NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
NM_199242.3(UNC13D):c.1389+1G>A
|
rs777759523
|
0.00006
|
NM_199242.3(UNC13D):c.2258_2259insA (p.His754fs)
|
rs1163596220
|
0.00003
|
NM_199242.3(UNC13D):c.753+1G>T
|
rs201908137
|
0.00003
|
NM_199242.3(UNC13D):c.322-2A>T
|
rs752651197
|
0.00002
|
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter)
|
rs754292065
|
0.00002
|
NM_199242.3(UNC13D):c.1055+1G>A
|
rs754205110
|
0.00001
|
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs)
|
rs747180228
|
0.00001
|
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)
|
rs750811263
|
0.00001
|
NM_199242.3(UNC13D):c.1596+1G>C
|
rs933702160
|
0.00001
|
NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter)
|
rs1426054272
|
0.00001
|
NM_199242.3(UNC13D):c.1727+1G>A
|
rs754882266
|
0.00001
|
NM_199242.3(UNC13D):c.2135_2137del (p.Ile712_Gly713delinsSer)
|
rs1402670923
|
0.00001
|
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter)
|
rs764507196
|
0.00001
|
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)
|
rs1157287613
|
0.00001
|
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)
|
rs769243366
|
0.00001
|
NM_199242.3(UNC13D):c.754-1G>C
|
rs753990040
|
0.00001
|
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter)
|
rs201589664
|
0.00001
|
NM_199242.3(UNC13D):c.859del (p.Arg287fs)
|
rs2064937140
|
0.00001
|
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)
|
rs747169857
|
0.00001
|
NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA (p.Gly753fs)
|
rs1567818219
|
|
NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)
|
|
|
NM_199242.3(UNC13D):c.1072dup (p.Ser358fs)
|
rs2143883327
|
|
NM_199242.3(UNC13D):c.118-307G>A
|
rs1019391145
|
|
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro)
|
rs121434353
|
|
NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter)
|
rs143184345
|
|
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)
|
|
|
NM_199242.3(UNC13D):c.1246_1258dup (p.Ser420fs)
|
|
|
NM_199242.3(UNC13D):c.1358del (p.Pro453fs)
|
|
|
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter)
|
rs2064908936
|
|
NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)
|
|
|
NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter)
|
rs1555601754
|
|
NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)
|
|
|
NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)
|
|
|
NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)
|
|
|
NM_199242.3(UNC13D):c.1545-2A>G
|
rs766615729
|
|
NM_199242.3(UNC13D):c.1596+1del
|
|
|
NM_199242.3(UNC13D):c.160del (p.Leu54fs)
|
|
|
NM_199242.3(UNC13D):c.1621_1622del (p.Thr541fs)
|
|
|
NM_199242.3(UNC13D):c.1650del (p.Glu551fs)
|
rs1442964152
|
|
NM_199242.3(UNC13D):c.1663_1664del (p.Leu556fs)
|
|
|
NM_199242.3(UNC13D):c.169_172del (p.Glu57fs)
|
|
|
NM_199242.3(UNC13D):c.170del (p.Glu57fs)
|
|
|
NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)
|
|
|
NM_199242.3(UNC13D):c.1754dup (p.His586fs)
|
rs796065026
|
|
NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)
|
|
|
NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter)
|
rs1567818774
|
|
NM_199242.3(UNC13D):c.177_178del (p.Tyr61fs)
|
rs1234936765
|
|
NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter)
|
rs1422897832
|
|
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)
|
rs755348845
|
|
NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)
|
|
|
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del)
|
rs796065024
|
|
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)
|
rs754621494
|
|
NM_199242.3(UNC13D):c.1947G>A (p.Trp649Ter)
|
rs868318523
|
|
NM_199242.3(UNC13D):c.1953_1959del (p.Asp651fs)
|
|
|
NM_199242.3(UNC13D):c.2037_2038insG (p.Arg680fs)
|
rs2143876026
|
|
NM_199242.3(UNC13D):c.203del (p.Gly68fs)
|
|
|
NM_199242.3(UNC13D):c.216del (p.Asn73fs)
|
rs796065025
|
|
NM_199242.3(UNC13D):c.2188del (p.Ala730fs)
|
|
|
NM_199242.3(UNC13D):c.2207del (p.Gln736fs)
|
|
|
NM_199242.3(UNC13D):c.2264_2265insCC (p.Glu755fs)
|
|
|
NM_199242.3(UNC13D):c.2267del (p.Ile756fs)
|
|
|
NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter)
|
rs763117746
|
|
NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)
|
|
|
NM_199242.3(UNC13D):c.2309del (p.Gly770fs)
|
|
|
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)
|
rs764196809
|
|
NM_199242.3(UNC13D):c.2381del (p.Leu794fs)
|
rs2064882892
|
|
NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)
|
|
|
NM_199242.3(UNC13D):c.2448-13G>A
|
rs753762300
|
|
NM_199242.3(UNC13D):c.2466del (p.Leu821_Trp822insTer)
|
|
|
NM_199242.3(UNC13D):c.2475_2476dup (p.Leu826fs)
|
|
|
NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs)
|
rs1446025324
|
|
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)
|
rs1274685768
|
|
NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)
|
|
|
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys)
|
rs121434354
|
|
NM_199242.3(UNC13D):c.3011_3014dup (p.Tyr1006fs)
|
rs1567816070
|
|
NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter)
|
rs775862197
|
|
NM_199242.3(UNC13D):c.3043del (p.Glu1015fs)
|
|
|
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
|
|
|
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
|
|
|
NM_199242.3(UNC13D):c.3061_3067del (p.Pro1021fs)
|
|
|
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)
|
rs1232542382
|
|
NM_199242.3(UNC13D):c.3183del (p.Lys1062fs)
|
|
|
NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)
|
|
|
NM_199242.3(UNC13D):c.3194del (p.Arg1065fs)
|
|
|
NM_199242.3(UNC13D):c.408_414del (p.Cys136fs)
|
rs2064957038
|
|
NM_199242.3(UNC13D):c.441del (p.Gly149fs)
|
|
|
NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter)
|
rs2064970978
|
|
NM_199242.3(UNC13D):c.532del (p.Gln178fs)
|
|
|
NM_199242.3(UNC13D):c.568del (p.Leu190fs)
|
|
|
NM_199242.3(UNC13D):c.570-2A>T
|
rs770325118
|
|
NM_199242.3(UNC13D):c.627del (p.Val210fs)
|
|
|
NM_199242.3(UNC13D):c.708del (p.Asp236fs)
|
|
|
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter)
|
rs2143893153
|
|
NM_199242.3(UNC13D):c.753+1G>A
|
|
|
NM_199242.3(UNC13D):c.755_756dup (p.Leu253fs)
|
|
|
NM_199242.3(UNC13D):c.762del (p.Cys255fs)
|
rs1381855537
|
|
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)
|
rs121434352
|
|
NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)
|
rs943094444
|
|
NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)
|
|
|
NM_199242.3(UNC13D):c.79dup (p.Arg27fs)
|
rs1244919509
|
|
NM_199242.3(UNC13D):c.82_83insCTCT (p.Asp28fs)
|
rs2143904721
|
|
NM_199242.3(UNC13D):c.865_877dup (p.Arg293fs)
|
rs2064936948
|
|
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)
|
rs2143892028
|
|
NM_199242.3(UNC13D):c.924del (p.Val309fs)
|
|
|
NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)
|
|
|
NM_199242.3(UNC13D):c.965_968delinsTTCATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATA (p.Ser322_Trp323delinsPheHisAlaTyrThrThrTer)
|
|
|
Single allele
|
|
|