Asn877Asp) c.3577A>G (p.Asn1193Asp) c.3574A>G (p.Asn1192Asp) c.3493A>G (p.Asn1165Asp) c.3424A>G (p.Asn1142Asp) c.3292A>G (p.Asn1098Asp) c.3160A>G (p.Asn1054Asp) | |
20 | g.32436025A>T | CA9808791 | ASXL1 | c.3313A>T (p.Asn1105Tyr) c.3130A>T (p.Asn1044Tyr) n.5666A>T c.1869+1444A>T (n.1869+1444A>T) c.3298A>T (p.Asn1100Tyr) c.3310A>T (p.Asn1104Tyr) c.3283A>T (p.Asn1095Tyr) c.3229A>T (p.Asn1077Tyr) c.2629A>T (p.Asn877Tyr) c.3577A>T (p.Asn1193Tyr) c.3574A>T (p.Asn1192Tyr) c.3493A>T (p.Asn1165Tyr) c.3424A>T (p.Asn1142Tyr) c.3292A>T (p.Asn1098Tyr) c.3160A>T (p.Asn1054Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436026A>C | CA408562797 | ASXL1 | c.3314A>C (p.Asn1105Thr) c.3131A>C (p.Asn1044Thr) n.5667A>C c.1869+1445A>C (n.1869+1445A>C) c.3299A>C (p.Asn1100Thr) c.3311A>C (p.Asn1104Thr) c.3284A>C (p.Asn1095Thr) c.3230A>C (p.Asn1077Thr) c.2630A>C (p.Asn877Thr) c.3578A>C (p.Asn1193Thr) c.3575A>C (p.Asn1192Thr) c.3494A>C (p.Asn1165Thr) c.3425A>C (p.Asn1142Thr) c.3293A>C (p.Asn1098Thr) c.3161A>C (p.Asn1054Thr) | |
20 | g.32436026A>G | CA408562798 | ASXL1 | c.3314A>G (p.Asn1105Ser) c.3131A>G (p.Asn1044Ser) n.5667A>G c.1869+1445A>G (n.1869+1445A>G) c.3299A>G (p.Asn1100Ser) c.3311A>G (p.Asn1104Ser) c.3284A>G (p.Asn1095Ser) c.3230A>G (p.Asn1077Ser) c.2630A>G (p.Asn877Ser) c.3578A>G (p.Asn1193Ser) c.3575A>G (p.Asn1192Ser) c.3494A>G (p.Asn1165Ser) c.3425A>G (p.Asn1142Ser) c.3293A>G (p.Asn1098Ser) c.3161A>G (p.Asn1054Ser) | |
20 | g.32436026A>T | CA408562799 | ASXL1 | c.3314A>T (p.Asn1105Ile) c.3131A>T (p.Asn1044Ile) n.5667A>T c.1869+1445A>T (n.1869+1445A>T) c.3299A>T (p.Asn1100Ile) c.3311A>T (p.Asn1104Ile) c.3284A>T (p.Asn1095Ile) c.3230A>T (p.Asn1077Ile) c.2630A>T (p.Asn877Ile) c.3578A>T (p.Asn1193Ile) c.3575A>T (p.Asn1192Ile) c.3494A>T (p.Asn1165Ile) c.3425A>T (p.Asn1142Ile) c.3293A>T (p.Asn1098Ile) c.3161A>T (p.Asn1054Ile) | |
20 | g.32436027C>A | CA408562801 | ASXL1 | c.3315C>A (p.Asn1105Lys) c.3132C>A (p.Asn1044Lys) n.5668C>A c.1869+1446C>A (n.1869+1446C>A) c.3300C>A (p.Asn1100Lys) c.3312C>A (p.Asn1104Lys) c.3285C>A (p.Asn1095Lys) c.3231C>A (p.Asn1077Lys) c.2631C>A (p.Asn877Lys) c.3579C>A (p.Asn1193Lys) c.3576C>A (p.Asn1192Lys) c.3495C>A (p.Asn1165Lys) c.3426C>A (p.Asn1142Lys) c.3294C>A (p.Asn1098Lys) c.3162C>A (p.Asn1054Lys) | |
20 | g.32436027C= | CA2360293499 | ASXL1 | c.3315C= (p.Asn1105=) c.3132C= (p.Asn1044=) n.5668C= c.1869+1446C= (n.1869+1446C=) c.3300C= (p.Asn1100=) c.3312C= (p.Asn1104=) c.3285C= (p.Asn1095=) c.3231C= (p.Asn1077=) c.2631C= (p.Asn877=) c.3579C= (p.Asn1193=) c.3576C= (p.Asn1192=) c.3495C= (p.Asn1165=) c.3426C= (p.Asn1142=) c.3294C= (p.Asn1098=) c.3162C= (p.Asn1054=) | |
20 | g.32436027C>G | CA408562800 | ASXL1 | c.3315C>G (p.Asn1105Lys) c.3132C>G (p.Asn1044Lys) n.5668C>G c.1869+1446C>G (n.1869+1446C>G) c.3300C>G (p.Asn1100Lys) c.3312C>G (p.Asn1104Lys) c.3285C>G (p.Asn1095Lys) c.3231C>G (p.Asn1077Lys) c.2631C>G (p.Asn877Lys) c.3579C>G (p.Asn1193Lys) c.3576C>G (p.Asn1192Lys) c.3495C>G (p.Asn1165Lys) c.3426C>G (p.Asn1142Lys) c.3294C>G (p.Asn1098Lys) c.3162C>G (p.Asn1054Lys) | |
20 | g.32436027C>T | CA9808792 | ASXL1 | c.3315C>T (p.Asn1105=) c.3132C>T (p.Asn1044=) n.5668C>T c.1869+1446C>T (n.1869+1446C>T) c.3300C>T (p.Asn1100=) c.3312C>T (p.Asn1104=) c.3285C>T (p.Asn1095=) c.3231C>T (p.Asn1077=) c.2631C>T (p.Asn877=) c.3579C>T (p.Asn1193=) c.3576C>T (p.Asn1192=) c.3495C>T (p.Asn1165=) c.3426C>T (p.Asn1142=) c.3294C>T (p.Asn1098=) c.3162C>T (p.Asn1054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436028C>A | CA408562802 | ASXL1 | c.3316C>A (p.Pro1106Thr) c.3133C>A (p.Pro1045Thr) n.5669C>A c.1869+1447C>A (n.1869+1447C>A) c.3301C>A (p.Pro1101Thr) c.3313C>A (p.Pro1105Thr) c.3286C>A (p.Pro1096Thr) c.3232C>A (p.Pro1078Thr) c.2632C>A (p.Pro878Thr) c.3580C>A (p.Pro1194Thr) c.3577C>A (p.Pro1193Thr) c.3496C>A (p.Pro1166Thr) c.3427C>A (p.Pro1143Thr) c.3295C>A (p.Pro1099Thr) c.3163C>A (p.Pro1055Thr) | dbSNP |
20 | g.32436028C>G | CA408562803 | ASXL1 | c.3316C>G (p.Pro1106Ala) c.3133C>G (p.Pro1045Ala) n.5669C>G c.1869+1447C>G (n.1869+1447C>G) c.3301C>G (p.Pro1101Ala) c.3313C>G (p.Pro1105Ala) c.3286C>G (p.Pro1096Ala) c.3232C>G (p.Pro1078Ala) c.2632C>G (p.Pro878Ala) c.3580C>G (p.Pro1194Ala) c.3577C>G (p.Pro1193Ala) c.3496C>G (p.Pro1166Ala) c.3427C>G (p.Pro1143Ala) c.3295C>G (p.Pro1099Ala) c.3163C>G (p.Pro1055Ala) | dbSNP gnomAD v4 |
20 | g.32436028C>T | CA408562804 | ASXL1 | c.3316C>T (p.Pro1106Ser) c.3133C>T (p.Pro1045Ser) n.5669C>T c.1869+1447C>T (n.1869+1447C>T) c.3301C>T (p.Pro1101Ser) c.3313C>T (p.Pro1105Ser) c.3286C>T (p.Pro1096Ser) c.3232C>T (p.Pro1078Ser) c.2632C>T (p.Pro878Ser) c.3580C>T (p.Pro1194Ser) c.3577C>T (p.Pro1193Ser) c.3496C>T (p.Pro1166Ser) c.3427C>T (p.Pro1143Ser) c.3295C>T (p.Pro1099Ser) c.3163C>T (p.Pro1055Ser) | |
20 | g.32436029C>A | CA408562805 | ASXL1 | c.3317C>A (p.Pro1106Gln) c.3134C>A (p.Pro1045Gln) n.5670C>A c.1869+1448C>A (n.1869+1448C>A) c.3302C>A (p.Pro1101Gln) c.3314C>A (p.Pro1105Gln) c.3287C>A (p.Pro1096Gln) c.3233C>A (p.Pro1078Gln) c.2633C>A (p.Pro878Gln) c.3581C>A (p.Pro1194Gln) c.3578C>A (p.Pro1193Gln) c.3497C>A (p.Pro1166Gln) c.3428C>A (p.Pro1143Gln) c.3296C>A (p.Pro1099Gln) c.3164C>A (p.Pro1055Gln) | dbSNP |
20 | g.32436029C>G | CA408562806 | ASXL1 | c.3317C>G (p.Pro1106Arg) c.3134C>G (p.Pro1045Arg) n.5670C>G c.1869+1448C>G (n.1869+1448C>G) c.3302C>G (p.Pro1101Arg) c.3314C>G (p.Pro1105Arg) c.3287C>G (p.Pro1096Arg) c.3233C>G (p.Pro1078Arg) c.2633C>G (p.Pro878Arg) c.3581C>G (p.Pro1194Arg) c.3578C>G (p.Pro1193Arg) c.3497C>G (p.Pro1166Arg) c.3428C>G (p.Pro1143Arg) c.3296C>G (p.Pro1099Arg) c.3164C>G (p.Pro1055Arg) | |
20 | g.32436029C>T | CA408562807 | ASXL1 | c.3317C>T (p.Pro1106Leu) c.3134C>T (p.Pro1045Leu) n.5670C>T c.1869+1448C>T (n.1869+1448C>T) c.3302C>T (p.Pro1101Leu) c.3314C>T (p.Pro1105Leu) c.3287C>T (p.Pro1096Leu) c.3233C>T (p.Pro1078Leu) c.2633C>T (p.Pro878Leu) c.3581C>T (p.Pro1194Leu) c.3578C>T (p.Pro1193Leu) c.3497C>T (p.Pro1166Leu) c.3428C>T (p.Pro1143Leu) c.3296C>T (p.Pro1099Leu) c.3164C>T (p.Pro1055Leu) | |
20 | g.32436030A>C | CA510467028 | ASXL1 | c.3318A>C (p.Pro1106=) c.3135A>C (p.Pro1045=) n.5671A>C c.1869+1449A>C (n.1869+1449A>C) c.3303A>C (p.Pro1101=) c.3315A>C (p.Pro1105=) c.3288A>C (p.Pro1096=) c.3234A>C (p.Pro1078=) c.2634A>C (p.Pro878=) c.3582A>C (p.Pro1194=) c.3579A>C (p.Pro1193=) c.3498A>C (p.Pro1166=) c.3429A>C (p.Pro1143=) c.3297A>C (p.Pro1099=) c.3165A>C (p.Pro1055=) | |
20 | g.32436030A>G | CA510467029 | ASXL1 | c.3318A>G (p.Pro1106=) c.3135A>G (p.Pro1045=) n.5671A>G c.1869+1449A>G (n.1869+1449A>G) c.3303A>G (p.Pro1101=) c.3315A>G (p.Pro1105=) c.3288A>G (p.Pro1096=) c.3234A>G (p.Pro1078=) c.2634A>G (p.Pro878=) c.3582A>G (p.Pro1194=) c.3579A>G (p.Pro1193=) c.3498A>G (p.Pro1166=) c.3429A>G (p.Pro1143=) c.3297A>G (p.Pro1099=) c.3165A>G (p.Pro1055=) | gnomAD v4 |
20 | g.32436030A>T | CA510467030 | ASXL1 | c.3318A>T (p.Pro1106=) c.3135A>T (p.Pro1045=) n.5671A>T c.1869+1449A>T (n.1869+1449A>T) c.3303A>T (p.Pro1101=) c.3315A>T (p.Pro1105=) c.3288A>T (p.Pro1096=) c.3234A>T (p.Pro1078=) c.2634A>T (p.Pro878=) c.3582A>T (p.Pro1194=) c.3579A>T (p.Pro1193=) c.3498A>T (p.Pro1166=) c.3429A>T (p.Pro1143=) c.3297A>T (p.Pro1099=) c.3165A>T (p.Pro1055=) | dbSNP |
20 | g.32436031C>A | CA408562808 | ASXL1 | c.3319C>A (p.Leu1107Ile) c.3136C>A (p.Leu1046Ile) n.5672C>A c.1869+1450C>A (n.1869+1450C>A) c.3304C>A (p.Leu1102Ile) c.3316C>A (p.Leu1106Ile) c.3289C>A (p.Leu1097Ile) c.3235C>A (p.Leu1079Ile) c.2635C>A (p.Leu879Ile) c.3583C>A (p.Leu1195Ile) c.3580C>A (p.Leu1194Ile) c.3499C>A (p.Leu1167Ile) c.3430C>A (p.Leu1144Ile) c.3298C>A (p.Leu1100Ile) c.3166C>A (p.Leu1056Ile) | |
20 | g.32436031C>G | CA408562809 | ASXL1 | c.3319C>G (p.Leu1107Val) c.3136C>G (p.Leu1046Val) n.5672C>G c.1869+1450C>G (n.1869+1450C>G) c.3304C>G (p.Leu1102Val) c.3316C>G (p.Leu1106Val) c.3289C>G (p.Leu1097Val) c.3235C>G (p.Leu1079Val) c.2635C>G (p.Leu879Val) c.3583C>G (p.Leu1195Val) c.3580C>G (p.Leu1194Val) c.3499C>G (p.Leu1167Val) c.3430C>G (p.Leu1144Val) c.3298C>G (p.Leu1100Val) c.3166C>G (p.Leu1056Val) | gnomAD v4 |
20 | g.32436031C>T | CA408562810 | ASXL1 | c.3319C>T (p.Leu1107Phe) c.3136C>T (p.Leu1046Phe) n.5672C>T c.1869+1450C>T (n.1869+1450C>T) c.3304C>T (p.Leu1102Phe) c.3316C>T (p.Leu1106Phe) c.3289C>T (p.Leu1097Phe) c.3235C>T (p.Leu1079Phe) c.2635C>T (p.Leu879Phe) c.3583C>T (p.Leu1195Phe) c.3580C>T (p.Leu1194Phe) c.3499C>T (p.Leu1167Phe) c.3430C>T (p.Leu1144Phe) c.3298C>T (p.Leu1100Phe) c.3166C>T (p.Leu1056Phe) | gnomAD v4 COSMIC |
20 | g.32436032T>A | CA408562811 | ASXL1 | c.3320T>A (p.Leu1107His) c.3137T>A (p.Leu1046His) n.5673T>A c.1869+1451T>A (n.1869+1451T>A) c.3305T>A (p.Leu1102His) c.3317T>A (p.Leu1106His) c.3290T>A (p.Leu1097His) c.3236T>A (p.Leu1079His) c.2636T>A (p.Leu879His) c.3584T>A (p.Leu1195His) c.3581T>A (p.Leu1194His) c.3500T>A (p.Leu1167His) c.3431T>A (p.Leu1144His) c.3299T>A (p.Leu1100His) c.3167T>A (p.Leu1056His) | |
20 | g.32436032T>C | CA408562812 | ASXL1 | c.3320T>C (p.Leu1107Pro) c.3137T>C (p.Leu1046Pro) n.5673T>C c.1869+1451T>C (n.1869+1451T>C) c.3305T>C (p.Leu1102Pro) c.3317T>C (p.Leu1106Pro) c.3290T>C (p.Leu1097Pro) c.3236T>C (p.Leu1079Pro) c.2636T>C (p.Leu879Pro) c.3584T>C (p.Leu1195Pro) c.3581T>C (p.Leu1194Pro) c.3500T>C (p.Leu1167Pro) c.3431T>C (p.Leu1144Pro) c.3299T>C (p.Leu1100Pro) c.3167T>C (p.Leu1056Pro) | |
20 | g.32436032T>G | CA408562813 | ASXL1 | c.3320T>G (p.Leu1107Arg) c.3137T>G (p.Leu1046Arg) n.5673T>G c.1869+1451T>G (n.1869+1451T>G) c.3305T>G (p.Leu1102Arg) c.3317T>G (p.Leu1106Arg) c.3290T>G (p.Leu1097Arg) c.3236T>G (p.Leu1079Arg) c.2636T>G (p.Leu879Arg) c.3584T>G (p.Leu1195Arg) c.3581T>G (p.Leu1194Arg) c.3500T>G (p.Leu1167Arg) c.3431T>G (p.Leu1144Arg) c.3299T>G (p.Leu1100Arg) c.3167T>G (p.Leu1056Arg) | |
20 | g.32436033T>A | CA510467041 | ASXL1 | c.3321T>A (p.Leu1107=) c.3138T>A (p.Leu1046=) n.5674T>A c.1869+1452T>A (n.1869+1452T>A) c.3306T>A (p.Leu1102=) c.3318T>A (p.Leu1106=) c.3291T>A (p.Leu1097=) c.3237T>A (p.Leu1079=) c.2637T>A (p.Leu879=) c.3585T>A (p.Leu1195=) c.3582T>A (p.Leu1194=) c.3501T>A (p.Leu1167=) c.3432T>A (p.Leu1144=) c.3300T>A (p.Leu1100=) c.3168T>A (p.Leu1056=) | |
20 | g.32436033T>C | CA9808793 | ASXL1 | c.3321T>C (p.Leu1107=) c.3138T>C (p.Leu1046=) n.5674T>C c.1869+1452T>C (n.1869+1452T>C) c.3306T>C (p.Leu1102=) c.3318T>C (p.Leu1106=) c.3291T>C (p.Leu1097=) c.3237T>C (p.Leu1079=) c.2637T>C (p.Leu879=) c.3585T>C (p.Leu1195=) c.3582T>C (p.Leu1194=) c.3501T>C (p.Leu1167=) c.3432T>C (p.Leu1144=) c.3300T>C (p.Leu1100=) c.3168T>C (p.Leu1056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436033T>G | CA510467044 | ASXL1 | c.3321T>G (p.Leu1107=) c.3138T>G (p.Leu1046=) n.5674T>G c.1869+1452T>G (n.1869+1452T>G) c.3306T>G (p.Leu1102=) c.3318T>G (p.Leu1106=) c.3291T>G (p.Leu1097=) c.3237T>G (p.Leu1079=) c.2637T>G (p.Leu879=) c.3585T>G (p.Leu1195=) c.3582T>G (p.Leu1194=) c.3501T>G (p.Leu1167=) c.3432T>G (p.Leu1144=) c.3300T>G (p.Leu1100=) c.3168T>G (p.Leu1056=) | |
20 | g.32436033T= | CA2360293500 | ASXL1 | c.3321T= (p.Leu1107=) c.3138T= (p.Leu1046=) n.5674T= c.1869+1452T= (n.1869+1452T=) c.3306T= (p.Leu1102=) c.3318T= (p.Leu1106=) c.3291T= (p.Leu1097=) c.3237T= (p.Leu1079=) c.2637T= (p.Leu879=) c.3585T= (p.Leu1195=) c.3582T= (p.Leu1194=) c.3501T= (p.Leu1167=) c.3432T= (p.Leu1144=) c.3300T= (p.Leu1100=) c.3168T= (p.Leu1056=) | |
20 | g.32436034G>A | CA408562816 | ASXL1 | c.3322G>A (p.Val1108Met) c.3139G>A (p.Val1047Met) n.5675G>A c.1869+1453G>A (n.1869+1453G>A) c.3307G>A (p.Val1103Met) c.3319G>A (p.Val1107Met) c.3292G>A (p.Val1098Met) c.3238G>A (p.Val1080Met) c.2638G>A (p.Val880Met) c.3586G>A (p.Val1196Met) c.3583G>A (p.Val1195Met) c.3502G>A (p.Val1168Met) c.3433G>A (p.Val1145Met) c.3301G>A (p.Val1101Met) c.3169G>A (p.Val1057Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436034G>C | CA408562814 | ASXL1 | c.3322G>C (p.Val1108Leu) c.3139G>C (p.Val1047Leu) n.5675G>C c.1869+1453G>C (n.1869+1453G>C) c.3307G>C (p.Val1103Leu) c.3319G>C (p.Val1107Leu) c.3292G>C (p.Val1098Leu) c.3238G>C (p.Val1080Leu) c.2638G>C (p.Val880Leu) c.3586G>C (p.Val1196Leu) c.3583G>C (p.Val1195Leu) c.3502G>C (p.Val1168Leu) c.3433G>C (p.Val1145Leu) c.3301G>C (p.Val1101Leu) c.3169G>C (p.Val1057Leu) | dbSNP gnomAD v4 |
20 | g.32436034G= | CA2360293501 | ASXL1 | c.3322G= (p.Val1108=) c.3139G= (p.Val1047=) n.5675G= c.1869+1453G= (n.1869+1453G=) c.3307G= (p.Val1103=) c.3319G= (p.Val1107=) c.3292G= (p.Val1098=) c.3238G= (p.Val1080=) c.2638G= (p.Val880=) c.3586G= (p.Val1196=) c.3583G= (p.Val1195=) c.3502G= (p.Val1168=) c.3433G= (p.Val1145=) c.3301G= (p.Val1101=) c.3169G= (p.Val1057=) | |
20 | g.32436034G>T | CA408562815 | ASXL1 | c.3322G>T (p.Val1108Leu) c.3139G>T (p.Val1047Leu) n.5675G>T c.1869+1453G>T (n.1869+1453G>T) c.3307G>T (p.Val1103Leu) c.3319G>T (p.Val1107Leu) c.3292G>T (p.Val1098Leu) c.3238G>T (p.Val1080Leu) c.2638G>T (p.Val880Leu) c.3586G>T (p.Val1196Leu) c.3583G>T (p.Val1195Leu) c.3502G>T (p.Val1168Leu) c.3433G>T (p.Val1145Leu) c.3301G>T (p.Val1101Leu) c.3169G>T (p.Val1057Leu) | |
20 | g.32436035T>A | CA408562817 | ASXL1 | c.3323T>A (p.Val1108Glu) c.3140T>A (p.Val1047Glu) n.5676T>A c.1869+1454T>A (n.1869+1454T>A) c.3308T>A (p.Val1103Glu) c.3320T>A (p.Val1107Glu) c.3293T>A (p.Val1098Glu) c.3239T>A (p.Val1080Glu) c.2639T>A (p.Val880Glu) c.3587T>A (p.Val1196Glu) c.3584T>A (p.Val1195Glu) c.3503T>A (p.Val1168Glu) c.3434T>A (p.Val1145Glu) c.3302T>A (p.Val1101Glu) c.3170T>A (p.Val1057Glu) | |
20 | g.32436035T>C | CA408562818 | ASXL1 | c.3323T>C (p.Val1108Ala) c.3140T>C (p.Val1047Ala) n.5676T>C c.1869+1454T>C (n.1869+1454T>C) c.3308T>C (p.Val1103Ala) c.3320T>C (p.Val1107Ala) c.3293T>C (p.Val1098Ala) c.3239T>C (p.Val1080Ala) c.2639T>C (p.Val880Ala) c.3587T>C (p.Val1196Ala) c.3584T>C (p.Val1195Ala) c.3503T>C (p.Val1168Ala) c.3434T>C (p.Val1145Ala) c.3302T>C (p.Val1101Ala) c.3170T>C (p.Val1057Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436035T>G | CA408562819 | ASXL1 | c.3323T>G (p.Val1108Gly) c.3140T>G (p.Val1047Gly) n.5676T>G c.1869+1454T>G (n.1869+1454T>G) c.3308T>G (p.Val1103Gly) c.3320T>G (p.Val1107Gly) c.3293T>G (p.Val1098Gly) c.3239T>G (p.Val1080Gly) c.2639T>G (p.Val880Gly) c.3587T>G (p.Val1196Gly) c.3584T>G (p.Val1195Gly) c.3503T>G (p.Val1168Gly) c.3434T>G (p.Val1145Gly) c.3302T>G (p.Val1101Gly) c.3170T>G (p.Val1057Gly) | ClinVar dbSNP |
20 | g.32436035T= | CA2360293502 | ASXL1 | c.3323T= (p.Val1108=) c.3140T= (p.Val1047=) n.5676T= c.1869+1454T= (n.1869+1454T=) c.3308T= (p.Val1103=) c.3320T= (p.Val1107=) c.3293T= (p.Val1098=) c.3239T= (p.Val1080=) c.2639T= (p.Val880=) c.3587T= (p.Val1196=) c.3584T= (p.Val1195=) c.3503T= (p.Val1168=) c.3434T= (p.Val1145=) c.3302T= (p.Val1101=) c.3170T= (p.Val1057=) | |
20 | g.32436036G>A | CA510467049 | ASXL1 | c.3324G>A (p.Val1108=) c.3141G>A (p.Val1047=) n.5677G>A c.1869+1455G>A (n.1869+1455G>A) c.3309G>A (p.Val1103=) c.3321G>A (p.Val1107=) c.3294G>A (p.Val1098=) c.3240G>A (p.Val1080=) c.2640G>A (p.Val880=) c.3588G>A (p.Val1196=) c.3585G>A (p.Val1195=) c.3504G>A (p.Val1168=) c.3435G>A (p.Val1145=) c.3303G>A (p.Val1101=) c.3171G>A (p.Val1057=) | |
20 | g.32436036G>C | CA510467051 | ASXL1 | c.3324G>C (p.Val1108=) c.3141G>C (p.Val1047=) n.5677G>C c.1869+1455G>C (n.1869+1455G>C) c.3309G>C (p.Val1103=) c.3321G>C (p.Val1107=) c.3294G>C (p.Val1098=) c.3240G>C (p.Val1080=) c.2640G>C (p.Val880=) c.3588G>C (p.Val1196=) c.3585G>C (p.Val1195=) c.3504G>C (p.Val1168=) c.3435G>C (p.Val1145=) c.3303G>C (p.Val1101=) c.3171G>C (p.Val1057=) | |
20 | g.32436036G>T | CA510467052 | ASXL1 | c.3324G>T (p.Val1108=) c.3141G>T (p.Val1047=) n.5677G>T c.1869+1455G>T (n.1869+1455G>T) c.3309G>T (p.Val1103=) c.3321G>T (p.Val1107=) c.3294G>T (p.Val1098=) c.3240G>T (p.Val1080=) c.2640G>T (p.Val880=) c.3588G>T (p.Val1196=) c.3585G>T (p.Val1195=) c.3504G>T (p.Val1168=) c.3435G>T (p.Val1145=) c.3303G>T (p.Val1101=) c.3171G>T (p.Val1057=) | |
20 | g.32436037A= | CA2360293503 | ASXL1 | c.3325A= (p.Met1109=) c.3142A= (p.Met1048=) n.5678A= c.1869+1456A= (n.1869+1456A=) c.3310A= (p.Met1104=) c.3322A= (p.Met1108=) c.3295A= (p.Met1099=) c.3241A= (p.Met1081=) c.2641A= (p.Met881=) c.3589A= (p.Met1197=) c.3586A= (p.Met1196=) c.3505A= (p.Met1169=) c.3436A= (p.Met1146=) c.3304A= (p.Met1102=) c.3172A= (p.Met1058=) | |
20 | g.32436037A>C | CA408562820 | ASXL1 | c.3325A>C (p.Met1109Leu) c.3142A>C (p.Met1048Leu) n.5678A>C c.1869+1456A>C (n.1869+1456A>C) c.3310A>C (p.Met1104Leu) c.3322A>C (p.Met1108Leu) c.3295A>C (p.Met1099Leu) c.3241A>C (p.Met1081Leu) c.2641A>C (p.Met881Leu) c.3589A>C (p.Met1197Leu) c.3586A>C (p.Met1196Leu) c.3505A>C (p.Met1169Leu) c.3436A>C (p.Met1146Leu) c.3304A>C (p.Met1102Leu) c.3172A>C (p.Met1058Leu) | |
20 | g.32436037A>G | CA408562821 | ASXL1 | c.3325A>G (p.Met1109Val) c.3142A>G (p.Met1048Val) n.5678A>G c.1869+1456A>G (n.1869+1456A>G) c.3310A>G (p.Met1104Val) c.3322A>G (p.Met1108Val) c.3295A>G (p.Met1099Val) c.3241A>G (p.Met1081Val) c.2641A>G (p.Met881Val) c.3589A>G (p.Met1197Val) c.3586A>G (p.Met1196Val) c.3505A>G (p.Met1169Val) c.3436A>G (p.Met1146Val) c.3304A>G (p.Met1102Val) c.3172A>G (p.Met1058Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436037A>T | CA408562822 | ASXL1 | c.3325A>T (p.Met1109Leu) c.3142A>T (p.Met1048Leu) n.5678A>T c.1869+1456A>T (n.1869+1456A>T) c.3310A>T (p.Met1104Leu) c.3322A>T (p.Met1108Leu) c.3295A>T (p.Met1099Leu) c.3241A>T (p.Met1081Leu) c.2641A>T (p.Met881Leu) c.3589A>T (p.Met1197Leu) c.3586A>T (p.Met1196Leu) c.3505A>T (p.Met1169Leu) c.3436A>T (p.Met1146Leu) c.3304A>T (p.Met1102Leu) c.3172A>T (p.Met1058Leu) | gnomAD v4 |
20 | g.32436038T>A | CA408562823 | ASXL1 | c.3326T>A (p.Met1109Lys) c.3143T>A (p.Met1048Lys) n.5679T>A c.1869+1457T>A (n.1869+1457T>A) c.3311T>A (p.Met1104Lys) c.3323T>A (p.Met1108Lys) c.3296T>A (p.Met1099Lys) c.3242T>A (p.Met1081Lys) c.2642T>A (p.Met881Lys) c.3590T>A (p.Met1197Lys) c.3587T>A (p.Met1196Lys) c.3506T>A (p.Met1169Lys) c.3437T>A (p.Met1146Lys) c.3305T>A (p.Met1102Lys) c.3173T>A (p.Met1058Lys) | |
20 | g.32436038T>C | CA9808794 | ASXL1 | c.3326T>C (p.Met1109Thr) c.3143T>C (p.Met1048Thr) n.5679T>C c.1869+1457T>C (n.1869+1457T>C) c.3311T>C (p.Met1104Thr) c.3323T>C (p.Met1108Thr) c.3296T>C (p.Met1099Thr) c.3242T>C (p.Met1081Thr) c.2642T>C (p.Met881Thr) c.3590T>C (p.Met1197Thr) c.3587T>C (p.Met1196Thr) c.3506T>C (p.Met1169Thr) c.3437T>C (p.Met1146Thr) c.3305T>C (p.Met1102Thr) c.3173T>C (p.Met1058Thr) | dbSNP ExAC gnomAD v4 |
20 | g.32436038T>G | CA408562824 | ASXL1 | c.3326T>G (p.Met1109Arg) c.3143T>G (p.Met1048Arg) n.5679T>G c.1869+1457T>G (n.1869+1457T>G) c.3311T>G (p.Met1104Arg) c.3323T>G (p.Met1108Arg) c.3296T>G (p.Met1099Arg) c.3242T>G (p.Met1081Arg) c.2642T>G (p.Met881Arg) c.3590T>G (p.Met1197Arg) c.3587T>G (p.Met1196Arg) c.3506T>G (p.Met1169Arg) c.3437T>G (p.Met1146Arg) c.3305T>G (p.Met1102Arg) c.3173T>G (p.Met1058Arg) | |
20 | g.32436038T= | CA2360293504 | ASXL1 | c.3326T= (p.Met1109=) c.3143T= (p.Met1048=) n.5679T= c.1869+1457T= (n.1869+1457T=) c.3311T= (p.Met1104=) c.3323T= (p.Met1108=) c.3296T= (p.Met1099=) c.3242T= (p.Met1081=) c.2642T= (p.Met881=) c.3590T= (p.Met1197=) c.3587T= (p.Met1196=) c.3506T= (p.Met1169=) c.3437T= (p.Met1146=) c.3305T= (p.Met1102=) c.3173T= (p.Met1058=) | |
20 | g.32436039G>A | CA9808795 | ASXL1 | c.3327G>A (p.Met1109Ile) c.3144G>A (p.Met1048Ile) n.5680G>A c.1869+1458G>A (n.1869+1458G>A) c.3312G>A (p.Met1104Ile) c.3324G>A (p.Met1108Ile) c.3297G>A (p.Met1099Ile) c.3243G>A (p.Met1081Ile) c.2643G>A (p.Met881Ile) c.3591G>A (p.Met1197Ile) c.3588G>A (p.Met1196Ile) c.3507G>A (p.Met1169Ile) c.3438G>A (p.Met1146Ile) c.3306G>A (p.Met1102Ile) c.3174G>A (p.Met1058Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436039G>C | CA408562825 | ASXL1 | c.3327G>C (p.Met1109Ile) c.3144G>C (p.Met1048Ile) n.5680G>C c.1869+1458G>C (n.1869+1458G>C) c.3312G>C (p.Met1104Ile) c.3324G>C (p.Met1108Ile) c.3297G>C (p.Met1099Ile) c.3243G>C (p.Met1081Ile) c.2643G>C (p.Met881Ile) c.3591G>C (p.Met1197Ile) c.3588G>C (p.Met1196Ile) c.3507G>C (p.Met1169Ile) c.3438G>C (p.Met1146Ile) c.3306G>C (p.Met1102Ile) c.3174G>C (p.Met1058Ile) | |
20 | g.32436039G= | CA2360293505 | ASXL1 | c.3327G= (p.Met1109=) c.3144G= (p.Met1048=) n.5680G= c.1869+1458G= (n.1869+1458G=) c.3312G= (p.Met1104=) c.3324G= (p.Met1108=) c.3297G= (p.Met1099=) c.3243G= (p.Met1081=) c.2643G= (p.Met881=) c.3591G= (p.Met1197=) c.3588G= (p.Met1196=) c.3507G= (p.Met1169=) c.3438G= (p.Met1146=) c.3306G= (p.Met1102=) c.3174G= (p.Met1058=) | |
20 | g.32436039G>T | CA408562826 | ASXL1 | c.3327G>T (p.Met1109Ile) c.3144G>T (p.Met1048Ile) n.5680G>T c.1869+1458G>T (n.1869+1458G>T) c.3312G>T (p.Met1104Ile) c.3324G>T (p.Met1108Ile) c.3297G>T (p.Met1099Ile) c.3243G>T (p.Met1081Ile) c.2643G>T (p.Met881Ile) c.3591G>T (p.Met1197Ile) c.3588G>T (p.Met1196Ile) c.3507G>T (p.Met1169Ile) c.3438G>T (p.Met1146Ile) c.3306G>T (p.Met1102Ile) c.3174G>T (p.Met1058Ile) | |
20 | g.32436040C>A | CA408562828 | ASXL1 | c.3328C>A (p.Gln1110Lys) c.3145C>A (p.Gln1049Lys) n.5681C>A c.1869+1459C>A (n.1869+1459C>A) c.3313C>A (p.Gln1105Lys) c.3325C>A (p.Gln1109Lys) c.3298C>A (p.Gln1100Lys) c.3244C>A (p.Gln1082Lys) c.2644C>A (p.Gln882Lys) c.3592C>A (p.Gln1198Lys) c.3589C>A (p.Gln1197Lys) c.3508C>A (p.Gln1170Lys) c.3439C>A (p.Gln1147Lys) c.3307C>A (p.Gln1103Lys) c.3175C>A (p.Gln1059Lys) | |
20 | g.32436040C= | CA2360293506 | ASXL1 | c.3328C= (p.Gln1110=) c.3145C= (p.Gln1049=) n.5681C= c.1869+1459C= (n.1869+1459C=) c.3313C= (p.Gln1105=) c.3325C= (p.Gln1109=) c.3298C= (p.Gln1100=) c.3244C= (p.Gln1082=) c.2644C= (p.Gln882=) c.3592C= (p.Gln1198=) c.3589C= (p.Gln1197=) c.3508C= (p.Gln1170=) c.3439C= (p.Gln1147=) c.3307C= (p.Gln1103=) c.3175C= (p.Gln1059=) | |
20 | g.32436040C>G | CA9808796 | ASXL1 | c.3328C>G (p.Gln1110Glu) c.3145C>G (p.Gln1049Glu) n.5681C>G c.1869+1459C>G (n.1869+1459C>G) c.3313C>G (p.Gln1105Glu) c.3325C>G (p.Gln1109Glu) c.3298C>G (p.Gln1100Glu) c.3244C>G (p.Gln1082Glu) c.2644C>G (p.Gln882Glu) c.3592C>G (p.Gln1198Glu) c.3589C>G (p.Gln1197Glu) c.3508C>G (p.Gln1170Glu) c.3439C>G (p.Gln1147Glu) c.3307C>G (p.Gln1103Glu) c.3175C>G (p.Gln1059Glu) | dbSNP ExAC |
20 | g.32436040C>T | CA408562827 | ASXL1 | c.3328C>T (p.Gln1110Ter) c.3145C>T (p.Gln1049Ter) n.5681C>T c.1869+1459C>T (n.1869+1459C>T) c.3313C>T (p.Gln1105Ter) c.3325C>T (p.Gln1109Ter) c.3298C>T (p.Gln1100Ter) c.3244C>T (p.Gln1082Ter) c.2644C>T (p.Gln882Ter) c.3592C>T (p.Gln1198Ter) c.3589C>T (p.Gln1197Ter) c.3508C>T (p.Gln1170Ter) c.3439C>T (p.Gln1147Ter) c.3307C>T (p.Gln1103Ter) c.3175C>T (p.Gln1059Ter) | dbSNP |
20 | g.32436041A= | CA2360293507 | ASXL1 | c.3329A= (p.Gln1110=) c.3146A= (p.Gln1049=) n.5682A= c.1869+1460A= (n.1869+1460A=) c.3314A= (p.Gln1105=) c.3326A= (p.Gln1109=) c.3299A= (p.Gln1100=) c.3245A= (p.Gln1082=) c.2645A= (p.Gln882=) c.3593A= (p.Gln1198=) c.3590A= (p.Gln1197=) c.3509A= (p.Gln1170=) c.3440A= (p.Gln1147=) c.3308A= (p.Gln1103=) c.3176A= (p.Gln1059=) | |
20 | g.32436041A>C | CA408562830 | ASXL1 | c.3329A>C (p.Gln1110Pro) c.3146A>C (p.Gln1049Pro) n.5682A>C c.1869+1460A>C (n.1869+1460A>C) c.3314A>C (p.Gln1105Pro) c.3326A>C (p.Gln1109Pro) c.3299A>C (p.Gln1100Pro) c.3245A>C (p.Gln1082Pro) c.2645A>C (p.Gln882Pro) c.3593A>C (p.Gln1198Pro) c.3590A>C (p.Gln1197Pro) c.3509A>C (p.Gln1170Pro) c.3440A>C (p.Gln1147Pro) c.3308A>C (p.Gln1103Pro) c.3176A>C (p.Gln1059Pro) | |
20 | g.32436041A>G | CA408562829 | ASXL1 | c.3329A>G (p.Gln1110Arg) c.3146A>G (p.Gln1049Arg) n.5682A>G c.1869+1460A>G (n.1869+1460A>G) c.3314A>G (p.Gln1105Arg) c.3326A>G (p.Gln1109Arg) c.3299A>G (p.Gln1100Arg) c.3245A>G (p.Gln1082Arg) c.2645A>G (p.Gln882Arg) c.3593A>G (p.Gln1198Arg) c.3590A>G (p.Gln1197Arg) c.3509A>G (p.Gln1170Arg) c.3440A>G (p.Gln1147Arg) c.3308A>G (p.Gln1103Arg) c.3176A>G (p.Gln1059Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436041A>T | CA408562831 | ASXL1 | c.3329A>T (p.Gln1110Leu) c.3146A>T (p.Gln1049Leu) n.5682A>T c.1869+1460A>T (n.1869+1460A>T) c.3314A>T (p.Gln1105Leu) c.3326A>T (p.Gln1109Leu) c.3299A>T (p.Gln1100Leu) c.3245A>T (p.Gln1082Leu) c.2645A>T (p.Gln882Leu) c.3593A>T (p.Gln1198Leu) c.3590A>T (p.Gln1197Leu) c.3509A>T (p.Gln1170Leu) c.3440A>T (p.Gln1147Leu) c.3308A>T (p.Gln1103Leu) c.3176A>T (p.Gln1059Leu) | |
20 | g.32436042G>A | CA510467063 | ASXL1 | c.3330G>A (p.Gln1110=) c.3147G>A (p.Gln1049=) n.5683G>A c.1869+1461G>A (n.1869+1461G>A) c.3315G>A (p.Gln1105=) c.3327G>A (p.Gln1109=) c.3300G>A (p.Gln1100=) c.3246G>A (p.Gln1082=) c.2646G>A (p.Gln882=) c.3594G>A (p.Gln1198=) c.3591G>A (p.Gln1197=) c.3510G>A (p.Gln1170=) c.3441G>A (p.Gln1147=) c.3309G>A (p.Gln1103=) c.3177G>A (p.Gln1059=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436042G>C | CA408562832 | ASXL1 | c.3330G>C (p.Gln1110His) c.3147G>C (p.Gln1049His) n.5683G>C c.1869+1461G>C (n.1869+1461G>C) c.3315G>C (p.Gln1105His) c.3327G>C (p.Gln1109His) c.3300G>C (p.Gln1100His) c.3246G>C (p.Gln1082His) c.2646G>C (p.Gln882His) c.3594G>C (p.Gln1198His) c.3591G>C (p.Gln1197His) c.3510G>C (p.Gln1170His) c.3441G>C (p.Gln1147His) c.3309G>C (p.Gln1103His) c.3177G>C (p.Gln1059His) | |
20 | g.32436042G= | CA2360293508 | ASXL1 | c.3330G= (p.Gln1110=) c.3147G= (p.Gln1049=) n.5683G= c.1869+1461G= (n.1869+1461G=) c.3315G= (p.Gln1105=) c.3327G= (p.Gln1109=) c.3300G= (p.Gln1100=) c.3246G= (p.Gln1082=) c.2646G= (p.Gln882=) c.3594G= (p.Gln1198=) c.3591G= (p.Gln1197=) c.3510G= (p.Gln1170=) c.3441G= (p.Gln1147=) c.3309G= (p.Gln1103=) c.3177G= (p.Gln1059=) | |
20 | g.32436042G>T | CA408562833 | ASXL1 | c.3330G>T (p.Gln1110His) c.3147G>T (p.Gln1049His) n.5683G>T c.1869+1461G>T (n.1869+1461G>T) c.3315G>T (p.Gln1105His) c.3327G>T (p.Gln1109His) c.3300G>T (p.Gln1100His) c.3246G>T (p.Gln1082His) c.2646G>T (p.Gln882His) c.3594G>T (p.Gln1198His) c.3591G>T (p.Gln1197His) c.3510G>T (p.Gln1170His) c.3441G>T (p.Gln1147His) c.3309G>T (p.Gln1103His) c.3177G>T (p.Gln1059His) | |
20 | g.32436043T>A | CA408562834 | ASXL1 | c.3331T>A (p.Leu1111Met) c.3148T>A (p.Leu1050Met) n.5684T>A c.1869+1462T>A (n.1869+1462T>A) c.3316T>A (p.Leu1106Met) c.3328T>A (p.Leu1110Met) c.3301T>A (p.Leu1101Met) c.3247T>A (p.Leu1083Met) c.2647T>A (p.Leu883Met) c.3595T>A (p.Leu1199Met) c.3592T>A (p.Leu1198Met) c.3511T>A (p.Leu1171Met) c.3442T>A (p.Leu1148Met) c.3310T>A (p.Leu1104Met) c.3178T>A (p.Leu1060Met) | |
20 | g.32436043T>C | CA510467064 | ASXL1 | c.3331T>C (p.Leu1111=) c.3148T>C (p.Leu1050=) n.5684T>C c.1869+1462T>C (n.1869+1462T>C) c.3316T>C (p.Leu1106=) c.3328T>C (p.Leu1110=) c.3301T>C (p.Leu1101=) c.3247T>C (p.Leu1083=) c.2647T>C (p.Leu883=) c.3595T>C (p.Leu1199=) c.3592T>C (p.Leu1198=) c.3511T>C (p.Leu1171=) c.3442T>C (p.Leu1148=) c.3310T>C (p.Leu1104=) c.3178T>C (p.Leu1060=) | |
20 | g.32436043T>G | CA408562835 | ASXL1 | c.3331T>G (p.Leu1111Val) c.3148T>G (p.Leu1050Val) n.5684T>G c.1869+1462T>G (n.1869+1462T>G) c.3316T>G (p.Leu1106Val) c.3328T>G (p.Leu1110Val) c.3301T>G (p.Leu1101Val) c.3247T>G (p.Leu1083Val) c.2647T>G (p.Leu883Val) c.3595T>G (p.Leu1199Val) c.3592T>G (p.Leu1198Val) c.3511T>G (p.Leu1171Val) c.3442T>G (p.Leu1148Val) c.3310T>G (p.Leu1104Val) c.3178T>G (p.Leu1060Val) | |
20 | g.32436044T>A | CA408562836 | ASXL1 | c.3332T>A (p.Leu1111Ter) c.3149T>A (p.Leu1050Ter) n.5685T>A c.1869+1463T>A (n.1869+1463T>A) c.3317T>A (p.Leu1106Ter) c.3329T>A (p.Leu1110Ter) c.3302T>A (p.Leu1101Ter) c.3248T>A (p.Leu1083Ter) c.2648T>A (p.Leu883Ter) c.3596T>A (p.Leu1199Ter) c.3593T>A (p.Leu1198Ter) c.3512T>A (p.Leu1171Ter) c.3443T>A (p.Leu1148Ter) c.3311T>A (p.Leu1104Ter) c.3179T>A (p.Leu1060Ter) | |
20 | g.32436044T>C | CA408562838 | ASXL1 | c.3332T>C (p.Leu1111Ser) c.3149T>C (p.Leu1050Ser) n.5685T>C c.1869+1463T>C (n.1869+1463T>C) c.3317T>C (p.Leu1106Ser) c.3329T>C (p.Leu1110Ser) c.3302T>C (p.Leu1101Ser) c.3248T>C (p.Leu1083Ser) c.2648T>C (p.Leu883Ser) c.3596T>C (p.Leu1199Ser) c.3593T>C (p.Leu1198Ser) c.3512T>C (p.Leu1171Ser) c.3443T>C (p.Leu1148Ser) c.3311T>C (p.Leu1104Ser) c.3179T>C (p.Leu1060Ser) | |
20 | g.32436044T>G | CA408562837 | ASXL1 | c.3332T>G (p.Leu1111Trp) c.3149T>G (p.Leu1050Trp) n.5685T>G c.1869+1463T>G (n.1869+1463T>G) c.3317T>G (p.Leu1106Trp) c.3329T>G (p.Leu1110Trp) c.3302T>G (p.Leu1101Trp) c.3248T>G (p.Leu1083Trp) c.2648T>G (p.Leu883Trp) c.3596T>G (p.Leu1199Trp) c.3593T>G (p.Leu1198Trp) c.3512T>G (p.Leu1171Trp) c.3443T>G (p.Leu1148Trp) c.3311T>G (p.Leu1104Trp) c.3179T>G (p.Leu1060Trp) | |
20 | g.32436045G>A | CA510467070 | ASXL1 | c.3333G>A (p.Leu1111=) c.3150G>A (p.Leu1050=) n.5686G>A c.1869+1464G>A (n.1869+1464G>A) c.3318G>A (p.Leu1106=) c.3330G>A (p.Leu1110=) c.3303G>A (p.Leu1101=) c.3249G>A (p.Leu1083=) c.2649G>A (p.Leu883=) c.3597G>A (p.Leu1199=) c.3594G>A (p.Leu1198=) c.3513G>A (p.Leu1171=) c.3444G>A (p.Leu1148=) c.3312G>A (p.Leu1104=) c.3180G>A (p.Leu1060=) | |
20 | g.32436045G>C | CA408562839 | ASXL1 | c.3333G>C (p.Leu1111Phe) c.3150G>C (p.Leu1050Phe) n.5686G>C c.1869+1464G>C (n.1869+1464G>C) c.3318G>C (p.Leu1106Phe) c.3330G>C (p.Leu1110Phe) c.3303G>C (p.Leu1101Phe) c.3249G>C (p.Leu1083Phe) c.2649G>C (p.Leu883Phe) c.3597G>C (p.Leu1199Phe) c.3594G>C (p.Leu1198Phe) c.3513G>C (p.Leu1171Phe) c.3444G>C (p.Leu1148Phe) c.3312G>C (p.Leu1104Phe) c.3180G>C (p.Leu1060Phe) | |
20 | g.32436045G>T | CA408562840 | ASXL1 | c.3333G>T (p.Leu1111Phe) c.3150G>T (p.Leu1050Phe) n.5686G>T c.1869+1464G>T (n.1869+1464G>T) c.3318G>T (p.Leu1106Phe) c.3330G>T (p.Leu1110Phe) c.3303G>T (p.Leu1101Phe) c.3249G>T (p.Leu1083Phe) c.2649G>T (p.Leu883Phe) c.3597G>T (p.Leu1199Phe) c.3594G>T (p.Leu1198Phe) c.3513G>T (p.Leu1171Phe) c.3444G>T (p.Leu1148Phe) c.3312G>T (p.Leu1104Phe) c.3180G>T (p.Leu1060Phe) | |
20 | g.32436046C>A | CA9808797 | ASXL1 | c.3334C>A (p.Leu1112Met) c.3151C>A (p.Leu1051Met) n.5687C>A c.1869+1465C>A (n.1869+1465C>A) c.3319C>A (p.Leu1107Met) c.3331C>A (p.Leu1111Met) c.3304C>A (p.Leu1102Met) c.3250C>A (p.Leu1084Met) c.2650C>A (p.Leu884Met) c.3598C>A (p.Leu1200Met) c.3595C>A (p.Leu1199Met) c.3514C>A (p.Leu1172Met) c.3445C>A (p.Leu1149Met) c.3313C>A (p.Leu1105Met) c.3181C>A (p.Leu1061Met) | dbSNP ExAC gnomAD v2 |
20 | g.32436046C= | CA2360293509 | ASXL1 | c.3334C= (p.Leu1112=) c.3151C= (p.Leu1051=) n.5687C= c.1869+1465C= (n.1869+1465C=) c.3319C= (p.Leu1107=) c.3331C= (p.Leu1111=) c.3304C= (p.Leu1102=) c.3250C= (p.Leu1084=) c.2650C= (p.Leu884=) c.3598C= (p.Leu1200=) c.3595C= (p.Leu1199=) c.3514C= (p.Leu1172=) c.3445C= (p.Leu1149=) c.3313C= (p.Leu1105=) c.3181C= (p.Leu1061=) | |
20 | g.32436046C>G | CA408562841 | ASXL1 | c.3334C>G (p.Leu1112Val) c.3151C>G (p.Leu1051Val) n.5687C>G c.1869+1465C>G (n.1869+1465C>G) c.3319C>G (p.Leu1107Val) c.3331C>G (p.Leu1111Val) c.3304C>G (p.Leu1102Val) c.3250C>G (p.Leu1084Val) c.2650C>G (p.Leu884Val) c.3598C>G (p.Leu1200Val) c.3595C>G (p.Leu1199Val) c.3514C>G (p.Leu1172Val) c.3445C>G (p.Leu1149Val) c.3313C>G (p.Leu1105Val) c.3181C>G (p.Leu1061Val) | |
20 | g.32436046C>T | CA510467075 | ASXL1 | c.3334C>T (p.Leu1112=) c.3151C>T (p.Leu1051=) n.5687C>T c.1869+1465C>T (n.1869+1465C>T) c.3319C>T (p.Leu1107=) c.3331C>T (p.Leu1111=) c.3304C>T (p.Leu1102=) c.3250C>T (p.Leu1084=) c.2650C>T (p.Leu884=) c.3598C>T (p.Leu1200=) c.3595C>T (p.Leu1199=) c.3514C>T (p.Leu1172=) c.3445C>T (p.Leu1149=) c.3313C>T (p.Leu1105=) c.3181C>T (p.Leu1061=) | |
20 | g.32436047T>A | CA408562842 | ASXL1 | c.3335T>A (p.Leu1112Gln) c.3152T>A (p.Leu1051Gln) n.5688T>A c.1869+1466T>A (n.1869+1466T>A) c.3320T>A (p.Leu1107Gln) c.3332T>A (p.Leu1111Gln) c.3305T>A (p.Leu1102Gln) c.3251T>A (p.Leu1084Gln) c.2651T>A (p.Leu884Gln) c.3599T>A (p.Leu1200Gln) c.3596T>A (p.Leu1199Gln) c.3515T>A (p.Leu1172Gln) c.3446T>A (p.Leu1149Gln) c.3314T>A (p.Leu1105Gln) c.3182T>A (p.Leu1061Gln) | |
20 | g.32436047T>C | CA408562843 | ASXL1 | c.3335T>C (p.Leu1112Pro) c.3152T>C (p.Leu1051Pro) n.5688T>C c.1869+1466T>C (n.1869+1466T>C) c.3320T>C (p.Leu1107Pro) c.3332T>C (p.Leu1111Pro) c.3305T>C (p.Leu1102Pro) c.3251T>C (p.Leu1084Pro) c.2651T>C (p.Leu884Pro) c.3599T>C (p.Leu1200Pro) c.3596T>C (p.Leu1199Pro) c.3515T>C (p.Leu1172Pro) c.3446T>C (p.Leu1149Pro) c.3314T>C (p.Leu1105Pro) c.3182T>C (p.Leu1061Pro) | |
20 | g.32436047T>G | CA408562844 | ASXL1 | c.3335T>G (p.Leu1112Arg) c.3152T>G (p.Leu1051Arg) n.5688T>G c.1869+1466T>G (n.1869+1466T>G) c.3320T>G (p.Leu1107Arg) c.3332T>G (p.Leu1111Arg) c.3305T>G (p.Leu1102Arg) c.3251T>G (p.Leu1084Arg) c.2651T>G (p.Leu884Arg) c.3599T>G (p.Leu1200Arg) c.3596T>G (p.Leu1199Arg) c.3515T>G (p.Leu1172Arg) c.3446T>G (p.Leu1149Arg) c.3314T>G (p.Leu1105Arg) c.3182T>G (p.Leu1061Arg) | |
20 | g.32436048G>A | CA510467080 | ASXL1 | c.3336G>A (p.Leu1112=) c.3153G>A (p.Leu1051=) n.5689G>A c.1869+1467G>A (n.1869+1467G>A) c.3321G>A (p.Leu1107=) c.3333G>A (p.Leu1111=) c.3306G>A (p.Leu1102=) c.3252G>A (p.Leu1084=) c.2652G>A (p.Leu884=) c.3600G>A (p.Leu1200=) c.3597G>A (p.Leu1199=) c.3516G>A (p.Leu1172=) c.3447G>A (p.Leu1149=) c.3315G>A (p.Leu1105=) c.3183G>A (p.Leu1061=) | ClinVar dbSNP |
20 | g.32436048G>C | CA510467082 | ASXL1 | c.3336G>C (p.Leu1112=) c.3153G>C (p.Leu1051=) n.5689G>C c.1869+1467G>C (n.1869+1467G>C) c.3321G>C (p.Leu1107=) c.3333G>C (p.Leu1111=) c.3306G>C (p.Leu1102=) c.3252G>C (p.Leu1084=) c.2652G>C (p.Leu884=) c.3600G>C (p.Leu1200=) c.3597G>C (p.Leu1199=) c.3516G>C (p.Leu1172=) c.3447G>C (p.Leu1149=) c.3315G>C (p.Leu1105=) c.3183G>C (p.Leu1061=) | |
20 | g.32436048G= | CA2360293510 | ASXL1 | c.3336G= (p.Leu1112=) c.3153G= (p.Leu1051=) n.5689G= c.1869+1467G= (n.1869+1467G=) c.3321G= (p.Leu1107=) c.3333G= (p.Leu1111=) c.3306G= (p.Leu1102=) c.3252G= (p.Leu1084=) c.2652G= (p.Leu884=) c.3600G= (p.Leu1200=) c.3597G= (p.Leu1199=) c.3516G= (p.Leu1172=) c.3447G= (p.Leu1149=) c.3315G= (p.Leu1105=) c.3183G= (p.Leu1061=) | |
20 | g.32436048G>T | CA510467088 | ASXL1 | c.3336G>T (p.Leu1112=) c.3153G>T (p.Leu1051=) n.5689G>T c.1869+1467G>T (n.1869+1467G>T) c.3321G>T (p.Leu1107=) c.3333G>T (p.Leu1111=) c.3306G>T (p.Leu1102=) c.3252G>T (p.Leu1084=) c.2652G>T (p.Leu884=) c.3600G>T (p.Leu1200=) c.3597G>T (p.Leu1199=) c.3516G>T (p.Leu1172=) c.3447G>T (p.Leu1149=) c.3315G>T (p.Leu1105=) c.3183G>T (p.Leu1061=) | dbSNP |
20 | g.32436049C>A | CA408562845 | ASXL1 | c.3337C>A (p.Gln1113Lys) c.3154C>A (p.Gln1052Lys) n.5690C>A c.1869+1468C>A (n.1869+1468C>A) c.3322C>A (p.Gln1108Lys) c.3334C>A (p.Gln1112Lys) c.3307C>A (p.Gln1103Lys) c.3253C>A (p.Gln1085Lys) c.2653C>A (p.Gln885Lys) c.3601C>A (p.Gln1201Lys) c.3598C>A (p.Gln1200Lys) c.3517C>A (p.Gln1173Lys) c.3448C>A (p.Gln1150Lys) c.3316C>A (p.Gln1106Lys) c.3184C>A (p.Gln1062Lys) | dbSNP |
20 | g.32436049C>G | CA408562846 | ASXL1 | c.3337C>G (p.Gln1113Glu) c.3154C>G (p.Gln1052Glu) n.5690C>G c.1869+1468C>G (n.1869+1468C>G) c.3322C>G (p.Gln1108Glu) c.3334C>G (p.Gln1112Glu) c.3307C>G (p.Gln1103Glu) c.3253C>G (p.Gln1085Glu) c.2653C>G (p.Gln885Glu) c.3601C>G (p.Gln1201Glu) c.3598C>G (p.Gln1200Glu) c.3517C>G (p.Gln1173Glu) c.3448C>G (p.Gln1150Glu) c.3316C>G (p.Gln1106Glu) c.3184C>G (p.Gln1062Glu) | |
20 | g.32436049C>T | CA408562847 | ASXL1 | c.3337C>T (p.Gln1113Ter) c.3154C>T (p.Gln1052Ter) n.5690C>T c.1869+1468C>T (n.1869+1468C>T) c.3322C>T (p.Gln1108Ter) c.3334C>T (p.Gln1112Ter) c.3307C>T (p.Gln1103Ter) c.3253C>T (p.Gln1085Ter) c.2653C>T (p.Gln885Ter) c.3601C>T (p.Gln1201Ter) c.3598C>T (p.Gln1200Ter) c.3517C>T (p.Gln1173Ter) c.3448C>T (p.Gln1150Ter) c.3316C>T (p.Gln1106Ter) c.3184C>T (p.Gln1062Ter) | dbSNP |
20 | g.32436050A>C | CA408562848 | ASXL1 | c.3338A>C (p.Gln1113Pro) c.3155A>C (p.Gln1052Pro) n.5691A>C c.1869+1469A>C (n.1869+1469A>C) c.3323A>C (p.Gln1108Pro) c.3335A>C (p.Gln1112Pro) c.3308A>C (p.Gln1103Pro) c.3254A>C (p.Gln1085Pro) c.2654A>C (p.Gln885Pro) c.3602A>C (p.Gln1201Pro) c.3599A>C (p.Gln1200Pro) c.3518A>C (p.Gln1173Pro) c.3449A>C (p.Gln1150Pro) c.3317A>C (p.Gln1106Pro) c.3185A>C (p.Gln1062Pro) | |
20 | g.32436050A>G | CA408562849 | ASXL1 | c.3338A>G (p.Gln1113Arg) c.3155A>G (p.Gln1052Arg) n.5691A>G c.1869+1469A>G (n.1869+1469A>G) c.3323A>G (p.Gln1108Arg) c.3335A>G (p.Gln1112Arg) c.3308A>G (p.Gln1103Arg) c.3254A>G (p.Gln1085Arg) c.2654A>G (p.Gln885Arg) c.3602A>G (p.Gln1201Arg) c.3599A>G (p.Gln1200Arg) c.3518A>G (p.Gln1173Arg) c.3449A>G (p.Gln1150Arg) c.3317A>G (p.Gln1106Arg) c.3185A>G (p.Gln1062Arg) | gnomAD v4 |
20 | g.32436050A>T | CA408562850 | ASXL1 | c.3338A>T (p.Gln1113Leu) c.3155A>T (p.Gln1052Leu) n.5691A>T c.1869+1469A>T (n.1869+1469A>T) c.3323A>T (p.Gln1108Leu) c.3335A>T (p.Gln1112Leu) c.3308A>T (p.Gln1103Leu) c.3254A>T (p.Gln1085Leu) c.2654A>T (p.Gln885Leu) c.3602A>T (p.Gln1201Leu) c.3599A>T (p.Gln1200Leu) c.3518A>T (p.Gln1173Leu) c.3449A>T (p.Gln1150Leu) c.3317A>T (p.Gln1106Leu) c.3185A>T (p.Gln1062Leu) | |
20 | g.32436051G>A | CA510467094 | ASXL1 | c.3339G>A (p.Gln1113=) c.3156G>A (p.Gln1052=) n.5692G>A c.1869+1470G>A (n.1869+1470G>A) c.3324G>A (p.Gln1108=) c.3336G>A (p.Gln1112=) c.3309G>A (p.Gln1103=) c.3255G>A (p.Gln1085=) c.2655G>A (p.Gln885=) c.3603G>A (p.Gln1201=) c.3600G>A (p.Gln1200=) c.3519G>A (p.Gln1173=) c.3450G>A (p.Gln1150=) c.3318G>A (p.Gln1106=) c.3186G>A (p.Gln1062=) | |
20 | g.32436051G>C | CA408562851 | ASXL1 | c.3339G>C (p.Gln1113His) c.3156G>C (p.Gln1052His) n.5692G>C c.1869+1470G>C (n.1869+1470G>C) c.3324G>C (p.Gln1108His) c.3336G>C (p.Gln1112His) c.3309G>C (p.Gln1103His) c.3255G>C (p.Gln1085His) c.2655G>C (p.Gln885His) c.3603G>C (p.Gln1201His) c.3600G>C (p.Gln1200His) c.3519G>C (p.Gln1173His) c.3450G>C (p.Gln1150His) c.3318G>C (p.Gln1106His) c.3186G>C (p.Gln1062His) | |
20 | g.32436051G>T | CA408562852 | ASXL1 | c.3339G>T (p.Gln1113His) c.3156G>T (p.Gln1052His) n.5692G>T c.1869+1470G>T (n.1869+1470G>T) c.3324G>T (p.Gln1108His) c.3336G>T (p.Gln1112His) c.3309G>T (p.Gln1103His) c.3255G>T (p.Gln1085His) c.2655G>T (p.Gln885His) c.3603G>T (p.Gln1201His) c.3600G>T (p.Gln1200His) c.3519G>T (p.Gln1173His) c.3450G>T (p.Gln1150His) c.3318G>T (p.Gln1106His) c.3186G>T (p.Gln1062His) | |
20 | g.32436052G>A | CA408562855 | ASXL1 | c.3340G>A (p.Gly1114Ser) c.3157G>A (p.Gly1053Ser) n.5693G>A c.1869+1471G>A (n.1869+1471G>A) c.3325G>A (p.Gly1109Ser) c.3337G>A (p.Gly1113Ser) c.3310G>A (p.Gly1104Ser) c.3256G>A (p.Gly1086Ser) c.2656G>A (p.Gly886Ser) c.3604G>A (p.Gly1202Ser) c.3601G>A (p.Gly1201Ser) c.3520G>A (p.Gly1174Ser) c.3451G>A (p.Gly1151Ser) c.3319G>A (p.Gly1107Ser) c.3187G>A (p.Gly1063Ser) | |
20 | g.32436052G>C | CA408562854 | ASXL1 | c.3340G>C (p.Gly1114Arg) c.3157G>C (p.Gly1053Arg) n.5693G>C c.1869+1471G>C (n.1869+1471G>C) c.3325G>C (p.Gly1109Arg) c.3337G>C (p.Gly1113Arg) c.3310G>C (p.Gly1104Arg) c.3256G>C (p.Gly1086Arg) c.2656G>C (p.Gly886Arg) c.3604G>C (p.Gly1202Arg) c.3601G>C (p.Gly1201Arg) c.3520G>C (p.Gly1174Arg) c.3451G>C (p.Gly1151Arg) c.3319G>C (p.Gly1107Arg) c.3187G>C (p.Gly1063Arg) | |
20 | g.32436052G>T | CA408562853 | ASXL1 | c.3340G>T (p.Gly1114Cys) c.3157G>T (p.Gly1053Cys) n.5693G>T c.1869+1471G>T (n.1869+1471G>T) c.3325G>T (p.Gly1109Cys) c.3337G>T (p.Gly1113Cys) c.3310G>T (p.Gly1104Cys) c.3256G>T (p.Gly1086Cys) c.2656G>T (p.Gly886Cys) c.3604G>T (p.Gly1202Cys) c.3601G>T (p.Gly1201Cys) c.3520G>T (p.Gly1174Cys) c.3451G>T (p.Gly1151Cys) c.3319G>T (p.Gly1107Cys) c.3187G>T (p.Gly1063Cys) | |
20 | g.32436053G>A | CA408562856 | ASXL1 | c.3341G>A (p.Gly1114Asp) c.3158G>A (p.Gly1053Asp) n.5694G>A c.1869+1472G>A (n.1869+1472G>A) c.3326G>A (p.Gly1109Asp) c.3338G>A (p.Gly1113Asp) c.3311G>A (p.Gly1104Asp) c.3257G>A (p.Gly1086Asp) c.2657G>A (p.Gly886Asp) c.3605G>A (p.Gly1202Asp) c.3602G>A (p.Gly1201Asp) c.3521G>A (p.Gly1174Asp) c.3452G>A (p.Gly1151Asp) c.3320G>A (p.Gly1107Asp) c.3188G>A (p.Gly1063Asp) | dbSNP |
20 | g.32436053G>C | CA408562857 | ASXL1 | c.3341G>C (p.Gly1114Ala) c.3158G>C (p.Gly1053Ala) n.5694G>C c.1869+1472G>C (n.1869+1472G>C) c.3326G>C (p.Gly1109Ala) c.3338G>C (p.Gly1113Ala) c.3311G>C (p.Gly1104Ala) c.3257G>C (p.Gly1086Ala) c.2657G>C (p.Gly886Ala) c.3605G>C (p.Gly1202Ala) c.3602G>C (p.Gly1201Ala) c.3521G>C (p.Gly1174Ala) c.3452G>C (p.Gly1151Ala) c.3320G>C (p.Gly1107Ala) c.3188G>C (p.Gly1063Ala) | |
20 | g.32436053G>T | CA408562858 | ASXL1 | c.3341G>T (p.Gly1114Val) c.3158G>T (p.Gly1053Val) n.5694G>T c.1869+1472G>T (n.1869+1472G>T) c.3326G>T (p.Gly1109Val) c.3338G>T (p.Gly1113Val) c.3311G>T (p.Gly1104Val) c.3257G>T (p.Gly1086Val) c.2657G>T (p.Gly886Val) c.3605G>T (p.Gly1202Val) c.3602G>T (p.Gly1201Val) c.3521G>T (p.Gly1174Val) c.3452G>T (p.Gly1151Val) c.3320G>T (p.Gly1107Val) c.3188G>T (p.Gly1063Val) | |
20 | g.32436054T>A | CA510467101 | ASXL1 | c.3342T>A (p.Gly1114=) c.3159T>A (p.Gly1053=) n.5695T>A c.1869+1473T>A (n.1869+1473T>A) c.3327T>A (p.Gly1109=) c.3339T>A (p.Gly1113=) c.3312T>A (p.Gly1104=) c.3258T>A (p.Gly1086=) c.2658T>A (p.Gly886=) c.3606T>A (p.Gly1202=) c.3603T>A (p.Gly1201=) c.3522T>A (p.Gly1174=) c.3453T>A (p.Gly1151=) c.3321T>A (p.Gly1107=) c.3189T>A (p.Gly1063=) | |
20 | g.32436054T>C | CA510467102 | ASXL1 | c.3342T>C (p.Gly1114=) c.3159T>C (p.Gly1053=) n.5695T>C c.1869+1473T>C (n.1869+1473T>C) c.3327T>C (p.Gly1109=) c.3339T>C (p.Gly1113=) c.3312T>C (p.Gly1104=) c.3258T>C (p.Gly1086=) c.2658T>C (p.Gly886=) c.3606T>C (p.Gly1202=) c.3603T>C (p.Gly1201=) c.3522T>C (p.Gly1174=) c.3453T>C (p.Gly1151=) c.3321T>C (p.Gly1107=) c.3189T>C (p.Gly1063=) | |
20 | g.32436054T>G | CA510467104 | ASXL1 | c.3342T>G (p.Gly1114=) c.3159T>G (p.Gly1053=) n.5695T>G c.1869+1473T>G (n.1869+1473T>G) c.3327T>G (p.Gly1109=) c.3339T>G (p.Gly1113=) c.3312T>G (p.Gly1104=) c.3258T>G (p.Gly1086=) c.2658T>G (p.Gly886=) c.3606T>G (p.Gly1202=) c.3603T>G (p.Gly1201=) c.3522T>G (p.Gly1174=) c.3453T>G (p.Gly1151=) c.3321T>G (p.Gly1107=) c.3189T>G (p.Gly1063=) | dbSNP |
20 | g.32436057_32436067del | CA2652401188 | ASXL1 | c.3345_3355del (p.Ser1115ArgfsTer10) c.3162_3172del (p.Ser1054ArgfsTer10) n.5698_5708del c.1869+1476_1869+1486del (n.1869+1476_1869+1486del) c.3330_3340del (p.Ser1110ArgfsTer10) c.3342_3352del (p.Ser1114ArgfsTer10) c.3315_3325del (p.Ser1105ArgfsTer10) c.3261_3271del (p.Ser1087ArgfsTer10) c.2661_2671del (p.Ser887ArgfsTer10) c.3609_3619del (p.Ser1203ArgfsTer10) c.3606_3616del (p.Ser1202ArgfsTer10) c.3525_3535del (p.Ser1175ArgfsTer10) c.3456_3466del (p.Ser1152ArgfsTer10) c.3324_3334del (p.Ser1108ArgfsTer10) c.3192_3202del (p.Ser1064ArgfsTer10) | gnomAD v4 |
20 | g.32436055A>C | CA408562859 | ASXL1 | c.3343A>C (p.Ser1115Arg) c.3160A>C (p.Ser1054Arg) n.5696A>C c.1869+1474A>C (n.1869+1474A>C) c.3328A>C (p.Ser1110Arg) c.3340A>C (p.Ser1114Arg) c.3313A>C (p.Ser1105Arg) c.3259A>C (p.Ser1087Arg) c.2659A>C (p.Ser887Arg) c.3607A>C (p.Ser1203Arg) c.3604A>C (p.Ser1202Arg) c.3523A>C (p.Ser1175Arg) c.3454A>C (p.Ser1152Arg) c.3322A>C (p.Ser1108Arg) c.3190A>C (p.Ser1064Arg) | |
20 | g.32436055A>G | CA408562860 | ASXL1 | c.3343A>G (p.Ser1115Gly) c.3160A>G (p.Ser1054Gly) n.5696A>G c.1869+1474A>G (n.1869+1474A>G) c.3328A>G (p.Ser1110Gly) c.3340A>G (p.Ser1114Gly) c.3313A>G (p.Ser1105Gly) c.3259A>G (p.Ser1087Gly) c.2659A>G (p.Ser887Gly) c.3607A>G (p.Ser1203Gly) c.3604A>G (p.Ser1202Gly) c.3523A>G (p.Ser1175Gly) c.3454A>G (p.Ser1152Gly) c.3322A>G (p.Ser1108Gly) c.3190A>G (p.Ser1064Gly) | COSMIC |
20 | g.32436055A>T | CA408562861 | ASXL1 | c.3343A>T (p.Ser1115Cys) c.3160A>T (p.Ser1054Cys) n.5696A>T c.1869+1474A>T (n.1869+1474A>T) c.3328A>T (p.Ser1110Cys) c.3340A>T (p.Ser1114Cys) c.3313A>T (p.Ser1105Cys) c.3259A>T (p.Ser1087Cys) c.2659A>T (p.Ser887Cys) c.3607A>T (p.Ser1203Cys) c.3604A>T (p.Ser1202Cys) c.3523A>T (p.Ser1175Cys) c.3454A>T (p.Ser1152Cys) c.3322A>T (p.Ser1108Cys) c.3190A>T (p.Ser1064Cys) | |
20 | g.32436056G>A | CA408562862 | ASXL1 | c.3344G>A (p.Ser1115Asn) c.3161G>A (p.Ser1054Asn) n.5697G>A c.1869+1475G>A (n.1869+1475G>A) c.3329G>A (p.Ser1110Asn) c.3341G>A (p.Ser1114Asn) c.3314G>A (p.Ser1105Asn) c.3260G>A (p.Ser1087Asn) c.2660G>A (p.Ser887Asn) c.3608G>A (p.Ser1203Asn) c.3605G>A (p.Ser1202Asn) c.3524G>A (p.Ser1175Asn) c.3455G>A (p.Ser1152Asn) c.3323G>A (p.Ser1108Asn) c.3191G>A (p.Ser1064Asn) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436056G>C | CA408562863 | ASXL1 | c.3344G>C (p.Ser1115Thr) c.3161G>C (p.Ser1054Thr) n.5697G>C c.1869+1475G>C (n.1869+1475G>C) c.3329G>C (p.Ser1110Thr) c.3341G>C (p.Ser1114Thr) c.3314G>C (p.Ser1105Thr) c.3260G>C (p.Ser1087Thr) c.2660G>C (p.Ser887Thr) c.3608G>C (p.Ser1203Thr) c.3605G>C (p.Ser1202Thr) c.3524G>C (p.Ser1175Thr) c.3455G>C (p.Ser1152Thr) c.3323G>C (p.Ser1108Thr) c.3191G>C (p.Ser1064Thr) | |
20 | g.32436056G= | CA2360293511 | ASXL1 | c.3344G= (p.Ser1115=) c.3161G= (p.Ser1054=) n.5697G= c.1869+1475G= (n.1869+1475G=) c.3329G= (p.Ser1110=) c.3341G= (p.Ser1114=) c.3314G= (p.Ser1105=) c.3260G= (p.Ser1087=) c.2660G= (p.Ser887=) c.3608G= (p.Ser1203=) c.3605G= (p.Ser1202=) c.3524G= (p.Ser1175=) c.3455G= (p.Ser1152=) c.3323G= (p.Ser1108=) c.3191G= (p.Ser1064=) | |
20 | g.32436056G>T | CA408562864 | ASXL1 | c.3344G>T (p.Ser1115Ile) c.3161G>T (p.Ser1054Ile) n.5697G>T c.1869+1475G>T (n.1869+1475G>T) c.3329G>T (p.Ser1110Ile) c.3341G>T (p.Ser1114Ile) c.3314G>T (p.Ser1105Ile) c.3260G>T (p.Ser1087Ile) c.2660G>T (p.Ser887Ile) c.3608G>T (p.Ser1203Ile) c.3605G>T (p.Ser1202Ile) c.3524G>T (p.Ser1175Ile) c.3455G>T (p.Ser1152Ile) c.3323G>T (p.Ser1108Ile) c.3191G>T (p.Ser1064Ile) | |
20 | g.32436057C>A | CA408562865 | ASXL1 | c.3345C>A (p.Ser1115Arg) c.3162C>A (p.Ser1054Arg) n.5698C>A c.1869+1476C>A (n.1869+1476C>A) c.3330C>A (p.Ser1110Arg) c.3342C>A (p.Ser1114Arg) c.3315C>A (p.Ser1105Arg) c.3261C>A (p.Ser1087Arg) c.2661C>A (p.Ser887Arg) c.3609C>A (p.Ser1203Arg) c.3606C>A (p.Ser1202Arg) c.3525C>A (p.Ser1175Arg) c.3456C>A (p.Ser1152Arg) c.3324C>A (p.Ser1108Arg) c.3192C>A (p.Ser1064Arg) | |
20 | g.32436057C= | CA2360293512 | ASXL1 | c.3345C= (p.Ser1115=) c.3162C= (p.Ser1054=) n.5698C= c.1869+1476C= (n.1869+1476C=) c.3330C= (p.Ser1110=) c.3342C= (p.Ser1114=) c.3315C= (p.Ser1105=) c.3261C= (p.Ser1087=) c.2661C= (p.Ser887=) c.3609C= (p.Ser1203=) c.3606C= (p.Ser1202=) c.3525C= (p.Ser1175=) c.3456C= (p.Ser1152=) c.3324C= (p.Ser1108=) c.3192C= (p.Ser1064=) | |
20 | g.32436057C>G | CA408562866 | ASXL1 | c.3345C>G (p.Ser1115Arg) c.3162C>G (p.Ser1054Arg) n.5698C>G c.1869+1476C>G (n.1869+1476C>G) c.3330C>G (p.Ser1110Arg) c.3342C>G (p.Ser1114Arg) c.3315C>G (p.Ser1105Arg) c.3261C>G (p.Ser1087Arg) c.2661C>G (p.Ser887Arg) c.3609C>G (p.Ser1203Arg) c.3606C>G (p.Ser1202Arg) c.3525C>G (p.Ser1175Arg) c.3456C>G (p.Ser1152Arg) c.3324C>G (p.Ser1108Arg) c.3192C>G (p.Ser1064Arg) | |
20 | g.32436057C>T | CA510467110 | ASXL1 | c.3345C>T (p.Ser1115=) c.3162C>T (p.Ser1054=) n.5698C>T c.1869+1476C>T (n.1869+1476C>T) c.3330C>T (p.Ser1110=) c.3342C>T (p.Ser1114=) c.3315C>T (p.Ser1105=) c.3261C>T (p.Ser1087=) c.2661C>T (p.Ser887=) c.3609C>T (p.Ser1203=) c.3606C>T (p.Ser1202=) c.3525C>T (p.Ser1175=) c.3456C>T (p.Ser1152=) c.3324C>T (p.Ser1108=) c.3192C>T (p.Ser1064=) | dbSNP |
20 | g.32436058T>A | CA408562867 | ASXL1 | c.3346T>A (p.Leu1116Met) c.3163T>A (p.Leu1055Met) n.5699T>A c.1869+1477T>A (n.1869+1477T>A) c.3331T>A (p.Leu1111Met) c.3343T>A (p.Leu1115Met) c.3316T>A (p.Leu1106Met) c.3262T>A (p.Leu1088Met) c.2662T>A (p.Leu888Met) c.3610T>A (p.Leu1204Met) c.3607T>A (p.Leu1203Met) c.3526T>A (p.Leu1176Met) c.3457T>A (p.Leu1153Met) c.3325T>A (p.Leu1109Met) c.3193T>A (p.Leu1065Met) | dbSNP |
20 | g.32436058T>C | CA510467112 | ASXL1 | c.3346T>C (p.Leu1116=) c.3163T>C (p.Leu1055=) n.5699T>C c.1869+1477T>C (n.1869+1477T>C) c.3331T>C (p.Leu1111=) c.3343T>C (p.Leu1115=) c.3316T>C (p.Leu1106=) c.3262T>C (p.Leu1088=) c.2662T>C (p.Leu888=) c.3610T>C (p.Leu1204=) c.3607T>C (p.Leu1203=) c.3526T>C (p.Leu1176=) c.3457T>C (p.Leu1153=) c.3325T>C (p.Leu1109=) c.3193T>C (p.Leu1065=) | gnomAD v4 |
20 | g.32436058T>G | CA408562868 | ASXL1 | c.3346T>G (p.Leu1116Val) c.3163T>G (p.Leu1055Val) n.5699T>G c.1869+1477T>G (n.1869+1477T>G) c.3331T>G (p.Leu1111Val) c.3343T>G (p.Leu1115Val) c.3316T>G (p.Leu1106Val) c.3262T>G (p.Leu1088Val) c.2662T>G (p.Leu888Val) c.3610T>G (p.Leu1204Val) c.3607T>G (p.Leu1203Val) c.3526T>G (p.Leu1176Val) c.3457T>G (p.Leu1153Val) c.3325T>G (p.Leu1109Val) c.3193T>G (p.Leu1065Val) | |
20 | g.32436059T>A | CA408562870 | ASXL1 | c.3347T>A (p.Leu1116Ter) c.3164T>A (p.Leu1055Ter) n.5700T>A c.1869+1478T>A (n.1869+1478T>A) c.3332T>A (p.Leu1111Ter) c.3344T>A (p.Leu1115Ter) c.3317T>A (p.Leu1106Ter) c.3263T>A (p.Leu1088Ter) c.2663T>A (p.Leu888Ter) c.3611T>A (p.Leu1204Ter) c.3608T>A (p.Leu1203Ter) c.3527T>A (p.Leu1176Ter) c.3458T>A (p.Leu1153Ter) c.3326T>A (p.Leu1109Ter) c.3194T>A (p.Leu1065Ter) | |
20 | g.32436059T>C | CA408562871 | ASXL1 | c.3347T>C (p.Leu1116Ser) c.3164T>C (p.Leu1055Ser) n.5700T>C c.1869+1478T>C (n.1869+1478T>C) c.3332T>C (p.Leu1111Ser) c.3344T>C (p.Leu1115Ser) c.3317T>C (p.Leu1106Ser) c.3263T>C (p.Leu1088Ser) c.2663T>C (p.Leu888Ser) c.3611T>C (p.Leu1204Ser) c.3608T>C (p.Leu1203Ser) c.3527T>C (p.Leu1176Ser) c.3458T>C (p.Leu1153Ser) c.3326T>C (p.Leu1109Ser) c.3194T>C (p.Leu1065Ser) | |
20 | g.32436059T>G | CA408562869 | ASXL1 | c.3347T>G (p.Leu1116Trp) c.3164T>G (p.Leu1055Trp) n.5700T>G c.1869+1478T>G (n.1869+1478T>G) c.3332T>G (p.Leu1111Trp) c.3344T>G (p.Leu1115Trp) c.3317T>G (p.Leu1106Trp) c.3263T>G (p.Leu1088Trp) c.2663T>G (p.Leu888Trp) c.3611T>G (p.Leu1204Trp) c.3608T>G (p.Leu1203Trp) c.3527T>G (p.Leu1176Trp) c.3458T>G (p.Leu1153Trp) c.3326T>G (p.Leu1109Trp) c.3194T>G (p.Leu1065Trp) | |
20 | g.32436060G>A | CA9808798 | ASXL1 | c.3348G>A (p.Leu1116=) c.3165G>A (p.Leu1055=) n.5701G>A c.1869+1479G>A (n.1869+1479G>A) c.3333G>A (p.Leu1111=) c.3345G>A (p.Leu1115=) c.3318G>A (p.Leu1106=) c.3264G>A (p.Leu1088=) c.2664G>A (p.Leu888=) c.3612G>A (p.Leu1204=) c.3609G>A (p.Leu1203=) c.3528G>A (p.Leu1176=) c.3459G>A (p.Leu1153=) c.3327G>A (p.Leu1109=) c.3195G>A (p.Leu1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436060G>C | CA408562872 | ASXL1 | c.3348G>C (p.Leu1116Phe) c.3165G>C (p.Leu1055Phe) n.5701G>C c.1869+1479G>C (n.1869+1479G>C) c.3333G>C (p.Leu1111Phe) c.3345G>C (p.Leu1115Phe) c.3318G>C (p.Leu1106Phe) c.3264G>C (p.Leu1088Phe) c.2664G>C (p.Leu888Phe) c.3612G>C (p.Leu1204Phe) c.3609G>C (p.Leu1203Phe) c.3528G>C (p.Leu1176Phe) c.3459G>C (p.Leu1153Phe) c.3327G>C (p.Leu1109Phe) c.3195G>C (p.Leu1065Phe) | |
20 | g.32436060G= | CA2360293513 | ASXL1 | c.3348G= (p.Leu1116=) c.3165G= (p.Leu1055=) n.5701G= c.1869+1479G= (n.1869+1479G=) c.3333G= (p.Leu1111=) c.3345G= (p.Leu1115=) c.3318G= (p.Leu1106=) c.3264G= (p.Leu1088=) c.2664G= (p.Leu888=) c.3612G= (p.Leu1204=) c.3609G= (p.Leu1203=) c.3528G= (p.Leu1176=) c.3459G= (p.Leu1153=) c.3327G= (p.Leu1109=) c.3195G= (p.Leu1065=) | |
20 | g.32436060G>T | CA408562873 | ASXL1 | c.3348G>T (p.Leu1116Phe) c.3165G>T (p.Leu1055Phe) n.5701G>T c.1869+1479G>T (n.1869+1479G>T) c.3333G>T (p.Leu1111Phe) c.3345G>T (p.Leu1115Phe) c.3318G>T (p.Leu1106Phe) c.3264G>T (p.Leu1088Phe) c.2664G>T (p.Leu888Phe) c.3612G>T (p.Leu1204Phe) c.3609G>T (p.Leu1203Phe) c.3528G>T (p.Leu1176Phe) c.3459G>T (p.Leu1153Phe) c.3327G>T (p.Leu1109Phe) c.3195G>T (p.Leu1065Phe) | gnomAD v4 |
20 | g.32436061C>A | CA408562874 | ASXL1 | c.3349C>A (p.Pro1117Thr) c.3166C>A (p.Pro1056Thr) n.5702C>A c.1869+1480C>A (n.1869+1480C>A) c.3334C>A (p.Pro1112Thr) c.3346C>A (p.Pro1116Thr) c.3319C>A (p.Pro1107Thr) c.3265C>A (p.Pro1089Thr) c.2665C>A (p.Pro889Thr) c.3613C>A (p.Pro1205Thr) c.3610C>A (p.Pro1204Thr) c.3529C>A (p.Pro1177Thr) c.3460C>A (p.Pro1154Thr) c.3328C>A (p.Pro1110Thr) c.3196C>A (p.Pro1066Thr) | dbSNP gnomAD v4 |
20 | g.32436061C= | CA2360293514 | ASXL1 | c.3349C= (p.Pro1117=) c.3166C= (p.Pro1056=) n.5702C= c.1869+1480C= (n.1869+1480C=) c.3334C= (p.Pro1112=) c.3346C= (p.Pro1116=) c.3319C= (p.Pro1107=) c.3265C= (p.Pro1089=) c.2665C= (p.Pro889=) c.3613C= (p.Pro1205=) c.3610C= (p.Pro1204=) c.3529C= (p.Pro1177=) c.3460C= (p.Pro1154=) c.3328C= (p.Pro1110=) c.3196C= (p.Pro1066=) | |
20 | g.32436061C>G | CA408562875 | ASXL1 | c.3349C>G (p.Pro1117Ala) c.3166C>G (p.Pro1056Ala) n.5702C>G c.1869+1480C>G (n.1869+1480C>G) c.3334C>G (p.Pro1112Ala) c.3346C>G (p.Pro1116Ala) c.3319C>G (p.Pro1107Ala) c.3265C>G (p.Pro1089Ala) c.2665C>G (p.Pro889Ala) c.3613C>G (p.Pro1205Ala) c.3610C>G (p.Pro1204Ala) c.3529C>G (p.Pro1177Ala) c.3460C>G (p.Pro1154Ala) c.3328C>G (p.Pro1110Ala) c.3196C>G (p.Pro1066Ala) | |
20 | g.32436061C>T | CA408562876 | ASXL1 | c.3349C>T (p.Pro1117Ser) c.3166C>T (p.Pro1056Ser) n.5702C>T c.1869+1480C>T (n.1869+1480C>T) c.3334C>T (p.Pro1112Ser) c.3346C>T (p.Pro1116Ser) c.3319C>T (p.Pro1107Ser) c.3265C>T (p.Pro1089Ser) c.2665C>T (p.Pro889Ser) c.3613C>T (p.Pro1205Ser) c.3610C>T (p.Pro1204Ser) c.3529C>T (p.Pro1177Ser) c.3460C>T (p.Pro1154Ser) c.3328C>T (p.Pro1110Ser) c.3196C>T (p.Pro1066Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436062C>A | CA408562877 | ASXL1 | c.3350C>A (p.Pro1117His) c.3167C>A (p.Pro1056His) n.5703C>A c.1869+1481C>A (n.1869+1481C>A) c.3335C>A (p.Pro1112His) c.3347C>A (p.Pro1116His) c.3320C>A (p.Pro1107His) c.3266C>A (p.Pro1089His) c.2666C>A (p.Pro889His) c.3614C>A (p.Pro1205His) c.3611C>A (p.Pro1204His) c.3530C>A (p.Pro1177His) c.3461C>A (p.Pro1154His) c.3329C>A (p.Pro1110His) c.3197C>A (p.Pro1066His) | dbSNP |
20 | g.32436062C>G | CA408562878 | ASXL1 | c.3350C>G (p.Pro1117Arg) c.3167C>G (p.Pro1056Arg) n.5703C>G c.1869+1481C>G (n.1869+1481C>G) c.3335C>G (p.Pro1112Arg) c.3347C>G (p.Pro1116Arg) c.3320C>G (p.Pro1107Arg) c.3266C>G (p.Pro1089Arg) c.2666C>G (p.Pro889Arg) c.3614C>G (p.Pro1205Arg) c.3611C>G (p.Pro1204Arg) c.3530C>G (p.Pro1177Arg) c.3461C>G (p.Pro1154Arg) c.3329C>G (p.Pro1110Arg) c.3197C>G (p.Pro1066Arg) | |
20 | g.32436062C>T | CA408562879 | ASXL1 | c.3350C>T (p.Pro1117Leu) c.3167C>T (p.Pro1056Leu) n.5703C>T c.1869+1481C>T (n.1869+1481C>T) c.3335C>T (p.Pro1112Leu) c.3347C>T (p.Pro1116Leu) c.3320C>T (p.Pro1107Leu) c.3266C>T (p.Pro1089Leu) c.2666C>T (p.Pro889Leu) c.3614C>T (p.Pro1205Leu) c.3611C>T (p.Pro1204Leu) c.3530C>T (p.Pro1177Leu) c.3461C>T (p.Pro1154Leu) c.3329C>T (p.Pro1110Leu) c.3197C>T (p.Pro1066Leu) | COSMIC |
20 | g.32436063C>A | CA9808799 | ASXL1 | c.3351C>A (p.Pro1117=) c.3168C>A (p.Pro1056=) n.5704C>A c.1869+1482C>A (n.1869+1482C>A) c.3336C>A (p.Pro1112=) c.3348C>A (p.Pro1116=) c.3321C>A (p.Pro1107=) c.3267C>A (p.Pro1089=) c.2667C>A (p.Pro889=) c.3615C>A (p.Pro1205=) c.3612C>A (p.Pro1204=) c.3531C>A (p.Pro1177=) c.3462C>A (p.Pro1154=) c.3330C>A (p.Pro1110=) c.3198C>A (p.Pro1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436063C= | CA2360293515 | ASXL1 | c.3351C= (p.Pro1117=) c.3168C= (p.Pro1056=) n.5704C= c.1869+1482C= (n.1869+1482C=) c.3336C= (p.Pro1112=) c.3348C= (p.Pro1116=) c.3321C= (p.Pro1107=) c.3267C= (p.Pro1089=) c.2667C= (p.Pro889=) c.3615C= (p.Pro1205=) c.3612C= (p.Pro1204=) c.3531C= (p.Pro1177=) c.3462C= (p.Pro1154=) c.3330C= (p.Pro1110=) c.3198C= (p.Pro1066=) | |
20 | g.32436063C>G | CA510467124 | ASXL1 | c.3351C>G (p.Pro1117=) c.3168C>G (p.Pro1056=) n.5704C>G c.1869+1482C>G (n.1869+1482C>G) c.3336C>G (p.Pro1112=) c.3348C>G (p.Pro1116=) c.3321C>G (p.Pro1107=) c.3267C>G (p.Pro1089=) c.2667C>G (p.Pro889=) c.3615C>G (p.Pro1205=) c.3612C>G (p.Pro1204=) c.3531C>G (p.Pro1177=) c.3462C>G (p.Pro1154=) c.3330C>G (p.Pro1110=) c.3198C>G (p.Pro1066=) | dbSNP |
20 | g.32436063C>T | CA510467121 | ASXL1 | c.3351C>T (p.Pro1117=) c.3168C>T (p.Pro1056=) n.5704C>T c.1869+1482C>T (n.1869+1482C>T) c.3336C>T (p.Pro1112=) c.3348C>T (p.Pro1116=) c.3321C>T (p.Pro1107=) c.3267C>T (p.Pro1089=) c.2667C>T (p.Pro889=) c.3615C>T (p.Pro1205=) c.3612C>T (p.Pro1204=) c.3531C>T (p.Pro1177=) c.3462C>T (p.Pro1154=) c.3330C>T (p.Pro1110=) c.3198C>T (p.Pro1066=) | dbSNP gnomAD v4 COSMIC |
20 | g.32436064C>A | CA408562880 | ASXL1 | c.3352C>A (p.Leu1118Ile) c.3169C>A (p.Leu1057Ile) n.5705C>A c.1869+1483C>A (n.1869+1483C>A) c.3337C>A (p.Leu1113Ile) c.3349C>A (p.Leu1117Ile) c.3322C>A (p.Leu1108Ile) c.3268C>A (p.Leu1090Ile) c.2668C>A (p.Leu890Ile) c.3616C>A (p.Leu1206Ile) c.3613C>A (p.Leu1205Ile) c.3532C>A (p.Leu1178Ile) c.3463C>A (p.Leu1155Ile) c.3331C>A (p.Leu1111Ile) c.3199C>A (p.Leu1067Ile) | |
20 | g.32436064C= | CA2360293516 | ASXL1 | c.3352C= (p.Leu1118=) c.3169C= (p.Leu1057=) n.5705C= c.1869+1483C= (n.1869+1483C=) c.3337C= (p.Leu1113=) c.3349C= (p.Leu1117=) c.3322C= (p.Leu1108=) c.3268C= (p.Leu1090=) c.2668C= (p.Leu890=) c.3616C= (p.Leu1206=) c.3613C= (p.Leu1205=) c.3532C= (p.Leu1178=) c.3463C= (p.Leu1155=) c.3331C= (p.Leu1111=) c.3199C= (p.Leu1067=) | |
20 | g.32436064C>G | CA408562881 | ASXL1 | c.3352C>G (p.Leu1118Val) c.3169C>G (p.Leu1057Val) n.5705C>G c.1869+1483C>G (n.1869+1483C>G) c.3337C>G (p.Leu1113Val) c.3349C>G (p.Leu1117Val) c.3322C>G (p.Leu1108Val) c.3268C>G (p.Leu1090Val) c.2668C>G (p.Leu890Val) c.3616C>G (p.Leu1206Val) c.3613C>G (p.Leu1205Val) c.3532C>G (p.Leu1178Val) c.3463C>G (p.Leu1155Val) c.3331C>G (p.Leu1111Val) c.3199C>G (p.Leu1067Val) | |
20 | g.32436064C>T | CA510467125 | ASXL1 | c.3352C>T (p.Leu1118=) c.3169C>T (p.Leu1057=) n.5705C>T c.1869+1483C>T (n.1869+1483C>T) c.3337C>T (p.Leu1113=) c.3349C>T (p.Leu1117=) c.3322C>T (p.Leu1108=) c.3268C>T (p.Leu1090=) c.2668C>T (p.Leu890=) c.3616C>T (p.Leu1206=) c.3613C>T (p.Leu1205=) c.3532C>T (p.Leu1178=) c.3463C>T (p.Leu1155=) c.3331C>T (p.Leu1111=) c.3199C>T (p.Leu1067=) | ClinVar dbSNP gnomAD v4 |
20 | g.32436065T>A | CA408562884 | ASXL1 | c.3353T>A (p.Leu1118Gln) c.3170T>A (p.Leu1057Gln) n.5706T>A c.1869+1484T>A (n.1869+1484T>A) c.3338T>A (p.Leu1113Gln) c.3350T>A (p.Leu1117Gln) c.3323T>A (p.Leu1108Gln) c.3269T>A (p.Leu1090Gln) c.2669T>A (p.Leu890Gln) c.3617T>A (p.Leu1206Gln) c.3614T>A (p.Leu1205Gln) c.3533T>A (p.Leu1178Gln) c.3464T>A (p.Leu1155Gln) c.3332T>A (p.Leu1111Gln) c.3200T>A (p.Leu1067Gln) | |
20 | g.32436065T>C | CA408562882 | ASXL1 | c.3353T>C (p.Leu1118Pro) c.3170T>C (p.Leu1057Pro) n.5706T>C c.1869+1484T>C (n.1869+1484T>C) c.3338T>C (p.Leu1113Pro) c.3350T>C (p.Leu1117Pro) c.3323T>C (p.Leu1108Pro) c.3269T>C (p.Leu1090Pro) c.2669T>C (p.Leu890Pro) c.3617T>C (p.Leu1206Pro) c.3614T>C (p.Leu1205Pro) c.3533T>C (p.Leu1178Pro) c.3464T>C (p.Leu1155Pro) c.3332T>C (p.Leu1111Pro) c.3200T>C (p.Leu1067Pro) | |
20 | g.32436065T>G | CA408562883 | ASXL1 | c.3353T>G (p.Leu1118Arg) c.3170T>G (p.Leu1057Arg) n.5706T>G c.1869+1484T>G (n.1869+1484T>G) c.3338T>G (p.Leu1113Arg) c.3350T>G (p.Leu1117Arg) c.3323T>G (p.Leu1108Arg) c.3269T>G (p.Leu1090Arg) c.2669T>G (p.Leu890Arg) c.3617T>G (p.Leu1206Arg) c.3614T>G (p.Leu1205Arg) c.3533T>G (p.Leu1178Arg) c.3464T>G (p.Leu1155Arg) c.3332T>G (p.Leu1111Arg) c.3200T>G (p.Leu1067Arg) | gnomAD v4 |
20 | g.32436066A>C | CA510467128 | ASXL1 | c.3354A>C (p.Leu1118=) c.3171A>C (p.Leu1057=) n.5707A>C c.1869+1485A>C (n.1869+1485A>C) c.3339A>C (p.Leu1113=) c.3351A>C (p.Leu1117=) c.3324A>C (p.Leu1108=) c.3270A>C (p.Leu1090=) c.2670A>C (p.Leu890=) c.3618A>C (p.Leu1206=) c.3615A>C (p.Leu1205=) c.3534A>C (p.Leu1178=) c.3465A>C (p.Leu1155=) c.3333A>C (p.Leu1111=) c.3201A>C (p.Leu1067=) | |
20 | g.32436066A>G | CA510467129 | ASXL1 | c.3354A>G (p.Leu1118=) c.3171A>G (p.Leu1057=) n.5707A>G c.1869+1485A>G (n.1869+1485A>G) c.3339A>G (p.Leu1113=) c.3351A>G (p.Leu1117=) c.3324A>G (p.Leu1108=) c.3270A>G (p.Leu1090=) c.2670A>G (p.Leu890=) c.3618A>G (p.Leu1206=) c.3615A>G (p.Leu1205=) c.3534A>G (p.Leu1178=) c.3465A>G (p.Leu1155=) c.3333A>G (p.Leu1111=) c.3201A>G (p.Leu1067=) | |
20 | g.32436066A>T | CA510467130 | ASXL1 | c.3354A>T (p.Leu1118=) c.3171A>T (p.Leu1057=) n.5707A>T c.1869+1485A>T (n.1869+1485A>T) c.3339A>T (p.Leu1113=) c.3351A>T (p.Leu1117=) c.3324A>T (p.Leu1108=) c.3270A>T (p.Leu1090=) c.2670A>T (p.Leu890=) c.3618A>T (p.Leu1206=) c.3615A>T (p.Leu1205=) c.3534A>T (p.Leu1178=) c.3465A>T (p.Leu1155=) c.3333A>T (p.Leu1111=) c.3201A>T (p.Leu1067=) | |
20 | g.32436067G>A | CA408562885 | ASXL1 | c.3355G>A (p.Glu1119Lys) c.3172G>A (p.Glu1058Lys) n.5708G>A c.1869+1486G>A (n.1869+1486G>A) c.3340G>A (p.Glu1114Lys) c.3352G>A (p.Glu1118Lys) c.3325G>A (p.Glu1109Lys) c.3271G>A (p.Glu1091Lys) c.2671G>A (p.Glu891Lys) c.3619G>A (p.Glu1207Lys) c.3616G>A (p.Glu1206Lys) c.3535G>A (p.Glu1179Lys) c.3466G>A (p.Glu1156Lys) c.3334G>A (p.Glu1112Lys) c.3202G>A (p.Glu1068Lys) | |
20 | g.32436067G>C | CA408562886 | ASXL1 | c.3355G>C (p.Glu1119Gln) c.3172G>C (p.Glu1058Gln) n.5708G>C c.1869+1486G>C (n.1869+1486G>C) c.3340G>C (p.Glu1114Gln) c.3352G>C (p.Glu1118Gln) c.3325G>C (p.Glu1109Gln) c.3271G>C (p.Glu1091Gln) c.2671G>C (p.Glu891Gln) c.3619G>C (p.Glu1207Gln) c.3616G>C (p.Glu1206Gln) c.3535G>C (p.Glu1179Gln) c.3466G>C (p.Glu1156Gln) c.3334G>C (p.Glu1112Gln) c.3202G>C (p.Glu1068Gln) | |
20 | g.32436067G>T | CA408562887 | ASXL1 | c.3355G>T (p.Glu1119Ter) c.3172G>T (p.Glu1058Ter) n.5708G>T c.1869+1486G>T (n.1869+1486G>T) c.3340G>T (p.Glu1114Ter) c.3352G>T (p.Glu1118Ter) c.3325G>T (p.Glu1109Ter) c.3271G>T (p.Glu1091Ter) c.2671G>T (p.Glu891Ter) c.3619G>T (p.Glu1207Ter) c.3616G>T (p.Glu1206Ter) c.3535G>T (p.Glu1179Ter) c.3466G>T (p.Glu1156Ter) c.3334G>T (p.Glu1112Ter) c.3202G>T (p.Glu1068Ter) | |
20 | g.32436068A>C | CA408562888 | ASXL1 | c.3356A>C (p.Glu1119Ala) c.3173A>C (p.Glu1058Ala) n.5709A>C c.1869+1487A>C (n.1869+1487A>C) c.3341A>C (p.Glu1114Ala) c.3353A>C (p.Glu1118Ala) c.3326A>C (p.Glu1109Ala) c.3272A>C (p.Glu1091Ala) c.2672A>C (p.Glu891Ala) c.3620A>C (p.Glu1207Ala) c.3617A>C (p.Glu1206Ala) c.3536A>C (p.Glu1179Ala) c.3467A>C (p.Glu1156Ala) c.3335A>C (p.Glu1112Ala) c.3203A>C (p.Glu1068Ala) | |
20 | g.32436068A>G | CA408562889 | ASXL1 | c.3356A>G (p.Glu1119Gly) c.3173A>G (p.Glu1058Gly) n.5709A>G c.1869+1487A>G (n.1869+1487A>G) c.3341A>G (p.Glu1114Gly) c.3353A>G (p.Glu1118Gly) c.3326A>G (p.Glu1109Gly) c.3272A>G (p.Glu1091Gly) c.2672A>G (p.Glu891Gly) c.3620A>G (p.Glu1207Gly) c.3617A>G (p.Glu1206Gly) c.3536A>G (p.Glu1179Gly) c.3467A>G (p.Glu1156Gly) c.3335A>G (p.Glu1112Gly) c.3203A>G (p.Glu1068Gly) | |
20 | g.32436068A>T | CA408562890 | ASXL1 | c.3356A>T (p.Glu1119Val) c.3173A>T (p.Glu1058Val) n.5709A>T c.1869+1487A>T (n.1869+1487A>T) c.3341A>T (p.Glu1114Val) c.3353A>T (p.Glu1118Val) c.3326A>T (p.Glu1109Val) c.3272A>T (p.Glu1091Val) c.2672A>T (p.Glu891Val) c.3620A>T (p.Glu1207Val) c.3617A>T (p.Glu1206Val) c.3536A>T (p.Glu1179Val) c.3467A>T (p.Glu1156Val) c.3335A>T (p.Glu1112Val) c.3203A>T (p.Glu1068Val) | |
20 | g.32436069G>A | CA510467135 | ASXL1 | c.3357G>A (p.Glu1119=) c.3174G>A (p.Glu1058=) n.5710G>A c.1869+1488G>A (n.1869+1488G>A) c.3342G>A (p.Glu1114=) c.3354G>A (p.Glu1118=) c.3327G>A (p.Glu1109=) c.3273G>A (p.Glu1091=) c.2673G>A (p.Glu891=) c.3621G>A (p.Glu1207=) c.3618G>A (p.Glu1206=) c.3537G>A (p.Glu1179=) c.3468G>A (p.Glu1156=) c.3336G>A (p.Glu1112=) c.3204G>A (p.Glu1068=) | |
20 | g.32436069G>C | CA408562891 | ASXL1 | c.3357G>C (p.Glu1119Asp) c.3174G>C (p.Glu1058Asp) n.5710G>C c.1869+1488G>C (n.1869+1488G>C) c.3342G>C (p.Glu1114Asp) c.3354G>C (p.Glu1118Asp) c.3327G>C (p.Glu1109Asp) c.3273G>C (p.Glu1091Asp) c.2673G>C (p.Glu891Asp) c.3621G>C (p.Glu1207Asp) c.3618G>C (p.Glu1206Asp) c.3537G>C (p.Glu1179Asp) c.3468G>C (p.Glu1156Asp) c.3336G>C (p.Glu1112Asp) c.3204G>C (p.Glu1068Asp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436069G= | CA2360293517 | ASXL1 | c.3357G= (p.Glu1119=) c.3174G= (p.Glu1058=) n.5710G= c.1869+1488G= (n.1869+1488G=) c.3342G= (p.Glu1114=) c.3354G= (p.Glu1118=) c.3327G= (p.Glu1109=) c.3273G= (p.Glu1091=) c.2673G= (p.Glu891=) c.3621G= (p.Glu1207=) c.3618G= (p.Glu1206=) c.3537G= (p.Glu1179=) c.3468G= (p.Glu1156=) c.3336G= (p.Glu1112=) c.3204G= (p.Glu1068=) | |
20 | g.32436069G>T | CA408562892 | ASXL1 | c.3357G>T (p.Glu1119Asp) c.3174G>T (p.Glu1058Asp) n.5710G>T c.1869+1488G>T (n.1869+1488G>T) c.3342G>T (p.Glu1114Asp) c.3354G>T (p.Glu1118Asp) c.3327G>T (p.Glu1109Asp) c.3273G>T (p.Glu1091Asp) c.2673G>T (p.Glu891Asp) c.3621G>T (p.Glu1207Asp) c.3618G>T (p.Glu1206Asp) c.3537G>T (p.Glu1179Asp) c.3468G>T (p.Glu1156Asp) c.3336G>T (p.Glu1112Asp) c.3204G>T (p.Glu1068Asp) |