NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_001752.4(CAT):c.903+5G>T
|
rs147912187
|
0.00169
|
NM_001486.4(GCKR):c.307G>A (p.Val103Met)
|
rs146175795
|
0.00151
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001112.4(ADARB1):c.1397-354A>G
|
rs544025652
|
0.00113
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)
|
rs142740233
|
0.00102
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_001098537.3(PNPLA7):c.3443G>A (p.Gly1148Glu)
|
rs141473646
|
0.00086
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)
|
rs145146218
|
0.00070
|
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly)
|
rs144822855
|
0.00069
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_152416.4(NDUFAF6):c.715-3C>A
|
rs200620409
|
0.00054
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly)
|
rs141995194
|
0.00034
|
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)
|
rs201107590
|
0.00031
|
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys)
|
rs138713603
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_018082.6(POLR3B):c.2817+30T>A
|
rs142517808
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_001813.3(CENPE):c.80C>T (p.Ala27Val)
|
rs533108216
|
0.00021
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys)
|
rs199899258
|
0.00017
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_000070.3(CAPN3):c.*534T>C
|
rs772498665
|
0.00016
|
NM_000157.4(GBA1):c.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)
|
rs187152753
|
0.00014
|
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr)
|
rs201012033
|
0.00014
|
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)
|
rs200971081
|
0.00013
|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)
|
rs201806410
|
0.00012
|
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)
|
rs776826330
|
0.00012
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_005868.6(BET1):c.134del (p.Ala45fs)
|
rs541754296
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)
|
rs147455037
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys)
|
rs749113504
|
0.00009
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)
|
rs368213717
|
0.00009
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)
|
rs730881019
|
0.00008
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
|
rs372435824
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)
|
rs757068809
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)
|
rs144063384
|
0.00006
|
NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu)
|
rs960519789
|
0.00006
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)
|
rs138305578
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)
|
rs781734224
|
0.00006
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu)
|
rs751818701
|
0.00005
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)
|
rs755177846
|
0.00005
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile)
|
rs535526499
|
0.00005
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000162.5(GCK):c.203G>A (p.Gly68Asp)
|
rs373418736
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)
|
rs375661583
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)
|
rs921423540
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)
|
rs145955590
|
0.00004
|
NM_001098537.3(PNPLA7):c.1889+1G>A
|
rs767961762
|
0.00004
|
NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn)
|
rs201622088
|
0.00004
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)
|
rs1028575136
|
0.00004
|
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)
|
rs587784326
|
0.00004
|
NM_003906.5(MCM3AP):c.4787G>A (p.Arg1596His)
|
rs541319271
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_007055.4(POLR3A):c.200G>A (p.Arg67His)
|
rs778357727
|
0.00004
|
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln)
|
rs781132110
|
0.00004
|
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)
|
rs371703979
|
0.00004
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu)
|
rs747433356
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)
|
rs368953286
|
0.00004
|
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)
|
rs761631813
|
0.00004
|
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
0.00004
|
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)
|
rs148759277
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro)
|
rs765713843
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000458.4(HNF1B):c.100C>T (p.Leu34=)
|
rs373201245
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)
|
rs777744290
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)
|
rs931374138
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)
|
rs761053549
|
0.00003
|
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)
|
rs368767696
|
0.00003
|
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)
|
rs144910769
|
0.00003
|
NM_003560.4(PLA2G6):c.1187-1G>A
|
rs1477656610
|
0.00003
|
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)
|
rs370691849
|
0.00003
|
NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser)
|
rs759625896
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)
|
rs752860146
|
0.00003
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)
|
rs377058108
|
0.00003
|
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)
|
rs201732170
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)
|
rs769672624
|
0.00002
|
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)
|
rs121912838
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)
|
rs730880437
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000540.3(RYR1):c.424+4C>A
|
rs772775579
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_001082971.2(DDC):c.476C>T (p.Ala159Val)
|
rs201828034
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)
|
rs773843633
|
0.00002
|
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)
|
rs139093920
|
0.00002
|
NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys)
|
rs778705470
|
0.00002
|
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val)
|
rs764957976
|
0.00002
|
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr)
|
rs1174447128
|
0.00002
|
NM_005993.5(TBCD):c.1087+5G>A
|
rs374775577
|
0.00002
|
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)
|
rs185479618
|
0.00002
|
NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe)
|
rs1361059674
|
0.00002
|
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His)
|
rs376405070
|
0.00002
|
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser)
|
rs192332506
|
0.00002
|
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)
|
rs200118797
|
0.00002
|
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)
|
rs778985686
|
0.00002
|
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)
|
rs201992354
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.1649+1G>A
|
rs752700398
|
0.00002
|
NM_018082.6(POLR3B):c.1857-12A>G
|
rs528038639
|
0.00002
|
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu)
|
rs775141057
|
0.00002
|
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg)
|
rs200865021
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro)
|
rs756008936
|
0.00002
|
NM_021831.6(AGBL5):c.842G>A (p.Arg281His)
|
rs1448861312
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
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_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
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.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro)
|
rs145817990
|
0.00001
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000156.6(GAMT):c.571-3C>G
|
rs1367661704
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)
|
rs774619760
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)
|
rs767100121
|
0.00001
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000169.3(GLA):c.212A>G (p.Glu71Gly)
|
rs781927744
|
0.00001
|
NM_000169.3(GLA):c.361G>A (p.Ala121Thr)
|
rs782197638
|
0.00001
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val)
|
rs139951191
|
0.00001
|
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys)
|
rs121908385
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
0.00001
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
NM_000237.3(LPL):c.809G>A (p.Arg270His)
|
rs118204062
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)
|
rs781658083
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000458.4(HNF1B):c.345-11T>G
|
rs200782591
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)
|
rs761683856
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)
|
rs780420237
|
0.00001
|
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)
|
rs1043661945
|
0.00001
|
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys)
|
rs749595299
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)
|
rs138145827
|
0.00001
|
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)
|
rs371807951
|
0.00001
|
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)
|
rs753702603
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)
|
rs775608608
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
NM_000545.8(HNF1A):c.503G>A (p.Arg168His)
|
rs377110124
|
0.00001
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)
|
rs573680102
|
0.00001
|
NM_001080483.3(MYMK):c.399+5G>A
|
rs755976471
|
0.00001
|
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs)
|
rs1386322306
|
0.00001
|
NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro)
|
rs1225241777
|
0.00001
|
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)
|
rs778818769
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr)
|
rs149686954
|
0.00001
|
NM_001164508.2(NEB):c.294+1G>A
|
rs759956258
|
0.00001
|
NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=)
|
rs782121738
|
0.00001
|
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)
|
rs750832804
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His)
|
rs769424345
|
0.00001
|
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly)
|
rs764097811
|
0.00001
|
NM_001352754.2(ARMC9):c.1307T>C (p.Leu436Pro)
|
rs925676705
|
0.00001
|
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)
|
rs754136527
|
0.00001
|
NM_001358921.2(COQ2):c.253+4A>T
|
rs907149421
|
0.00001
|
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg)
|
rs1650946025
|
0.00001
|
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515
|
0.00001
|
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn)
|
rs751941551
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
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.4246C>A (p.Gln1416Lys)
|
rs765215862
|
0.00001
|
NM_001384140.1(PCDH15):c.92-528C>T
|
rs190773725
|
0.00001
|
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val)
|
rs576883816
|
0.00001
|
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg)
|
rs566588740
|
0.00001
|
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys)
|
rs375234125
|
0.00001
|
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu)
|
rs774187768
|
0.00001
|
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)
|
rs1689781072
|
0.00001
|
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)
|
rs757453900
|
0.00001
|
NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro)
|
rs769287941
|
0.00001
|
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)
|
rs769000561
|
0.00001
|
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe)
|
rs587784331
|
0.00001
|
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro)
|
rs1356679312
|
0.00001
|
NM_003560.4(PLA2G6):c.1591+5G>C
|
rs1064796469
|
0.00001
|
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)
|
rs587784337
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)
|
rs754204295
|
0.00001
|
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys)
|
rs1048444597
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)
|
rs751225193
|
0.00001
|
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly)
|
rs746405809
|
0.00001
|
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)
|
rs121908682
|
0.00001
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
NM_003835.4(RGS9):c.458A>G (p.Tyr153Cys)
|
rs755034844
|
0.00001
|
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)
|
rs776926045
|
0.00001
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys)
|
rs752945140
|
0.00001
|
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)
|
rs754024503
|
0.00001
|
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu)
|
rs1376071051
|
0.00001
|
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
|
rs137853102
|
0.00001
|
NM_005327.7(HADH):c.406A>G (p.Lys136Glu)
|
rs1262186453
|
0.00001
|
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)
|
rs376439188
|
0.00001
|
NM_005993.5(TBCD):c.2789A>G (p.His930Arg)
|
rs775950678
|
0.00001
|
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)
|
rs373279555
|
0.00001
|
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg)
|
rs768880752
|
0.00001
|
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln)
|
rs753456807
|
0.00001
|
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn)
|
rs779315061
|
0.00001
|
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys)
|
rs755165065
|
0.00001
|
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu)
|
rs1211210077
|
0.00001
|
NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp)
|
rs775160820
|
0.00001
|
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln)
|
rs763270865
|
0.00001
|
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser)
|
rs1003620056
|
0.00001
|
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)
|
rs757209071
|
0.00001
|
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)
|
rs267608680
|
0.00001
|
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu)
|
rs80357031
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_014444.5(TUBGCP4):c.1597-11A>G
|
rs1471253381
|
0.00001
|
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg)
|
rs1660302910
|
0.00001
|
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)
|
rs757728167
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)
|
rs573518562
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met)
|
rs1239939744
|
0.00001
|
NM_017752.3(TBC1D8B):c.1316T>G (p.Phe439Cys)
|
rs1223251037
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_018082.6(POLR3B):c.1464+1G>A
|
rs1158662109
|
0.00001
|
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe)
|
rs1171962004
|
0.00001
|
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn)
|
rs781671613
|
0.00001
|
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)
|
rs756536922
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro)
|
rs749670593
|
0.00001
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr)
|
rs765382317
|
0.00001
|
NM_018941.4(CLN8):c.416A>G (p.His139Arg)
|
rs1195769874
|
0.00001
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)
|
rs780882740
|
0.00001
|
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)
|
rs1468976582
|
0.00001
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys)
|
rs765368764
|
0.00001
|
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp)
|
rs757446463
|
0.00001
|
NM_020451.3(SELENON):c.976G>A (p.Val326Ile)
|
rs764032922
|
0.00001
|
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu)
|
rs766193452
|
0.00001
|
NM_024649.5(BBS1):c.592-21A>T
|
rs754794374
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)
|
rs774806370
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_033100.4(CDHR1):c.862+4A>C
|
rs1352559639
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)
|
rs781071853
|
0.00001
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs)
|
rs1584279870
|
0.00001
|
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys)
|
rs1313698326
|
0.00001
|
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro)
|
rs771718467
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu)
|
rs779336736
|
0.00001
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg)
|
rs762062274
|
0.00001
|
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)
|
rs768905244
|
0.00001
|
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter)
|
rs773498177
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser)
|
rs1459697236
|
0.00001
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
|
|
|
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
|
|
|
GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1
|
|
|
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1
|
|
|
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
|
|
|
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
|
|
|
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
|
|
|
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
|
|
|
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
|
|
|
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
|
|
|
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
|
|
|
NC_000006.12:g.106539151_106629957del
|
|
|
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)
|
rs1598265282
|
|
NM_000023.4(SGCA):c.37+5G>T
|
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr)
|
rs1597438977
|
|
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)
|
rs866769874
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1354+129T>A
|
|
|
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe)
|
rs1595819812
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)
|
rs794727615
|
|
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)
|
rs1595822648
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
|
rs776882059
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro)
|
rs1566976644
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000156.6(GAMT):c.440_441del (p.His147fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.491G>T (p.Gly164Val)
|
rs760101382
|
|
NM_000156.6(GAMT):c.609dup (p.Arg204fs)
|
rs745740974
|
|
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)
|
rs1443859067
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)
|
rs794727708
|
|
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)
|
rs781152868
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile)
|
rs1376631949
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)
|
rs193929374
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
NM_000162.5(GCK):c.440G>A (p.Gly147Asp)
|
rs193922296
|
|
NM_000162.5(GCK):c.577G>C (p.Gly193Arg)
|
rs376050856
|
|
NM_000162.5(GCK):c.709G>A (p.Glu237Lys)
|
rs1176858193
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.773G>A (p.Gly258Asp)
|
rs747662793
|
|
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
|
|
|
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)
|
rs144994244
|
|
NM_000169.3(GLA):c.937G>A (p.Asp313Asn)
|
rs28935490
|
|
NM_000169.3(GLA):c.989A>G (p.Gln330Arg)
|
rs869312161
|
|
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
|
rs748106098
|
|
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)
|
rs1302271283
|
|
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys)
|
rs1467653379
|
|
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly)
|
rs376557022
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000237.3(LPL):c.784C>T (p.Gln262Ter)
|
rs1297688787
|
|
NM_000252.3(MTM1):c.136+172T>C
|
|
|
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro)
|
rs1595074765
|
|
NM_000257.4(MYH7):c.5655+4A>T
|
|
|
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser)
|
rs747310316
|
|
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile)
|
rs746285672
|
|
NM_000283.4(PDE6B):c.1107+219G>A
|
|
|
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys)
|
rs1263635426
|
|
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val)
|
rs766049601
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000329.3(RPE65):c.922_924del (p.Pro308del)
|
rs756125943
|
|
NM_000335.5(SCN5A):c.3065C>A (p.Thr1022Asn)
|
rs2061573479
|
|
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
|
|
|
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
|
|
|
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
|
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
|
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3330-13G>A
|
|
|
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
|
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
|
|
|
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
|
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
|
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
|
|
|
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
|
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
|
|
|
NM_000376.3(VDR):c.227G>T (p.Cys76Phe)
|
rs1565618291
|
|
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
|
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)
|
rs2113582384
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)
|
rs767576616
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
NM_000489.6(ATRX):c.1974T>G (p.Arg658=)
|
rs1603222314
|
|
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro)
|
rs1569531570
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000539.3(RHO):c.568G>C (p.Asp190His)
|
rs104893779
|
|
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14647-3C>G
|
rs1974401494
|
|
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
|
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)
|
rs1568465251
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)
|
rs2145677238
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)
|
rs747433197
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)
|
rs1353807357
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)
|
rs539507291
|
|
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)
|
rs267603343
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu)
|
rs1567219166
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg)
|
rs1580526653
|
|
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln)
|
rs1596361132
|
|
NM_001018005.2(TPM1):c.772+17T>A
|
rs1596386853
|
|
NM_001029.5(RPS26):c.182-16_182-4del
|
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001032.5(RPS29):c.63-6T>G
|
rs1594573747
|
|
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
|
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
|
|
|
NM_001034853.2(RPGR):c.470-13T>G
|
|
|
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)
|
rs786205273
|
|
NM_001039591.3(USP9X):c.771-2A>G
|
|
|
NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys)
|
rs1570434132
|
|
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu)
|
rs1581496432
|
|
NM_001070.5(TUBG1):c.618C>G (p.Asp206Glu)
|
rs1200312178
|
|
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg)
|
rs1567441193
|
|
NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg)
|
rs1566001519
|
|
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val)
|
rs2102736424
|
|
NM_001101.5(ACTB):c.1063_1082del (p.Met355fs)
|
rs2128241165
|
|
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
|
rs1472549168
|
|
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser)
|
rs61730207
|
|
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)
|
rs151340624
|
|
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)
|
rs1573811118
|
|
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)
|
rs1573929182
|
|
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)
|
rs767788624
|
|
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)
|
rs1572921644
|
|
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)
|
rs1336670524
|
|
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)
|
rs1573176526
|
|
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)
|
rs1573658295
|
|
NM_001130987.2(DYSF):c.951+3_951+4del
|
rs1573663867
|
|
NM_001134673.4(NFIA):c.1132C>T (p.Gln378Ter)
|
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)
|
rs950101299
|
|
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)
|
rs1572996700
|
|
NM_001142800.2(EYS):c.7899-8A>G
|
rs1769675220
|
|
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met)
|
rs1555663997
|
|
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)
|
|
|
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
|
|
|
NM_001164508.2(NEB):c.11805+2T>A
|
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
|
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.24115-151C>A
|
rs1575076895
|
|
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys)
|
rs1575122611
|
|
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
|
|
|
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu)
|
rs1592198426
|
|
NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)
|
|
|
NM_001195553.2(DCX):c.706-2794G>A
|
|
|
NM_001197104.2(KMT2A):c.11072-1G>A
|
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser)
|
|
|
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
|
|
|
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
|
|
|
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
|
|
|
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
|
|
|
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
|
|
|
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu)
|
rs2135487981
|
|
NM_001267550.2(TTN):c.104092del (p.Arg34698fs)
|
|
|
NM_001267550.2(TTN):c.16055-3C>G
|
|
|
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser)
|
rs1577672002
|
|
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs)
|
rs2064831878
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
|
|
|
NM_001267550.2(TTN):c.99716del (p.Asn33239fs)
|
|
|
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
|
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001272071.2(AP1S2):c.*241A>C
|
|
|
NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)
|
rs1591299258
|
|
NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs)
|
|
|
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe)
|
rs1955571784
|
|
NM_001291303.3(FAT4):c.13582dup (p.Cys4528fs)
|
|
|
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn)
|
rs1596974089
|
|
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg)
|
rs773593999
|
|
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
|
|
|
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
|
|
|
NM_001318510.2(ACSL4):c.332C>A (p.Thr111Asn)
|
rs1412919038
|
|
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
|
rs751046231
|
|
NM_001321120.2(TBX4):c.401+3A>T
|
rs574516876
|
|
NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys)
|
rs1829302172
|
|
NM_001349338.3(FOXP1):c.1146+5G>C
|
rs1553678368
|
|
NM_001351132.2(PEX5):c.140_147+36del
|
|
|
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)
|
rs759799287
|
|
NM_001352754.2(ARMC9):c.51+5G>T
|
rs1114167447
|
|
NM_001354768.3(NRL):c.559C>A (p.Leu187Met)
|
rs35984106
|
|
NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)
|
|
|
NM_001355221.1(TUBA4B):c.12+147G>C
|
|
|
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)
|
rs121918649
|
|
NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)
|
|
|
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu)
|
rs1602353928
|
|
NM_001368882.1(COL13A1):c.549+5G>A
|
rs2134524471
|
|
NM_001368882.1(COL13A1):c.576+5G>A
|
rs2060807560
|
|
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
|
|
|
NM_001374504.1(TMPRSS6):c.836+1G>A
|
|
|
NM_001375524.1(TRRAP):c.1562_1563insT (p.Ala522fs)
|
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
|
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
|
|
|
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
|
|
|
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
|
|
|
NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)
|
rs762363509
|
|
NM_001395058.1(MYO15B):c.2651+2T>A
|
|
|
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
|
|
|
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
|
|
|
NM_001458.5(FLNC):c.700-2A>G
|
|
|
NM_001458.5(FLNC):c.7588A>T (p.Thr2530Ser)
|
rs760694025
|
|
NM_001673.5(ASNS):c.1235A>G (p.His412Arg)
|
rs201394816
|
|
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu)
|
rs2115707912
|
|
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
|
|
|
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.736-6T>C
|
|
|
NM_001849.4(COL6A2):c.955-3C>G
|
rs1208931749
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
|
|
|
NM_001927.4(DES):c.500A>G (p.Glu167Gly)
|
rs1575013470
|
|
NM_001961.4(EEF2):c.442del (p.Ala148fs)
|
|
|
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
|
|
|
NM_002144.4(HOXB1):c.764G>A (p.Arg255Gln)
|
rs1567932264
|
|
NM_002161.6(IARS1):c.2229+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
|
|
|
NM_002292.4(LAMB2):c.511A>C (p.Thr171Pro)
|
rs1560077016
|
|
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
|
|
|
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr)
|
rs1327830771
|
|
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu)
|
rs1566505007
|
|
NM_002529.4(NTRK1):c.1796_1799dup (p.Phe600fs)
|
|
|
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu)
|
rs1602902855
|
|
NM_002778.4(PSAP):c.613_615dup (p.Val205dup)
|
rs1589451004
|
|
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
|
|
|
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)
|
rs1057517665
|
|
NM_003124.5(SPR):c.80T>C (p.Leu27Pro)
|
rs1559047972
|
|
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe)
|
rs121918639
|
|
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
|
|
|
NM_003322.6(TULP1):c.1113-9_1113delinsCATC
|
rs2150924300
|
|
NM_003322.6(TULP1):c.5C>A (p.Pro2His)
|
rs1174952138
|
|
NM_003322.6(TULP1):c.890G>C (p.Arg297Pro)
|
rs777674253
|
|
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
|
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)
|
rs1943099362
|
|
NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)
|
|
|
NM_003560.4(PLA2G6):c.1078-3C>A
|
|
|
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)
|
|
|
NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)
|
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)
|
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg)
|
rs547175863
|
|
NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)
|
|
|
NM_003560.4(PLA2G6):c.2202+5G>A
|
rs587784348
|
|
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
|
|
|
NM_003560.4(PLA2G6):c.2277-2A>C
|
rs552606315
|
|
NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro)
|
rs893021938
|
|
NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)
|
|
|
NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)
|
|
|
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala)
|
rs1602184043
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)
|
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)
|
rs745643715
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_003722.5(TP63):c.191+5G>C
|
rs1553824695
|
|
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
|
|
|
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs)
|
rs747306849
|
|
NM_004006.3(DMD):c.6438+88106A>G
|
|
|
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr)
|
rs201621364
|
|
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr)
|
rs1057520111
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004370.6(COL12A1):c.8319+5G>A
|
|
|
NM_004429.5(EFNB1):c.406+4A>G
|
|
|
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
|
|
|
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
|
|
|
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
|
|
|
NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr)
|
rs775313529
|
|
NM_004646.4(NPHS1):c.2506+5G>T
|
rs762704370
|
|
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp)
|
rs142253030
|
|
NM_004722.4(AP4M1):c.974+115dup
|
|
|
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
|
|
|
NM_004928.3(CFAP410):c.143+3A>T
|
|
|
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)
|
rs864309724
|
|
NM_005045.4(RELN):c.5615-102A>G
|
|
|
NM_005087.4(FXR1):c.1603+733del
|
rs769011065
|
|
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu)
|
rs1721862059
|
|
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp)
|
rs1721905984
|
|
NM_005215.4(DCC):c.3620-2A>G
|
rs1292231805
|
|
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
|
|
|
NM_005246.4(FER):c.1887A>C (p.Gln629His)
|
|
|
NM_005324.5(H3-3B):c.354C>A (p.Val118=)
|
rs766432479
|
|
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
NM_005327.7(HADH):c.710-822C>A
|
rs183387994
|
|
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
|
|
|
NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu)
|
rs962267864
|
|
NM_005654.6(NR2F1):c.463+6T>C
|
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr)
|
rs2125077498
|
|
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
|
|
|
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
|
|
|
NM_005868.6(BET1):c.202G>C (p.Asp68His)
|
rs1562806584
|
|
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
|
|
|
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr)
|
rs1962535460
|
|
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)
|
rs770293321
|
|
NM_005993.5(TBCD):c.2100del (p.Ile700fs)
|
rs2061363316
|
|
NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg)
|
rs1568053442
|
|
NM_005993.5(TBCD):c.951-2A>G
|
rs2050922982
|
|
NM_005996.4(TBX3):c.830A>C (p.Asn277Thr)
|
|
|
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
|
|
|
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
|
|
|
NM_006009.4(TUBA1A):c.1136G>A (p.Ser379Asn)
|
|
|
NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)
|
|
|
NM_006059.4(LAMC3):c.2726A>G (p.Gln909Arg)
|
rs1160626988
|
|
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
|
|
|
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
|
|
|
NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser)
|
|
|
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
|
|
|
NM_006204.4(PDE6C):c.1413+3A>T
|
|
|
NM_006306.4(SMC1A):c.3507+5G>A
|
|
|
NM_006348.5(COG5):c.959T>C (p.Leu320Pro)
|
rs1584729488
|
|
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)
|
rs1911322255
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp)
|
rs2151108985
|
|
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)
|
rs2154034738
|
|
NM_006617.2(NES):c.23A>T (p.Glu8Val)
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)
|
rs201553627
|
|
NM_006623.4(PHGDH):c.511-5A>G
|
|
|
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu)
|
rs1567254950
|
|
NM_006852.6(TLK2):c.163A>G (p.Lys55Glu)
|
rs774263147
|
|
NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)
|
|
|
NM_007055.4(POLR3A):c.*18C>T
|
rs1248039821
|
|
NM_007055.4(POLR3A):c.1031G>T (p.Arg344Leu)
|
|
|
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu)
|
rs1428468560
|
|
NM_007055.4(POLR3A):c.1451G>A (p.Arg484Gln)
|
|
|
NM_007055.4(POLR3A):c.1572+1G>T
|
rs141484643
|
|
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg)
|
rs762708292
|
|
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe)
|
rs751735990
|
|
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe)
|
rs746116821
|
|
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)
|
rs374831450
|
|
NM_007055.4(POLR3A):c.2425G>C (p.Val809Leu)
|
|
|
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)
|
rs1399429058
|
|
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg)
|
rs748548960
|
|
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu)
|
rs747257894
|
|
NM_007055.4(POLR3A):c.2988+1G>A
|
rs201733323
|
|
NM_007055.4(POLR3A):c.2988+1G>T
|
rs201733323
|
|
NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del)
|
rs780755978
|
|
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)
|
rs373306216
|
|
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)
|
rs768222183
|
|
NM_007055.4(POLR3A):c.4025-1G>A
|
|
|
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser)
|
rs778865072
|
|
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr)
|
rs1600416892
|
|
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)
|
rs1328780843
|
|
NM_007347.5(AP4E1):c.1429+1G>T
|
|
|
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup)
|
rs1588218148
|
|
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser)
|
rs762907412
|
|
NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu)
|
|
|
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp)
|
rs1842359062
|
|
NM_012463.4(ATP6V0A2):c.2176-10TC[2]
|
rs1593920665
|
|
NM_013382.7(POMT2):c.1248C>G (p.His416Gln)
|
rs1566649375
|
|
NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=)
|
rs1404200133
|
|
NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro)
|
rs2102536303
|
|
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)
|
rs1575757363
|
|
NM_014370.4(SRPK3):c.749-2A>G
|
|
|
NM_014669.5(NUP93):c.1463A>G (p.His488Arg)
|
rs1596856296
|
|
NM_014669.5(NUP93):c.2079G>C (p.Leu693Phe)
|
rs1334928223
|
|
NM_014714.4(IFT140):c.304C>T (p.His102Tyr)
|
rs1596461586
|
|
NM_015047.3(EMC1):c.2588-771C>G
|
|
|
NM_015100.4(POGZ):c.3837del (p.Lys1279fs)
|
|
|
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)
|
rs1569244190
|
|
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)
|
rs768711345
|
|
NM_015271.5(TRIM2):c.790del (p.Leu264fs)
|
|
|
NM_015289.5(VPS39):c.442-2A>G
|
|
|
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr)
|
rs2037467316
|
|
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile)
|
rs2041587108
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del)
|
rs2148496996
|
|
NM_015681.6(B9D1):c.338G>C (p.Gly113Ala)
|
rs2152261827
|
|
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
|
rs1647600390
|
|
NM_016023.5(OTUD6B):c.692T>C (p.Leu231Pro)
|
|
|
NM_016023.5(OTUD6B):c.776C>A (p.Ser259Ter)
|
|
|
NM_016038.4(SBDS):c.128+3G>C
|
|
|
NM_016077.5(PTRH2):c.515_516del (p.Val172fs)
|
|
|
NM_016213.5(TRIP4):c.1065del (p.Ile356fs)
|
rs1891833492
|
|
NM_016261.4(TUBD1):c.280T>C (p.Phe94Leu)
|
|
|
NM_016373.4(WWOX):c.410G>T (p.Gly137Val)
|
rs761879076
|
|
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs)
|
rs1596646165
|
|
NM_016580.4(PCDH12):c.838G>T (p.Glu280Ter)
|
rs1753196023
|
|
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
|
|
|
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
|
|
|
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)
|
rs1029077401
|
|
NM_017534.6(MYH2):c.904+1G>C
|
|
|
NM_017588.3(WDR5):c.354+2dup
|
|
|
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys)
|
rs2124577339
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)
|
rs2148194204
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1212-3_1212-2del
|
rs1064797111
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1489C>G (p.Arg497Gly)
|
|
|
NM_017739.4(POMGNT1):c.1502T>C (p.Phe501Ser)
|
rs727502852
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
|
|
|
NM_017739.4(POMGNT1):c.653-2del
|
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
|
|
|
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
|
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)
|
|
|
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
|
|
|
NM_018082.6(POLR3B):c.1627+7A>G
|
|
|
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser)
|
rs758867273
|
|
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
|
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
NM_018116.4(MSTO1):c.1433A>G (p.Tyr478Cys)
|
rs1210628887
|
|
NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser)
|
rs1674934230
|
|
NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly)
|
rs1674285118
|
|
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val)
|
rs2125105601
|
|
NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)
|
|
|
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)
|
rs1265362913
|
|
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
|
|
|
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
|
|
|
NM_018684.4(ZC4H2):c.561+7G>A
|
rs1929057022
|
|
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs)
|
rs1592708249
|
|
NM_018941.4(CLN8):c.637del (p.Trp213fs)
|
rs2129015232
|
|
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
|
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
|
|
|
NM_019892.6(INPP5E):c.1159+16_1159+33del
|
rs1239490197
|
|
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)
|
rs1564431175
|
|
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)
|
rs1300890772
|
|
NM_020338.4(ZMIZ1):c.1612_1613dup (p.Pro539fs)
|
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp)
|
rs1571908096
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
NM_020451.3(SELENON):c.1388-1G>C
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
|
|
|
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
|
|
|
NM_020451.3(SELENON):c.872+2T>C
|
rs794727808
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
|
|
|
NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg)
|
rs1599254675
|
|
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly)
|
rs2132799619
|
|
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro)
|
rs2132852977
|
|
NM_020738.4(KIDINS220):c.3529-5G>T
|
|
|
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr)
|
rs1592332125
|
|
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)
|
rs1208074975
|
|
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr)
|
rs768220615
|
|
NM_021224.6(ZNF462):c.2926A>G (p.Thr976Ala)
|
|
|
NM_021224.6(ZNF462):c.5771G>A (p.Arg1924His)
|
|
|
NM_021728.4(OTX2):c.677_678insTGTG (p.Leu227fs)
|
|
|
NM_021729.6(VPS11):c.2557A>G (p.Ser853Gly)
|
rs1565746289
|
|
NM_022041.4(GAN):c.1503-2A>G
|
|
|
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
|
|
|
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
|
|
|
NM_022081.6(HPS4):c.461A>G (p.His154Arg)
|
rs281865098
|
|
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
|
|
|
NM_022095.4(ZNF335):c.201+85G>A
|
|
|
NM_022455.5(NSD1):c.3922-9T>A
|
|
|
NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs)
|
|
|
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
|
|
|
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu)
|
rs1294549037
|
|
NM_024773.3(KDM8):c.1086+14_1086+21del
|
rs773887912
|
|
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)
|
rs1553770577
|
|
NM_025114.4(CEP290):c.4705-2A>C
|
rs2137170380
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)
|
rs199970847
|
|
NM_031263.4(HNRNPK):c.1361+7T>G
|
|
|
NM_031263.4(HNRNPK):c.214-6A>G
|
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_031885.5(BBS2):c.851A>T (p.Asn284Ile)
|
rs377749641
|
|
NM_031885.5(BBS2):c.940+3A>C
|
rs2144150079
|
|
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)
|
rs747083630
|
|
NM_032525.3(TUBB6):c.1228G>A (p.Glu410Lys)
|
|
|
NM_032525.3(TUBB6):c.375G>C (p.Glu125Asp)
|
|
|
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys)
|
rs1589568530
|
|
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)
|
rs1589441679
|
|
NM_032709.3(PYROXD2):c.1062+2T>G
|
|
|
NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly)
|
rs1776724608
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
|
|
|
NM_052867.4(NALCN):c.2364+4A>T
|
rs2139645297
|
|
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
|
|
|
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
|
|
|
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)
|
rs1638552845
|
|
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)
|
rs533071750
|
|
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro)
|
rs2109460739
|
|
NM_144499.3(GNAT1):c.508G>T (p.Val170Leu)
|
rs149647295
|
|
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)
|
rs1568572298
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly)
|
rs1594865341
|
|
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr)
|
rs1594865719
|
|
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val)
|
rs1558417340
|
|
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup)
|
rs1562582216
|
|
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del)
|
rs1228744373
|
|
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg)
|
rs1191958022
|
|
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln)
|
rs896249235
|
|
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro)
|
rs1554554236
|
|
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu)
|
rs1554561389
|
|
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)
|
rs1064793681
|
|
NM_173630.4(RTTN):c.5186-1G>C
|
|
|
NM_173630.4(RTTN):c.6154-16_6154-13del
|
rs765143937
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
|
|
|
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)
|
rs765237979
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_176795.5(HRAS):c.500dup (p.Pro169fs)
|
rs35613389
|
|
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile)
|
rs1311732049
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys)
|
rs747526311
|
|
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val)
|
rs777563695
|
|
NM_177550.5(SLC13A5):c.716+5G>A
|
rs1057518298
|
|
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile)
|
rs1249678588
|
|
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
|
|
|
NM_178014.4(TUBB):c.852del (p.Thr285fs)
|
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys)
|
rs1554534086
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
|
|
|
NM_181789.4(GLDN):c.363+1G>A
|
rs556661550
|
|
NM_182931.3(KMT2E):c.1239del (p.Asn414fs)
|
rs1584768283
|
|
NM_182931.3(KMT2E):c.1603del (p.Leu535fs)
|
rs1584783327
|
|
NM_182931.3(KMT2E):c.167del (p.Tyr56fs)
|
rs1584745301
|
|
NM_182931.3(KMT2E):c.1812del (p.Ile605fs)
|
rs1584796727
|
|
NM_182931.3(KMT2E):c.280del (p.Thr94fs)
|
rs1584746915
|
|
NM_182931.3(KMT2E):c.3193_3230del (p.Ser1065fs)
|
rs1584805738
|
|
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs)
|
rs1584805745
|
|
NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs)
|
rs1584807875
|
|
NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser)
|
rs1584816566
|
|
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)
|
rs74375534
|
|
NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs)
|
rs1584817845
|
|
NM_182931.3(KMT2E):c.450del (p.Asp150fs)
|
rs1584751179
|
|
NM_182931.3(KMT2E):c.4829del (p.Leu1610fs)
|
rs1243172283
|
|
NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs)
|
rs1584821980
|
|
NM_182931.3(KMT2E):c.556+1G>A
|
rs1584761229
|
|
NM_182931.3(KMT2E):c.850T>C (p.Tyr284His)
|
rs868001076
|
|
NM_182931.3(KMT2E):c.997del (p.Glu333fs)
|
rs1584765943
|
|
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)
|
rs762873672
|
|
NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)
|
|
|
NM_198535.3(ZNF699):c.175+1G>A
|
rs749115647
|
|
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)
|
rs772819260
|
|
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
|
|
|
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
|
rs587783653
|
|
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter)
|
rs2148657996
|
|
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu)
|
rs1572531765
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)
|
rs1026326311
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_207037.2(TCF12):c.1991del (p.Asn664fs)
|
|
|
NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)
|
|
|
NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp)
|
rs2103649867
|
|
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)
|
rs1233836740
|
|
NM_213599.3(ANO5):c.395A>T (p.Lys132Met)
|
rs1852872996
|
|
Single allele
|
|
|