ClinVar Miner

List of variants reported by Counsyl

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ClinVar version:
Total variants: 20286
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_080704.4(TRPV1):c.-34+7395T>C rs161380 0.83591
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_007294.4(BRCA1):c.-20+101C>G rs799905 0.49338
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_001201543.2(FAM161A):c.1584-11G>A rs17513666 0.17214
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_002878.4(RAD51D):c.234C>T (p.Ser78=) rs9901455 0.15951
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln) rs4796033 0.11973
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_001384140.1(PCDH15):c.157+59097T>C rs75443986 0.09222
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06120
NM_000535.7(PMS2):c.164-108G>C rs12538294 0.06053
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_001127511.3(APC):c.166-29015A>T rs75581138 0.04169
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02877
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02846
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700 0.02374
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_002354.3(EPCAM):c.426-20A>G rs6744170 0.01762
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) rs115244417 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000101.3(CYBA):c.-70G>A rs72550704 0.00941
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_002878.4(RAD51D):c.-238A>T rs188262287 0.00757
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_001142800.2(EYS):c.6726-24613G>T rs151229098 0.00698
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_005591.4(MRE11):c.2071-53G>T rs13447742 0.00597
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_032043.3(BRIP1):c.1141-94G>T rs114901675 0.00573
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_000038.6(APC):c.*248A>G rs186777258 0.00487
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_002691.4(POLD1):c.*54C>A rs117012238 0.00414
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_002878.4(RAD51D):c.873C>T (p.Arg291=) rs140848654 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_000520.6(HEXA):c.253+5074C>T rs149661366 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_004168.4(SDHA):c.1664-24del rs534296796 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000077.5(CDKN2A):c.150+216A>G rs147602781 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001875.5(CPS1):c.4102-561T>C rs550848657 0.00220
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802 0.00200
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_002878.4(RAD51D):c.-99T>C rs533209845 0.00193
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000018.4(ACADVL):c.1752-36G>A rs200709964 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000018.4(ACADVL):c.752+24C>T rs201030339 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000251.1(MSH2):c.-179C>T rs17224094 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_000179.3(MSH6):c.3801+21T>C rs34315174 0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys) rs61752346 0.00147
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001048174.2(MUTYH):c.-60C>T rs185172591 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001048174.2(MUTYH):c.914-27G>A rs188830619 0.00113
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_000159.4(GCDH):c.636-38G>A rs138216703 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp) rs8052503 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000249.4(MLH1):c.589-25G>A rs188146618 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp) rs147959853 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331 0.00096
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_015166.4(MLC1):c.177+15A>G rs148099137 0.00092
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_002691.4(POLD1):c.971-19G>A rs56022846 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799 0.00083
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_000455.5(STK11):c.920+32G>A rs374147918 0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_002878.4(RAD51D):c.263+1570T>A rs376472075 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_007294.4(BRCA1):c.5278-22C>T rs185646848 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000077.5(CDKN2A):c.150+1104C>A rs756102261 0.00069
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000159.4(GCDH):c.*101G>A rs140251161 0.00067
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000030.3(AGXT):c.*39G>A rs369979466 0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_002691.4(POLD1):c.3218+17G>A rs375490101 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) rs914207699 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_001164277.2(SLC37A4):c.985+228C>G rs201997939 0.00050
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_000426.4(LAMA2):c.6269-831C>G rs371162111 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004168.4(SDHA):c.456+6G>T rs371735891 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000179.3(MSH6):c.491A>C (p.His164Pro) rs146469162 0.00045
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_054012.4(ASS1):c.175-16G>T rs373936572 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) rs151148041 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000492.3(CFTR):c.-448A>G rs943663200 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_025136.4(OPA3):c.-7C>G rs199590627 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_003000.3(SDHB):c.287-26A>G rs201397253 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660 0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000159.4(GCDH):c.636-18C>T rs183109666 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000520.6(HEXA):c.1074-100T>C rs868411141 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_002878.4(RAD51D):c.904-11T>A rs374449943 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000038.6(APC):c.730-22G>C rs115634618 0.00037
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_004168.4(SDHA):c.622-8T>C rs370714378 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000051.4(ATM):c.8010+185_8010+186del rs984385407 0.00035
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_058195.4(CDKN2A):c.-28C>G rs149253558 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000128.4(F11):c.1084G>A (p.Gly362Arg) rs142096488 0.00032
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000277.3(PAH):c.969+7C>T rs80324017 0.00032
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_003001.5(SDHC):c.20+22G>C rs182261879 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000018.4(ACADVL):c.343-41C>A rs368107662 0.00031
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000051.4(ATM):c.4612-32_4612-30del rs113149503 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000151.4(G6PC1):c.340+20C>T rs183285298 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_002691.4(POLD1):c.3121-14G>A rs367766963 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_007294.4(BRCA1):c.5193+22C>T rs8176260 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_001048174.2(MUTYH):c.116-54C>T rs367908623 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000077.5(CDKN2A):c.-14C>T rs764244718 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_002691.4(POLD1):c.3219-19C>A rs374168125 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000441.2(SLC26A4):c.1001+30A>G rs556184448 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000055.4(BCHE):c.155C>T (p.Thr52Met) rs56309853 0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_014249.4(NR2E3):c.571+51C>T rs200759758 0.00024
NM_014625.4(NPHS2):c.85G>A (p.Ala29Thr) rs561887984 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000455.5(STK11):c.290+22C>T rs371255627 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_002691.4(POLD1):c.1137+16C>T rs56082047 0.00023
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_001113525.2(ZNF276):c.*1862C>T rs776077648 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489 0.00021
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528 0.00021
NM_000077.5(CDKN2A):c.458-492G>C rs527814073 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=) rs140588714 0.00021
NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly) rs567617489 0.00021
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NR_003051.3(RMRP):n.270T>C rs551655682 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu) rs769316835 0.00019
NM_000055.4(BCHE):c.570T>C (p.Ala190=) rs115463466 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000251.3(MSH2):c.1276+47T>A rs148018406 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr) rs141432759 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001164277.2(SLC37A4):c.1124+36C>G rs547915912 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_002691.4(POLD1):c.2155-8C>T rs759802920 0.00019
NM_002878.4(RAD51D):c.264-14del rs757481281 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_020975.6(RET):c.73+9278G>A rs537638504 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001048174.2(MUTYH):c.420+16G>A rs576152721 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn) rs144892841 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000059.4(BRCA2):c.67+17T>C rs767648965 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_002691.4(POLD1):c.2006+16C>T rs372942171 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) rs141157671 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839 0.00017
NM_000018.4(ACADVL):c.1678+39C>G rs377062362 0.00016
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793 0.00016
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000232.5(SGCB):c.*18C>G rs191486389 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000251.3(MSH2):c.1276+16G>A rs368120695 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000520.6(HEXA):c.1073+51G>A rs545676277 0.00016
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001113525.2(ZNF276):c.*1674G>C rs56216970 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_003000.3(SDHB):c.642+17T>C rs200597595 0.00016
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_014249.4(NR2E3):c.571+65C>T rs538878781 0.00016
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771 0.00015
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2607+4C>T rs200634990 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000018.4(ACADVL):c.1605+22A>G rs1052646012 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1244-15A>G rs201407990 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000271.5(NPC1):c.3477+14C>T rs56043719 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002691.4(POLD1):c.758+8C>G rs377133822 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499 0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_007294.4(BRCA1):c.5194-18G>T rs80358090 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_000016.6(ACADM):c.-17C>G rs367734665 0.00013
NM_000018.4(ACADVL):c.342+25C>T rs771711857 0.00013
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000249.4(MLH1):c.117-48A>G rs377111182 0.00013
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00013
NM_000337.5(SGCD):c.-378G>T rs531296131 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000520.6(HEXA):c.253+5107G>A rs748336538 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile) rs765233946 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002691.4(POLD1):c.2251-8G>A rs56051075 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00012
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_001048174.2(MUTYH):c.1393-17C>G rs199664013 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_002691.4(POLD1):c.1495-14G>A rs542376819 0.00012
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met) rs766509761 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) rs199564404 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) rs367622610 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.132G>A (p.Pro44=) rs144551668 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001369.3(DNAH5):c.4053+13C>T rs543363871 0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001378454.1(ALMS1):c.-16A>G rs746944958 0.00011
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) rs200735968 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_003640.5(ELP1):c.3573-7C>G rs370571926 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004360.5(CDH1):c.*8G>A rs201223411 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.5278-20C>T rs193149108 0.00011
NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg) rs563014885 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_020975.6(RET):c.1437C>T (p.Ala479=) rs576806356 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000018.4(ACADVL):c.1751+46C>G rs375203448 0.00010
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000203.5(IDUA):c.1727+4C>T rs1202966289 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000251.3(MSH2):c.1662-23A>G rs56404027 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.1804-23T>C rs370827220 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000492.3(CFTR):c.-165G>A rs145483167 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001164277.2(SLC37A4):c.1124+25T>C rs782603352 0.00010
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018 0.00010
NM_001378454.1(ALMS1):c.12298+14G>A rs755931726 0.00010
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr) rs773754661 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00010
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_003640.5(ELP1):c.3931+1G>T rs143674809 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00010
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_014625.4(NPHS2):c.671G>A (p.Arg224His) rs138545216 0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_020975.6(RET):c.1879+17C>T rs369920430 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer) rs778770773 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.277+24T>C rs199945418 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp) rs115017300 0.00009
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val) rs55881945 0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000152.5(GAA):c.1754+21C>T rs373387713 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1276+11A>G rs189015988 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.993+13G>C rs369599972 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001142800.2(EYS):c.1766+2598del rs765911767 0.00009
NM_001164277.2(SLC37A4):c.*7T>G rs369243698 0.00009
NM_001164277.2(SLC37A4):c.-504G>A rs1045560610 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser) rs761942658 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) rs371056571 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_005591.4(MRE11):c.2070+14A>C rs369127675 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251 0.00009
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 0.00009
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2136+15G>A rs751183869 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) rs199727887 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.7471A>G (p.Met2491Val) rs375674083 0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000179.3(MSH6):c.457+19_457+20del rs1491215647 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.2458+16G>A rs373624698 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) rs79036642 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_002878.4(RAD51D):c.263+1627C>T rs188981311 0.00008
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys) rs570762078 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000038.6(APC):c.934-14C>T rs778707022 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro) rs572782576 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) rs200945035 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_001048174.2(MUTYH):c.21C>T (p.Ala7=) rs201982344 0.00007
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter) rs143088549 0.00007
NM_001164277.2(SLC37A4):c.626+25C>T rs533221443 0.00007
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004168.4(SDHA):c.770+12A>G rs201245536 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689 0.00007
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer) rs781176348 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu) rs200376609 0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.2461G>A (p.Val821Ile) rs138498551 0.00006
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg) rs769558291 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315 0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) rs199660374 0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.735A>C (p.Arg245Ser) rs375790538 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) rs189768576 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) rs141044036 0.00006
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000136.3(FANCC):c.1329+238C>T rs768988593 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000155.4(GALT):c.821-46G>T rs111033776 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.636-24C>G rs762538155 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe) rs63749919 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr) rs150990541 0.00006
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp) rs773763465 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000187.4(HGD):c.158G>A (p.Arg53Gln) rs200808744 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.117-39G>A rs1057517605 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.1(MSH2):c.-182C>T rs876658327 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00006
NM_000277.3(PAH):c.352+11G>C rs371926082 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe) rs569286697 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143 0.00006
NM_000455.5(STK11):c.1109-21C>T rs371145906 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.920+28C>T rs371039379 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser) rs752871324 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.803+23A>T rs370719706 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1497G>A (p.Val499=) rs749498245 0.00006
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00006
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00006
NM_000546.6(TP53):c.97-28T>A rs200989844 0.00006
NM_000546.6(TP53):c.993+234G>A rs17883348 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.847-7T>A rs750785301 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001127511.3(APC):c.125G>A (p.Gly42Asp) rs1057517570 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001164277.2(SLC37A4):c.1125-7_1125-6del rs782342989 0.00006
NM_001164277.2(SLC37A4):c.149-16G>A rs373027415 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) rs773180520 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg) rs746234949 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_002878.4(RAD51D):c.263+7G>A rs56218020 0.00006
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val) rs376855484 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004168.4(SDHA):c.-5C>T rs572126995 0.00006
NM_004168.4(SDHA):c.1064+5G>A rs200021115 0.00006
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004360.5(CDH1):c.49-3C>T rs587782366 0.00006
NM_004628.5(XPC):c.*156G>A rs121965092 0.00006
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly) rs183167499 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895 0.00006
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) rs371631805 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) rs397507213 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014215.3(INSRR):c.3397+8G>T rs145596747 0.00006
NM_014249.4(NR2E3):c.45A>G (p.Ala15=) rs752130237 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_020975.6(RET):c.1150C>G (p.Pro384Ala) rs536298339 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062 0.00006
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His) rs373011028 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.6325+7390C>T rs207461108 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.532-17A>T rs997606437 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000038.6(APC):c.7472T>C (p.Met2491Thr) rs369075403 0.00005
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=) rs540561728 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000153.4(GALC):c.195+15G>A rs748140458 0.00005
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131 0.00005
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000203.5(IDUA):c.1728-9C>T rs374775605 0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609 0.00005
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-18G>T rs587781177 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000478.6(ALPL):c.649-11G>C rs376565308 0.00005
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3874-4A>G rs201381687 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001164277.2(SLC37A4):c.985+290T>C rs781943252 0.00005
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_001384140.1(PCDH15):c.4671+1523G>T rs755005336 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002691.4(POLD1):c.2717+14C>T rs367945387 0.00005
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_003640.5(ELP1):c.3223-16C>G rs372907186 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115 0.00005
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met) rs61747631 0.00005
NM_004628.5(XPC):c.2138G>A (p.Arg713His) rs778769039 0.00005
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005562.3(LAMC2):c.503+14G>A rs372097432 0.00005
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=) rs146015192 0.00005
NM_015346.4(ZFYVE26):c.2716C>T (p.Arg906Cys) rs267604033 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_020975.6(RET):c.1441C>G (p.Leu481Val) rs767210575 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.337+29G>A rs578158807 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_054012.4(ASS1):c.1004G>A (p.Arg335His) rs555388438 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr) rs770492164 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NR_003051.3(RMRP):n.-19_-13dup rs1554651506 0.00005
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1679-34C>T rs779439503 0.00004
NM_000018.4(ACADVL):c.278-39C>T rs202244937 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile) rs768236474 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.2534G>A (p.Arg845His) rs776878597 0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.263G>A (p.Arg88Gln) rs587780592 0.00004
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.3552C>T (p.Ala1184=) rs759407858 0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202 0.00004
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882 0.00004
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.531+16G>A rs770126046 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala) rs746346292 0.00004
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys) rs752604668 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.6694C>G (p.His2232Asp) rs730881256 0.00004
NM_000038.6(APC):c.669A>C (p.Gln223His) rs769482880 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu) rs143060722 0.00004
NM_000038.6(APC):c.7594C>T (p.His2532Tyr) rs375080917 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841 0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) rs80358425 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile) rs775903570 0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle) rs397507697 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys) rs587782754 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val) rs587782751 0.00004
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) rs80358842 0.00004
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile) rs397507365 0.00004
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) rs80358865 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=) rs80359795 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00004
NM_000098.3(CPT2):c.62C>A (p.Pro21His) rs1399429530 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile) rs199789515 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His) rs201688862 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.1073-4G>A rs147695697 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr) rs587779207 0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr) rs200938360 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.242C>T (p.Ala81Val) rs587779924 0.00004
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr) rs190075874 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00004
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys) rs143036974 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn) rs876658610 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000232.5(SGCB):c.429+24G>T rs367761233 0.00004
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) rs267607218 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg) rs730881742 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.381-43C>G rs368847278 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000251.1(MSH2):c.-225G>C rs138068023 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) rs1329159364 0.00004
NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.2066G>A (p.Arg689His) rs764380548 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000380.4(XPA):c.571C>G (p.Leu191Val) rs562768588 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000414.4(HSD17B4):c.113-2206T>C rs541081959 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000455.5(STK11):c.1109-5C>T rs587782020 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00004
NM_000455.5(STK11):c.631C>T (p.Arg211Trp) rs185087320 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.734+11C>T rs773604294 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.862+23C>T rs200302435 0.00004
NM_000455.5(STK11):c.920+29G>A rs191273506 0.00004
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr) rs587782040 0.00004
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr) rs199780731 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000481.4(AMT):c.*86G>T rs745685639 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.376-18dup rs756417643 0.00004
NM_000546.6(TP53):c.554G>A (p.Ser185Asn) rs150607408 0.00004
NM_000546.6(TP53):c.642T>G (p.His214Gln) rs587781386 0.00004
NM_000546.6(TP53):c.672+15T>C rs140756213 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000546.6(TP53):c.993+227A>C rs764562217 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_001048174.2(MUTYH):c.1062C>T (p.Ala354=) rs778193554 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001164277.2(SLC37A4):c.1125-41C>T rs782175115 0.00004
NM_001164277.2(SLC37A4):c.382-17C>T rs1369693461 0.00004
NM_001164277.2(SLC37A4):c.626+13C>T rs746096087 0.00004
NM_001164277.2(SLC37A4):c.985+248G>A rs369907198 0.00004
NM_001164277.2(SLC37A4):c.986-11G>A rs1487063543 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2851+52T>C rs370125588 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.11669-7C>A rs548573570 0.00004
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.450+11T>C rs763724672 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) rs762942184 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.1383+9G>C rs767098823 0.00004
NM_002691.4(POLD1):c.2007-14G>A rs374710307 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_002878.4(RAD51D):c.145-13G>T rs760867838 0.00004
NM_002878.4(RAD51D):c.145-14G>C rs200470533 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888 0.00004
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003823.4(TNFRSF6B):c.*83G>A rs767909940 0.00004
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg) rs917853575 0.00004
NM_004004.5(GJB2):c.-259C>T rs1417111166 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004168.4(SDHA):c.1432+7G>C rs760526397 0.00004
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) rs750327309 0.00004
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) rs3211483 0.00004
NM_004168.4(SDHA):c.456+9C>T rs200565489 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102 0.00004
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004360.4(CDH1):c.-288del rs5030658 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.1501G>A (p.Val501Met) rs368690400 0.00004
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149 0.00004
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr) rs201637081 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln) rs530717933 0.00004
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln) rs587781311 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_004628.5(XPC):c.736C>T (p.Pro246Ser) rs587778761 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005562.3(LAMC2):c.-15C>T rs762430522 0.00004
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp) rs563159537 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.3379-18C>T rs1057517632 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.135-23C>T rs763633355 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro) rs80357483 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4358-2720G>A rs183331660 0.00004
NM_007294.4(BRCA1):c.4358-2726A>G rs775348455 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_014249.4(NR2E3):c.677G>A (p.Arg226His) rs544290323 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr) rs201122403 0.00004
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter) rs200178876 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_020975.6(RET):c.1724C>T (p.Thr575Ile) rs587780808 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) rs34617196 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.509C>T (p.Thr170Ile) rs200547906 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.1972-1G>A rs372927796 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp) rs532174593 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) rs1267288663 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1332+27C>T rs200161683 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1434+23G>A rs759991740 0.00003
NM_000018.4(ACADVL):c.1532+11G>A rs372900326 0.00003
NM_000018.4(ACADVL):c.1678+24G>A rs751665756 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1751+30C>T rs757837505 0.00003
NM_000018.4(ACADVL):c.1752-23T>C rs368009800 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG rs781605283 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.1312+16T>A rs376965806 0.00003
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.2090C>T (p.Ala697Val) rs761733547 0.00003
NM_000038.6(APC):c.221-16T>C rs1046591128 0.00003
NM_000038.6(APC):c.2855C>A (p.Ala952Asp) rs776560257 0.00003
NM_000038.6(APC):c.2870A>G (p.Lys957Arg) rs777881096 0.00003
NM_000038.6(APC):c.296G>A (p.Arg99Gln) rs199842850 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500 0.00003
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile) rs760686348 0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu) rs370532497 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=) rs786201348 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr) rs730881257 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly) rs371616945 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_000038.6(APC):c.933+16A>G rs1057517599 0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.209T>C (p.Val70Ala) rs1027739421 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val) rs368666328 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00003
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448 0.00003
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646 0.00003
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser) rs80358520 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) rs80358568 0.00003
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg) rs80358570 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.426-22G>T rs368499005 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys) rs80358741 0.00003
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) rs587782714 0.00003
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp) rs431825328 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867 0.00003
NM_000059.4(BRCA2):c.632-13T>G rs775947267 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 0.00003
NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=) rs373696964 0.00003
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala) rs80358909 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.7436-14T>G rs81002814 0.00003
NM_000059.4(BRCA2):c.747T>A (p.Ser249=) rs767165913 0.00003
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=) rs748631472 0.00003
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg) rs55647716 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=) rs80359805 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220 0.00003
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000077.5(CDKN2A):c.150+40C>T rs1057517604 0.00003
NM_000077.5(CDKN2A):c.458-541A>G rs938889880 0.00003
NM_000082.4(ERCC8):c.399+1G>A rs774047625 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676 0.00003
NM_000092.5(COL4A4):c.4091-336C>T rs925971110 0.00003
NM_000092.5(COL4A4):c.4091-356_4091-355dup rs1553620826 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046 0.00003
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 0.00003
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln) rs138616379 0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) rs547099198 0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) rs1801267 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1135+5G>A rs758515608 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000137.4(FAH):c.1195G>C (p.Asp399His) rs1449927772 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.157C>T (p.Arg53Trp) rs752371343 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.1059+24G>A rs111033840 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000159.4(GCDH):c.636-26C>T rs772762469 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000179.3(MSH6):c.-6G>C rs730881822 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser) rs868760377 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln) rs372705506 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) rs63750253 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu) rs267608100 0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290 0.00003
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr) rs148445930 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000179.3(MSH6):c.4002-14T>C rs587781041 0.00003
NM_000179.3(MSH6):c.628-12C>T rs752105994 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00003
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111 0.00003
NM_000228.3(LAMB3):c.2137+37G>A rs374527059 0.00003
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter) rs747809412 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.884+15A>G rs372817491 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys) rs63751412 0.00003
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu) rs557339938 0.00003
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala) rs730881756 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1760-16T>G rs768370188 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.2006-26dup rs781614743 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.943-25T>C rs775155213 0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys) rs63750732 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000277.3(PAH):c.-66_-65del rs997821067 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844 0.00003
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105 0.00003
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) rs1445192595 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000310.4(PPT1):c.2T>C (p.Met1Thr) rs796052927 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.1609C>T (p.Arg537Trp) rs943299597 0.00003
NM_000359.3(TGM1):c.2440C>T (p.Arg814Ter) rs755589419 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000380.3(XPA):c.-66T>G rs886063218 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000396.4(CTSK):c.120+1G>A rs1057517279 0.00003
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226 0.00003
NM_000404.4(GLB1):c.734-8A>G rs398123357 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.6269-829A>G rs758519410 0.00003
NM_000426.4(LAMA2):c.640-1G>A rs1296761337 0.00003
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) rs372212378 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.1100C>T (p.Thr367Met) rs587782835 0.00003
NM_000455.5(STK11):c.1130C>T (p.Ala377Val) rs199973552 0.00003
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser) rs762482152 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1585-19T>C rs778457306 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1680-26T>C rs397508265 0.00003
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro) rs374702882 0.00003
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) rs397508335 0.00003
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) rs397508381 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) rs397508754 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00003
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.30C>T (p.Val10=) rs568171603 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_000546.6(TP53):c.993+284C>T rs554738122 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln) rs377517768 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_001042432.2(CLN3):c.295-2A>C rs1478660606 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001048174.2(MUTYH):c.914-21T>C rs780013757 0.00003
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu) rs587778538 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00003
NM_001127511.3(APC):c.130G>A (p.Ala44Thr) rs367773779 0.00003
NM_001127511.3(APC):c.71C>T (p.Ser24Phe) rs770241997 0.00003
NM_001127511.3(APC):c.83G>A (p.Gly28Asp) rs1057517606 0.00003
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001164277.2(SLC37A4):c.-535G>C rs138523194 0.00003
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=) rs1310970870 0.00003
NM_001164277.2(SLC37A4):c.381+15A>G rs1057520372 0.00003
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=) rs1470803048 0.00003
NM_001164277.2(SLC37A4):c.986-18C>T rs374784735 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 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.22800+1G>A rs1302373559 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn) rs267598926 0.00003
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter) rs778734749 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001365088.1(SLC12A6):c.316+2dup rs778694021 0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg) rs187607395 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862 0.00003
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser) rs371269253 0.00003
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala) rs1193275022 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 0.00003
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp) rs764135516 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs) rs760669176 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg) rs779199089 0.00003
NM_002691.4(POLD1):c.1137+10G>A rs367666867 0.00003
NM_002691.4(POLD1):c.1892+11C>T rs376751542 0.00003
NM_002691.4(POLD1):c.2564+19C>T rs1057522890 0.00003
NM_002691.4(POLD1):c.3121-9C>T rs149742605 0.00003
NM_002691.4(POLD1):c.758G>A (p.Arg253Gln) rs1366413924 0.00003
NM_002691.4(POLD1):c.970+12G>C rs778084767 0.00003
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg) rs546225564 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865 0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003823.4(TNFRSF6B):c.*75G>A rs1375849919 0.00003
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter) rs747918186 0.00003
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His) rs767090761 0.00003
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys) rs768195916 0.00003
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His) rs575430880 0.00003
NM_004004.6(GJB2):c.-7G>A rs398123813 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser) rs574229174 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=) rs148080550 0.00003
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile) rs587780112 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val) rs587782464 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_004360.5(CDH1):c.832+17G>C rs373179391 0.00003
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu) rs375859472 0.00003
NM_004628.5(XPC):c.597A>C (p.Lys199Asn) rs587778759 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys) rs587778760 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.397+2T>C rs1054950770 0.00003
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys) rs950655735 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) rs1212623980 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_005562.3(LAMC2):c.1468+1G>T rs1043996591 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.1641C>A (p.Leu547=) rs267603387 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_007294.4(BRCA1):c.212+21G>A rs80358147 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg) rs777512062 0.00003
NM_014249.4(NR2E3):c.450G>A (p.Pro150=) rs746581775 0.00003
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) rs759765652 0.00003
NM_014249.4(NR2E3):c.899C>T (p.Thr300Met) rs374016332 0.00003
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) rs554638593 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.795-12T>G rs376637418 0.00003
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln) rs751767084 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_017739.4(POMGNT1):c.*531C>T rs769094628 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.31+1G>A rs1057516246 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020975.6(RET):c.1018G>T (p.Val340Phe) rs367737920 0.00003
NM_020975.6(RET):c.1083C>A (p.Asn361Lys) rs770587835 0.00003
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1878G>A (p.Gln626=) rs147692872 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2285-4T>G rs376601566 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_020975.6(RET):c.2392+19T>C rs778745375 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.308A>G (p.His103Arg) rs375390467 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) rs773340677 0.00003
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) rs730881886 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) rs761032954 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) rs587782217 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val) rs863224798 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.190G>A (p.Val64Ile) rs556297791 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_133259.4(LRPPRC):c.1369+5G>A rs199628926 0.00003
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr) rs370537508 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00003
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.1206+23T>A rs745316537 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_174878.3(CLRN1):c.254-2132C>T rs758741442 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) rs199473712 0.00003
NM_198129.4(LAMA3):c.8044-1G>T rs141789403 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.263C>G rs533294975 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp) rs369416846 0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) rs199717731 0.00002
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1678+22C>T rs761650394 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.1752-32_1752-31del rs758750087 0.00002
NM_000018.4(ACADVL):c.342+14C>T rs567468883 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000035.4(ALDOB):c.800-2A>C rs199965465 0.00002
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) rs150209825 0.00002
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578 0.00002
NM_000038.6(APC):c.280C>A (p.Arg94Ser) rs550945533 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser) rs141298709 0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu) rs529543591 0.00002
NM_000038.6(APC):c.5708A>G (p.Asn1903Ser) rs750404000 0.00002
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222 0.00002
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu) rs756266694 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp) rs1060503281 0.00002
NM_000038.6(APC):c.835-20A>G rs777546674 0.00002
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser) rs758044862 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000048.4(ASL):c.524+2T>G rs869312976 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.918+5G>A rs781331391 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.6198+5A>G rs771047560 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe) rs747598704 0.00002
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) rs140080572 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=) rs80359782 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) rs397507603 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468 0.00002
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu) rs80358469 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala) rs144192844 0.00002
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala) rs80358500 0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511 0.00002
NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly) rs398122754 0.00002
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys) rs759181823 0.00002
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) rs80358559 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365 0.00002
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg) rs587782201 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu) rs80358653 0.00002
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776 0.00002
NM_000059.4(BRCA2):c.4677T>C (p.Phe1559=) rs786201540 0.00002
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val) rs200582465 0.00002
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu) rs80358708 0.00002
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly) rs80358732 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5214T>G (p.Thr1738=) rs864622338 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352 0.00002
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799 0.00002
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812 0.00002
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620 0.00002
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg) rs28897737 0.00002
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly) rs80358839 0.00002
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg) rs80358852 0.00002
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu) rs773211804 0.00002
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887 0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00002
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala) rs80358894 0.00002
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304 0.00002
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982 0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995 0.00002
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala) rs879255308 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038 0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly) rs80359219 0.00002
NM_000059.4(BRCA2):c.9501+4A>G rs81002848 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2263+14A>G rs886038225 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000092.5(COL4A4):c.4091-330T>C rs774439386 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925 0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val) rs72549305 0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000112.4(SLC26A2):c.2218T>A (p.Ter740Lys) rs747357127 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.422+1G>A rs1198472093 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 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.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 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.457-7T>C rs749994612 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_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.707-1G>A rs149052294 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.507+10G>A rs753052473 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg) rs771126053 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000179.3(MSH6):c.1082G>A (p.Arg361His) rs63750440 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr) rs768854566 0.00002
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu) rs63750832 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=) rs758170249 0.00002
NM_000179.3(MSH6):c.2511C>G (p.His837Gln) rs587779925 0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr) rs774774596 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg) rs764113705 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu) rs730881804 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met) rs587781482 0.00002
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) rs786204182 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp) rs587779938 0.00002
NM_000179.3(MSH6):c.4000_4001+17dup rs1064794929 0.00002
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) rs786204130 0.00002
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=) rs863224335 0.00002
NM_000179.3(MSH6):c.751A>G (p.Ile251Val) rs554884560 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg) rs143370662 0.00002
NM_000187.4(HGD):c.342+1G>T rs397515518 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190 0.00002
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509 0.00002
NM_000231.3(SGCG):c.196-6195C>T rs207473592 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.538+6T>C rs772236690 0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp) rs63751703 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1854A>G (p.Pro618=) rs786203744 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000251.3(MSH2):c.366+24A>G rs200890440 0.00002
NM_000251.3(MSH2):c.42G>A (p.Ala14=) rs374396150 0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=) rs587779161 0.00002
NM_000251.3(MSH2):c.762T>C (p.Asn254=) rs587779180 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 0.00002
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5857-3C>A rs727505114 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000337.6(SGCD):c.-44+1G>A rs959438136 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000353.3(TAT):c.-12-1G>A rs777389158 0.00002
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) rs759311161 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000380.4(XPA):c.646C>T (p.Gln216Ter) rs761978351 0.00002
NM_000380.4(XPA):c.774dup (p.Lys259Ter) rs752573039 0.00002
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000455.5(STK11):c.1109-13G>A rs568152768 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met) rs374078532 0.00002
NM_000455.5(STK11):c.310A>G (p.Arg104Gly) rs587782783 0.00002
NM_000455.5(STK11):c.439C>T (p.Arg147Cys) rs748464757 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) rs587781596 0.00002
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) rs370771157 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000492.3(CFTR):c.-837T>C rs1415964307 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) rs755394212 0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=) rs375099397 0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile) rs779701238 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.441T>C (p.Ala147=) rs786201352 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001127511.3(APC):c.48T>C (p.Ser16=) rs980704771 0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208 0.00002
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs) rs779969348 0.00002
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) rs199543257 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001164277.2(SLC37A4):c.-530G>A rs1417861590 0.00002
NM_001164277.2(SLC37A4):c.1124+18G>C rs1555190434 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.149-7C>T rs1316874319 0.00002
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile) rs953252068 0.00002
NM_001164277.2(SLC37A4):c.382-10T>C rs914753772 0.00002
NM_001164277.2(SLC37A4):c.382-4A>C rs923058912 0.00002
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=) rs745721191 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001164277.2(SLC37A4):c.785+12A>G rs976964945 0.00002
NM_001164277.2(SLC37A4):c.985+240_985+241insTA rs782397393 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) rs773858764 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=) rs771511314 0.00002
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 0.00002
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10384+3A>G rs752727300 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 0.00002
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val) rs377523400 0.00002
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg) rs201959964 0.00002
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp) rs368113488 0.00002
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln) rs200814417 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys) rs369228801 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249 0.00002
NM_001378454.1(ALMS1):c.450+7C>A rs775200355 0.00002
NM_001378454.1(ALMS1):c.451-20T>C rs762592063 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu) rs994637726 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369 0.00002
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069 0.00002
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4368-3204C>T rs375657329 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs) rs753776604 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002435.3(MPI):c.345+26G>A rs144839533 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1124+37C>G rs577575764 0.00002
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu) rs767123014 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.2184+8G>C rs730881842 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002691.4(POLD1):c.1776-18C>T rs775669198 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2250+16C>T rs768471202 0.00002
NM_002691.4(POLD1):c.2433C>T (p.Gly811=) rs1051057675 0.00002
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg) rs774568050 0.00002
NM_002878.4(RAD51D):c.263+1612del rs750282687 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn) rs200021702 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_003001.5(SDHC):c.*20T>G rs587778662 0.00002
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp) rs756317669 0.00002
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=) rs555469304 0.00002
NM_004004.6(GJB2):c.-22-1G>A rs551625098 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004168.4(SDHA):c.109G>A (p.Val37Ile) rs758426529 0.00002
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) rs781747137 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) rs751008647 0.00002
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434 0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) rs373364873 0.00002
NM_004360.5(CDH1):c.1300G>C (p.Gly434Arg) rs587781783 0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=) rs751346548 0.00002
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu) rs730881667 0.00002
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) rs746481984 0.00002
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala) rs587782061 0.00002
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr) rs763292288 0.00002
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn) rs587781696 0.00002
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile) rs587781351 0.00002
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile) rs766270336 0.00002
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe) rs786202598 0.00002
NM_004360.5(CDH1):c.2399G>A (p.Arg800His) rs370345996 0.00002
NM_004360.5(CDH1):c.2439+14G>A rs752439219 0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647 0.00002
NM_004360.5(CDH1):c.344C>T (p.Thr115Met) rs370973869 0.00002
NM_004360.5(CDH1):c.371G>A (p.Arg124His) rs115418995 0.00002
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00002
NM_004360.5(CDH1):c.510A>G (p.Pro170=) rs774962542 0.00002
NM_004360.5(CDH1):c.688-14C>T rs189969617 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.2722C>T (p.Arg908Ter) rs199527751 0.00002
NM_004628.5(XPC):c.478G>T (p.Val160Leu) rs587778763 0.00002
NM_004628.5(XPC):c.718C>T (p.Arg240Cys) rs552222088 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005562.3(LAMC2):c.80-2A>G rs771613805 0.00002
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys) rs773275841 0.00002
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) rs587782166 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.-20+57G>A rs556032779 0.00002
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00002
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn) rs80357181 0.00002
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys) rs80357029 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.4675+11A>G rs750095985 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5074+23A>G rs778115859 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=) rs759867616 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) rs80357451 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys) rs564706097 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685 0.00002
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.695C>T (p.Thr232Ile) rs774199987 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) rs558285072 0.00002
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_017739.4(POMGNT1):c.*500G>A rs764840485 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_018941.4(CLN8):c.543+1G>T rs756267448 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1095G>A (p.Ser365=) rs201992974 0.00002
NM_020975.6(RET):c.1188G>A (p.Ser396=) rs758510657 0.00002
NM_020975.6(RET):c.1264-4C>T rs587780806 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.2226G>A (p.Thr742=) rs762876946 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) rs377767422 0.00002
NM_020975.6(RET):c.2833G>A (p.Val945Met) rs587780811 0.00002
NM_020975.6(RET):c.2875C>T (p.Arg959Trp) rs587778658 0.00002
NM_020975.6(RET):c.2939+6C>T rs181245759 0.00002
NM_020975.6(RET):c.335G>A (p.Arg112His) rs587780814 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) rs201035780 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) rs199682414 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 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.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) rs45464991 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) rs761584357 0.00002
NM_032520.5(GNPTG):c.53-2A>G rs779597308 0.00002
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg) rs762814533 0.00002
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894 0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu) rs748327367 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_152564.5(VPS13B):c.8445+50del rs761647040 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.388-8T>A rs777486804 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_174878.3(CLRN1):c.254-2115del rs1032160668 0.00002
NM_198129.4(LAMA3):c.1064-2A>G rs756617534 0.00002
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter) rs540179310 0.00002
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del) rs766970587 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) rs1284826852 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NR_003051.3(RMRP):n.-22_-6dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) rs748110745 0.00001
NM_000016.6(ACADM):c.1194+1G>A rs769331400 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+2T>C rs148260275 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.709-1G>A rs941714381 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.850-2A>G rs761317029 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
NM_000017.4(ACADS):c.1030-1G>A rs1226857910 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1148G>A (p.Arg383His) rs35233375 0.00001
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) rs765758808 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys) rs755247580 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala) rs762083095 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.138+2T>C rs1057516817 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1434+38G>C rs763704056 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1752-33C>T rs760851448 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.204+15G>A rs1404625751 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.278-8C>T rs1178133251 0.00001
NM_000018.4(ACADVL):c.342+16G>C rs536497611 0.00001
NM_000018.4(ACADVL):c.343-23G>A rs781064781 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.63-18A>G rs1481782237 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845+1G>C rs766590645 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000023.4(SGCA):c.*12+2T>C rs1297436069 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) rs1057516664 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.525-1G>A rs180177234 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536 0.00001
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.1291A>G (p.Met431Val) rs730881235 0.00001
NM_000038.6(APC):c.1409-17T>G rs764042245 0.00001
NM_000038.6(APC):c.1441G>A (p.Val481Met) rs587780542 0.00001
NM_000038.6(APC):c.1744-14C>A rs761403505 0.00001
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289 0.00001
NM_000038.6(APC):c.2260G>T (p.Val754Phe) rs764099150 0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=) rs766325173 0.00001
NM_000038.6(APC):c.2308T>C (p.Ser770Pro) rs587781419 0.00001
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.2830A>G (p.Asn944Asp) rs749720558 0.00001
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn) rs374380039 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.3555A>G (p.Thr1185=) rs786201125 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr) rs587781637 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.3959T>A (p.Val1320Glu) rs760485028 0.00001
NM_000038.6(APC):c.4005C>T (p.Ser1335=) rs751729992 0.00001
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) rs1399790840 0.00001
NM_000038.6(APC):c.422+19G>C rs767046355 0.00001
NM_000038.6(APC):c.4311A>G (p.Lys1437=) rs371784771 0.00001
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597 0.00001
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser) rs756048549 0.00001
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr) rs730882128 0.00001
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) rs587778042 0.00001
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly) rs587780598 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5283C>A (p.Asn1761Lys) rs933729249 0.00001
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu) rs199630012 0.00001
NM_000038.6(APC):c.5365G>C (p.Val1789Leu) rs1554086666 0.00001
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile) rs730881253 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.5816A>T (p.Asp1939Val) rs754783550 0.00001
NM_000038.6(APC):c.5891C>T (p.Ser1964Phe) rs1060503274 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.5981A>T (p.Asp1994Val) rs774815653 0.00001
NM_000038.6(APC):c.6022G>A (p.Ala2008Thr) rs1343830702 0.00001
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr) rs770406711 0.00001
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) rs786204043 0.00001
NM_000038.6(APC):c.6440C>T (p.Pro2147Leu) rs779469633 0.00001
NM_000038.6(APC):c.6446A>C (p.His2149Pro) rs749230730 0.00001
NM_000038.6(APC):c.646-20G>A rs1057517635 0.00001
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026 0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549 0.00001
NM_000038.6(APC):c.7079G>T (p.Gly2360Val) rs750960862 0.00001
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) rs587782127 0.00001
NM_000038.6(APC):c.7396T>C (p.Ser2466Pro) rs786203234 0.00001
NM_000038.6(APC):c.7533C>T (p.Leu2511=) rs1057522957 0.00001
NM_000038.6(APC):c.7558G>A (p.Gly2520Arg) rs746138566 0.00001
NM_000038.6(APC):c.7667C>T (p.Ser2556Leu) rs761133356 0.00001
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000038.6(APC):c.8146G>A (p.Val2716Met) rs587778044 0.00001
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys) rs587782312 0.00001
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr) rs863224552 0.00001
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys) rs755366812 0.00001
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) rs587780608 0.00001
NM_000038.6(APC):c.918T>G (p.Ser306Arg) rs730881231 0.00001
NM_000038.6(APC):c.934-21C>A rs754906600 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr) rs757959356 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000045.4(ARG1):c.560+5G>A rs763312659 0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948 0.00001
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg) rs866970619 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.446+2T>C rs1268519003 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2207C>T (p.Ala736Val) rs587780617 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu) rs201909756 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met) rs863224564 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg) rs587782126 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu) rs864622563 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val) rs1555138472 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8584+6C>G rs863224300 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) rs1180133690 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179 0.00001
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) rs1213481140 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063 0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp) rs770337031 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) rs745364489 0.00001
NM_000055.4(BCHE):c.1517+1G>T rs1057517218 0.00001
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) rs1057516482 0.00001
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) rs1057517144 0.00001
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys) rs116097205 0.00001
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) rs990121358 0.00001
NM_000055.4(BCHE):c.307G>C (p.Gly103Arg) rs979653503 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) rs747196387 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_000059.4(BRCA2):c.-9T>C rs276174802 0.00001
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr) rs587782100 0.00001
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile) rs80358388 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1197C>G (p.Thr399=) rs377308954 0.00001
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=) rs276174807 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly) rs786201654 0.00001
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val) rs80358420 0.00001
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys) rs587782159 0.00001
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431 0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) rs760559435 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile) rs397507271 0.00001
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile) rs781763239 0.00001
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys) rs276174810 0.00001
NM_000059.4(BRCA2):c.171C>T (p.Tyr57=) rs201523522 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val) rs398122732 0.00001
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467 0.00001
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=) rs755049218 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=) rs535547513 0.00001
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) rs276174818 0.00001
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu) rs431825294 0.00001
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln) rs587782158 0.00001
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283 0.00001
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile) rs587779360 0.00001
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly) rs768143929 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala) rs80358508 0.00001
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile) rs80358509 0.00001
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val) rs786203814 0.00001
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile) rs397507287 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly) rs55972907 0.00001
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs) rs1555282969 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) rs41293477 0.00001
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr) rs431825303 0.00001
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe) rs80358563 0.00001
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564 0.00001
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg) rs80358569 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg) rs398122761 0.00001
NM_000059.4(BRCA2):c.3401G>C (p.Ser1134Thr) rs398122764 0.00001
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly) rs80358587 0.00001
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) rs56242644 0.00001
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met) rs80358592 0.00001
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val) rs80358597 0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr) rs786203756 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=) rs141196976 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.378A>G (p.Gln126=) rs786201593 0.00001
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe) rs397507315 0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) rs80358624 0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631 0.00001
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala) rs543339423 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser) rs431825318 0.00001
NM_000059.4(BRCA2):c.4242G>T (p.Thr1414=) rs750495335 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666 0.00001
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu) rs80358668 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00001
NM_000059.4(BRCA2):c.449A>G (p.His150Arg) rs397507722 0.00001
NM_000059.4(BRCA2):c.452T>C (p.Val151Ala) rs730881503 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.4658C>T (p.Thr1553Ile) rs80358697 0.00001
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) rs276174845 0.00001
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg) rs587782822 0.00001
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=) rs750813972 0.00001
NM_000059.4(BRCA2):c.4699C>T (p.Leu1567=) rs146514381 0.00001
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050 0.00001
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys) rs368952892 0.00001
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr) rs56137239 0.00001
NM_000059.4(BRCA2):c.4858T>C (p.Leu1620=) rs528771743 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser) rs80358739 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.517-11T>C rs81002828 0.00001
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn) rs80358745 0.00001
NM_000059.4(BRCA2):c.5217T>C (p.Tyr1739=) rs80358746 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe) rs80358748 0.00001
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp) rs80358750 0.00001
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn) rs183478654 0.00001
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys) rs80358757 0.00001
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser) rs80358759 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val) rs773600818 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg) rs80358804 0.00001
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile) rs759138390 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile) rs370026879 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) rs765575482 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) rs41293501 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala) rs80358897 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.68-17del rs752172011 0.00001
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr) rs398122564 0.00001
NM_000059.4(BRCA2):c.682-13A>G rs81002888 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly) rs397507378 0.00001
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914 0.00001
NM_000059.4(BRCA2):c.6906A>G (p.Lys2302=) rs786201621 0.00001
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu) rs80358925 0.00001
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala) rs80358926 0.00001
NM_000059.4(BRCA2):c.7008-25C>T rs751803680 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val) rs80358941 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val) rs80358960 0.00001
NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr) rs80358962 0.00001
NM_000059.4(BRCA2):c.7436-9C>A rs398122584 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn) rs549269828 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe) rs398122586 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7805+9T>A rs768471151 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.78A>G (p.Pro26=) rs772146565 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser) rs80359020 0.00001
NM_000059.4(BRCA2):c.7976+24G>A rs189855685 0.00001
NM_000059.4(BRCA2):c.7977-15T>G rs431825361 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519 0.00001
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu) rs80359053 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr) rs80359060 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala) rs587781719 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln) rs587776472 0.00001
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly) rs768247528 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile) rs80359094 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) rs80359111 0.00001
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro) rs80359119 0.00001
NM_000059.4(BRCA2):c.8667A>G (p.Ala2889=) rs786203480 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 0.00001
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His) rs80359141 0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala) rs587782021 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.918T>C (p.Asp306=) rs184408918 0.00001
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn) rs80359191 0.00001
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr) rs770003991 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe) rs397507428 0.00001
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile) rs398122615 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000059.4(BRCA2):c.9593G>A (p.Cys3198Tyr) rs587782435 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe) rs80359238 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp) rs431825380 0.00001
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=) rs730881598 0.00001
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His) rs80359246 0.00001
NM_000059.4(BRCA2):c.9864A>G (p.Thr3288=) rs778401681 0.00001
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys) rs80359249 0.00001
NM_000059.4(BRCA2):c.9945A>G (p.Lys3315=) rs752308575 0.00001
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val) rs567476314 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681 0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118 0.00001
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe) rs1555421055 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) rs763036586 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.28del (p.Val10fs) rs779250698 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000075.4(CDK4):c.355-12C>T rs1004281478 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg) rs104894094 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) rs750622098 0.00001
NM_000082.4(ERCC8):c.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) rs1343747301 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) rs1396602090 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) rs920413118 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.3751+1G>A rs781566652 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025 0.00001
NM_000092.5(COL4A4):c.4081+7T>C rs779775976 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591 0.00001
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter) rs1317793581 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376 0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn) rs183385770 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val) rs760663364 0.00001
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388 0.00001
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln) rs267598786 0.00001
NM_000110.4(DPYD):c.3G>A (p.Met1Ile) rs768020954 0.00001
NM_000110.4(DPYD):c.483+1G>T rs1057516763 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) rs72549307 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000110.4(DPYD):c.680+1G>A rs867460475 0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) rs755416212 0.00001
NM_000110.4(DPYD):c.763-2A>G rs1300669537 0.00001
NM_000112.4(SLC26A2):c.1922A>G (p.His641Arg) rs1253691463 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039 0.00001
NM_000128.3(F11):c.-456G>A rs1004061199 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1627G>A (p.Glu543Lys) rs142952627 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.326-1G>A rs1057517364 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys) rs748139184 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.680G>A (p.Gly227Asp) rs1489595409 0.00001
NM_000128.4(F11):c.730C>T (p.Gln244Ter) rs747702749 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.865+1G>C rs1349655563 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 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.2303T>C (p.Leu768Pro) rs1490352414 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.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 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.2903C>T (p.Ser968Leu) rs779162871 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 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.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 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.839C>T (p.Ala280Val) rs767092317 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_000136.3(FANCC):c.-79+1G>A rs1228886763 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.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 0.00001
NM_000137.4(FAH):c.1190del (p.Gln397fs) rs786204551 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 0.00001
NM_000137.4(FAH):c.787G>A (p.Val263Met) rs1168279912 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.447-1G>A rs1411037881 0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+16C>T rs573522544 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000153.2(GALC):c.-261C>A rs1307710694 0.00001
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.*14A>G rs143444570 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.195+1G>A rs1009872980 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.3G>A (p.Met1Ile) rs758685128 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) rs575139300 0.00001
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.788G>A (p.Arg263Gln) rs777023967 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764 0.00001
NM_000159.4(GCDH):c.*201A>C rs1356787323 0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088 0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.365C>T (p.Ala122Val) rs766325846 0.00001
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter) rs752334462 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.636-1G>A rs398123195 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter) rs751025203 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=) rs748603803 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg) rs863224616 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp) rs587779917 0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=) rs63749893 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser) rs876661043 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp) rs587778532 0.00001
NM_000179.3(MSH6):c.1999G>C (p.Asp667His) rs151086192 0.00001
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp) rs587779223 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.2035T>C (p.Leu679=) rs757741943 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile) rs587782805 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met) rs63750304 0.00001
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr) rs574358605 0.00001
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys) rs730881817 0.00001
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn) rs561198849 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val) rs864622324 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu) rs762818044 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.2876G>A (p.Arg959His) rs757653982 0.00001
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr) rs587779927 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile) rs587779928 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr) rs730881800 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys) rs773357672 0.00001
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val) rs1553331250 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=) rs371568610 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.3438+17G>C rs759737239 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val) rs748398941 0.00001
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val) rs369778514 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.363C>T (p.Arg121=) rs587779276 0.00001
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser) rs730881807 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp) rs759092293 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe) rs192740549 0.00001
NM_000179.3(MSH6):c.458-13C>G rs1057522695 0.00001
NM_000179.3(MSH6):c.458-17A>G rs554847828 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys) rs863224629 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro) rs876659071 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys) rs377216828 0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=) rs778354962 0.00001
NM_000179.3(MSH6):c.910G>A (p.Val304Met) rs876661207 0.00001
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn) rs760100983 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461 0.00001
NM_000182.5(HADHA):c.1690-2A>G rs1057516217 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter) rs768855989 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NM_000187.4(HGD):c.11T>A (p.Leu4Ter) rs786204422 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073 0.00001
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754 0.00001
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.973-4G>A rs745832717 0.00001
NM_000227.6(LAMA3):c.108del (p.Leu38fs) rs1231716161 0.00001
NM_000227.6(LAMA3):c.1A>T (p.Met1Leu) rs747547191 0.00001
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072 0.00001
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859 0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) rs1457072724 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.822+1G>A rs1204744283 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000249.4(MLH1):c.*3A>G rs587778880 0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1039-5T>C rs587782626 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly) rs755898663 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.144A>C (p.Gln48His) rs147342421 0.00001
NM_000249.4(MLH1):c.1591G>A (p.Val531Met) rs764663152 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.1731+14C>G rs745643356 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.207+26del rs1057517621 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=) rs780045031 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.546-18T>C rs1057517622 0.00001
NM_000249.4(MLH1):c.601G>C (p.Val201Leu) rs534184145 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu) rs587778447 0.00001
NM_000249.4(MLH1):c.791-14T>C rs751254837 0.00001
NM_000249.4(MLH1):c.884+10C>T rs864622424 0.00001
NM_000249.4(MLH1):c.884+10del rs878853793 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu) rs587782087 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1077-15G>T rs753277524 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=) rs786202334 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu) rs754562075 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.1760-10T>A rs767536391 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.1831G>A (p.Val611Met) rs369385048 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu) rs267607982 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.2634+12T>C rs372907481 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.934C>G (p.Leu312Val) rs756398636 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro) rs753237286 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255 0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161 0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488 0.00001
NM_000255.4(MMUT):c.1560+1G>T rs200019422 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) rs878853237 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913 0.00001
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5637-173C>T rs207472020 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1948-1G>A rs1555634508 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.631+2T>C rs1555638833 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1540+1G>C rs199604072 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966 0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn) rs138070585 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn) rs772436715 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000310.4(PPT1):c.*529_*530insATCG rs1475500814 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.289G>A (p.Val97Met) rs750455879 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.315-1G>C rs776543880 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672 0.00001
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2475+19G>A rs373894772 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.2695-1G>C rs1057517420 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593 0.00001
NM_000353.3(TAT):c.1223C>T (p.Thr408Met) rs200815080 0.00001
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter) rs118203916 0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) rs757879229 0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000353.3(TAT):c.235+1G>A rs748924248 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1184C>T (p.Thr395Ile) rs372498705 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln) rs775373347 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu) rs1465243895 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.674G>A (p.Arg225His) rs549195122 0.00001
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter) rs1199770893 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000360.4(TH):c.1200+5G>C rs774895306 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000380.4(XPA):c.-43G>A rs886063217 0.00001
NM_000380.4(XPA):c.338_339del (p.Met113fs) rs748286715 0.00001
NM_000380.4(XPA):c.642_645dup (p.Gln216fs) rs764582394 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1552-1G>A rs1057516511 0.00001
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327 0.00001
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln) rs1553197383 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371 0.00001
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.2122-2A>G rs1341761252 0.00001
NM_000414.4(HSD17B4):c.58+121A>G rs775377217 0.00001
NM_000414.4(HSD17B4):c.58+123G>C rs762157656 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln) rs201177178 0.00001
NM_000426.4(LAMA2):c.1782+2dup rs1272011145 0.00001
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) rs398123369 0.00001
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) rs778059153 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser) rs398123370 0.00001
NM_000426.4(LAMA2):c.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.2451-6A>G rs896691971 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr) rs797045679 0.00001
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043 0.00001
NM_000426.4(LAMA2):c.3736-2A>T rs372715292 0.00001
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) rs138702650 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del) rs1446213044 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6269-820A>G rs544696321 0.00001
NM_000426.4(LAMA2):c.6269-855A>T rs1554297879 0.00001
NM_000426.4(LAMA2):c.6269-856C>G rs763589558 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His) rs797045680 0.00001
NM_000426.4(LAMA2):c.7572+1G>A rs1554305006 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1342-2A>C rs1413121429 0.00001
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) rs778901860 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.501_502insCAA (p.Asn167_Gly168insGln) rs758521444 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00001
NM_000455.5(STK11):c.1137C>T (p.His379=) rs786201505 0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp) rs752015385 0.00001
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln) rs371102112 0.00001
NM_000455.5(STK11):c.1174A>G (p.Met392Val) rs565993396 0.00001
NM_000455.5(STK11):c.1190C>T (p.Ala397Val) rs558040549 0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val) rs748202003 0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser) rs587782876 0.00001
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp) rs587782687 0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=) rs777784520 0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly) rs369764220 0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala) rs587781802 0.00001
NM_000455.5(STK11):c.464+8C>T rs863224669 0.00001
NM_000455.5(STK11):c.465-7C>T rs864622317 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.614C>T (p.Ala205Val) rs587782468 0.00001
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000455.5(STK11):c.863-6C>T rs757276643 0.00001
NM_000455.5(STK11):c.902G>A (p.Arg301Gln) rs370222210 0.00001
NM_000455.5(STK11):c.921-8G>A rs863224362 0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) rs755210880 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000455.5(STK11):c.976C>A (p.Pro326Thr) rs771632414 0.00001
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe) rs758049210 0.00001
NM_000465.4(BARD1):c.1315-21C>A rs747393586 0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) rs730881408 0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs) rs587782046 0.00001
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys) rs878854014 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu) rs148760338 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.147C>T (p.Asn49=) rs539884496 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.629A>G (p.His210Arg) rs748031071 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000492.4(CFTR):c.-602A>T rs879620559 0.00001
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His) rs778175128 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu) rs397508302 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2815C>G (p.His939Asp) rs397508439 0.00001
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val) rs397508448 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.290T>C (p.Val97Ala) rs1235363099 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr) rs397508555 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser) rs1554394076 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) rs1554397750 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys) rs750559671 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys) rs397508776 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.913T>G (p.Phe305Val) rs201885470 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418 0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) rs367634557 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691 0.00001
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg) rs757389720 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) rs387907572 0.00001
NM_000497.4(CYP11B1):c.955-1G>A rs1456715954 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1074-86G>A rs1050913691 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995 0.00001
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.346+2dup rs1430416918 0.00001
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407 0.00001
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His) rs750689750 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000528.4(MAN2B1):c.-19A>G rs886054234 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=) rs864622369 0.00001
NM_000546.6(TP53):c.1136G>A (p.Arg379His) rs863224682 0.00001
NM_000546.6(TP53):c.1151T>C (p.Met384Thr) rs1060501196 0.00001
NM_000546.6(TP53):c.171C>A (p.Asp57Glu) rs587782776 0.00001
NM_000546.6(TP53):c.188C>T (p.Ala63Val) rs372201428 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_000546.6(TP53):c.250G>A (p.Ala84Thr) rs587781307 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.399G>A (p.Met133Ile) rs1064795139 0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=) rs758781593 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.572C>G (p.Pro191Arg) rs587778718 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.877G>T (p.Gly293Trp) rs587780076 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.97-15T>C rs1555526843 0.00001
NM_000546.6(TP53):c.993+290T>C rs1642789 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1082+1G>C rs751112302 0.00001
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3259+3A>T rs748859491 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.83-17_83-16del rs751326594 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) rs769688327 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter) rs1317833419 0.00001
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) rs762067626 0.00001
NM_001039958.2(MESP2):c.885G>C (p.Thr295=) rs761196555 0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter) rs766664800 0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val) rs386833708 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.906+2T>A rs771788391 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.1222C>G (p.Leu408Val) rs587782043 0.00001
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) rs199575659 0.00001
NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=) rs768239149 0.00001
NM_001048174.2(MUTYH):c.138G>A (p.Glu46=) rs376861118 0.00001
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His) rs587782794 0.00001
NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu) rs780209880 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=) rs730881836 0.00001
NM_001048174.2(MUTYH):c.305-7C>A rs863224698 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp) rs773674701 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln) rs758567247 0.00001
NM_001048174.2(MUTYH):c.492+20G>A rs776504435 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.592A>G (p.Ile198Val) rs200965879 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.798C>T (p.Arg266=) rs587780750 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=) rs778782508 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.914-8G>A rs757672024 0.00001
NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu) rs587781601 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120 0.00001
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526 0.00001
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) rs775793638 0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001127511.3(APC):c.-12T>C rs1057517554 0.00001
NM_001127511.3(APC):c.122C>T (p.Pro41Leu) rs1057517584 0.00001
NM_001127511.3(APC):c.149G>C (p.Trp50Ser) rs1366978080 0.00001
NM_001127511.3(APC):c.3G>A (p.Met1Ile) rs1057517567 0.00001
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu) rs587781374 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119 0.00001
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.2698-2A>G rs1420930684 0.00001
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775 0.00001
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NM_001142800.2(EYS):c.2260-2dup rs1554220492 0.00001
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001164277.2(SLC37A4):c.*1A>G rs782422570 0.00001
NM_001164277.2(SLC37A4):c.-499C>T rs1236559416 0.00001
NM_001164277.2(SLC37A4):c.-522G>A rs1375919926 0.00001
NM_001164277.2(SLC37A4):c.-527C>T rs1290401578 0.00001
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395 0.00001
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=) rs946752823 0.00001
NM_001164277.2(SLC37A4):c.1124+49C>T rs782799385 0.00001
NM_001164277.2(SLC37A4):c.1124+8T>C rs377506675 0.00001
NM_001164277.2(SLC37A4):c.1125-29G>A rs1262126192 0.00001
NM_001164277.2(SLC37A4):c.1125-44G>A rs1256742179 0.00001
NM_001164277.2(SLC37A4):c.1125-53G>A rs1555190416 0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C rs782323567 0.00001
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala) rs1157093654 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.149-23C>T rs1283313486 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.149-6C>G rs1407509189 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His) rs782578166 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=) rs782358834 0.00001
NM_001164277.2(SLC37A4):c.382-16G>A rs778665353 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly) rs777627677 0.00001
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile) rs764654621 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.626+12C>T rs549251533 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.785+13T>C rs1351380633 0.00001
NM_001164277.2(SLC37A4):c.785+16G>A rs1283553362 0.00001
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro) rs1555191906 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=) rs369860234 0.00001
NM_001164277.2(SLC37A4):c.871+7G>A rs782177602 0.00001
NM_001164277.2(SLC37A4):c.872-11T>C rs1265857875 0.00001
NM_001164277.2(SLC37A4):c.872-16G>A rs766656496 0.00001
NM_001164277.2(SLC37A4):c.872-6C>G rs781985446 0.00001
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp) rs763008231 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val) rs957014690 0.00001
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu) rs955402383 0.00001
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=) rs782234184 0.00001
NM_001164277.2(SLC37A4):c.985+195C>T rs1189232257 0.00001
NM_001164277.2(SLC37A4):c.985+217C>T rs1213577149 0.00001
NM_001164277.2(SLC37A4):c.985+226C>T rs959584744 0.00001
NM_001164277.2(SLC37A4):c.985+245C>T rs1348642148 0.00001
NM_001164277.2(SLC37A4):c.985+246G>A rs1314659619 0.00001
NM_001164277.2(SLC37A4):c.985+259G>C rs1384684015 0.00001
NM_001164277.2(SLC37A4):c.985+270C>T rs782800127 0.00001
NM_001164277.2(SLC37A4):c.985+271A>C rs1313690608 0.00001
NM_001164277.2(SLC37A4):c.985+276G>A rs1555190629 0.00001
NM_001164277.2(SLC37A4):c.985+283A>G rs1009983005 0.00001
NM_001164277.2(SLC37A4):c.985+295G>A rs1208499204 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.986-15C>T rs782640506 0.00001
NM_001164277.2(SLC37A4):c.986-8C>T rs782425309 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 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.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1470+2dup rs1477702016 0.00001
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser) rs1232744915 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA rs1357452519 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 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.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=) rs368388044 0.00001
NM_001283009.2(RTEL1):c.396-48G>A rs1274609500 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449 0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr) rs763333510 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.626+1G>T rs1471145742 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.271+17732A>G rs781478530 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001370658.1(BTD):c.-59T>A rs768258310 0.00001
NM_001370658.1(BTD):c.-74G>A rs200884349 0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405 0.00001
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001378454.1(ALMS1):c.-19C>T rs1553396078 0.00001
NM_001378454.1(ALMS1):c.-20G>A rs935547269 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr) rs145678202 0.00001
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu) rs1170663588 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp) rs369256893 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553 0.00001
NM_001378454.1(ALMS1):c.11873-6C>T rs749542120 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930 0.00001
NM_001378454.1(ALMS1):c.12114+12T>C rs377393930 0.00001
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys) rs1270753573 0.00001
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124 0.00001
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser) rs267599450 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln) rs370978261 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319 0.00001
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967 0.00001
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile) rs373489525 0.00001
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val) rs545488125 0.00001
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.647-5T>C rs913268523 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg) rs145953016 0.00001
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val) rs368310126 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7541-15A>G rs1169514054 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val) rs199831059 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 0.00001
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys) rs1248081824 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys) rs200826787 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del rs1554821194 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter) rs1198732380 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys) rs398122974 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser) rs1553509297 0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593 0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614 0.00001
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442 0.00001
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466 0.00001
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.4102-563G>A rs207462825 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NM_001918.5(DBT):c.*358A>C rs1553228540 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_002225.5(IVD):c.1139-3C>G rs367891946 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys) rs369049359 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 0.00001
NM_002485.5(NBN):c.2070+2del rs1057517075 0.00001
NM_002485.5(NBN):c.2071-4A>G rs746994234 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.37+7G>A rs372850559 0.00001
NM_002485.5(NBN):c.38-7A>G rs863224392 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) rs1425486695 0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.776+2T>C rs1335685844 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002691.4(POLD1):c.1514G>A (p.Arg505His) rs1043752384 0.00001
NM_002691.4(POLD1):c.1686+11G>A rs534413213 0.00001
NM_002691.4(POLD1):c.1776-19G>A rs772329761 0.00001
NM_002691.4(POLD1):c.2007-15C>T rs769431445 0.00001
NM_002691.4(POLD1):c.2154+4G>A rs373416476 0.00001
NM_002691.4(POLD1):c.2251-4G>A rs768364989 0.00001
NM_002691.4(POLD1):c.2565-13C>T rs559638270 0.00001
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) rs555452657 0.00001
NM_002691.4(POLD1):c.2821-4G>A rs369042179 0.00001
NM_002691.4(POLD1):c.3068-13C>T rs575387524 0.00001
NM_002691.4(POLD1):c.317-2A>G rs761230747 0.00001
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) rs368033860 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.590-2A>G rs758877520 0.00001
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp) rs374730714 0.00001
NM_002878.4(RAD51D):c.198G>T (p.Val66=) rs200810304 0.00001
NM_002878.4(RAD51D):c.286G>T (p.Gly96Cys) rs762951311 0.00001
NM_002878.4(RAD51D):c.433C>T (p.Arg145Cys) rs755173206 0.00001
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter) rs775365939 0.00001
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter) rs771007945 0.00001
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln) rs780921112 0.00001
NM_002878.4(RAD51D):c.739-10T>C rs199998187 0.00001
NM_002878.4(RAD51D):c.739-3C>T rs1235042092 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile) rs1057517537 0.00001
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs) rs781330134 0.00001
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1587-1G>C rs766398620 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.498-1G>C rs747592919 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003640.5(ELP1):c.1461-1G>A rs539544212 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.2860+2T>C rs754348901 0.00001
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_003640.5(ELP1):c.552+1G>T rs765572951 0.00001
NM_003823.4(TNFRSF6B):c.*10C>T rs766685059 0.00001
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr) rs750153793 0.00001
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys) rs753653499 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999 0.00001
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) rs878854625 0.00001
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) rs143798161 0.00001
NM_004168.4(SDHA):c.1432+16A>G rs753631065 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) rs878854638 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531 0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.676-3A>C rs587782760 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004360.5(CDH1):c.1009-14C>T rs368293695 0.00001
NM_004360.5(CDH1):c.1090A>T (p.Thr364Ser) rs778868539 0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.1138-15C>G rs752733398 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.1266A>G (p.Gln422=) rs776805501 0.00001
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr) rs758764445 0.00001
NM_004360.5(CDH1):c.1319A>G (p.Lys440Arg) rs864622165 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr) rs1060501247 0.00001
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn) rs115408226 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr) rs587781859 0.00001
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys) rs767613429 0.00001
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg) rs779648243 0.00001
NM_004360.5(CDH1):c.2318A>G (p.His773Arg) rs587782823 0.00001
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr) rs777078601 0.00001
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile) rs587782466 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.2440-6del rs745901278 0.00001
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser) rs587780121 0.00001
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile) rs754388534 0.00001
NM_004360.5(CDH1):c.2603G>A (p.Arg868His) rs369126891 0.00001
NM_004360.5(CDH1):c.286A>G (p.Ile96Val) rs749306433 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004360.5(CDH1):c.582C>T (p.Gly194=) rs786202924 0.00001
NM_004360.5(CDH1):c.867G>A (p.Ala289=) rs754143182 0.00001
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr) rs749056300 0.00001
NM_004628.5(XPC):c.1229A>G (p.Glu410Gly) rs587778762 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.2033+4C>T rs753195190 0.00001
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala) rs55779831 0.00001
NM_004628.5(XPC):c.2703del (p.Ala902fs) rs1280251289 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.739C>T (p.Arg247Ter) rs764321665 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747 0.00001
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=) rs267605438 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.3312-23C>T rs755493354 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.58+1G>A rs386833954 0.00001
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg) rs755962215 0.00001
NM_004937.3(CTNS):c.-8C>T rs372701935 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.572C>G (p.Ser191Ter) rs1357906793 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005609.4(PYGM):c.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1378G>A (p.Val460Met) rs753586583 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.1524G>T (p.Gln508His) rs762030811 0.00001
NM_006231.4(POLE):c.2562-5T>G rs1461925348 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.3061-12G>C rs779496994 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5379-5T>C rs761910924 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006261.5(PROP1):c.110-2A>G rs1057516846 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) rs878854915 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) rs775134484 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) rs767656411 0.00001
NM_007294.4(BRCA1):c.*743G>T rs886052971 0.00001
NM_007294.4(BRCA1):c.*800T>C rs1555574136 0.00001
NM_007294.4(BRCA1):c.-20+103G>C rs1057517546 0.00001
NM_007294.4(BRCA1):c.-20+55G>A rs772215665 0.00001
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr) rs79727659 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg) rs863224752 0.00001
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln) rs769650474 0.00001
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr) rs80356863 0.00001
NM_007294.4(BRCA1):c.135-18T>G rs80358085 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) rs80357360 0.00001
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg) rs62625304 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp) rs398122639 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met) rs552505690 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474 0.00001
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355 0.00001
NM_007294.4(BRCA1):c.1998A>G (p.Leu666=) rs864622452 0.00001
NM_007294.4(BRCA1):c.212+4T>C rs398122652 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335 0.00001
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) rs80357051 0.00001
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) rs786204151 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) rs398122662 0.00001
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val) rs80357091 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile) rs864622588 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.290C>G (p.Thr97Arg) rs431825393 0.00001
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) rs431825394 0.00001
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691 0.00001
NM_007294.4(BRCA1):c.301+10G>A rs80358001 0.00001
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311 0.00001
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr) rs786202155 0.00001
NM_007294.4(BRCA1):c.3286del (p.Gln1096fs) rs80357533 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile) rs748894760 0.00001
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867 0.00001
NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val) rs762744684 0.00001
NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile) rs786202900 0.00001
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) rs80356944 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys) rs398122676 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn) rs80357189 0.00001
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) rs80357047 0.00001
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr) rs142383077 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg) rs80357500 0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys) rs80357457 0.00001
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly) rs55639854 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4185+9C>T rs80358034 0.00001
NM_007294.4(BRCA1):c.4186-19C>T rs80358016 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4358-2715C>A rs746972533 0.00001
NM_007294.4(BRCA1):c.4358-2735A>G rs1057517571 0.00001
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala) rs587782606 0.00001
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) rs398122686 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=) rs756281673 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met) rs273900737 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys) rs80357045 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu) rs55816927 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.5074+14C>T rs370299792 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.5332+3A>G rs766614917 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5467+22G>C rs779046757 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_007294.4(BRCA1):c.548-3T>C rs397507252 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=) rs786201502 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138 0.00001
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp) rs397509319 0.00001
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs) rs80357707 0.00001
NM_007294.4(BRCA1):c.80+7C>T rs80358098 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_012144.4(DNAI1):c.1719-11C>T rs774758389 0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.214+1G>T rs1244822375 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955 0.00001
NM_013339.4(ALG6):c.429+1G>T rs781097055 0.00001
NM_013339.4(ALG6):c.495-2A>G rs1227131990 0.00001
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802 0.00001
NM_014249.4(NR2E3):c.-10C>T rs771015928 0.00001
NM_014249.4(NR2E3):c.1101-10T>C rs763647845 0.00001
NM_014249.4(NR2E3):c.119-6C>T rs745910334 0.00001
NM_014249.4(NR2E3):c.183C>T (p.Ile61=) rs771404428 0.00001
NM_014249.4(NR2E3):c.350-31C>T rs1322109793 0.00001
NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser) rs1261697277 0.00001
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) rs779518180 0.00001
NM_014249.4(NR2E3):c.747+10G>A rs780825147 0.00001
NM_014249.4(NR2E3):c.858C>T (p.Ala286=) rs566024312 0.00001
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190 0.00001
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491 0.00001
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747 0.00001
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977 0.00001
NM_014625.4(NPHS2):c.378+1G>A rs762631237 0.00001
NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter) rs755972674 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.873+2T>A rs967339926 0.00001
NM_014625.4(NPHS2):c.88G>A (p.Glu30Lys) rs1477180313 0.00001
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe) rs748203170 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile) rs1227088497 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_015346.4(ZFYVE26):c.1017+1G>T rs1224762841 0.00001
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) rs981804211 0.00001
NM_015346.4(ZFYVE26):c.2333-1G>C rs746606852 0.00001
NM_015346.4(ZFYVE26):c.273+8G>A rs750522064 0.00001
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632 0.00001
NM_015346.4(ZFYVE26):c.4089_4091del (p.Pro1364del) rs1487236153 0.00001
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) rs868672014 0.00001
NM_015346.4(ZFYVE26):c.7504C>T (p.Gln2502Ter) rs1555392776 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_017739.4(POMGNT1):c.*30_*33del rs1553162554 0.00001
NM_017739.4(POMGNT1):c.*404_*405dup rs940315351 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020533.3(MCOLN1):c.984+1G>A rs767950930 0.00001
NM_020975.6(RET):c.139G>A (p.Gly47Ser) rs529018971 0.00001
NM_020975.6(RET):c.1648+24G>A rs1057517640 0.00001
NM_020975.6(RET):c.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) rs777122776 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) rs193922700 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2607+5G>A rs143862573 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2802-4G>T rs878855061 0.00001
NM_020975.6(RET):c.2887C>A (p.Leu963Ile) rs864622603 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) rs776615468 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.667G>A (p.Val223Met) rs587780815 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.835G>A (p.Ala279Thr) rs777221273 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter) rs941971930 0.00001
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter) rs1162410484 0.00001
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs) rs758100654 0.00001
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup) rs778682733 0.00001
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr) rs760075470 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) rs752243337 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693 0.00001
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.518+1G>A rs771517209 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) rs587782483 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) rs749461008 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.1685-14T>A rs780772404 0.00001
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe) rs757397623 0.00001
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) rs1169756751 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) rs749842477 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) rs45537237 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) rs786202846 0.00001
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) rs148026749 0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) rs587778585 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2748+13C>G rs771355581 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile) rs764140747 0.00001
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) rs143808171 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3201+20G>T rs774029323 0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) rs747861082 0.00001
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) rs188254555 0.00001
NM_024675.4(PALB2):c.3351-10A>G rs1057517611 0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) rs373783514 0.00001
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr) rs146444298 0.00001
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) rs45566737 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) rs146659762 0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) rs370404126 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) rs587781498 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=) rs571762192 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) rs786203246 0.00001
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile) rs786202499 0.00001
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe) rs751882053 0.00001
NM_024675.4(PALB2):c.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) rs45585833 0.00001
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) rs528541334 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=) rs760362870 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.730_732del (p.Ala244del) rs1171314440 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 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.1321G>A (p.Val441Met) rs1060501782 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val) rs45533636 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_032316.3(NICN1):c.*2317A>G rs1553638927 0.00001
NM_032316.3(NICN1):c.*2325C>T rs753743263 0.00001
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) rs1407085233 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_052845.3(MMAB):c.-69G>A rs886048928 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.773+49C>T rs763389916 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.838+1G>T rs750214431 0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile) rs776987532 0.00001
NM_058195.4(CDKN2A):c.193+7A>G rs770519197 0.00001
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys) rs1057517601 0.00001
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu) rs1057517575 0.00001
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005 0.00001
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366 0.00001
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) rs1166980943 0.00001
NM_133259.4(LRPPRC):c.4128+1G>A rs1475772376 0.00001
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter) rs1163476569 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) rs267601071 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6996+9T>A rs878855203 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp) rs752776137 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu) rs141169758 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 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.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 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.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4224+6A>G rs1173901763 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152618.3(BBS12):c.*803_*804insT rs1332628916 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) rs755314355 0.00001
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128 0.00001
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564 0.00001
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153676.4(USH1C):c.2656-1G>A rs747133793 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 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.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 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_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.254-2057T>C rs778574679 0.00001
NM_174878.3(CLRN1):c.254-2082T>G rs963890618 0.00001
NM_174878.3(CLRN1):c.254-2111del rs1211060908 0.00001
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) rs774916970 0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_198129.4(LAMA3):c.10000T>A (p.Ter3334Lys) rs1555756804 0.00001
NM_198129.4(LAMA3):c.1064-1G>A rs780441868 0.00001
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter) rs757972988 0.00001
NM_198129.4(LAMA3):c.1742-1G>A rs778808869 0.00001
NM_198129.4(LAMA3):c.2147+1G>A rs1555700517 0.00001
NM_198129.4(LAMA3):c.2571+2dup rs1203300407 0.00001
NM_198129.4(LAMA3):c.3093+1G>C rs1392528129 0.00001
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter) rs868258726 0.00001
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter) rs1317347725 0.00001
NM_198129.4(LAMA3):c.5113-2A>G rs1057516475 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746 0.00001
NM_198129.4(LAMA3):c.8295+2T>C rs1555743457 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.9511+1G>A rs1296034886 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11047+1G>A rs201730567 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) rs768813865 0.00001
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.419C>A (p.Pro140His) rs759474177 0.00001
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu) rs1388648004 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5858-12A>G rs727503727 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr) rs1177455978 0.00001
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) rs199825458 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 0.00001
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn) rs750687826 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser) rs752996514 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9959-1G>A rs970237364 0.00001
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 0.00001
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.3(RMRP):n.-20_-2dup rs1554651404 0.00001
NR_003051.3(RMRP):n.-21_-2dup rs1554651403 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-23_-10dup rs1554651489 0.00001
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428 0.00001
NR_003051.3(RMRP):n.-23_-6dup rs1554651453 0.00001
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NR_003051.4(RMRP):n.71_72delGA rs1491544612 0.00001
NC_000005.10:g.70946066_70946176del rs1554082110
NC_000014.9:g.87925139C>T rs1555377065
NC_000014.9:g.87925152T>C rs1555377066
NC_000014.9:g.87925176G>A rs1234372203
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.(?_151209)_(182142_?)del
NC_000016.10:g.(?_169780)_(182142_?)del
NM_000016.6(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.6(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) rs875989875
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.118+1G>T rs113887538
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.1195-1G>C rs1553127378
NM_000016.6(ACADM):c.1195-2A>T rs879234543
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del) rs1553127399
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu) rs1553127400
NM_000016.6(ACADM):c.173_174del (p.Glu58fs) rs1057517179
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.6(ACADM):c.216+1G>T rs1057516801
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.270_271del (p.Ile91fs) rs766173642
NM_000016.6(ACADM):c.286+2T>G rs1553122996
NM_000016.6(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.6(ACADM):c.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1G>T rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.387+2dup rs1553123086
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.469-2A>C rs1553123857
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del) rs1553123864
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.539_541del (p.Gly180del) rs776120077
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.708+2T>G rs1553124805
NM_000016.6(ACADM):c.708+6G>T rs958629659
NM_000016.6(ACADM):c.709-2A>C rs1553125211
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup) rs760137614
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT rs1553125391
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA rs1553125389
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.6(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.6(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr) rs768733898
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) rs541587321
NM_000017.4(ACADS):c.1086+1G>A rs1555244367
NM_000017.4(ACADS):c.1086+1G>T rs1555244367
NM_000017.4(ACADS):c.1086+1del rs1555244366
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter) rs1555244413
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.1182del (p.Ser395fs) rs1555244432
NM_000017.4(ACADS):c.1213del (p.His405fs) rs1555244455
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile) rs1358146160
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.315del (p.Ser106fs) rs1057516385
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.32del (p.Gly11fs) rs1057516967
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) rs752677472
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) rs149107232
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile) rs764413160
NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln) rs1555243966
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup) rs1555243967
NM_000017.4(ACADS):c.47-6C>A rs749023748
NM_000017.4(ACADS):c.473-2A>G rs1057516231
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.675dup (p.Lys226fs) rs1057516436
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del) rs1555244266
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup) rs1555244270
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000017.4(ACADS):c.995C>T (p.Ala332Val) rs1555244290
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC rs6145976
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC rs753389263
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT rs1555527399
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG rs1555527393
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA rs1555527401
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG rs1555527385
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del) rs1315330884
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1182+2T>C rs1555528635
NM_000018.4(ACADVL):c.1183-1G>A rs1057516818
NM_000018.4(ACADVL):c.1183-2dup rs1555528721
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1270-38A>G rs1555528742
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1333-25T>C rs770876053
NM_000018.4(ACADVL):c.1333-2A>T rs1057517280
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs) rs1057517331
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.139-3C>T rs1555527630
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr) rs1555528803
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1434+24G>A rs1555528806
NM_000018.4(ACADVL):c.1434+27G>A rs1271483942
NM_000018.4(ACADVL):c.1434+2T>G rs1555528804
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1532+7T>C rs534469222
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro) rs200771970
NM_000018.4(ACADVL):c.1606-1G>A rs1057517386
NM_000018.4(ACADVL):c.1606-28G>A rs773931227
NM_000018.4(ACADVL):c.1606-2A>C rs113467582
NM_000018.4(ACADVL):c.1606-36G>A rs890862631
NM_000018.4(ACADVL):c.1606-42C>G rs372357967
NM_000018.4(ACADVL):c.1606-42C>T rs372357967
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=) rs1555528948
NM_000018.4(ACADVL):c.1678+27C>A rs759729168
NM_000018.4(ACADVL):c.1679-5del rs1555528999
NM_000018.4(ACADVL):c.16_32del (p.Met6fs) rs1555527450
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs) rs1555529004
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer) rs1057516226
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter) rs1555529172
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.204+31dup rs1555527700
NM_000018.4(ACADVL):c.204+5G>A rs958328801
NM_000018.4(ACADVL):c.205-5C>G rs768537914
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr) rs1555527718
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs) rs1452339268
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter) rs1555527732
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+1G>T rs1057517012
NM_000018.4(ACADVL):c.277+1del rs1555527741
NM_000018.4(ACADVL):c.277+27del rs775298132
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs) rs1555527806
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del) rs1555527820
NM_000018.4(ACADVL):c.33del (p.Arg12fs) rs1555527464
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter) rs1555527907
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser) rs1032857886
NM_000018.4(ACADVL):c.478-1G>C rs1057517130
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.62+10del rs1251002707
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.623-2_623-1del rs1555528265
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000018.4(ACADVL):c.759_761del (p.Gly254del) rs1555528346
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.891del (p.Lys298fs) rs1057517180
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly) rs1555528469
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) rs1555843039
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.479-3_479-2del rs1555844457
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del) rs1555568389
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala) rs1555568984
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.718T>G (p.Phe240Val) rs1555569031
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn) rs1555569038
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del) rs750086289
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del) rs1555569303
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1571G>C (p.Gly524Ala) rs587782868
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.170A>T (p.Asp57Val) rs794729227
NM_000038.6(APC):c.1744-14_1744-13del rs1554083086
NM_000038.6(APC):c.1958+27del rs1402242990
NM_000038.6(APC):c.2196T>C (p.Asn732=) rs781693283
NM_000038.6(APC):c.2309C>G (p.Ser770Ter) rs1060503310
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.2483C>T (p.Thr828Ile) rs786203696
NM_000038.6(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.6(APC):c.2659A>G (p.Ile887Val) rs730881241
NM_000038.6(APC):c.2716T>G (p.Ser906Ala) rs786204146
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) rs1057517553
NM_000038.6(APC):c.3040A>G (p.Met1014Val) rs1554084654
NM_000038.6(APC):c.3179_3184del (p.Ile1060_Gln1062delinsLys) rs1057517624
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3275A>C (p.His1092Pro) rs587779788
NM_000038.6(APC):c.332G>A (p.Ser111Asn) rs786202322
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3535T>C (p.Tyr1179His) rs751249843
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3956del (p.Pro1319fs) rs1057517558
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile) rs373607243
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-28G>T rs570467572
NM_000038.6(APC):c.4456_4458del (p.Asp1486del) rs761504791
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs) rs1554086015
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4783G>C (p.Ala1595Pro) rs749782426
NM_000038.6(APC):c.4850_4855del (p.Leu1617_Leu1618del) rs1057517588
NM_000038.6(APC):c.5240T>C (p.Met1747Thr) rs864622751
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.532-939G>A rs551489857
NM_000038.6(APC):c.532-939G>T rs551489857
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly) rs764203580
NM_000038.6(APC):c.5432C>T (p.Ser1811Leu) rs1060503325
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) rs587778029
NM_000038.6(APC):c.5603ATG[5] (p.Asp1871dup) rs779014936
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5743A>G (p.Lys1915Glu) rs587778031
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu) rs587779801
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6310A>G (p.Ile2104Val) rs878853462
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.6474C>A (p.Pro2158=) rs772027192
NM_000038.6(APC):c.6775A>G (p.Lys2259Glu) rs763707129
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del) rs1057517569
NM_000038.6(APC):c.6850C>A (p.Pro2284Thr) rs1554087789
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.7105_7107del (p.Pro2369del) rs1064794884
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565
NM_000038.6(APC):c.730-3C>T rs786203125
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu) rs758713824
NM_000038.6(APC):c.7402T>G (p.Ser2468Ala) rs375586273
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.6(APC):c.7865C>T (p.Pro2622Leu) rs267600320
NM_000038.6(APC):c.7945C>T (p.Pro2649Ser) rs864622245
NM_000038.6(APC):c.8128A>C (p.Ser2710Arg) rs760472102
NM_000038.6(APC):c.8189C>T (p.Ala2730Val) rs976132108
NM_000038.6(APC):c.8258A>G (p.Glu2753Gly) rs876660649
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr) rs863224553
NM_000038.6(APC):c.835-15G>A rs1057521022
NM_000038.6(APC):c.836G>T (p.Gly279Val) rs587780607
NM_000038.6(APC):c.8419A>C (p.Thr2807Pro) rs894164638
NM_000038.6(APC):c.876G>C (p.Leu292Phe) rs760059672
NM_000038.6(APC):c.895T>A (p.Ser299Thr) rs763630775
NM_000038.6(APC):c.933+19C>A rs778599778
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_000045.4(ARG1):c.124_126del (p.Glu42del) rs779949397
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.130+1G>T rs113767658
NM_000045.4(ARG1):c.131-7_131-2del rs768972828
NM_000045.4(ARG1):c.131-9dup rs1160133142
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) rs1554249332
NM_000045.4(ARG1):c.422A>T (p.His141Leu) rs1554250849
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer) rs1554250852
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro) rs1554251136
NM_000045.4(ARG1):c.58-2A>C rs1554250040
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) rs1554251158
NM_000045.4(ARG1):c.693del (p.Phe231fs) rs1554251191
NM_000045.4(ARG1):c.767_769del (p.Glu256del) rs1554251236
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) rs747579073
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000045.4(ARG1):c.874del (p.Thr292fs) rs771395982
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000045.4(ARG1):c.945dup (p.Asp316Ter) rs1420954130
NM_000045.4(ARG1):c.959_962del (p.Pro320fs) rs1554251368
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.1062+1G>T rs1554327825
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1102A>G (p.Met368Val) rs1554328202
NM_000048.4(ASL):c.1105del (p.Leu369fs) rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1164C>G (p.His388Gln) rs75300185
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1249_1250+12del rs1554328381
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1325del (p.Gly442fs) rs1554328479
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) rs1554326365
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.485A>G (p.Gln162Arg) rs1554327025
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.686G>C (p.Ser229Thr) rs1554327272
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.785T>C (p.Leu262Pro) rs1554327586
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) rs868834862
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000049.4(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.4(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.4(ASPA):c.236+1G>A rs1555538157
NM_000049.4(ASPA):c.237-1G>A rs1057517291
NM_000049.4(ASPA):c.237-1G>T rs1057517291
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs) rs1555539105
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del) rs1555539888
NM_000049.4(ASPA):c.626del (p.Phe209fs) rs1555539897
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.4(ASPA):c.650_651del (p.Pro217fs) rs1057516498
NM_000049.4(ASPA):c.679_682del (p.Glu227fs) rs1555540674
NM_000049.4(ASPA):c.697del (p.Arg233fs) rs1057516315
NM_000049.4(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.4(ASPA):c.745-1G>A rs1555541278
NM_000049.4(ASPA):c.745-2A>G rs1057517066
NM_000049.4(ASPA):c.796dup (p.Asp266fs) rs1555541291
NM_000049.4(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del) rs1555541321
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.4(ASPA):c.922del (p.Ile308fs) rs1057516309
NM_000049.4(ASPA):c.924del (p.Arg309fs) rs1057517260
NM_000049.4(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_000050.4(ASS1):c.366delG rs1057516544
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-111_-109delinsAC rs1555051087
NM_000051.4(ATM):c.-31+595G>A rs1555051574
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-1G>T rs876660038
NM_000051.4(ATM):c.1066-2A>C rs1555069514
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del) rs1555073166
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2125-1G>A rs1402299151
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2839-18dup rs730881287
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.318A>C (p.Lys106Asn) rs1555055319
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile) rs1555086177
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys) rs1227046364
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4436+1G>T rs1555097894
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del) rs1555099818
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4612-1G>A rs1555100351
NM_000051.4(ATM):c.4612-2A>C rs1555100347
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5320-4_5323del rs1057516540
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6452+6A>G rs878853531
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer) rs1555119092
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.4(ATM):c.6975+5_6975+9del rs1555120086
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7123AGT[1] (p.Ser2376del) rs1555121978
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7629+2dup rs1555124141
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.4(ATM):c.8671+2T>C rs1057516229
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8987+3_8987+35del rs774188684
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-2A>C rs786202087
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_000053.3(ATP7B):c.-127_-126GC[2][1] rs1322135702
NM_000053.3(ATP7B):c.-128_-127insGCCGT rs766338038
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.4(ATP7B):c.-388C>T rs913869716
NM_000053.4(ATP7B):c.-436_-422del rs1484840087
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) rs751202110
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) rs1555286633
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) rs1555282097
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) rs1057517265
NM_000055.4(BCHE):c.1027dup (p.Thr343fs) rs754214624
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) rs1553778114
NM_000055.4(BCHE):c.1073dup (p.Leu358fs) rs1057516450
NM_000055.4(BCHE):c.110del (p.Lys37fs) rs1057517439
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) rs1057517221
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) rs1278095773
NM_000055.4(BCHE):c.1240del (p.Arg414fs) rs1057517288
NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del) rs1398106709
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) rs762341786
NM_000055.4(BCHE):c.1372dup (p.Trp458fs) rs1553778044
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) rs1553778017
NM_000055.4(BCHE):c.149del (p.Gly50fs) rs762189020
NM_000055.4(BCHE):c.1615dup (p.Met539fs) rs1553774172
NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter) rs747099939
NM_000055.4(BCHE):c.1684+1G>T rs1057516496
NM_000055.4(BCHE):c.1685-2A>G rs779366544
NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup) rs1553772963
NM_000055.4(BCHE):c.185C>T (p.Ala62Val) rs1553778274
NM_000055.4(BCHE):c.206_207del (p.Leu69fs) rs1057516784
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) rs3732880
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) rs760182781
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) rs1553778291
NM_000055.4(BCHE):c.493del (p.Glu165fs) rs1057516707
NM_000055.4(BCHE):c.495_498del (p.Arg166fs) rs772259613
NM_000055.4(BCHE):c.611del (p.Gln204fs) rs1553778198
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) rs568724445
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) rs1057517208
NM_000055.4(BCHE):c.662del (p.Thr221fs) rs1553778185
NM_000055.4(BCHE):c.666_667del (p.Phe223fs) rs747983616
NM_000055.4(BCHE):c.687del (p.Ala230fs) rs1553778179
NM_000055.4(BCHE):c.793del (p.Tyr265fs) rs778568717
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.4131_4132ins6
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter) rs28897761
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala) rs80358395
NM_000059.4(BRCA2):c.10150C>G (p.Arg3384Gly) rs397507568
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser) rs863224584
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=) rs786203441
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1062dup (p.Val355fs) rs1555281716
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys) rs80358410
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr) rs1057517562
NM_000059.4(BRCA2):c.1257del (p.Cys419fs) rs80359272
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter) rs397507579
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu) rs587776459
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu) rs80358430
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) rs138734772
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) rs587782713
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter) rs1555282048
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg) rs80358473
NM_000059.4(BRCA2):c.189A>C (p.Lys63Asn) rs80358480
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1910-2A>T rs1228762581
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr) rs80358482
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg) rs80358484
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro) rs80358490
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile) rs55824746
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys) rs56331088
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys) rs587781915
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala) rs80358524
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr) rs786203045
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter) rs979372317
NM_000059.4(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser) rs730881515
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr) rs397507293
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2808del (p.Lys936fs) rs398122753
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala) rs730881517
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del) rs80359360
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly) rs398122759
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg) rs80358549
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr) rs764921920
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.4(BRCA2):c.308dup (p.Leu103fs) rs1057517572
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr) rs276174832
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3295del (p.Ser1099fs) rs80359383
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr) rs80358590
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs) rs80359387
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3612T>C (p.Ala1204=) rs863224305
NM_000059.4(BRCA2):c.3758C>T (p.Ala1253Val) rs730881527
NM_000059.4(BRCA2):c.3767del (p.His1256fs) rs1555283393
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter) rs1555283397
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr) rs80358625
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del) rs397507319
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter) rs397507320
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly) rs1060502476
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg) rs55796504
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val) rs56248502
NM_000059.4(BRCA2):c.4110C>A (p.Gly1370=) rs758430181
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile) rs80358661
NM_000059.4(BRCA2):c.4216_4218del (p.Lys1406del) rs758636052
NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala) rs878853581
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile) rs786202874
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg) rs587782185
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu) rs80358674
NM_000059.4(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile) rs786202031
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter) rs1057517636
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg) rs80359788
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs) rs1555283876
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.4(BRCA2):c.475+14C>T rs55698822
NM_000059.4(BRCA2):c.476-2A>G rs81002853
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg) rs80358707
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.487A>C (p.Ser163Arg) rs767985386
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val) rs80358713
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe) rs397507342
NM_000059.4(BRCA2):c.4935del (p.Glu1646fs) rs80359472
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr) rs398122792
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.517-12C>A rs398122795
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) rs80359492
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val) rs587778120
NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter) rs1555284111
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del) rs397507775
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter) rs1555284120
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter) rs80358751
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys) rs786201560
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter) rs80358767
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val) rs80358770
NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs) rs1057517595
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys) rs138489917
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly) rs786202808
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val) rs80358793
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His) rs876658494
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val) rs397507798
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs) rs1555284402
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His) rs587783043
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn) rs397507363
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs) rs397507826
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs) rs1555284538
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter) rs80358851
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.6198_6199del (p.Ser2067fs) rs80359564
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.631+2T>A rs81002899
NM_000059.4(BRCA2):c.631+7A>G rs431825339
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs) rs431825342
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln) rs1403648108
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter) rs397507860
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys) rs397507374
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys) rs397507374
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6601T>C (p.Ser2201Pro) rs869320796
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe) rs1057517557
NM_000059.4(BRCA2):c.67+16A>T rs529148674
NM_000059.4(BRCA2):c.67+19del rs1555280125
NM_000059.4(BRCA2):c.67+2T>C rs81002885
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs) rs1555284811
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg) rs80358903
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His) rs80358905
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.681+8_681+11del rs1555281365
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs) rs80359626
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val) rs80358908
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.6907T>C (p.Ser2303Pro) rs1060502494
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr) rs80358922
NM_000059.4(BRCA2):c.6959T>C (p.Leu2320Ser) rs80358923
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7008-20_7008-17del rs276174887
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7022G>T (p.Arg2341Leu) rs786202839
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7037A>G (p.Asn2346Ser) rs397507381
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys) rs80358939
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn) rs398122575
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs) rs1555286052
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly) rs80358953
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.4(BRCA2):c.7331A>G (p.Asp2444Gly) rs431825352
NM_000059.4(BRCA2):c.7343A>G (p.Lys2448Arg) rs431825353
NM_000059.4(BRCA2):c.734G>C (p.Arg245Thr) rs879255462
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7398A>G (p.Val2466=) rs863224311
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.7436-19A>G rs398122583
NM_000059.4(BRCA2):c.7487A>C (p.Lys2496Thr) rs80358975
NM_000059.4(BRCA2):c.7493A>C (p.Lys2498Thr) rs587776469
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe) rs571800995
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser) rs397507388
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.764dup (p.Asn255fs) rs1555281474
NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys) rs876659501
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7806-3C>G rs863224598
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.793+1G>C rs81002846
NM_000059.4(BRCA2):c.794-17G>A rs750013303
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs) rs863224828
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly) rs80359039
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg) rs587781889
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly) rs398122597
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs) rs80359696
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg) rs80359059
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.4(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8246AGA[1] (p.Lys2750del) rs80359703
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750
NM_000059.4(BRCA2):c.8324T>A (p.Met2775Lys) rs80359073
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr) rs80359073
NM_000059.4(BRCA2):c.8331+15A>G rs550087774
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs) rs80359707
NM_000059.4(BRCA2):c.8352G>A (p.Arg2784=) rs747664806
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu) rs786202034
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys) rs398122603
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val) rs80359083
NM_000059.4(BRCA2):c.8438G>A (p.Gly2813Glu) rs80359092
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp) rs56096120
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val) rs80359098
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter) rs80359102
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe) rs863224599
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys) rs80359112
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs) rs80359721
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe) rs80359138
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr) rs80359139
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg) rs587781800
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter) rs276174913
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter) rs80359146
NM_000059.4(BRCA2):c.8953+16del rs1555288414
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.8958A>G (p.Ile2986Met) rs398122719
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9117+9C>T rs81002869
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn) rs201561974
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer) rs876659047
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.9256+1G>A rs81002883
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter) rs80359200
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val) rs80359203
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg) rs397507426
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly) rs80359216
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met) rs587776476
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu) rs397508057
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp) rs80359235
NM_000059.4(BRCA2):c.9648+1G>A rs730881573
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys) rs397507435
NM_000059.4(BRCA2):c.9746C>T (p.Thr3249Ile) rs1555289943
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.1115+1G>A rs1555421293
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1198del (p.Ser400fs) rs1555421842
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs) rs1555421854
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His) rs727503838
NM_000070.3(CAPN3):c.1355-6G>T rs28364485
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1537-40C>G rs1172112518
NM_000070.3(CAPN3):c.1642del (p.Arg548fs) rs1555422293
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs) rs1555422298
NM_000070.3(CAPN3):c.1711del (p.Leu571fs) rs1334369407
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del) rs80338803
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1833CAA[1] (p.Asn612del) rs1555422829
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.3(CAPN3):c.1882del (p.Thr628fs) rs1555422847
NM_000070.3(CAPN3):c.1914+13G>C rs769337232
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs) rs1555422954
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg) rs1555422962
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del) rs770529441
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>C rs886042108
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs) rs1555423046
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.212del (p.Lys71fs) rs1555417321
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2184+2T>C rs1555423146
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup) rs1555423156
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His) rs201012232
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del) rs1555423200
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr) rs1457098622
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln) rs1555417328
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.2440-8_2440-7insA rs1555423427
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.369del (p.Gly124fs) rs1555420083
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del) rs1555417278
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000070.3(CAPN3):c.835_837del (p.Ser279del) rs776185666
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000071.3(CBS):c.*19G>A rs1555869794
NM_000071.3(CBS):c.*19G>C rs1555869794
NM_000071.3(CBS):c.*20T>C rs1555869789
NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.3(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1219_1223+8del rs1555872787
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1358+2T>C rs866630296
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.3(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.3(CBS):c.1552+1G>A rs1434118781
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.209+2T>C rs1555876755
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.316+1G>A rs1057516256
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.3(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.3(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.3(CBS):c.738del rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.829-1G>C rs1555874263
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del) rs770784286
NM_000075.4(CDK4):c.505_522+5del rs1555201295
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.150+104_150+105del rs1057517608
NM_000077.5(CDKN2A):c.150+1104C>T rs756102261
NM_000077.5(CDKN2A):c.150+170dup rs753316964
NM_000077.5(CDKN2A):c.150+193G>A rs1057517587
NM_000077.5(CDKN2A):c.150+71_150+76del rs753508262
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser) rs778971134
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.458-465G>C rs563204204
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.4(ERCC8):c.276-2A>G rs1554074597
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.719-2A>G rs1554073117
NM_000082.4(ERCC8):c.719-2A>T rs1554073117
NM_000082.4(ERCC8):c.77+2T>G rs1554076239
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3]) rs1553762295
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.325-18G>T rs777117192
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg) rs1553766932
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.5(COL4A4):c.114+1G>C rs1553712110
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.5(COL4A4):c.3151-2A>G rs1369097739
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.372+2T>G rs1553696207
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4081+14C>T rs1553623984
NM_000092.5(COL4A4):c.4081+15T>C rs1356475870
NM_000092.5(COL4A4):c.4081+22A>C rs1553623967
NM_000092.5(COL4A4):c.4081+22A>G rs1553623967
NM_000092.5(COL4A4):c.4091-323A>G rs774221440
NM_000092.5(COL4A4):c.4091-346A>G rs753906137
NM_000092.5(COL4A4):c.4091-348T>C rs1553620812
NM_000092.5(COL4A4):c.4091-349G>A rs1434118080
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4809+1G>A rs1553612309
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.975+1G>C rs1553683192
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs) rs1553169726
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) rs761438840
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) rs1057517507
NM_000098.3(CPT2):c.1360_1362del (p.Glu454del) rs1553169768
NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter) rs1553169771
NM_000098.3(CPT2):c.1404G>T (p.Gln468His) rs140771069
NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter) rs1469108369
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1563del (p.Arg522fs) rs1229197873
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) rs1057517517
NM_000098.3(CPT2):c.1645+2T>G rs1057517473
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1933dup (p.Glu645fs) rs1553170033
NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter) rs1553170035
NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys) rs1553170038
NM_000098.3(CPT2):c.302del (p.Ala101fs) rs1553169106
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.401_404del (p.Phe134fs) rs1553169598
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) rs1057517510
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.725del (p.His242fs) rs1553169666
NM_000098.3(CPT2):c.72_97del (p.Leu25fs) rs1553168850
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.879_880del (p.Ser293fs) rs1195259425
NM_000098.3(CPT2):c.95del (p.Gly32fs) rs1057517494
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs) rs1553201476
NM_000110.4(DPYD):c.1070G>A (p.Arg357His) rs377143350
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.1121del (p.Pro374fs) rs1553201443
NM_000110.4(DPYD):c.1178del (p.Pro393fs) rs1553197926
NM_000110.4(DPYD):c.1311del (p.Phe438fs) rs1057517189
NM_000110.4(DPYD):c.1316del (p.Gly439fs) rs1057516761
NM_000110.4(DPYD):c.1339+1G>T rs1057516357
NM_000110.4(DPYD):c.1340-2A>G rs1057516713
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.4(DPYD):c.150+2T>A rs1057516405
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer) rs1057516615
NM_000110.4(DPYD):c.1524+1G>A rs1057517126
NM_000110.4(DPYD):c.1671del (p.Ser558fs) rs1057517018
NM_000110.4(DPYD):c.1727del (p.Phe576fs) rs764584080
NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter) rs1057516671
NM_000110.4(DPYD):c.1970del (p.Ser657fs) rs1057516710
NM_000110.4(DPYD):c.2003del (p.Asn668fs) rs1057517055
NM_000110.4(DPYD):c.2039dup (p.Met680fs) rs1057517396
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2058+1G>C rs769167857
NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly) rs1553251908
NM_000110.4(DPYD):c.2177_2179+1del rs1553251903
NM_000110.4(DPYD):c.2178del (p.Gly727fs) rs1553251907
NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs) rs1057516828
NM_000110.4(DPYD):c.232A>T (p.Arg78Ter) rs776692894
NM_000110.4(DPYD):c.233+1G>T rs1553247675
NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs) rs1057516510
NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter) rs1057517271
NM_000110.4(DPYD):c.2589dup (p.Pro864fs) rs1057517327
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter) rs1057516873
NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter) rs1553212596
NM_000110.4(DPYD):c.2748del (p.Arg916fs) rs1057517230
NM_000110.4(DPYD):c.2754del (p.Pro919fs) rs1057516894
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala) rs748639205
NM_000110.4(DPYD):c.2908-1G>A rs1553209268
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs) rs1459699844
NM_000110.4(DPYD):c.322-1G>C rs1057516356
NM_000110.4(DPYD):c.45C>A (p.Ile15=) rs267598790
NM_000110.4(DPYD):c.523del (p.Ser175fs) rs1057516997
NM_000110.4(DPYD):c.762+2T>C rs1057517065
NM_000110.4(DPYD):c.851-1G>C rs1057516696
NM_000110.4(DPYD):c.910del (p.Tyr304fs) rs1057516711
NM_000112.4(SLC26A2):c.1023AGC[3] (p.Ala343dup) rs1554095304
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1596del (p.Val533fs) rs1554095356
NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs) rs769657401
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.1859del (p.Lys620fs) rs1554095381
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.4(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.4(SLC26A2):c.1956_1957dup (p.Cys653fs) rs1554095395
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs) rs1057517513
NM_000112.4(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter) rs761932822
NM_000112.4(SLC26A2):c.2121_2123del (p.Leu708del) rs1554095431
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.4(SLC26A2):c.247GCCAAA[1] (p.83AK[1]) rs1554095123
NM_000112.4(SLC26A2):c.325_326del (p.Leu109fs) rs1554095125
NM_000112.4(SLC26A2):c.326_331dup (p.Gly110_Asp111insValGly) rs1554095126
NM_000112.4(SLC26A2):c.387T>G (p.Tyr129Ter) rs1554095137
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile) rs1554095084
NM_000112.4(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.499del (p.Val167fs) rs1554095145
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000112.4(SLC26A2):c.611T>G (p.Leu204Ter) rs1554095156
NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs) rs1554095097
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs) rs1554095167
NM_000112.4(SLC26A2):c.699+2T>C rs1057517461
NM_000112.4(SLC26A2):c.700-2A>G rs1554095266
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.870del (p.Thr289_Trp290insTer) rs1225601391
NM_000112.4(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.4(SLC26A2):c.922del (p.Ser308fs) rs1057517495
NM_000112.4(SLC26A2):c.925del (p.Leu309fs) rs1554095296
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln) rs772545860
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg) rs1435512927
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000128.4(F11):c.1028+1G>A rs1316806485
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.4(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1304+25_1304+28del rs778294619
NM_000128.4(F11):c.1305-1G>A rs1057517204
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.4(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) rs1554083736
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.4(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.4(F11):c.1480+2T>C rs1554083758
NM_000128.4(F11):c.1481-1G>C rs1057516506
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.4(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.4(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.4(F11):c.218+1G>A rs1057516738
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.4(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.4(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.4(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.55+6delinsGAG rs1554081299
NM_000128.4(F11):c.596-7_600del rs1057517116
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.4(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000128.4(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000128.4(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.4(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
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.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
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.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
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.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
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.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-1G>T rs1057516917
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.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1063-2A>G rs1555442385
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1156G>C (p.Asp386His) rs1555442402
NM_000137.4(FAH):c.1181-1G>A rs1057516333
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.4(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.4(FAH):c.193-2A>G rs1555440522
NM_000137.4(FAH):c.298_300del (p.Thr100del) rs1555440545
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000137.4(FAH):c.315-2A>G rs1555440603
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.4(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.4(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.780_781del (p.Pro261fs) rs1057517436
NM_000137.4(FAH):c.81+2T>C rs772895065
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.835del (p.Gln279fs) rs1555441703
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.4(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_000137.4(FAH):c.961-2A>C rs1555442289
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000153.2(GALC):c.-218G>C rs1555384433
NM_000153.2(GALC):c.-219dup rs1555384436
NM_000153.2(GALC):c.-234delGinsTTCC rs1555384440
NM_000153.2(GALC):c.-257dup rs1555384444
NM_000153.2(GALC):c.-285dup rs1482465546
NM_000153.2(GALC):c.-296dup rs1555384458
NM_000153.2(GALC):c.-317delG rs1555384465
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) rs1555384335
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.190_195+9del rs1057517187
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.195+1G>C rs1009872980
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_000154.2(GALK1):c.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000155.3(GALT):c.-130_-129insCAGT rs111033640
NM_000155.3(GALT):c.-96T>G rs1554709099
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.572C>A (p.Ala191Asp) rs794727838
NM_000155.4(GALT):c.616C>T (p.Gln206Ter) rs1554709366
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) rs111033791
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) rs77369218
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000159.4(GCDH):c.*182AGA[1] rs1555752085
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter) rs1555751089
NM_000159.4(GCDH):c.1082+1G>T rs1555751109
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1244-2A>G rs199999619
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) rs1555751995
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) rs1197426645
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) rs748185335
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) rs768836114
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del) rs1555749893
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly) rs372429120
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) rs1230368107
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.427G>A (p.Val143Ile) rs1555749918
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.505+1_505+8del rs1057516855
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.636-2dup rs762345287
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) rs1555750542
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) rs1057516899
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) rs1555750580
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser) rs1555750589
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del) rs768065370
NM_000159.4(GCDH):c.798G>A (p.Met266Ile) rs1555750632
NM_000159.4(GCDH):c.79del (p.Ala27fs) rs1057516939
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) rs1057516522
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.873del (p.Asn291fs) rs1057517407
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000169.3(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.3(GLA):c.999+2T>C rs886044860
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.3(GLDC):c.1580+2T>G rs1554646710
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del) rs1554652789
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys) rs1554643929
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2458-1G>T rs1554643370
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.3(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del) rs1553408197
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr) rs754231971
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs) rs1553408245
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys) rs876659674
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del) rs993163672
NM_000179.3(MSH6):c.1560T>C (p.Gly520=) rs762396230
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1763A>G (p.His588Arg) rs786202725
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile) rs587779918
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg) rs587779919
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg) rs786201676
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr) rs587779920
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.215_258del (p.Leu72fs) rs1553408380
NM_000179.3(MSH6):c.2187C>T (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2194C>A (p.Arg732=) rs63751127
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) rs786204071
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met) rs556339046
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys) rs587779233
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg) rs863224624
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del) rs1553408448
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.260+15del rs1553408495
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer) rs63751408
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu) rs587781673
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-12C>T rs1057517629
NM_000179.3(MSH6):c.3173-18T>C rs189672273
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr) rs730881803
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala) rs756108143
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=) rs370226185
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr) rs876659549
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3556+32_3556+35del rs780754745
NM_000179.3(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr) rs869312799
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met) rs864622748
NM_000179.3(MSH6):c.3647-11dup rs774223571
NM_000179.3(MSH6):c.3647-6T>C rs182871847
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=) rs786202051
NM_000179.3(MSH6):c.3802-8T>G rs864622195
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val) rs587779293
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn) rs864622400
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr) rs41294988
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup) rs1553333670
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-11_4002-10delinsA rs1553333946
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=) rs765313977
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser) rs587781817
NM_000179.3(MSH6):c.55del (p.Asp19fs) rs1553408127
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly) rs587781777
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys) rs587779947
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg) rs142949377
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1202del (p.Gln401fs) rs1057517087
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.1221-1G>C rs1057516233
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer) rs1057516734
NM_000182.5(HADHA):c.1479+1G>T rs1290945516
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del) rs1553312059
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis) rs796051971
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter) rs1553311804
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2026del (p.Arg676fs) rs1553311716
NM_000182.5(HADHA):c.2059del (p.Met687fs) rs1553311706
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) rs1057517132
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly) rs1553311698
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2146+2T>C rs1057516350
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter) rs142120825
NM_000182.5(HADHA):c.2222del (p.Gly741fs) rs1553311647
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) rs1553311645
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.453+1G>A rs1057516417
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.800-1_801del rs1553314023
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) rs1057517081
NM_000187.4(HGD):c.1064dup (p.Gly356fs) rs1057516847
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg) rs765219004
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn) rs765912447
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.1188+1G>T rs760206323
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) rs767159114
NM_000187.4(HGD):c.15+1G>A rs552207335
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.177-1G>A rs1057517370
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) rs1057516362
NM_000187.4(HGD):c.339_342+2del rs1057516662
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.346del (p.Leu116fs) rs1057516911
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.376_377del (p.Lys126fs) rs1057516976
NM_000187.4(HGD):c.390del (p.Ala132fs) rs1057516352
NM_000187.4(HGD):c.3G>C (p.Met1Ile) rs1057516355
NM_000187.4(HGD):c.409del (p.Leu137fs) rs1057516921
NM_000187.4(HGD):c.455G>C (p.Gly152Ala) rs1553717936
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.559C>G (p.Arg187Gly) rs756255206
NM_000187.4(HGD):c.58del (p.Arg20fs) rs1057516849
NM_000187.4(HGD):c.649+2T>C rs1057516307
NM_000187.4(HGD):c.652del rs786204662
NM_000187.4(HGD):c.781dup (p.Ser261fs) rs1057517418
NM_000187.4(HGD):c.879+1G>A rs1553716979
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.956del (p.Pro319fs) rs1057517089
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1524+1G>T rs1553917483
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1650+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla) rs1553914754
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) rs759412123
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) rs1555746537
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) rs1443010160
NM_000227.6(LAMA3):c.2T>C (p.Met1Thr) rs1555720521
NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter) rs900100444
NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter) rs1057516512
NM_000228.2(LAMB3):c.2138_2140delGAG rs1553276448
NM_000228.3(LAMB3):c.1007del (p.Gln336fs) rs1057517395
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter) rs1057516316
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs) rs1057517290
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer) rs1553277686
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
NM_000228.3(LAMB3):c.1283_1288+14del rs1553277432
NM_000228.3(LAMB3):c.1288+1G>A rs1186161867
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup) rs1553277238
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.183+2T>C rs1553281291
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) rs1553276516
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) rs1553276488
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter) rs1057517207
NM_000228.3(LAMB3):c.2182del (p.Ala728fs) rs1553276430
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.2358+2T>C rs1057516838
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) rs1375506940
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs) rs1553276268
NM_000228.3(LAMB3):c.2516del (p.Leu839fs) rs1553276216
NM_000228.3(LAMB3):c.2556+1G>A rs1178041263
NM_000228.3(LAMB3):c.2701+1G>A rs1553276110
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del) rs745574977
NM_000228.3(LAMB3):c.29-2A>G rs371267954
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) rs777292177
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) rs1057516756
NM_000228.3(LAMB3):c.3052-1G>A rs774472247
NM_000228.3(LAMB3):c.308del (p.Pro103fs) rs1553279073
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs) rs1553275219
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?) rs1057516400
NM_000228.3(LAMB3):c.372+1G>C rs1553279044
NM_000228.3(LAMB3):c.372+2T>G rs1057516675
NM_000228.3(LAMB3):c.373-2A>G rs1057517258
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter) rs1057516399
NM_000228.3(LAMB3):c.561del (p.Lys188fs) rs1057516947
NM_000228.3(LAMB3):c.565-1G>T rs1057516693
NM_000228.3(LAMB3):c.565-2A>C rs370148688
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.822+2dup rs1553278151
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter) rs1057516809
NM_000228.3(LAMB3):c.920del (p.Gly307fs) rs1057516249
NM_000228.3(LAMB3):c.943+2T>A rs1464038626
NM_000231.2(SGCG):c.[800G>C;801T>C]
NM_000231.3(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter) rs1555234810
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.298-2A>C rs1555240119
NM_000231.3(SGCG):c.385+2T>A rs200206447
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.3(SGCG):c.702+1G>A rs1555248000
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) rs1555248287
NM_000231.3(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000232.5(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) rs1553940680
NM_000232.5(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.5(SGCB):c.243+1G>T rs1553940663
NM_000232.5(SGCB):c.243+2T>G rs1553940661
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.33+1G>A rs1553940957
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.5(SGCB):c.857del (p.Lys286fs) rs1553939681
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428
NM_000235.4(LIPA):c.111+2T>G rs1554869292
NM_000235.4(LIPA):c.1A>G (p.Met1Val) rs767039444
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.428+1G>A rs1554866004
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.676-2A>G rs747508159
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.883C>T (p.His295Tyr) rs1554865214
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.894+2T>C rs1554865199
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter) rs1554864404
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys) rs763847201
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1039-4A>G rs368618417
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.4(MLH1):c.1210C>T (p.Leu404=) rs1057517538
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.4(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.4(MLH1):c.1410-8C>T rs1057521668
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser) rs587780679
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.18G>A (p.Gly6=) rs786202312
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys) rs267607886
NM_000249.4(MLH1):c.2088C>G (p.Thr696=) rs1060504015
NM_000249.4(MLH1):c.2104-22T>C rs267607890
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly) rs138584384
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.307-10T>C rs572853043
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.589-24T>C rs1057517607
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.589-6T>G rs781244266
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+7C>T rs556224377
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.705T>C (p.Asp235=) rs876658869
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.790+17dup rs757064565
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.885-8C>T rs762836160
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.2(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser) rs63751062
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1076+23C>G rs377417056
NM_000251.3(MSH2):c.108T>C (p.Leu36=) rs876659034
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.3(MSH2):c.1276+10G>A rs374061707
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile) rs1553361185
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys) rs876658187
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly) rs876658582
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu) rs587778523
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1661+17T>G rs377461923
NM_000251.3(MSH2):c.1661+25del rs1553366691
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1759+16C>G rs1057517573
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala) rs376044376
NM_000251.3(MSH2):c.1828C>A (p.His610Asn) rs267607980
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.1884A>T (p.Gly628=) rs786202663
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2139G>T (p.Gly713=) rs63750003
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr) rs63750368
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.2458+12T>C rs1553369841
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys) rs587779150
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met) rs587779155
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys) rs63751173
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.3(MSH2):c.366+25C>T rs764158568
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg) rs767371843
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.672C>G (p.Ile224Met) rs587779171
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly) rs587779978
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe) rs63750732
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr) rs753237286
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) rs1554158377
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1327-1G>A rs1057516813
NM_000271.5(NPC1):c.1327-1G>C rs1057516813
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1761del (p.Phe587fs) rs1057517197
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1947+1G>A rs1555634690
NM_000271.5(NPC1):c.1947+2T>A rs764472245
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000271.5(NPC1):c.1948-2A>T rs1555634513
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2131-2_2131del rs1555634236
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.27CCT[2] (p.Leu15del) rs1555645598
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) rs761910746
NM_000271.5(NPC1):c.2911+1del rs1555633118
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2del rs797044431
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs) rs1057516647
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) rs1555631957
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3562del (p.Glu1188fs) rs758231839
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3592-1G>C rs1555631653
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) rs1555631642
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) rs1555631610
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3754+1G>A rs1555631571
NM_000271.5(NPC1):c.3754+1G>C rs1555631571
NM_000271.5(NPC1):c.3754+1G>T rs1555631571
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.397del (p.Val133fs) rs1057517186
NM_000271.5(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs) rs1555641027
NM_000271.5(NPC1):c.425_428del (p.Lys142fs) rs770580241
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.58-2A>T rs1555642347
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) rs1057516260
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) rs1555637509
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.199+11_199+16dup rs201396618
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1180del (p.Asp394fs) rs1555203666
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1209del (p.Ala404fs) rs1555203401
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) rs1555203363
NM_000277.3(PAH):c.1298dup (p.Leu433fs) rs1057516377
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+1G>T rs5030861
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.689T>C (p.Val230Ala) rs199475673
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.790del (p.His264fs) rs1057517009
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.130+1G>C rs267608253
NM_000288.4(PEX7):c.130+32_130+51del rs1554328334
NM_000288.4(PEX7):c.131-2A>G rs1554328790
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.189-2A>G rs1554328952
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.31_56del (p.Met11fs) rs1057516961
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) rs769137963
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.527-2A>G rs1057517339
NM_000288.4(PEX7):c.545dup (p.Trp183fs) rs1057516574
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) rs1057516882
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) rs1057516824
NM_000288.4(PEX7):c.806dup (p.Trp270fs) rs1464766327
NM_000288.4(PEX7):c.817del (p.Ser273fs) rs1554335926
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) rs1057516737
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) rs1554335937
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) rs1057516929
NM_000295.5(SERPINA1):c.1066-1G>T rs1555367897
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) rs763023697
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) rs762321137
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) rs1057516555
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) rs370038282
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) rs1057516448
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile) rs864622044
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) rs1057517110
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_000310.4(PPT1):c.*521_*532dup rs1553166026
NM_000310.4(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.4(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.4(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.4(PPT1):c.124+2T>A rs1057517368
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.4(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.4(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.281_282del (p.Thr94fs) rs1553167479
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.4(PPT1):c.338del (p.Gly113fs) rs1553167474
NM_000310.4(PPT1):c.362+1G>A rs1057517401
NM_000310.4(PPT1):c.363-2A>G rs1553167430
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.433+1G>A rs1553167415
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.627+1G>T rs1265044710
NM_000310.4(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.4(PPT1):c.798+1G>T rs878853929
NM_000310.4(PPT1):c.798+2T>C rs1553166337
NM_000310.4(PPT1):c.799-2A>G rs1553166147
NM_000310.4(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.227_228del (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.326A>G (p.Asn109Ser) rs1361000720
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.402A>C (p.Glu134Asp) rs746993982
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) rs1057516744
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.673T>C (p.Ter225Arg) rs1057517433
NM_000337.5(SGCD):c.-139dup rs1554093270
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.-44+1G>C rs959438136
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.-44+2T>G rs1300537737
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.3+1G>A rs777787493
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.383-33_383-13del rs1554119747
NM_000337.6(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.6(SGCD):c.383-47CTCTCTC[4] rs780744816
NM_000337.6(SGCD):c.618del (p.Gly207fs) rs1554137109
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.699+1G>T rs1554137130
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter) rs397517923
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.6(SGCD):c.775_777del (p.Lys259del) rs1207864818
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.298_299del (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000352.6(ABCC8):c.1012-2A>G rs1554938866
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1467+1G>T rs1554933415
NM_000352.6(ABCC8):c.1467+2T>C rs1057517128
NM_000352.6(ABCC8):c.1468-2A>C rs1057516946
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1817+1G>T rs1554926476
NM_000352.6(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2041-1G>A rs1554924630
NM_000352.6(ABCC8):c.2041-25G>A rs1554924660
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2116+1G>A rs1554924540
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2222+1G>T rs1554923999
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2694+1G>C rs774574576
NM_000352.6(ABCC8):c.2694+3G>A rs1554914779
NM_000352.6(ABCC8):c.2694+4A>T rs1554914771
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3557+1del rs1554910616
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3650+2T>A rs1057517274
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-2A>G rs1554906450
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4120-1G>T rs1057517406
NM_000352.6(ABCC8):c.413-2A>G rs1057517015
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-2A>G rs1554904136
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.6(ABCC8):c.4545+2T>G rs1554904006
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000353.3(TAT):c.1041+2T>C rs113758103
NM_000353.3(TAT):c.1047del (p.Asn349fs) rs1555537673
NM_000353.3(TAT):c.1125+1G>T rs1555537662
NM_000353.3(TAT):c.1224G>A (p.Thr408=) rs756743947
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln) rs1018491678
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs) rs1555538156
NM_000353.3(TAT):c.1A>G (p.Met1Val) rs1426882225
NM_000353.3(TAT):c.226dup (p.Leu76fs) rs746077579
NM_000353.3(TAT):c.340+2T>C rs1555538138
NM_000353.3(TAT):c.568-2A>G rs1555537871
NM_000353.3(TAT):c.707-1G>A rs1555537814
NM_000353.3(TAT):c.906_912+12del rs1555537741
NM_000359.3(TGM1):c.-2-1G>A rs776068111
NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs) rs1555306172
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1159+1G>A rs1220151696
NM_000359.3(TGM1):c.1159+1G>T rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro) rs1555306116
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1226_1227del (p.Thr409fs) rs1555306113
NM_000359.3(TGM1):c.1261A>G (p.Met421Val) rs752670603
NM_000359.3(TGM1):c.1289A>T (p.Asp430Val) rs1555306103
NM_000359.3(TGM1):c.1298+2T>C rs1555306102
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter) rs1555306089
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.3(TGM1):c.1570G>A (p.Gly524Ser) rs765914927
NM_000359.3(TGM1):c.159C>A (p.Cys53Ter) rs201432046
NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter) rs1555305836
NM_000359.3(TGM1):c.1849_1850del (p.Val618fs) rs1555305783
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.2381dup (p.Phe795fs) rs949960795
NM_000359.3(TGM1):c.2417_2419del (p.Gly806del) rs1439726634
NM_000359.3(TGM1):c.320-1G>T rs1156392436
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.78GCCAGA[2] (p.26EP[2]) rs762513810
NM_000359.3(TGM1):c.78GCCAGA[5] (p.26EP[5]) rs762513810
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.95_96insGCCTGA (p.26_27EP[4]) rs1555306576
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1104+1G>A rs1057516819
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) rs1554922441
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1282del (p.Gln428fs) rs1554922434
NM_000360.4(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.487+1G>A rs1554923513
NM_000360.4(TH):c.487+1G>C rs1554923513
NM_000360.4(TH):c.487+2T>C rs1057517003
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.644+2T>A rs1554923317
NM_000360.4(TH):c.644_644+15del rs1554923305
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.717del (p.Lys240fs) rs1057516712
NM_000360.4(TH):c.845dup (p.Thr283fs) rs1554923004
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+26G>A rs191356744
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.91-9_107del rs1057516874
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.921del (p.Phe308fs) rs1057516491
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.997del (p.Leu333fs) rs1057517162
NM_000370.3(TTPA):c.-1C>T rs1349901379
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) rs1008240677
NM_000370.3(TTPA):c.1A>T (p.Met1Leu) rs1408863841
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) rs1554524054
NM_000370.3(TTPA):c.2T>A (p.Met1Lys) rs786204758
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) rs1057516423
NM_000370.3(TTPA):c.441del (p.Glu148fs) rs1057517448
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.552G>T (p.Thr184=) rs181109321
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) rs1554605498
NM_000370.3(TTPA):c.663+10_663+11insAC rs757003890
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) rs1554605276
NM_000370.3(TTPA):c.83_105del (p.Leu28fs) rs1554525128
NM_000370.3(TTPA):c.88_118del (p.Ala30fs) rs1554525125
NM_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del) rs1554703183
NM_000380.4(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
NM_000380.4(XPA):c.172+1G>A rs1554703119
NM_000380.4(XPA):c.172+1G>T rs1554703119
NM_000380.4(XPA):c.197del (p.Pro66fs) rs1554702629
NM_000380.4(XPA):c.235G>T (p.Glu79Ter) rs1554702608
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del) rs1554702607
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del) rs3176652
NM_000380.4(XPA):c.283+1_283+6del rs1554702597
NM_000380.4(XPA):c.2T>C (p.Met1Thr) rs1253496792
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.344_346del (p.Ser115del) rs1554701942
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.4(XPA):c.391del (p.Asp131fs) rs1554701563
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del) rs1554701553
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000380.4(XPA):c.439_441del (p.Glu147del) rs1554701535
NM_000380.4(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer) rs1240801740
NM_000380.4(XPA):c.472dup (p.Arg158fs) rs1554701520
NM_000380.4(XPA):c.476_477del (p.Glu159fs) rs781195170
NM_000380.4(XPA):c.532dup (p.Met178fs) rs1326841833
NM_000380.4(XPA):c.548del (p.Lys183fs) rs1554701488
NM_000380.4(XPA):c.555+1G>A rs1554701481
NM_000380.4(XPA):c.555+2T>A rs1554701478
NM_000380.4(XPA):c.563del (p.Lys188fs) rs1554701152
NM_000380.4(XPA):c.572_573del (p.Leu191fs) rs1554701144
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup) rs1554701135
NM_000380.4(XPA):c.599T>G (p.Leu200Ter) rs755803064
NM_000380.4(XPA):c.601_602del (p.Glu201fs) rs1554701139
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.631dup (p.Arg211fs) rs1554701129
NM_000380.4(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.4(XPA):c.673+2T>C rs1019535182
NM_000380.4(XPA):c.677T>A (p.Leu226Ter) rs1554699334
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) rs1554699326
NM_000380.4(XPA):c.732dup (p.Glu245Ter) rs1554699296
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del) rs758358436
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.4(XPA):c.817dup (p.Met273fs) rs754458042
NM_000382.2(ALDH3A2):c.154_155delAG rs1428029642
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>C rs1036733598
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1443+1222del
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs) rs1057517403
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer) rs2152326510
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter) rs2152325575
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1del rs757359379
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs) rs1057516788
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del) rs746747637
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del) rs1481102287
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1A>G (p.Met1Val) rs1057516265
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del) rs750595350
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del) rs1553197476
NM_000396.4(CTSK):c.243+1G>A rs1057517263
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.399+2del rs1057516839
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.400-1G>C rs1553197262
NM_000396.4(CTSK):c.423_450del (p.Phe142fs) rs1057516627
NM_000396.4(CTSK):c.426del (p.Phe142fs) rs1057516514
NM_000396.4(CTSK):c.48del (p.Tyr17fs) rs1057516790
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) rs1553197239
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.618+1G>A rs1553197230
NM_000396.4(CTSK):c.648del (p.Lys217fs) rs1057516891
NM_000396.4(CTSK):c.669del (p.Tyr224fs) rs1553196945
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly) rs770343722
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) rs1553196900
NM_000396.4(CTSK):c.891-21_892dup rs1553196764
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
NM_000404.4(GLB1):c.2011del (p.Asp671fs) rs1553604655
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg) rs1553604645
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys) rs1553604644
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000414.4(HSD17B4):c.113-1G>T rs1224475289
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter) rs1057516735
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1334-2A>T rs1554066421
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs) rs1057516859
NM_000414.4(HSD17B4):c.1504-2A>C rs1554068134
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val) rs1554068261
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu) rs1554068269
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del) rs1554062119
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs) rs1057516312
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs) rs1057517152
NM_000414.4(HSD17B4):c.1993+2T>G rs1554068960
NM_000414.4(HSD17B4):c.1994-2A>G rs1554069592
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2121+1G>C rs1554069610
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter) rs1554070146
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.220+2T>C rs1231357043
NM_000414.4(HSD17B4):c.221-1G>C rs1554062168
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.349+1G>T rs1057516958
NM_000414.4(HSD17B4):c.435-2A>T rs1171426785
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr) rs1554062814
NM_000414.4(HSD17B4):c.56_58+3del rs1554059509
NM_000414.4(HSD17B4):c.58+127_58+129del rs1394106982
NM_000414.4(HSD17B4):c.58+189G>C rs1554059562
NM_000414.4(HSD17B4):c.58+189del rs1554059560
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs) rs1057516310
NM_000414.4(HSD17B4):c.623-1G>A rs1554064083
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe) rs1554064092
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs) rs1057516750
NM_000414.4(HSD17B4):c.739+2dup rs1554064396
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter) rs1057516269
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.973-2A>C rs1057517118
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) rs1338860420
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser) rs1554234086
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del) rs1554234118
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del) rs775570308
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del) rs753417521
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup) rs1347823295
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2450+5_2450+8del rs1554260313
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.30_32del (p.Leu13del) rs1278217420
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3736-2A>G rs372715292
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) rs750220830
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle) rs1554270059
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu) rs727502850
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.4436+1G>C rs376430565
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del) rs1554277753
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys) rs751053800
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser) rs1409043489
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) rs1554278670
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del) rs1554281282
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del) rs1192484658
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) rs1554286963
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del) rs1554286976
NM_000426.4(LAMA2):c.5235-18G>A rs188365084
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del) rs1225610123
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del) rs767066183
NM_000426.4(LAMA2):c.5865+2T>G rs1554290316
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5866-2A>G rs1554295204
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) rs1554295259
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr) rs1204310516
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) rs758495000
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.6269-831C>T rs371162111
NM_000426.4(LAMA2):c.6269-845C>T rs1554297888
NM_000426.4(LAMA2):c.6269-848T>A rs1554297884
NM_000426.4(LAMA2):c.6269-848T>C rs1554297884
NM_000426.4(LAMA2):c.6269-849C>T rs1554297881
NM_000426.4(LAMA2):c.6269-852A>C rs766496312
NM_000426.4(LAMA2):c.6269-855A>C rs1554297879
NM_000426.4(LAMA2):c.6269-855A>G rs1554297879
NM_000426.4(LAMA2):c.6429+1G>C rs1262029350
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.6573+1G>T rs757435241
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del) rs1350705904
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) rs886038295
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) rs762065775
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) rs1554310242
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.819+1G>A rs1554226186
NM_000426.4(LAMA2):c.819+2dup rs765817742
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro) rs1554316199
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup) rs1554317110
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr) rs1554317120
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del) rs1554317173
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup) rs1437850233
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs) rs1554320205
NM_000426.4(LAMA2):c.9211+1G>A rs1554320318
NM_000426.4(LAMA2):c.9212-2A>G rs1554321125
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) rs1554321180
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) rs1057517042
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) rs1057516354
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1342-1G>T rs1057517298
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1438-7del rs753586849
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.1539_1544+6del rs1057516535
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1544+9C>G rs368970459
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>A rs397516420
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-2A>G rs786204458
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) rs786204502
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) rs1057517161
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1966del (p.His656fs) rs1057516636
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) rs1554361584
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) rs1057516796
NM_000441.2(SLC26A4):c.2089+2T>A rs1554361624
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) rs147733656
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del) rs1554362748
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) rs1387758666
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) rs1554363275
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) rs1554363304
NM_000441.2(SLC26A4):c.2320-1G>A rs1554363892
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) rs532132864
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) rs1554354367
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) rs1554354370
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) rs751256128
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) rs1554354382
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.415+5_415+10del rs766751379
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.454del (p.Val152fs) rs1554354801
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) rs1554352212
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) rs1434359940
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.765+4A>C rs774353111
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) rs1057517246
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln) rs867212046
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.919-19_932del rs1554357206
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) rs368466538
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys) rs864622448
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del) rs587782439
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly) rs587782687
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+21_290+26dup rs1555735086
NM_000455.5(STK11):c.374+2T>C rs1555737480
NM_000455.5(STK11):c.375-5C>T rs1057517626
NM_000455.5(STK11):c.397G>A (p.Val133Met) rs567769257
NM_000455.5(STK11):c.464+20del rs730881960
NM_000455.5(STK11):c.464+3G>A rs1060499956
NM_000455.5(STK11):c.465-17GT[2] rs749644491
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.56C>T (p.Ser19Leu) rs1426026332
NM_000455.5(STK11):c.597+15G>T rs774187994
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.598-11C>T rs587782431
NM_000455.5(STK11):c.617C>T (p.Ala206Val) rs764244639
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) rs587780721
NM_000455.5(STK11):c.734+17C>A rs751929304
NM_000455.5(STK11):c.734+19dup rs730881962
NM_000455.5(STK11):c.735-19C>T rs1057517576
NM_000455.5(STK11):c.735-6_735-2del rs759090799
NM_000455.5(STK11):c.836_837delinsCT (p.Gly279Ala) rs1057517603
NM_000455.5(STK11):c.920+7G>A rs2075607
NM_000455.5(STK11):c.920+7_920+8delinsCA rs1057517545
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000455.5(STK11):c.980A>G (p.Asp327Gly) rs864622638
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala) rs1060501279
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn) rs1060501306
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu) rs730881417
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys) rs876660325
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup) rs763622701
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1811-16dup rs760333316
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) rs1350570988
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.215+20T>C rs200715720
NM_000465.4(BARD1):c.216-9A>T rs759575504
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg) rs878854008
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.364+16A>G rs201219625
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) rs1553414560
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1062G>C (p.Glu354Asp) rs1553414568
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.114del (p.Lys38fs) rs1057517321
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1181_1186del (p.Ser394_Ile395del) rs1553414630
NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) rs1553414843
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) rs1057516293
NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) rs1553415035
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) rs1553415041
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) rs1054159992
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) rs1057517173
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) rs1057517337
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) rs772638759
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) rs1553415164
NM_000478.6(ALPL):c.1575A>G (p.Ter525Trp) rs1553415176
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del) rs766831104
NM_000478.6(ALPL):c.174G>A (p.Leu58=) rs757176737
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) rs1553411920
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys) rs1045735640
NM_000478.6(ALPL):c.297+2T>A rs1057517304
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.392del (p.Ser131fs) rs1553412310
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro) rs121918011
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.427del (p.Gln143fs) rs760134827
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.497C>T (p.Thr166Ile) rs1176474582
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.61+2T>G rs764322898
NM_000478.6(ALPL):c.61G>A (p.Glu21Lys) rs1553410728
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu) rs1226800998
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.841del (p.His281fs) rs1057516526
NM_000478.6(ALPL):c.862+1G>A rs1553413512
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) rs1553411779
NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr) rs1553414079
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.903del (p.Asn302fs) rs768160006
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.997+2T>G rs1057517391
NM_000478.6(ALPL):c.997+3A>G rs1553414147
NM_000478.6(ALPL):c.998-2A>G rs1057516622
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1033+2dup rs976598152
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000487.6(ARSA):c.-15A>G rs909454884
NM_000487.6(ARSA):c.-35_-8del rs759081183
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup) rs1555901139
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+1G>T rs80338820
NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs) rs1555900191
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer) rs1555900150
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1388del (p.Leu463fs) rs1057517237
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del) rs774153480
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.185_186dup (p.Asp63fs) rs1227301119
NM_000487.6(ARSA):c.206_209del (p.Ser69fs) rs1555901112
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.224+1G>A rs1555901108
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs) rs1057516595
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.2T>C (p.Met1Thr) rs1555901170
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal) rs1555901024
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.465+2T>A rs1555900989
NM_000487.6(ARSA):c.466-2A>G rs1057517044
NM_000487.6(ARSA):c.494dup (p.Pro166fs) rs1057517346
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.674_675dup (p.Ala226fs) rs1057516373
NM_000487.6(ARSA):c.684+2dup rs1555900843
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.758dup (p.Met254fs) rs74315270
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.891del (p.Gly298fs) rs1057517073
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.925dup (p.Glu309fs) rs1555900623
NM_000487.6(ARSA):c.929del (p.Gly310fs) rs1057516638
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.980-2A>C rs769152137
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000492.3(CFTR):c.-495C>T rs397507565
NM_000492.3(CFTR):c.-600dup rs747238661
NM_000492.3(CFTR):c.-674T>C rs1554372953
NM_000492.3(CFTR):c.-893_-891del rs780557040
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.-8GA[4] rs1554373081
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1117-2A>G rs1554381596
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del) rs1554382616
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.4(CFTR):c.1584+4A>T rs953352440
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1585-9T>C rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1679+116G>T rs207468451
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly) rs1554376387
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-2dup rs1554389008
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680-885T>C rs1281580863
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.4(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1767-1G>A rs1554389241
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del) rs1554389478
NM_000492.4(CFTR):c.2429del (p.Arg810fs) rs1057516236
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.4(CFTR):c.2491-2A>C rs397508386
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu) rs774507425
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274-3T>C rs1554379763
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908+3A>C rs1554391091
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-4A>G rs397508457
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT rs1554391448
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.4(CFTR):c.2988+1G>C rs75096551
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr) rs397508491
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3139+1del rs780546355
NM_000492.4(CFTR):c.3140-1G>A rs397508506
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro) rs121909020
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly) rs1800114
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del) rs1554392295
NM_000492.4(CFTR):c.3367+3A>G rs1194763712
NM_000492.4(CFTR):c.3367+6A>G rs397508545
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr) rs397508568
NM_000492.4(CFTR):c.3468+1G>A rs1554392798
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3873+1G>T rs143570767
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-26dup rs1554396371
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+2T>G rs397508650
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs) rs1554379846
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.4(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) rs747078069
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter) rs121909043
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.490-26del rs781120531
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.4(CFTR):c.506dup (p.Ser169fs) rs1554380311
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.54-13C>G rs397508749
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1G>C rs1351058559
NM_000492.4(CFTR):c.870-5dup rs759762840
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr) rs1180803268
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp) rs397508818
NM_000492.4(CFTR):c.926C>T (p.Ala309Val) rs397508818
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) rs1554652650
NM_000497.4(CYP11B1):c.1398+2T>C rs577022490
NM_000497.4(CYP11B1):c.147del (p.Trp49fs) rs748867146
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_000497.4(CYP11B1):c.372del (p.His125fs) rs1554653520
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.395+1G>C rs1554653514
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998
NM_000497.4(CYP11B1):c.799+1G>C rs1554652990
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.955-15_955-1del rs1554652823
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000500.7:c.*28697405C>T
NM_000500.7:c.*28697972C>G
NM_000500.7:c.*28698024_*28698031del8
NM_000500.7:c.*28698317T>A
NM_000500.7:c.*28699001G>T
NM_000500.7:c.*28699080dupT
NM_000500.7:c.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1073+1G>T rs76173977
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter) rs1057516617
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) rs1555472440
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) rs1555472432
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs) rs1555475498
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+2T>C rs1555472262
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) rs1057516640
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter) rs1057516957
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.806-1G>C rs1057516908
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.977del (p.Phe326fs) rs756040251
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.118del (p.Ala40fs) rs1554034447
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.133del (p.Ala45fs) rs1554034449
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1520del (p.Ser507fs) rs1554037120
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+1G>A rs1554034505
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.56del (p.Leu19fs) rs1554034423
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.825del (p.Ile275fs) rs1554036523
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432
NM_000521.4(HEXB):c.902-1G>T rs1554036638
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.4(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1308_1309+2del rs1555708282
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro) rs1555706406
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000535.5(PMS2):c.-101A>G rs587779325
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000543.4:c.777_778ins8
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro) rs1299899778
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del) rs1554933847
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer) rs1057517390
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9]) rs1554933850
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1373del (p.Gly458fs) rs1554935273
NM_000543.5(SMPD1):c.1379del (p.Thr460fs) rs1554935285
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del) rs1382534368
NM_000543.5(SMPD1):c.1486+6_1486+9del rs1389809925
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) rs1554935439
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs) rs1057517200
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg) rs1554935555
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter) rs756031857
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter) rs1554935610
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu) rs149939736
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter) rs1057516722
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter) rs373940701
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg) rs1554935731
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe) rs138531908
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter) rs1057516931
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>A rs1225462507
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) rs1057517086
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer) rs1554934210
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs) rs1554934309
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg) rs1423504237
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter) rs1554934406
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del) rs1554934457
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup) rs1554934463
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs) rs1057517345
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000546.6(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.6(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.283TCT[1] (p.Ser96del) rs878854068
NM_000546.6(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.6(TP53):c.375+17G>A rs765179201
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.673-36G>C rs17880604
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.768A>G (p.Thr256=) rs786203563
NM_000546.6(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.6(TP53):c.783-13C>G rs1555525373
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.6(TP53):c.993+223T>G rs3021068
NM_000546.6(TP53):c.993+244G>A rs576532147
NM_000546.6(TP53):c.993+312_993+314del rs1555524872
NM_000546.6(TP53):c.993+326_993+341del rs730882013
NM_000551.4(VHL):c.*7C>G rs778005138
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.4(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000642.2(AGL):c.84delG rs1553183148
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1185+1G>A rs1057516948
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp) rs1553186447
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) rs1553183207
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del) rs766308910
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) rs1553187957
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) rs1553188647
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal) rs1553188824
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3363-1G>A rs1057516513
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3538del (p.Ser1180fs) rs1553190316
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3941_3949+12del rs1553192718
NM_000642.3(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) rs1057517405
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.4481+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000709.3(BCKDHA):c.111_122del12 rs751877248
NM_000709.4(BCKDHA):c.*223T>A rs373164531
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter) rs201168715
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup) rs756657259
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del) rs1555767305
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile) rs1555764014
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp) rs1555766625
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
NM_000709.4(BCKDHA):c.853+1G>T rs1555767028
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met) rs1253348004
NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter) rs1555767090
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs) rs772586292
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs) rs1481361626
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs) rs1555439287
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter) rs1420321324
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del) rs543667424
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) rs1206731716
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup) rs1468688261
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) rs538996447
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) rs1555439049
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) rs1555439061
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) rs1555439063
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) rs912110093
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11]) rs397507446
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs) rs1555439104
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7]) rs771492607
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9]) rs750330966
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) rs1555439118
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12]) rs1555439121
NM_001039958.2(MESP2):c.640_643del (p.Val214fs) rs1468383573
NM_001039958.2(MESP2):c.718del (p.Val240fs) rs756232049
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) rs1555439152
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del) rs1555439163
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs) rs1428605825
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs) rs757634059
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter) rs1555439250
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.125+1del rs1555469452
NM_001042432.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_001042432.2(CLN3):c.223-1G>A rs1555469089
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) rs1057517215
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.46+1G>A rs1057516343
NM_001042432.2(CLN3):c.46+1G>C rs1057516343
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.677+1G>T rs1057517287
NM_001042432.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) rs796052340
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.791-1G>A rs1057517350
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.962+1G>A rs1057516267
NM_001042432.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.2(CLN3):c.963-63_963-44dup rs1555468153
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) rs1553125766
NM_001048174.2(MUTYH):c.1193G>T (p.Arg398Leu) rs748700385
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) rs1553125100
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) rs767747402
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met) rs587781385
NM_001048174.2(MUTYH):c.1435-9T>C rs372815910
NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu) rs587780080
NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His) rs147923905
NM_001048174.2(MUTYH):c.194_199del (p.Val65_Thr66del) rs1553130269
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) rs1057517460
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.282C>T (p.Asp94=) rs876660505
NM_001048174.2(MUTYH):c.327G>A (p.Leu109=) rs1057517458
NM_001048174.2(MUTYH):c.38G>A (p.Arg13Lys) rs587782693
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) rs786204112
NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg) rs138833473
NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr) rs587778537
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.-181+1G>C rs574535599
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.106-2A>G rs1554748292
NM_001079802.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1173-1G>A rs557699482
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-2A>G rs1554766808
NM_001079802.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.780+1G>A rs370819786
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.-50+1G>A rs1553595158
NM_001079866.2(BCS1L):c.-50+1G>T rs1553595158
NM_001079866.2(BCS1L):c.-50+2T>G rs1553595166
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.1007+2_1007+5del rs1553597934
NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del) rs906812769
NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter) rs1553598145
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup) rs1553598193
NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs) rs1057516786
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.255_257del (p.Gln85del) rs1553596345
NM_001079866.2(BCS1L):c.291_293del (p.Val98del) rs1293818477
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.460+1G>A rs1553596761
NM_001079866.2(BCS1L):c.460+2T>C rs1057516954
NM_001079866.2(BCS1L):c.472del (p.Ala158fs) rs1553596929
NM_001079866.2(BCS1L):c.534del (p.Phe179fs) rs1553596996
NM_001079866.2(BCS1L):c.53del (p.Ala18fs) rs1553595997
NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del) rs1553597114
NM_001079866.2(BCS1L):c.655+1G>A rs1057516802
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.772del (p.Asp258fs) rs1363475546
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.889+1G>A rs1057516346
NM_001079866.2(BCS1L):c.889+2dup rs1553597661
NM_001079866.2(BCS1L):c.973dup (p.Arg325fs) rs1057516518
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
NM_001126049.2(KLLN):c.-887C>T rs786204920
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732
NM_001127511.3(APC):c.-14C>T rs1554060248
NM_001127511.3(APC):c.-5C>A rs972010514
NM_001127511.3(APC):c.124G>A (p.Gly42Ser) rs1057517582
NM_001127511.3(APC):c.134G>A (p.Arg45His) rs1004213568
NM_001127511.3(APC):c.165+17G>T rs1057517556
NM_001127511.3(APC):c.1A>T (p.Met1Leu) rs189807660
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter) rs200594402
NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter) rs1434668575
NM_001128227.2(GNE):c.-60_-59delAA rs751222162
NM_001128227.2(GNE):c.-97T>G rs757093701
NM_001128227.2(GNE):c.1376delG rs1057516705
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
NM_001128425.2(MUTYH):c.167G>T (p.Gly56Val) rs587781374
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4]) rs398123779
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) rs1553361783
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del) rs1173583014
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3957+2T>A rs1553377764
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) rs1553381945
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) rs765090357
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs) rs1553389065
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs) rs1553389118
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.461-1G>A rs1553520795
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del) rs1553501109
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del) rs1163037004
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) rs1553422723
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del) rs1553422765
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) rs768820090
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001134793.2(HYLS1):c.145_147del (p.Asp49del) rs1211996582
NM_001134793.2(HYLS1):c.167_169del (p.Val56del) rs774246149
NM_001134793.2(HYLS1):c.220_221del (p.Glu74fs) rs1555102458
NM_001134793.2(HYLS1):c.284_286dup (p.Lys95dup) rs1555102499
NM_001134793.2(HYLS1):c.459del (p.Lys153fs) rs1555102572
NM_001134793.2(HYLS1):c.536_544del (p.Ser179_Ala181del) rs1319206829
NM_001134793.2(HYLS1):c.73_78del (p.Thr25_Ala26del) rs1555102367
NM_001134793.2(HYLS1):c.851_859del (p.Ala284_Gly286del) rs1555102865
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del) rs771348153
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_001142571.2(RAD51D):c.-279_-275del rs761104531
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr) rs1554207076
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001164277.2(SLC37A4):c.*11G>A rs978301169
NM_001164277.2(SLC37A4):c.*12G>A rs1221264103
NM_001164277.2(SLC37A4):c.*1AG[2] rs782195068
NM_001164277.2(SLC37A4):c.*5A>G rs373050741
NM_001164277.2(SLC37A4):c.*5A>T rs373050741
NM_001164277.2(SLC37A4):c.-10C>G rs782655025
NM_001164277.2(SLC37A4):c.-13G>T rs1555191914
NM_001164277.2(SLC37A4):c.-15C>T rs1210959942
NM_001164277.2(SLC37A4):c.-16C>A rs1555191915
NM_001164277.2(SLC37A4):c.-16C>G rs1555191915
NM_001164277.2(SLC37A4):c.-2C>T rs1318999121
NM_001164277.2(SLC37A4):c.-498G>T rs1555192177
NM_001164277.2(SLC37A4):c.-504G>C rs1045560610
NM_001164277.2(SLC37A4):c.-506A>G rs1555192180
NM_001164277.2(SLC37A4):c.-528C>T rs1555192184
NM_001164277.2(SLC37A4):c.-535G>A rs138523194
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=) rs782726848
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys) rs1555190525
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=) rs1555190521
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met) rs1555190517
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr) rs1555190513
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val) rs782533083
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=) rs1555190509
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro) rs1210588522
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr) rs1342845276
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser) rs1555190504
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu) rs1555190480
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser) rs782182577
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=) rs1555191843
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1124+26C>T rs782811246
NM_001164277.2(SLC37A4):c.1124+34C>T rs1555190425
NM_001164277.2(SLC37A4):c.1124+36C>A rs547915912
NM_001164277.2(SLC37A4):c.1124+38C>G rs1184172656
NM_001164277.2(SLC37A4):c.1124+38C>T rs1184172656
NM_001164277.2(SLC37A4):c.1124+4A>G rs1555190440
NM_001164277.2(SLC37A4):c.1124+51T>C rs1555190420
NM_001164277.2(SLC37A4):c.1124+55G>A rs1555190418
NM_001164277.2(SLC37A4):c.1124+57C>T rs1555190417
NM_001164277.2(SLC37A4):c.1124+7G>A rs1555190438
NM_001164277.2(SLC37A4):c.1125-14T>C rs1555190405
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1125-6T>G rs782323567
NM_001164277.2(SLC37A4):c.1125-8C>T rs1555190404
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu) rs1555190400
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu) rs1555190399
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr) rs782603818
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg) rs1440498520
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=) rs1464199067
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu) rs1555190395
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=) rs1555190388
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met) rs1555190381
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln) rs1555190378
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser) rs781818280
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro) rs1555190359
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser) rs1555190347
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu) rs781849575
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu) rs1438944888
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala) rs781846380
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=) rs782137743
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val) rs1245752008
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly) rs1555191832
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.2(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.2(SLC37A4):c.149-21T>G rs1555191649
NM_001164277.2(SLC37A4):c.149-22C>T rs369353938
NM_001164277.2(SLC37A4):c.149-35del rs1555191655
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=) rs1555191904
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly) rs1555191637
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His) rs1555191626
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys) rs1555191604
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr) rs1555191603
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu) rs1191615872
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=) rs1555191590
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val) rs193302886
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile) rs1555191582
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr) rs782563826
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=) rs1555191568
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu) rs1555191568
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu) rs1555191550
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=) rs1555191533
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=) rs1555191522
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr) rs1555191517
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp) rs1555191510
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.381+4A>G rs1555191499
NM_001164277.2(SLC37A4):c.381+8C>T rs782284449
NM_001164277.2(SLC37A4):c.382-15C>T rs1555191417
NM_001164277.2(SLC37A4):c.382-19G>T rs1380601197
NM_001164277.2(SLC37A4):c.382-1del rs1555191406
NM_001164277.2(SLC37A4):c.382-3C>G rs1555191407
NM_001164277.2(SLC37A4):c.382-6C>T rs756248657
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg) rs1555191405
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly) rs1555191405
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys) rs1555191401
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala) rs1465764979
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu) rs1555191386
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln) rs1555191378
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly) rs1555191372
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu) rs1555191883
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro) rs1555191353
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=) rs1555191349
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr) rs1555191879
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=) rs775227522
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr) rs1555191907
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr) rs1397362093
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe) rs1555191258
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=) rs1300746467
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=) rs891986567
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=) rs1555191248
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp) rs1555191237
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe) rs1041686986
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys) rs567419206
NM_001164277.2(SLC37A4):c.626+10C>A rs757924969
NM_001164277.2(SLC37A4):c.626+11A>T rs747150144
NM_001164277.2(SLC37A4):c.626+16G>C rs74673344
NM_001164277.2(SLC37A4):c.626+30G>A rs1555191200
NM_001164277.2(SLC37A4):c.626+35C>G rs1555191199
NM_001164277.2(SLC37A4):c.626+4A>C rs770644132
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.626+7C>T rs1555191207
NM_001164277.2(SLC37A4):c.627-12T>C rs1555191134
NM_001164277.2(SLC37A4):c.627-16C>G rs1011663035
NM_001164277.2(SLC37A4):c.627-3C>T rs1349289897
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del) rs1555191121
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=) rs1555191117
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser) rs1555191101
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met) rs782167890
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=) rs925741468
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu) rs141105181
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=) rs1223570543
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile) rs1555191080
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala) rs1555191079
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser) rs1555191077
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu) rs782584884
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=) rs782584884
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys) rs1555191060
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg) rs1555191054
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=) rs1555191052
NM_001164277.2(SLC37A4):c.785+8G>A rs782075266
NM_001164277.2(SLC37A4):c.786-18_786-16del rs1555191005
NM_001164277.2(SLC37A4):c.786-20A>G rs1555191008
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val) rs1029013255
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile) rs1226267943
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val) rs1555190944
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val) rs1555190938
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=) rs1555190933
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn) rs1555190931
NM_001164277.2(SLC37A4):c.871+19C>T rs782487764
NM_001164277.2(SLC37A4):c.871+5G>A rs1250046397
NM_001164277.2(SLC37A4):c.871+6C>G rs377101167
NM_001164277.2(SLC37A4):c.872-10G>A rs1555190776
NM_001164277.2(SLC37A4):c.872-12C>T rs200279011
NM_001164277.2(SLC37A4):c.872-15_872-9dup rs782321213
NM_001164277.2(SLC37A4):c.872-17C>T rs1286218803
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg) rs1320796917
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met) rs1555190769
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=) rs1555190765
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser) rs1555190764
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His) rs763008231
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn) rs987244110
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser) rs1555190753
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=) rs1555190749
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=) rs1555190743
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr) rs1555190739
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr) rs1335122136
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr) rs1555191854
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met) rs1555190726
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile) rs1168556886
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu) rs1168556886
NM_001164277.2(SLC37A4):c.985+196del rs1555190657
NM_001164277.2(SLC37A4):c.985+206C>T rs1555190652
NM_001164277.2(SLC37A4):c.985+219T>C rs1555190648
NM_001164277.2(SLC37A4):c.985+234C>T rs1555190642
NM_001164277.2(SLC37A4):c.985+238dup rs1555190640
NM_001164277.2(SLC37A4):c.985+241C>G rs1555190639
NM_001164277.2(SLC37A4):c.985+244T>G rs1555190637
NM_001164277.2(SLC37A4):c.985+252C>G rs1173737788
NM_001164277.2(SLC37A4):c.985+259G>A rs1384684015
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT rs1555190633
NM_001164277.2(SLC37A4):c.985+278G>A rs781909226
NM_001164277.2(SLC37A4):c.985+286G>A rs1019246810
NM_001164277.2(SLC37A4):c.985+288T>G rs1555190624
NM_001164277.2(SLC37A4):c.985+3A>G rs782121210
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile) rs1555190563
NM_001164277.2(SLC37A4):c.986-14T>G rs863224211
NM_001164277.2(SLC37A4):c.986-3_989del rs1555190559
NM_001164277.2(SLC37A4):c.986-4del rs1555190566
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=) rs1555190553
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu) rs782443770
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu) rs1555191848
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del) rs1553698850
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del) rs773748212
NM_001164508.2(NEB):c.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001164508.2(NEB):c.11289+1G>C rs1553901249
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001164508.2(NEB):c.11602-2A>C rs1553891733
NM_001164508.2(NEB):c.11909_11910+4del rs1553886582
NM_001164508.2(NEB):c.1366-2A>G rs1553607505
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del rs1553603933
NM_001164508.2(NEB):c.1672_1674+2del rs1057516739
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001164508.2(NEB):c.18694-2del rs1553763404
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.19102-31_19102-30del rs774225336
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001164508.2(NEB):c.19207-1G>A rs1553755829
NM_001164508.2(NEB):c.19518GAA[1] (p.Lys6508del) rs1553736221
NM_001164508.2(NEB):c.19836+1G>T rs1446930968
NM_001164508.2(NEB):c.20157+2T>C rs1553717306
NM_001164508.2(NEB):c.20158-1G>C rs1553715579
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001164508.2(NEB):c.20467-1G>T rs760082702
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del) rs1553696713
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001164508.2(NEB):c.20788-1G>A rs1553695557
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001164508.2(NEB):c.2106+3A>C rs1553589058
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001164508.2(NEB):c.21312+1G>A rs1553682994
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del) rs758160111
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21946-2del rs1553647715
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=) rs267598918
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del) rs1553646403
NM_001164508.2(NEB):c.2211+1G>A rs1553586486
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2212-2A>G rs1553580540
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22273-36CT[5] rs751597547
NM_001164508.2(NEB):c.22273-6_22273-2dup rs758609054
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del) rs1553641943
NM_001164508.2(NEB):c.22374+13_22374+33dup rs1553641788
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del) rs1553629857
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.22905+2dup rs1553623381
NM_001164508.2(NEB):c.22906-6_22906-2del rs1014710501
NM_001164508.2(NEB):c.2310+2T>A rs1553579092
NM_001164508.2(NEB):c.23128-18del rs1553616477
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr) rs1553603652
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del) rs1553601408
NM_001164508.2(NEB):c.23638_23640del (p.His7880del) rs1553598770
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del) rs1553576655
NM_001164508.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup) rs764993333
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs) rs1057516938
NM_001164508.2(NEB):c.23929-1_23930dup rs1427250696
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.23929-7CA[2] rs1217738625
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del) rs1553711235
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup) rs1553568381
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.2415+2dup rs1553567814
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) rs1553548771
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter) rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter) rs1332061304
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup) rs942843328
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis) rs1372551649
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup) rs767474018
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del) rs1553544463
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter) rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.24883_24885del (p.His8295del) rs1553527955
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del) rs755822172
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del) rs1553520388
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del) rs1553519071
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.25405-1G>C rs1553508368
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter) rs1304300842
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter) rs1206080778
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr) rs1211056097
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter) rs776932788
NM_001164508.2(NEB):c.25544del (p.Gly8515fs) rs1205824305
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001164508.2(NEB):c.2944-1G>A rs1553542669
NM_001164508.2(NEB):c.295-1G>T rs111300270
NM_001164508.2(NEB):c.3147+1del rs1553539777
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla) rs1553539039
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3255+1del rs1553538835
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del) rs1553532187
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001164508.2(NEB):c.3774+2T>C rs1553531049
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del) rs1553522046
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3880-1G>T rs1057516381
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4300-2A>C rs1553512813
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4719+2T>C rs1553501889
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del) rs760256873
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.507+1G>A rs1553689057
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del) rs1553492424
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001164508.2(NEB):c.5344-1G>A rs1197561990
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5452-2A>G rs1057517317
NM_001164508.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001164508.2(NEB):c.6075+1G>A rs1553472127
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1del rs1553468960
NM_001164508.2(NEB):c.6183+2T>A rs1553468939
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001164508.2(NEB):c.6808-2A>T rs1553457607
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7227+2T>C rs1553448527
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001164508.2(NEB):c.7432-2A>G rs1553990438
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.823-2A>G rs1553642811
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del) rs1553642771
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del) rs764523437
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8994+2T>C rs1553962493
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001164508.2(NEB):c.927+1G>A rs374562457
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001164508.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg) rs1553934027
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001164508.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001177520.3(ALPL):c.66+353dup rs1553411890
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) rs558080743
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632
NM_001267547.3(ARFRP1):c.*1796A>G rs1555816562
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.1(NEB):c.7651_7656del6 rs1553983947
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del) rs1555811251
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met) rs1163455875
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met) rs768910485
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys) rs1555811919
NM_001283009.2(RTEL1):c.2265+2T>A rs1555811966
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2414-2A>G rs1555812178
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del) rs1555812456
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653-2A>C rs1555812834
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3344-2A>G rs980695424
NM_001283009.2(RTEL1):c.347A>G (p.His116Arg) rs746010778
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del) rs1258943409
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu) rs1555814729
NM_001283009.2(RTEL1):c.3786C>T (p.Phe1262=) rs1555814752
NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val) rs1555814876
NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr) rs1555814886
NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del) rs1555899638
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter) rs1161373315
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter) rs1555901000
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001321075.3(DLG4):c.-27C>T rs1555526472
NM_001330368.2(C11orf65):c.641-6751dup rs1555113505
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543
NM_001360.3(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.3(DHCR7):c.322-2A>G rs1555146618
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.413-1G>A rs1057517307
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.3(DHCR7):c.626+1G>C rs1471145742
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.3(DHCR7):c.934_935del (p.Val312fs) rs1469918162
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.3(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.3(DHCR7):c.963+1G>T rs1057516973
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.3(DHCR7):c.99-1G>C rs1451108193
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.3(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001365.5(DLG4):c.159+435_159+439del rs1178274476
NM_001365.5(DLG4):c.159+439_159+444dup rs1258394272
NM_001365.5(DLG4):c.159+465C>T rs1555526671
NM_001365.5(DLG4):c.159+472G>A rs1555526667
NM_001365.5(DLG4):c.159+487G>A rs1237915800
NM_001365.5(DLG4):c.159+489GCTTCT[3] rs1555526655
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del) rs1555379651
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.1650-1G>C rs1555378707
NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg) rs1555392885
NM_001365088.1(SLC12A6):c.2162+1G>A rs1555377971
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter) rs1057516271
NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs) rs1057516435
NM_001365088.1(SLC12A6):c.2437-2A>G rs1057516337
NM_001365088.1(SLC12A6):c.2632+1G>A rs1057516925
NM_001365088.1(SLC12A6):c.2633-1G>A rs1555377252
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.271+17732A>C rs781478530
NM_001365088.1(SLC12A6):c.271+17808T>G rs137998688
NM_001365088.1(SLC12A6):c.2803-1G>C rs1057516378
NM_001365088.1(SLC12A6):c.2803-1G>T rs1057516378
NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs) rs1555384171
NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs) rs1057517334
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.298del (p.Glu100fs) rs1555384169
NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter) rs1555376818
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) rs1057517289
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs) rs1057516752
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) rs768514327
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365088.1(SLC12A6):c.3361+2T>G rs1555376682
NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser) rs1555376519
NM_001365088.1(SLC12A6):c.543+2T>G rs1555381538
NM_001365088.1(SLC12A6):c.543+6G>T rs886051055
NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs) rs1057517109
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter) rs1057516898
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) rs1057516456
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001370100.5(ZMYND11):c.117-4238T>A rs1057517548
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del) rs1555164218
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001378454.1(ALMS1):c.-12C>G rs1553396082
NM_001378454.1(ALMS1):c.-1C>T rs756956183
NM_001378454.1(ALMS1):c.-7C>T rs1296403299
NM_001378454.1(ALMS1):c.-8dup rs1553396085
NM_001378454.1(ALMS1):c.-9G>A rs1553396083
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn) rs751123703
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro) rs145678202
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+3A>G rs1553416881
NM_001378454.1(ALMS1):c.10214-11C>G rs1365430683
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+5T>C rs758235228
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup) rs1553418413
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr) rs1553418562
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11547+5A>C rs1181494101
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11668+6T>G rs1553421499
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-3C>T rs767901840
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.11873-7C>T rs1553421696
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg) rs372747251
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu) rs370981817
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs) rs1553421739
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del) rs1245181381
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs) rs1553421752
NM_001378454.1(ALMS1):c.12114+14G>T rs1057524070
NM_001378454.1(ALMS1):c.12114+19A>G rs760374917
NM_001378454.1(ALMS1):c.12114+19A>T rs760374917
NM_001378454.1(ALMS1):c.12114+1G>T rs376719320
NM_001378454.1(ALMS1):c.12114+3_12114+12del rs1348254028
NM_001378454.1(ALMS1):c.12115-8T>C rs78455676
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs) rs1553421886
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12298+19C>T rs1553421935
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.1238-11C>G rs1553400951
NM_001378454.1(ALMS1):c.1238-11C>T rs1553400951
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+12C>T rs1553422680
NM_001378454.1(ALMS1):c.12462+12_12462+18del rs1374364094
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+3C>T rs1553422676
NM_001378454.1(ALMS1):c.12462+5G>A rs1553422678
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11_12463-7del rs1553422758
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>A rs1466354765
NM_001378454.1(ALMS1):c.1339-20C>T rs1553401589
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T rs373469023
NM_001378454.1(ALMS1):c.1339-6C>T rs1553401597
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.137_139del (p.Val46del) rs1553396198
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3]) rs1286794312
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del) rs1553401631
NM_001378454.1(ALMS1):c.1432+12A>G rs1553401640
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-14C>A rs1553403232
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys) rs374262388
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala) rs374139959
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn) rs748646844
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.324+12C>T rs1553396311
NM_001378454.1(ALMS1):c.324+14G>A rs1553396313
NM_001378454.1(ALMS1):c.324+16G>C rs1276086207
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.325-15_325-13del rs1553398832
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser) rs1164554577
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln) rs1553398843
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=) rs1553403755
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser) rs1553403796
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr) rs1228297685
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile) rs1553403843
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly) rs778948871
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu) rs1553396123
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+19G>A rs1553398858
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+24_450+40del rs1553398860
NM_001378454.1(ALMS1):c.451-12A>G rs1274254541
NM_001378454.1(ALMS1):c.451-16T>C rs1553399953
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln) rs148568833
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu) rs1553396125
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys) rs375354717
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del) rs1553399981
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln) rs1553396137
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser) rs369011755
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys) rs905301935
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+4A>T rs1270489328
NM_001378454.1(ALMS1):c.646+5T>C rs1235104737
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.647-19_647-18insT rs1553400422
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal) rs1553396144
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val) rs142904692
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser) rs148306148
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys) rs1553396155
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys) rs1574423810
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla) rs1553396120
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+11A>G rs1553404509
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>A rs1553404629
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup) rs1553396161
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+3A>G rs772334395
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.765-13TA[2] rs1553400662
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=) rs1553404658
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+3A>G rs1553404673
NM_001378454.1(ALMS1):c.7674+5A>G rs756532322
NM_001378454.1(ALMS1):c.7675-7C>T rs1553409573
NM_001378454.1(ALMS1):c.7675-8T>A rs1553409572
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr) rs201426207
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln) rs1553409698
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del) rs1553409711
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9540-15C>A rs780375594
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del) rs1553412739
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro) rs766127195
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9781+5G>C rs1553412803
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9907+17A>G rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+5T>G rs1553414096
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-6C>G rs1553416191
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala) rs1553416202
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del) rs1555135527
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.157+1G>C rs1057516770
NM_001384140.1(PCDH15):c.158-16930T>C rs207470941
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del) rs1554852410
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3983+2dup rs1554827124
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT rs1554819686
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3] rs1452730552
NM_001384140.1(PCDH15):c.4368-3205G>A rs776152870
NM_001384140.1(PCDH15):c.4368-3205del rs1554821197
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys) rs1554816509
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr) rs1554816211
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu) rs1554816210
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter) rs1554816196
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del) rs1554816165
NM_001384140.1(PCDH15):c.4671+1009G>A rs1554815909
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del rs1588876049
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del rs1554815781
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup rs1343032451
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup rs1588874677
NM_001384140.1(PCDH15):c.4671+1403GAG[5] rs1272584101
NM_001384140.1(PCDH15):c.4671+1412G>T rs1467453189
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del rs1554815654
NM_001384140.1(PCDH15):c.4671+1550C>T rs765589050
NM_001384140.1(PCDH15):c.4671+1577GAA[3] rs774006219
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del rs769671738
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup rs1554815534
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup rs1554815468
NM_001384140.1(PCDH15):c.4672-1662del rs1554815484
NM_001384140.1(PCDH15):c.4672-1666G>T rs1297423576
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup rs1554815527
NM_001384140.1(PCDH15):c.4672-2A>G rs1554814991
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs) rs1589057333
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs) rs778963761
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup) rs1554814938
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs) rs1554814927
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs) rs750833316
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs) rs757520086
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs) rs1554814800
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup) rs1554814729
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs) rs1554814684
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs) rs1320916581
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter) rs1554814683
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs) rs1554814669
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del) rs1554814635
NM_001384140.1(PCDH15):c.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.705+2_705+3insTT rs1554903836
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_001384140.1(PCDH15):c.92-515T>G rs1283842168
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del) rs1553511264
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.126+1G>A rs1553507183
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.1413dup (p.Asn472fs) rs1553512225
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1864G>A (p.Val622Met) rs1553512962
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2193-1G>T rs1553513387
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer) rs781088670
NM_001875.5(CPS1):c.236+1G>T rs1553509023
NM_001875.5(CPS1):c.2391+1G>A rs1553513433
NM_001875.5(CPS1):c.2392-1G>T rs755882799
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu) rs1553513861
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg) rs1553513870
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu) rs1486364626
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.301del (p.Ile101fs) rs1553509303
NM_001875.5(CPS1):c.3141+1G>A rs1553516660
NM_001875.5(CPS1):c.3185del (p.Asn1062fs) rs1553517122
NM_001875.5(CPS1):c.3375del (p.Cys1126fs) rs1553517224
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.3558_3558+1dup rs1553517670
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.3G>T (p.Met1Ile) rs1553507155
NM_001875.5(CPS1):c.4002+2T>A rs1553518395
NM_001875.5(CPS1):c.4003-1G>C rs1553518720
NM_001875.5(CPS1):c.4003-2A>T rs1553518719
NM_001875.5(CPS1):c.4056del (p.Thr1353fs) rs1553518726
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4102-559G>C rs529803364
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.711+1G>C rs1553510520
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter) rs756021170
NM_001875.5(CPS1):c.798del (p.Asn267fs) rs1553510944
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
NM_001876.4(CPT1A):c.1163+2T>C rs1555229059
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del) rs747376723
NM_001876.4(CPT1A):c.1298del (p.Asp433fs) rs1057516304
NM_001876.4(CPT1A):c.1348_1352+4del rs1555228640
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1458+1G>A rs1555228470
NM_001876.4(CPT1A):c.1459-1G>A rs1057517046
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1575+1G>A rs1282293820
NM_001876.4(CPT1A):c.1576-2A>G rs1555227607
NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter) rs1057516586
NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter) rs1057516434
NM_001876.4(CPT1A):c.1875+10_1875+33del rs1555226542
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.1876-1G>C rs80356798
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del) rs1555232255
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter) rs1057516800
NM_001876.4(CPT1A):c.2028+2T>G rs1555226417
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter) rs765161206
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.2236-1G>A rs1555226004
NM_001876.4(CPT1A):c.282-1G>A rs1057517188
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.693+1G>C rs1055176086
NM_001876.4(CPT1A):c.693+1G>T rs1055176086
NM_001876.4(CPT1A):c.694-2A>G rs1555230518
NM_001876.4(CPT1A):c.771+1G>C rs1555230494
NM_001876.4(CPT1A):c.772-1G>A rs1555230326
NM_001876.4(CPT1A):c.772-2A>G rs1057517245
NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter) rs1057516396
NM_001876.4(CPT1A):c.967+1G>A rs112498048
NM_001876.4(CPT1A):c.967+2T>C rs1224226554
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1282-5_1282-2del rs1553228653
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer) rs1553233152
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.258_277del (p.Lys87fs) rs1553232197
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.360dup (p.Leu121fs) rs398123668
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del) rs761922057
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.52-48_52-45delinsTAC rs1553233176
NM_001918.5(DBT):c.555+1G>A rs1553231037
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.145-1G>A rs1057516573
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.345+1G>A rs1555478333
NM_002435.3(MPI):c.488-1G>A rs759579169
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.629del (p.Val210fs) rs1555478606
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.89_113del (p.Leu30fs) rs1555478118
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002485.5(NBN):c.*364_*393del rs1554553737
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del) rs770500095
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.5(NBN):c.1124+1G>A rs1057517209
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1125-1G>A rs1057517102
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del) rs1554558265
NM_002485.5(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1846-1G>A rs61753717
NM_002485.5(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) rs1057516852
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del) rs1554556498
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro) rs1554568352
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del) rs1554554251
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.5(NBN):c.2235-12C>T rs1554553904
NM_002485.5(NBN):c.2235-2A>G rs767094704
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.37+6G>C rs540868733
NM_002485.5(NBN):c.37+6G>T rs540868733
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.5(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.5(NBN):c.480+10A>G rs878854512
NM_002485.5(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.5(NBN):c.585-1G>A rs1394578008
NM_002485.5(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+7A>G rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.995-2A>C rs876659521
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002617.4(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.600+1del rs1553232077
NM_002617.4(PEX10):c.601-24_601-23del rs1553231875
NM_002617.4(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.776+2T>A rs1335685844
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter) rs769251149
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup) rs1553231765
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del) rs1438047457
NM_002617.4(PEX10):c.912+1G>A rs1553231739
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.952_954del (p.Lys318del) rs1553231582
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp) rs1358135448
NM_002691.4(POLD1):c.-1-2A>C rs1254845405
NM_002691.4(POLD1):c.1138-14G>A rs200111674
NM_002691.4(POLD1):c.1171dup (p.Asp391fs) rs1555790567
NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp) rs778135510
NM_002691.4(POLD1):c.1242+18G>A rs1057517580
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del) rs1300269779
NM_002691.4(POLD1):c.1371G>T (p.Met457Ile) rs1457008478
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.151CAGGAG[1] (p.51QE[1]) rs760207160
NM_002691.4(POLD1):c.1686+15C>T rs1057517619
NM_002691.4(POLD1):c.1687-7C>T rs1332104657
NM_002691.4(POLD1):c.1773dup (p.Gly592fs) rs1555791532
NM_002691.4(POLD1):c.1775+7C>T rs1057517591
NM_002691.4(POLD1):c.1776-83del rs751745933
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2155-15T>C rs1555792523
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del) rs763850764
NM_002691.4(POLD1):c.2565-15C>T rs777857423
NM_002691.4(POLD1):c.269A>G (p.Gln90Arg) rs778838312
NM_002691.4(POLD1):c.2717+15G>T rs372493810
NM_002691.4(POLD1):c.2717+9C>T rs760140187
NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs) rs2039294872
NM_002691.4(POLD1):c.2953+12_2953+14delinsTC rs1555793370
NM_002691.4(POLD1):c.2T>A (p.Met1Lys) rs1057517594
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.3068-2A>G rs1555793565
NM_002691.4(POLD1):c.3074_3076dup (p.Val1025_Cys1026insLeu) rs1555793570
NM_002691.4(POLD1):c.317-8C>T rs1057524774
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.840+10_840+19del rs770291150
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) rs397514633
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.263+1455del rs979233150
NM_002878.4(RAD51D):c.263+1507_263+1509del rs753760360
NM_002878.4(RAD51D):c.263+1596T>C rs1057517631
NM_002878.4(RAD51D):c.263+1597C>A rs755753106
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.339A>C (p.Lys113Asn) rs786202507
NM_002878.4(RAD51D):c.349T>A (p.Cys117Ser) rs786201358
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs) rs1555570506
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter) rs1555567197
NM_002878.4(RAD51D):c.757C>A (p.Arg253=) rs137886232
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.4(RAD51D):c.785C>T (p.Pro262Leu) rs730881950
NM_002878.4(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_002878.4(RAD51D):c.85del (p.Val29fs) rs1057517586
NM_002878.4(RAD51D):c.94_95del (p.Val32fs) rs786203137
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.424-14_424-9dup rs1064794554
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003060.4(SLC22A5):c.-129_-102del rs1279199437
NM_003060.4(SLC22A5):c.-131A>C rs1554085854
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1052+1G>T rs1554087949
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1267+1G>A rs1554088200
NM_003060.4(SLC22A5):c.1267+3_1267+24del rs1554088199
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.137del (p.Pro46fs) rs762986044
NM_003060.4(SLC22A5):c.13del (p.Asp5fs) rs1554085892
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1451-1G>A rs386134224
NM_003060.4(SLC22A5):c.1455dup (p.Tyr486fs) rs1057517306
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1547del (p.Pro516fs) rs761090705
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1587-2A>G rs1057516402
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr) rs1554088647
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter) rs1554085942
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val) rs774971089
NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu) rs774971089
NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter) rs1253026669
NM_003060.4(SLC22A5):c.252_265dup (p.Ile89fs) rs1554085973
NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg) rs1554085885
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter) rs1321705165
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.393+5G>A rs1554086029
NM_003060.4(SLC22A5):c.394-1G>T rs1057517106
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del) rs1554086841
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup) rs1554085901
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter) rs1057516765
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs) rs1022453298
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu) rs386134196
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys) rs796052033
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu) rs1064793269
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del) rs1554087707
NM_003060.4(SLC22A5):c.952-2A>G rs1554087913
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.150+1G>A rs1554703831
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) rs1554696650
NM_003640.5(ELP1):c.1908+2T>A rs1554696648
NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del) rs1554696595
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851
NM_003823.4(TNFRSF6B):c.*3C>T rs1270503048
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs) rs1305695581
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val) rs1555816251
NM_003823.4(TNFRSF6B):c.769C>A (p.Leu257Met) rs1301451713
NM_003823.4(TNFRSF6B):c.787G>A (p.Glu263Lys) rs781286204
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=) rs541025487
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.312G>A (p.Arg104=) rs267603770
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) rs1555341931
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer) rs1555341926
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) rs1555341874
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004168.4(SDHA):c.*13T>C rs1042476
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly) rs200047573
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val) rs201139275
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr) rs1057517550
NM_004168.4(SDHA):c.1432+20G>C rs200127852
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) rs375396913
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.210dup (p.Gly71fs) rs1553997340
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.770+19_770+23del rs372913930
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004329.3(BMPR1A):c.1166+14del rs1554891117
NM_004329.3(BMPR1A):c.1167-13T>G rs1057517581
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter) rs1554891649
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.676-8C>A rs1554890727
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val) rs1060503400
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827
NM_004360.5(CDH1):c.1009-14C>G rs368293695
NM_004360.5(CDH1):c.1036C>G (p.Gln346Glu) rs878854676
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1223C>G (p.Ala408Gly) rs138135866
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile) rs587782189
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val) rs864622644
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1321-19_1321-16del rs1555516065
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile) rs863224725
NM_004360.5(CDH1):c.1570C>G (p.Arg524Gly) rs373605261
NM_004360.5(CDH1):c.1570C>T (p.Arg524Trp) rs373605261
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala) rs776890776
NM_004360.5(CDH1):c.163+4_163+6dup rs1205684749
NM_004360.5(CDH1):c.1633C>G (p.Arg545Gly) rs863224727
NM_004360.5(CDH1):c.1712-8T>C rs1060504172
NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala) rs786204155
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser) rs35187787
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu) rs587780116
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del) rs878854683
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter) rs1555518270
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys) rs864622630
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp) rs730881661
NM_004360.5(CDH1):c.300C>G (p.Val100=) rs786201463
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup) rs587782476
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.446T>C (p.Leu149Pro) rs780955025
NM_004360.5(CDH1):c.49-16C>G rs1057517618
NM_004360.5(CDH1):c.687+21del rs778134914
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser) rs587780788
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.76G>C (p.Glu26Gln) rs786201058
NM_004360.5(CDH1):c.826C>G (p.Leu276Val) rs750911401
NM_004360.5(CDH1):c.832+17G>A rs373179391
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.103+2T>G rs1553608616
NM_004628.5(XPC):c.1143dup (p.Lys382fs) rs1553605871
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) rs1553605813
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter) rs1553605805
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer) rs1553605795
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.5(XPC):c.1421dup (p.Arg475fs) rs1553605761
NM_004628.5(XPC):c.1464_1466del (p.Gly489del) rs1553605750
NM_004628.5(XPC):c.1465_1476del (p.Gly489_Arg492del) rs1553605733
NM_004628.5(XPC):c.147del (p.Val51fs) rs1553607773
NM_004628.5(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup) rs1553605670
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.1686del (p.Thr563fs) rs1553605655
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs) rs752030576
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.5(XPC):c.1A>T (p.Met1Leu) rs763678756
NM_004628.5(XPC):c.2033+5G>A rs374329989
NM_004628.5(XPC):c.2086GTG[3] (p.Val697_Arg698insVal) rs1423935768
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter) rs1553605023
NM_004628.5(XPC):c.2116-1G>A rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.5(XPC):c.2251-2A>G rs1553604570
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter) rs1281090187
NM_004628.5(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.5(XPC):c.2336dup (p.His780fs) rs1553604549
NM_004628.5(XPC):c.2605-2A>T rs1553604251
NM_004628.5(XPC):c.2633del (p.Ala878fs) rs1553604236
NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del) rs751026244
NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del) rs1553604206
NM_004628.5(XPC):c.2782A>T (p.Lys928Ter) rs3731177
NM_004628.5(XPC):c.299+1G>A rs1553607744
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal) rs1358623305
NM_004628.5(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.5(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.445_446del (p.Glu149fs) rs1402162002
NM_004628.5(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.5(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.5(XPC):c.537-1G>C rs1326646197
NM_004628.5(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.618_619del (p.His206fs) rs1553606979
NM_004628.5(XPC):c.621+2dup rs1553606975
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup) rs750450365
NM_004628.5(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.991-2A>G rs1553605894
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.4(NPHS1):c.1013-1G>C rs1057517413
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1316-2A>G rs1555763090
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1369del (p.Ala457fs) rs1057516918
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1]) rs1555762721
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.174del (p.Gly59fs) rs1057516942
NM_004646.4(NPHS1):c.1757+1G>A rs1555762591
NM_004646.4(NPHS1):c.1931-1G>A rs1555762381
NM_004646.4(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs) rs755763002
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs) rs1244884053
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2663_2663+9del rs771953692
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs) rs748819031
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3115dup (p.His1039fs) rs1057516637
NM_004646.4(NPHS1):c.3167-1G>A rs1009762900
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3287-11G>A rs1175331248
NM_004646.4(NPHS1):c.3287-2A>G rs758432802
NM_004646.4(NPHS1):c.3312-1G>A rs786204729
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs) rs750714387
NM_004646.4(NPHS1):c.3594+1G>A rs1555758856
NM_004646.4(NPHS1):c.3613del (p.Trp1205fs) rs1555758163
NM_004646.4(NPHS1):c.3619del (p.Glu1207fs) rs1430464721
NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.4(NPHS1):c.398-2A>G rs1555763974
NM_004646.4(NPHS1):c.45del (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.595del (p.Glu199fs) rs1057517275
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer) rs1555763503
NM_004646.4(NPHS1):c.851del (p.Pro284fs) rs1555763460
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro) rs755582721
NM_004937.3(CTNS):c.-19-1G>A rs1555558034
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del) rs1555564879
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs) rs779451531
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) rs1057517330
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_004937.3(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+7dup rs1555561050
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_004937.3(CTNS):c.462-27_462-3del rs1555563374
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.562-2_562-1del rs1555563521
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_004937.3(CTNS):c.61+1G>A rs1555558116
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del) rs1555563619
NM_004937.3(CTNS):c.62-2A>G rs1555560637
NM_004937.3(CTNS):c.681+1del rs1555563658
NM_004937.3(CTNS):c.681+2T>C rs1057516723
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.682-1G>A rs1057516771
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup) rs1555563962
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004937.3(CTNS):c.971-1dup rs1555564823
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1647del (p.Gln549fs) rs1555687615
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.956-7C>T rs778959035
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1158del (p.Lys386fs) rs1057516275
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1411+1del rs1057516597
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs) rs1057516657
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>G (p.Leu523Val) rs1554658905
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs) rs1057516340
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1781del (p.Met594fs) rs1057517157
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser) rs1554657922
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.435_438del (p.Ile146fs) rs1057516915
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.616+1del rs1554663295
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.630dup (p.Ser211fs) rs1554661569
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.640del (p.Tyr214fs) rs1554661561
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1257del (p.Gly421fs) rs1553266433
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs) rs1057516806
NM_005562.3(LAMC2):c.1468+1del rs1553266537
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs) rs1057517353
NM_005562.3(LAMC2):c.1714+2T>C rs1553266671
NM_005562.3(LAMC2):c.1715-1G>A rs774080932
NM_005562.3(LAMC2):c.1715-1G>C rs774080932
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.180dup (p.Asp61Ter) rs1553264644
NM_005562.3(LAMC2):c.1858-1G>A rs1057516487
NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs) rs1057516569
NM_005562.3(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs) rs778012079
NM_005562.3(LAMC2):c.2014+1G>A rs1553267007
NM_005562.3(LAMC2):c.2220+2T>G rs1553267060
NM_005562.3(LAMC2):c.2348del (p.Glu783fs) rs776142807
NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs) rs1057516383
NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del) rs1553267343
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs) rs1553267345
NM_005562.3(LAMC2):c.2456+1G>C rs1553267356
NM_005562.3(LAMC2):c.2456+2dup rs1553267357
NM_005562.3(LAMC2):c.2541_2542del (p.His847fs) rs1057516727
NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter) rs151190720
NM_005562.3(LAMC2):c.2602-1G>C rs1553267499
NM_005562.3(LAMC2):c.268+1G>A rs759509443
NM_005562.3(LAMC2):c.2708AAG[2] (p.Glu905del) rs1179496469
NM_005562.3(LAMC2):c.2755-2A>G rs1553267554
NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs) rs1057516935
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del) rs1553267617
NM_005562.3(LAMC2):c.3069+1G>C rs1553267638
NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs) rs1057517159
NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs) rs1553267679
NM_005562.3(LAMC2):c.3328+19_3328+25del rs747693187
NM_005562.3(LAMC2):c.3328+8AACCCAC[3] rs747693187
NM_005562.3(LAMC2):c.3329-2A>G rs1553267870
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs) rs1057516473
NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs) rs1553267882
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_005562.3(LAMC2):c.3411del (p.Gln1137fs) rs1553267885
NM_005562.3(LAMC2):c.3G>T (p.Met1Ile) rs1479808203
NM_005562.3(LAMC2):c.503+1G>C rs1057516410
NM_005562.3(LAMC2):c.504-2A>C rs1553265770
NM_005562.3(LAMC2):c.537del (p.Asn180fs) rs745512079
NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter) rs1057516444
NM_005562.3(LAMC2):c.640+2T>A rs1553265794
NM_005562.3(LAMC2):c.641-2A>G rs1553265902
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter) rs757617349
NM_005562.3(LAMC2):c.877_878del (p.Gly293fs) rs1057516218
NM_005562.3(LAMC2):c.953+1G>A rs1553266052
NM_005562.3(LAMC2):c.954-2A>T rs1553266260
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.1226-5T>C rs1555009952
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.219_220del (p.His74fs) rs1555136752
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.756+7del rs377720482
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1473+19G>A rs1057517628
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1687-13A>G rs527311638
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2174-12C>G rs192222479
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2468+2dup rs1555226665
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14C>G rs368185422
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.4(POLE):c.3459+2T>C rs1057517634
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.4(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4952+13C>T rs1057517612
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5679-14T>C rs1555221517
NM_006231.4(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del) rs1188033351
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-1G>A rs1555300846
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.4(POLE):c.802-1G>C rs1555229470
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup) rs1554182643
NM_006261.5(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.5(PROP1):c.342+1G>A rs1436089021
NM_006261.5(PROP1):c.343-2A>T rs1057517041
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del) rs1554182637
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.5(PROP1):c.557del (p.Ala186fs) rs762529663
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.652dup (p.Ser218fs) rs1554182363
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.1A>G (p.Met1Val) rs1555346369
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.133_134del (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) rs1409904698
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) rs1555274337
NM_006493.4(CLN5):c.705_706del (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) rs1057516814
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) rs764790770
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) rs200348035
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.-6-2A>G rs1555932985
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) rs1555913523
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) rs1555932071
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala) rs1060502703
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
NM_007294.4(BRCA1):c.*1286C>T rs548275991
NM_007294.4(BRCA1):c.-19-1G>A rs569074958
NM_007294.4(BRCA1):c.-20+101_-20+102delinsGC rs1057517555
NM_007294.4(BRCA1):c.-20+102dup rs759063490
NM_007294.4(BRCA1):c.-20+103G>A rs1057517546
NM_007294.4(BRCA1):c.-20+59G>T rs1057517547
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) rs397508826
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser) rs767666190
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1088del (p.Asn363fs) rs80357954
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg) rs786203434
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.11C>T (p.Ser4Phe) rs786203152
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu) rs397507184
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.124del (p.Ile42fs) rs80357943
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg) rs398122634
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly) rs80356964
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) rs80357801
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1485del (p.Glu495fs) rs1555591703
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) rs41286294
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val) rs80357333
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) rs397508912
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1996del (p.Leu666fs) rs80357922
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser) rs730881476
NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg) rs876658307
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.213-24G>A rs1555596751
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu) rs80357415
NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe) rs80357051
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser) rs1555590087
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) rs398122655
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg) rs80357209
NM_007294.4(BRCA1):c.231G>A (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter) rs55914168
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys) rs80357203
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2472T>C (p.Asn824=) rs786201415
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter) rs398122661
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys) rs377475866
NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr) rs397508976
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2630del (p.Asn877fs) rs886038002
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser) rs397507202
NM_007294.4(BRCA1):c.2706A>G (p.Glu902=) rs398122665
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2811G>A (p.Lys937=) rs876659271
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2913T>C (p.His971=) rs786203804
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe) rs730881487
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu) rs876659270
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys) rs879255482
NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile) rs786202070
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs) rs1064794177
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp) rs80356901
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3308G>T (p.Cys1103Phe) rs80357135
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs) rs80357575
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His) rs80357334
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs) rs80357828
NM_007294.4(BRCA1):c.338A>G (p.Asn113Ser) rs587780800
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3503dup (p.Asn1168fs) rs397507216
NM_007294.4(BRCA1):c.3535A>C (p.Lys1179Gln) rs587782188
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp) rs398122675
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu) rs763354142
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr) rs80357143
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del) rs1057517536
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser) rs397507219
NM_007294.4(BRCA1):c.3785_3787del (p.Ser1262del) rs1555587043
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) rs80356888
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu) rs587782241
NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg) rs730881444
NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr) rs1555596338
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del) rs80358341
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+10G>A rs80358104
NM_007294.4(BRCA1):c.4185+11TG[7] rs273900723
NM_007294.4(BRCA1):c.4185+9C>A rs80358034
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4191G>A (p.Arg1397=) rs1555584270
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4358-2760dup rs1555583250
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.441+17T>C rs368415464
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs) rs80357534
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) rs1060502325
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.4(BRCA1):c.4833_4847del (p.Gln1612_Ala1616del) rs1555580795
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile) rs80357158
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter) rs1173155015
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) rs397507239
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5148T>G (p.Tyr1716Ter) rs397509230
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln) rs730881496
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.4(BRCA1):c.5194-10T>C rs1555576995
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln) rs80357432
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met) rs398122694
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter) rs397509258
NM_007294.4(BRCA1):c.5332+1G>C rs80358041
NM_007294.4(BRCA1):c.5333-1G>A rs80358126
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5350G>A (p.Val1784Ile) rs1060502328
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe) rs878854958
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+24_5406+27del rs766938984
NM_007294.4(BRCA1):c.5406+53A>T rs273901766
NM_007294.4(BRCA1):c.5407-21C>T rs273901768
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs) rs1057517637
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) rs397509284
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del) rs397507253
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe) rs55688530
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) rs398122708
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.716A>T (p.His239Leu) rs80357396
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro) rs879255288
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.4(BRCA1):c.756T>C (p.Arg252=) rs786201338
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-20C>T rs80358039
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.832dup (p.Thr278fs) rs886040325
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs) rs80357728
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter) rs730881468
NM_007294.4(BRCA1):c.869del (p.Leu290fs) rs1555592956
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.4(BRCA1):c.889A>G (p.Met297Val) rs80357196
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys) rs80356924
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr) rs80357252
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) rs727502978
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del) rs878854967
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.2(GRHPR):c.214+1G>C rs1244822375
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-2_215-1del rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.403_404+1del rs1554747007
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) rs1243273371
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012203.2(GRHPR):c.598+1del rs1554747933
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+2dup rs1218448371
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) rs1554749668
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) rs1554749707
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) rs1554749727
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs) rs1057517111
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs) rs1554161865
NM_012434.5(SLC17A5):c.1259+1G>T rs146095590
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs) rs1554160766
NM_012434.5(SLC17A5):c.1350+1G>A rs1057516951
NM_012434.5(SLC17A5):c.1351-2A>G rs1554160244
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter) rs1554160239
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs) rs1554160223
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs) rs1554160206
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs) rs1554160209
NM_012434.5(SLC17A5):c.204del (p.Asp69fs) rs1057516549
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs) rs1057516505
NM_012434.5(SLC17A5):c.215del (p.Thr72fs) rs1057517269
NM_012434.5(SLC17A5):c.292-1G>C rs1554164322
NM_012434.5(SLC17A5):c.292-2A>C rs1057516528
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) rs1057516257
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.423del (p.Phe141fs) rs1057516419
NM_012434.5(SLC17A5):c.526-2A>G rs1554164096
NM_012434.5(SLC17A5):c.613+2T>A rs1554164078
NM_012434.5(SLC17A5):c.614-1G>A rs1554163958
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs) rs1554163878
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe) rs149340734
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.820-2A>C rs1554162842
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup) rs1554162837
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) rs1553156894
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_014215.3(INSRR):c.3397+17G>T rs139555558
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) rs1554125059
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2458-6_2458del rs1057517277
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) rs1554123627
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.350-26C>T rs1048078452
NM_014249.4(NR2E3):c.571+44C>G rs372602322
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) rs1555249881
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.12779del (p.Ser4260fs) rs1555249460
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) rs1555249338
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) rs1555252844
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) rs1057516829
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) rs1555252742
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) rs1057517305
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) rs140034972
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) rs1057517014
NM_014363.6(SACS):c.7868del (p.Gly2623fs) rs1555251301
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del) rs1553312282
NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs) rs1553316648
NM_014625.4(NPHS2):c.1062dup (p.Asn355fs) rs1057516900
NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del) rs1553312159
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter) rs1167223941
NM_014625.4(NPHS2):c.166dup (p.Glu56fs) rs1553316611
NM_014625.4(NPHS2):c.191TGG[1] (p.Val65del) rs1553316600
NM_014625.4(NPHS2):c.249del (p.Leu84fs) rs1553316575
NM_014625.4(NPHS2):c.275-2A>G rs1553315173
NM_014625.4(NPHS2):c.369del (p.Cys124fs) rs1057516395
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp) rs139290621
NM_014625.4(NPHS2):c.3G>A (p.Met1Ile) rs1057516680
NM_014625.4(NPHS2):c.451+15dup rs748179295
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.523C>T (p.Pro175Ser) rs1472510122
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.631T>A (p.Ser211Thr) rs779736229
NM_014625.4(NPHS2):c.67_69del (p.Glu23del) rs1398961188
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu) rs1553313479
NM_014625.4(NPHS2):c.795-1G>A rs1057516523
NM_014625.4(NPHS2):c.7AGG[1] (p.Arg4del) rs1553316672
NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter) rs1057517164
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014625.4(NPHS2):c.873+1G>A rs1553312833
NM_014625.4(NPHS2):c.874-1G>A rs776016942
NM_014625.4(NPHS2):c.874-2A>C rs1031744496
NM_014625.4(NPHS2):c.934C>G (p.Leu312Val) rs1553312393
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015166.4(MLC1):c.-59-1G>C rs1555968825
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
NM_015166.4(MLC1):c.1065del (p.Arg356fs) rs1555962643
NM_015166.4(MLC1):c.1076del (p.Leu359fs) rs1372842345
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.4(MLC1):c.321+1G>T rs765879182
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.423+2dup rs1555967668
NM_015166.4(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.4(MLC1):c.448del (p.Leu150fs) rs1555967227
NM_015166.4(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.771+2dup rs1555965439
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln) rs540358165
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015346.4(ZFYVE26):c.1201CTC[1] (p.Leu402del) rs1555400034
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.1763_1765del (p.Asp588_Leu589delinsVal) rs1555399428
NM_015346.4(ZFYVE26):c.2248+2T>C rs1555399278
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2401+1G>T rs1555398778
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) rs768176054
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) rs1555398241
NM_015346.4(ZFYVE26):c.3020-1G>A rs1555397638
NM_015346.4(ZFYVE26):c.3070C>T (p.Pro1024Ser) rs267604032
NM_015346.4(ZFYVE26):c.3077TTC[1] (p.Leu1027del) rs1555397625
NM_015346.4(ZFYVE26):c.3179_3180insTGA (p.Ser1060_Ile1061insAsp) rs1555397578
NM_015346.4(ZFYVE26):c.3282_3293del (p.Arg1095_Leu1098del) rs753694248
NM_015346.4(ZFYVE26):c.3292_3294dup (p.Leu1098dup) rs763823801
NM_015346.4(ZFYVE26):c.3463TTC[1] (p.Phe1156del) rs1555397452
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.3626+1G>C rs1555397310
NM_015346.4(ZFYVE26):c.363+1G>A rs935301743
NM_015346.4(ZFYVE26):c.363+2T>G rs760001730
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466
NM_015346.4(ZFYVE26):c.4372+1_4372+3del rs1555396965
NM_015346.4(ZFYVE26):c.4798-1G>T rs1555396303
NM_015346.4(ZFYVE26):c.5125_5127del (p.Glu1709del) rs1555396056
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) rs1214483973
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015346.4(ZFYVE26):c.5484+1G>T rs1555395524
NM_015346.4(ZFYVE26):c.5484+1del rs1555395525
NM_015346.4(ZFYVE26):c.5485-2A>G rs1555395288
NM_015346.4(ZFYVE26):c.5581_5583del (p.Ala1861del) rs1555395254
NM_015346.4(ZFYVE26):c.5767_5790+3dup rs1555394994
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter) rs1555394824
NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del) rs1555394387
NM_015346.4(ZFYVE26):c.6276_6278del (p.Pro2093del) rs755756797
NM_015346.4(ZFYVE26):c.6475TAC[1] (p.Tyr2160del) rs1555394298
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del) rs764479245
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) rs771393692
NM_015346.4(ZFYVE26):c.7371+1G>A rs1555393181
NM_015346.4(ZFYVE26):c.7390C>T (p.Gln2464Ter) rs1555393011
NM_015346.4(ZFYVE26):c.7416+2T>C rs1555393005
NM_015346.4(ZFYVE26):c.7434_7435del (p.Ile2478fs) rs1555392785
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_017654.4(SAMD9):c.132del (p.Val45fs) rs1554337424
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs) rs1554337029
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter) rs1554336918
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del) rs755666547
NM_017739.4(POMGNT1):c.*335_*361del rs754791169
NM_017739.4(POMGNT1):c.*499G>A rs866924336
NM_017739.4(POMGNT1):c.*513del rs1553162438
NM_017739.4(POMGNT1):c.*5TCC[1] rs780919404
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.4(POMGNT1):c.121-2A>G rs1057516871
NM_017739.4(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.4(POMGNT1):c.1539+1G>T rs138642840
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.4(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.4(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.4(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.4(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>C rs386834024
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT rs1553162621
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.354+1G>A rs1057517449
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.653-2A>C rs1553163721
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.4(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.4(POMGNT1):c.879+1G>C rs1553163590
NM_017739.4(POMGNT1):c.879+2T>C rs1057516318
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-2A>G rs1057516830
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.4(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_017777.3(MKS1):c.-34_-12del rs1244307754
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018941.4(CLN8):c.-123-1G>C rs1554448791
NM_018941.4(CLN8):c.-131_-124+13del rs1554446821
NM_018941.4(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.4(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.4(CLN8):c.544-2A>G rs1554451484
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1481-2A>C rs1554609978
NM_019098.5(CNGB3):c.1578+2C>G rs1554609943
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.5(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.5(CNGB3):c.1928+2T>C rs1057517454
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs) rs1057517434
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs) rs1554614402
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.5(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_020533.2(MCOLN1):c.-1015_789del
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1134+2T>C rs1555742162
NM_020533.3(MCOLN1):c.1135-1G>A rs1057516458
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1135-2A>G rs1057517335
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) rs1057516531
NM_020533.3(MCOLN1):c.1476del (p.Phe493fs) rs1555742362
NM_020533.3(MCOLN1):c.1621del (p.Ile541fs) rs1555742787
NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del) rs1555742834
NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer) rs1555742837
NM_020533.3(MCOLN1):c.32-2A>G rs1555741545
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_020533.3(MCOLN1):c.681-2A>G rs1057517453
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del) rs1555742012
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) rs1057517040
NM_020533.3(MCOLN1):c.973_984+10del rs779141908
NM_020975.6(RET):c.1267G>A (p.Gly423Arg) rs767601598
NM_020975.6(RET):c.1538C>T (p.Ala513Val) rs149238501
NM_020975.6(RET):c.1777G>A (p.Gly593Arg) rs878855059
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2137-16del rs1409965349
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) rs55947360
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020975.6(RET):c.2641C>G (p.Leu881Val) rs377767427
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.3040-11C>G rs1057517646
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) rs774347808
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3188-2A>G rs1554820302
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs) rs768949918
NM_022042.4(SLC26A1):c.139del (p.Arg47fs) rs1553915793
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs) rs1553915253
NM_022042.4(SLC26A1):c.154del (p.Asp52fs) rs1553915784
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs) rs1553915228
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs) rs1265696919
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs) rs1265696919
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del) rs1553915189
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs) rs1372086275
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) rs1553915192
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter) rs200798328
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs) rs1553915188
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer) rs1553915173
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs) rs1553915155
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs) rs1553915149
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter) rs752252231
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter) rs1553915726
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs) rs1553915711
NM_022042.4(SLC26A1):c.347del (p.Gly116fs) rs756881822
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) rs538543314
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) rs587780334
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) rs770195088
NM_024301.5(FKRP):c.1119del (p.Asn374fs) rs1555739041
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1208del (p.Phe403fs) rs1555739119
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.1475del (p.Thr492fs) rs1555739333
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) rs1555738149
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) rs1555738201
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) rs1555738245
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) rs1555738311
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.464del (p.Leu155fs) rs1555738456
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup) rs1555738552
NM_024301.5(FKRP):c.558dup (p.Ala187fs) rs1191737604
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) rs1555738568
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) rs1555738675
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) rs1555738823
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) rs1483781400
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) rs1555738883
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs) rs1555270321
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer) rs1555270066
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.204-1G>C rs748389002
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) rs1555268297
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter) rs1555267839
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.3694-1G>C rs1297022622
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg) rs556318081
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.771+1G>C rs1555271217
NM_024312.5(GNPTAB):c.771+2T>A rs1555271215
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer) rs1555270428
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) rs1555050268
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) rs786204080
NM_024675.4(PALB2):c.1103del (p.Asn368fs) rs1555461451
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1684+10G>T rs1057517620
NM_024675.4(PALB2):c.1685-7T>G rs1555460705
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) rs786203747
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer) rs1555460682
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) rs371149159
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.212-2A>T rs730881879
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2156del (p.Pro719fs) rs876660193
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) rs781693946
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del) rs1555460399
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) rs764925691
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) rs730881889
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.4(PALB2):c.2514+20_2514+21del rs750567675
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.2749-16_2749-14del rs765742648
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) rs878855113
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.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) rs876658196
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
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.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.423G>A (p.Gln141=) rs786202680
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) rs760629975
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.666_669del (p.Leu222fs) rs1555461683
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) rs587780823
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) rs587782658
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.843_845del (p.Arg282del) rs786203247
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) rs180177094
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup) rs876660786
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter) rs1555202656
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs) rs1057516998
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1024del (p.Ile342fs) rs765561672
NM_024685.4(BBS10):c.1056del (p.Pro353fs) rs1057516623
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs) rs1555202642
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs) rs1057517206
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter) rs1310735399
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1408del (p.Gln470fs) rs1555202614
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs) rs1555202607
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1533del (p.Thr512fs) rs773864735
NM_024685.4(BBS10):c.1538dup (p.Thr514fs) rs1555202599
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter) rs1555202583
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) rs1555202572
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1952del (p.Lys651fs) rs1555202562
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) rs1555202546
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.214_215del (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs) rs1555202737
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.299_305del (p.Ile100fs) rs1057516701
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.320del (p.Pro107fs) rs1555202731
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter) rs1057516240
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter) rs1057516753
NM_024685.4(BBS10):c.414del (p.Gln139fs) rs1555202717
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.534_535del (p.Phe178fs) rs1555202698
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter) rs574032499
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.784_785del (p.Glu262fs) rs1555202681
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter) rs1555202801
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_025077.4(TOE1):c.-54G>C rs540793556
NM_025077.4(TOE1):c.-54G>T rs540793556
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC rs886054542
NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
NM_025136.4(OPA3):c.431del (p.Pro144fs) rs1205708262
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) rs745544229
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) rs1057516497
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) rs1555736814
NM_031885.3(BBS2):c.1528_1539del12 rs1555521575
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1081-1G>T rs1555522000
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.1797+1G>A rs1555521489
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1474-13_1475del rs1555603635
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1629-500G>A rs1057517645
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) rs35080306
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) rs1554037537
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.233+1G>T rs376679416
NM_032520.5(GNPTG):c.233+2T>A rs1555451608
NM_032520.5(GNPTG):c.233+2T>C rs1555451608
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr) rs1555450661
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter) rs763678034
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) rs1555451962
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln) rs749314645
NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del) rs1344845304
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del) rs1555452031
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly) rs137853826
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) rs758242017
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.814_816del (p.Arg272del) rs1555452112
NM_032520.5(GNPTG):c.823+1G>T rs1385935677
NM_032520.5(GNPTG):c.824-39_824-13del rs1555452124
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup) rs1555452152
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter) rs1555452155
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter) rs772723751
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs) rs1555452172
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs) rs1555452169
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter) rs751864147
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs) rs1555452178
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) rs775705721
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs) rs1555452195
NM_032957.4(RTEL1):c.838_840delGAG rs1555901753
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) rs753852395
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[9] rs113052866
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val) rs1261110148
NM_054012.4(ASS1):c.1127+1G>A rs1057517402
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_054012.4(ASS1):c.1139del (p.Gln380fs) rs1213378896
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del) rs1554725909
NM_054012.4(ASS1):c.173dup (p.Val59fs) rs1554982243
NM_054012.4(ASS1):c.175-1G>A rs1554982809
NM_054012.4(ASS1):c.1A>G (p.Met1Val) rs750780742
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu) rs1554982824
NM_054012.4(ASS1):c.226del (p.Ala76fs) rs1057516648
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter) rs1554982847
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.3G>A (p.Met1Ile) rs1057516960
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del) rs1554983716
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_054012.4(ASS1):c.412dup (p.Gln138fs) rs1554983717
NM_054012.4(ASS1):c.420+1G>A rs1554983719
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.559_566+13del rs1554722453
NM_054012.4(ASS1):c.567-1G>T rs1057517259
NM_054012.4(ASS1):c.598-2_599dup rs1554723138
NM_054012.4(ASS1):c.688+1_688+5del rs1554723160
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter) rs1554723625
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs) rs775791516
NM_054012.4(ASS1):c.961G>A (p.Val321Met) rs727503813
NM_054012.4(ASS1):c.970+1G>A rs1396766124
NM_054012.4(ASS1):c.971-1G>A rs1554725033
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338
NM_058195.4(CDKN2A):c.-33G>A rs1057517639
NM_058195.4(CDKN2A):c.194-3653G>C rs1800586
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg) rs1554659236
NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu) rs374360796
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) rs1553410995
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) rs1553410866
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) rs1553408603
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) rs896524026
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1678-2dup rs1553404545
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1842+2T>A rs1553404194
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) rs1391434905
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) rs1553403993
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) rs1553403879
NM_133259.4(LRPPRC):c.2080-1G>C rs1553403596
NM_133259.4(LRPPRC):c.2296+1G>A rs1553403303
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) rs1301842578
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.2736+1G>T rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T rs1553398334
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) rs1463658772
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) rs1553396232
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) rs1300725076
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) rs1553391303
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3986-11_3986-8dup rs764564351
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) rs1293234237
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) rs1553411751
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup) rs760874906
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) rs774622259
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10156+22398A>G rs1554206689
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) rs760260903
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) rs1554183763
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) rs1554183496
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del) rs1345766794
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe) rs1554183437
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) rs1554219449
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) rs1554183320
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr) rs1554183164
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs) rs1554165849
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11786-2del rs1554163591
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) rs1457757188
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del) rs1329790948
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del) rs1554163379
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) rs1554163298
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter) rs1554163280
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) rs1554163223
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.187_189del (p.Val63del) rs1554228222
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del) rs1554214650
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) rs150597050
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) rs763682158
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) rs1554209944
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp) rs1307445542
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.281+2dup rs1554228127
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del) rs1554204118
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del) rs1554202991
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del) rs1554194551
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del) rs1554191359
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del) rs1554162788
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) rs1554133798
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del) rs1554299250
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys) rs776060304
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) rs1554290053
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7487-5TA[3] rs1554281310
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro) rs778755997
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8107+4555A>G rs207466959
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr) rs1554263080
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) rs1554243589
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup) rs1554221417
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg) rs781387046
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) rs1554220680
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) rs1057516413
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) rs1554218479
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1542+1G>A rs1554537612
NM_152419.3(HGSNAT):c.1542+1G>C rs1554537612
NM_152419.3(HGSNAT):c.1542+2T>G rs1554537613
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer) rs1409093216
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup) rs1303048852
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs) rs1554526454
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) rs1554581280
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) rs1554581420
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) rs1554588147
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) rs1554590369
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) rs1236948038
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) rs1554590420
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) rs1554590501
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) rs1554590506
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) rs1554590515
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) rs1554590537
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) rs1554590552
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) rs1554590631
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) rs1554590620
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) rs1554590636
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1206+40T>C rs1554625938
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) rs1554645561
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2515+16596_2515+16608del rs1554674064
NM_152564.5(VPS13B):c.2515+16609T>G rs1554674081
NM_152564.5(VPS13B):c.2515+37177T>C rs207469599
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.4158-16A>C rs1554824637
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) rs1554824647
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890
NM_152564.5(VPS13B):c.4224+725A>T rs1554825046
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) rs1554826499
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2dup rs1554852944
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.7941+20_7941+42del rs769286340
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) rs1554560677
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) rs1554566693
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) rs267601673
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del) rs1553941372
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr) rs1553941373
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del) rs1553941469
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1507G>A (p.Val503Met) rs374865012
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1795del (p.Leu599fs) rs1553941540
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29_31del (p.Lys10del) rs1553941158
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.343_345del (p.Val115del) rs1553941232
NM_152618.3(BBS12):c.416_419del (p.Asp139fs) rs1553941255
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.568dup (p.Ser190fs) rs1553941279
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr) rs879118135
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
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.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.15_16del (p.Pro6fs) rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131
NM_172250.3(MMAA):c.970-2A>T rs1553959113
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.254-2081G>A rs780023517
NM_174878.3(CLRN1):c.254-2099_254-2086del rs1553772861
NM_174878.3(CLRN1):c.254-2189dup rs1553772899
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_183050.4(BCKDHB):c.*13G>A rs398124559
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs) rs1582146275
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs) rs1057517414
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs) rs1057516781
NM_183050.4(BCKDHB):c.196+1G>C rs1554181203
NM_183050.4(BCKDHB):c.196+1G>T rs1554181203
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs) rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) rs940391887
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs) rs1554189447
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr) rs1554189815
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu) rs1554189861
NM_183050.4(BCKDHB):c.633+1G>C rs398124589
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) rs994415333
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_183050.4(BCKDHB):c.742+1G>A rs1554190322
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
NM_183050.4(BCKDHB):c.840+1G>A rs760538465
NM_183050.4(BCKDHB):c.840+1G>T rs760538465
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.841-1G>C rs962489830
NM_183050.4(BCKDHB):c.853del (p.Arg285fs) rs1057517124
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup) rs1554180793
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His) rs1246984003
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.951+27209A>G rs207467187
NM_183050.4(BCKDHB):c.952-16_952-15del rs890103324
NM_183050.4(BCKDHB):c.952-2A>G rs1554205499
NM_183050.4(BCKDHB):c.964del (p.Thr322fs) rs1554205506
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604
NM_183050.4(BCKDHB):c.97del (p.Arg33fs) rs1057516731
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter) rs1344062987
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter) rs1555698689
NM_198129.4(LAMA3):c.1741+2T>C rs1555698735
NM_198129.4(LAMA3):c.18del (p.Pro7fs) rs1555670401
NM_198129.4(LAMA3):c.1941+1del rs1555700047
NM_198129.4(LAMA3):c.1942-2A>C rs1555700119
NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs) rs1555701549
NM_198129.4(LAMA3):c.2305-2A>G rs1555702265
NM_198129.4(LAMA3):c.2428+1G>A rs375558120
NM_198129.4(LAMA3):c.2572-2A>G rs1555703785
NM_198129.4(LAMA3):c.2823+1G>A rs1555704210
NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter) rs755080322
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter) rs550140177
NM_198129.4(LAMA3):c.3093+1G>A rs1392528129
NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs) rs1555708032
NM_198129.4(LAMA3):c.3336+1G>A rs1555708549
NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter) rs767385840
NM_198129.4(LAMA3):c.3463+1G>A rs1555709710
NM_198129.4(LAMA3):c.3719+3_3719+6del rs1436285030
NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter) rs374897016
NM_198129.4(LAMA3):c.394del (p.Leu132fs) rs887748208
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs) rs747355586
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs) rs1555712024
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs) rs1555715208
NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter) rs752265207
NM_198129.4(LAMA3):c.4422+1G>A rs1016415773
NM_198129.4(LAMA3):c.4501del (p.Ser1501fs) rs1555716726
NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs) rs1555716754
NM_198129.4(LAMA3):c.4768-2A>G rs1555719747
NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del) rs1555719776
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter) rs1555719813
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs) rs1598965457
NM_198129.4(LAMA3):c.4974del (p.Ala1659fs) rs767394785
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup) rs1555721786
NM_198129.4(LAMA3):c.5112+1G>A rs1057517023
NM_198129.4(LAMA3):c.5112+1G>T rs1057517023
NM_198129.4(LAMA3):c.5112+2T>G rs1555721815
NM_198129.4(LAMA3):c.5152del (p.Cys1718fs) rs1057517235
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs) rs1555724066
NM_198129.4(LAMA3):c.5205del (p.Cys1736fs) rs1057517367
NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly) rs1555724108
NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA rs1555728297
NM_198129.4(LAMA3):c.5461+1G>A rs1555728319
NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs) rs1555728701
NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup) rs1555728685
NM_198129.4(LAMA3):c.566-1G>A rs776632604
NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter) rs1057517314
NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter) rs1555730209
NM_198129.4(LAMA3):c.5836+2T>C rs1057516584
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer) rs1057516688
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs) rs1555731178
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter) rs1555732032
NM_198129.4(LAMA3):c.6318+2T>C rs1057516280
NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs) rs1555732431
NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter) rs1555732528
NM_198129.4(LAMA3):c.6505del (p.Val2169fs) rs1057516476
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del) rs1555732875
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.4(LAMA3):c.6616-13G>T rs886053672
NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs) rs1057517196
NM_198129.4(LAMA3):c.6719-2A>G rs1555734356
NM_198129.4(LAMA3):c.6836-2A>G rs1555734513
NM_198129.4(LAMA3):c.6836-36_6836-16del rs1555734493
NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter) rs765104557
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.4(LAMA3):c.7165del (p.Val2389fs) rs1555736532
NM_198129.4(LAMA3):c.7219del (p.Leu2407fs) rs1555736608
NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs) rs1555737473
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.7352del (p.Met2451fs) rs1555737509
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu) rs1085308017
NM_198129.4(LAMA3):c.7461_7481+17del rs1555737629
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter) rs1555737779
NM_198129.4(LAMA3):c.7677del (p.Gly2560fs) rs1057516605
NM_198129.4(LAMA3):c.7820del (p.Gly2607fs) rs1356353167
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.4(LAMA3):c.8004_8005del (p.Gly2669fs) rs1303193834
NM_198129.4(LAMA3):c.8043+2T>C rs1555740717
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter) rs1555740945
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs) rs1555740963
NM_198129.4(LAMA3):c.8292G>A (p.Trp2764Ter) rs1555743454
NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter) rs1057516764
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198129.4(LAMA3):c.8576+1G>A rs1555744805
NM_198129.4(LAMA3):c.8576+2T>G rs1555744812
NM_198129.4(LAMA3):c.8626_8627insC (p.Lys2876fs) rs1555745207
NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs) rs1555745263
NM_198129.4(LAMA3):c.8708+1G>T rs754558574
NM_198129.4(LAMA3):c.8708+2T>G rs1555745317
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter) rs1401574168
NM_198129.4(LAMA3):c.8827del (p.Arg2943fs) rs1555746079
NM_198129.4(LAMA3):c.8891dup (p.Arg2965fs) rs34754160
NM_198129.4(LAMA3):c.8971dup (p.Asp2991fs) rs1057517211
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter) rs1555751423
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter) rs771405735
NM_198129.4(LAMA3):c.9176del (p.Ser3059fs) rs1555751482
NM_198129.4(LAMA3):c.9202del (p.Trp3068fs) rs1555751529
NM_198129.4(LAMA3):c.9293CCA[1] (p.Thr3099del) rs1555752733
NM_198129.4(LAMA3):c.9352-1G>C rs1057517272
NM_198129.4(LAMA3):c.938del (p.Pro313fs) rs1555684952
NM_198129.4(LAMA3):c.9400del (p.Asp3134fs) rs1555754450
NM_198129.4(LAMA3):c.9512-11T>C rs776372744
NM_198129.4(LAMA3):c.9512-1G>T rs1555754655
NM_198129.4(LAMA3):c.9575del (p.Thr3192fs) rs1057517440
NM_198129.4(LAMA3):c.9597_9599dup (p.Gly3199_Ser3200insArg) rs750402445
NM_198129.4(LAMA3):c.9736+1G>C rs1234435123
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs) rs1555756067
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs) rs1555756775
NM_199292.2(TH):c.-69T>A rs1554924394
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11390-2del rs760100733
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.11712-2A>G rs753505333
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del) rs1553252937
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) rs1553252409
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe) rs146240320
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.4(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13811+2T>C rs766515318
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14344-1G>A rs919142559
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.4(USH2A):c.14969-1G>A rs1553249311
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del) rs1553249310
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.4(USH2A):c.15052+1G>A rs1553249290
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del) rs1553250409
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu) rs1553320498
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del) rs757082108
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.2994-2A>G rs1553316430
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.4(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_206933.4(USH2A):c.3158-47_3158-17del rs1553315049
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del) rs1461275915
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr) rs1553314999
NM_206933.4(USH2A):c.3317-1G>A rs1553313909
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4081+2T>C rs1553313505
NM_206933.4(USH2A):c.4082-2A>G rs1553313340
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del) rs773595155
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer) rs1553310736
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly) rs1553299065
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.4(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6326-3_6332del rs1553287116
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs) rs1553285970
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs) rs1553285944
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6806-9473C>A rs207461105
NM_206933.4(USH2A):c.6810del (p.Ile2271fs) rs1553282707
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) rs1553281890
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala) rs1553274535
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys) rs754310768
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7531del (p.Val2511fs) rs1553274435
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7595-1G>A rs1553273421
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe) rs1205473124
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser) rs768532694
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) rs1553272035
NM_206933.4(USH2A):c.8682-17A>G rs1553271011
NM_206933.4(USH2A):c.8682-1G>A rs1553271001
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser) rs1553270997
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.4(USH2A):c.8845+1G>A rs1553270954
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8846-2A>G rs1553268594
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del) rs764038940
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.4(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile) rs1553250805
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp) rs756163056
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del) rs773436260
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-1dup rs1554651396
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC rs1554651469
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-23_-14dup10 rs1554651524
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-15dup10 rs1554651532
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-25_-12dup rs1554651499
NR_003051.3(RMRP):n.-25_-14dup12 rs1554651526
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-7_2dup9 rs1554651365
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins20 rs1554651471
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.25_43del19 rs1554651292
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.99_101delGCC rs1554651230
Single allele

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