NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_001003722.2(GLE1):c.433-10A>G
|
rs386833693
|
0.00082
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_004260.4(RECQL4):c.1390+2del
|
rs386833843
|
0.00043
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
|
rs142067039
|
0.00031
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000136.3(FANCC):c.355_358del (p.Ser119fs)
|
rs750003253
|
0.00019
|
NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
|
rs202146344
|
0.00017
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)
|
rs201947120
|
0.00016
|
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
|
rs370167241
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)
|
rs139073416
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)
|
rs149459910
|
0.00011
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
|
rs121434407
|
0.00010
|
NM_001003722.2(GLE1):c.1849G>A (p.Val617Met)
|
rs121434408
|
0.00010
|
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys)
|
rs564164674
|
0.00010
|
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys)
|
rs372392424
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)
|
rs747575528
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
0.00009
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter)
|
rs375682284
|
0.00007
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00007
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_001003722.2(GLE1):c.2051T>C (p.Ile684Thr)
|
rs121434409
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter)
|
rs183415577
|
0.00006
|
NM_001278689.2(EOGT):c.1335-1G>A
|
rs185181819
|
0.00006
|
NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly)
|
rs1256773607
|
0.00006
|
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)
|
rs267606766
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)
|
rs141952252
|
0.00006
|
NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr)
|
rs387907023
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)
|
rs779432560
|
0.00006
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_001278689.2(EOGT):c.311+1G>T
|
rs369583084
|
0.00005
|
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)
|
rs751050956
|
0.00005
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly)
|
rs587777252
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)
|
rs766567785
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)
|
rs267606767
|
0.00004
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_004629.2(FANCG):c.832dup (p.Ala278fs)
|
rs1290655946
|
0.00004
|
NM_005199.5(CHRNG):c.397del (p.Ser133fs)
|
rs780249576
|
0.00004
|
NM_005592.4(MUSK):c.40dup (p.Thr14fs)
|
rs863223335
|
0.00004
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)
|
rs866803539
|
0.00004
|
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
|
rs773014744
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_032634.3(PIGO):c.3069+5G>A
|
rs368953604
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)
|
rs746404398
|
0.00003
|
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)
|
rs760768475
|
0.00003
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)
|
rs376642208
|
0.00003
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)
|
rs267606769
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp)
|
rs773359554
|
0.00003
|
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)
|
rs1377622831
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)
|
rs869312827
|
0.00003
|
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)
|
rs761865592
|
0.00003
|
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter)
|
rs145160045
|
0.00003
|
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
|
rs751954386
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys)
|
rs869312813
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)
|
rs748820015
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys)
|
rs104894383
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)
|
rs753316789
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)
|
rs121909507
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)
|
rs866050664
|
0.00002
|
NM_001278.5(CHUK):c.1264C>T (p.Gln422Ter)
|
rs267606736
|
0.00002
|
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)
|
rs587776995
|
0.00002
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
NM_004629.2(FANCG):c.1144-1G>T
|
rs755363896
|
0.00002
|
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)
|
rs776122485
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)
|
rs779834525
|
0.00002
|
NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp)
|
rs587776921
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)
|
rs782176647
|
0.00002
|
NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)
|
rs748809300
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00002
|
NM_018668.5(VPS33B):c.403+2T>A
|
rs769333468
|
0.00002
|
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
|
rs1011870043
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter)
|
rs1242562412
|
0.00002
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)
|
rs779707723
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)
|
rs750329103
|
0.00001
|
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)
|
rs374391312
|
0.00001
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)
|
rs762526878
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val)
|
rs935069258
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
|
rs762804216
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr)
|
rs764157478
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)
|
rs1831179586
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.916_917del (p.Asp306fs)
|
rs779806106
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)
|
rs121918492
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)
|
rs28936683
|
0.00001
|
NM_000557.5(GDF5):c.1471G>A (p.Glu491Lys)
|
rs74315389
|
0.00001
|
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)
|
rs121909505
|
0.00001
|
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)
|
rs121909506
|
0.00001
|
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)
|
rs776218605
|
0.00001
|
NM_000900.5(MGP):c.62-2A>G
|
rs112518413
|
0.00001
|
NM_001003722.2(GLE1):c.1882-2A>G
|
rs1336481358
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
|
rs1181436417
|
0.00001
|
NM_001018115.3(FANCD2):c.1948-6C>A
|
rs779350241
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
|
rs764507146
|
0.00001
|
NM_001018115.3(FANCD2):c.3777+1G>T
|
rs1434069831
|
0.00001
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
NM_001018115.3(FANCD2):c.3888+2T>G
|
rs1419879344
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.696-1G>A
|
rs954555240
|
0.00001
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
NM_001113378.2(FANCI):c.157+78G>A
|
rs963339667
|
0.00001
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
|
rs551399966
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)
|
rs1303324683
|
0.00001
|
NM_001113378.2(FANCI):c.3006+3A>G
|
rs1294973649
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)
|
rs771312042
|
0.00001
|
NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)
|
rs730882163
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001164508.2(NEB):c.928-1G>A
|
rs1162553327
|
0.00001
|
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter)
|
rs778181495
|
0.00001
|
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter)
|
rs200370925
|
0.00001
|
NM_001198800.3(ASCC1):c.311-2A>G
|
rs1281256224
|
0.00001
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
NM_001198800.3(ASCC1):c.871+1G>A
|
rs763845791
|
0.00001
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)
|
rs397514621
|
0.00001
|
NM_001271938.2(MEGF8):c.1788+1G>C
|
rs1206116606
|
0.00001
|
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)
|
rs397515427
|
0.00001
|
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)
|
rs267606768
|
0.00001
|
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)
|
rs886039821
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr)
|
rs267607221
|
0.00001
|
NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg)
|
rs387906657
|
0.00001
|
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)
|
rs397515422
|
0.00001
|
NM_002470.4(MYH3):c.1581+1G>A
|
rs1350968647
|
0.00001
|
NM_002470.4(MYH3):c.2170C>T (p.Arg724Ter)
|
rs763239874
|
0.00001
|
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)
|
rs121913623
|
0.00001
|
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)
|
rs121434590
|
0.00001
|
NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter)
|
rs774070092
|
0.00001
|
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)
|
rs1064793257
|
0.00001
|
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)
|
rs201987709
|
0.00001
|
NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)
|
rs144659252
|
0.00001
|
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)
|
rs121908835
|
0.00001
|
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)
|
rs121908836
|
0.00001
|
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)
|
rs1406641581
|
0.00001
|
NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)
|
rs104893832
|
0.00001
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
0.00001
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)
|
rs1209807088
|
0.00001
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_004826.4(ECEL1):c.1211G>A (p.Arg404His)
|
rs751317107
|
0.00001
|
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)
|
rs587776919
|
0.00001
|
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)
|
rs606231471
|
0.00001
|
NM_004826.4(ECEL1):c.2278T>C (p.Cys760Arg)
|
rs587777129
|
0.00001
|
NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys)
|
rs878853117
|
0.00001
|
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)
|
rs2076433607
|
0.00001
|
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)
|
rs121912672
|
0.00001
|
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)
|
rs121912671
|
0.00001
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)
|
rs765746795
|
0.00001
|
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)
|
rs121912670
|
0.00001
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)
|
rs1238400476
|
0.00001
|
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)
|
rs1255531873
|
0.00001
|
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)
|
rs1487680236
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)
|
rs763656507
|
0.00001
|
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)
|
rs778502240
|
0.00001
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter)
|
rs1660258358
|
0.00001
|
NM_014489.4(PGAP2):c.646G>A (p.Gly216Arg)
|
rs1064797152
|
0.00001
|
NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys)
|
rs1941551290
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)
|
rs1438138090
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)
|
rs397515417
|
0.00001
|
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)
|
rs1209349503
|
0.00001
|
NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter)
|
rs1263540507
|
0.00001
|
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)
|
rs1057520299
|
0.00001
|
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)
|
rs1226716539
|
0.00001
|
NM_020812.4(DOCK6):c.4106+1G>A
|
rs1192375765
|
0.00001
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)
|
rs1034818403
|
0.00001
|
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter)
|
rs140760056
|
0.00001
|
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
|
rs374626826
|
0.00001
|
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)
|
rs903442271
|
0.00001
|
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
|
rs1383262366
|
0.00001
|
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs)
|
rs1888623566
|
0.00001
|
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
|
rs757391108
|
0.00001
|
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs)
|
rs1566766719
|
0.00001
|
NM_020937.4(FANCM):c.4401del (p.Ser1468fs)
|
rs1405059699
|
0.00001
|
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs)
|
rs758498345
|
0.00001
|
NM_020937.4(FANCM):c.5530del (p.Gln1844fs)
|
rs778451008
|
0.00001
|
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
|
rs1379375089
|
0.00001
|
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)
|
rs1209536013
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
|
rs760150539
|
0.00001
|
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)
|
rs397514674
|
0.00001
|
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)
|
rs387906960
|
0.00001
|
NM_022458.4(LMBR1):c.423+4915C>T
|
rs587779752
|
0.00001
|
NM_022725.4(FANCF):c.2T>G (p.Met1Arg)
|
rs745495865
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032444.4(SLX4):c.1163+2T>A
|
rs773642409
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)
|
rs761314760
|
0.00001
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)
|
rs767631456
|
0.00001
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
NM_032634.4(PIGO):c.1087C>T (p.Gln363Ter)
|
rs1829507609
|
0.00001
|
NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter)
|
rs750636989
|
0.00001
|
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter)
|
rs1829625950
|
0.00001
|
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter)
|
rs1247927038
|
0.00001
|
NM_032634.4(PIGO):c.773del (p.Val258fs)
|
rs765723177
|
0.00001
|
NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter)
|
rs757011098
|
0.00001
|
NM_033419.5(PGAP3):c.694+1G>A
|
rs144574243
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)
|
rs374677519
|
0.00001
|
NM_130468.4(CHST14):c.171del (p.Leu58fs)
|
rs1256212335
|
0.00001
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)
|
rs1366269616
|
0.00001
|
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)
|
rs1064797094
|
0.00001
|
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)
|
rs779232987
|
0.00001
|
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter)
|
rs1369020144
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)
|
rs137852925
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)
|
rs1265421045
|
0.00001
|
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
|
rs781623802
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
|
rs1282621867
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
|
rs1715453232
|
0.00001
|
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)
|
rs146538906
|
0.00001
|
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
|
rs144167138
|
0.00001
|
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs)
|
rs1560126707
|
0.00001
|
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
|
rs1577093258
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)
|
rs1720937470
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter)
|
rs942590430
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)
|
rs1729663828
|
0.00001
|
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)
|
rs753152908
|
0.00001
|
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
|
rs1317662938
|
0.00001
|
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)
|
rs1460597472
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
|
rs774949132
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
|
rs374752679
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.773dup (p.Tyr258Ter)
|
rs748201094
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)
|
rs1560323242
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter)
|
rs539703340
|
0.00001
|
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)
|
rs775011495
|
0.00001
|
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)
|
rs760715690
|
0.00001
|
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)
|
rs746177326
|
0.00001
|
46;XY;t(2;10)(p25;q26)dn
|
|
|
FANCB, 3314-BP DEL
|
|
|
FANCC, 250-BP DEL
|
|
|
GLI2, 1256TER
|
|
|
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
|
|
|
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
|
|
|
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
|
|
|
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
|
|
|
GRCh37/hg19 17p13.3(chr17:1084016-1278527)
|
|
|
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)
|
|
|
GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:42929777-42937911)
|
|
|
GRCh37/hg19 1q21.1(chr1:145038814-145747463)
|
|
|
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1
|
|
|
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)
|
|
|
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)
|
|
|
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)
|
|
|
GRCh37/hg19 2q37.3(chr2:239071623-243048760)
|
|
|
GRCh37/hg19 2q37.3(chr2:239860877-241385960)
|
|
|
GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1
|
|
|
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
|
|
|
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
|
|
|
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3
|
|
|
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
|
|
|
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
|
|
|
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
|
|
|
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
|
|
|
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1
|
|
|
NC_000001.10:g.(?_100316589)_(100483381_?)del
|
|
|
NC_000001.10:g.(?_100316589)_(100488042_?)del
|
|
|
NC_000001.10:g.(?_100436083)_(100477099_?)del
|
|
|
NC_000001.10:g.(?_100436083)_(100480986_?)del
|
|
|
NC_000001.10:g.(?_100459083)_(100459307_?)del
|
|
|
NC_000001.10:g.(?_100472580)_(100477099_?)del
|
|
|
NC_000001.10:g.(?_145413072)_(145592772_145596903)del
|
|
|
NC_000001.10:g.(?_145414782)_(145610584_?)del
|
|
|
NC_000001.10:g.(?_145507647)_(145509231_?)del
|
|
|
NC_000001.10:g.(?_209961765)_(209965792_?)del
|
|
|
NC_000001.10:g.(?_209974565)_(209974778_?)del
|
|
|
NC_000001.10:g.(?_209974565)_(209979435_?)del
|
|
|
NC_000001.10:g.145505732_145513588del
|
|
|
NC_000001.11:g.(?_100007014)_(100011553_?)del
|
|
|
NC_000002.11:g.(?_175612832)_(175619162_?)del
|
|
|
NC_000002.11:g.(?_175612852)_(175629122_?)del
|
|
|
NC_000002.11:g.(?_233390926)_(233400022_?)del
|
|
|
NC_000002.11:g.(?_58386900)_(58459267_?)del
|
|
|
NC_000002.11:g.(?_58425719)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58459169)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58468333)_(58468448_?)del
|
|
|
NC_000002.12:g.(211789273_236710421)dup
|
rs2106321147
|
|
NC_000002.12:g.(?_174747592)_(174754414_?)del
|
|
|
NC_000002.12:g.(?_58159755)_(58241323_?)del
|
|
|
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
|
|
|
NC_000002.12:g.58232113del
|
|
|
NC_000003.11:g.(?_10070342)_(10074666_?)del
|
|
|
NC_000003.11:g.(?_10070342)_(10094191_?)del
|
|
|
NC_000003.11:g.(?_10070342)_(10140634_?)del
|
|
|
NC_000003.11:g.(?_10070342)_(10191719_?)del
|
|
|
NC_000003.11:g.(?_10074510)_(10085282_?)del
|
|
|
NC_000003.11:g.(?_10080953)_(10085558_?)del
|
|
|
NC_000003.11:g.(?_10105466)_(10107188_?)del
|
|
|
NC_000003.11:g.(?_10108063)_(10114567_?)del
|
|
|
NC_000003.11:g.(?_10127476)_(10136978_?)del
|
|
|
NC_000003.11:g.(?_10130113)_(10133956_?)del
|
|
|
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del
|
|
|
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
|
|
|
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
|
|
|
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
|
|
|
NC_000003.12:g.(?_10028648)_(10043874_?)del
|
|
|
NC_000003.12:g.(?_10028648)_(10046733_?)del
|
|
|
NC_000003.12:g.(?_10064723)_(10146642_?)del
|
|
|
NC_000004.11:g.(?_2200251)_(5710240_?)del
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)del
|
|
|
NC_000004.11:g.(?_3494466)_(3495228_?)del
|
|
|
NC_000004.11:g.(?_5563146)_(5711294_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5578191_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5586587_?)del
|
|
|
NC_000004.11:g.(?_5565510)_(5811251_?)del
|
|
|
NC_000004.11:g.(?_5576402)_(5576509_?)del
|
|
|
NC_000004.11:g.(?_5617139)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5630276)_(5633769_?)del
|
|
|
NC_000004.11:g.(?_5642221)_(5642585_?)del
|
|
|
NC_000004.11:g.(?_5682977)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5690874)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5696052)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5710003)_(5750043_?)del
|
|
|
NC_000004.11:g.(?_5711924)_(5817031_?)del
|
|
|
NC_000004.11:g.(?_5749725)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5758099_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5785501_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5798739)_(5798969_?)del
|
|
|
NC_000004.11:g.(?_5803667)_(5806578_?)del
|
|
|
NC_000004.11:g.(?_5809918)_(5811348_?)del
|
|
|
NC_000004.12:g.(?_3463366)_(3493511_?)del
|
|
|
NC_000004.12:g.(?_3473386)_(3489816_?)del
|
|
|
NC_000004.12:g.(?_3485519)_(3493521_?)del
|
|
|
NC_000004.12:g.(?_3485529)_(3485668_?)del
|
|
|
NC_000004.12:g.(?_3485529)_(3493511_?)del
|
|
|
NC_000004.12:g.(?_5562838)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5562848)_(5565369_?)del
|
|
|
NC_000004.12:g.(?_5568434)_(5568650_?)del
|
|
|
NC_000004.12:g.(?_5689147)_(5689353_?)del
|
|
|
NC_000004.12:g.(?_5729297)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5797002)_(5797252_?)del
|
|
|
NC_000004.12:g.5719249_5719252del
|
|
|
NC_000004.12:g.5729307del
|
|
|
NC_000005.10:g.(?_128328686)_(128330705_?)del
|
|
|
NC_000005.10:g.(?_36877164)_(37064912_?)del
|
|
|
NC_000005.10:g.(?_36953616)_(37017182_?)del
|
|
|
NC_000005.10:g.(?_37038582)_(37038758_?)del
|
|
|
NC_000005.10:g.(?_37044327)_(37049321_?)del
|
|
|
NC_000005.9:g.(?_36953718)_(37027534_?)del
|
|
|
NC_000005.9:g.(?_36953799)_(37064994_?)del
|
|
|
NC_000005.9:g.(?_36958186)_(36962396_?)del
|
|
|
NC_000005.9:g.(?_36970958)_(37371079_?)del
|
|
|
NC_000005.9:g.(?_37002744)_(37008845_?)del
|
|
|
NC_000005.9:g.(?_37036461)_(37036609_?)del
|
|
|
NC_000005.9:g.172252136_172274628del
|
|
|
NC_000006.12:g.(?_57186982)_(57222324_?)del
|
|
|
NC_000007.13:g.(?_19156336)_(19157207_?)del
|
|
|
NC_000007.14:g.(?_19116693)_(19117341_?)del
|
|
|
NC_000007.14:g.156350691_156939511dup
|
|
|
NC_000007.14:g.156771162_156817938dup
|
|
|
NC_000007.14:g.156778086_156854056dup
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)del
|
|
|
NC_000008.10:g.(?_38314854)_(38314964_?)del
|
|
|
NC_000008.11:g.(?_116857267)_(116863259_?)del
|
|
|
NC_000008.11:g.(?_38424489)_(38461126_?)del
|
|
|
NC_000009.11:g.(?_113431185)_(113550138_?)del
|
|
|
NC_000009.11:g.(?_113444934)_(113449568_?)del
|
|
|
NC_000009.11:g.(?_113449377)_(113457830_?)del
|
|
|
NC_000009.11:g.(?_113509901)_(113538955_?)del
|
|
|
NC_000009.11:g.(?_138392557)_(141016451_?)del
|
|
|
NC_000009.11:g.(?_138683633)_(139440248_?)del
|
|
|
NC_000009.11:g.(?_139404165)_(139405277_?)del
|
|
|
NC_000009.11:g.(?_34458984)_(35809462_?)del
|
|
|
NC_000009.11:g.(?_34459004)_(36276941_?)del
|
|
|
NC_000009.11:g.(?_97861619)_(97869538_?)del
|
|
|
NC_000009.11:g.(?_97863979)_(97934439_?)del
|
|
|
NC_000009.11:g.(?_97873735)_(97897794_?)del
|
|
|
NC_000009.11:g.(?_97876901)_(97879682_?)del
|
|
|
NC_000009.11:g.(?_97897618)_(97912379_?)del
|
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NC_000016.9:g.(?_89809198)_(89833655_?)del
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|
|
NC_000016.9:g.(?_89809198)_(89842233_?)del
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|
|
NC_000016.9:g.(?_89811347)_(89849530_?)del
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|
|
NC_000016.9:g.(?_89811357)_(89815185_?)del
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|
|
NC_000016.9:g.(?_89811357)_(89842233_?)del
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|
|
NC_000016.9:g.(?_89815047)_(89816330_?)del
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|
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NC_000016.9:g.(?_89815049)_(89883033_?)del
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|
NC_000016.9:g.(?_89816056)_(89816320_?)del
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NC_000016.9:g.(?_89816056)_(89849520_?)del
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NC_000016.9:g.(?_89818526)_(89874795_?)del
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|
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NC_000016.9:g.(?_89818536)_(89818822_?)del
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|
|
NC_000016.9:g.(?_89818536)_(89825128_?)del
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NC_000016.9:g.(?_89818536)_(89839802_?)del
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NC_000016.9:g.(?_89818536)_(89846375_?)del
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NC_000016.9:g.(?_89818536)_(89877489_?)del
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|
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NC_000016.9:g.(?_89824965)_(89825133_?)del
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|
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NC_000016.9:g.(?_89824975)_(89828440_?)del
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NC_000016.9:g.(?_89824975)_(89839802_?)del
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NC_000016.9:g.(?_89824975)_(89842233_?)del
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|
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NC_000016.9:g.(?_89824975)_(89883033_?)del
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NC_000016.9:g.(?_89825110)_(89923062_?)del
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NC_000016.9:g.(?_89828347)_(89839802_?)del
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NC_000016.9:g.(?_89828347)_(89842233_?)del
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NC_000016.9:g.(?_89828347)_(89862436_?)del
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NC_000016.9:g.(?_89828347)_(89874785_?)del
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NC_000016.9:g.(?_89831215)_(89831494_?)del
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NC_000016.9:g.(?_89831215)_(89849520_?)del
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NC_000016.9:g.(?_89831292)_(89833651_?)del
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NC_000016.9:g.(?_89833539)_(89833655_?)del
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NC_000016.9:g.(?_89833539)_(89839802_?)del
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NC_000016.9:g.(?_89833539)_(89842233_?)del
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NC_000016.9:g.(?_89833539)_(89858965_?)del
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NC_000016.9:g.(?_89833539)_(89862436_?)del
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NC_000016.9:g.(?_89836111)_(89839802_?)del
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NC_000016.9:g.(?_89836111)_(89858965_?)del
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NC_000016.9:g.(?_89836111)_(89883033_?)del
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NC_000016.9:g.(?_89836805)_(89883033_?)del
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NC_000016.9:g.(?_89836962)_(89838232_?)del
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NC_000016.9:g.(?_89838076)_(89842233_?)del
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NC_000016.9:g.(?_89838076)_(89858965_?)del
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NC_000016.9:g.(?_89838076)_(89874785_?)del
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NC_000016.9:g.(?_89838076)_(89883033_?)del
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NC_000016.9:g.(?_89839659)_(89851392_?)del
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NC_000016.9:g.(?_89839669)_(89866056_?)del
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NC_000016.9:g.(?_89842140)_(89842233_?)del
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NC_000016.9:g.(?_89842140)_(89845421_?)del
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NC_000016.9:g.(?_89842140)_(89846375_?)del
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|
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NC_000016.9:g.(?_89842140)_(89851382_?)del
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|
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NC_000016.9:g.(?_89842140)_(89866056_?)del
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|
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NC_000016.9:g.(?_89845199)_(89849520_?)del
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NC_000016.9:g.(?_89845199)_(89866056_?)del
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NC_000016.9:g.(?_89845199)_(89871810_?)del
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|
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NC_000016.9:g.(?_89845199)_(89874785_?)del
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|
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NC_000016.9:g.(?_89846267)_(89883024_?)del
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NC_000016.9:g.(?_89849247)_(89866066_?)del
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NC_000016.9:g.(?_89849257)_(89871810_?)del
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NC_000016.9:g.(?_89849257)_(89874785_?)del
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NC_000016.9:g.(?_89857801)_(89858965_?)del
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NC_000016.9:g.(?_89857801)_(89874785_?)del
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NC_000016.9:g.(?_89862294)_(89883023_?)del
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NC_000016.9:g.(?_89862304)_(89866056_?)del
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NC_000016.9:g.(?_89862304)_(89869759_?)del
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NC_000016.9:g.(?_89864654)_(89883024_?)del
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NC_000016.9:g.(?_89864654)_(89883033_?)del
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NC_000016.9:g.(?_89869657)_(89871810_?)del
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NC_000016.9:g.(?_89871678)_(89877489_?)del
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NC_000016.9:g.(?_89874692)_(89881031_?)del
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NC_000016.9:g.(?_89877105)_(89877489_?)del
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NC_000016.9:g.(?_89880908)_(89883023_?)del
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NC_000016.9:g.(?_89880918)_(89881031_?)del
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NC_000016.9:g.88172538_88337600del
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NC_000016.9:g.88224066_88408991del
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NC_000016.9:g.88257445_88409236del
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NC_000016.9:g.89839142_89867355del
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NC_000016.9:g.89840944_89876535del
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NC_000016.9:g.89840966_89866228del
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NC_000016.9:g.89844985_89869211del
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NC_000016.9:g.89857046_89867362del
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NC_000016.9:g.89863188_89878500del
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NC_000017.10:g.(?_56769920)_(56811662_?)del
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NC_000017.10:g.(?_56769986)_(56774230_?)del
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|
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NC_000017.10:g.(?_56769999)_(56787357_?)del
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|
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NC_000017.10:g.(?_56772282)_(56772560_?)del
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|
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NC_000017.10:g.(?_56774044)_(56774230_?)del
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NC_000017.10:g.(?_56780547)_(56787361_?)del
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NC_000017.10:g.(?_56780551)_(56787357_?)del
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NC_000017.10:g.(?_56787200)_(56787371_?)del
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|
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NC_000017.10:g.(?_56798097)_(56798183_?)del
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|
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NC_000017.10:g.(?_56798097)_(56801482_?)del
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|
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NC_000017.10:g.(?_59760657)_(59761511_?)del
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|
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NC_000017.10:g.(?_59760657)_(59763536_?)del
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|
|
NC_000017.10:g.(?_59760657)_(59770883_?)del
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|
|
NC_000017.10:g.(?_59760657)_(59821962_?)del
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|
|
NC_000017.10:g.(?_59760657)_(59861805_?)del
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|
|
NC_000017.10:g.(?_59760657)_(59871100_?)del
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|
|
NC_000017.10:g.(?_59760657)_(59934602_?)del
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|
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NC_000017.10:g.(?_59770781)_(59770883_?)del
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|
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NC_000017.10:g.(?_59770781)_(59938900_?)del
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|
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NC_000017.10:g.(?_59820364)_(59886128_?)del
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NC_000017.10:g.(?_59853752)_(59858376_?)del
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|
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NC_000017.10:g.(?_59857612)_(59858376_?)del
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|
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NC_000017.10:g.(?_59858191)_(59858864_?)del
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|
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NC_000017.10:g.(?_59861621)_(59861795_?)del
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|
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NC_000017.10:g.(?_59861718)_(59940920_?)del
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|
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NC_000017.10:g.(?_59870948)_(59871100_?)del
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NC_000017.10:g.(?_59876451)_(59886128_?)del
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NC_000017.10:g.(?_59924452)_(59938900_?)del
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NC_000017.10:g.(?_59926480)_(59926627_?)del
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NC_000017.10:g.(?_59926480)_(59934602_?)del
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|
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NC_000017.10:g.(?_59937147)_(59937278_?)del
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|
|
NC_000017.10:g.(?_59937147)_(59938900_?)del
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|
|
NC_000017.11:g.(?_58692625)_(58710000_?)del
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NC_000017.11:g.(?_58692625)_(58734222_?)del
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|
|
NC_000017.11:g.(?_58692634)_(58692798_?)del
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|
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NC_000017.11:g.(?_58692634)_(58703339_?)del
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|
|
NC_000017.11:g.(?_58692634)_(58710000_?)del
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|
|
NC_000017.11:g.(?_58692634)_(58734232_?)del
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|
|
NC_000017.11:g.(?_58692638)_(58734228_?)del
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|
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NC_000017.11:g.(?_58696687)_(58696865_?)del
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|
|
NC_000017.11:g.(?_58703186)_(58703339_?)del
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|
|
NC_000017.11:g.(?_58703186)_(58734222_?)del
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|
|
NC_000017.11:g.(?_58703186)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58703196)_(58709990_?)del
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|
|
NC_000017.11:g.(?_58709849)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58709849)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58734232_?)del
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|
|
NC_000017.11:g.(?_58720736)_(58734352_?)del
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|
|
NC_000017.11:g.(?_58720740)_(58720818_?)del
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|
|
NC_000017.11:g.(?_58720740)_(58724106_?)del
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|
|
NC_000017.11:g.(?_58720746)_(58734342_?)del
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|
|
NC_000017.11:g.(?_58732474)_(58734222_?)del
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|
|
NC_000017.11:g.(?_58732474)_(58734232_?)del
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|
|
NC_000017.11:g.(?_61683286)_(61693522_?)del
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|
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NC_000017.11:g.(?_61683286)_(61716073_?)del
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|
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NC_000017.11:g.(?_61683290)_(61684146_?)del
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|
|
NC_000017.11:g.(?_61683296)_(61716073_?)del
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|
|
NC_000017.11:g.(?_61715941)_(61716073_?)del
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|
|
NC_000017.11:g.(?_61715941)_(61808767_?)del
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|
|
NC_000017.11:g.(?_61743007)_(61808763_?)del
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|
|
NC_000017.11:g.(?_61744422)_(61744601_?)del
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|
|
NC_000017.11:g.(?_61776391)_(61808767_?)del
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|
|
NC_000017.11:g.(?_61776395)_(61801480_?)del
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|
|
NC_000017.11:g.(?_61776395)_(61861545_?)del
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|
|
NC_000017.11:g.(?_61780255)_(61781011_?)del
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|
|
NC_000017.11:g.(?_61799090)_(61801484_?)del
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|
|
NC_000017.11:g.(?_61847091)_(61849266_?)del
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|
|
NC_000017.11:g.(?_61847091)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_61847101)_(61849256_?)del
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|
|
NC_000017.11:g.(?_61857048)_(61861539_?)del
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|
|
NC_000017.11:g.(?_61857048)_(61861549_?)del
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|
|
NC_000017.11:g.(?_61857052)_(61861545_?)del
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|
|
NC_000017.11:g.(?_61859786)_(61861549_?)del
|
|
|
NC_000019.10:g.(?_42370701)_(42370831_?)del
|
|
|
NC_000020.10:g.(?_50400804)_(50418947_?)del
|
|
|
NC_000020.11:g.(51758515_51770114)_(51894383_?)del
|
|
|
NC_000020.11:g.(?_51802259)_(51802428_?)del
|
|
|
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
|
|
|
NC_000022.10:g.(?_41074407)_(41489122_?)del
|
|
|
NC_000022.10:g.(?_41553153)_(41554524_?)del
|
|
|
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
|
|
|
NC_000022.11:g.(?_41131368)_(41140277_?)del
|
|
|
NC_000022.11:g.(?_41151813)_(41152370_?)del
|
|
|
NC_000022.11:g.(?_41154975)_(41164150_?)del
|
|
|
NC_000023.10:g.(?_14861689)_(14891184_?)del
|
|
|
NC_000023.10:g.(?_14875974)_(14891184_?)del
|
|
|
NC_000023.10:g.(?_53222149)_(55057617_?)del
|
|
|
NC_000023.10:g.(?_53430478)_(53432101_?)del
|
|
|
NC_000023.10:g.(?_53430478)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53435973)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53448825)_(53449569_?)del
|
|
|
NC_000023.10:g.(?_53449431)_(53449549_?)del
|
|
|
NC_000023.10:g.(?_64166588)_(64361318_?)del
|
|
|
NC_000023.10:g.(?_71681834)_(71681968_?)del
|
|
|
NC_000023.10:g.71681853_72434328del752476
|
|
|
NC_000023.11:g.153585471_153589719del
|
|
|
NC_000023.11:g.153595512_153635582del
|
|
|
NC_000023.11:g.64951692_65166933del
|
|
|
NG_007406.1:g.(5249_8228)_(17155_19960)del
|
|
|
NG_009240.1:g.(71605_101850)_(134420_151298)dup
|
|
|
NG_009873.1:g.(?_5000)_(160068_?)del
|
|
|
NG_011706.1:g.10587_63081del
|
|
|
NG_011706.1:g.13291_71928del
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|
|
NG_031890.1:g.(?_60461)_(94053_?)del
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|
|
NIPBL, IVS44DS, A-G, +4
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4125_4138del (p.Glu1375fs)
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.486del (p.Ser163fs)
|
rs587780653
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
rs1566232471
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.658dup (p.Val220fs)
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter)
|
rs886038169
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)
|
rs1555286294
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)
|
rs80359070
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu)
|
rs80359130
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)
|
rs1566260827
|
|
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs)
|
rs768863116
|
|
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
|
|
|
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)
|
|
|
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
|
|
|
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter)
|
rs1684009556
|
|
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs)
|
rs753250273
|
|
NM_000079.4(CHRNA1):c.345-63_403del
|
|
|
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter)
|
rs1683929269
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)
|
rs1064793397
|
|
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)
|
rs137852809
|
|
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys)
|
rs137852798
|
|
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter)
|
rs1208011631
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)
|
rs2030965698
|
|
NM_000113.3(TOR1A):c.961del (p.Thr321fs)
|
rs774552108
|
|
NM_000135.2(FANCA):c.(?_-1)_522+?del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_3066+281del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-663del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-818del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-828del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_597-800del
|
|
|
NM_000135.2(FANCA):c.1006+539_3066+898del
|
|
|
NM_000135.2(FANCA):c.1006+727_1626+1288del
|
|
|
NM_000135.2(FANCA):c.1007-10_2504+209del
|
|
|
NM_000135.2(FANCA):c.1007_3066del
|
|
|
NM_000135.2(FANCA):c.1359+1138_1900+1140del
|
|
|
NM_000135.2(FANCA):c.1470+801_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.1471-191_1626+740del
|
|
|
NM_000135.2(FANCA):c.1471-275_1626+656del
|
|
|
NM_000135.2(FANCA):c.1626+1433_3349-564del
|
|
|
NM_000135.2(FANCA):c.1626+588_2778+888del
|
|
|
NM_000135.2(FANCA):c.1626+637_2778+1111del
|
|
|
NM_000135.2(FANCA):c.1716-215_2779-1067del
|
|
|
NM_000135.2(FANCA):c.1827-835_2779-1050del
|
|
|
NM_000135.2(FANCA):c.1901-1154_2779-889del
|
|
|
NM_000135.2(FANCA):c.2151+328_2778+1066del
|
|
|
NM_000135.2(FANCA):c.2505-976_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.2779_2852del
|
rs2038967116
|
|
NM_000135.2(FANCA):c.284del
|
rs2040861554
|
|
NM_000135.2(FANCA):c.2852+553_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.2852+734_3067-376del
|
|
|
NM_000135.2(FANCA):c.2853-1360_2982-2296del
|
|
|
NM_000135.2(FANCA):c.2853-382_*1312del
|
|
|
NM_000135.2(FANCA):c.2981+611_*1153del
|
|
|
NM_000135.2(FANCA):c.2982-1580_3067-209del
|
|
|
NM_000135.2:c.1471-490_3627-655del
|
|
|
NM_000135.2:c.1471_1626del
|
|
|
NM_000135.2:c.1627_1900del
|
|
|
NM_000135.2:c.522+715_2852+656del
|
|
|
NM_000135.4(FANCA):c.-1_2del (p.Met1del)
|
rs2143732272
|
|
NM_000135.4(FANCA):c.1006+2_1006+5del
|
rs2040229450
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
NM_000135.4(FANCA):c.1007-1del
|
rs2040110823
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs)
|
rs2143534611
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg)
|
rs1045404649
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)
|
rs2040094645
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
|
|
|
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs)
|
rs2040091643
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)
|
rs2040090895
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)
|
rs2040089994
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
NM_000135.4(FANCA):c.1226-6_1226-2del
|
rs2040076730
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)
|
rs769203048
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)
|
rs1199670660
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
NM_000135.4(FANCA):c.1430del (p.Leu477fs)
|
rs2039845956
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1470+1G>T
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1472_1566+1del
|
rs1567628967
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)
|
rs2041143697
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter)
|
rs2039775751
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
NM_000135.4(FANCA):c.1566+3A>C
|
rs2039773398
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs)
|
rs2143459144
|
|
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)
|
rs762342197
|
|
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
|
|
|
NM_000135.4(FANCA):c.1606del (p.Ser536fs)
|
rs587776570
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
NM_000135.4(FANCA):c.1626+967_2015-679del
|
|
|
NM_000135.4(FANCA):c.1627-1G>T
|
rs2039644862
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1703del (p.Val568fs)
|
rs2039642419
|
|
NM_000135.4(FANCA):c.1709_1715+4del
|
rs2039641869
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000135.4(FANCA):c.173dup (p.Asn58fs)
|
rs2041095962
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
NM_000135.4(FANCA):c.1750del (p.Leu584fs)
|
rs2143424348
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)
|
rs2039605345
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
|
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.190-146_284-1082del
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
NM_000135.4(FANCA):c.190-494_597-592del
|
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1del (p.Met1fs)
|
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)
|
rs1183781456
|
|
NM_000135.4(FANCA):c.2066del (p.Gly689fs)
|
rs2039334639
|
|
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)
|
rs2143711627
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2121del (p.Asn707fs)
|
rs2039331837
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
|
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
NM_000135.4(FANCA):c.2151+2_2151+3insG
|
rs2039330307
|
|
NM_000135.4(FANCA):c.2151+328_2778+1085del
|
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)
|
rs2039290343
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)
|
rs2039289431
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2223-3C>G
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)
|
rs1239354393
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
NM_000135.4(FANCA):c.2265dup (p.Arg756fs)
|
rs2143336220
|
|
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)
|
rs2039276663
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
|
|
|
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)
|
rs947786901
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.2316+1G>T
|
rs2039275333
|
|
NM_000135.4(FANCA):c.2317-2A>G
|
rs1567618264
|
|
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)
|
rs2039267300
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)
|
rs2039266434
|
|
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)
|
rs1036897594
|
|
NM_000135.4(FANCA):c.2368del (p.His790fs)
|
rs2143333169
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)
|
rs1307805145
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
NM_000135.4(FANCA):c.2504+134A>G
|
rs2039254077
|
|
NM_000135.4(FANCA):c.2504+2T>C
|
rs2039260502
|
|
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)
|
rs1216922486
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)
|
rs374030577
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)
|
rs1406289451
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
|
|
|
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs)
|
rs1567616135
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
NM_000135.4(FANCA):c.2602-1G>A
|
rs747823528
|
|
NM_000135.4(FANCA):c.2602-1G>T
|
rs747823528
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2602-2A>T
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)
|
rs1555545588
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val)
|
rs375919830
|
|
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)
|
rs762804216
|
|
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
|
rs2039078843
|
|
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)
|
rs1487360770
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
NM_000135.4(FANCA):c.2674del (p.Ser892fs)
|
rs2039077507
|
|
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)
|
rs2039077331
|
|
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)
|
rs2143288874
|
|
NM_000135.4(FANCA):c.2707dup (p.Trp903fs)
|
rs1225564406
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
|
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)
|
rs2039075542
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2736dup (p.His913fs)
|
rs2039074823
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+1G>T
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)
|
rs2038969261
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)
|
rs2038968872
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer)
|
rs2038967521
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1del
|
rs2041024132
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
NM_000135.4(FANCA):c.283+2T>G
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+1del
|
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)
|
rs2038844790
|
|
NM_000135.4(FANCA):c.285_522+1del
|
rs2040843894
|
|
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)
|
rs2038844292
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
|
|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
NM_000135.4(FANCA):c.2982-192A>G
|
rs2038628210
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)
|
rs769479800
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs)
|
rs2038617702
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-1G>A
|
rs2038522097
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)
|
rs1555538740
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)
|
rs1172710952
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)
|
rs2038517512
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3239+82T>G
|
rs2038511531
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3241_3626+1del
|
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs)
|
rs2143128062
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs)
|
rs2040859131
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)
|
rs752837228
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
NM_000135.4(FANCA):c.3348+5G>A
|
rs1343799019
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)
|
rs2038409656
|
|
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)
|
rs2038408351
|
|
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs)
|
rs2038407808
|
|
NM_000135.4(FANCA):c.3397del (p.His1133fs)
|
rs758917273
|
|
NM_000135.4(FANCA):c.3398del (p.His1133fs)
|
rs2038407878
|
|
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
|
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
|
rs2038398296
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
|
rs770393751
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3560dup (p.His1188fs)
|
rs2062211067
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
|
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)
|
rs770622823
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer)
|
rs1567598488
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del)
|
rs1375036674
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter)
|
rs375700263
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs)
|
rs2062169220
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.3765+1G>T
|
rs2062169124
|
|
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)
|
rs2062115822
|
|
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
|
|
|
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)
|
rs2062115605
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
|
rs752800577
|
|
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
|
|
|
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
|
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3828+1G>T
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3828+2dup
|
rs2062114186
|
|
NM_000135.4(FANCA):c.3829-1G>C
|
rs2062090760
|
|
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs)
|
rs2062089925
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
|
NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs)
|
rs2062087915
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-2A>T
|
rs1189106357
|
|
NM_000135.4(FANCA):c.396dup (p.His133fs)
|
rs2040855193
|
|
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)
|
rs2062069547
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
|
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
|
|
|
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)
|
rs1268944859
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4010_4010+18del
|
rs2062066871
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)
|
rs2062060149
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
|
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs)
|
rs2062057713
|
|
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)
|
rs1456500627
|
|
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs)
|
rs2062057035
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs)
|
rs2062054591
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
|
NM_000135.4(FANCA):c.4168-1G>C
|
rs2062047006
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)
|
rs749574677
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-8_427-5del
|
rs2040847430
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)
|
rs947111024
|
|
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)
|
rs2041137887
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
NM_000135.4(FANCA):c.470C>T (p.Ala157Val)
|
rs1251792942
|
|
NM_000135.4(FANCA):c.487del (p.Arg163fs)
|
rs2040845588
|
|
NM_000135.4(FANCA):c.495del (p.Phe166fs)
|
rs2143677288
|
|
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)
|
rs372691338
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
|
|
|
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)
|
rs121907930
|
|
NM_000135.4(FANCA):c.522+507_793-1273del
|
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)
|
rs2143657184
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
NM_000135.4(FANCA):c.596+548_793-219del
|
|
|
NM_000135.4(FANCA):c.597-2A>G
|
rs2040602804
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)
|
rs2040601073
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)
|
rs2041138210
|
|
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)
|
rs1354884515
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
|
rs1311396994
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
NM_000135.4(FANCA):c.784del (p.Met262fs)
|
rs2040520715
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.792G>A (p.Gln264=)
|
rs2040520107
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
NM_000135.4(FANCA):c.793-2A>C
|
rs2040372065
|
|
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)
|
rs2040370883
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
NM_000135.4(FANCA):c.826+4del
|
rs2040369776
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
NM_000135.4(FANCA):c.851dup (p.Val285fs)
|
rs1369685302
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.88del (p.Val30fs)
|
rs2041101804
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.893+920C>A
|
rs1174586234
|
|
NM_000135.4(FANCA):c.894-1137_1359+1837del
|
|
|
NM_000135.4(FANCA):c.894-1G>A
|
rs2040234338
|
|
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
|
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs)
|
rs2040232900
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)
|
rs2040231133
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4:c.1019_*580del
|
|
|
NM_000135.4:c.1471_2853del
|
|
|
NM_000135.4:c.1626_2602del
|
|
|
NM_000135.4:c.284_1627del
|
|
|
NM_000135.4:c.2853_*580del
|
|
|
NM_000135.4:c.874_2982del
|
|
|
NM_000135.4:c.894_2015del
|
|
|
NM_000136.2(FANCC):c.-78-?_250+?del
|
|
|
NM_000136.2(FANCC):c.997-?_1154+?del
|
|
|
NM_000136.3(FANCC):c.-262_-79+3686del
|
|
|
NM_000136.3(FANCC):c.1002del (p.Phe335fs)
|
rs2134694075
|
|
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)
|
rs1064795597
|
|
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
|
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
|
|
|
NM_000136.3(FANCC):c.1154+1del
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)
|
rs2134551203
|
|
NM_000136.3(FANCC):c.1199del (p.Phe400fs)
|
rs2134550787
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
|
rs2071939263
|
|
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
|
|
|
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
|
|
|
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
|
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
|
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
|
|
|
NM_000136.3(FANCC):c.1312_1329+68dup
|
rs1554829415
|
|
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs)
|
rs2071928804
|
|
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs)
|
rs2134546063
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
|
|
|
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)
|
rs2134456127
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
|
rs1831172189
|
|
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
|
rs1831171802
|
|
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)
|
rs1588029220
|
|
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
|
rs2071512726
|
|
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)
|
rs121917785
|
|
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)
|
rs762501862
|
|
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)
|
rs76895298
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
NM_000136.3(FANCC):c.1533+1G>A
|
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)
|
rs2071089000
|
|
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
|
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
|
|
|
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
|
|
|
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)
|
rs2071086256
|
|
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer)
|
rs2134382573
|
|
NM_000136.3(FANCC):c.165+1G>A
|
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)
|
rs2134382250
|
|
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
|
|
|
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
|
|
|
NM_000136.3(FANCC):c.201del (p.Ile67fs)
|
rs2136091157
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
NM_000136.3(FANCC):c.226del (p.Trp76fs)
|
rs2136090871
|
|
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)
|
rs1189888124
|
|
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer)
|
rs2136090829
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.251-2A>G
|
rs1057517219
|
|
NM_000136.3(FANCC):c.251-2A>T
|
|
|
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)
|
rs2136049646
|
|
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
|
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
|
|
|
NM_000136.3(FANCC):c.293_296del (p.Ile98fs)
|
rs754779102
|
|
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer)
|
rs2136048818
|
|
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)
|
rs1830581816
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
|
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
|
rs1825725461
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000136.3(FANCC):c.356_360del (p.Ser119fs)
|
rs1060499606
|
|
NM_000136.3(FANCC):c.357_358del (p.His120fs)
|
rs1588220764
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
NM_000136.3(FANCC):c.381del (p.Phe127fs)
|
rs2135588524
|
|
NM_000136.3(FANCC):c.389_390del (p.Glu130fs)
|
rs1564720605
|
|
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
|
rs1825714345
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
NM_000136.3(FANCC):c.467del (p.Ser156fs)
|
rs1825652623
|
|
NM_000136.3(FANCC):c.485dup (p.Glu163fs)
|
rs1554842611
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
|
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.519del (p.Arg173fs)
|
rs1564719070
|
|
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
|
|
|
NM_000136.3(FANCC):c.574dup (p.Thr192fs)
|
rs2135428096
|
|
NM_000136.3(FANCC):c.595del (p.Leu199fs)
|
rs1057519366
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.612del (p.Ile205fs)
|
|
|
NM_000136.3(FANCC):c.635del (p.Gln212fs)
|
rs2135427018
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
|
|
|
NM_000136.3(FANCC):c.662del (p.Glu221fs)
|
rs1830058898
|
|
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
|
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)
|
rs2136101386
|
|
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)
|
rs2135167716
|
|
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)
|
rs1588134571
|
|
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
|
|
|
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
|
|
|
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter)
|
rs749230615
|
|
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
|
rs1564667865
|
|
NM_000136.3(FANCC):c.863del (p.Pro288fs)
|
rs2134968283
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)
|
rs1831183107
|
|
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
|
|
|
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)
|
rs776529713
|
|
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter)
|
rs2134922671
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
|
|
|
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
|
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996G>A (p.Gln332=)
|
rs1825770865
|
|
NM_000138.5(FBN1):c.3589+1G>A
|
rs1555398501
|
|
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)
|
rs121918495
|
|
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)
|
rs121918490
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)
|
rs1554927408
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)
|
rs1434545235
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)
|
rs121918498
|
|
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)
|
rs387907372
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)
|
rs879253718
|
|
NM_000141.5(FGFR2):c.818_820del (p.Asp273del)
|
rs121918503
|
|
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)
|
rs776587763
|
|
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)
|
rs886037837
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.940-1G>A
|
rs879253719
|
|
NM_000141.5(FGFR2):c.940-2A>C
|
rs1057519041
|
|
NM_000141.5(FGFR2):c.940-2A>G
|
rs1057519041
|
|
NM_000141.5(FGFR2):c.940-3_946delinsACC
|
rs1589828632
|
|
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
|
rs121918504
|
|
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)
|
rs121918510
|
|
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
|
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
|
|
|
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
|
|
|
NM_000192.3:c.(?_-667)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.1033_1034dupGA
|
|
|
NM_000192.3:c.67_81delins
|
|
|
NM_000192.3:c.946C>T
|
|
|
NM_000245.4(MET):c.3701A>G (p.Tyr1234Cys)
|
rs1554400286
|
|
NM_000474.4(TWIST1):c.-18C>T
|
|
|
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)
|
rs1554442082
|
|
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
|
|
|
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
|
|
|
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
|
rs1585617611
|
|
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)
|
rs104894065
|
|
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
|
|
|
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)
|
rs2115396985
|
|
NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
|
rs1585617402
|
|
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
|
|
|
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)
|
rs1563160116
|
|
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)
|
rs1585617240
|
|
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)
|
rs121909186
|
|
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)
|
rs757253926
|
|
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
|
|
|
NM_000474.4(TWIST1):c.321dup (p.Thr108fs)
|
rs1788583845
|
|
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)
|
|
|
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)
|
rs2115396782
|
|
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
|
|
|
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)
|
rs2115396763
|
|
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)
|
rs1554442016
|
|
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)
|
rs104894057
|
|
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
|
rs1585617108
|
|
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)
|
rs121909187
|
|
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)
|
rs121909188
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)
|
rs121909189
|
|
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)
|
rs1554441995
|
|
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)
|
rs1554441992
|
|
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)
|
rs1554441991
|
|
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
|
rs1585617015
|
|
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)
|
rs1554441989
|
|
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)
|
rs1563159980
|
|
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)
|
rs2115396671
|
|
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
|
rs1585616948
|
|
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
|
|
|
NM_000474.4(TWIST1):c.408dup (p.Thr137fs)
|
rs1554441993
|
|
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)
|
rs1788580326
|
|
NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del)
|
rs2115396610
|
|
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
|
rs1788579980
|
|
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
|
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)
|
rs2115396578
|
|
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)
|
rs1563159945
|
|
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)
|
rs104894058
|
|
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs)
|
rs2115397248
|
|
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)
|
rs2115396414
|
|
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
|
rs1585617865
|
|
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
|
|
|
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter)
|
rs104894055
|
|
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)
|
rs1563160337
|
|
NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter)
|
rs104894019
|
|
NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)
|
rs121912542
|
|
NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)
|
rs387906542
|
|
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)
|
rs35861510
|
|
NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter)
|
rs1158254994
|
|
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)
|
rs758247804
|
|
NM_000540.3(RYR1):c.14647-15_14649del
|
rs1599673988
|
|
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)
|
rs1568454672
|
|
NM_000540.3(RYR1):c.5618del (p.Glu1873fs)
|
rs1600783776
|
|
NM_000557.5(GDF5):c.1118T>G (p.Leu373Arg)
|
rs121909349
|
|
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)
|
rs121909350
|
|
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)
|
rs121909351
|
|
NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu)
|
rs74315388
|
|
NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)
|
rs121909347
|
|
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
|
|
|
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
|
|
|
NM_000751.3(CHRND):c.211del (p.Glu71fs)
|
|
|
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)
|
rs2106208285
|
|
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)
|
|
|
NM_000751.3(CHRND):c.2T>C (p.Met1Thr)
|
rs750174953
|
|
NM_000751.3(CHRND):c.316dup (p.Asp106fs)
|
|
|
NM_000751.3(CHRND):c.36del (p.Ala13fs)
|
|
|
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)
|
rs1553574327
|
|
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs)
|
rs1574630951
|
|
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
|
|
|
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)
|
|
|
NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)
|
|
|
NM_000751.3(CHRND):c.820_820+1del
|
rs879255564
|
|
NM_000751.3(CHRND):c.88del (p.Arg30fs)
|
rs1266948051
|
|
NM_000900.5(MGP):c.43del (p.Ala14_Val15insTer)
|
rs730880321
|
|
NM_000900.5(MGP):c.87T>A (p.Tyr29Ter)
|
rs730880322
|
|
NM_000900.5(MGP):c.94+1G>A
|
rs111320759
|
|
NM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala)
|
rs794726865
|
|
NM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn)
|
rs794726864
|
|
NM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser)
|
rs794726864
|
|
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr)
|
rs794726866
|
|
NM_000921.5(PDE3A):c.1340C>T (p.Ala447Val)
|
rs794726867
|
|
NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp)
|
rs794726868
|
|
NM_000921.5(PDE3A):c.1346G>T (p.Gly449Val)
|
rs794726868
|
|
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)
|
rs1554571225
|
|
NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn)
|
rs1554571213
|
|
NM_001003722.1(GLE1):c.100-7_100-3del
|
rs1589040836
|
|
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe)
|
rs1564162129
|
|
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)
|
rs397514735
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
|
|
|
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)
|
rs143585647
|
|
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
|
|
|
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)
|
rs1602006737
|
|
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)
|
rs2147404831
|
|
NM_001018113.3(FANCB):c.1496+5G>A
|
rs1569085810
|
|
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
|
|
|
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)
|
rs1569083679
|
|
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)
|
rs1601977912
|
|
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)
|
rs1601977844
|
|
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)
|
rs1569083464
|
|
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)
|
rs1602006627
|
|
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)
|
rs1569083185
|
|
NM_001018113.3(FANCB):c.2165+1G>T
|
rs1601977379
|
|
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)
|
rs1601976655
|
|
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)
|
rs1601976527
|
|
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
|
|
|
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)
|
rs1602005463
|
|
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)
|
rs2147445599
|
|
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)
|
rs1602005335
|
|
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
|
|
|
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)
|
rs1602005062
|
|
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)
|
rs1161918267
|
|
NM_001018115.1:c.1414_1545del
|
|
|
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
|
|
|
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)
|
rs531943246
|
|
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
|
|
|
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)
|
rs2086921262
|
|
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
|
|
|
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
|
|
|
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)
|
rs2125000318
|
|
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)
|
rs1553608812
|
|
NM_001018115.3(FANCD2):c.1279-1G>A
|
rs1294791314
|
|
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)
|
rs2087073639
|
|
NM_001018115.3(FANCD2):c.1414-69_1545+258del
|
rs2087125303
|
|
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
|
|
|
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)
|
rs1247410343
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
|
|
|
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)
|
rs1221526082
|
|
NM_001018115.3(FANCD2):c.1948-16T>G
|
rs2087653225
|
|
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
|
|
|
NM_001018115.3(FANCD2):c.206-2A>T
|
rs771573600
|
|
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
|
|
|
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
|
|
|
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
|
|
|
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
|
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
|
|
|
NM_001018115.3(FANCD2):c.2160del (p.Gly721fs)
|
rs2125035511
|
|
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
|
|
|
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
|
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
|
|
|
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
|
|
|
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)
|
rs2124974621
|
|
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)
|
rs1374735618
|
|
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
|
|
|
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
|
|
|
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)
|
rs1289665675
|
|
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)
|
rs762544228
|
|
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
|
|
|
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)
|
rs1693433379
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
|
|
|
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
|
|
|
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs)
|
rs1693439048
|
|
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)
|
|
|
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
|
|
|
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
|
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
|
|
|
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
|
|
|
NM_001018115.3(FANCD2):c.2977-2A>G
|
rs1206160345
|
|
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)
|
rs2086516483
|
|
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
|
|
|
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
|
|
|
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
|
|
|
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
|
|
|
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
|
|
|
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
|
|
|
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
|
|
|
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)
|
rs2125060144
|
|
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
|
|
|
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
|
|
|
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
|
|
|
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
|
|
|
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
|
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
|
rs1559403654
|
|
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
|
|
|
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)
|
rs2125076610
|
|
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
|
|
|
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
|
|
|
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
|
|
|
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)
|
rs1694376599
|
|
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)
|
rs1694404041
|
|
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
|
|
|
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
|
|
|
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)
|
rs771078251
|
|
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
|
|
|
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
|
rs757499508
|
|
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
|
|
|
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
|
|
|
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)
|
rs148471911
|
|
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
|
|
|
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
|
|
|
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)
|
rs954149471
|
|
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
|
|
|
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs)
|
rs1553607671
|
|
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
|
|
|
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)
|
rs2086819957
|
|
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
|
|
|
NM_001018115.3(FANCD2):c.696-121C>G
|
rs2086862509
|
|
NM_001018115.3(FANCD2):c.696-2A>T
|
rs2086865333
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
|
|
|
NM_001018115.3(FANCD2):c.775del (p.Leu259fs)
|
rs2124989402
|
|
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)
|
rs748327074
|
|
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
|
|
|
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)
|
rs121917788
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
|
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)
|
rs1554112524
|
|
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)
|
rs772470710
|
|
NM_001042616.2(PIGY):c.-540G>A
|
rs869025323
|
|
NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro)
|
rs869025322
|
|
NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter)
|
rs1064797092
|
|
NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys)
|
|
|
NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe)
|
|
|
NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)
|
|
|
NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)
|
|
|
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)
|
rs1057521117
|
|
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
|
|
|
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
|
|
|
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
|
|
|
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
|
|
|
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg)
|
rs146040966
|
|
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
|
|
|
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)
|
rs2151549770
|
|
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151580463
|
|
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
|
rs2053682638
|
|
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
|
|
|
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
|
|
|
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
|
|
|
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
|
|
|
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
|
|
|
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
|
|
|
NM_001113378.2(FANCI):c.2029del (p.Trp677fs)
|
rs2151724213
|
|
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
|
|
|
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
|
|
|
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
|
|
|
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg)
|
rs2054124504
|
|
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
|
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
|
|
|
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
|
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)
|
rs2151740576
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
|
|
|
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
|
|
|
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr)
|
rs1361710673
|
|
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
|
|
|
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
|
|
|
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
|
|
|
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
|
|
|
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
|
|
|
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
|
|
|
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
|
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)
|
rs2052048258
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
|
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
|
|
|
NM_001113378.2(FANCI):c.3350-88A>G
|
rs2054700381
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs)
|
rs2054707218
|
|
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)
|
rs2151924296
|
|
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
|
|
|
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile)
|
rs757106031
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)
|
rs1567175626
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
|
|
|
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)
|
rs1596336945
|
|
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
|
|
|
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
|
|
|
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)
|
rs1060501900
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
|
|
|
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
|
|
|
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)
|
rs121918163
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs)
|
rs2055186253
|
|
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter)
|
rs544848412
|
|
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)
|
rs2055264556
|
|
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
|
|
|
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
|
|
|
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)
|
rs878854181
|
|
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
|
|
|
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
|
|
|
NM_001113378.2(FANCI):c.756-25_756-19del
|
rs2053061271
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
|
rs2053066105
|
|
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001113525.2(ZNF276):c.*465G>C
|
rs765478990
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
NM_001114980.2(TP63):c.16A>C (p.Asn6His)
|
rs113993963
|
|
NM_001164508.2(NEB):c.1015del (p.Ala339fs)
|
rs2150017687
|
|
NM_001164508.2(NEB):c.10872+1G>T
|
rs1336053002
|
|
NM_001164508.2(NEB):c.11289+1G>A
|
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.12048_12049del (p.Lys4017fs)
|
rs2153972327
|
|
NM_001164508.2(NEB):c.12639+1G>A
|
rs2097758221
|
|
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)
|
rs2153939368
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)
|
|
|
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)
|
rs1553601066
|
|
NM_001164508.2(NEB):c.18211del (p.Asp6071fs)
|
rs997878946
|
|
NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter)
|
rs374874999
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.19102-1G>T
|
rs2153702473
|
|
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)
|
rs2153657682
|
|
NM_001164508.2(NEB):c.20158-6A>G
|
rs1553715636
|
|
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
|
|
|
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)
|
rs753192734
|
|
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
|
|
|
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)
|
rs2152991690
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)
|
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24687_24688del (p.Asn8230fs)
|
rs1559154278
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)
|
rs777232352
|
|
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)
|
rs2055484249
|
|
NM_001164508.2(NEB):c.2836-2A>G
|
rs1208297049
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.6496-1G>A
|
|
|
NM_001164508.2(NEB):c.739del (p.Ala247fs)
|
rs2150350376
|
|
NM_001164508.2(NEB):c.7431+1919_7536+374del
|
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)
|
rs762881892
|
|
NM_001164508.2(NEB):c.8890-2A>G
|
|
|
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)
|
rs1301228529
|
|
NM_001193315.2(VIPAS39):c.1179+1G>A
|
rs1594895847
|
|
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter)
|
rs1555364979
|
|
NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer)
|
rs2139895315
|
|
NM_001193315.2(VIPAS39):c.20del (p.Asp7fs)
|
rs1594929571
|
|
NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)
|
rs267607172
|
|
NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter)
|
rs267607173
|
|
NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs)
|
rs794726653
|
|
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)
|
|
|
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter)
|
rs267607171
|
|
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter)
|
rs727503777
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)
|
rs746994660
|
|
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
|
|
|
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)
|
rs778054296
|
|
NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter)
|
rs1389098934
|
|
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)
|
rs1553941890
|
|
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
|
|
|
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
|
|
|
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
|
|
|
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
|
|
|
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs)
|
rs1164577355
|
|
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg)
|
rs2147448693
|
|
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
|
|
|
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly)
|
rs397515428
|
|
NM_001278.5(CHUK):c.934-2A>G
|
rs2134229666
|
|
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)
|
rs587776994
|
|
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)
|
|
|
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)
|
rs1247059195
|
|
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser)
|
rs587776993
|
|
NM_001278689.2(EOGT):c.78_81del (p.His27fs)
|
rs771160630
|
|
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)
|
rs1603251001
|
|
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)
|
rs2143821228
|
|
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)
|
rs1603251494
|
|
NM_001330677.2(TBX15):c.1348del (p.Ile450fs)
|
rs2101422204
|
|
NM_001330677.2(TBX15):c.1350del (p.Pro451fs)
|
rs2101422164
|
|
NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn)
|
|
|
NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro)
|
rs587777733
|
|
NM_001346754.2(PIGW):c.462A>T (p.Arg154Ser)
|
|
|
NM_001346754.2(PIGW):c.499A>G (p.Met167Val)
|
rs200024253
|
|
NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser)
|
|
|
NM_001361.5(DHODH):c.248_261del (p.Leu83fs)
|
rs776973679
|
|
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu)
|
rs267606765
|
|
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)
|
rs267606767
|
|
NM_001361.5(DHODH):c.611del (p.Leu204fs)
|
rs1215488320
|
|
NM_001374353.1(GLI2):c.1138G>T (p.Glu380Ter)
|
rs374155310
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_001374353.1(GLI2):c.1555G>T (p.Glu519Ter)
|
rs1682776554
|
|
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)
|
rs1388607733
|
|
NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)
|
|
|
NM_001374353.1(GLI2):c.2030_2033del (p.Leu677fs)
|
rs587777456
|
|
NM_001374353.1(GLI2):c.2263del (p.Ser755fs)
|
rs1553478423
|
|
NM_001374353.1(GLI2):c.2283del (p.Ala763fs)
|
rs2105084620
|
|
NM_001374353.1(GLI2):c.2302_2306dup (p.Arg770fs)
|
|
|
NM_001374353.1(GLI2):c.2311_2317del (p.Leu771fs)
|
rs587777455
|
|
NM_001374353.1(GLI2):c.2454del (p.Ser819fs)
|
|
|
NM_001374353.1(GLI2):c.2509_2510del (p.Ser837fs)
|
|
|
NM_001374353.1(GLI2):c.2651del (p.Pro884fs)
|
|
|
NM_001374353.1(GLI2):c.322del (p.Ala108fs)
|
rs1553471273
|
|
NM_001374353.1(GLI2):c.3523C>T (p.Gln1175Ter)
|
|
|
NM_001374353.1(GLI2):c.3567del (p.Gln1189fs)
|
rs1683179008
|
|
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
|
|
|
NM_001374353.1(GLI2):c.49del (p.Ser17fs)
|
rs2104696745
|
|
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)
|
rs1681993062
|
|
NM_001374353.1(GLI2):c.9dup (p.Ser4fs)
|
|
|
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)
|
rs1568069621
|
|
NM_001378183.1(PIEZO2):c.1549_1550insC (p.Ser517fs)
|
|
|
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs)
|
rs1057519426
|
|
NM_001378183.1(PIEZO2):c.1882+1G>A
|
|
|
NM_001378183.1(PIEZO2):c.1924G>T (p.Glu642Ter)
|
rs1598482405
|
|
NM_001378183.1(PIEZO2):c.2073C>A (p.Cys691Ter)
|
|
|
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)
|
rs587777453
|
|
NM_001378183.1(PIEZO2):c.2170-2A>C
|
rs1598479779
|
|
NM_001378183.1(PIEZO2):c.2372T>A (p.Ile791Lys)
|
rs2144117079
|
|
NM_001378183.1(PIEZO2):c.2404A>T (p.Ile802Phe)
|
rs587777076
|
|
NM_001378183.1(PIEZO2):c.2724_2734del (p.Ser908fs)
|
rs2144002337
|
|
NM_001378183.1(PIEZO2):c.2783C>G (p.Ser928Ter)
|
rs886039824
|
|
NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr)
|
rs878853140
|
|
NM_001378183.1(PIEZO2):c.3095_3105del (p.Pro1032fs)
|
rs1057519626
|
|
NM_001378183.1(PIEZO2):c.3487C>T (p.Arg1163Ter)
|
rs1203151992
|
|
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)
|
|
|
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter)
|
rs886039822
|
|
NM_001378183.1(PIEZO2):c.5079dup (p.Asp1694fs)
|
rs2143913299
|
|
NM_001378183.1(PIEZO2):c.5228G>C (p.Arg1743Pro)
|
rs886039823
|
|
NM_001378183.1(PIEZO2):c.5257-1G>A
|
rs1555630216
|
|
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs)
|
rs1057519425
|
|
NM_001378183.1(PIEZO2):c.6234G>A (p.Trp2078Ter)
|
rs1555627917
|
|
NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs)
|
rs2035219369
|
|
NM_001378183.1(PIEZO2):c.6828-8_6829del
|
rs1567958264
|
|
NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)
|
rs878853139
|
|
NM_001378183.1(PIEZO2):c.7007C>T (p.Ser2336Leu)
|
rs878853138
|
|
NM_001378183.1(PIEZO2):c.704-2A>G
|
rs2144694433
|
|
NM_001378183.1(PIEZO2):c.7186G>T (p.Glu2396Ter)
|
|
|
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met)
|
rs878853137
|
|
NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter)
|
rs2034210482
|
|
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)
|
rs587777451
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln)
|
rs587777452
|
|
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro)
|
rs587777452
|
|
NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu)
|
rs587777452
|
|
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)
|
rs1555621138
|
|
NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs)
|
rs878853135
|
|
NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro)
|
rs587777454
|
|
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer)
|
rs724159993
|
|
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)
|
rs1064797002
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001379291.1(BRD4):c.1224delinsCA (p.Glu408fs)
|
|
|
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
|
|
|
NM_001379291.1(BRD4):c.2753_2754insT (p.Pro919fs)
|
|
|
NM_001379291.1(BRD4):c.4020+1G>A
|
rs2145497734
|
|
NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)
|
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.3:c.4271_4367del
|
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.108_111del (p.Phe37fs)
|
|
|
NM_001429.4(EP300):c.1423dup (p.Tyr475fs)
|
rs2145715677
|
|
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
|
rs1601610306
|
|
NM_001429.4(EP300):c.1729del (p.Gln577fs)
|
|
|
NM_001429.4(EP300):c.1814dup (p.Met605fs)
|
|
|
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter)
|
rs137853039
|
|
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
|
rs1601613391
|
|
NM_001429.4(EP300):c.2164dup (p.Gln722fs)
|
rs879253873
|
|
NM_001429.4(EP300):c.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
NM_001429.4(EP300):c.2333dup (p.Asn779fs)
|
rs2145736063
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.2734C>T (p.Gln912Ter)
|
|
|
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs)
|
rs1569108381
|
|
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
|
|
|
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter)
|
rs1555909666
|
|
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer)
|
rs2059050320
|
|
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)
|
rs1601621506
|
|
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)
|
rs1555909697
|
|
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)
|
rs886041830
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
NM_001429.4(EP300):c.3262-2A>G
|
rs1555910114
|
|
NM_001429.4(EP300):c.3367del (p.Met1124fs)
|
rs1601624722
|
|
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
|
rs1601624754
|
|
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter)
|
rs1601624790
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs)
|
|
|
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs)
|
rs1555910482
|
|
NM_001429.4(EP300):c.3684del (p.Glu1229fs)
|
rs2145754777
|
|
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)
|
rs1601628237
|
|
NM_001429.4(EP300):c.3728+5G>C
|
rs1114167305
|
|
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs)
|
rs2145759333
|
|
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs)
|
|
|
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)
|
rs2059152743
|
|
NM_001429.4(EP300):c.4026-9A>G
|
rs2059153923
|
|
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter)
|
rs886043598
|
|
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)
|
rs1440862488
|
|
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs)
|
rs2059154269
|
|
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer)
|
rs2145765098
|
|
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
|
rs1601634247
|
|
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
|
|
|
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
|
|
|
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys)
|
rs1114167306
|
|
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter)
|
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
NM_001429.4(EP300):c.4595del (p.Asn1532fs)
|
|
|
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
|
rs1057521737
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.4785del (p.Phe1596fs)
|
rs2145512052
|
|
NM_001429.4(EP300):c.4826_4833dup (p.Ile1612fs)
|
rs2145512343
|
|
NM_001429.4(EP300):c.4836dup (p.Val1613fs)
|
rs797045559
|
|
NM_001429.4(EP300):c.4873del (p.Asp1625fs)
|
rs2145512676
|
|
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)
|
rs139310551
|
|
NM_001429.4(EP300):c.4947dup (p.Ser1650fs)
|
|
|
NM_001429.4(EP300):c.494_497del (p.Met165fs)
|
rs1601598354
|
|
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)
|
rs1555912040
|
|
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)
|
|
|
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)
|
rs1601640102
|
|
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)
|
|
|
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
|
rs1601640370
|
|
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
|
rs2058829252
|
|
NM_001429.4(EP300):c.5880dup (p.Pro1961fs)
|
|
|
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)
|
|
|
NM_001429.4(EP300):c.6101del (p.Gly2034fs)
|
rs2145519321
|
|
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)
|
|
|
NM_001429.4(EP300):c.6323del (p.Gln2108fs)
|
|
|
NM_001429.4(EP300):c.638del (p.Gly213fs)
|
rs1569090642
|
|
NM_001429.4(EP300):c.650dup (p.Asn217fs)
|
rs2145697647
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6739dup (p.Gln2247fs)
|
|
|
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
NM_001429.4(EP300):c.70_71del (p.Ser24fs)
|
rs1555902247
|
|
NM_001429.4(EP300):c.7100del (p.Pro2367fs)
|
rs1569122847
|
|
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs)
|
rs1057519375
|
|
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
|
rs1601642812
|
|
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del)
|
rs876661318
|
|
NM_001429.4(EP300):c.832del (p.Thr278fs)
|
rs2058879988
|
|
NM_001429.4:c.730_1760del
|
|
|
NM_001793.6(CDH3):c.830del (p.Gly277fs)
|
rs724159985
|
|
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile)
|
rs121434543
|
|
NM_001982.4(ERBB3):c.1184-9A>G
|
rs1565859132
|
|
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)
|
rs137852826
|
|
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)
|
rs863223599
|
|
NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)
|
|
|
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)
|
rs1581230766
|
|
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
|
|
|
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)
|
rs137852827
|
|
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)
|
rs137852828
|
|
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)
|
rs1206843725
|
|
NM_001999.4(FBN2):c.3472+2T>C
|
rs2126903614
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
|
rs1750894751
|
|
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
|
|
|
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
|
rs863223567
|
|
NM_001999.4(FBN2):c.3598+6T>G
|
|
|
NM_001999.4(FBN2):c.3725-15A>G
|
rs587776519
|
|
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)
|
rs137852825
|
|
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)
|
rs28931602
|
|
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
|
rs1750812513
|
|
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
|
|
|
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)
|
rs267606802
|
|
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)
|
rs1581223990
|
|
NM_001999.4(FBN2):c.3974-26T>G
|
rs2126895611
|
|
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
|
rs1750792792
|
|
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)
|
rs794727560
|
|
NM_001999.4(FBN2):c.4222+5G>A
|
rs1554122550
|
|
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)
|
rs147046215
|
|
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)
|
rs1060503510
|
|
NM_001999.4(FBN2):c.4346-2A>G
|
rs587776518
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
|
|
|
NM_001999.4(FBN2):c.4592_4594+3del
|
rs2126854512
|
|
NM_001999.4(FBN2):c.533-1G>C
|
rs1756369186
|
|
NM_001999.4(FBN2):c.5917+5G>A
|
rs1561758622
|
|
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
|
rs1749713036
|
|
NM_001999.4(FBN2):c.827-2A>G
|
rs1561461125
|
|
NM_002010.3(FGF9):c.184A>G (p.Arg62Gly)
|
rs1555223925
|
|
NM_002010.3(FGF9):c.296G>A (p.Ser99Asn)
|
rs121918322
|
|
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
|
|
|
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn)
|
rs267607224
|
|
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro)
|
rs267607223
|
|
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn)
|
rs267607220
|
|
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
|
|
|
NM_002334.4(LRP4):c.200-9G>A
|
rs1565801326
|
|
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)
|
rs1565790767
|
|
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
|
|
|
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)
|
rs1218582533
|
|
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)
|
rs1565785959
|
|
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)
|
rs267607222
|
|
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
|
|
|
NM_002334.4(LRP4):c.4959C>G (p.Gly1653=)
|
rs2134775125
|
|
NM_002334.4(LRP4):c.547+1G>A
|
rs762425885
|
|
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His)
|
rs387906658
|
|
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)
|
rs121913621
|
|
NM_002470.4(MYH3):c.1141+131_3256del
|
|
|
NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys)
|
rs1567559027
|
|
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)
|
rs121913622
|
|
NM_002470.4(MYH3):c.1411-391_1411-219del
|
rs1567558314
|
|
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)
|
rs1567564042
|
|
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser)
|
rs1597488038
|
|
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)
|
rs771300756
|
|
NM_002470.4(MYH3):c.2014C>T (p.Arg672Cys)
|
rs121913618
|
|
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)
|
rs121913617
|
|
NM_002470.4(MYH3):c.2045C>A (p.Pro682Gln)
|
rs2142402072
|
|
NM_002470.4(MYH3):c.2103G>C (p.Glu701Asp)
|
rs2142401800
|
|
NM_002470.4(MYH3):c.2474T>A (p.Val825Asp)
|
rs121913620
|
|
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)
|
rs2142400070
|
|
NM_002470.4(MYH3):c.2590_2592del (p.Leu864del)
|
rs879255230
|
|
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)
|
rs878853126
|
|
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro)
|
rs796051884
|
|
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)
|
rs1567553806
|
|
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
|
|
|
NM_002470.4(MYH3):c.4647+1G>A
|
rs1567552713
|
|
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)
|
rs121913619
|
|
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)
|
rs1555527166
|
|
NM_002470.4(MYH3):c.859T>G (p.Phe287Val)
|
rs1567560080
|
|
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)
|
rs1567559562
|
|
NM_002478.5(MYOD1):c.557dup (p.Arg188fs)
|
rs1179926739
|
|
NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)
|
rs1567568217
|
|
NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)
|
rs776532930
|
|
NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)
|
rs121909109
|
|
NM_002653.5(PITX1):c.765_799del (p.Ala256fs)
|
rs730882191
|
|
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)
|
rs1895530875
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_002968.3(SALL1):c.1027dup (p.Ile343fs)
|
rs2143448046
|
|
NM_002968.3(SALL1):c.1028dup (p.Leu344fs)
|
rs2143448019
|
|
NM_002968.3(SALL1):c.1108_1109del (p.Val370fs)
|
rs1085307143
|
|
NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter)
|
rs104894535
|
|
NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)
|
rs104894535
|
|
NM_002968.3(SALL1):c.1148del (p.Leu383fs)
|
|
|
NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)
|
|
|
NM_002968.3(SALL1):c.1214dup (p.Leu406fs)
|
rs1555475275
|
|
NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)
|
|
|
NM_002968.3(SALL1):c.1240G>T (p.Glu414Ter)
|
|
|
NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter)
|
rs137853084
|
|
NM_002968.3(SALL1):c.1270del (p.Gln424fs)
|
rs1597230349
|
|
NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs)
|
rs1597230341
|
|
NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)
|
|
|
NM_002968.3(SALL1):c.1324del (p.Ser442fs)
|
rs1597230288
|
|
NM_002968.3(SALL1):c.1347_1348del (p.His449fs)
|
rs1597230241
|
|
NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)
|
rs2143446286
|
|
NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)
|
rs1962410902
|
|
NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)
|
|
|
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs)
|
rs2143446012
|
|
NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)
|
rs1197587893
|
|
NM_002968.3(SALL1):c.2256del (p.Tyr753fs)
|
rs1555475120
|
|
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)
|
|
|
NM_002968.3(SALL1):c.2356del (p.Arg786fs)
|
rs1555475106
|
|
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)
|
rs1597228568
|
|
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs)
|
rs1597228188
|
|
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)
|
|
|
NM_002968.3(SALL1):c.420del (p.Ser141fs)
|
rs1962442258
|
|
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)
|
|
|
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)
|
rs2143450145
|
|
NM_002968.3(SALL1):c.691del (p.Glu231fs)
|
rs2143449682
|
|
NM_002968.3(SALL1):c.709C>T (p.Gln237Ter)
|
rs2143449624
|
|
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)
|
rs1567316325
|
|
NM_002968.3(SALL1):c.750dup (p.Arg251fs)
|
rs1962428520
|
|
NM_002968.3(SALL1):c.76+5G>A
|
|
|
NM_002968.3(SALL1):c.792_793del (p.Leu264fs)
|
rs1597230909
|
|
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter)
|
rs1555475342
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_002968.3(SALL1):c.866T>A (p.Leu289Ter)
|
rs1555475334
|
|
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)
|
rs886041236
|
|
NM_002968.3(SALL1):c.870dup (p.Gln291fs)
|
rs2143448859
|
|
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)
|
rs1962424706
|
|
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
|
|
|
NM_002968.3(SALL1):c.878_887del (p.Leu293fs)
|
|
|
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs)
|
rs2143448771
|
|
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
|
rs864621971
|
|
NM_002968.3(SALL1):c.953del (p.Pro318fs)
|
|
|
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter)
|
rs1555475319
|
|
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)
|
rs104894538
|
|
NM_002968.3(SALL1):c.995del (p.Pro332fs)
|
rs1597230687
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe)
|
rs1589797063
|
|
NM_003282.4(TNNI2):c.496GAG[1] (p.Glu167del)
|
rs199474800
|
|
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
|
rs104894311
|
|
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)
|
rs199474801
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)
|
rs137853306
|
|
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)
|
rs199476146
|
|
NM_003289.4(TPM2):c.220del (p.Ala74fs)
|
|
|
NM_003289.4(TPM2):c.271C>G (p.Arg91Gly)
|
rs104894127
|
|
NM_003289.4(TPM2):c.308A>G (p.Gln103Arg)
|
rs1563929383
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
NM_003289.4(TPM2):c.374+2T>C
|
rs113612402
|
|
NM_003289.4(TPM2):c.394_396dup (p.Asn132dup)
|
rs2131852702
|
|
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)
|
rs137853305
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)
|
rs1563929039
|
|
NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln)
|
rs1587956195
|
|
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)
|
rs1465836003
|
|
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)
|
rs1824676022
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
|
rs80356546
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003632.2(CNTNAP1):c.[1869G>A];[967T>C]
|
|
|
NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)
|
rs1555642784
|
|
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)
|
rs1567973091
|
|
NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp)
|
rs757375034
|
|
NM_003632.3(CNTNAP1):c.2993-1_2995del
|
rs786204800
|
|
NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter)
|
rs786204799
|
|
NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs)
|
rs2053168326
|
|
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)
|
rs1597802927
|
|
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)
|
rs113993966
|
|
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)
|
rs113993967
|
|
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)
|
rs886041251
|
|
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)
|
rs121908841
|
|
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg)
|
rs121908837
|
|
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)
|
rs797044484
|
|
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)
|
rs121908844
|
|
NM_003722.5(TP63):c.1350-75_1492del
|
rs1577195893
|
|
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)
|
rs121908845
|
|
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe)
|
rs121908842
|
|
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly)
|
rs121908843
|
|
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)
|
rs2108864810
|
|
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
|
|
|
NM_003722.5(TP63):c.740A>G (p.His247Arg)
|
rs864621968
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
NM_003722.5(TP63):c.797G>C (p.Arg266Pro)
|
rs121908849
|
|
NM_003722.5(TP63):c.953G>A (p.Arg318His)
|
rs121908840
|
|
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)
|
rs121908839
|
|
NM_004006.2:g.(?_89845141)_(89858973_?)del
|
|
|
NM_004247.4(EFTUD2):c.1058+1G>A
|
rs1085307647
|
|
NM_004247.4(EFTUD2):c.106-1G>C
|
rs2051181820
|
|
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)
|
rs996949678
|
|
NM_004247.4(EFTUD2):c.1149+1G>C
|
rs797045550
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)
|
rs2050697632
|
|
NM_004247.4(EFTUD2):c.1414-2A>G
|
rs1597797917
|
|
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
|
|
|
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)
|
rs1555565774
|
|
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
|
|
|
NM_004247.4(EFTUD2):c.1719+1G>A
|
rs2145460853
|
|
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter)
|
rs1057520673
|
|
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs)
|
rs879253725
|
|
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)
|
rs1135401812
|
|
NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)
|
|
|
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg)
|
rs387906879
|
|
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
|
rs1555564341
|
|
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)
|
rs2145438293
|
|
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter)
|
rs879253726
|
|
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter)
|
rs879253727
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
NM_004247.4(EFTUD2):c.2562-2del
|
rs2145431661
|
|
NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)
|
rs2050473924
|
|
NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)
|
|
|
NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
|
|
|
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)
|
rs886039349
|
|
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)
|
rs387906878
|
|
NM_004247.4(EFTUD2):c.2823+1del
|
rs879253728
|
|
NM_004247.4(EFTUD2):c.378del (p.Glu127fs)
|
rs2051113996
|
|
NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
|
|
|
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
|
|
|
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
|
|
|
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
|
|
|
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)
|
rs397515431
|
|
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)
|
rs2051032338
|
|
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)
|
rs794729651
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
NM_004247.4(EFTUD2):c.882del (p.Asp295fs)
|
rs1597807512
|
|
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)
|
rs1060501383
|
|
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)
|
rs137853230
|
|
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)
|
rs137853231
|
|
NM_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
|
|
|
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)
|
rs1567386034
|
|
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
|
rs1596948052
|
|
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)
|
rs1567318022
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
|
|
|
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
|
rs121434625
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
|
rs1596947743
|
|
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
|
rs1596947732
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1216+2T>A
|
rs1596947522
|
|
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
|
rs1596944340
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)
|
rs1567316655
|
|
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
|
|
|
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)
|
rs2053306001
|
|
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs)
|
rs2053305017
|
|
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)
|
rs1555484797
|
|
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)
|
rs1596920745
|
|
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
|
|
|
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
|
rs1596920501
|
|
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)
|
rs1567309482
|
|
NM_004380.3(CREBBP):c.1573+1G>A
|
rs1596920360
|
|
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
|
rs587783465
|
|
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
|
|
|
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)
|
rs398124138
|
|
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
|
rs1596917200
|
|
NM_004380.3(CREBBP):c.1663del (p.Leu555fs)
|
rs2053266530
|
|
NM_004380.3(CREBBP):c.1676+2_1676+5del
|
rs2141247044
|
|
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)
|
rs1596916327
|
|
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
|
rs1597054837
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
NM_004380.3(CREBBP):c.1824-1G>A
|
rs1596910004
|
|
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
|
rs1596909915
|
|
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
|
|
|
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
|
rs1596909791
|
|
NM_004380.3(CREBBP):c.1911del (p.Asp639fs)
|
rs2141237372
|
|
NM_004380.3(CREBBP):c.1917dup (p.Met640fs)
|
rs1567306142
|
|
NM_004380.3(CREBBP):c.1941+1G>A
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+1G>T
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+2T>C
|
rs1596909656
|
|
NM_004380.3(CREBBP):c.1941+5G>A
|
rs2053202354
|
|
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)
|
rs2053190428
|
|
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer)
|
rs1596908213
|
|
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
|
|
|
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
|
rs587783469
|
|
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
NM_004380.3(CREBBP):c.2159-1G>T
|
rs1596897799
|
|
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
|
rs797045483
|
|
NM_004380.3(CREBBP):c.2233del (p.Ser745fs)
|
rs2053092574
|
|
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)
|
rs1057520652
|
|
NM_004380.3(CREBBP):c.2322del (p.Asn774fs)
|
rs1596895545
|
|
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
|
rs1596895500
|
|
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)
|
rs2141214738
|
|
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
|
rs1597054662
|
|
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
|
rs1596894889
|
|
NM_004380.3(CREBBP):c.2464-6T>A
|
rs2052993184
|
|
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
|
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
|
rs2141203402
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
|
rs1596886295
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)
|
rs1596886183
|
|
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
|
rs1596886132
|
|
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
|
rs1596886048
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
NM_004380.3(CREBBP):c.2794del (p.Thr932fs)
|
rs2052980008
|
|
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
|
|
|
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
|
rs797045485
|
|
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
|
rs1596885894
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
|
|
|
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
|
rs1596885651
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
|
rs1596882629
|
|
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
|
rs1374436403
|
|
NM_004380.3(CREBBP):c.299del (p.Gly100fs)
|
rs587783477
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
|
rs1596882124
|
|
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
|
rs1596882010
|
|
NM_004380.3(CREBBP):c.3060+1G>T
|
rs1596882004
|
|
NM_004380.3(CREBBP):c.3061-1G>T
|
rs1555481030
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
|
rs1596878921
|
|
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
|
|
|
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs)
|
rs1597054430
|
|
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
|
rs1596878700
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
|
|
|
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
|
rs1596856390
|
|
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
|
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
|
rs1596856285
|
|
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
|
rs1596856176
|
|
NM_004380.3(CREBBP):c.3369+1G>A
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1del
|
rs2151385509
|
|
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
|
|
|
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)
|
rs2151383792
|
|
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
|
rs1596854369
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
|
rs797045491
|
|
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
|
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs)
|
rs2052622209
|
|
NM_004380.3(CREBBP):c.3610-1G>A
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-1G>C
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-2A>G
|
rs1596852674
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs)
|
rs2052610724
|
|
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
|
rs1596852463
|
|
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
|
rs1596852443
|
|
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs)
|
rs2151381815
|
|
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
|
rs748451307
|
|
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
|
|
|
NM_004380.3(CREBBP):c.36del (p.Arg14fs)
|
rs2055490682
|
|
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
|
|
|
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
|
rs1597054242
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
|
rs1596834998
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3836+1G>C
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3837-2A>T
|
rs1567277287
|
|
NM_004380.3(CREBBP):c.3914+1G>A
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs)
|
rs1567276741
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)
|
rs121434624
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
|
rs1596813570
|
|
NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
|
|
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
|
rs1596812306
|
|
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
|
rs1596812256
|
|
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs)
|
rs1555473668
|
|
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
|
|
|
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
|
rs1596812202
|
|
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
|
|
|
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)
|
rs2151334254
|
|
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)
|
rs1555473491
|
|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)
|
rs2151330140
|
|
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
|
rs2052073167
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
|
|
|
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)
|
rs199817036
|
|
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
|
|
|
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
|
rs2052070776
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)
|
rs1596805575
|
|
NM_004380.3(CREBBP):c.4561-1G>A
|
rs2151327974
|
|
NM_004380.3(CREBBP):c.4561-2A>T
|
rs2151327978
|
|
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
|
|
|
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)
|
rs1555472938
|
|
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
|
|
|
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)
|
rs1567269316
|
|
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)
|
rs1555472931
|
|
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)
|
rs778375586
|
|
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs)
|
rs2151327706
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
|
|
NM_004380.3(CREBBP):c.4728+2del
|
rs1596803811
|
|
NM_004380.3(CREBBP):c.472del (p.Gln158fs)
|
rs1555496581
|
|
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
|
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)
|
rs2055490250
|
|
NM_004380.3(CREBBP):c.4890+1G>A
|
rs1596793242
|
|
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs)
|
rs2151317319
|
|
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.49del (p.Leu17fs)
|
rs2055490182
|
|
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)
|
rs1555471874
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)
|
rs2051909999
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)
|
rs1555496560
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)
|
rs146718571
|
|
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
|
|
|
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs)
|
rs2151311901
|
|
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)
|
rs2151309803
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
|
|
|
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)
|
rs1567263114
|
|
NM_004380.3(CREBBP):c.567del (p.Asn190fs)
|
rs2054809165
|
|
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
|
|
|
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)
|
rs1555471323
|
|
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)
|
rs2151308835
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)
|
rs2151308298
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.581del (p.Gly194fs)
|
rs2141491677
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
|
rs1596786167
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
|
|
|
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
|
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
|
rs2051830234
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
|
|
|
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
|
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
|
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs)
|
rs2051819669
|
|
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)
|
rs1596783639
|
|
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
|
|
|
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
|
|
|
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
|
rs1597053322
|
|
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
|
|
|
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
|
|
|
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)
|
rs2053923868
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
|
|
|
NM_004380.3(CREBBP):c.85+2T>G
|
|
|
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
|
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
|
rs1596984633
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|
NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys)
|
rs397514666
|
|
NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp)
|
rs879255548
|
|
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)
|
rs387907231
|
|
NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp)
|
rs397514643
|
|
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)
|
rs104893835
|
|
NM_004625.4:c.(71+1_72-1)_(298+1_299-1)del
|
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)
|
rs2131055405
|
|
NM_004629.2(FANCG):c.1008dup (p.Pro337fs)
|
rs1829086026
|
|
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)
|
rs2131055360
|
|
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)
|
rs745928033
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
|
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1143+5G>A
|
rs778328620
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
NM_004629.2(FANCG):c.1144-1G>C
|
rs755363896
|
|
NM_004629.2(FANCG):c.1144-2A>G
|
|
|
NM_004629.2(FANCG):c.1158del (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
|
|
|
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter)
|
rs748730134
|
|
NM_004629.2(FANCG):c.1216del (p.Gln406fs)
|
rs758423821
|
|
NM_004629.2(FANCG):c.1216dup (p.Gln406fs)
|
rs758423821
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs)
|
rs2131054083
|
|
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
|
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)
|
rs2131053943
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
|
|
|
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
|
|
|
NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter)
|
rs2131053417
|
|
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
|
|
|
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
|
|
|
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
|
|
|
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
|
|
|
NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter)
|
rs2131053086
|
|
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)
|
rs1829056657
|
|
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter)
|
rs1829055945
|
|
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu)
|
rs1829055917
|
|
NM_004629.2(FANCG):c.156dup (p.Leu53fs)
|
rs863224506
|
|
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter)
|
rs1461242610
|
|
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer)
|
rs753485145
|
|
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)
|
rs1157985962
|
|
NM_004629.2(FANCG):c.1593del (p.Ala533fs)
|
rs761519737
|
|
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
|
|
|
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
|
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg)
|
rs766086210
|
|
NM_004629.2(FANCG):c.1649del (p.Thr550fs)
|
rs1829042768
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)
|
rs2131051951
|
|
NM_004629.2(FANCG):c.1653del (p.His553fs)
|
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
NM_004629.2(FANCG):c.1749del (p.Asp584fs)
|
rs1829040508
|
|
NM_004629.2(FANCG):c.1761-1G>A
|
rs1829035889
|
|
NM_004629.2(FANCG):c.1761-1G>C
|
rs1829035889
|
|
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe)
|
rs1420316004
|
|
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)
|
rs746392434
|
|
NM_004629.2(FANCG):c.179del (p.Leu60fs)
|
rs1829130643
|
|
NM_004629.2(FANCG):c.182del (p.Pro61fs)
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.214_217del (p.Thr72fs)
|
rs747660501
|
|
NM_004629.2(FANCG):c.21dup (p.Val8fs)
|
|
|
NM_004629.2(FANCG):c.244dup (p.Ala82fs)
|
rs1829129696
|
|
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)
|
rs1829129603
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.307+2del
|
rs1829128546
|
|
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter)
|
rs1829123346
|
|
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter)
|
rs2131058553
|
|
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
|
|
|
NM_004629.2(FANCG):c.395dup (p.Pro133fs)
|
rs2131058481
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
NM_004629.2(FANCG):c.560del (p.Pro187fs)
|
rs2131057213
|
|
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter)
|
rs1829104194
|
|
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
|
rs755361015
|
|
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
|
|
|
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)
|
rs1449918930
|
|
NM_004629.2(FANCG):c.619del (p.Leu207fs)
|
|
|
NM_004629.2(FANCG):c.620del (p.Leu207fs)
|
rs753727461
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
|
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro)
|
rs1829144428
|
|
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
|
|
|
NM_004629.2(FANCG):c.689del (p.Ser230fs)
|
rs2131056614
|
|
NM_004629.2(FANCG):c.692del (p.Ser231fs)
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)
|
rs2131060266
|
|
NM_004629.2(FANCG):c.778-1G>C
|
rs767518932
|
|
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
|
|
|
NM_004629.2(FANCG):c.824_825del (p.Glu275fs)
|
rs867467817
|
|
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
|
|
|
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
|
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004629.2(FANCG):c.883dup (p.Asp295fs)
|
rs1829092483
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
NM_004629.2(FANCG):c.910G>T (p.Glu304Ter)
|
rs1829091954
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
NM_004629.2(FANCG):c.981dup (p.Leu328fs)
|
rs2131055463
|
|
NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]
|
|
|
NM_004826.3(ECEL1):c.[1252C>T;590G>A]
|
|
|
NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]
|
|
|
NM_004826.4(ECEL1):c.1042del (p.Gln348fs)
|
|
|
NM_004826.4(ECEL1):c.1059+1G>A
|
|
|
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)
|
rs1341894581
|
|
NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter)
|
rs1190799930
|
|
NM_004826.4(ECEL1):c.1184+3A>T
|
rs587776920
|
|
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln)
|
rs765430577
|
|
NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser)
|
rs587776919
|
|
NM_004826.4(ECEL1):c.1581+1G>A
|
rs1575076514
|
|
NM_004826.4(ECEL1):c.1649C>G (p.Ser550Ter)
|
rs587777130
|
|
NM_004826.4(ECEL1):c.1672del (p.Val558fs)
|
|
|
NM_004826.4(ECEL1):c.1685+1G>A
|
|
|
NM_004826.4(ECEL1):c.1685+1G>T
|
rs587777131
|
|
NM_004826.4(ECEL1):c.1702C>T (p.Gln568Ter)
|
|
|
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)
|
|
|
NM_004826.4(ECEL1):c.2151+1G>T
|
rs1421294063
|
|
NM_004826.4(ECEL1):c.2151+2T>A
|
rs762979130
|
|
NM_004826.4(ECEL1):c.344_355del (p.Asn115_Ala118del)
|
rs587776918
|
|
NM_004826.4(ECEL1):c.505_529del (p.Gly169fs)
|
rs767987856
|
|
NM_004826.4(ECEL1):c.509del (p.Gly170fs)
|
rs1553567937
|
|
NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp)
|
rs1176131791
|
|
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)
|
rs587776917
|
|
NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs)
|
rs878853118
|
|
NM_004826.4(ECEL1):c.80del (p.Gly27fs)
|
rs1370507095
|
|
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)
|
rs864309724
|
|
NM_004991.4(MECOM):c.2816A>G (p.His939Arg)
|
rs864309723
|
|
NM_004991.4(MECOM):c.2830A>G (p.Thr944Ala)
|
rs864309722
|
|
NM_004991.4(MECOM):c.2849G>C (p.Arg950Thr)
|
rs2148947240
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)
|
rs765096923
|
|
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)
|
rs763094966
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005055.5(RAPSN):c.1166+1G>C
|
|
|
NM_005055.5(RAPSN):c.1166+1G>T
|
|
|
NM_005055.5(RAPSN):c.1166+2T>G
|
|
|
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
|
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_005055.5(RAPSN):c.1185del (p.Thr396fs)
|
rs2153306243
|
|
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)
|
rs1565689206
|
|
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
|
|
|
NM_005055.5(RAPSN):c.192+2T>G
|
|
|
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
|
|
|
NM_005055.5(RAPSN):c.210del (p.Ile70fs)
|
rs760999895
|
|
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
|
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
|
|
|
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
|
|
|
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)
|
rs749287203
|
|
NM_005055.5(RAPSN):c.297del (p.His100fs)
|
rs2153311310
|
|
NM_005055.5(RAPSN):c.300_319del (p.His100fs)
|
rs2153311290
|
|
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)
|
rs2076423585
|
|
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)
|
rs2076422949
|
|
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
|
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
|
|
|
NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser)
|
rs121909256
|
|
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)
|
rs2153311231
|
|
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
|
|
|
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)
|
rs2153311780
|
|
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)
|
rs104894294
|
|
NM_005055.5(RAPSN):c.531+1G>A
|
|
|
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)
|
rs1015604630
|
|
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)
|
rs2153309143
|
|
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)
|
rs786200904
|
|
NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)
|
rs121909257
|
|
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)
|
rs1595899478
|
|
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
|
|
|
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)
|
rs2153309050
|
|
NM_005055.5(RAPSN):c.690+1G>A
|
|
|
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)
|
rs2076368388
|
|
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
|
|
|
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
|
|
|
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)
|
rs1262674788
|
|
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)
|
rs1555142603
|
|
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
|
|
|
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
|
|
|
NM_005055.5(RAPSN):c.912+1G>A
|
|
|
NM_005055.5(RAPSN):c.966+1_966+2delinsAG
|
rs2153308170
|
|
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
|
|
|
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
|
|
|
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)
|
rs201947904
|
|
NM_005105.5(RBM8A):c.*6C>T
|
|
|
NM_005105.5(RBM8A):c.-19G>A
|
rs760383043
|
|
NM_005105.5(RBM8A):c.-19G>T
|
rs760383043
|
|
NM_005105.5(RBM8A):c.205+3_205+6del
|
rs1648185461
|
|
NM_005105.5(RBM8A):c.206-13C>A
|
rs1350809730
|
|
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)
|
rs397515388
|
|
NM_005105.5(RBM8A):c.343-2A>G
|
rs2101877791
|
|
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)
|
rs397515389
|
|
NM_005105.5(RBM8A):c.67+34G>C
|
rs1553756157
|
|
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)
|
|
|
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)
|
rs1055176338
|
|
NM_005199.5(CHRNG):c.117dup (p.Asn40fs)
|
rs797044677
|
|
NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)
|
rs1553578312
|
|
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)
|
rs267606725
|
|
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)
|
rs764266722
|
|
NM_005199.5(CHRNG):c.240+1del
|
rs777809198
|
|
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)
|
rs1574643342
|
|
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)
|
rs863223313
|
|
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)
|
rs267606726
|
|
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
|
|
|
NM_005199.5(CHRNG):c.55+5G>A
|
|
|
NM_005199.5(CHRNG):c.56-2A>G
|
|
|
NM_005199.5(CHRNG):c.814del (p.Gln272fs)
|
rs2106221927
|
|
NM_005221.6(DLX5):c.533A>C (p.Gln178Pro)
|
rs387906737
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)
|
rs397509400
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)
|
rs397509401
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro)
|
rs397509402
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs)
|
rs1590556722
|
|
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del)
|
rs1861074646
|
|
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu)
|
rs863225258
|
|
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del)
|
rs863223279
|
|
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys)
|
rs863225260
|
|
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
|
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala)
|
rs863225261
|
|
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile)
|
rs2134745322
|
|
NM_005445.4(SMC3):c.2536-5_2541del
|
rs727503775
|
|
NM_005445.4(SMC3):c.2750A>C (p.His917Pro)
|
rs797044861
|
|
NM_005445.4(SMC3):c.703_705del (p.Thr235del)
|
rs863225259
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
NM_005450.6(NOG):c.103C>T (p.Pro35Ser)
|
rs28937580
|
|
NM_005450.6(NOG):c.104C>G (p.Pro35Arg)
|
rs104894611
|
|
NM_005450.6(NOG):c.386T>A (p.Leu129Ter)
|
rs104894613
|
|
NM_005450.6(NOG):c.551G>A (p.Cys184Tyr)
|
rs104894612
|
|
NM_005450.6(NOG):c.565G>T (p.Gly189Cys)
|
rs104894609
|
|
NM_005450.6(NOG):c.58del (p.Leu20fs)
|
rs2145567008
|
|
NM_005450.6(NOG):c.611G>T (p.Arg204Leu)
|
rs104894610
|
|
NM_005450.6(NOG):c.614G>A (p.Trp205Ter)
|
rs1567745119
|
|
NM_005450.6(NOG):c.615G>C (p.Trp205Cys)
|
rs104894615
|
|
NM_005450.6(NOG):c.649T>G (p.Trp217Gly)
|
rs104894603
|
|
NM_005450.6(NOG):c.64dup (p.Ala22fs)
|
rs1597919829
|
|
NM_005450.6(NOG):c.664T>G (p.Tyr222Asp)
|
rs121908948
|
|
NM_005450.6(NOG):c.665A>G (p.Tyr222Cys)
|
rs104894602
|
|
NM_005450.6(NOG):c.668C>T (p.Pro223Leu)
|
rs104894608
|
|
NM_005450.6(NOG):c.696C>G (p.Cys232Trp)
|
rs387906844
|
|
NM_005523.6(HOXA11):c.872del (p.Asn291fs)
|
rs864321666
|
|
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
|
|
|
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
|
|
|
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
|
|
|
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
|
|
|
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
|
|
|
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
|
|
|
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
|
|
|
NM_005592.4(MUSK):c.1626del (p.Glu542fs)
|
rs2077841802
|
|
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
|
|
|
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)
|
rs752798426
|
|
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
|
|
|
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
|
|
|
NM_005592.4(MUSK):c.2010del (p.Met670fs)
|
|
|
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
|
|
|
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
|
|
|
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
|
|
|
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
|
|
|
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
|
|
|
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
|
|
|
NM_005592.4(MUSK):c.31_34del (p.His11fs)
|
|
|
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
|
|
|
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
|
|
|
NM_005592.4(MUSK):c.581dup (p.Asn194fs)
|
rs1395885868
|
|
NM_005592.4(MUSK):c.582del (p.Asn194fs)
|
rs2131720596
|
|
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
|
|
|
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
|
|
|
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
|
|
|
NM_005592.4(MUSK):c.868del (p.Glu290fs)
|
|
|
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)
|
rs397515324
|
|
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)
|
rs782357237
|
|
NM_005850.5(SF3B4):c.1147del (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1147dup (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1148dup (p.His383fs)
|
rs797045124
|
|
NM_005850.5(SF3B4):c.1199del (p.Pro400fs)
|
rs797045123
|
|
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)
|
rs797045954
|
|
NM_005850.5(SF3B4):c.1232del (p.Pro411fs)
|
rs797045122
|
|
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)
|
rs797045121
|
|
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)
|
rs797045955
|
|
NM_005850.5(SF3B4):c.1A>G (p.Met1Val)
|
rs387907185
|
|
NM_005850.5(SF3B4):c.2T>C (p.Met1Thr)
|
rs2101648820
|
|
NM_005850.5(SF3B4):c.35-1G>A
|
rs2101647799
|
|
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)
|
|
|
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)
|
rs797045133
|
|
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)
|
rs797045956
|
|
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)
|
rs797045132
|
|
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs)
|
rs797045131
|
|
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)
|
rs797045957
|
|
NM_005850.5(SF3B4):c.763_781del (p.Pro255fs)
|
rs2101646017
|
|
NM_005850.5(SF3B4):c.769del (p.Ile257fs)
|
rs797045130
|
|
NM_005850.5(SF3B4):c.796dup (p.Met266fs)
|
rs797045129
|
|
NM_005850.5(SF3B4):c.827dup (p.Ser277fs)
|
rs797045128
|
|
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs)
|
rs797045127
|
|
NM_005850.5(SF3B4):c.864del (p.His288fs)
|
rs797045126
|
|
NM_005850.5(SF3B4):c.88del (p.Trp30fs)
|
rs797045134
|
|
NM_005850.5(SF3B4):c.913+1G>A
|
rs797045125
|
|
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)
|
rs121434231
|
|
NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter)
|
rs2102536764
|
|
NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser)
|
rs1224922793
|
|
NM_006147.4(IRF6):c.1061-1G>T
|
|
|
NM_006147.4(IRF6):c.1089del (p.Ile363fs)
|
|
|
NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs)
|
rs2077940243
|
|
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser)
|
rs2077857559
|
|
NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter)
|
rs121434225
|
|
NM_006147.4(IRF6):c.1195del (p.Ala399fs)
|
rs1553247602
|
|
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp)
|
rs28942095
|
|
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys)
|
rs1553248635
|
|
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
|
rs769068305
|
|
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)
|
rs1553247595
|
|
NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu)
|
rs387906968
|
|
NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)
|
rs1558038218
|
|
NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro)
|
rs886038202
|
|
NM_006147.4(IRF6):c.133del (p.Arg45fs)
|
rs1571986293
|
|
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter)
|
rs397515434
|
|
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)
|
rs28942094
|
|
NM_006147.4(IRF6):c.179G>A (p.Trp60Ter)
|
rs2077902428
|
|
NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)
|
rs2077902411
|
|
NM_006147.4(IRF6):c.226C>T (p.Pro76Ser)
|
rs886039388
|
|
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)
|
|
|
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)
|
rs121434226
|
|
NM_006147.4(IRF6):c.251G>A (p.Arg84His)
|
rs121434227
|
|
NM_006147.4(IRF6):c.251G>T (p.Arg84Leu)
|
rs121434227
|
|
NM_006147.4(IRF6):c.259C>T (p.Leu87Phe)
|
|
|
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)
|
rs1553248641
|
|
NM_006147.4(IRF6):c.263A>G (p.Asn88Ser)
|
rs2102542868
|
|
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)
|
|
|
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter)
|
rs121434224
|
|
NM_006147.4(IRF6):c.2T>A (p.Met1Lys)
|
|
|
NM_006147.4(IRF6):c.321_322del (p.Val108fs)
|
rs2102542809
|
|
NM_006147.4(IRF6):c.430G>T (p.Glu144Ter)
|
|
|
NM_006147.4(IRF6):c.439del (p.Glu147fs)
|
rs2102541666
|
|
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter)
|
rs1057520738
|
|
NM_006147.4(IRF6):c.478C>T (p.Gln160Ter)
|
rs1322638469
|
|
NM_006147.4(IRF6):c.492del (p.Phe165fs)
|
|
|
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter)
|
rs2077874511
|
|
NM_006147.4(IRF6):c.56_62del (p.Asp19fs)
|
|
|
NM_006147.4(IRF6):c.575G>A (p.Trp192Ter)
|
rs1399955256
|
|
NM_006147.4(IRF6):c.622C>T (p.Gln208Ter)
|
rs2077873846
|
|
NM_006147.4(IRF6):c.647_650dup (p.Trp217fs)
|
rs2102538567
|
|
NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)
|
rs387906967
|
|
NM_006147.4(IRF6):c.748C>T (p.Arg250Ter)
|
rs2077864704
|
|
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln)
|
rs1553247774
|
|
NM_006147.4(IRF6):c.902del (p.Gly301fs)
|
rs2102536939
|
|
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter)
|
rs2077863259
|
|
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
|
|
|
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)
|
rs387907212
|
|
NM_006265.3(RAD21):c.1161+1G>A
|
rs1563689416
|
|
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs)
|
rs1812376090
|
|
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)
|
rs1563688680
|
|
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)
|
rs748575266
|
|
NM_006265.3(RAD21):c.144+1G>A
|
rs1586275911
|
|
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs)
|
rs1812331711
|
|
NM_006265.3(RAD21):c.1550dup (p.Glu518fs)
|
rs1563687901
|
|
NM_006265.3(RAD21):c.1621-384_1704+199del
|
|
|
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
|
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)
|
rs1563686762
|
|
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)
|
rs1554612096
|
|
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter)
|
rs1425483905
|
|
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
|
|
|
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter)
|
rs1554612093
|
|
NM_006265.3(RAD21):c.3G>A (p.Met1Ile)
|
rs1586276006
|
|
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter)
|
rs1812515682
|
|
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)
|
rs797045907
|
|
NM_006265.3(RAD21):c.579dup (p.Glu194fs)
|
rs797045908
|
|
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)
|
rs1352385210
|
|
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)
|
rs797045909
|
|
NM_006265.3(RAD21):c.593dup (p.Ser198fs)
|
rs2130469261
|
|
NM_006265.3(RAD21):c.683del (p.Ile228fs)
|
|
|
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)
|
|
|
NM_006265.3(RAD21):c.704del (p.Ser235fs)
|
rs1812478613
|
|
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs)
|
rs1812700165
|
|
NM_006265.3(RAD21):c.943_946del (p.Glu315fs)
|
rs2130463115
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.109+575dup
|
rs2075758478
|
|
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)
|
rs2146614137
|
|
NM_006306.4(SMC1A):c.1114-2A>G
|
rs1569358628
|
|
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)
|
rs1057518670
|
|
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter)
|
rs2146604602
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)
|
rs1602411858
|
|
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
|
|
|
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs)
|
rs1057519398
|
|
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
|
|
|
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala)
|
rs122454122
|
|
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
|
rs2075701790
|
|
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)
|
rs122454123
|
|
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)
|
rs1556890135
|
|
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)
|
rs2075726992
|
|
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg)
|
rs2146600076
|
|
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
|
|
|
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
|
|
|
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)
|
rs1602410239
|
|
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
|
|
|
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)
|
rs2075687166
|
|
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
|
|
|
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter)
|
rs1569356968
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs)
|
rs2146599324
|
|
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
|
|
|
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
|
rs2075685944
|
|
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter)
|
rs2146599304
|
|
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)
|
rs1556889269
|
|
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg)
|
rs2146598316
|
|
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
|
|
|
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
|
rs387906702
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)
|
rs797045993
|
|
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)
|
rs1569356555
|
|
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)
|
rs2146598241
|
|
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)
|
rs2146595540
|
|
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)
|
rs1602407457
|
|
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
|
|
|
NM_006306.4(SMC1A):c.2547del (p.Ile849fs)
|
rs797045069
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)
|
rs1602405588
|
|
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)
|
rs2146593421
|
|
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)
|
rs863225458
|
|
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys)
|
rs2146606642
|
|
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)
|
rs1602404847
|
|
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
|
|
|
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter)
|
rs2146592415
|
|
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)
|
rs2146592407
|
|
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
|
rs1556887759
|
|
NM_006306.4(SMC1A):c.2973+1G>A
|
|
|
NM_006306.4(SMC1A):c.2974-2A>G
|
rs727503774
|
|
NM_006306.4(SMC1A):c.298+2T>C
|
|
|
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)
|
rs1602398950
|
|
NM_006306.4(SMC1A):c.302del (p.Gly101fs)
|
rs2146606566
|
|
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
|
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
|
rs2075591559
|
|
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)
|
rs2146582701
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)
|
rs1569351907
|
|
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)
|
rs797044896
|
|
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)
|
rs1556886034
|
|
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
|
rs2075587887
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
|
|
|
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
|
|
|
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
|
rs2075586377
|
|
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)
|
rs2146582432
|
|
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
|
|
|
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)
|
rs1556885810
|
|
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)
|
rs863225459
|
|
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
|
|
|
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
|
|
|
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
|
rs2075725850
|
|
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
|
rs2075725792
|
|
NM_006306.4(SMC1A):c.481del (p.Ser161fs)
|
rs2146605644
|
|
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
|
|
|
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
|
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs)
|
rs2146605568
|
|
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.587G>A (p.Arg196His)
|
rs1556890815
|
|
NM_006306.4(SMC1A):c.615+2T>C
|
rs868985177
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter)
|
rs2146605443
|
|
NM_006306.4(SMC1A):c.655del (p.Ala219fs)
|
rs1569359048
|
|
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs)
|
rs2146605369
|
|
NM_006306.4(SMC1A):c.761del (p.Lys254fs)
|
rs2146605339
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
|
|
|
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
|
|
|
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)
|
rs1057517674
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
NM_006757.4(TNNT3):c.723-2A>G
|
rs1855785074
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)
|
rs1555589094
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_012243.3(SLC35A3):c.-18-1G>T
|
rs2101132521
|
|
NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)
|
|
|
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)
|
rs775151826
|
|
NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs)
|
rs2101195764
|
|
NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)
|
|
|
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)
|
|
|
NM_012243.3(SLC35A3):c.38del (p.Leu13fs)
|
rs2101133098
|
|
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)
|
|
|
NM_012243.3(SLC35A3):c.45del (p.Gln16fs)
|
|
|
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter)
|
rs1553203137
|
|
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)
|
rs398122524
|
|
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer)
|
rs1659624849
|
|
NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)
|
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter)
|
rs2101370069
|
|
NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)
|
|
|
NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)
|
|
|
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)
|
|
|
NM_012243.3(SLC35A3):c.699del (p.Asn234fs)
|
|
|
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs)
|
rs1316448163
|
|
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)
|
rs1660025629
|
|
NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)
|
|
|
NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu)
|
rs903783945
|
|
NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter)
|
rs1660027548
|
|
NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)
|
|
|
NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs)
|
rs1570625903
|
|
NM_012243.3(SLC35A3):c.783del (p.Ile262fs)
|
|
|
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)
|
|
|
NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs)
|
rs2101501082
|
|
NM_012398.3(PIP5K1C):c.757G>A (p.Asp253Asn)
|
rs121908315
|
|
NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)
|
rs756765686
|
|
NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)
|
rs2049768364
|
|
NM_013292.5(MYL11):c.98C>T (p.Ala33Val)
|
rs2049733161
|
|
NM_013352.4(DSE):c.799A>G (p.Arg267Gly)
|
rs1554227382
|
|
NM_013352.4(DSE):c.803C>T (p.Ser268Leu)
|
rs398122361
|
|
NM_014176.3(UBE2T):c.-65+1253_*12383del
|
|
|
NM_014176.4(UBE2T):c.110-280_468+264del
|
|
|
NM_014176.4(UBE2T):c.110-280_468+264dup
|
|
|
NM_014176.4(UBE2T):c.179+5G>A
|
rs796052212
|
|
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)
|
rs774357609
|
|
NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)
|
rs1590215915
|
|
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)
|
rs1590414630
|
|
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys)
|
rs879255232
|
|
NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile)
|
rs587776970
|
|
NM_014489.4(PGAP2):c.530A>G (p.Asn177Ser)
|
rs377757894
|
|
NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser)
|
rs879255233
|
|
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)
|
rs774843232
|
|
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs)
|
rs786201012
|
|
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter)
|
rs786201013
|
|
NM_014918.5(CHSY1):c.14del (p.Gly5fs)
|
rs1567112402
|
|
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)
|
rs387906985
|
|
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter)
|
rs387906984
|
|
NM_014918.5(CHSY1):c.321-3C>G
|
rs1567106459
|
|
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)
|
|
|
NM_014918.5(CHSY1):c.96del (p.Glu33fs)
|
rs1596459125
|
|
NM_015270.5(ADCY6):c.1535+1G>A
|
rs1941705738
|
|
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)
|
rs879253864
|
|
NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)
|
rs786204798
|
|
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)
|
rs794729674
|
|
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)
|
rs875989814
|
|
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)
|
rs1064794956
|
|
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe)
|
rs1064795108
|
|
NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly)
|
rs387907270
|
|
NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu)
|
rs387907271
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
|
|
|
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)
|
rs1765602287
|
|
NM_016277.5(RAB23):c.17del (p.Met6fs)
|
rs1765608519
|
|
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
|
|
|
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
|
|
|
NM_016277.5(RAB23):c.398+1G>A
|
rs2127998616
|
|
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)
|
rs2127998022
|
|
NM_016277.5(RAB23):c.426del (p.Arg142fs)
|
|
|
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
|
|
|
NM_016277.5(RAB23):c.467del (p.Leu156fs)
|
|
|
NM_016277.5(RAB23):c.481G>C (p.Val161Leu)
|
rs1060505026
|
|
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)
|
rs2127997677
|
|
NM_016277.5(RAB23):c.5del (p.Leu2fs)
|
rs1593223920
|
|
NM_016277.5(RAB23):c.82del (p.Arg28fs)
|
rs2128004184
|
|
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)
|
rs1593223800
|
|
NM_016653.2(MAP3K20):c.988-4814_1359+60del
|
|
|
NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys)
|
rs863225437
|
|
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter)
|
rs3769148
|
|
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs)
|
rs1843317673
|
|
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs)
|
rs2133369937
|
|
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg)
|
rs587777736
|
|
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter)
|
rs869025494
|
|
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)
|
rs864622056
|
|
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs)
|
rs1564199476
|
|
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
|
|
|
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter)
|
rs779058908
|
|
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)
|
rs864622059
|
|
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs)
|
rs2133363840
|
|
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs)
|
rs1843252720
|
|
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs)
|
rs1554729443
|
|
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter)
|
rs1554729118
|
|
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter)
|
rs1554729113
|
|
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs)
|
rs1589064285
|
|
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
|
|
|
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
|
|
|
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter)
|
rs1554728428
|
|
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr)
|
rs1554728424
|
|
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)
|
rs41309764
|
|
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
|
|
|
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
|
|
|
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
|
|
|
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter)
|
rs1564191302
|
|
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
|
|
|
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)
|
rs864622060
|
|
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
|
rs1589058964
|
|
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter)
|
rs1554730670
|
|
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter)
|
rs587778569
|
|
NM_017617.5(NOTCH1):c.428del (p.Pro143fs)
|
rs2133377982
|
|
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter)
|
rs2133339552
|
|
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter)
|
rs2133339381
|
|
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter)
|
rs1036363986
|
|
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
|
|
|
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)
|
rs587781259
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter)
|
rs746342893
|
|
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter)
|
rs2133337500
|
|
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)
|
rs864622061
|
|
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
|
|
|
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)
|
rs1589072024
|
|
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
|
|
|
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn)
|
rs587777734
|
|
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs)
|
rs864622063
|
|
NM_017617.5(NOTCH1):c.743-1G>T
|
rs587777735
|
|
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs)
|
rs2133372831
|
|
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)
|
rs1554730184
|
|
NM_017837.4(PIGV):c.1022C>T (p.Ala341Val)
|
rs139073416
|
|
NM_017837.4(PIGV):c.1154A>C (p.His385Pro)
|
rs267606951
|
|
NM_017837.4(PIGV):c.766C>A (p.Gln256Lys)
|
rs267606952
|
|
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)
|
rs760124743
|
|
NM_017988.6(SCYL2):c.1624dup (p.Val542fs)
|
rs2096362304
|
|
NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)
|
|
|
NM_018062.3(FANCL):c.822-15_822-9delins177
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
|
rs761291501
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
|
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
NM_018062.4(FANCL):c.746_756del (p.Pro249fs)
|
rs2104799800
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)
|
rs2104799592
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)
|
rs1423411761
|
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
|
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)
|
rs1555524842
|
|
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs)
|
rs1205970095
|
|
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg)
|
rs397515418
|
|
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
|
|
|
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs)
|
rs1556165162
|
|
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)
|
rs1555948969
|
|
NM_018486.3(HDAC8):c.1112-4_1116del
|
rs1602491207
|
|
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)
|
rs587783663
|
|
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)
|
rs797045610
|
|
NM_018486.3(HDAC8):c.164+2dup
|
rs2147614590
|
|
NM_018486.3(HDAC8):c.164+5G>A
|
rs398122888
|
|
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)
|
rs797045611
|
|
NM_018486.3(HDAC8):c.295+2T>G
|
rs2051897517
|
|
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg)
|
rs587779380
|
|
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)
|
rs587779380
|
|
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu)
|
rs2148144488
|
|
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)
|
rs397515415
|
|
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
|
rs886041936
|
|
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)
|
rs146015223
|
|
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter)
|
rs146015223
|
|
NM_018486.3(HDAC8):c.539A>G (p.His180Arg)
|
rs397515416
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
|
|
|
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer)
|
rs2147618568
|
|
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
|
|
|
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)
|
rs886041838
|
|
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter)
|
rs2148045934
|
|
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)
|
rs1569316085
|
|
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile)
|
rs2148039184
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
|
|
|
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs)
|
rs398122408
|
|
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)
|
rs121434384
|
|
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)
|
rs751858602
|
|
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)
|
rs773306000
|
|
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)
|
rs11542638
|
|
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter)
|
rs121434383
|
|
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg)
|
rs1596348299
|
|
NM_018668.5(VPS33B):c.240-577_290-156del
|
rs1555460030
|
|
NM_018668.5(VPS33B):c.350del (p.Pro117fs)
|
rs1555459968
|
|
NM_018668.5(VPS33B):c.700+1G>A
|
rs794726658
|
|
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)
|
rs2041122746
|
|
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro)
|
rs121434385
|
|
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
|
|
|
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)
|
rs398122938
|
|
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His)
|
rs1057520297
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
NM_018684.4(ZC4H2):c.225+2T>C
|
rs1929207873
|
|
NM_018684.4(ZC4H2):c.225+5G>A
|
rs1057520298
|
|
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)
|
rs1555945816
|
|
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)
|
rs1929136990
|
|
NM_018684.4(ZC4H2):c.275_276del (p.Glu92fs)
|
rs1929135614
|
|
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
|
|
|
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)
|
rs1602379828
|
|
NM_018684.4(ZC4H2):c.426G>A (p.Trp142Ter)
|
rs1929070198
|
|
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)
|
rs1260869746
|
|
NM_018684.4(ZC4H2):c.575G>A (p.Cys192Tyr)
|
rs2147345743
|
|
NM_018684.4(ZC4H2):c.576del (p.His193fs)
|
rs1929007323
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)
|
rs879255235
|
|
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)
|
rs1929006117
|
|
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)
|
rs398122939
|
|
NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe)
|
rs1064795753
|
|
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)
|
rs879255236
|
|
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)
|
rs1929002470
|
|
NM_018684.4(ZC4H2):c.67C>T (p.Gln23Ter)
|
rs1929216641
|
|
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)
|
rs796065347
|
|
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)
|
rs796065346
|
|
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser)
|
rs1555393125
|
|
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp)
|
rs796065345
|
|
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr)
|
rs1247027543
|
|
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)
|
rs796065344
|
|
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)
|
rs61750844
|
|
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter)
|
rs1555393182
|
|
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs)
|
rs1892853569
|
|
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)
|
rs796065350
|
|
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)
|
rs796065348
|
|
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu)
|
rs796065351
|
|
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr)
|
rs796065349
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_020436.5(SALL4):c.1054del (p.Ala352fs)
|
rs1601170510
|
|
NM_020436.5(SALL4):c.1068del (p.Lys357fs)
|
rs2122964551
|
|
NM_020436.5(SALL4):c.1232del (p.Val411fs)
|
rs1568864697
|
|
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
|
|
|
NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)
|
|
|
NM_020436.5(SALL4):c.1625del (p.Pro542fs)
|
|
|
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter)
|
rs2122963183
|
|
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter)
|
rs2078032400
|
|
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter)
|
rs2078031226
|
|
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)
|
rs74315427
|
|
NM_020436.5(SALL4):c.1904del (p.Phe635fs)
|
rs1601168967
|
|
NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter)
|
rs74315424
|
|
NM_020436.5(SALL4):c.1959dup (p.Pro654fs)
|
rs2122962507
|
|
NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)
|
|
|
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
|
|
|
NM_020436.5(SALL4):c.2280dup (p.Asn761fs)
|
|
|
NM_020436.5(SALL4):c.2424dup (p.Ala809fs)
|
|
|
NM_020436.5(SALL4):c.2425del (p.Ala809fs)
|
rs1601168015
|
|
NM_020436.5(SALL4):c.2456dup (p.Met819fs)
|
|
|
NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter)
|
rs74315425
|
|
NM_020436.5(SALL4):c.2607del (p.Gln869fs)
|
rs1601166963
|
|
NM_020436.5(SALL4):c.2663A>G (p.His888Arg)
|
rs74315429
|
|
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)
|
rs74315428
|
|
NM_020436.5(SALL4):c.326del (p.Pro109fs)
|
rs1601171949
|
|
NM_020436.5(SALL4):c.410dup (p.Gly138fs)
|
rs879255537
|
|
NM_020436.5(SALL4):c.474_475del (p.Glu158fs)
|
|
|
NM_020436.5(SALL4):c.516_522del (p.Gly174fs)
|
rs2078047390
|
|
NM_020436.5(SALL4):c.523A>T (p.Lys175Ter)
|
rs74315426
|
|
NM_020436.5(SALL4):c.563del (p.Gly188fs)
|
rs1555850961
|
|
NM_020436.5(SALL4):c.712C>T (p.Gln238Ter)
|
rs2122965458
|
|
NM_020436.5(SALL4):c.827dup (p.Ser276fs)
|
rs1568865283
|
|
NM_020436.5(SALL4):c.941dup (p.Leu315fs)
|
rs1601170799
|
|
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter)
|
rs1569100177
|
|
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter)
|
rs387906921
|
|
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn)
|
rs387906922
|
|
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn)
|
rs387906923
|
|
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)
|
|
|
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)
|
rs387907031
|
|
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)
|
rs1553768038
|
|
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)
|
rs1559999373
|
|
NM_020812.4(DOCK6):c.1300del (p.Gln434fs)
|
rs2147852182
|
|
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)
|
rs730882238
|
|
NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter)
|
rs1198436520
|
|
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs)
|
rs397509398
|
|
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)
|
rs774877657
|
|
NM_020812.4(DOCK6):c.4107-1G>C
|
rs397509399
|
|
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs)
|
rs1555826472
|
|
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
|
|
|
NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)
|
|
|
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs)
|
rs1232184969
|
|
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)
|
rs1555697020
|
|
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp)
|
rs879255610
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020937.4(FANCM):c.1015del (p.Asp339fs)
|
rs1216266838
|
|
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
|
|
|
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)
|
rs765686151
|
|
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
|
|
|
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)
|
rs1166587869
|
|
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer)
|
rs1467556424
|
|
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
|
|
|
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)
|
rs1270367757
|
|
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
|
|
|
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
|
rs552052505
|
|
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)
|
rs2139186499
|
|
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
|
|
|
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
|
|
|
NM_020937.4(FANCM):c.1560del (p.Phe520fs)
|
rs2139186964
|
|
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)
|
rs1447482674
|
|
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs)
|
rs1887822022
|
|
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs)
|
rs1887832125
|
|
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)
|
rs778744393
|
|
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs)
|
rs1888023074
|
|
NM_020937.4(FANCM):c.1844del (p.Asn615fs)
|
rs2139214355
|
|
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
|
|
|
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs)
|
rs777996811
|
|
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
|
|
|
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
|
|
|
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
|
|
|
NM_020937.4(FANCM):c.2138del (p.Leu713fs)
|
rs1594792135
|
|
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs)
|
rs762570903
|
|
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
|
|
|
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
|
|
|
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)
|
rs1888447684
|
|
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
|
|
|
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
|
|
|
NM_020937.4(FANCM):c.2336dup (p.Leu779fs)
|
rs1404537579
|
|
NM_020937.4(FANCM):c.2359del (p.Met787fs)
|
|
|
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
|
|
|
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.2589del (p.Asp864fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.2590del (p.Asp864fs)
|
rs1566762159
|
|
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
|
|
|
NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
|
rs1888605629
|
|
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer)
|
rs2139244126
|
|
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
|
|
|
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
|
|
|
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
|
|
|
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_020937.4(FANCM):c.3190del (p.Ser1064fs)
|
rs778191984
|
|
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
|
|
|
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter)
|
rs1555364837
|
|
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
|
rs1888681090
|
|
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs)
|
rs2139248770
|
|
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)
|
rs2139249281
|
|
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
|
|
|
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)
|
rs372276411
|
|
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
|
|
|
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs)
|
rs1159078705
|
|
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
|
rs1888718087
|
|
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
|
|
|
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)
|
rs751795256
|
|
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs)
|
rs2139252496
|
|
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
|
|
|
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
|
|
|
NM_020937.4(FANCM):c.4005del (p.Val1336fs)
|
rs746983128
|
|
NM_020937.4(FANCM):c.4005dup (p.Val1336fs)
|
rs746983128
|
|
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
|
|
|
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
|
|
|
NM_020937.4(FANCM):c.4101dup (p.Val1368fs)
|
rs747974206
|
|
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)
|
rs776133776
|
|
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)
|
rs1235515288
|
|
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
|
|
|
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
|
|
|
NM_020937.4(FANCM):c.4285del (p.Arg1429fs)
|
rs1227066484
|
|
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
|
|
|
NM_020937.4(FANCM):c.4304_4305insSVAelement
|
|
|
NM_020937.4(FANCM):c.4456del (p.Val1486fs)
|
rs1478392446
|
|
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
|
|
|
NM_020937.4(FANCM):c.4477del (p.Arg1493fs)
|
rs1889219103
|
|
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
|
|
|
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
|
|
|
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs)
|
rs1566775922
|
|
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
|
|
|
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)
|
rs1594810556
|
|
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer)
|
rs1594810654
|
|
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
|
|
|
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)
|
rs1885521004
|
|
NM_020937.4(FANCM):c.4779+1del
|
rs764534989
|
|
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
|
|
|
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
|
rs1566782962
|
|
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
|
|
|
NM_020937.4(FANCM):c.516dup (p.Gln173fs)
|
rs2139106255
|
|
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
|
|
|
NM_020937.4(FANCM):c.5201del (p.Thr1734fs)
|
rs2139297782
|
|
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
|
|
|
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
|
|
|
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer)
|
rs1566783809
|
|
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter)
|
rs1324635932
|
|
NM_020937.4(FANCM):c.5380del (p.Ser1794fs)
|
rs1890046687
|
|
NM_020937.4(FANCM):c.538del (p.Ile180fs)
|
rs2139106358
|
|
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter)
|
rs1594481199
|
|
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)
|
rs1354153410
|
|
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
|
|
|
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs)
|
rs1566790465
|
|
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
|
|
|
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
|
|
|
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
|
|
|
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
|
|
|
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs)
|
rs1203346034
|
|
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
|
|
|
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
|
|
|
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
|
rs1885850135
|
|
NM_020937.4(FANCM):c.710del (p.Asn237fs)
|
rs1340295590
|
|
NM_020937.4(FANCM):c.81del (p.Gly28fs)
|
rs2139099848
|
|
NM_020937.4(FANCM):c.855del (p.Val286fs)
|
rs2139151883
|
|
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
|
|
|
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
|
|
|
NM_020937.4(FANCM):c.909_910del (p.Ile305fs)
|
rs1886630094
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.809G>T (p.Gly270Val)
|
rs387907220
|
|
NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro)
|
rs387907219
|
|
NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu)
|
rs515726170
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA
|
rs1767491456
|
|
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
|
|
|
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)
|
rs2150896309
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
|
|
|
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
|
|
|
NM_021922.3(FANCE):c.1363del (p.Gln455fs)
|
rs1767552099
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
NM_021922.3(FANCE):c.209del (p.Glu70fs)
|
|
|
NM_021922.3(FANCE):c.248+1G>A
|
rs1480350743
|
|
NM_021922.3(FANCE):c.334del (p.Ser112fs)
|
rs1479445348
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.436del (p.Val146fs)
|
rs1767313373
|
|
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
|
|
|
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
|
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
|
|
|
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
|
|
|
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
|
|
|
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
|
|
|
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
|
|
|
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)
|
rs1767152512
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.931dup (p.Val311fs)
|
|
|
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)
|
rs1767417868
|
|
NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)
|
|
|
NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)
|
rs2144041488
|
|
NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs)
|
rs397509383
|
|
NM_021939.4(FKBP10):c.1276dup (p.Gln426fs)
|
rs1567856056
|
|
NM_021939.4(FKBP10):c.743dup (p.Gln249fs)
|
rs1555616552
|
|
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)
|
rs137853883
|
|
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)
|
rs869320752
|
|
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)
|
rs1567855132
|
|
NM_022458.3(LMBR1):c.320-5565_423+10975dup
|
|
|
NM_022458.4(LMBR1):c.423+4618C>G
|
rs606231146
|
|
NM_022458.4(LMBR1):c.423+4808T>C
|
rs606231152
|
|
NM_022458.4(LMBR1):c.423+4810G>A
|
rs606231230
|
|
NM_022458.4(LMBR1):c.423+4818A>T
|
rs606231148
|
|
NM_022458.4(LMBR1):c.423+4842T>C
|
rs606231149
|
|
NM_022458.4(LMBR1):c.423+4847T>G
|
rs606231231
|
|
NM_022458.4(LMBR1):c.423+4909C>T
|
rs606231153
|
|
NM_022458.4(LMBR1):c.423+4917G>A
|
rs606231147
|
|
NM_022458.4(LMBR1):c.423+4917G>C
|
rs606231147
|
|
NM_022458.4(LMBR1):c.423+4919A>G
|
rs2133321113
|
|
NM_022458.4(LMBR1):c.423+5134C>G
|
rs606231151
|
|
NM_022458.4(LMBR1):c.423+5252A>G
|
rs606231150
|
|
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
|
rs1858636931
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)
|
rs104894221
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
NM_022725.4(FANCF):c.236del (p.Gly79fs)
|
|
|
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)
|
rs2133798885
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
NM_022725.4(FANCF):c.283_284del (p.Leu95fs)
|
rs2133798188
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter)
|
rs2133798073
|
|
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter)
|
rs104894222
|
|
NM_022725.4(FANCF):c.351_397del (p.Gly120fs)
|
rs730880278
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
NM_022725.4(FANCF):c.3G>A (p.Met1Ile)
|
rs2133798927
|
|
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer)
|
rs778546226
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)
|
rs766279442
|
|
NM_022725.4(FANCF):c.534del (p.Lys179fs)
|
rs2133797515
|
|
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
|
|
|
NM_022725.4(FANCF):c.538del (p.Ala180fs)
|
|
|
NM_022725.4(FANCF):c.594_595del (p.Asn199fs)
|
rs2133797345
|
|
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)
|
rs1479457172
|
|
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
|
|
|
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)
|
|
|
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)
|
|
|
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)
|
rs727505371
|
|
NM_023110.3(FGFR1):c.111del (p.Val38fs)
|
|
|
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)
|
rs121909634
|
|
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)
|
rs2150705198
|
|
NM_023110.3(FGFR1):c.1430+1G>A
|
rs1554552774
|
|
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
|
|
|
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)
|
rs869025670
|
|
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)
|
rs1817280576
|
|
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
|
|
|
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
|
|
|
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)
|
rs121909639
|
|
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)
|
rs121909628
|
|
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
|
|
|
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
|
|
|
NM_023110.3(FGFR1):c.1946del (p.His649fs)
|
|
|
NM_023110.3(FGFR1):c.1948del (p.His650fs)
|
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)
|
rs776264072
|
|
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
|
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
|
|
|
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
|
|
|
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
|
|
|
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
|
|
|
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)
|
rs121909645
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
|
|
|
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)
|
rs1131691929
|
|
NM_023110.3(FGFR1):c.979_983del (p.His327fs)
|
rs2150757205
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs)
|
rs180177113
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3114-16_3114-11del
|
rs2142300433
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)
|
rs180177134
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_030753.5(WNT3):c.247C>T (p.Gln83Ter)
|
rs104894653
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1629-498A>T
|
rs1203185416
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.205+2T>C
|
rs1060501763
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.765G>T (p.Gln255His)
|
rs2078111971
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
|
|
|
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
|
|
|
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
|
|
|
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
|
rs1218169126
|
|
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)
|
rs1171341642
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
NM_032444.4(SLX4):c.1163+3dup
|
rs2040719776
|
|
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
|
|
|
NM_032444.4(SLX4):c.1367-2A>G
|
rs2040679706
|
|
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
|
|
|
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
|
|
|
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
|
|
|
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
|
|
|
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
|
|
|
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
|
|
|
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
|
|
|
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
|
rs1266198754
|
|
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
|
|
|
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
|
|
|
NM_032444.4(SLX4):c.2013+225_3147delinsCC
|
|
|
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
|
|
|
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)
|
rs2151126006
|
|
NM_032444.4(SLX4):c.2449del (p.Glu817fs)
|
rs1567170994
|
|
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
|
|
|
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
|
|
|
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter)
|
rs2151125489
|
|
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
|
|
|
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
|
|
|
NM_032444.4(SLX4):c.286del (p.Thr96fs)
|
rs1596534281
|
|
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs)
|
rs2151124655
|
|
NM_032444.4(SLX4):c.307del (p.Leu103fs)
|
|
|
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
|
|
|
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)
|
rs2151123968
|
|
NM_032444.4(SLX4):c.3282del (p.Glu1094fs)
|
rs2151123906
|
|
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
|
|
|
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs)
|
rs1440022090
|
|
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
|
|
|
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)
|
rs770687847
|
|
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs)
|
rs878855162
|
|
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
|
|
|
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)
|
rs1193906930
|
|
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
|
|
|
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)
|
rs2040557100
|
|
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
|
rs2040556390
|
|
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
|
|
|
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs)
|
rs2151122078
|
|
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
|
|
|
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
|
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
|
rs1174332682
|
|
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
|
rs1374549534
|
|
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs)
|
rs781663547
|
|
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
|
rs781663547
|
|
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)
|
rs1028935047
|
|
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
|
|
|
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
|
|
|
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)
|
rs751653739
|
|
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)
|
rs1596519879
|
|
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
|
rs1596519854
|
|
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
|
|
|
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
|
|
|
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
|
|
|
NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)
|
rs2040540029
|
|
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
|
|
|
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
|
|
|
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
|
|
|
NM_032444.4(SLX4):c.4764del (p.Lys1588fs)
|
rs1567166655
|
|
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)
|
rs143026968
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)
|
rs761469284
|
|
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
|
|
|
NM_032444.4(SLX4):c.4862del (p.Leu1621fs)
|
rs1567166544
|
|
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)
|
rs770425994
|
|
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs)
|
rs2151116570
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
|
rs2040788600
|
|
NM_032444.4(SLX4):c.59del (p.Leu20fs)
|
rs1315905872
|
|
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
|
|
|
NM_032444.4(SLX4):c.86_89del (p.Arg29fs)
|
rs2151139911
|
|
NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)
|
|
|
NM_032634.4(PIGO):c.1126C>T (p.Arg376Ter)
|
|
|
NM_032634.4(PIGO):c.1184del (p.Gln395fs)
|
|
|
NM_032634.4(PIGO):c.1187del (p.Leu396fs)
|
rs1657564568
|
|
NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)
|
|
|
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs)
|
rs1563998317
|
|
NM_032634.4(PIGO):c.1329G>A (p.Trp443Ter)
|
rs2131077198
|
|
NM_032634.4(PIGO):c.135dup (p.Gly46fs)
|
rs1287376106
|
|
NM_032634.4(PIGO):c.1361del (p.Gly454fs)
|
|
|
NM_032634.4(PIGO):c.1361dup (p.Thr455fs)
|
|
|
NM_032634.4(PIGO):c.1445_1449del (p.Leu482fs)
|
rs1209271799
|
|
NM_032634.4(PIGO):c.1549del (p.Ala517fs)
|
rs1587166550
|
|
NM_032634.4(PIGO):c.178del (p.Ala60fs)
|
rs1378962389
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_032634.4(PIGO):c.1923C>A (p.Cys641Ter)
|
|
|
NM_032634.4(PIGO):c.1942del (p.Cys648fs)
|
rs2131075608
|
|
NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter)
|
rs1391418639
|
|
NM_032634.4(PIGO):c.196C>T (p.Arg66Ter)
|
rs763992668
|
|
NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter)
|
rs1563996824
|
|
NM_032634.4(PIGO):c.204dup (p.Arg69fs)
|
rs751086453
|
|
NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)
|
|
|
NM_032634.4(PIGO):c.2191del (p.Arg731fs)
|
rs760848629
|
|
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)
|
rs760848629
|
|
NM_032634.4(PIGO):c.2217del (p.Ser740fs)
|
|
|
NM_032634.4(PIGO):c.2257del (p.Ser753fs)
|
rs2131074579
|
|
NM_032634.4(PIGO):c.2360_2363del (p.Pro787fs)
|
rs2131074060
|
|
NM_032634.4(PIGO):c.2361dup (p.Thr788fs)
|
rs770591449
|
|
NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)
|
|
|
NM_032634.4(PIGO):c.2397A>C (p.Gln799His)
|
rs1587162510
|
|
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter)
|
rs1199247059
|
|
NM_032634.4(PIGO):c.2413C>T (p.Gln805Ter)
|
|
|
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)
|
rs746967719
|
|
NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)
|
|
|
NM_032634.4(PIGO):c.2602_2605del (p.Leu868fs)
|
rs2131073372
|
|
NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter)
|
rs1829372756
|
|
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)
|
rs142164373
|
|
NM_032634.4(PIGO):c.28del (p.Leu10fs)
|
|
|
NM_032634.4(PIGO):c.2921del (p.Gln974fs)
|
rs1829352034
|
|
NM_032634.4(PIGO):c.2953A>T (p.Arg985Ter)
|
|
|
NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)
|
|
|
NM_032634.4(PIGO):c.309del (p.Lys103fs)
|
|
|
NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)
|
|
|
NM_032634.4(PIGO):c.327_336del (p.Ile110fs)
|
|
|
NM_032634.4(PIGO):c.36G>A (p.Trp12Ter)
|
|
|
NM_032634.4(PIGO):c.438del (p.Phe146fs)
|
rs1587176440
|
|
NM_032634.4(PIGO):c.445dup (p.Ala149fs)
|
|
|
NM_032634.4(PIGO):c.589_590del (p.Pro197fs)
|
rs763591247
|
|
NM_032634.4(PIGO):c.590del (p.Pro197fs)
|
rs763591247
|
|
NM_032634.4(PIGO):c.894_895del (p.Phe299fs)
|
|
|
NM_032634.4(PIGO):c.91dup (p.Thr31fs)
|
rs1587178357
|
|
NM_032634.4(PIGO):c.985del (p.Leu329fs)
|
|
|
NM_033084.4(FANCD2):c.-33-?_1098+?del
|
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
NM_033419.5(PGAP3):c.265C>T (p.Gln89Ter)
|
|
|
NM_033419.5(PGAP3):c.275G>A (p.Gly92Asp)
|
rs587777251
|
|
NM_033419.5(PGAP3):c.280del (p.Trp94fs)
|
rs1555610292
|
|
NM_033419.5(PGAP3):c.314C>G (p.Pro105Arg)
|
rs371549948
|
|
NM_033419.5(PGAP3):c.402dup (p.Met135fs)
|
rs869312812
|
|
NM_033419.5(PGAP3):c.432+1G>A
|
rs1555610241
|
|
NM_033419.5(PGAP3):c.439dup (p.Leu147fs)
|
rs869312815
|
|
NM_033419.5(PGAP3):c.452dup (p.Trp152fs)
|
rs2057353122
|
|
NM_033419.5(PGAP3):c.455G>A (p.Trp152Ter)
|
rs2057353041
|
|
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter)
|
rs1567871748
|
|
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg)
|
rs869312816
|
|
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)
|
rs2145100763
|
|
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter)
|
rs2057593272
|
|
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro)
|
rs869312817
|
|
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)
|
rs869312814
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_033419.5(PGAP3):c.851A>G (p.His284Arg)
|
rs776720232
|
|
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
|
|
|
NM_058216.1(RAD51C):c.(?_-1)_837+?del
|
|
|
NM_058216.1(RAD51C):c.572-?_(*1_?)del
|
|
|
NM_058216.1(RAD51C):c.966-?_1026+?del
|
|
|
NM_058216.2(RAD51C):c.572-?_*120del
|
|
|
NM_058216.2(RAD51C):c.572-?_705+?del
|
|
|
NM_058216.2(RAD51C):c.706-?_*120del
|
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+1G>T
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.158del (p.Ser53fs)
|
rs587782533
|
|
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter)
|
rs2047940709
|
|
NM_058216.3(RAD51C):c.168del (p.Ala57fs)
|
rs2143717943
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)
|
rs1567785872
|
|
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
|
rs1567785888
|
|
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
|
|
|
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)
|
rs786202563
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)
|
rs1555593553
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter)
|
rs765304898
|
|
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)
|
rs1555593670
|
|
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)
|
rs1555593715
|
|
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)
|
rs2047953067
|
|
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)
|
rs1567782755
|
|
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
|
|
|
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
|
|
|
NM_058216.3(RAD51C):c.358dup (p.Thr120fs)
|
rs2143725868
|
|
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
|
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
|
|
|
NM_058216.3(RAD51C):c.394del (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)
|
rs1233795152
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)
|
rs2048021234
|
|
NM_058216.3(RAD51C):c.444del (p.Phe148fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.444dup (p.Gly149fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)
|
rs2143746162
|
|
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
|
|
|
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
|
|
|
NM_058216.3(RAD51C):c.485del (p.Gly162fs)
|
rs2143746632
|
|
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs)
|
rs2143746939
|
|
NM_058216.3(RAD51C):c.496del (p.Val166fs)
|
rs2143747219
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
NM_058216.3(RAD51C):c.502dup (p.Arg168fs)
|
rs2143747561
|
|
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
|
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
|
rs1598448896
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
|
|
|
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
|
|
|
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)
|
rs1363104728
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs)
|
rs2143749861
|
|
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)
|
rs1555594912
|
|
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)
|
rs1330937621
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)
|
rs1555597094
|
|
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs)
|
rs2048269550
|
|
NM_058216.3(RAD51C):c.612del (p.Leu205fs)
|
rs2143797889
|
|
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
|
|
|
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)
|
rs876659497
|
|
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
|
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs)
|
rs2048272509
|
|
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)
|
rs587782286
|
|
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter)
|
rs201529791
|
|
NM_058216.3(RAD51C):c.675del (p.Leu226fs)
|
rs2048274544
|
|
NM_058216.3(RAD51C):c.688del (p.Leu230fs)
|
rs2143801496
|
|
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
|
rs2047807048
|
|
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer)
|
rs2143801795
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.704del (p.Lys235fs)
|
rs1567794476
|
|
NM_058216.3(RAD51C):c.704dup (p.Val236fs)
|
rs1567794476
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs)
|
rs775482687
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
|
|
|
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)
|
rs1567782936
|
|
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
|
|
|
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
|
|
|
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
|
|
|
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer)
|
rs2143852568
|
|
NM_058216.3(RAD51C):c.795del (p.Ala266fs)
|
rs2143853617
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)
|
rs1567799818
|
|
NM_058216.3(RAD51C):c.82dup (p.Val28fs)
|
rs2143677258
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.837+5G>A
|
|
|
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
|
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.860del (p.Thr287fs)
|
rs2143930383
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
NM_058216.3(RAD51C):c.905-1G>A
|
rs2143961181
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
NM_058216.3(RAD51C):c.910del (p.Ser304fs)
|
rs1555603011
|
|
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)
|
rs2143961567
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter)
|
rs2143963184
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)
|
rs587780840
|
|
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter)
|
rs2144044910
|
|
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
|
|
|
NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr)
|
rs1360531002
|
|
NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp)
|
rs763080896
|
|
NM_130468.3(CHST14):c.[403C>G;410T>A]
|
|
|
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)
|
rs397518432
|
|
NM_130468.4(CHST14):c.156_166del (p.Ser53fs)
|
rs1293915082
|
|
NM_130468.4(CHST14):c.160dup (p.Ser54fs)
|
rs1566969054
|
|
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)
|
rs267606730
|
|
NM_130468.4(CHST14):c.264del (p.Lys89fs)
|
|
|
NM_130468.4(CHST14):c.315del (p.Gln106fs)
|
|
|
NM_130468.4(CHST14):c.453dup (p.Cys152fs)
|
rs1555410747
|
|
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
|
|
|
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs)
|
rs1595869467
|
|
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
|
|
|
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)
|
|
|
NM_130468.4(CHST14):c.755_851del (p.Ser252fs)
|
rs1555410768
|
|
NM_130468.4(CHST14):c.783del (p.Glu262fs)
|
|
|
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter)
|
rs1595869602
|
|
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro)
|
rs397514706
|
|
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu)
|
rs267606729
|
|
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser)
|
rs267606731
|
|
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
|
|
|
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs)
|
rs1555410785
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
NM_133433.4(NIPBL):c.-321_-320delinsA
|
rs724159980
|
|
NM_133433.4(NIPBL):c.-467C>T
|
rs1251456909
|
|
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs)
|
rs1743386760
|
|
NM_133433.4(NIPBL):c.1003del (p.Glu335fs)
|
rs587783877
|
|
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)
|
rs587783878
|
|
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)
|
rs587783879
|
|
NM_133433.4(NIPBL):c.1075dup (p.Thr359fs)
|
|
|
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs)
|
rs587783880
|
|
NM_133433.4(NIPBL):c.10dup (p.Asp4fs)
|
rs2149597479
|
|
NM_133433.4(NIPBL):c.1145del (p.Asn382fs)
|
rs1554015145
|
|
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)
|
rs797045745
|
|
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)
|
rs587783882
|
|
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)
|
rs587783883
|
|
NM_133433.4(NIPBL):c.1320del (p.Asn440fs)
|
rs1580373035
|
|
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
|
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)
|
rs797045746
|
|
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter)
|
rs1561102868
|
|
NM_133433.4(NIPBL):c.1458dup (p.Glu487Ter)
|
rs2149628965
|
|
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)
|
rs587783886
|
|
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
|
|
|
NM_133433.4(NIPBL):c.150del (p.Asn51fs)
|
rs1554011042
|
|
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)
|
rs34314728
|
|
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)
|
rs587783888
|
|
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
|
|
|
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs)
|
rs1554016981
|
|
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
|
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)
|
rs1740842785
|
|
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)
|
rs1580394197
|
|
NM_133433.4(NIPBL):c.1672del (p.Thr558fs)
|
rs2149643317
|
|
NM_133433.4(NIPBL):c.169del (p.Arg57fs)
|
rs1554011046
|
|
NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA
|
rs2149643267
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer)
|
rs2149643596
|
|
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)
|
rs727503767
|
|
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs)
|
rs2149643696
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)
|
rs1740845459
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
NM_133433.4(NIPBL):c.1942del (p.Thr648fs)
|
rs2149644023
|
|
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs)
|
rs1554017175
|
|
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)
|
rs797045748
|
|
NM_133433.4(NIPBL):c.19del (p.His7fs)
|
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
|
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2120del (p.Gly707fs)
|
rs1580396071
|
|
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)
|
rs1744639200
|
|
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)
|
rs797045749
|
|
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs)
|
rs727503766
|
|
NM_133433.4(NIPBL):c.2207del (p.Pro736fs)
|
rs2149644816
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
NM_133433.4(NIPBL):c.226del (p.His76fs)
|
rs1580323151
|
|
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)
|
rs1580396767
|
|
NM_133433.4(NIPBL):c.230+5G>A
|
rs1580323183
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)
|
rs797045750
|
|
NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs)
|
rs1744682329
|
|
NM_133433.4(NIPBL):c.241del (p.Asp81fs)
|
rs1741183871
|
|
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)
|
rs587783902
|
|
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)
|
rs1554017345
|
|
NM_133433.4(NIPBL):c.2464del (p.Gln822fs)
|
rs797045751
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_133433.4(NIPBL):c.2479del (p.Arg827fs)
|
rs1744695193
|
|
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter)
|
rs587783905
|
|
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter)
|
rs587783906
|
|
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)
|
rs587783907
|
|
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
|
|
|
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)
|
rs1554017441
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
|
|
|
NM_133433.4(NIPBL):c.2711del (p.Arg904fs)
|
rs587783909
|
|
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs)
|
rs587783910
|
|
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)
|
|
|
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter)
|
rs587783911
|
|
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs)
|
rs2149646411
|
|
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)
|
rs797045753
|
|
NM_133433.4(NIPBL):c.2903del (p.Asn968fs)
|
rs587783912
|
|
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)
|
rs797045754
|
|
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs)
|
rs2149646812
|
|
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)
|
rs121918264
|
|
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs)
|
rs2149602979
|
|
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter)
|
rs2149646884
|
|
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs)
|
rs2149646890
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)
|
rs1741192008
|
|
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter)
|
rs2149647035
|
|
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter)
|
rs1554017661
|
|
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs)
|
rs587783917
|
|
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter)
|
rs1554019667
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs)
|
rs2149662539
|
|
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs)
|
rs1554019698
|
|
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
|
rs1580425629
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
NM_133433.4(NIPBL):c.3304+1G>A
|
rs1554019712
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
|
rs2149668942
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter)
|
rs2149669144
|
|
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)
|
rs866740147
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
|
rs1580436698
|
|
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer)
|
rs587783923
|
|
NM_133433.4(NIPBL):c.3482del (p.Pro1161fs)
|
|
|
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
|
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)
|
rs1746711848
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del)
|
rs121918266
|
|
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
|
|
|
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)
|
rs1554020997
|
|
NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
|
|
|
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly)
|
rs121918268
|
|
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter)
|
rs2149607039
|
|
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs)
|
rs1746965734
|
|
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs)
|
rs587783930
|
|
NM_133433.4(NIPBL):c.3855+1G>A
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs)
|
rs587783934
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
|
rs1580451470
|
|
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter)
|
rs1561145912
|
|
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)
|
rs587783937
|
|
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter)
|
rs587783938
|
|
NM_133433.4(NIPBL):c.4088-2A>T
|
rs587783939
|
|
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs)
|
rs587783940
|
|
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
|
rs587783941
|
|
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs)
|
|
|
NM_133433.4(NIPBL):c.4240-1G>C
|
rs587783942
|
|
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs)
|
rs587783944
|
|
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs)
|
rs80358386
|
|
NM_133433.4(NIPBL):c.4320+1G>A
|
rs587783945
|
|
NM_133433.4(NIPBL):c.4320+5G>A
|
|
|
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu)
|
rs727503769
|
|
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
|
|
|
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter)
|
rs767317539
|
|
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs)
|
rs2149607105
|
|
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs)
|
rs2149681441
|
|
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter)
|
rs797045760
|
|
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs)
|
rs2149681475
|
|
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter)
|
rs80358369
|
|
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs)
|
rs797045761
|
|
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer)
|
rs797045762
|
|
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter)
|
rs587783950
|
|
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)
|
rs751902505
|
|
NM_133433.4(NIPBL):c.456del (p.Ser153fs)
|
rs587783951
|
|
NM_133433.4(NIPBL):c.458+1_458+2dup
|
rs797045763
|
|
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs)
|
rs797045764
|
|
NM_133433.4(NIPBL):c.459-2A>G
|
rs1561083229
|
|
NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter)
|
rs587783952
|
|
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter)
|
rs587783952
|
|
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)
|
rs121918269
|
|
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs)
|
rs587783953
|
|
NM_133433.4(NIPBL):c.4643+1G>A
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4643+1G>C
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer)
|
rs2149690678
|
|
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs)
|
rs587783957
|
|
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs)
|
rs1554023967
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
|
|
|
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
|
|
|
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer)
|
rs886041810
|
|
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs)
|
rs80358372
|
|
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs)
|
rs587783959
|
|
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs)
|
rs797045766
|
|
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs)
|
rs797045767
|
|
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer)
|
rs797045768
|
|
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs)
|
rs587783960
|
|
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
|
rs797045769
|
|
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs)
|
rs797045770
|
|
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
|
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter)
|
rs730880331
|
|
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter)
|
rs1554025252
|
|
NM_133433.4(NIPBL):c.5269del (p.Val1757fs)
|
rs2149696978
|
|
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter)
|
|
|
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)
|
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.5329-1G>C
|
rs587783969
|
|
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter)
|
rs587783971
|
|
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
|
|
|
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter)
|
rs587783972
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
|
rs587783973
|
|
NM_133433.4(NIPBL):c.5428-2A>G
|
rs587783974
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter)
|
rs587783975
|
|
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter)
|
rs62654864
|
|
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)
|
rs587783978
|
|
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp)
|
rs1749739420
|
|
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter)
|
rs1554025780
|
|
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile)
|
rs1554025796
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs)
|
rs2149702380
|
|
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs)
|
rs797045772
|
|
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
|
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
NM_133433.4(NIPBL):c.5709+2T>G
|
rs587783980
|
|
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs)
|
rs2149704475
|
|
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs)
|
rs797045773
|
|
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser)
|
rs2149704501
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.5808+2T>C
|
rs794727556
|
|
NM_133433.4(NIPBL):c.5808+5G>A
|
rs2149704635
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.5972-1G>C
|
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
|
|
|
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs)
|
rs2149721417
|
|
NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs)
|
rs2149721484
|
|
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs)
|
rs1554030285
|
|
NM_133433.4(NIPBL):c.610+1G>A
|
rs587783993
|
|
NM_133433.4(NIPBL):c.6108+1G>T
|
rs587783994
|
|
NM_133433.4(NIPBL):c.6108+2T>C
|
rs797045775
|
|
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
|
|
|
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
|
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
NM_133433.4(NIPBL):c.6249+5G>A
|
|
|
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
|
rs1554031864
|
|
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter)
|
rs2149732594
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
|
NM_133433.4(NIPBL):c.64+2_64+134del
|
rs1740652803
|
|
NM_133433.4(NIPBL):c.64+3A>C
|
rs587784010
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
|
rs1554032085
|
|
NM_133433.4(NIPBL):c.65-3T>G
|
rs727503768
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
|
|
|
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
NM_133433.4(NIPBL):c.6589+5G>A
|
rs1554032266
|
|
NM_133433.4(NIPBL):c.6590-2A>C
|
rs587784016
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
|
rs587784017
|
|
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr)
|
rs1753199066
|
|
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter)
|
rs80358363
|
|
NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu)
|
rs1554032789
|
|
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs)
|
rs80358361
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)
|
rs587784022
|
|
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer)
|
rs587784021
|
|
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs)
|
rs2149737037
|
|
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
|
rs1579570362
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6763+1G>A
|
rs1753212131
|
|
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter)
|
rs1554032954
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=)
|
|
|
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
|
|
|
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter)
|
rs587784026
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
NM_133433.4(NIPBL):c.6955-2A>C
|
rs2149741447
|
|
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs)
|
rs1561214997
|
|
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs)
|
rs587784029
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs)
|
rs2149741562
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
|
|
|
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter)
|
rs587784033
|
|
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs)
|
rs587784034
|
|
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
|
|
|
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter)
|
rs1057516034
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro)
|
rs765741574
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys)
|
rs121918265
|
|
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs)
|
rs1561222491
|
|
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val)
|
rs2149750114
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)
|
rs587784043
|
|
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
|
|
|
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
|
|
|
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro)
|
rs727503772
|
|
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs)
|
rs587784047
|
|
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs)
|
rs1554035266
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs)
|
rs1754594011
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter)
|
rs80358371
|
|
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs)
|
rs797045783
|
|
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs)
|
rs2149755630
|
|
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
|
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs)
|
rs1754603855
|
|
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
|
|
|
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer)
|
rs2149755687
|
|
NM_133433.4(NIPBL):c.7861-1G>C
|
rs1561231553
|
|
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs)
|
rs727503771
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)
|
rs2149621638
|
|
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs)
|
rs2149759954
|
|
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs)
|
rs1755082448
|
|
NM_133433.4(NIPBL):c.8049+1G>A
|
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs)
|
rs797045787
|
|
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs)
|
rs587784055
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer)
|
rs1755224830
|
|
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs)
|
rs797045789
|
|
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
|
rs398124474
|
|
NM_133433.4(NIPBL):c.869-1G>A
|
rs587784059
|
|
NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
|
|
|
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)
|
rs587784062
|
|
NM_133433.4(NIPBL):c.892del (p.Gln298fs)
|
rs587784063
|
|
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter)
|
rs727503770
|
|
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
|
NM_138959.3(VANGL1):c.838del (p.Val279_Leu280insTer)
|
rs2101027831
|
|
NM_139055.4(ADAMTS15):c.123C>G (p.Tyr41Ter)
|
|
|
NM_139055.4(ADAMTS15):c.1903-2A>G
|
|
|
NM_139055.4(ADAMTS15):c.2281G>A (p.Gly761Ser)
|
|
|
NM_139055.4(ADAMTS15):c.2715C>G (p.Cys905Trp)
|
|
|
NM_139284.3(LGI4):c.1299+5G>T
|
rs1064797095
|
|
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)
|
rs1207534366
|
|
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)
|
rs755500591
|
|
NM_139284.3(LGI4):c.793+5G>C
|
rs1064797093
|
|
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)
|
rs775997446
|
|
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)
|
rs727503778
|
|
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter)
|
rs2151750076
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
|
|
|
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
|
|
|
NM_147127.5(EVC2):c.1108del (p.Ser370fs)
|
rs2108895910
|
|
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
|
|
|
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
|
|
|
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter)
|
rs1345487794
|
|
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)
|
rs2151750059
|
|
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)
|
rs372215987
|
|
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter)
|
rs1717259479
|
|
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter)
|
rs2108863739
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
|
|
|
NM_147127.5(EVC2):c.1470+1dup
|
rs1717244500
|
|
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs)
|
rs2108851802
|
|
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
|
|
|
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter)
|
rs2108851695
|
|
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs)
|
rs1560180583
|
|
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
|
|
|
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
|
rs1284395468
|
|
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
|
|
|
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
|
|
|
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs)
|
rs2108847232
|
|
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
|
|
|
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
|
|
|
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs)
|
rs2108847014
|
|
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
|
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.1991dup (p.Lys665fs)
|
rs2108843224
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
|
|
|
NM_147127.5(EVC2):c.2010del (p.Lys670fs)
|
rs2108843186
|
|
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter)
|
rs2108843158
|
|
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
|
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
|
|
|
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
|
|
|
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
|
|
|
NM_147127.5(EVC2):c.205del (p.Ala69fs)
|
rs1400121444
|
|
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs)
|
rs1715829134
|
|
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
|
|
|
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
|
|
|
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
|
|
|
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter)
|
rs2108839112
|
|
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
|
|
|
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
|
|
|
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
|
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
|
|
|
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
|
|
|
NM_147127.5(EVC2):c.2405del (p.Gly802fs)
|
rs2108838579
|
|
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
|
|
|
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)
|
rs1715768907
|
|
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
|
|
|
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs)
|
rs2108833500
|
|
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
|
|
|
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter)
|
rs2151739558
|
|
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
|
|
|
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
|
|
|
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
|
|
|
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs)
|
rs2108833230
|
|
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)
|
rs981099037
|
|
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
|
|
|
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
|
|
|
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter)
|
rs2108829049
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_147127.5(EVC2):c.2746del (p.Ser916fs)
|
rs886037763
|
|
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
|
|
|
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer)
|
rs765076649
|
|
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
|
rs1301855639
|
|
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
|
|
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
|
|
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
|
|
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter)
|
rs145425340
|
|
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
|
|
|
NM_147127.5(EVC2):c.2954del (p.Tyr985fs)
|
rs2108788549
|
|
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)
|
rs60809236
|
|
NM_147127.5(EVC2):c.3057+1del
|
rs772639262
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.30dup (p.Thr11fs)
|
rs1442303442
|
|
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
|
rs200560762
|
|
NM_147127.5(EVC2):c.314del (p.Lys105fs)
|
|
|
NM_147127.5(EVC2):c.3194del (p.Asp1065fs)
|
rs2108778725
|
|
NM_147127.5(EVC2):c.3239del (p.Lys1080fs)
|
rs1291275281
|
|
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
|
|
|
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
|
|
|
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
|
rs1722814486
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
|
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
|
rs1722452431
|
|
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
|
|
|
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)
|
rs1722451930
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs)
|
rs2108770774
|
|
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
|
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
|
|
|
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
|
rs1577095782
|
|
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer)
|
rs2108767230
|
|
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)
|
rs369739594
|
|
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
|
|
|
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
|
|
|
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)
|
rs769520928
|
|
NM_147127.5(EVC2):c.3793del (p.Leu1265fs)
|
rs587776568
|
|
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)
|
rs1560121645
|
|
NM_147127.5(EVC2):c.390dup (p.Ile131fs)
|
rs1253403779
|
|
NM_147127.5(EVC2):c.392dup (p.Pro132fs)
|
rs774416029
|
|
NM_147127.5(EVC2):c.420del (p.Phe140fs)
|
|
|
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
|
|
|
NM_147127.5(EVC2):c.449del (p.Leu150fs)
|
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.519+1G>A
|
|
|
NM_147127.5(EVC2):c.519+2T>C
|
rs1721102486
|
|
NM_147127.5(EVC2):c.519+2T>G
|
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
|
|
|
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
|
|
|
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)
|
rs779857359
|
|
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)
|
rs745404766
|
|
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
|
rs999964757
|
|
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
|
|
|
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
|
|
|
NM_147127.5(EVC2):c.707-2A>C
|
rs1302074641
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
|
|
|
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)
|
rs2151728030
|
|
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
|
|
|
NM_147127.5(EVC2):c.816+1G>T
|
rs1355905411
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter)
|
rs2151724149
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.826_827del (p.Gln276fs)
|
rs758841632
|
|
NM_147127.5(EVC2):c.850del (p.Thr284fs)
|
rs886044525
|
|
NM_147127.5(EVC2):c.86del (p.Gly29fs)
|
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.876_892dup (p.His298fs)
|
rs2108900159
|
|
NM_147127.5(EVC2):c.903del (p.Phe302fs)
|
rs1560208675
|
|
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
|
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_152274.5(CCNQ):c.303dup (p.Asn102Ter)
|
rs1569536891
|
|
NM_152274.5(CCNQ):c.657+1G>A
|
rs1569536789
|
|
NM_152274.5(CCNQ):c.658-1G>A
|
rs63749972
|
|
NM_152328.5(ADSS1):c.741del (p.Lys248fs)
|
rs769542442
|
|
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs)
|
rs745627738
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
|
|
|
NM_153717.3(EVC):c.1086del (p.Glu362fs)
|
|
|
NM_153717.3(EVC):c.1114del (p.Thr372fs)
|
|
|
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
|
|
|
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)
|
rs1560340266
|
|
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)
|
rs2152076522
|
|
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
|
|
|
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
|
rs1730623318
|
|
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
|
|
|
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)
|
rs2152076745
|
|
NM_153717.3(EVC):c.1312del (p.Arg438fs)
|
rs1560340993
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)
|
rs1553876034
|
|
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
|
|
|
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
|
|
|
NM_153717.3(EVC):c.1494del (p.Arg498fs)
|
rs2152094799
|
|
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)
|
rs373088008
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.155del (p.Arg52fs)
|
rs1439712140
|
|
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
|
|
|
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
|
|
|
NM_153717.3(EVC):c.1618del (p.Leu540fs)
|
|
|
NM_153717.3(EVC):c.1652del (p.Pro551fs)
|
rs1312383000
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
|
|
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)
|
rs751772225
|
|
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)
|
rs539010490
|
|
NM_153717.3(EVC):c.16del (p.Ala6fs)
|
rs2151766718
|
|
NM_153717.3(EVC):c.174+1G>T
|
rs2151768710
|
|
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs)
|
rs2152289369
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
|
|
|
NM_153717.3(EVC):c.1777-2A>C
|
|
|
NM_153717.3(EVC):c.1783_1886+40del
|
rs2152326431
|
|
NM_153717.3(EVC):c.1818_1821del (p.His607fs)
|
rs2152326544
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
|
|
|
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs)
|
rs2152326770
|
|
NM_153717.3(EVC):c.1886+5G>A
|
rs794726665
|
|
NM_153717.3(EVC):c.1900del (p.Val634fs)
|
|
|
NM_153717.3(EVC):c.1971del (p.Thr658fs)
|
rs2152340509
|
|
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
|
|
|
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
|
|
|
NM_153717.3(EVC):c.203del (p.Asn68fs)
|
rs1560274093
|
|
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
|
|
|
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
|
|
|
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs)
|
rs2152345583
|
|
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
|
rs1714412021
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
|
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.2365del (p.Leu789fs)
|
|
|
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
|
|
|
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
|
|
|
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
|
|
|
NM_153717.3(EVC):c.241dup (p.Ser81fs)
|
|
|
NM_153717.3(EVC):c.2457del (p.Met820fs)
|
rs794726666
|
|
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
|
|
|
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)
|
rs2152375194
|
|
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
|
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
|
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2561+1dup
|
rs2152375437
|
|
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)
|
rs1425513399
|
|
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer)
|
rs2152387847
|
|
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
|
|
|
NM_153717.3(EVC):c.267_274del (p.Glu89fs)
|
rs2151842413
|
|
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
|
|
|
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)
|
rs1039706882
|
|
NM_153717.3(EVC):c.2705del (p.Phe902fs)
|
rs2152391901
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.286A>T (p.Lys96Ter)
|
rs2151842550
|
|
NM_153717.3(EVC):c.338dup (p.Ala114fs)
|
rs2151919221
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.369del (p.Asn124fs)
|
|
|
NM_153717.3(EVC):c.37_38del (p.Arg13fs)
|
rs1722986802
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.478_481del (p.Ser160fs)
|
rs2151935449
|
|
NM_153717.3(EVC):c.528del (p.Ser177fs)
|
rs1381525157
|
|
NM_153717.3(EVC):c.539C>A (p.Ser180Ter)
|
rs762136199
|
|
NM_153717.3(EVC):c.568dup (p.Arg190fs)
|
|
|
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer)
|
rs2151935987
|
|
NM_153717.3(EVC):c.596del (p.Pro199fs)
|
|
|
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
|
rs553634958
|
|
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
|
|
|
NM_153717.3(EVC):c.618-2A>G
|
|
|
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
|
|
|
NM_153717.3(EVC):c.635del (p.Cys212fs)
|
rs2151945937
|
|
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
|
|
|
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
|
|
|
NM_153717.3(EVC):c.673del (p.Asp225fs)
|
rs2151946081
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.708dup (p.Ile237fs)
|
|
|
NM_153717.3(EVC):c.720dup (p.Lys241Ter)
|
rs1553871764
|
|
NM_153717.3(EVC):c.721A>T (p.Lys241Ter)
|
rs2152000498
|
|
NM_153717.3(EVC):c.724dup (p.Met242fs)
|
rs1577395250
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.784del (p.Leu262fs)
|
rs1560315890
|
|
NM_153717.3(EVC):c.784dup (p.Leu262fs)
|
|
|
NM_153717.3(EVC):c.788C>G (p.Ser263Ter)
|
rs2152001027
|
|
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
|
rs1251648799
|
|
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
|
|
|
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
|
rs1729197529
|
|
NM_153717.3(EVC):c.90del (p.Ala31fs)
|
rs1196950486
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
|
|
|
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)
|
rs1729654379
|
|
NM_153717.3(EVC):c.986_987del (p.Val329fs)
|
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1609-12T>G
|
rs267607582
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1138del (p.Ala380fs)
|
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1264del (p.Ser422fs)
|
rs1258346283
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
|
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
|
|
|
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
|
|
|
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)
|
rs550024569
|
|
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
|
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
NM_173660.5(DOK7):c.757_772+3del
|
|
|
NM_173660.5(DOK7):c.810_811del (p.His272fs)
|
rs778227501
|
|
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
|
|
|
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
|
|
|
NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
|
|
|
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
|
NM_178565.5(RSPO2):c.125del (p.Gly42fs)
|
rs1554579568
|
|
NM_178565.5(RSPO2):c.409G>T (p.Glu137Ter)
|
rs1554576888
|
|
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter)
|
rs1565923887
|
|
NM_181486.4(TBX5):c.105del (p.Ser36fs)
|
rs1057516042
|
|
NM_181486.4(TBX5):c.105dup (p.Ser36fs)
|
rs1057516042
|
|
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
|
|
|
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter)
|
rs765204502
|
|
NM_181486.4(TBX5):c.1158dup (p.Ser387fs)
|
rs1064795870
|
|
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter)
|
rs903933027
|
|
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)
|
rs377649723
|
|
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter)
|
rs756049331
|
|
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
|
|
|
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
|
|
|
NM_181486.4(TBX5):c.148-3C>A
|
|
|
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr)
|
rs104894384
|
|
NM_181486.4(TBX5):c.166del (p.Val56fs)
|
rs2136421561
|
|
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter)
|
rs104894377
|
|
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)
|
rs104894381
|
|
NM_181486.4(TBX5):c.246_249del (p.Met83fs)
|
rs1565941587
|
|
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter)
|
rs767197919
|
|
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter)
|
rs2136418232
|
|
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter)
|
rs1565941529
|
|
NM_181486.4(TBX5):c.336del (p.His112fs)
|
|
|
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter)
|
rs1871662633
|
|
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter)
|
rs1565941422
|
|
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
|
|
|
NM_181486.4(TBX5):c.362+1G>A
|
rs1871659583
|
|
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)
|
rs104894379
|
|
NM_181486.4(TBX5):c.416del (p.Pro139fs)
|
rs1593880204
|
|
NM_181486.4(TBX5):c.426del (p.Ala143fs)
|
|
|
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)
|
rs1555226315
|
|
NM_181486.4(TBX5):c.457dup (p.Val153fs)
|
|
|
NM_181486.4(TBX5):c.496del (p.Asp166fs)
|
|
|
NM_181486.4(TBX5):c.500del (p.Pro167fs)
|
|
|
NM_181486.4(TBX5):c.529del (p.His177fs)
|
|
|
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter)
|
rs1565939337
|
|
NM_181486.4(TBX5):c.538del (p.Gln180fs)
|
rs1593876058
|
|
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)
|
rs1565939303
|
|
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)
|
rs886041247
|
|
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
|
|
|
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
|
|
|
NM_181486.4(TBX5):c.672del (p.Gln224fs)
|
|
|
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter)
|
rs1565935432
|
|
NM_181486.4(TBX5):c.680_683del (p.Ile227fs)
|
rs1565935410
|
|
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)
|
|
|
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)
|
rs1565935397
|
|
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)
|
rs104894382
|
|
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
|
|
|
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
|
|
|
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs)
|
rs1565943328
|
|
NM_181486.4(TBX5):c.756-2A>G
|
rs1869545659
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe)
|
rs1565927794
|
|
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)
|
rs1565927747
|
|
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter)
|
rs1565927740
|
|
NM_181486.4(TBX5):c.905del (p.Gln302fs)
|
rs1869529188
|
|
NM_181486.4(TBX5):c.924del (p.Asn309fs)
|
|
|
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)
|
rs1565927664
|
|
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)
|
rs1565927645
|
|
NM_181486.4(TBX5):c.978del (p.Glu328fs)
|
|
|
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro)
|
rs764239923
|
|
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter)
|
rs368085516
|
|
NM_181789.4(GLDN):c.541+1G>A
|
rs886041057
|
|
NM_181789.4(GLDN):c.758del (p.Pro253fs)
|
rs886041056
|
|
NM_181789.4(GLDN):c.980_981del (p.Ser327fs)
|
rs755420151
|
|
NM_182895.5(SCARF2):c.1104C>A (p.Tyr368Ter)
|
rs921038430
|
|
NM_182895.5(SCARF2):c.1328_1329del (p.Val443fs)
|
rs587776902
|
|
NM_182895.5(SCARF2):c.1425-11dup
|
rs773570373
|
|
NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg)
|
rs587777657
|
|
NM_182895.5(SCARF2):c.220G>T (p.Glu74Ter)
|
rs2146133110
|
|
NM_182895.5(SCARF2):c.2531del (p.Gln844fs)
|
rs587777658
|
|
NM_182895.5(SCARF2):c.441_457del (p.Trp148fs)
|
rs786205883
|
|
NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1])
|
rs2146131503
|
|
NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp)
|
rs2146130979
|
|
NM_182895.5(SCARF2):c.773G>A (p.Cys258Tyr)
|
rs387907086
|
|
NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)
|
|
|
NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)
|
|
|
NM_182961.4(SYNE1):c.24313-2A>G
|
rs1586285494
|
|
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)
|
rs749355583
|
|
NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)
|
rs793888524
|
|
NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)
|
rs2115031969
|
|
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)
|
rs793888525
|
|
P127L
|
|
|
SMC1A, 8.152-KB DEL
|
|
|
Single allele
|
|
|
TP63, VAL114MET
|
|
|
ZRS, 295T-C
|
|
|
ZRS, 297G-A
|
|
|
ZRS, 328C-G
|
|
|
ZRS, 329T-C
|
|
|
ZRS, 334T-G
|
|
|
ZRS, 396C-T
|
|
|
ZRS, 404G-C
|
|
|
ZRS, 406A-G
|
|
|
ZRS, 621C-G
|
|
|
ZRS, 739A-G
|
|
|
nsv491550
|
|
|