NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe)
|
rs200566427
|
0.00019
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)
|
rs149889416
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_004614.5(TK2):c.103C>T (p.Gln35Ter)
|
rs886041321
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)
|
rs966111552
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)
|
rs768737101
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)
|
rs768809293
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter)
|
rs1215854055
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)
|
rs373569027
|
0.00001
|
NM_206933.4(USH2A):c.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
|
rs2149880355
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000038.6(APC):c.835-7T>G
|
rs1554079128
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer)
|
rs2135704461
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
|
|
|
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs)
|
rs397507583
|
|
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)
|
rs1555282658
|
|
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)
|
rs587782014
|
|
NM_000059.4(BRCA2):c.2748del (p.Cys916fs)
|
rs886040443
|
|
NM_000059.4(BRCA2):c.2786del (p.Leu929fs)
|
rs80359347
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)
|
rs1555283173
|
|
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs)
|
rs2137495606
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs)
|
rs2137530913
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1_7435+372del
|
rs2137555065
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
rs886040778
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3557-3_3573del
|
rs2104521349
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000249.3(MLH1):c.546-?_1731+?dup
|
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.116+3A>G
|
rs1553637475
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
|
rs1575538276
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.208-3C>T
|
rs267607720
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)
|
rs267607939
|
|
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)
|
rs1553369194
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter)
|
rs2040730164
|
|
NM_000455.5(STK11):c.291-2_374+91del
|
rs2145420502
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
|
rs2128672286
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
NM_000535.7(PMS2):c.989-85_1144+3del
|
rs2128746806
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.731del (p.Gly244fs)
|
rs2151021047
|
|
NM_000552.5(VWF):c.8069_8070insA (p.Thr2691fs)
|
rs2136339259
|
|
NM_000553.6(WRN):c.2968-1G>A
|
rs1300106191
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA
|
rs370237172
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_001009944.2(PKD1):c.8017-?_8161+?dup
|
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.1202-2A>T
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg)
|
rs1555454145
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)
|
rs2092263697
|
|
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del)
|
rs1555451280
|
|
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
|
rs1397537890
|
|
NM_001038.6(SCNN1A):c.1439+1G>T
|
rs1369791519
|
|
NM_001039141.3(TRIOBP):c.1866_1867del (p.Asp622fs)
|
rs2145833327
|
|
NM_001044385.3(TMEM237):c.241C>T (p.Gln81Ter)
|
rs2105902326
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT
|
rs875989801
|
|
NM_001277115.2(DNAH11):c.13163-1G>A
|
rs762596479
|
|
NM_001317163.2(C5):c.79del (p.Cys27fs)
|
rs1362872776
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer)
|
rs775055596
|
|
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
|
rs775832077
|
|
NM_004153.4(ORC1):c.692del (p.Pro231fs)
|
rs1362231446
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.2029C>T (p.Gln677Ter)
|
rs2152139412
|
|
NM_006859.4(LIAS):c.715del (p.Glu239fs)
|
rs1560669563
|
|
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)
|
rs2145750415
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1994del (p.Asn665fs)
|
rs1555590714
|
|
NM_007294.4(BRCA1):c.3334del (p.Glu1112fs)
|
rs1555587944
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NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
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rs80356862
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NM_007294.4(BRCA1):c.4986+3G>C
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rs80358023
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NM_007294.4(BRCA1):c.4986+4A>T
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rs80358087
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NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
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rs80356993
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NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
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rs886040864
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NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
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rs80357104
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NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
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rs80357227
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NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
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rs863224765
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NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
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rs1555574739
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NM_007294.4(BRCA1):c.5468-2A>G
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rs398122699
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NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
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rs80356959
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NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
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rs80357299
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NM_016343.4(CENPF):c.6376_6387delinsTGAAAAGAA (p.Val2126_Glu2129delinsTer)
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rs2102566615
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NM_016343.4(CENPF):c.6387_6388insAA (p.Ala2130fs)
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rs2102566666
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NM_024675.4(PALB2):c.2997-161_3113+4del
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rs2142325910
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NM_024675.4(PALB2):c.3351-150_*2del
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rs2142250624
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NM_024675.4(PALB2):c.892_893del (p.Val298fs)
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rs2142431841
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NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
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rs2136333791
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NM_033360.4(KRAS):c.57G>T (p.Leu19Phe)
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rs121913538
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NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del)
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rs1554218506
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NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
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rs1583446897
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NM_181882.3(PRX):c.1972C>T (p.Gln658Ter)
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rs2145729505
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NM_182961.4(SYNE1):c.2383C>T (p.Gln795Ter)
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rs2154265455
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NM_198488.5(FAM83H):c.2377del (p.Leu793fs)
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rs2129664310
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Single allele
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