ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5676
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HGVS dbSNP gnomAD frequency
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
NC_000009.11:g.(?_98002921)_(98011661_?)del
NC_000009.11:g.(?_98009704)_(98009808_?)del
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
NC_000009.12:g.(?_110668885)_(110801008_?)del
NC_000009.12:g.(?_110734231)_(110734395_?)del
NC_000009.12:g.(?_136496061)_(136523989_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000009.12:g.136545168_136630028del
NC_000009.12:g.35079242del
NC_000010.10:g.(?_73970434)_(73973122_?)del
NC_000010.11:g.72138925_72163147del
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
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NC_000017.10:g.(?_59926480)_(59926627_?)del
NC_000017.10:g.(?_59926480)_(59934602_?)del
NC_000017.10:g.(?_59937147)_(59937278_?)del
NC_000017.10:g.(?_59937147)_(59938900_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)del
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)del
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58692638)_(58734228_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)del
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58703186)_(58734232_?)del
NC_000017.11:g.(?_58703196)_(58709990_?)del
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
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61780255)_(61781011_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
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
NG_031890.1:g.(?_60461)_(94053_?)del
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

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