NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)
|
rs145980033
|
0.00420
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)
|
rs202017613
|
0.00036
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
0.00029
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00024
|
NM_001171.6(ABCC6):c.2247+22T>G
|
rs72664298
|
0.00021
|
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)
|
rs201299366
|
0.00021
|
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
|
rs200269431
|
0.00020
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)
|
rs372168003
|
0.00016
|
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr)
|
rs201013312
|
0.00016
|
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)
|
rs371560228
|
0.00016
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)
|
rs200945986
|
0.00011
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser)
|
rs147707402
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)
|
rs545959971
|
0.00010
|
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)
|
rs146256515
|
0.00009
|
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp)
|
rs564438778
|
0.00008
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys)
|
rs755994602
|
0.00006
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)
|
rs367734857
|
0.00006
|
NM_020964.3(EPG5):c.2373C>T (p.Asp791=)
|
rs552419530
|
0.00005
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn)
|
rs780545355
|
0.00004
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00003
|
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys)
|
rs536675100
|
0.00003
|
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His)
|
rs758621844
|
0.00003
|
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile)
|
rs1211858750
|
0.00003
|
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp)
|
rs554758747
|
0.00003
|
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)
|
rs909339162
|
0.00003
|
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln)
|
rs267602452
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met)
|
rs760970028
|
0.00003
|
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
|
rs750355652
|
0.00002
|
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met)
|
rs764274123
|
0.00002
|
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys)
|
rs375809635
|
0.00002
|
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)
|
rs1373473541
|
0.00002
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
|
rs770645649
|
0.00001
|
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn)
|
rs760130069
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)
|
rs1203435642
|
0.00001
|
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser)
|
rs529549122
|
0.00001
|
NM_002161.6(IARS1):c.1358G>A (p.Arg453His)
|
rs570962385
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter)
|
rs755835919
|
0.00001
|
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln)
|
rs558798136
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_014425.5(INVS):c.962A>G (p.Glu321Gly)
|
rs749655348
|
0.00001
|
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met)
|
rs368088727
|
0.00001
|
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln)
|
rs764854489
|
0.00001
|
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys)
|
rs1335038702
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu)
|
rs754863487
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr)
|
rs778670384
|
0.00001
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp)
|
rs1564430115
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
|
rs61752098
|
|
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
|
rs763494719
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
|
|
|
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)
|
rs200665173
|
|
NM_000466.3(PEX1):c.2783+6T>C
|
rs1585224298
|
|
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)
|
rs773206107
|
|
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
|
rs1569078754
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del)
|
rs1569041188
|
|
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)
|
rs1555896093
|
|
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile)
|
rs537556482
|
|
NM_001195305.3(BBIP1):c.38-6071C>G
|
rs760064445
|
|
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp)
|
rs1553480410
|
|
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val)
|
rs1553906392
|
|
NM_001267550.2(TTN):c.39379+2T>G
|
rs1560102141
|
|
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)
|
rs776793953
|
|
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)
|
rs1555812473
|
|
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del)
|
rs778119853
|
|
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn)
|
rs1554137705
|
|
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal)
|
rs1553422036
|
|
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)
|
rs1560192615
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del)
|
rs753461629
|
|
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del)
|
rs770925540
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His)
|
rs1553405319
|
|
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)
|
rs1569920188
|
|
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser)
|
rs1559027696
|
|
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)
|
rs201433617
|
|
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn)
|
rs1553171928
|
|
NM_005529.7(HSPG2):c.4314+4A>T
|
rs1553166653
|
|
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)
|
rs767956337
|
|
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del)
|
rs777476390
|
|
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe)
|
rs1457758264
|
|
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)
|
rs758719669
|
|
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del)
|
rs1554105558
|
|
NM_013382.7(POMT2):c.334-3C>A
|
rs1566658848
|
|
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)
|
rs775587493
|
|
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp)
|
rs746252249
|
|
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del)
|
rs774299493
|
|
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup)
|
rs1555437965
|
|
NM_015046.7(SETX):c.5024del (p.Pro1675fs)
|
rs1554820021
|
|
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met)
|
rs117750374
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr)
|
rs1568017495
|
|
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)
|
rs201376188
|
|
NM_015404.4(WHRN):c.1469G>A (p.Arg490His)
|
rs587776360
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)
|
rs1568405628
|
|
NM_017739.4(POMGNT1):c.355-3T>G
|
rs1553163972
|
|
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu)
|
rs1553223646
|
|
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr)
|
rs1554953926
|
|
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr)
|
rs1463766241
|
|
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro)
|
rs1554393418
|
|
NM_020751.3(COG6):c.1746+2T>G
|
rs1555280464
|
|
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)
|
rs1554007320
|
|
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp)
|
rs1554007926
|
|
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser)
|
rs768996558
|
|
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
|
rs774076578
|
|
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
|
rs74162087
|
|
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp)
|
rs1585816128
|
|
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)
|
rs1457240197
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)
|
rs1338945655
|
|
NM_033028.5(BBS4):c.75dup (p.Ala26fs)
|
rs1567398832
|
|
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)
|
rs1574775353
|
|
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)
|
rs1574775779
|
|
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)
|
rs1559746613
|
|
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val)
|
rs764347046
|
|
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg)
|
rs1567391195
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)
|
rs936843937
|
|
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
|
rs963383651
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_182961.4(SYNE1):c.11083-4A>G
|
rs764920428
|
|
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro)
|
rs1593394821
|
|
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys)
|
rs1554768095
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly)
|
rs1564070652
|
|
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile)
|
rs1245972676
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr)
|
rs767743882
|
|
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs)
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rs1554931773
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