NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
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_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_032520.5(GNPTG):c.742-1G>T
|
rs373976323
|
0.00003
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)
|
rs775034584
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000017.4(ACADS):c.107dup (p.Thr37fs)
|
rs750941135
|
0.00001
|
NM_000017.4(ACADS):c.1A>G (p.Met1Val)
|
rs1291226969
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)
|
rs764220898
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000051.4(ATM):c.7927+5del
|
rs786204437
|
|
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.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000128.4(F11):c.1481-1G>T
|
rs1057516506
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
|
|
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)
|
rs1057516730
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164508.2(NEB):c.5031+1G>A
|
rs1553495140
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_004628.5(XPC):c.2194dup (p.Leu732fs)
|
rs1309116467
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)
|
rs886048594
|
|
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)
|
rs1555225958
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|