NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
|
rs774702094
|
0.00011
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
|
rs369973540
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)
|
rs121909543
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)
|
rs200849015
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
|
rs1196886096
|
0.00001
|
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)
|
rs761661253
|
0.00001
|
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter)
|
rs1322721879
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys)
|
rs376152274
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)
|
rs772475828
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_030954.4(RNF170):c.396+3A>G
|
rs1159600703
|
0.00001
|
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
|
rs1303930496
|
0.00001
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)
|
rs63750599
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
|
rs1554268521
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000390.4(CHM):c.116+1G>A
|
rs786204761
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
|
rs587776937
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter)
|
rs1268507778
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001034853.2(RPGR):c.29-1G>T
|
rs2067987832
|
|
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)
|
rs1060503101
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)
|
rs1554329317
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)
|
rs746860249
|
|
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
|
rs1740799305
|
|
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter)
|
rs1330115613
|
|
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)
|
rs1475000361
|
|
NM_001201543.2(FAM161A):c.1830del (p.Leu611fs)
|
rs1292802544
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)
|
rs1574994308
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)
|
rs1064794574
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)
|
rs1564816319
|
|
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
|
rs2033274775
|
|
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe)
|
rs869320709
|
|
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu)
|
rs1582323732
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)
|
rs1064793983
|
|
NM_001972.4(ELANE):c.170C>T (p.Ala57Val)
|
rs1057520110
|
|
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter)
|
rs2041990527
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
|
rs1447458978
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
|
rs771383153
|
|
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)
|
rs1781070341
|
|
NM_004181.5(UCHL1):c.64dup (p.Val22fs)
|
rs1781001592
|
|
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)
|
rs1941503926
|
|
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
|
rs2051858361
|
|
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs)
|
rs756970705
|
|
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
|
rs1830025657
|
|
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn)
|
rs57629991
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)
|
rs1553738686
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)
|
rs1569356550
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)
|
rs121434240
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006612.6(KIF1C):c.305G>C (p.Gly102Ala)
|
rs1974586605
|
|
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn)
|
rs121918584
|
|
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)
|
rs121918585
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
NM_006767.4(LZTR1):c.352dup (p.Arg118fs)
|
rs1486960809
|
|
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter)
|
rs1555669421
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg)
|
rs80358299
|
|
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)
|
rs1589088690
|
|
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
|
rs773064101
|
|
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)
|
rs122461161
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)
|
rs2071226510
|
|
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly)
|
rs1554504681
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015629.4(PRPF31):c.239-2A>G
|
rs1600334904
|
|
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)
|
rs775657157
|
|
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
|
rs771126523
|
|
NM_018294.6(CWF19L1):c.467del (p.Pro156fs)
|
rs879255654
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)
|
rs1554771469
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_025243.4(SLC19A3):c.597dup (p.His200fs)
|
rs773140674
|
|
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)
|
rs730880517
|
|
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)
|
rs1554700678
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter)
|
rs1555379968
|
|
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs)
|
rs778651218
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)
|
rs369488804
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)
|
rs879255264
|
|
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)
|
rs1553121073
|
|