NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)
|
rs765769406
|
0.00002
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000312.4(PROC):c.479G>C (p.Cys160Ser)
|
rs1450037999
|
0.00001
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)
|
rs28937318
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)
|
rs1170430756
|
0.00001
|
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)
|
rs774711057
|
0.00001
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_022552.5(DNMT3A):c.1937-2A>G
|
rs770305758
|
0.00001
|
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1
|
|
|
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
|
|
|
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)
|
rs2139065261
|
|
NM_000020.3(ACVRL1):c.68del (p.Pro23fs)
|
rs2139064139
|
|
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter)
|
rs2139073064
|
|
NM_000030.3(AGXT):c.642del (p.Pro215fs)
|
rs2106429906
|
|
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
|
|
|
NM_000038.6(APC):c.460dup (p.Glu154fs)
|
rs2149614987
|
|
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)
|
rs1135401953
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)
|
rs1131692320
|
|
NM_000091.5(COL4A3):c.2746+1G>T
|
rs1574786225
|
|
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)
|
rs2106226493
|
|
NM_000092.5(COL4A4):c.2860+2T>G
|
rs2150219160
|
|
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
|
|
|
NM_000132.4(F8):c.639_651dup (p.Phe218fs)
|
rs2124134352
|
|
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
|
|
|
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
|
|
|
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
|
|
|
NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs)
|
rs1787109472
|
|
NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)
|
|
|
NM_000179.3(MSH6):c.3600_3609del (p.Ile1200fs)
|
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1325del (p.His442fs)
|
rs1135401944
|
|
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs)
|
rs1846542419
|
|
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs)
|
rs1554920580
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1685+2T>C
|
rs1590081467
|
|
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.604+2T>C
|
rs1848322089
|
|
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)
|
rs794728512
|
|
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)
|
rs397508127
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
NM_000238.4(KCNH2):c.1102del (p.His368fs)
|
rs1584863723
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter)
|
rs199472892
|
|
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala)
|
rs1584856497
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter)
|
rs1563156868
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu)
|
rs199472974
|
|
NM_000238.4(KCNH2):c.1967del (p.Phe656fs)
|
rs1801136696
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs)
|
rs1584883087
|
|
NM_000238.4(KCNH2):c.2398+2T>A
|
rs1563152963
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2456del (p.Asn819fs)
|
rs794728446
|
|
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs)
|
rs1584847173
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2705del (p.Pro902fs)
|
rs1563148264
|
|
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs)
|
rs2116933757
|
|
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
|
|
|
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs)
|
rs1131692327
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs)
|
rs794728504
|
|
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs)
|
rs1584843078
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter)
|
rs1554423863
|
|
NM_000238.4(KCNH2):c.453del (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.678del (p.Ala228fs)
|
rs794728496
|
|
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val)
|
rs1801941580
|
|
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs)
|
rs2125957613
|
|
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs)
|
rs1595846398
|
|
NM_000297.4(PKD2):c.1320-2del
|
rs1578135823
|
|
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
|
|
|
NM_000297.4(PKD2):c.2844del (p.Ser949fs)
|
rs1721205608
|
|
NM_000297.4(PKD2):c.316del (p.Glu106fs)
|
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
NM_000312.4(PROC):c.400+2T>C
|
rs2104953327
|
|
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
|
|
|
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
|
|
|
NM_000313.4(PROS1):c.1870+1G>C
|
rs780859898
|
|
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
|
|
|
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser)
|
rs2107158284
|
|
NM_000313.4(PROS1):c.76+2_76+3del
|
rs2107279030
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter)
|
rs199473579
|
|
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)
|
rs199473172
|
|
NM_000335.5(SCN5A):c.2787+2T>A
|
rs2061653258
|
|
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs)
|
rs794728918
|
|
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)
|
rs199473556
|
|
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter)
|
rs199473598
|
|
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter)
|
rs587781159
|
|
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter)
|
rs1559727990
|
|
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter)
|
rs1553605932
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu)
|
rs199473310
|
|
NM_000335.5(SCN5A):c.611+1G>A
|
rs794728843
|
|
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
|
|
|
NM_000390.4(CHM):c.703-2A>G
|
rs2147667674
|
|
NM_000390.4(CHM):c.846dup (p.Asn283Ter)
|
rs2147665855
|
|
NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe)
|
rs1555730176
|
|
NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)
|
|
|
NM_000488.4(SERPINC1):c.1219-2A>G
|
rs2102773374
|
|
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
|
|
|
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000506.5(F2):c.1088G>A (p.Arg363His)
|
|
|
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
|
|
|
NM_000535.7(PMS2):c.525del (p.Asn176fs)
|
rs2128815756
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter)
|
rs1555103165
|
|
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
|
rs1085307547
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)
|
rs199473382
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
|
|
|
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
|
|
|
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)
|
rs2151710347
|
|
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)
|
rs1555445999
|
|
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs)
|
rs2091440383
|
|
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
|
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs)
|
rs2092538008
|
|
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)
|
rs2151799399
|
|
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs)
|
rs754820795
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
|
|
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter)
|
rs753749502
|
|
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs)
|
rs2151791178
|
|
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs)
|
rs2151789587
|
|
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs)
|
rs1596551138
|
|
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
|
|
|
NM_001009944.3(PKD1):c.678G>A (p.Glu226=)
|
rs2092673013
|
|
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs)
|
rs2151785622
|
|
NM_001009944.3(PKD1):c.707del (p.Gln236fs)
|
rs2092672656
|
|
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
|
|
|
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs)
|
rs2151766664
|
|
NM_001009944.3(PKD1):c.8162-2A>G
|
rs2092209753
|
|
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
|
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
|
|
|
NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)
|
rs2115362674
|
|
NM_001031710.3(KLHL7):c.1197_1200del (p.Phe400fs)
|
rs2128469724
|
|
NM_001032221.6(STXBP1):c.325+5G>A
|
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)
|
rs1291829047
|
|
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)
|
rs1553343100
|
|
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)
|
rs1898687282
|
|
NM_001080512.3(BICC1):c.93del (p.Glu32fs)
|
rs2132481650
|
|
NM_001080517.3(SETD5):c.1416dup (p.Val473fs)
|
|
|
NM_001080517.3(SETD5):c.489dup (p.Val164fs)
|
rs2125111250
|
|
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)
|
rs1131691735
|
|
NM_001083962.2(TCF4):c.655+1G>T
|
rs587784465
|
|
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs)
|
rs2065925520
|
|
NM_001110792.2(MECP2):c.988dup (p.Glu330fs)
|
rs1603308287
|
|
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs)
|
rs2074373583
|
|
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
|
|
|
NM_001114753.3(ENG):c.524-1G>A
|
rs2131889572
|
|
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer)
|
rs886041108
|
|
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)
|
rs1600272344
|
|
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)
|
rs2056600391
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs)
|
rs2139470170
|
|
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter)
|
rs1888108124
|
|
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
NM_001197104.2(KMT2A):c.11071+1G>A
|
rs1555049702
|
|
NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)
|
|
|
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)
|
|
|
NM_001197104.2(KMT2A):c.7155del (p.His2385fs)
|
rs2134389341
|
|
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)
|
|
|
NM_001204.7(BMPR2):c.1519_1520insAT (p.Ile507fs)
|
rs2106042216
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)
|
rs2141802487
|
|
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
|
|
|
NM_001282531.3(ADNP):c.2167del (p.Glu723fs)
|
rs2122746230
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs)
|
rs2122742586
|
|
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)
|
rs779685748
|
|
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter)
|
rs2134007236
|
|
NM_001330078.2(NRXN1):c.773-1G>T
|
rs1574949440
|
|
NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)
|
|
|
NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)
|
|
|
NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)
|
|
|
NM_001352027.3(PHF21A):c.1724C>A (p.Ser575Ter)
|
|
|
NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)
|
|
|
NM_001356.5(DDX3X):c.1171-1G>C
|
rs1602134459
|
|
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
|
|
|
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)
|
rs2145192570
|
|
NM_001369268.1(ACAN):c.2002dup (p.Arg668fs)
|
|
|
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
|
|
|
NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
|
|
|
NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
|
|
|
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val)
|
rs2128633891
|
|
NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)
|
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter)
|
rs1248889536
|
|
NM_001387430.1(SH2B1):c.952C>T (p.Arg318Ter)
|
rs2152178267
|
|
NM_001845.6(COL4A1):c.2458+1G>C
|
rs1878012979
|
|
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter)
|
rs1559474364
|
|
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter)
|
rs1559474966
|
|
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer)
|
rs2078141730
|
|
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)
|
rs2140979845
|
|
NM_002890.2:c.540-406_692+21735del
|
|
|
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
|
|
|
NM_003611.3(OFD1):c.363del (p.Ser122fs)
|
rs1555901146
|
|
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
|
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)
|
rs1567309482
|
|
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)
|
rs1554774575
|
|
NM_004463.3(FGD1):c.679del (p.Ser227fs)
|
rs1922859149
|
|
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
|
|
|
NM_004859.4(CLTC):c.2438del (p.Pro813fs)
|
|
|
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter)
|
rs2143593640
|
|
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr)
|
rs1594383648
|
|
NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu)
|
|
|
NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)
|
|
|
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
|
|
|
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter)
|
rs1937166346
|
|
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)
|
rs1555162323
|
|
NM_006343.3(MERTK):c.2190-2A>G
|
rs2104423657
|
|
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs)
|
rs1557646673
|
|
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)
|
|
|
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
|
|
|
NM_006662.3(SRCAP):c.5690_5697del (p.Arg1897fs)
|
|
|
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)
|
rs1564038539
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs)
|
rs1777174302
|
|
NM_006940.6(SOX5):c.959del (p.Pro320fs)
|
rs2079966010
|
|
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter)
|
rs2114446923
|
|
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter)
|
rs2135739220
|
|
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs)
|
rs2151763801
|
|
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs)
|
rs2034516672
|
|
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)
|
rs2151730563
|
|
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer)
|
rs1575817869
|
|
NM_014516.4(CNOT3):c.1373dup (p.Ser459fs)
|
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)
|
rs1553961585
|
|
NM_014795.4(ZEB2):c.2303del (p.Asn768fs)
|
rs1703267358
|
|
NM_015057.5(MYCBP2):c.2143C>T (p.Arg715Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer)
|
rs1555250044
|
|
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
|
rs1879220710
|
|
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter)
|
rs2137287115
|
|
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
|
|
|
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)
|
rs1057517708
|
|
NM_015570.4(AUTS2):c.1913del (p.Pro638fs)
|
rs2129558877
|
|
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
|
|
|
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
|
|
|
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)
|
rs776201118
|
|
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
|
|
|
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter)
|
rs1131692325
|
|
NM_017780.4(CHD7):c.8076+1G>C
|
rs1563671108
|
|
NM_017799.4(TMEM260):c.1410C>A (p.Tyr470Ter)
|
|
|
NM_017799.4(TMEM260):c.862del (p.Gln288fs)
|
|
|
NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)
|
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs)
|
rs1554730137
|
|
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
|
|
|
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter)
|
rs1553187446
|
|
NM_020699.4(GATAD2B):c.185del (p.Glu62fs)
|
rs1570938014
|
|
NM_021224.6(ZNF462):c.3937del (p.His1313fs)
|
|
|
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)
|
rs1554856042
|
|
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter)
|
rs2129277991
|
|
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)
|
rs1131692328
|
|
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer)
|
rs1581321541
|
|
NM_022552.5(DNMT3A):c.2322+1G>A
|
rs903011938
|
|
NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)
|
|
|
NM_024120.5(NDUFAF5):c.223-2A>T
|
|
|
NM_024665.7(TBL1XR1):c.419dup (p.Ile141fs)
|
rs2108496178
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter)
|
rs1179499890
|
|
NM_030665.4(RAI1):c.4271del (p.Phe1424fs)
|
rs2143002950
|
|
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)
|
rs1603290131
|
|
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
|
|
|
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
|
rs2067083148
|
|
NM_033380.3(COL4A5):c.311del (p.Pro104fs)
|
rs1603278993
|
|
NM_033380.3(COL4A5):c.4316-1G>T
|
rs281874734
|
|
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)
|
rs1569509234
|
|
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
|
|
|
NM_057175.5(NAA15):c.995T>G (p.Leu332Ter)
|
rs2110935239
|
|
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs)
|
rs1554642573
|
|
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)
|
|
|
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
|
rs1581910796
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)
|
|
|
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)
|
rs58362413
|
|
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)
|
rs1555850403
|
|
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)
|
|
|
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)
|
rs1554226673
|
|
NM_197968.4(ZMYM2):c.2494-2A>G
|
|
|
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs)
|
rs1698415634
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.4685delinsAT (p.Ser1562fs)
|
|
|
NM_207037.2(TCF12):c.786dup (p.Ser263fs)
|
rs1597483678
|
|
Single allele
|
|
|