NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)
|
rs75366116
|
0.01644
|
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe)
|
rs55661958
|
0.01066
|
NM_199242.3(UNC13D):c.*64C>T
|
rs113904350
|
0.00793
|
NM_199242.3(UNC13D):c.2298+15C>T
|
rs112341334
|
0.00741
|
NM_199242.3(UNC13D):c.2955-14G>C
|
rs138462345
|
0.00196
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)
|
rs144722609
|
0.00081
|
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=)
|
rs150861045
|
0.00070
|
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)
|
rs200109035
|
0.00067
|
NM_199242.3(UNC13D):c.1389+14G>A
|
rs113956688
|
0.00056
|
NM_199242.3(UNC13D):c.2368-5C>T
|
rs180768962
|
0.00045
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)
|
rs373551579
|
0.00034
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
NM_199242.3(UNC13D):c.1725G>A (p.Glu575=)
|
rs150521730
|
0.00028
|
NM_199242.3(UNC13D):c.1072A>G (p.Ser358Gly)
|
rs570657599
|
0.00027
|
NM_199242.3(UNC13D):c.1818G>A (p.Ala606=)
|
rs200621516
|
0.00022
|
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)
|
rs146611729
|
0.00019
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg)
|
rs142335129
|
0.00018
|
NM_199242.3(UNC13D):c.1212C>G (p.Thr404=)
|
rs201727463
|
0.00017
|
NM_199242.3(UNC13D):c.262-7C>T
|
rs368236546
|
0.00017
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
NM_199242.3(UNC13D):c.1038C>T (p.Asp346=)
|
rs143231110
|
0.00011
|
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)
|
rs564875531
|
0.00011
|
NM_199242.3(UNC13D):c.453C>T (p.Pro151=)
|
rs138997390
|
0.00011
|
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)
|
rs371924071
|
0.00010
|
NM_199242.3(UNC13D):c.1389+13C>T
|
rs371416823
|
0.00009
|
NM_199242.3(UNC13D):c.154-8T>A
|
rs369433391
|
0.00009
|
NM_199242.3(UNC13D):c.2553+12G>A
|
rs560520169
|
0.00009
|
NM_199242.3(UNC13D):c.999C>T (p.Thr333=)
|
rs138268544
|
0.00009
|
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)
|
rs372453702
|
0.00007
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
NM_199242.3(UNC13D):c.3152-4G>A
|
rs367571835
|
0.00007
|
NM_199242.3(UNC13D):c.1014C>T (p.His338=)
|
rs375097777
|
0.00006
|
NM_199242.3(UNC13D):c.1596+16G>A
|
rs554753744
|
0.00006
|
NM_199242.3(UNC13D):c.1728-10C>A
|
rs753356790
|
0.00006
|
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=)
|
rs367988204
|
0.00006
|
NM_199242.3(UNC13D):c.2358G>A (p.Leu786=)
|
rs532486218
|
0.00006
|
NM_199242.3(UNC13D):c.2448-7G>A
|
rs537787945
|
0.00006
|
NM_199242.3(UNC13D):c.2517A>C (p.Ser839=)
|
rs147532673
|
0.00006
|
NM_199242.3(UNC13D):c.2955-8C>T
|
rs765196017
|
0.00006
|
NM_199242.3(UNC13D):c.3036C>T (p.Asp1012=)
|
rs201238621
|
0.00006
|
NM_199242.3(UNC13D):c.3075G>C (p.Val1025=)
|
rs750974136
|
0.00006
|
NM_199242.3(UNC13D):c.3152-17A>G
|
rs756249085
|
0.00006
|
NM_199242.3(UNC13D):c.684-5C>T
|
rs374984588
|
0.00006
|
NM_199242.3(UNC13D):c.859-4G>A
|
rs373239557
|
0.00006
|
NM_199242.3(UNC13D):c.1134C>T (p.Ile378=)
|
rs751624266
|
0.00005
|
NM_199242.3(UNC13D):c.117+9G>C
|
rs1009838525
|
0.00005
|
NM_199242.3(UNC13D):c.3018C>T (p.Tyr1006=)
|
rs775862197
|
0.00005
|
NM_199242.3(UNC13D):c.3030G>A (p.Gly1010=)
|
rs767150175
|
0.00005
|
NM_199242.3(UNC13D):c.118-9G>C
|
rs527842266
|
0.00004
|
NM_199242.3(UNC13D):c.154-13C>A
|
rs908049021
|
0.00004
|
NM_199242.3(UNC13D):c.1849-7C>T
|
rs753980375
|
0.00004
|
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)
|
rs376137910
|
0.00004
|
NM_199242.3(UNC13D):c.2223G>A (p.Leu741=)
|
rs768037542
|
0.00004
|
NM_199242.3(UNC13D):c.2250C>T (p.Ala750=)
|
rs146737486
|
0.00004
|
NM_199242.3(UNC13D):c.2298+11C>T
|
rs770114072
|
0.00004
|
NM_199242.3(UNC13D):c.2340C>T (p.Gly780=)
|
rs556654678
|
0.00004
|
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)
|
rs763343306
|
0.00004
|
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)
|
rs140599939
|
0.00004
|
NM_199242.3(UNC13D):c.3081G>C (p.Gly1027=)
|
rs761028266
|
0.00004
|
NM_199242.3(UNC13D):c.519G>A (p.Thr173=)
|
rs370278536
|
0.00004
|
NM_199242.3(UNC13D):c.663G>A (p.Thr221=)
|
rs771266801
|
0.00004
|
NM_199242.3(UNC13D):c.754-9G>A
|
rs765308578
|
0.00004
|
NM_199242.3(UNC13D):c.1447-8C>G
|
rs760322200
|
0.00003
|
NM_199242.3(UNC13D):c.1500C>T (p.Gly500=)
|
rs199672701
|
0.00003
|
NM_199242.3(UNC13D):c.1515C>T (p.Cys505=)
|
rs139327831
|
0.00003
|
NM_199242.3(UNC13D):c.1830C>T (p.Arg610=)
|
rs572194095
|
0.00003
|
NM_199242.3(UNC13D):c.2448-8C>T
|
rs764073748
|
0.00003
|
NM_199242.3(UNC13D):c.3051G>A (p.Glu1017=)
|
rs368211297
|
0.00003
|
NM_199242.3(UNC13D):c.3264G>A (p.Pro1088=)
|
rs755126817
|
0.00003
|
NM_199242.3(UNC13D):c.579G>A (p.Glu193=)
|
rs201806234
|
0.00003
|
NM_199242.3(UNC13D):c.754-10C>T
|
rs183508320
|
0.00003
|
NM_199242.3(UNC13D):c.859-10C>T
|
rs774669801
|
0.00003
|
NM_199242.3(UNC13D):c.1032A>G (p.Leu344=)
|
rs779488594
|
0.00002
|
NM_199242.3(UNC13D):c.1056-8C>T
|
rs766550767
|
0.00002
|
NM_199242.3(UNC13D):c.1083C>T (p.Tyr361=)
|
rs745408274
|
0.00002
|
NM_199242.3(UNC13D):c.1218C>G (p.Gly406=)
|
rs766381273
|
0.00002
|
NM_199242.3(UNC13D):c.1782C>G (p.Pro594=)
|
rs772047605
|
0.00002
|
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)
|
rs753021453
|
0.00002
|
NM_199242.3(UNC13D):c.2193G>C (p.Val731=)
|
rs1001766122
|
0.00002
|
NM_199242.3(UNC13D):c.261+9G>A
|
rs754902598
|
0.00002
|
NM_199242.3(UNC13D):c.3006C>T (p.Thr1002=)
|
rs773217124
|
0.00002
|
NM_199242.3(UNC13D):c.555C>T (p.Asp185=)
|
rs756118878
|
0.00002
|
NM_199242.3(UNC13D):c.735C>T (p.Asn245=)
|
rs756659696
|
0.00002
|
NM_199242.3(UNC13D):c.754-8C>T
|
rs201406035
|
0.00002
|
NM_199242.3(UNC13D):c.859-13G>C
|
rs989852597
|
0.00002
|
NM_199242.3(UNC13D):c.933C>T (p.His311=)
|
rs149650660
|
0.00002
|
NM_199242.3(UNC13D):c.1298+16C>T
|
rs1003328910
|
0.00001
|
NM_199242.3(UNC13D):c.1390-6C>T
|
rs376631424
|
0.00001
|
NM_199242.3(UNC13D):c.1395C>T (p.Gly465=)
|
rs1382625659
|
0.00001
|
NM_199242.3(UNC13D):c.1413C>T (p.His471=)
|
rs777622002
|
0.00001
|
NM_199242.3(UNC13D):c.1425G>A (p.Gln475=)
|
rs780636406
|
0.00001
|
NM_199242.3(UNC13D):c.154-12C>T
|
rs201566360
|
0.00001
|
NM_199242.3(UNC13D):c.1544+19C>T
|
rs752742945
|
0.00001
|
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)
|
rs111728477
|
0.00001
|
NM_199242.3(UNC13D):c.1587G>A (p.Leu529=)
|
rs759125122
|
0.00001
|
NM_199242.3(UNC13D):c.1597-6T>A
|
rs1456749981
|
0.00001
|
NM_199242.3(UNC13D):c.15C>T (p.Leu5=)
|
rs751997671
|
0.00001
|
NM_199242.3(UNC13D):c.1623G>C (p.Thr541=)
|
rs977499810
|
0.00001
|
NM_199242.3(UNC13D):c.1659C>T (p.Gly553=)
|
rs374031487
|
0.00001
|
NM_199242.3(UNC13D):c.1719C>T (p.Ser573=)
|
rs749404402
|
0.00001
|
NM_199242.3(UNC13D):c.1728-12G>A
|
rs546379598
|
0.00001
|
NM_199242.3(UNC13D):c.1848+8C>T
|
rs1450744252
|
0.00001
|
NM_199242.3(UNC13D):c.1992+19G>A
|
rs1267327666
|
0.00001
|
NM_199242.3(UNC13D):c.2092-9C>T
|
rs1471072700
|
0.00001
|
NM_199242.3(UNC13D):c.2148C>T (p.Pro716=)
|
rs1431407116
|
0.00001
|
NM_199242.3(UNC13D):c.2220G>A (p.Thr740=)
|
rs758676065
|
0.00001
|
NM_199242.3(UNC13D):c.2262T>C (p.His754=)
|
rs753556309
|
0.00001
|
NM_199242.3(UNC13D):c.2299-15G>T
|
rs765565016
|
0.00001
|
NM_199242.3(UNC13D):c.231G>A (p.Glu77=)
|
rs148672333
|
0.00001
|
NM_199242.3(UNC13D):c.2331A>G (p.Lys777=)
|
rs1200766691
|
0.00001
|
NM_199242.3(UNC13D):c.2367+10C>T
|
rs750548560
|
0.00001
|
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)
|
rs747428323
|
0.00001
|
NM_199242.3(UNC13D):c.2421C>T (p.Thr807=)
|
rs1333852596
|
0.00001
|
NM_199242.3(UNC13D):c.2448-14C>T
|
rs757075933
|
0.00001
|
NM_199242.3(UNC13D):c.2556C>T (p.Asn852=)
|
rs564380873
|
0.00001
|
NM_199242.3(UNC13D):c.2574C>T (p.His858=)
|
rs17496835
|
0.00001
|
NM_199242.3(UNC13D):c.258G>A (p.Gln86=)
|
rs757537508
|
0.00001
|
NM_199242.3(UNC13D):c.262-18C>T
|
rs374868516
|
0.00001
|
NM_199242.3(UNC13D):c.262-20C>G
|
rs368003349
|
0.00001
|
NM_199242.3(UNC13D):c.2625+8del
|
rs1234318763
|
0.00001
|
NM_199242.3(UNC13D):c.2955-18C>A
|
rs758204874
|
0.00001
|
NM_199242.3(UNC13D):c.2955-4G>A
|
rs760466426
|
0.00001
|
NM_199242.3(UNC13D):c.2955-5C>T
|
rs201791093
|
0.00001
|
NM_199242.3(UNC13D):c.2958G>A (p.Leu986=)
|
rs1276293925
|
0.00001
|
NM_199242.3(UNC13D):c.3084G>C (p.Leu1028=)
|
rs368577676
|
0.00001
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
NM_199242.3(UNC13D):c.3152-5C>T
|
rs564198879
|
0.00001
|
NM_199242.3(UNC13D):c.322-8C>T
|
rs769142756
|
0.00001
|
NM_199242.3(UNC13D):c.498C>T (p.Pro166=)
|
rs201410236
|
0.00001
|
NM_199242.3(UNC13D):c.569+11G>A
|
rs746068656
|
0.00001
|
NM_199242.3(UNC13D):c.569+9C>T
|
rs761672422
|
0.00001
|
NM_199242.3(UNC13D):c.594G>A (p.Ala198=)
|
rs755967157
|
0.00001
|
NM_199242.3(UNC13D):c.614+10C>T
|
rs766943969
|
0.00001
|
NM_199242.3(UNC13D):c.615-4C>T
|
rs368252536
|
0.00001
|
NM_199242.3(UNC13D):c.627T>C (p.Thr209=)
|
rs764862990
|
0.00001
|
NM_199242.3(UNC13D):c.683+7G>A
|
rs200456374
|
0.00001
|
NM_199242.3(UNC13D):c.6G>A (p.Ala2=)
|
rs767266346
|
0.00001
|
NM_199242.3(UNC13D):c.754-17G>A
|
rs780473660
|
0.00001
|
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)
|
rs558726483
|
0.00001
|
NM_199242.3(UNC13D):c.801T>G (p.Thr267=)
|
rs780425175
|
0.00001
|
NM_199242.3(UNC13D):c.882G>A (p.Ser294=)
|
rs760286447
|
0.00001
|
NM_199242.3(UNC13D):c.918G>A (p.Gln306=)
|
rs768944993
|
0.00001
|
NM_199242.3(UNC13D):c.978G>A (p.Ser326=)
|
rs533811160
|
0.00001
|
NM_199242.3(UNC13D):c.9A>T (p.Thr3=)
|
rs376902386
|
0.00001
|
NM_199242.3(UNC13D):c.1002C>T (p.Val334=)
|
|
|
NM_199242.3(UNC13D):c.1008T>C (p.Phe336=)
|
rs746042735
|
|
NM_199242.3(UNC13D):c.1017C>G (p.Ala339=)
|
|
|
NM_199242.3(UNC13D):c.102C>A (p.Pro34=)
|
|
|
NM_199242.3(UNC13D):c.102C>T (p.Pro34=)
|
|
|
NM_199242.3(UNC13D):c.1030C>T (p.Leu344=)
|
|
|
NM_199242.3(UNC13D):c.1035C>G (p.Ser345=)
|
|
|
NM_199242.3(UNC13D):c.1035C>T (p.Ser345=)
|
|
|
NM_199242.3(UNC13D):c.1044C>T (p.His348=)
|
rs2143891267
|
|
NM_199242.3(UNC13D):c.1055+13C>G
|
|
|
NM_199242.3(UNC13D):c.1055+17G>T
|
rs1156884456
|
|
NM_199242.3(UNC13D):c.1056-13C>A
|
|
|
NM_199242.3(UNC13D):c.1056-14C>T
|
|
|
NM_199242.3(UNC13D):c.1056-9C>T
|
|
|
NM_199242.3(UNC13D):c.105A>G (p.Gln35=)
|
|
|
NM_199242.3(UNC13D):c.1065G>T (p.Leu355=)
|
|
|
NM_199242.3(UNC13D):c.1071C>T (p.Tyr357=)
|
|
|
NM_199242.3(UNC13D):c.1077C>T (p.Arg359=)
|
|
|
NM_199242.3(UNC13D):c.1092G>A (p.Leu364=)
|
|
|
NM_199242.3(UNC13D):c.1110C>T (p.Cys370=)
|
|
|
NM_199242.3(UNC13D):c.1116G>A (p.Leu372=)
|
|
|
NM_199242.3(UNC13D):c.111C>T (p.Ala37=)
|
|
|
NM_199242.3(UNC13D):c.1137G>A (p.Glu379=)
|
|
|
NM_199242.3(UNC13D):c.1167A>C (p.Ala389=)
|
rs2143883000
|
|
NM_199242.3(UNC13D):c.1167A>G (p.Ala389=)
|
|
|
NM_199242.3(UNC13D):c.117+17T>C
|
|
|
NM_199242.3(UNC13D):c.117+18G>A
|
|
|
NM_199242.3(UNC13D):c.117+4_117+7dup
|
rs1332124785
|
|
NM_199242.3(UNC13D):c.1173+10C>G
|
rs376856418
|
|
NM_199242.3(UNC13D):c.1173+11A>G
|
|
|
NM_199242.3(UNC13D):c.1173+14G>A
|
|
|
NM_199242.3(UNC13D):c.1173+16C>T
|
|
|
NM_199242.3(UNC13D):c.1173+17A>G
|
|
|
NM_199242.3(UNC13D):c.1173+9G>A
|
|
|
NM_199242.3(UNC13D):c.1174-15del
|
|
|
NM_199242.3(UNC13D):c.1174-9G>A
|
|
|
NM_199242.3(UNC13D):c.1179G>A (p.Glu393=)
|
|
|
NM_199242.3(UNC13D):c.118-14A>G
|
|
|
NM_199242.3(UNC13D):c.118-15C>T
|
|
|
NM_199242.3(UNC13D):c.118-19T>G
|
|
|
NM_199242.3(UNC13D):c.118-4G>T
|
|
|
NM_199242.3(UNC13D):c.118-6C>T
|
|
|
NM_199242.3(UNC13D):c.1188C>T (p.Ala396=)
|
|
|
NM_199242.3(UNC13D):c.1191C>T (p.Ala397=)
|
|
|
NM_199242.3(UNC13D):c.1194A>C (p.Ser398=)
|
|
|
NM_199242.3(UNC13D):c.1194A>G (p.Ser398=)
|
|
|
NM_199242.3(UNC13D):c.1203C>A (p.Ser401=)
|
|
|
NM_199242.3(UNC13D):c.1236G>A (p.Arg412=)
|
|
|
NM_199242.3(UNC13D):c.1239C>T (p.Phe413=)
|
|
|
NM_199242.3(UNC13D):c.1242C>A (p.Arg414=)
|
|
|
NM_199242.3(UNC13D):c.1242C>T (p.Arg414=)
|
|
|
NM_199242.3(UNC13D):c.1251C>T (p.Phe417=)
|
|
|
NM_199242.3(UNC13D):c.1254C>G (p.Pro418=)
|
|
|
NM_199242.3(UNC13D):c.1254C>T (p.Pro418=)
|
|
|
NM_199242.3(UNC13D):c.1266G>A (p.Ser422=)
|
rs749317896
|
|
NM_199242.3(UNC13D):c.1275A>C (p.Pro425=)
|
|
|
NM_199242.3(UNC13D):c.1284G>A (p.Leu428=)
|
|
|
NM_199242.3(UNC13D):c.1296C>T (p.Leu432=)
|
|
|
NM_199242.3(UNC13D):c.1298+13C>T
|
|
|
NM_199242.3(UNC13D):c.1298+19C>T
|
|
|
NM_199242.3(UNC13D):c.1299-15C>G
|
|
|
NM_199242.3(UNC13D):c.1299-15_1299-14del
|
|
|
NM_199242.3(UNC13D):c.1299-17C>G
|
|
|
NM_199242.3(UNC13D):c.1299-4G>T
|
|
|
NM_199242.3(UNC13D):c.1299-7C>T
|
|
|
NM_199242.3(UNC13D):c.1299-8T>C
|
|
|
NM_199242.3(UNC13D):c.1299-9A>G
|
|
|
NM_199242.3(UNC13D):c.1332T>C (p.Phe444=)
|
|
|
NM_199242.3(UNC13D):c.1338A>G (p.Glu446=)
|
|
|
NM_199242.3(UNC13D):c.1353C>T (p.Thr451=)
|
|
|
NM_199242.3(UNC13D):c.1380G>A (p.Glu460=)
|
|
|
NM_199242.3(UNC13D):c.1383C>T (p.Ala461=)
|
|
|
NM_199242.3(UNC13D):c.1389+11C>T
|
|
|
NM_199242.3(UNC13D):c.1389+16T>A
|
|
|
NM_199242.3(UNC13D):c.1389+16T>C
|
|
|
NM_199242.3(UNC13D):c.1389+18G>A
|
rs2143881408
|
|
NM_199242.3(UNC13D):c.1390-11T>G
|
|
|
NM_199242.3(UNC13D):c.1390-14C>T
|
|
|
NM_199242.3(UNC13D):c.1390-19A>G
|
|
|
NM_199242.3(UNC13D):c.1390-20C>T
|
|
|
NM_199242.3(UNC13D):c.1390-5G>A
|
|
|
NM_199242.3(UNC13D):c.1390-6C>G
|
|
|
NM_199242.3(UNC13D):c.1398C>T (p.Thr466=)
|
|
|
NM_199242.3(UNC13D):c.1414C>T (p.Leu472=)
|
rs151134723
|
|
NM_199242.3(UNC13D):c.1428C>T (p.His476=)
|
|
|
NM_199242.3(UNC13D):c.1437C>A (p.Pro479=)
|
|
|
NM_199242.3(UNC13D):c.1443G>A (p.Val481=)
|
|
|
NM_199242.3(UNC13D):c.1446+11G>T
|
|
|
NM_199242.3(UNC13D):c.1446+14C>T
|
|
|
NM_199242.3(UNC13D):c.1446+18G>A
|
|
|
NM_199242.3(UNC13D):c.1446+20G>A
|
|
|
NM_199242.3(UNC13D):c.1447-10G>A
|
|
|
NM_199242.3(UNC13D):c.1447-17C>A
|
|
|
NM_199242.3(UNC13D):c.1447-4G>A
|
|
|
NM_199242.3(UNC13D):c.1447-4G>T
|
|
|
NM_199242.3(UNC13D):c.1447-6C>T
|
|
|
NM_199242.3(UNC13D):c.1449C>A (p.Gly483=)
|
|
|
NM_199242.3(UNC13D):c.1452C>A (p.Ile484=)
|
|
|
NM_199242.3(UNC13D):c.1455G>A (p.Pro485=)
|
|
|
NM_199242.3(UNC13D):c.1458G>A (p.Glu486=)
|
|
|
NM_199242.3(UNC13D):c.1474C>T (p.Leu492=)
|
rs1459099488
|
|
NM_199242.3(UNC13D):c.147C>G (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.147C>T (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.1482G>C (p.Leu494=)
|
|
|
NM_199242.3(UNC13D):c.150G>A (p.Glu50=)
|
|
|
NM_199242.3(UNC13D):c.1521C>T (p.Arg507=)
|
|
|
NM_199242.3(UNC13D):c.1524A>G (p.Thr508=)
|
rs998868036
|
|
NM_199242.3(UNC13D):c.153+10dup
|
|
|
NM_199242.3(UNC13D):c.153+14_153+28del
|
rs2064964147
|
|
NM_199242.3(UNC13D):c.153+17T>C
|
|
|
NM_199242.3(UNC13D):c.153+20G>C
|
|
|
NM_199242.3(UNC13D):c.153+8_153+11del
|
|
|
NM_199242.3(UNC13D):c.1539C>T (p.Phe513=)
|
|
|
NM_199242.3(UNC13D):c.154-10T>C
|
|
|
NM_199242.3(UNC13D):c.154-11G>A
|
|
|
NM_199242.3(UNC13D):c.154-11G>C
|
|
|
NM_199242.3(UNC13D):c.154-17G>T
|
|
|
NM_199242.3(UNC13D):c.154-9G>A
|
rs2064962405
|
|
NM_199242.3(UNC13D):c.1542C>T (p.His514=)
|
|
|
NM_199242.3(UNC13D):c.1544+10T>C
|
|
|
NM_199242.3(UNC13D):c.1544+20G>C
|
|
|
NM_199242.3(UNC13D):c.1545-10T>C
|
|
|
NM_199242.3(UNC13D):c.1545-12C>G
|
|
|
NM_199242.3(UNC13D):c.1545-13G>C
|
|
|
NM_199242.3(UNC13D):c.1545-15C>T
|
|
|
NM_199242.3(UNC13D):c.1545-19C>A
|
|
|
NM_199242.3(UNC13D):c.1545-19C>G
|
|
|
NM_199242.3(UNC13D):c.1545-4C>A
|
rs2143880120
|
|
NM_199242.3(UNC13D):c.1545-4C>T
|
|
|
NM_199242.3(UNC13D):c.1545-8T>C
|
|
|
NM_199242.3(UNC13D):c.1548C>G (p.Thr516=)
|
|
|
NM_199242.3(UNC13D):c.1548C>T (p.Thr516=)
|
|
|
NM_199242.3(UNC13D):c.1563C>T (p.Leu521=)
|
|
|
NM_199242.3(UNC13D):c.1566C>T (p.Phe522=)
|
|
|
NM_199242.3(UNC13D):c.1575T>C (p.Ala525=)
|
|
|
NM_199242.3(UNC13D):c.1590G>A (p.Gln530=)
|
|
|
NM_199242.3(UNC13D):c.1596+11C>A
|
rs543412754
|
|
NM_199242.3(UNC13D):c.1596+11C>G
|
|
|
NM_199242.3(UNC13D):c.1596+12C>T
|
|
|
NM_199242.3(UNC13D):c.1596+13C>T
|
|
|
NM_199242.3(UNC13D):c.1596+13_1596+15del
|
|
|
NM_199242.3(UNC13D):c.1596+15C>G
|
rs574478720
|
|
NM_199242.3(UNC13D):c.1596+15C>T
|
|
|
NM_199242.3(UNC13D):c.1596+18C>T
|
|
|
NM_199242.3(UNC13D):c.1596+9del
|
|
|
NM_199242.3(UNC13D):c.1597-10T>A
|
|
|
NM_199242.3(UNC13D):c.1597-13C>T
|
|
|
NM_199242.3(UNC13D):c.1597-17A>G
|
|
|
NM_199242.3(UNC13D):c.1599G>A (p.Val533=)
|
|
|
NM_199242.3(UNC13D):c.1606C>A (p.Arg536=)
|
|
|
NM_199242.3(UNC13D):c.1629T>C (p.Val543=)
|
rs2143879473
|
|
NM_199242.3(UNC13D):c.1644G>A (p.Val548=)
|
|
|
NM_199242.3(UNC13D):c.1668G>A (p.Leu556=)
|
|
|
NM_199242.3(UNC13D):c.168C>T (p.Tyr56=)
|
|
|
NM_199242.3(UNC13D):c.1722A>G (p.Ser574=)
|
|
|
NM_199242.3(UNC13D):c.1727+16A>G
|
|
|
NM_199242.3(UNC13D):c.1727+17T>C
|
|
|
NM_199242.3(UNC13D):c.1727+20T>C
|
|
|
NM_199242.3(UNC13D):c.1728-12G>C
|
|
|
NM_199242.3(UNC13D):c.1728-13C>G
|
|
|
NM_199242.3(UNC13D):c.1728-15C>A
|
|
|
NM_199242.3(UNC13D):c.1728-4C>T
|
|
|
NM_199242.3(UNC13D):c.1728-5C>T
|
|
|
NM_199242.3(UNC13D):c.174C>T (p.Asp58=)
|
|
|
NM_199242.3(UNC13D):c.1758C>T (p.His586=)
|
rs759891490
|
|
NM_199242.3(UNC13D):c.1773G>A (p.Pro591=)
|
rs367988204
|
|
NM_199242.3(UNC13D):c.1779C>T (p.Ile593=)
|
|
|
NM_199242.3(UNC13D):c.1782C>A (p.Pro594=)
|
|
|
NM_199242.3(UNC13D):c.1791G>A (p.Leu597=)
|
|
|
NM_199242.3(UNC13D):c.1800G>A (p.Thr600=)
|
|
|
NM_199242.3(UNC13D):c.1806C>T (p.Asn602=)
|
|
|
NM_199242.3(UNC13D):c.180C>G (p.Leu60=)
|
|
|
NM_199242.3(UNC13D):c.1818G>T (p.Ala606=)
|
|
|
NM_199242.3(UNC13D):c.1821G>C (p.Arg607=)
|
|
|
NM_199242.3(UNC13D):c.1830C>A (p.Arg610=)
|
|
|
NM_199242.3(UNC13D):c.1833T>A (p.Ala611=)
|
|
|
NM_199242.3(UNC13D):c.183C>T (p.Tyr61=)
|
|
|
NM_199242.3(UNC13D):c.1848+12G>A
|
|
|
NM_199242.3(UNC13D):c.1848+12G>T
|
rs1007029165
|
|
NM_199242.3(UNC13D):c.1848+13C>G
|
|
|
NM_199242.3(UNC13D):c.1848+14C>T
|
|
|
NM_199242.3(UNC13D):c.1848+14_1848+19del
|
|
|
NM_199242.3(UNC13D):c.1848+17G>C
|
|
|
NM_199242.3(UNC13D):c.1848+18G>A
|
|
|
NM_199242.3(UNC13D):c.1848+9G>A
|
|
|
NM_199242.3(UNC13D):c.1848+9G>T
|
|
|
NM_199242.3(UNC13D):c.1849-14C>T
|
|
|
NM_199242.3(UNC13D):c.1849-14del
|
|
|
NM_199242.3(UNC13D):c.1849-15C>T
|
|
|
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=)
|
rs2143877155
|
|
NM_199242.3(UNC13D):c.1858C>T (p.Leu620=)
|
rs2143877150
|
|
NM_199242.3(UNC13D):c.1860G>A (p.Leu620=)
|
rs1202634265
|
|
NM_199242.3(UNC13D):c.1872C>G (p.Thr624=)
|
|
|
NM_199242.3(UNC13D):c.1872C>T (p.Thr624=)
|
|
|
NM_199242.3(UNC13D):c.1875G>A (p.Lys625=)
|
|
|
NM_199242.3(UNC13D):c.1878C>T (p.His626=)
|
|
|
NM_199242.3(UNC13D):c.1884A>G (p.Thr628=)
|
|
|
NM_199242.3(UNC13D):c.1890G>C (p.Ala630=)
|
rs753021453
|
|
NM_199242.3(UNC13D):c.1902C>T (p.Ser634=)
|
|
|
NM_199242.3(UNC13D):c.1959G>A (p.Glu653=)
|
|
|
NM_199242.3(UNC13D):c.1986T>C (p.Phe662=)
|
|
|
NM_199242.3(UNC13D):c.1992+13C>T
|
|
|
NM_199242.3(UNC13D):c.1992+16C>T
|
|
|
NM_199242.3(UNC13D):c.1992+17G>A
|
|
|
NM_199242.3(UNC13D):c.1992+8A>G
|
|
|
NM_199242.3(UNC13D):c.1993-11C>T
|
|
|
NM_199242.3(UNC13D):c.1993-14C>T
|
|
|
NM_199242.3(UNC13D):c.1993-15C>G
|
|
|
NM_199242.3(UNC13D):c.1993-4C>T
|
|
|
NM_199242.3(UNC13D):c.1993-6C>T
|
|
|
NM_199242.3(UNC13D):c.1993-8C>T
|
rs2143876230
|
|
NM_199242.3(UNC13D):c.1995C>T (p.Asp665=)
|
|
|
NM_199242.3(UNC13D):c.1998C>A (p.Thr666=)
|
|
|
NM_199242.3(UNC13D):c.199C>T (p.Leu67=)
|
|
|
NM_199242.3(UNC13D):c.2013G>C (p.Leu671=)
|
|
|
NM_199242.3(UNC13D):c.2022C>T (p.Cys674=)
|
|
|
NM_199242.3(UNC13D):c.2046C>A (p.Arg682=)
|
|
|
NM_199242.3(UNC13D):c.2046C>T (p.Arg682=)
|
rs139837456
|
|
NM_199242.3(UNC13D):c.2049G>A (p.Glu683=)
|
|
|
NM_199242.3(UNC13D):c.2085C>T (p.Ala695=)
|
|
|
NM_199242.3(UNC13D):c.2091+12G>T
|
rs2143875813
|
|
NM_199242.3(UNC13D):c.2091+7C>G
|
|
|
NM_199242.3(UNC13D):c.2091+8C>T
|
|
|
NM_199242.3(UNC13D):c.2092-7G>A
|
rs2143875673
|
|
NM_199242.3(UNC13D):c.2092-7G>C
|
rs2143875673
|
|
NM_199242.3(UNC13D):c.2094G>C (p.Leu698=)
|
rs1180742786
|
|
NM_199242.3(UNC13D):c.2106G>A (p.Val702=)
|
|
|
NM_199242.3(UNC13D):c.2118G>A (p.Glu706=)
|
|
|
NM_199242.3(UNC13D):c.2125C>A (p.Arg709=)
|
|
|
NM_199242.3(UNC13D):c.2128C>T (p.Leu710=)
|
rs2143875531
|
|
NM_199242.3(UNC13D):c.2133G>A (p.Val711=)
|
|
|
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met)
|
rs112245411
|
|
NM_199242.3(UNC13D):c.2136C>T (p.Ile712=)
|
rs112245411
|
|
NM_199242.3(UNC13D):c.2160A>T (p.Ala720=)
|
|
|
NM_199242.3(UNC13D):c.2166G>A (p.Glu722=)
|
|
|
NM_199242.3(UNC13D):c.2184A>G (p.Val728=)
|
|
|
NM_199242.3(UNC13D):c.2190C>T (p.Ala730=)
|
|
|
NM_199242.3(UNC13D):c.2214G>A (p.Gln738=)
|
|
|
NM_199242.3(UNC13D):c.2226T>C (p.His742=)
|
|
|
NM_199242.3(UNC13D):c.2229C>T (p.Ala743=)
|
rs1599406871
|
|
NM_199242.3(UNC13D):c.222T>C (p.His74=)
|
|
|
NM_199242.3(UNC13D):c.2244G>A (p.Ala748=)
|
|
|
NM_199242.3(UNC13D):c.2250C>G (p.Ala750=)
|
rs146737486
|
|
NM_199242.3(UNC13D):c.2253G>A (p.Gly751=)
|
rs1240535601
|
|
NM_199242.3(UNC13D):c.2253G>T (p.Gly751=)
|
|
|
NM_199242.3(UNC13D):c.2256G>A (p.Leu752=)
|
|
|
NM_199242.3(UNC13D):c.2256G>T (p.Leu752=)
|
rs2143874976
|
|
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)
|
rs1354115593
|
|
NM_199242.3(UNC13D):c.2259C>T (p.Gly753=)
|
|
|
NM_199242.3(UNC13D):c.2271C>T (p.Arg757=)
|
|
|
NM_199242.3(UNC13D):c.228G>A (p.Thr76=)
|
rs747513643
|
|
NM_199242.3(UNC13D):c.228G>C (p.Thr76=)
|
|
|
NM_199242.3(UNC13D):c.2292C>T (p.Ala764=)
|
|
|
NM_199242.3(UNC13D):c.2295G>A (p.Glu765=)
|
|
|
NM_199242.3(UNC13D):c.2298+12G>A
|
|
|
NM_199242.3(UNC13D):c.2298+14C>T
|
|
|
NM_199242.3(UNC13D):c.2298+16G>A
|
|
|
NM_199242.3(UNC13D):c.2298+16G>C
|
|
|
NM_199242.3(UNC13D):c.2298+18A>C
|
|
|
NM_199242.3(UNC13D):c.2298+18A>G
|
|
|
NM_199242.3(UNC13D):c.2298+19C>T
|
|
|
NM_199242.3(UNC13D):c.2298+19_2298+20del
|
rs2143874512
|
|
NM_199242.3(UNC13D):c.2298+20A>G
|
|
|
NM_199242.3(UNC13D):c.2299-15G>A
|
rs765565016
|
|
NM_199242.3(UNC13D):c.2299-16C>T
|
|
|
NM_199242.3(UNC13D):c.2299-19_2299-17del
|
|
|
NM_199242.3(UNC13D):c.2299-8_2299-7del
|
|
|
NM_199242.3(UNC13D):c.2313C>T (p.Ile771=)
|
|
|
NM_199242.3(UNC13D):c.2334G>A (p.Leu778=)
|
|
|
NM_199242.3(UNC13D):c.2337G>A (p.Val779=)
|
rs2143873738
|
|
NM_199242.3(UNC13D):c.2356C>T (p.Leu786=)
|
|
|
NM_199242.3(UNC13D):c.2358G>T (p.Leu786=)
|
|
|
NM_199242.3(UNC13D):c.2367+16G>T
|
rs1049703211
|
|
NM_199242.3(UNC13D):c.2367+17C>T
|
|
|
NM_199242.3(UNC13D):c.2367+8G>T
|
|
|
NM_199242.3(UNC13D):c.2368-15C>T
|
|
|
NM_199242.3(UNC13D):c.2368-18C>G
|
|
|
NM_199242.3(UNC13D):c.2368-19_2368-18delinsCT
|
|
|
NM_199242.3(UNC13D):c.2368-6C>G
|
|
|
NM_199242.3(UNC13D):c.2368-6C>T
|
rs776391631
|
|
NM_199242.3(UNC13D):c.237T>C (p.Ser79=)
|
|
|
NM_199242.3(UNC13D):c.2380C>T (p.Leu794=)
|
rs1166719662
|
|
NM_199242.3(UNC13D):c.2392C>T (p.Leu798=)
|
|
|
NM_199242.3(UNC13D):c.2403G>A (p.Glu801=)
|
|
|
NM_199242.3(UNC13D):c.240G>A (p.Glu80=)
|
|
|
NM_199242.3(UNC13D):c.2425T>C (p.Leu809=)
|
|
|
NM_199242.3(UNC13D):c.2427G>A (p.Leu809=)
|
|
|
NM_199242.3(UNC13D):c.2430G>A (p.Val810=)
|
|
|
NM_199242.3(UNC13D):c.2430G>T (p.Val810=)
|
|
|
NM_199242.3(UNC13D):c.2447+14C>T
|
|
|
NM_199242.3(UNC13D):c.2447+19C>A
|
|
|
NM_199242.3(UNC13D):c.2448-13G>C
|
|
|
NM_199242.3(UNC13D):c.2448-17C>G
|
|
|
NM_199242.3(UNC13D):c.2448-18C>T
|
|
|
NM_199242.3(UNC13D):c.2448-5C>A
|
|
|
NM_199242.3(UNC13D):c.2448-6C>T
|
|
|
NM_199242.3(UNC13D):c.2448-7G>C
|
rs537787945
|
|
NM_199242.3(UNC13D):c.2448-7_2448-6insA
|
rs771513070
|
|
NM_199242.3(UNC13D):c.2448-8_2448-7insT
|
|
|
NM_199242.3(UNC13D):c.2451C>T (p.Leu817=)
|
|
|
NM_199242.3(UNC13D):c.2457C>G (p.Thr819=)
|
|
|
NM_199242.3(UNC13D):c.2457C>T (p.Thr819=)
|
|
|
NM_199242.3(UNC13D):c.2472C>T (p.His824=)
|
|
|
NM_199242.3(UNC13D):c.2496G>T (p.Ala832=)
|
|
|
NM_199242.3(UNC13D):c.2502C>T (p.Ala834=)
|
|
|
NM_199242.3(UNC13D):c.2517A>T (p.Ser839=)
|
|
|
NM_199242.3(UNC13D):c.2553+11C>A
|
|
|
NM_199242.3(UNC13D):c.2553+11C>G
|
rs774613615
|
|
NM_199242.3(UNC13D):c.2553+11C>T
|
rs774613615
|
|
NM_199242.3(UNC13D):c.2553+13G>A
|
|
|
NM_199242.3(UNC13D):c.2553+14T>G
|
|
|
NM_199242.3(UNC13D):c.2553+7G>C
|
|
|
NM_199242.3(UNC13D):c.2554-16C>A
|
rs184354110
|
|
NM_199242.3(UNC13D):c.2554-18C>T
|
|
|
NM_199242.3(UNC13D):c.2554-5C>T
|
|
|
NM_199242.3(UNC13D):c.2554-7C>T
|
rs1567817114
|
|
NM_199242.3(UNC13D):c.2557C>T (p.Leu853=)
|
|
|
NM_199242.3(UNC13D):c.2577T>C (p.Ala859=)
|
|
|
NM_199242.3(UNC13D):c.2589C>G (p.Gly863=)
|
rs181621682
|
|
NM_199242.3(UNC13D):c.2590C>T (p.Leu864=)
|
|
|
NM_199242.3(UNC13D):c.2598_2599inv (p.Lys867Glu)
|
|
|
NM_199242.3(UNC13D):c.261+11C>T
|
|
|
NM_199242.3(UNC13D):c.261+17C>A
|
rs2143900774
|
|
NM_199242.3(UNC13D):c.261+17C>T
|
|
|
NM_199242.3(UNC13D):c.261+18C>T
|
|
|
NM_199242.3(UNC13D):c.261+19C>T
|
|
|
NM_199242.3(UNC13D):c.261+8C>A
|
|
|
NM_199242.3(UNC13D):c.261+8C>G
|
|
|
NM_199242.3(UNC13D):c.262-18C>G
|
|
|
NM_199242.3(UNC13D):c.262-9C>T
|
|
|
NM_199242.3(UNC13D):c.2625+13_2625+14insAA
|
|
|
NM_199242.3(UNC13D):c.2625+18G>A
|
|
|
NM_199242.3(UNC13D):c.2625+18G>C
|
|
|
NM_199242.3(UNC13D):c.270C>T (p.His90=)
|
|
|
NM_199242.3(UNC13D):c.279C>G (p.Pro93=)
|
rs3744007
|
|
NM_199242.3(UNC13D):c.291G>A (p.Gln97=)
|
|
|
NM_199242.3(UNC13D):c.2955-11T>A
|
|
|
NM_199242.3(UNC13D):c.2955-12C>G
|
|
|
NM_199242.3(UNC13D):c.2955-16del
|
|
|
NM_199242.3(UNC13D):c.2955-18C>G
|
|
|
NM_199242.3(UNC13D):c.2955-19G>A
|
rs1229155468
|
|
NM_199242.3(UNC13D):c.2955-19G>C
|
|
|
NM_199242.3(UNC13D):c.2955-6C>T
|
rs753334662
|
|
NM_199242.3(UNC13D):c.2955-7C>G
|
|
|
NM_199242.3(UNC13D):c.2955-9T>G
|
|
|
NM_199242.3(UNC13D):c.2955-9_2955-8del
|
|
|
NM_199242.3(UNC13D):c.2979C>T (p.Arg993=)
|
|
|
NM_199242.3(UNC13D):c.2982G>A (p.Lys994=)
|
|
|
NM_199242.3(UNC13D):c.2988G>A (p.Gly996=)
|
|
|
NM_199242.3(UNC13D):c.2997C>T (p.Leu999=)
|
|
|
NM_199242.3(UNC13D):c.3000G>T (p.Leu1000=)
|
|
|
NM_199242.3(UNC13D):c.3003C>A (p.Leu1001=)
|
rs1282273933
|
|
NM_199242.3(UNC13D):c.3009G>A (p.Val1003=)
|
|
|
NM_199242.3(UNC13D):c.3010C>T (p.Leu1004=)
|
|
|
NM_199242.3(UNC13D):c.3012G>A (p.Leu1004=)
|
|
|
NM_199242.3(UNC13D):c.3024G>A (p.Thr1008=)
|
rs562357679
|
|
NM_199242.3(UNC13D):c.3024G>C (p.Thr1008=)
|
|
|
NM_199242.3(UNC13D):c.3033C>A (p.Ala1011=)
|
|
|
NM_199242.3(UNC13D):c.3039C>T (p.Asp1013=)
|
rs769897808
|
|
NM_199242.3(UNC13D):c.3063G>A (p.Pro1021=)
|
|
|
NM_199242.3(UNC13D):c.3063G>T (p.Pro1021=)
|
rs755709094
|
|
NM_199242.3(UNC13D):c.3075G>T (p.Val1025=)
|
rs750974136
|
|
NM_199242.3(UNC13D):c.3078C>G (p.Pro1026=)
|
rs372034111
|
|
NM_199242.3(UNC13D):c.30G>A (p.Gln10=)
|
|
|
NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)
|
|
|
NM_199242.3(UNC13D):c.3141C>T (p.Pro1047=)
|
|
|
NM_199242.3(UNC13D):c.3147C>A (p.Pro1049=)
|
|
|
NM_199242.3(UNC13D):c.3151+13C>G
|
|
|
NM_199242.3(UNC13D):c.3151+15A>C
|
|
|
NM_199242.3(UNC13D):c.3151+17G>T
|
|
|
NM_199242.3(UNC13D):c.3151+18G>A
|
|
|
NM_199242.3(UNC13D):c.3152-10C>G
|
|
|
NM_199242.3(UNC13D):c.3152-11TC[2]
|
rs1308040427
|
|
NM_199242.3(UNC13D):c.3152-12C>T
|
|
|
NM_199242.3(UNC13D):c.3152-14C>T
|
|
|
NM_199242.3(UNC13D):c.3152-15C>T
|
|
|
NM_199242.3(UNC13D):c.3152-8C>T
|
|
|
NM_199242.3(UNC13D):c.3153G>T (p.Gly1051=)
|
|
|
NM_199242.3(UNC13D):c.3159A>G (p.Pro1053=)
|
|
|
NM_199242.3(UNC13D):c.315G>A (p.Glu105=)
|
|
|
NM_199242.3(UNC13D):c.3183G>C (p.Arg1061=)
|
rs2143858841
|
|
NM_199242.3(UNC13D):c.3195A>G (p.Arg1065=)
|
|
|
NM_199242.3(UNC13D):c.3201C>G (p.Ala1067=)
|
|
|
NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)
|
|
|
NM_199242.3(UNC13D):c.321+17G>A
|
|
|
NM_199242.3(UNC13D):c.321+18T>C
|
rs2143900206
|
|
NM_199242.3(UNC13D):c.321+19C>T
|
|
|
NM_199242.3(UNC13D):c.321+7T>A
|
|
|
NM_199242.3(UNC13D):c.321+7T>C
|
|
|
NM_199242.3(UNC13D):c.321+9G>A
|
rs779684660
|
|
NM_199242.3(UNC13D):c.3210T>C (p.Phe1070=)
|
|
|
NM_199242.3(UNC13D):c.322-11dup
|
|
|
NM_199242.3(UNC13D):c.322-12C>T
|
|
|
NM_199242.3(UNC13D):c.322-13C>A
|
rs2064959329
|
|
NM_199242.3(UNC13D):c.322-15C>T
|
|
|
NM_199242.3(UNC13D):c.322-17C>T
|
|
|
NM_199242.3(UNC13D):c.322-4C>T
|
|
|
NM_199242.3(UNC13D):c.322-6del
|
|
|
NM_199242.3(UNC13D):c.3249G>A (p.Gln1083=)
|
|
|
NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=)
|
|
|
NM_199242.3(UNC13D):c.336T>C (p.Cys112=)
|
|
|
NM_199242.3(UNC13D):c.337C>T (p.Leu113=)
|
rs1599415178
|
|
NM_199242.3(UNC13D):c.348A>G (p.Thr116=)
|
|
|
NM_199242.3(UNC13D):c.366C>T (p.Gly122=)
|
|
|
NM_199242.3(UNC13D):c.388+12G>A
|
|
|
NM_199242.3(UNC13D):c.388+12G>T
|
|
|
NM_199242.3(UNC13D):c.388+14G>A
|
|
|
NM_199242.3(UNC13D):c.388+15G>C
|
|
|
NM_199242.3(UNC13D):c.388+16G>A
|
|
|
NM_199242.3(UNC13D):c.388+17G>T
|
|
|
NM_199242.3(UNC13D):c.388+8T>G
|
|
|
NM_199242.3(UNC13D):c.389-13C>T
|
rs1376263454
|
|
NM_199242.3(UNC13D):c.389-16C>T
|
|
|
NM_199242.3(UNC13D):c.389-6C>T
|
|
|
NM_199242.3(UNC13D):c.389-9C>A
|
rs946234751
|
|
NM_199242.3(UNC13D):c.389-9C>T
|
|
|
NM_199242.3(UNC13D):c.396C>T (p.Ser132=)
|
|
|
NM_199242.3(UNC13D):c.411G>A (p.Leu137=)
|
|
|
NM_199242.3(UNC13D):c.414G>A (p.Leu138=)
|
|
|
NM_199242.3(UNC13D):c.417C>T (p.Gly139=)
|
|
|
NM_199242.3(UNC13D):c.42C>T (p.Phe14=)
|
|
|
NM_199242.3(UNC13D):c.432A>G (p.Val144=)
|
|
|
NM_199242.3(UNC13D):c.456G>C (p.Gly152=)
|
rs1599414821
|
|
NM_199242.3(UNC13D):c.462G>A (p.Arg154=)
|
|
|
NM_199242.3(UNC13D):c.468G>C (p.Arg156=)
|
|
|
NM_199242.3(UNC13D):c.48C>T (p.Arg16=)
|
|
|
NM_199242.3(UNC13D):c.492C>G (p.Thr164=)
|
|
|
NM_199242.3(UNC13D):c.495C>A (p.Ile165=)
|
|
|
NM_199242.3(UNC13D):c.498C>A (p.Pro166=)
|
|
|
NM_199242.3(UNC13D):c.501G>A (p.Glu167=)
|
|
|
NM_199242.3(UNC13D):c.504G>A (p.Glu168=)
|
|
|
NM_199242.3(UNC13D):c.510C>A (p.Thr170=)
|
|
|
NM_199242.3(UNC13D):c.513C>T (p.His171=)
|
|
|
NM_199242.3(UNC13D):c.519G>T (p.Thr173=)
|
|
|
NM_199242.3(UNC13D):c.537A>G (p.Thr179=)
|
rs1333039141
|
|
NM_199242.3(UNC13D):c.540C>G (p.Leu180=)
|
|
|
NM_199242.3(UNC13D):c.546C>T (p.Pro182=)
|
|
|
NM_199242.3(UNC13D):c.54C>T (p.Ala18=)
|
|
|
NM_199242.3(UNC13D):c.561C>T (p.Thr187=)
|
|
|
NM_199242.3(UNC13D):c.567C>T (p.Ile189=)
|
|
|
NM_199242.3(UNC13D):c.569+11G>C
|
|
|
NM_199242.3(UNC13D):c.570-10C>A
|
rs2064944765
|
|
NM_199242.3(UNC13D):c.570-16C>G
|
|
|
NM_199242.3(UNC13D):c.570-17C>T
|
|
|
NM_199242.3(UNC13D):c.570-19C>A
|
|
|
NM_199242.3(UNC13D):c.570-19C>T
|
|
|
NM_199242.3(UNC13D):c.570-4A>G
|
|
|
NM_199242.3(UNC13D):c.570-6A>T
|
|
|
NM_199242.3(UNC13D):c.588C>T (p.Thr196=)
|
|
|
NM_199242.3(UNC13D):c.594G>C (p.Ala198=)
|
rs755967157
|
|
NM_199242.3(UNC13D):c.614+11T>C
|
|
|
NM_199242.3(UNC13D):c.614+12G>A
|
|
|
NM_199242.3(UNC13D):c.614+14C>T
|
|
|
NM_199242.3(UNC13D):c.614+20C>T
|
|
|
NM_199242.3(UNC13D):c.614+9C>A
|
|
|
NM_199242.3(UNC13D):c.615-10G>A
|
|
|
NM_199242.3(UNC13D):c.615-10G>C
|
rs200803997
|
|
NM_199242.3(UNC13D):c.615-12C>G
|
|
|
NM_199242.3(UNC13D):c.615-6T>G
|
|
|
NM_199242.3(UNC13D):c.621G>T (p.Leu207=)
|
rs1199198868
|
|
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
|
rs553365957
|
|
NM_199242.3(UNC13D):c.648G>A (p.Lys216=)
|
|
|
NM_199242.3(UNC13D):c.654G>A (p.Gly218=)
|
|
|
NM_199242.3(UNC13D):c.663G>C (p.Thr221=)
|
|
|
NM_199242.3(UNC13D):c.672T>C (p.His224=)
|
|
|
NM_199242.3(UNC13D):c.681C>A (p.Arg227=)
|
|
|
NM_199242.3(UNC13D):c.683+17T>C
|
|
|
NM_199242.3(UNC13D):c.683+8_683+9insGTGTG
|
rs751253097
|
|
NM_199242.3(UNC13D):c.683+9T>C
|
|
|
NM_199242.3(UNC13D):c.684-13C>T
|
|
|
NM_199242.3(UNC13D):c.684-14C>A
|
|
|
NM_199242.3(UNC13D):c.684-14C>G
|
|
|
NM_199242.3(UNC13D):c.684-4G>A
|
|
|
NM_199242.3(UNC13D):c.684-6A>T
|
|
|
NM_199242.3(UNC13D):c.684-9C>G
|
|
|
NM_199242.3(UNC13D):c.699C>T (p.Ala233=)
|
|
|
NM_199242.3(UNC13D):c.69C>A (p.Arg23=)
|
|
|
NM_199242.3(UNC13D):c.705G>A (p.Lys235=)
|
|
|
NM_199242.3(UNC13D):c.720C>T (p.Asp240=)
|
|
|
NM_199242.3(UNC13D):c.726T>C (p.Phe242=)
|
|
|
NM_199242.3(UNC13D):c.732G>A (p.Gly244=)
|
|
|
NM_199242.3(UNC13D):c.732G>C (p.Gly244=)
|
|
|
NM_199242.3(UNC13D):c.744G>A (p.Leu248=)
|
|
|
NM_199242.3(UNC13D):c.753+12G>A
|
rs2064940233
|
|
NM_199242.3(UNC13D):c.753+17A>G
|
|
|
NM_199242.3(UNC13D):c.753+20G>A
|
|
|
NM_199242.3(UNC13D):c.753+7A>C
|
|
|
NM_199242.3(UNC13D):c.754-15A>T
|
rs2143892706
|
|
NM_199242.3(UNC13D):c.756C>T (p.Asp252=)
|
|
|
NM_199242.3(UNC13D):c.75A>G (p.Arg25=)
|
|
|
NM_199242.3(UNC13D):c.777G>A (p.Gln259=)
|
|
|
NM_199242.3(UNC13D):c.789G>A (p.Leu263=)
|
|
|
NM_199242.3(UNC13D):c.810C>T (p.Tyr270=)
|
|
|
NM_199242.3(UNC13D):c.831C>T (p.His277=)
|
|
|
NM_199242.3(UNC13D):c.858+10G>A
|
rs775728355
|
|
NM_199242.3(UNC13D):c.858+13C>G
|
|
|
NM_199242.3(UNC13D):c.858+14T>C
|
|
|
NM_199242.3(UNC13D):c.858+18C>T
|
|
|
NM_199242.3(UNC13D):c.858+19C>T
|
|
|
NM_199242.3(UNC13D):c.858+7C>T
|
|
|
NM_199242.3(UNC13D):c.859-7A>T
|
rs1599412377
|
|
NM_199242.3(UNC13D):c.861A>G (p.Arg287=)
|
|
|
NM_199242.3(UNC13D):c.870G>A (p.Ser290=)
|
|
|
NM_199242.3(UNC13D):c.873C>T (p.Ala291=)
|
rs2064936969
|
|
NM_199242.3(UNC13D):c.888G>A (p.Pro296=)
|
rs7223416
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NM_199242.3(UNC13D):c.888G>T (p.Pro296=)
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NM_199242.3(UNC13D):c.897C>A (p.Thr299=)
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NM_199242.3(UNC13D):c.897C>G (p.Thr299=)
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|
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NM_199242.3(UNC13D):c.897C>T (p.Thr299=)
|
rs771228394
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NM_199242.3(UNC13D):c.900G>A (p.Val300=)
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NM_199242.3(UNC13D):c.903C>T (p.His301=)
|
rs544643767
|
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NM_199242.3(UNC13D):c.906C>G (p.Leu302=)
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NM_199242.3(UNC13D):c.909C>T (p.His303=)
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NM_199242.3(UNC13D):c.912C>T (p.Leu304=)
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|
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NM_199242.3(UNC13D):c.942C>G (p.Thr314=)
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|
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NM_199242.3(UNC13D):c.948C>T (p.His316=)
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NM_199242.3(UNC13D):c.951+18C>G
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NM_199242.3(UNC13D):c.951+9C>T
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NM_199242.3(UNC13D):c.952-10C>T
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NM_199242.3(UNC13D):c.952-14C>T
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NM_199242.3(UNC13D):c.952-15A>G
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NM_199242.3(UNC13D):c.952-16C>T
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|
NM_199242.3(UNC13D):c.952-18T>G
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|
NM_199242.3(UNC13D):c.952-19C>T
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|
|
NM_199242.3(UNC13D):c.952-4T>C
|
rs2143891583
|
|
NM_199242.3(UNC13D):c.952-5C>A
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|
NM_199242.3(UNC13D):c.952-9T>A
|
|
|
NM_199242.3(UNC13D):c.963C>T (p.Thr321=)
|
|
|
NM_199242.3(UNC13D):c.975G>A (p.Gly325=)
|
|
|
NM_199242.3(UNC13D):c.981G>C (p.Leu327=)
|
|
|
NM_199242.3(UNC13D):c.99G>T (p.Pro33=)
|
|
|
NM_199242.3(UNC13D):c.9A>G (p.Thr3=)
|
rs376902386
|
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