Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154584910C>ACA342634657ADARc.3471G>T (n.3471G>T)
c.3607G>T (p.Glu1203Ter)
c.3460G>T (p.Glu1154Ter)
c.3229G>T (p.Glu1077Ter)
c.2692G>T (p.Glu898Ter)
c.3577G>T (p.Glu1193Ter)
n.2370G>T
c.3499G>T (p.Glu1167Ter)
n.3562G>T
c.*1052G>T (n.*1052G>T)
n.4313G>T
c.*743G>T (n.*743G>T)
c.*1809G>T (n.*1809G>T)
n.4438G>T
c.2635G>T (p.Glu879Ter)
c.3394G>T (p.Glu1132Ter)
c.*3099G>T (n.*3099G>T)
n.3245G>T
c.*3177G>T (n.*3177G>T)
n.336G>T
c.3484G>T (p.Glu1162Ter)
c.3442G>T (p.Glu1148Ter)
c.3706G>T (p.Glu1236Ter)
c.3628G>T (p.Glu1210Ter)
c.3595G>T (p.Glu1199Ter)
c.3604G>T (p.Glu1202Ter)
c.2614G>T (p.Glu872Ter)
1g.154584910C=CA2480931197ADARc.3471G= (n.3471G=)
c.3607G= (p.Glu1203=)
c.3460G= (p.Glu1154=)
c.3229G= (p.Glu1077=)
c.2692G= (p.Glu898=)
c.3577G= (p.Glu1193=)
n.2370G=
c.3499G= (p.Glu1167=)
n.3562G=
c.*1052G= (n.*1052G=)
n.4313G=
c.*743G= (n.*743G=)
c.*1809G= (n.*1809G=)
n.4438G=
c.2635G= (p.Glu879=)
c.3394G= (p.Glu1132=)
c.*3099G= (n.*3099G=)
n.3245G=
c.*3177G= (n.*3177G=)
n.336G=
c.3484G= (p.Glu1162=)
c.3442G= (p.Glu1148=)
c.3706G= (p.Glu1236=)
c.3628G= (p.Glu1210=)
c.3595G= (p.Glu1199=)
c.3604G= (p.Glu1202=)
c.2614G= (p.Glu872=)
1g.154584910C>GCA342634656ADARc.3471G>C (n.3471G>C)
c.3607G>C (p.Glu1203Gln)
c.3460G>C (p.Glu1154Gln)
c.3229G>C (p.Glu1077Gln)
c.2692G>C (p.Glu898Gln)
c.3577G>C (p.Glu1193Gln)
n.2370G>C
c.3499G>C (p.Glu1167Gln)
n.3562G>C
c.*1052G>C (n.*1052G>C)
n.4313G>C
c.*743G>C (n.*743G>C)
c.*1809G>C (n.*1809G>C)
n.4438G>C
c.2635G>C (p.Glu879Gln)
c.3394G>C (p.Glu1132Gln)
c.*3099G>C (n.*3099G>C)
n.3245G>C
c.*3177G>C (n.*3177G>C)
n.336G>C
c.3484G>C (p.Glu1162Gln)
c.3442G>C (p.Glu1148Gln)
c.3706G>C (p.Glu1236Gln)
c.3628G>C (p.Glu1210Gln)
c.3595G>C (p.Glu1199Gln)
c.3604G>C (p.Glu1202Gln)
c.2614G>C (p.Glu872Gln)
1g.154584910C>TCA16616992ADARc.3471G>A (n.3471G>A)
c.3607G>A (p.Glu1203Lys)
c.3460G>A (p.Glu1154Lys)
c.3229G>A (p.Glu1077Lys)
c.2692G>A (p.Glu898Lys)
c.3577G>A (p.Glu1193Lys)
n.2370G>A
c.3499G>A (p.Glu1167Lys)
n.3562G>A
c.*1052G>A (n.*1052G>A)
n.4313G>A
c.*743G>A (n.*743G>A)
c.*1809G>A (n.*1809G>A)
n.4438G>A
c.2635G>A (p.Glu879Lys)
c.3394G>A (p.Glu1132Lys)
c.*3099G>A (n.*3099G>A)
n.3245G>A
c.*3177G>A (n.*3177G>A)
n.336G>A
c.3484G>A (p.Glu1162Lys)
c.3442G>A (p.Glu1148Lys)
c.3706G>A (p.Glu1236Lys)
c.3628G>A (p.Glu1210Lys)
c.3595G>A (p.Glu1199Lys)
c.3604G>A (p.Glu1202Lys)
c.2614G>A (p.Glu872Lys)
 ClinVar dbSNP gnomAD v4
1g.154584911G>ACA1130919ADARc.3470C>T (n.3470C>T)
c.3606C>T (p.Tyr1202=)
c.3459C>T (p.Tyr1153=)
c.3228C>T (p.Tyr1076=)
c.2691C>T (p.Tyr897=)
c.3576C>T (p.Tyr1192=)
n.2369C>T
c.3498C>T (p.Tyr1166=)
n.3561C>T
c.*1051C>T (n.*1051C>T)
n.4312C>T
c.*742C>T (n.*742C>T)
c.*1808C>T (n.*1808C>T)
n.4437C>T
c.2634C>T (p.Tyr878=)
c.3393C>T (p.Tyr1131=)
c.*3098C>T (n.*3098C>T)
n.3244C>T
c.*3176C>T (n.*3176C>T)
n.335C>T
c.3483C>T (p.Tyr1161=)
c.3441C>T (p.Tyr1147=)
c.3705C>T (p.Tyr1235=)
c.3627C>T (p.Tyr1209=)
c.3594C>T (p.Tyr1198=)
c.3603C>T (p.Tyr1201=)
c.2613C>T (p.Tyr871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584911G>CCA342634658ADARc.3470C>G (n.3470C>G)
c.3606C>G (p.Tyr1202Ter)
c.3459C>G (p.Tyr1153Ter)
c.3228C>G (p.Tyr1076Ter)
c.2691C>G (p.Tyr897Ter)
c.3576C>G (p.Tyr1192Ter)
n.2369C>G
c.3498C>G (p.Tyr1166Ter)
n.3561C>G
c.*1051C>G (n.*1051C>G)
n.4312C>G
c.*742C>G (n.*742C>G)
c.*1808C>G (n.*1808C>G)
n.4437C>G
c.2634C>G (p.Tyr878Ter)
c.3393C>G (p.Tyr1131Ter)
c.*3098C>G (n.*3098C>G)
n.3244C>G
c.*3176C>G (n.*3176C>G)
n.335C>G
c.3483C>G (p.Tyr1161Ter)
c.3441C>G (p.Tyr1147Ter)
c.3705C>G (p.Tyr1235Ter)
c.3627C>G (p.Tyr1209Ter)
c.3594C>G (p.Tyr1198Ter)
c.3603C>G (p.Tyr1201Ter)
c.2613C>G (p.Tyr871Ter)
1g.154584911G=CA2480931198ADARc.3470C= (n.3470C=)
c.3606C= (p.Tyr1202=)
c.3459C= (p.Tyr1153=)
c.3228C= (p.Tyr1076=)
c.2691C= (p.Tyr897=)
c.3576C= (p.Tyr1192=)
n.2369C=
c.3498C= (p.Tyr1166=)
n.3561C=
c.*1051C= (n.*1051C=)
n.4312C=
c.*742C= (n.*742C=)
c.*1808C= (n.*1808C=)
n.4437C=
c.2634C= (p.Tyr878=)
c.3393C= (p.Tyr1131=)
c.*3098C= (n.*3098C=)
n.3244C=
c.*3176C= (n.*3176C=)
n.335C=
c.3483C= (p.Tyr1161=)
c.3441C= (p.Tyr1147=)
c.3705C= (p.Tyr1235=)
c.3627C= (p.Tyr1209=)
c.3594C= (p.Tyr1198=)
c.3603C= (p.Tyr1201=)
c.2613C= (p.Tyr871=)
1g.154584911G>TCA342634659ADARc.3470C>A (n.3470C>A)
c.3606C>A (p.Tyr1202Ter)
c.3459C>A (p.Tyr1153Ter)
c.3228C>A (p.Tyr1076Ter)
c.2691C>A (p.Tyr897Ter)
c.3576C>A (p.Tyr1192Ter)
n.2369C>A
c.3498C>A (p.Tyr1166Ter)
n.3561C>A
c.*1051C>A (n.*1051C>A)
n.4312C>A
c.*742C>A (n.*742C>A)
c.*1808C>A (n.*1808C>A)
n.4437C>A
c.2634C>A (p.Tyr878Ter)
c.3393C>A (p.Tyr1131Ter)
c.*3098C>A (n.*3098C>A)
n.3244C>A
c.*3176C>A (n.*3176C>A)
n.335C>A
c.3483C>A (p.Tyr1161Ter)
c.3441C>A (p.Tyr1147Ter)
c.3705C>A (p.Tyr1235Ter)
c.3627C>A (p.Tyr1209Ter)
c.3594C>A (p.Tyr1198Ter)
c.3603C>A (p.Tyr1201Ter)
c.2613C>A (p.Tyr871Ter)
1g.154584912T>ACA342634660ADARc.3469A>T (n.3469A>T)
c.3605A>T (p.Tyr1202Phe)
c.3458A>T (p.Tyr1153Phe)
c.3227A>T (p.Tyr1076Phe)
c.2690A>T (p.Tyr897Phe)
c.3575A>T (p.Tyr1192Phe)
n.2368A>T
c.3497A>T (p.Tyr1166Phe)
n.3560A>T
c.*1050A>T (n.*1050A>T)
n.4311A>T
c.*741A>T (n.*741A>T)
c.*1807A>T (n.*1807A>T)
n.4436A>T
c.2633A>T (p.Tyr878Phe)
c.3392A>T (p.Tyr1131Phe)
c.*3097A>T (n.*3097A>T)
n.3243A>T
c.*3175A>T (n.*3175A>T)
n.334A>T
c.3482A>T (p.Tyr1161Phe)
c.3440A>T (p.Tyr1147Phe)
c.3704A>T (p.Tyr1235Phe)
c.3626A>T (p.Tyr1209Phe)
c.3593A>T (p.Tyr1198Phe)
c.3602A>T (p.Tyr1201Phe)
c.2612A>T (p.Tyr871Phe)
1g.154584912T>CCA342634661ADARc.3469A>G (n.3469A>G)
c.3605A>G (p.Tyr1202Cys)
c.3458A>G (p.Tyr1153Cys)
c.3227A>G (p.Tyr1076Cys)
c.2690A>G (p.Tyr897Cys)
c.3575A>G (p.Tyr1192Cys)
n.2368A>G
c.3497A>G (p.Tyr1166Cys)
n.3560A>G
c.*1050A>G (n.*1050A>G)
n.4311A>G
c.*741A>G (n.*741A>G)
c.*1807A>G (n.*1807A>G)
n.4436A>G
c.2633A>G (p.Tyr878Cys)
c.3392A>G (p.Tyr1131Cys)
c.*3097A>G (n.*3097A>G)
n.3243A>G
c.*3175A>G (n.*3175A>G)
n.334A>G
c.3482A>G (p.Tyr1161Cys)
c.3440A>G (p.Tyr1147Cys)
c.3704A>G (p.Tyr1235Cys)
c.3626A>G (p.Tyr1209Cys)
c.3593A>G (p.Tyr1198Cys)
c.3602A>G (p.Tyr1201Cys)
c.2612A>G (p.Tyr871Cys)
 gnomAD v4
1g.154584912T>GCA342634662ADARc.3469A>C (n.3469A>C)
c.3605A>C (p.Tyr1202Ser)
c.3458A>C (p.Tyr1153Ser)
c.3227A>C (p.Tyr1076Ser)
c.2690A>C (p.Tyr897Ser)
c.3575A>C (p.Tyr1192Ser)
n.2368A>C
c.3497A>C (p.Tyr1166Ser)
n.3560A>C
c.*1050A>C (n.*1050A>C)
n.4311A>C
c.*741A>C (n.*741A>C)
c.*1807A>C (n.*1807A>C)
n.4436A>C
c.2633A>C (p.Tyr878Ser)
c.3392A>C (p.Tyr1131Ser)
c.*3097A>C (n.*3097A>C)
n.3243A>C
c.*3175A>C (n.*3175A>C)
n.334A>C
c.3482A>C (p.Tyr1161Ser)
c.3440A>C (p.Tyr1147Ser)
c.3704A>C (p.Tyr1235Ser)
c.3626A>C (p.Tyr1209Ser)
c.3593A>C (p.Tyr1198Ser)
c.3602A>C (p.Tyr1201Ser)
c.2612A>C (p.Tyr871Ser)
1g.154584913A>CCA342634663ADARc.3468T>G (n.3468T>G)
c.3604T>G (p.Tyr1202Asp)
c.3457T>G (p.Tyr1153Asp)
c.3226T>G (p.Tyr1076Asp)
c.2689T>G (p.Tyr897Asp)
c.3574T>G (p.Tyr1192Asp)
n.2367T>G
c.3496T>G (p.Tyr1166Asp)
n.3559T>G
c.*1049T>G (n.*1049T>G)
n.4310T>G
c.*740T>G (n.*740T>G)
c.*1806T>G (n.*1806T>G)
n.4435T>G
c.2632T>G (p.Tyr878Asp)
c.3391T>G (p.Tyr1131Asp)
c.*3096T>G (n.*3096T>G)
n.3242T>G
c.*3174T>G (n.*3174T>G)
n.333T>G
c.3481T>G (p.Tyr1161Asp)
c.3439T>G (p.Tyr1147Asp)
c.3703T>G (p.Tyr1235Asp)
c.3625T>G (p.Tyr1209Asp)
c.3592T>G (p.Tyr1198Asp)
c.3601T>G (p.Tyr1201Asp)
c.2611T>G (p.Tyr871Asp)
 ClinVar
1g.154584913A>GCA342634664ADARc.3468T>C (n.3468T>C)
c.3604T>C (p.Tyr1202His)
c.3457T>C (p.Tyr1153His)
c.3226T>C (p.Tyr1076His)
c.2689T>C (p.Tyr897His)
c.3574T>C (p.Tyr1192His)
n.2367T>C
c.3496T>C (p.Tyr1166His)
n.3559T>C
c.*1049T>C (n.*1049T>C)
n.4310T>C
c.*740T>C (n.*740T>C)
c.*1806T>C (n.*1806T>C)
n.4435T>C
c.2632T>C (p.Tyr878His)
c.3391T>C (p.Tyr1131His)
c.*3096T>C (n.*3096T>C)
n.3242T>C
c.*3174T>C (n.*3174T>C)
n.333T>C
c.3481T>C (p.Tyr1161His)
c.3439T>C (p.Tyr1147His)
c.3703T>C (p.Tyr1235His)
c.3625T>C (p.Tyr1209His)
c.3592T>C (p.Tyr1198His)
c.3601T>C (p.Tyr1201His)
c.2611T>C (p.Tyr871His)
1g.154584913A>TCA342634665ADARc.3468T>A (n.3468T>A)
c.3604T>A (p.Tyr1202Asn)
c.3457T>A (p.Tyr1153Asn)
c.3226T>A (p.Tyr1076Asn)
c.2689T>A (p.Tyr897Asn)
c.3574T>A (p.Tyr1192Asn)
n.2367T>A
c.3496T>A (p.Tyr1166Asn)
n.3559T>A
c.*1049T>A (n.*1049T>A)
n.4310T>A
c.*740T>A (n.*740T>A)
c.*1806T>A (n.*1806T>A)
n.4435T>A
c.2632T>A (p.Tyr878Asn)
c.3391T>A (p.Tyr1131Asn)
c.*3096T>A (n.*3096T>A)
n.3242T>A
c.*3174T>A (n.*3174T>A)
n.333T>A
c.3481T>A (p.Tyr1161Asn)
c.3439T>A (p.Tyr1147Asn)
c.3703T>A (p.Tyr1235Asn)
c.3625T>A (p.Tyr1209Asn)
c.3592T>A (p.Tyr1198Asn)
c.3601T>A (p.Tyr1201Asn)
c.2611T>A (p.Tyr871Asn)
1g.154584914G>ACA421231449ADARc.3467C>T (n.3467C>T)
c.3603C>T (p.Asp1201=)
c.3456C>T (p.Asp1152=)
c.3225C>T (p.Asp1075=)
c.2688C>T (p.Asp896=)
c.3573C>T (p.Asp1191=)
n.2366C>T
c.3495C>T (p.Asp1165=)
n.3558C>T
c.*1048C>T (n.*1048C>T)
n.4309C>T
c.*739C>T (n.*739C>T)
c.*1805C>T (n.*1805C>T)
n.4434C>T
c.2631C>T (p.Asp877=)
c.3390C>T (p.Asp1130=)
c.*3095C>T (n.*3095C>T)
n.3241C>T
c.*3173C>T (n.*3173C>T)
n.332C>T
c.3480C>T (p.Asp1160=)
c.3438C>T (p.Asp1146=)
c.3702C>T (p.Asp1234=)
c.3624C>T (p.Asp1208=)
c.3591C>T (p.Asp1197=)
c.3600C>T (p.Asp1200=)
c.2610C>T (p.Asp870=)
1g.154584914G>CCA342634666ADARc.3467C>G (n.3467C>G)
c.3603C>G (p.Asp1201Glu)
c.3456C>G (p.Asp1152Glu)
c.3225C>G (p.Asp1075Glu)
c.2688C>G (p.Asp896Glu)
c.3573C>G (p.Asp1191Glu)
n.2366C>G
c.3495C>G (p.Asp1165Glu)
n.3558C>G
c.*1048C>G (n.*1048C>G)
n.4309C>G
c.*739C>G (n.*739C>G)
c.*1805C>G (n.*1805C>G)
n.4434C>G
c.2631C>G (p.Asp877Glu)
c.3390C>G (p.Asp1130Glu)
c.*3095C>G (n.*3095C>G)
n.3241C>G
c.*3173C>G (n.*3173C>G)
n.332C>G
c.3480C>G (p.Asp1160Glu)
c.3438C>G (p.Asp1146Glu)
c.3702C>G (p.Asp1234Glu)
c.3624C>G (p.Asp1208Glu)
c.3591C>G (p.Asp1197Glu)
c.3600C>G (p.Asp1200Glu)
c.2610C>G (p.Asp870Glu)
1g.154584914G>TCA342634667ADARc.3467C>A (n.3467C>A)
c.3603C>A (p.Asp1201Glu)
c.3456C>A (p.Asp1152Glu)
c.3225C>A (p.Asp1075Glu)
c.2688C>A (p.Asp896Glu)
c.3573C>A (p.Asp1191Glu)
n.2366C>A
c.3495C>A (p.Asp1165Glu)
n.3558C>A
c.*1048C>A (n.*1048C>A)
n.4309C>A
c.*739C>A (n.*739C>A)
c.*1805C>A (n.*1805C>A)
n.4434C>A
c.2631C>A (p.Asp877Glu)
c.3390C>A (p.Asp1130Glu)
c.*3095C>A (n.*3095C>A)
n.3241C>A
c.*3173C>A (n.*3173C>A)
n.332C>A
c.3480C>A (p.Asp1160Glu)
c.3438C>A (p.Asp1146Glu)
c.3702C>A (p.Asp1234Glu)
c.3624C>A (p.Asp1208Glu)
c.3591C>A (p.Asp1197Glu)
c.3600C>A (p.Asp1200Glu)
c.2610C>A (p.Asp870Glu)
 dbSNP
1g.154584915T>ACA342634669ADARc.3466A>T (n.3466A>T)
c.3602A>T (p.Asp1201Val)
c.3455A>T (p.Asp1152Val)
c.3224A>T (p.Asp1075Val)
c.2687A>T (p.Asp896Val)
c.3572A>T (p.Asp1191Val)
n.2365A>T
c.3494A>T (p.Asp1165Val)
n.3557A>T
c.*1047A>T (n.*1047A>T)
n.4308A>T
c.*738A>T (n.*738A>T)
c.*1804A>T (n.*1804A>T)
n.4433A>T
c.2630A>T (p.Asp877Val)
c.3389A>T (p.Asp1130Val)
c.*3094A>T (n.*3094A>T)
n.3240A>T
c.*3172A>T (n.*3172A>T)
n.331A>T
c.3479A>T (p.Asp1160Val)
c.3437A>T (p.Asp1146Val)
c.3701A>T (p.Asp1234Val)
c.3623A>T (p.Asp1208Val)
c.3590A>T (p.Asp1197Val)
c.3599A>T (p.Asp1200Val)
c.2609A>T (p.Asp870Val)
1g.154584915T>CCA342634670ADARc.3466A>G (n.3466A>G)
c.3602A>G (p.Asp1201Gly)
c.3455A>G (p.Asp1152Gly)
c.3224A>G (p.Asp1075Gly)
c.2687A>G (p.Asp896Gly)
c.3572A>G (p.Asp1191Gly)
n.2365A>G
c.3494A>G (p.Asp1165Gly)
n.3557A>G
c.*1047A>G (n.*1047A>G)
n.4308A>G
c.*738A>G (n.*738A>G)
c.*1804A>G (n.*1804A>G)
n.4433A>G
c.2630A>G (p.Asp877Gly)
c.3389A>G (p.Asp1130Gly)
c.*3094A>G (n.*3094A>G)
n.3240A>G
c.*3172A>G (n.*3172A>G)
n.331A>G
c.3479A>G (p.Asp1160Gly)
c.3437A>G (p.Asp1146Gly)
c.3701A>G (p.Asp1234Gly)
c.3623A>G (p.Asp1208Gly)
c.3590A>G (p.Asp1197Gly)
c.3599A>G (p.Asp1200Gly)
c.2609A>G (p.Asp870Gly)
1g.154584915T>GCA342634668ADARc.3466A>C (n.3466A>C)
c.3602A>C (p.Asp1201Ala)
c.3455A>C (p.Asp1152Ala)
c.3224A>C (p.Asp1075Ala)
c.2687A>C (p.Asp896Ala)
c.3572A>C (p.Asp1191Ala)
n.2365A>C
c.3494A>C (p.Asp1165Ala)
n.3557A>C
c.*1047A>C (n.*1047A>C)
n.4308A>C
c.*738A>C (n.*738A>C)
c.*1804A>C (n.*1804A>C)
n.4433A>C
c.2630A>C (p.Asp877Ala)
c.3389A>C (p.Asp1130Ala)
c.*3094A>C (n.*3094A>C)
n.3240A>C
c.*3172A>C (n.*3172A>C)
n.331A>C
c.3479A>C (p.Asp1160Ala)
c.3437A>C (p.Asp1146Ala)
c.3701A>C (p.Asp1234Ala)
c.3623A>C (p.Asp1208Ala)
c.3590A>C (p.Asp1197Ala)
c.3599A>C (p.Asp1200Ala)
c.2609A>C (p.Asp870Ala)
1g.154584915_154584916insAACA2740187397ADARc.3465_3466insTT (n.3465_3466insTT)
c.3601_3602insTT (p.Asp1201ValfsTer14)
c.3454_3455insTT (p.Asp1152ValfsTer14)
c.3223_3224insTT (p.Asp1075ValfsTer14)
c.2686_2687insTT (p.Asp896ValfsTer14)
c.3571_3572insTT (p.Asp1191ValfsTer14)
n.2364_2365insTT
c.3493_3494insTT (p.Asp1165ValfsTer14)
n.3556_3557insTT
c.*1046_*1047insTT (n.*1046_*1047insTT)
n.4307_4308insTT
c.*737_*738insTT (n.*737_*738insTT)
c.*1803_*1804insTT (n.*1803_*1804insTT)
n.4432_4433insTT
c.2629_2630insTT (p.Asp877ValfsTer14)
c.3388_3389insTT (p.Asp1130ValfsTer14)
c.*3093_*3094insTT (n.*3093_*3094insTT)
n.3239_3240insTT
c.*3171_*3172insTT (n.*3171_*3172insTT)
n.330_331insTT
c.3478_3479insTT (p.Asp1160ValfsTer14)
c.3436_3437insTT (p.Asp1146ValfsTer14)
c.3700_3701insTT (p.Asp1234ValfsTer14)
c.3622_3623insTT (p.Asp1208ValfsTer14)
c.3589_3590insTT (p.Asp1197ValfsTer14)
c.3598_3599insTT (p.Asp1200ValfsTer14)
c.2608_2609insTT (p.Asp870ValfsTer14)
1g.154584916C>ACA342634671ADARc.3465G>T (n.3465G>T)
c.3601G>T (p.Asp1201Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3223G>T (p.Asp1075Tyr)
c.2686G>T (p.Asp896Tyr)
c.3571G>T (p.Asp1191Tyr)
n.2364G>T
c.3493G>T (p.Asp1165Tyr)
n.3556G>T
c.*1046G>T (n.*1046G>T)
n.4307G>T
c.*737G>T (n.*737G>T)
c.*1803G>T (n.*1803G>T)
n.4432G>T
c.2629G>T (p.Asp877Tyr)
c.3388G>T (p.Asp1130Tyr)
c.*3093G>T (n.*3093G>T)
n.3239G>T
c.*3171G>T (n.*3171G>T)
n.330G>T
c.3478G>T (p.Asp1160Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3598G>T (p.Asp1200Tyr)
c.2608G>T (p.Asp870Tyr)
1g.154584916C=CA2480931199ADARc.3465G= (n.3465G=)
c.3601G= (p.Asp1201=)
c.3454G= (p.Asp1152=)
c.3223G= (p.Asp1075=)
c.2686G= (p.Asp896=)
c.3571G= (p.Asp1191=)
n.2364G=
c.3493G= (p.Asp1165=)
n.3556G=
c.*1046G= (n.*1046G=)
n.4307G=
c.*737G= (n.*737G=)
c.*1803G= (n.*1803G=)
n.4432G=
c.2629G= (p.Asp877=)
c.3388G= (p.Asp1130=)
c.*3093G= (n.*3093G=)
n.3239G=
c.*3171G= (n.*3171G=)
n.330G=
c.3478G= (p.Asp1160=)
c.3436G= (p.Asp1146=)
c.3700G= (p.Asp1234=)
c.3622G= (p.Asp1208=)
c.3589G= (p.Asp1197=)
c.3598G= (p.Asp1200=)
c.2608G= (p.Asp870=)
1g.154584916C>GCA342634672ADARc.3465G>C (n.3465G>C)
c.3601G>C (p.Asp1201His)
c.3454G>C (p.Asp1152His)
c.3223G>C (p.Asp1075His)
c.2686G>C (p.Asp896His)
c.3571G>C (p.Asp1191His)
n.2364G>C
c.3493G>C (p.Asp1165His)
n.3556G>C
c.*1046G>C (n.*1046G>C)
n.4307G>C
c.*737G>C (n.*737G>C)
c.*1803G>C (n.*1803G>C)
n.4432G>C
c.2629G>C (p.Asp877His)
c.3388G>C (p.Asp1130His)
c.*3093G>C (n.*3093G>C)
n.3239G>C
c.*3171G>C (n.*3171G>C)
n.330G>C
c.3478G>C (p.Asp1160His)
c.3436G>C (p.Asp1146His)
c.3700G>C (p.Asp1234His)
c.3622G>C (p.Asp1208His)
c.3589G>C (p.Asp1197His)
c.3598G>C (p.Asp1200His)
c.2608G>C (p.Asp870His)
 ClinVar dbSNP gnomAD v4
1g.154584916C>TCA342634673ADARc.3465G>A (n.3465G>A)
c.3601G>A (p.Asp1201Asn)
c.3454G>A (p.Asp1152Asn)
c.3223G>A (p.Asp1075Asn)
c.2686G>A (p.Asp896Asn)
c.3571G>A (p.Asp1191Asn)
n.2364G>A
c.3493G>A (p.Asp1165Asn)
n.3556G>A
c.*1046G>A (n.*1046G>A)
n.4307G>A
c.*737G>A (n.*737G>A)
c.*1803G>A (n.*1803G>A)
n.4432G>A
c.2629G>A (p.Asp877Asn)
c.3388G>A (p.Asp1130Asn)
c.*3093G>A (n.*3093G>A)
n.3239G>A
c.*3171G>A (n.*3171G>A)
n.330G>A
c.3478G>A (p.Asp1160Asn)
c.3436G>A (p.Asp1146Asn)
c.3700G>A (p.Asp1234Asn)
c.3622G>A (p.Asp1208Asn)
c.3589G>A (p.Asp1197Asn)
c.3598G>A (p.Asp1200Asn)
c.2608G>A (p.Asp870Asn)
1g.154584917A=CA2480931200ADARc.3464T= (n.3464T=)
c.3600T= (p.Arg1200=)
c.3453T= (p.Arg1151=)
c.3222T= (p.Arg1074=)
c.2685T= (p.Arg895=)
c.3570T= (p.Arg1190=)
n.2363T=
c.3492T= (p.Arg1164=)
n.3555T=
c.*1045T= (n.*1045T=)
n.4306T=
c.*736T= (n.*736T=)
c.*1802T= (n.*1802T=)
n.4431T=
c.2628T= (p.Arg876=)
c.3387T= (p.Arg1129=)
c.*3092T= (n.*3092T=)
n.3238T=
c.*3170T= (n.*3170T=)
n.329T=
c.3477T= (p.Arg1159=)
c.3435T= (p.Arg1145=)
c.3699T= (p.Arg1233=)
c.3621T= (p.Arg1207=)
c.3588T= (p.Arg1196=)
c.3597T= (p.Arg1199=)
c.2607T= (p.Arg869=)
1g.154584917A>CCA421231450ADARc.3464T>G (n.3464T>G)
c.3600T>G (p.Arg1200=)
c.3453T>G (p.Arg1151=)
c.3222T>G (p.Arg1074=)
c.2685T>G (p.Arg895=)
c.3570T>G (p.Arg1190=)
n.2363T>G
c.3492T>G (p.Arg1164=)
n.3555T>G
c.*1045T>G (n.*1045T>G)
n.4306T>G
c.*736T>G (n.*736T>G)
c.*1802T>G (n.*1802T>G)
n.4431T>G
c.2628T>G (p.Arg876=)
c.3387T>G (p.Arg1129=)
c.*3092T>G (n.*3092T>G)
n.3238T>G
c.*3170T>G (n.*3170T>G)
n.329T>G
c.3477T>G (p.Arg1159=)
c.3435T>G (p.Arg1145=)
c.3699T>G (p.Arg1233=)
c.3621T>G (p.Arg1207=)
c.3588T>G (p.Arg1196=)
c.3597T>G (p.Arg1199=)
c.2607T>G (p.Arg869=)
 dbSNP
1g.154584917A>GCA421231452ADARc.3464T>C (n.3464T>C)
c.3600T>C (p.Arg1200=)
c.3453T>C (p.Arg1151=)
c.3222T>C (p.Arg1074=)
c.2685T>C (p.Arg895=)
c.3570T>C (p.Arg1190=)
n.2363T>C
c.3492T>C (p.Arg1164=)
n.3555T>C
c.*1045T>C (n.*1045T>C)
n.4306T>C
c.*736T>C (n.*736T>C)
c.*1802T>C (n.*1802T>C)
n.4431T>C
c.2628T>C (p.Arg876=)
c.3387T>C (p.Arg1129=)
c.*3092T>C (n.*3092T>C)
n.3238T>C
c.*3170T>C (n.*3170T>C)
n.329T>C
c.3477T>C (p.Arg1159=)
c.3435T>C (p.Arg1145=)
c.3699T>C (p.Arg1233=)
c.3621T>C (p.Arg1207=)
c.3588T>C (p.Arg1196=)
c.3597T>C (p.Arg1199=)
c.2607T>C (p.Arg869=)
1g.154584917A>TCA421231451ADARc.3464T>A (n.3464T>A)
c.3600T>A (p.Arg1200=)
c.3453T>A (p.Arg1151=)
c.3222T>A (p.Arg1074=)
c.2685T>A (p.Arg895=)
c.3570T>A (p.Arg1190=)
n.2363T>A
c.3492T>A (p.Arg1164=)
n.3555T>A
c.*1045T>A (n.*1045T>A)
n.4306T>A
c.*736T>A (n.*736T>A)
c.*1802T>A (n.*1802T>A)
n.4431T>A
c.2628T>A (p.Arg876=)
c.3387T>A (p.Arg1129=)
c.*3092T>A (n.*3092T>A)
n.3238T>A
c.*3170T>A (n.*3170T>A)
n.329T>A
c.3477T>A (p.Arg1159=)
c.3435T>A (p.Arg1145=)
c.3699T>A (p.Arg1233=)
c.3621T>A (p.Arg1207=)
c.3588T>A (p.Arg1196=)
c.3597T>A (p.Arg1199=)
c.2607T>A (p.Arg869=)
1g.154584918C>ACA342634674ADARc.3463G>T (n.3463G>T)
c.3599G>T (p.Arg1200Leu)
c.3452G>T (p.Arg1151Leu)
c.3221G>T (p.Arg1074Leu)
c.2684G>T (p.Arg895Leu)
c.3569G>T (p.Arg1190Leu)
n.2362G>T
c.3491G>T (p.Arg1164Leu)
n.3554G>T
c.*1044G>T (n.*1044G>T)
n.4305G>T
c.*735G>T (n.*735G>T)
c.*1801G>T (n.*1801G>T)
n.4430G>T
c.2627G>T (p.Arg876Leu)
c.3386G>T (p.Arg1129Leu)
c.*3091G>T (n.*3091G>T)
n.3237G>T
c.*3169G>T (n.*3169G>T)
n.328G>T
c.3476G>T (p.Arg1159Leu)
c.3434G>T (p.Arg1145Leu)
c.3698G>T (p.Arg1233Leu)
c.3620G>T (p.Arg1207Leu)
c.3587G>T (p.Arg1196Leu)
c.3596G>T (p.Arg1199Leu)
c.2606G>T (p.Arg869Leu)
1g.154584918C=CA2480931201ADARc.3463G= (n.3463G=)
c.3599G= (p.Arg1200=)
c.3452G= (p.Arg1151=)
c.3221G= (p.Arg1074=)
c.2684G= (p.Arg895=)
c.3569G= (p.Arg1190=)
n.2362G=
c.3491G= (p.Arg1164=)
n.3554G=
c.*1044G= (n.*1044G=)
n.4305G=
c.*735G= (n.*735G=)
c.*1801G= (n.*1801G=)
n.4430G=
c.2627G= (p.Arg876=)
c.3386G= (p.Arg1129=)
c.*3091G= (n.*3091G=)
n.3237G=
c.*3169G= (n.*3169G=)
n.328G=
c.3476G= (p.Arg1159=)
c.3434G= (p.Arg1145=)
c.3698G= (p.Arg1233=)
c.3620G= (p.Arg1207=)
c.3587G= (p.Arg1196=)
c.3596G= (p.Arg1199=)
c.2606G= (p.Arg869=)
1g.154584918C>GCA342634675ADARc.3463G>C (n.3463G>C)
c.3599G>C (p.Arg1200Pro)
c.3452G>C (p.Arg1151Pro)
c.3221G>C (p.Arg1074Pro)
c.2684G>C (p.Arg895Pro)
c.3569G>C (p.Arg1190Pro)
n.2362G>C
c.3491G>C (p.Arg1164Pro)
n.3554G>C
c.*1044G>C (n.*1044G>C)
n.4305G>C
c.*735G>C (n.*735G>C)
c.*1801G>C (n.*1801G>C)
n.4430G>C
c.2627G>C (p.Arg876Pro)
c.3386G>C (p.Arg1129Pro)
c.*3091G>C (n.*3091G>C)
n.3237G>C
c.*3169G>C (n.*3169G>C)
n.328G>C
c.3476G>C (p.Arg1159Pro)
c.3434G>C (p.Arg1145Pro)
c.3698G>C (p.Arg1233Pro)
c.3620G>C (p.Arg1207Pro)
c.3587G>C (p.Arg1196Pro)
c.3596G>C (p.Arg1199Pro)
c.2606G>C (p.Arg869Pro)
1g.154584918C>TCA342634676ADARc.3463G>A (n.3463G>A)
c.3599G>A (p.Arg1200His)
c.3452G>A (p.Arg1151His)
c.3221G>A (p.Arg1074His)
c.2684G>A (p.Arg895His)
c.3569G>A (p.Arg1190His)
n.2362G>A
c.3491G>A (p.Arg1164His)
n.3554G>A
c.*1044G>A (n.*1044G>A)
n.4305G>A
c.*735G>A (n.*735G>A)
c.*1801G>A (n.*1801G>A)
n.4430G>A
c.2627G>A (p.Arg876His)
c.3386G>A (p.Arg1129His)
c.*3091G>A (n.*3091G>A)
n.3237G>A
c.*3169G>A (n.*3169G>A)
n.328G>A
c.3476G>A (p.Arg1159His)
c.3434G>A (p.Arg1145His)
c.3698G>A (p.Arg1233His)
c.3620G>A (p.Arg1207His)
c.3587G>A (p.Arg1196His)
c.3596G>A (p.Arg1199His)
c.2606G>A (p.Arg869His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154584919G>ACA30848594ADARc.3462C>T (n.3462C>T)
c.3598C>T (p.Arg1200Cys)
c.3451C>T (p.Arg1151Cys)
c.3220C>T (p.Arg1074Cys)
c.2683C>T (p.Arg895Cys)
c.3568C>T (p.Arg1190Cys)
n.2361C>T
c.3490C>T (p.Arg1164Cys)
n.3553C>T
c.*1043C>T (n.*1043C>T)
n.4304C>T
c.*734C>T (n.*734C>T)
c.*1800C>T (n.*1800C>T)
n.4429C>T
c.2626C>T (p.Arg876Cys)
c.3385C>T (p.Arg1129Cys)
c.*3090C>T (n.*3090C>T)
n.3236C>T
c.*3168C>T (n.*3168C>T)
n.327C>T
c.3475C>T (p.Arg1159Cys)
c.3433C>T (p.Arg1145Cys)
c.3697C>T (p.Arg1233Cys)
c.3619C>T (p.Arg1207Cys)
c.3586C>T (p.Arg1196Cys)
c.3595C>T (p.Arg1199Cys)
c.2605C>T (p.Arg869Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584919G>CCA342634678ADARc.3462C>G (n.3462C>G)
c.3598C>G (p.Arg1200Gly)
c.3451C>G (p.Arg1151Gly)
c.3220C>G (p.Arg1074Gly)
c.2683C>G (p.Arg895Gly)
c.3568C>G (p.Arg1190Gly)
n.2361C>G
c.3490C>G (p.Arg1164Gly)
n.3553C>G
c.*1043C>G (n.*1043C>G)
n.4304C>G
c.*734C>G (n.*734C>G)
c.*1800C>G (n.*1800C>G)
n.4429C>G
c.2626C>G (p.Arg876Gly)
c.3385C>G (p.Arg1129Gly)
c.*3090C>G (n.*3090C>G)
n.3236C>G
c.*3168C>G (n.*3168C>G)
n.327C>G
c.3475C>G (p.Arg1159Gly)
c.3433C>G (p.Arg1145Gly)
c.3697C>G (p.Arg1233Gly)
c.3619C>G (p.Arg1207Gly)
c.3586C>G (p.Arg1196Gly)
c.3595C>G (p.Arg1199Gly)
c.2605C>G (p.Arg869Gly)
 ClinVar dbSNP gnomAD v4
1g.154584919G=CA2480931202ADARc.3462C= (n.3462C=)
c.3598C= (p.Arg1200=)
c.3451C= (p.Arg1151=)
c.3220C= (p.Arg1074=)
c.2683C= (p.Arg895=)
c.3568C= (p.Arg1190=)
n.2361C=
c.3490C= (p.Arg1164=)
n.3553C=
c.*1043C= (n.*1043C=)
n.4304C=
c.*734C= (n.*734C=)
c.*1800C= (n.*1800C=)
n.4429C=
c.2626C= (p.Arg876=)
c.3385C= (p.Arg1129=)
c.*3090C= (n.*3090C=)
n.3236C=
c.*3168C= (n.*3168C=)
n.327C=
c.3475C= (p.Arg1159=)
c.3433C= (p.Arg1145=)
c.3697C= (p.Arg1233=)
c.3619C= (p.Arg1207=)
c.3586C= (p.Arg1196=)
c.3595C= (p.Arg1199=)
c.2605C= (p.Arg869=)
1g.154584919G>TCA342634677ADARc.3462C>A (n.3462C>A)
c.3598C>A (p.Arg1200Ser)
c.3451C>A (p.Arg1151Ser)
c.3220C>A (p.Arg1074Ser)
c.2683C>A (p.Arg895Ser)
c.3568C>A (p.Arg1190Ser)
n.2361C>A
c.3490C>A (p.Arg1164Ser)
n.3553C>A
c.*1043C>A (n.*1043C>A)
n.4304C>A
c.*734C>A (n.*734C>A)
c.*1800C>A (n.*1800C>A)
n.4429C>A
c.2626C>A (p.Arg876Ser)
c.3385C>A (p.Arg1129Ser)
c.*3090C>A (n.*3090C>A)
n.3236C>A
c.*3168C>A (n.*3168C>A)
n.327C>A
c.3475C>A (p.Arg1159Ser)
c.3433C>A (p.Arg1145Ser)
c.3697C>A (p.Arg1233Ser)
c.3619C>A (p.Arg1207Ser)
c.3586C>A (p.Arg1196Ser)
c.3595C>A (p.Arg1199Ser)
c.2605C>A (p.Arg869Ser)
1g.154584920G>ACA1130920ADARc.3461C>T (n.3461C>T)
c.3597C>T (p.Ala1199=)
c.3450C>T (p.Ala1150=)
c.3219C>T (p.Ala1073=)
c.2682C>T (p.Ala894=)
c.3567C>T (p.Ala1189=)
n.2360C>T
c.3489C>T (p.Ala1163=)
n.3552C>T
c.*1042C>T (n.*1042C>T)
n.4303C>T
c.*733C>T (n.*733C>T)
c.*1799C>T (n.*1799C>T)
n.4428C>T
c.2625C>T (p.Ala875=)
c.3384C>T (p.Ala1128=)
c.*3089C>T (n.*3089C>T)
n.3235C>T
c.*3167C>T (n.*3167C>T)
n.326C>T
c.3474C>T (p.Ala1158=)
c.3432C>T (p.Ala1144=)
c.3696C>T (p.Ala1232=)
c.3618C>T (p.Ala1206=)
c.3585C>T (p.Ala1195=)
c.3594C>T (p.Ala1198=)
c.2604C>T (p.Ala868=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584920G>CCA421231454ADARc.3461C>G (n.3461C>G)
c.3597C>G (p.Ala1199=)
c.3450C>G (p.Ala1150=)
c.3219C>G (p.Ala1073=)
c.2682C>G (p.Ala894=)
c.3567C>G (p.Ala1189=)
n.2360C>G
c.3489C>G (p.Ala1163=)
n.3552C>G
c.*1042C>G (n.*1042C>G)
n.4303C>G
c.*733C>G (n.*733C>G)
c.*1799C>G (n.*1799C>G)
n.4428C>G
c.2625C>G (p.Ala875=)
c.3384C>G (p.Ala1128=)
c.*3089C>G (n.*3089C>G)
n.3235C>G
c.*3167C>G (n.*3167C>G)
n.326C>G
c.3474C>G (p.Ala1158=)
c.3432C>G (p.Ala1144=)
c.3696C>G (p.Ala1232=)
c.3618C>G (p.Ala1206=)
c.3585C>G (p.Ala1195=)
c.3594C>G (p.Ala1198=)
c.2604C>G (p.Ala868=)
 gnomAD v4
1g.154584920G=CA1143732040ADARc.3461C= (n.3461C=)
c.3597C= (p.Ala1199=)
c.3450C= (p.Ala1150=)
c.3219C= (p.Ala1073=)
c.2682C= (p.Ala894=)
c.3567C= (p.Ala1189=)
n.2360C=
c.3489C= (p.Ala1163=)
n.3552C=
c.*1042C= (n.*1042C=)
n.4303C=
c.*733C= (n.*733C=)
c.*1799C= (n.*1799C=)
n.4428C=
c.2625C= (p.Ala875=)
c.3384C= (p.Ala1128=)
c.*3089C= (n.*3089C=)
n.3235C=
c.*3167C= (n.*3167C=)
n.326C=
c.3474C= (p.Ala1158=)
c.3432C= (p.Ala1144=)
c.3696C= (p.Ala1232=)
c.3618C= (p.Ala1206=)
c.3585C= (p.Ala1195=)
c.3594C= (p.Ala1198=)
c.2604C= (p.Ala868=)
1g.154584920G>TCA421231455ADARc.3461C>A (n.3461C>A)
c.3597C>A (p.Ala1199=)
c.3450C>A (p.Ala1150=)
c.3219C>A (p.Ala1073=)
c.2682C>A (p.Ala894=)
c.3567C>A (p.Ala1189=)
n.2360C>A
c.3489C>A (p.Ala1163=)
n.3552C>A
c.*1042C>A (n.*1042C>A)
n.4303C>A
c.*733C>A (n.*733C>A)
c.*1799C>A (n.*1799C>A)
n.4428C>A
c.2625C>A (p.Ala875=)
c.3384C>A (p.Ala1128=)
c.*3089C>A (n.*3089C>A)
n.3235C>A
c.*3167C>A (n.*3167C>A)
n.326C>A
c.3474C>A (p.Ala1158=)
c.3432C>A (p.Ala1144=)
c.3696C>A (p.Ala1232=)
c.3618C>A (p.Ala1206=)
c.3585C>A (p.Ala1195=)
c.3594C>A (p.Ala1198=)
c.2604C>A (p.Ala868=)
1g.154584921G>ACA342634679ADARc.3460C>T (n.3460C>T)
c.3596C>T (p.Ala1199Val)
c.3449C>T (p.Ala1150Val)
c.3218C>T (p.Ala1073Val)
c.2681C>T (p.Ala894Val)
c.3566C>T (p.Ala1189Val)
n.2359C>T
c.3488C>T (p.Ala1163Val)
n.3551C>T
c.*1041C>T (n.*1041C>T)
n.4302C>T
c.*732C>T (n.*732C>T)
c.*1798C>T (n.*1798C>T)
n.4427C>T
c.2624C>T (p.Ala875Val)
c.3383C>T (p.Ala1128Val)
c.*3088C>T (n.*3088C>T)
n.3234C>T
c.*3166C>T (n.*3166C>T)
n.325C>T
c.3473C>T (p.Ala1158Val)
c.3431C>T (p.Ala1144Val)
c.3695C>T (p.Ala1232Val)
c.3617C>T (p.Ala1206Val)
c.3584C>T (p.Ala1195Val)
c.3593C>T (p.Ala1198Val)
c.2603C>T (p.Ala868Val)
 ClinVar
1g.154584921G>CCA342634680ADARc.3460C>G (n.3460C>G)
c.3596C>G (p.Ala1199Gly)
c.3449C>G (p.Ala1150Gly)
c.3218C>G (p.Ala1073Gly)
c.2681C>G (p.Ala894Gly)
c.3566C>G (p.Ala1189Gly)
n.2359C>G
c.3488C>G (p.Ala1163Gly)
n.3551C>G
c.*1041C>G (n.*1041C>G)
n.4302C>G
c.*732C>G (n.*732C>G)
c.*1798C>G (n.*1798C>G)
n.4427C>G
c.2624C>G (p.Ala875Gly)
c.3383C>G (p.Ala1128Gly)
c.*3088C>G (n.*3088C>G)
n.3234C>G
c.*3166C>G (n.*3166C>G)
n.325C>G
c.3473C>G (p.Ala1158Gly)
c.3431C>G (p.Ala1144Gly)
c.3695C>G (p.Ala1232Gly)
c.3617C>G (p.Ala1206Gly)
c.3584C>G (p.Ala1195Gly)
c.3593C>G (p.Ala1198Gly)
c.2603C>G (p.Ala868Gly)
1g.154584921G>TCA342634681ADARc.3460C>A (n.3460C>A)
c.3596C>A (p.Ala1199Asp)
c.3449C>A (p.Ala1150Asp)
c.3218C>A (p.Ala1073Asp)
c.2681C>A (p.Ala894Asp)
c.3566C>A (p.Ala1189Asp)
n.2359C>A
c.3488C>A (p.Ala1163Asp)
n.3551C>A
c.*1041C>A (n.*1041C>A)
n.4302C>A
c.*732C>A (n.*732C>A)
c.*1798C>A (n.*1798C>A)
n.4427C>A
c.2624C>A (p.Ala875Asp)
c.3383C>A (p.Ala1128Asp)
c.*3088C>A (n.*3088C>A)
n.3234C>A
c.*3166C>A (n.*3166C>A)
n.325C>A
c.3473C>A (p.Ala1158Asp)
c.3431C>A (p.Ala1144Asp)
c.3695C>A (p.Ala1232Asp)
c.3617C>A (p.Ala1206Asp)
c.3584C>A (p.Ala1195Asp)
c.3593C>A (p.Ala1198Asp)
c.2603C>A (p.Ala868Asp)
1g.154584922C>ACA342634682ADARc.3459G>T (n.3459G>T)
c.3595G>T (p.Ala1199Ser)
c.3448G>T (p.Ala1150Ser)
c.3217G>T (p.Ala1073Ser)
c.2680G>T (p.Ala894Ser)
c.3565G>T (p.Ala1189Ser)
n.2358G>T
c.3487G>T (p.Ala1163Ser)
n.3550G>T
c.*1040G>T (n.*1040G>T)
n.4301G>T
c.*731G>T (n.*731G>T)
c.*1797G>T (n.*1797G>T)
n.4426G>T
c.2623G>T (p.Ala875Ser)
c.3382G>T (p.Ala1128Ser)
c.*3087G>T (n.*3087G>T)
n.3233G>T
c.*3165G>T (n.*3165G>T)
n.324G>T
c.3472G>T (p.Ala1158Ser)
c.3430G>T (p.Ala1144Ser)
c.3694G>T (p.Ala1232Ser)
c.3616G>T (p.Ala1206Ser)
c.3583G>T (p.Ala1195Ser)
c.3592G>T (p.Ala1198Ser)
c.2602G>T (p.Ala868Ser)
1g.154584922C>GCA342634684ADARc.3459G>C (n.3459G>C)
c.3595G>C (p.Ala1199Pro)
c.3448G>C (p.Ala1150Pro)
c.3217G>C (p.Ala1073Pro)
c.2680G>C (p.Ala894Pro)
c.3565G>C (p.Ala1189Pro)
n.2358G>C
c.3487G>C (p.Ala1163Pro)
n.3550G>C
c.*1040G>C (n.*1040G>C)
n.4301G>C
c.*731G>C (n.*731G>C)
c.*1797G>C (n.*1797G>C)
n.4426G>C
c.2623G>C (p.Ala875Pro)
c.3382G>C (p.Ala1128Pro)
c.*3087G>C (n.*3087G>C)
n.3233G>C
c.*3165G>C (n.*3165G>C)
n.324G>C
c.3472G>C (p.Ala1158Pro)
c.3430G>C (p.Ala1144Pro)
c.3694G>C (p.Ala1232Pro)
c.3616G>C (p.Ala1206Pro)
c.3583G>C (p.Ala1195Pro)
c.3592G>C (p.Ala1198Pro)
c.2602G>C (p.Ala868Pro)
1g.154584922C>TCA342634683ADARc.3459G>A (n.3459G>A)
c.3595G>A (p.Ala1199Thr)
c.3448G>A (p.Ala1150Thr)
c.3217G>A (p.Ala1073Thr)
c.2680G>A (p.Ala894Thr)
c.3565G>A (p.Ala1189Thr)
n.2358G>A
c.3487G>A (p.Ala1163Thr)
n.3550G>A
c.*1040G>A (n.*1040G>A)
n.4301G>A
c.*731G>A (n.*731G>A)
c.*1797G>A (n.*1797G>A)
n.4426G>A
c.2623G>A (p.Ala875Thr)
c.3382G>A (p.Ala1128Thr)
c.*3087G>A (n.*3087G>A)
n.3233G>A
c.*3165G>A (n.*3165G>A)
n.324G>A
c.3472G>A (p.Ala1158Thr)
c.3430G>A (p.Ala1144Thr)
c.3694G>A (p.Ala1232Thr)
c.3616G>A (p.Ala1206Thr)
c.3583G>A (p.Ala1195Thr)
c.3592G>A (p.Ala1198Thr)
c.2602G>A (p.Ala868Thr)
1g.154584923A>CCA421231459ADARc.3458T>G (n.3458T>G)
c.3594T>G (p.Ala1198=)
c.3447T>G (p.Ala1149=)
c.3216T>G (p.Ala1072=)
c.2679T>G (p.Ala893=)
c.3564T>G (p.Ala1188=)
n.2357T>G
c.3486T>G (p.Ala1162=)
n.3549T>G
c.*1039T>G (n.*1039T>G)
n.4300T>G
c.*730T>G (n.*730T>G)
c.*1796T>G (n.*1796T>G)
n.4425T>G
c.2622T>G (p.Ala874=)
c.3381T>G (p.Ala1127=)
c.*3086T>G (n.*3086T>G)
n.3232T>G
c.*3164T>G (n.*3164T>G)
n.323T>G
c.3471T>G (p.Ala1157=)
c.3429T>G (p.Ala1143=)
c.3693T>G (p.Ala1231=)
c.3615T>G (p.Ala1205=)
c.3582T>G (p.Ala1194=)
c.3591T>G (p.Ala1197=)
c.2601T>G (p.Ala867=)
1g.154584923A>GCA421231460ADARc.3458T>C (n.3458T>C)
c.3594T>C (p.Ala1198=)
c.3447T>C (p.Ala1149=)
c.3216T>C (p.Ala1072=)
c.2679T>C (p.Ala893=)
c.3564T>C (p.Ala1188=)
n.2357T>C
c.3486T>C (p.Ala1162=)
n.3549T>C
c.*1039T>C (n.*1039T>C)
n.4300T>C
c.*730T>C (n.*730T>C)
c.*1796T>C (n.*1796T>C)
n.4425T>C
c.2622T>C (p.Ala874=)
c.3381T>C (p.Ala1127=)
c.*3086T>C (n.*3086T>C)
n.3232T>C
c.*3164T>C (n.*3164T>C)
n.323T>C
c.3471T>C (p.Ala1157=)
c.3429T>C (p.Ala1143=)
c.3693T>C (p.Ala1231=)
c.3615T>C (p.Ala1205=)
c.3582T>C (p.Ala1194=)
c.3591T>C (p.Ala1197=)
c.2601T>C (p.Ala867=)
 ClinVar
1g.154584923A>TCA421231461ADARc.3458T>A (n.3458T>A)
c.3594T>A (p.Ala1198=)
c.3447T>A (p.Ala1149=)
c.3216T>A (p.Ala1072=)
c.2679T>A (p.Ala893=)
c.3564T>A (p.Ala1188=)
n.2357T>A
c.3486T>A (p.Ala1162=)
n.3549T>A
c.*1039T>A (n.*1039T>A)
n.4300T>A
c.*730T>A (n.*730T>A)
c.*1796T>A (n.*1796T>A)
n.4425T>A
c.2622T>A (p.Ala874=)
c.3381T>A (p.Ala1127=)
c.*3086T>A (n.*3086T>A)
n.3232T>A
c.*3164T>A (n.*3164T>A)
n.323T>A
c.3471T>A (p.Ala1157=)
c.3429T>A (p.Ala1143=)
c.3693T>A (p.Ala1231=)
c.3615T>A (p.Ala1205=)
c.3582T>A (p.Ala1194=)
c.3591T>A (p.Ala1197=)
c.2601T>A (p.Ala867=)

Number of alleles fetched