NM_000211.5(ITGB2):c.1062= (p.His354=)
|
rs235330
|
0.99991
|
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
|
rs4836822
|
0.84114
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)
|
rs4837768
|
0.70962
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_194248.3(OTOF):c.2736G>C (p.Leu912=)
|
rs4335905
|
0.56927
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
|
rs1057090
|
0.44044
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)
|
rs3762271
|
0.30411
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)
|
rs41310927
|
0.30288
|
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)
|
rs41310925
|
0.30222
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_000271.5(NPC1):c.1926= (p.Met642=)
|
rs1788799
|
0.26043
|
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)
|
rs6676084
|
0.25582
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
NM_000211.5(ITGB2):c.1101C>A (p.Val367=)
|
rs2230529
|
0.23426
|
NM_000211.5(ITGB2):c.819G>A (p.Gly273=)
|
rs2230528
|
0.21986
|
NM_000211.5(ITGB2):c.24G>T (p.Leu8=)
|
rs11088969
|
0.20978
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000211.5(ITGB2):c.500-11G>T
|
rs55865320
|
0.16920
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
NM_000211.5(ITGB2):c.742-13G>A
|
rs5030670
|
0.12263
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)
|
rs4732748
|
0.10090
|
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala)
|
rs17402892
|
0.10073
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_000211.5(ITGB2):c.58+12G>A
|
rs2280965
|
0.09186
|
NM_194248.3(OTOF):c.945G>A (p.Lys315=)
|
rs41288779
|
0.07420
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)
|
rs12138336
|
0.04915
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04640
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_018136.5(ASPM):c.1977T>C (p.Ile659=)
|
rs17550662
|
0.04184
|
NM_194248.3(OTOF):c.4677G>A (p.Val1559=)
|
rs2272071
|
0.03875
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
|
rs13004993
|
0.03023
|
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu)
|
rs34523498
|
0.02942
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
|
rs72853741
|
0.02727
|
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_018451.5(CENPJ):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02151
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001145809.2(MYH14):c.3468-3C>T
|
rs78192108
|
0.01724
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)
|
rs80356573
|
0.01570
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro)
|
rs80356574
|
0.01529
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)
|
rs61747275
|
0.01514
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly)
|
rs6428388
|
0.01455
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000243.3(MEFV):c.911-78T>C
|
rs11466021
|
0.01123
|
NM_018136.5(ASPM):c.2805T>C (p.Ser935=)
|
rs113161395
|
0.01101
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_194248.3(OTOF):c.1723G>A (p.Val575Met)
|
rs55676840
|
0.00781
|
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro)
|
rs41296081
|
0.00774
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
NM_004447.6(EPS8):c.104A>G (p.His35Arg)
|
rs71532816
|
0.00631
|
NM_000243.3(MEFV):c.1260+92G>A
|
rs104895209
|
0.00590
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)
|
rs61753389
|
0.00503
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)
|
rs144610086
|
0.00403
|
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His)
|
rs35909061
|
0.00402
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser)
|
rs61756286
|
0.00127
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_000243.3(MEFV):c.1792+39G>A
|
rs104895176
|
0.00115
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu)
|
rs139491074
|
0.00078
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_001009994.3(RIPPLY2):c.240-4T>G
|
rs370933531
|
0.00074
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
|
rs144206271
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)
|
rs147139414
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)
|
rs143053635
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu)
|
rs140218677
|
0.00053
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly)
|
rs34177811
|
0.00039
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)
|
rs41306027
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)
|
rs41300592
|
0.00025
|
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)
|
rs200635860
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)
|
rs151078477
|
0.00024
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000243.3(MEFV):c.1760-28T>A
|
rs104895169
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
|
rs760909426
|
0.00020
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr)
|
rs201213000
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_030928.4(CDT1):c.1154G>A (p.Arg385His)
|
rs143840572
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)
|
rs281865548
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_001122769.3(LCA5):c.521G>A (p.Arg174His)
|
rs144016257
|
0.00014
|
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
|
rs117557829
|
0.00014
|
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His)
|
rs571684398
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)
|
rs550420394
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00012
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_003630.3(PEX3):c.915C>A (p.Asp305Glu)
|
rs201981448
|
0.00011
|
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys)
|
rs370311628
|
0.00011
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His)
|
rs151106439
|
0.00011
|
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val)
|
rs375178454
|
0.00011
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)
|
rs757541406
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)
|
rs782544250
|
0.00010
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His)
|
rs773154902
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)
|
rs572177274
|
0.00008
|
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)
|
rs140785361
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)
|
rs104895185
|
0.00007
|
NM_000243.3(MEFV):c.663G>C (p.Pro221=)
|
rs104895162
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)
|
rs3766317
|
0.00007
|
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter)
|
rs371465450
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_153700.2(STRC):c.379C>T (p.Arg127Ter)
|
rs771264491
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)
|
rs281865414
|
0.00006
|
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser)
|
rs754079735
|
0.00006
|
NM_004525.3(LRP2):c.2540G>A (p.Arg847His)
|
rs537125368
|
0.00006
|
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)
|
rs773052587
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
|
rs202009944
|
0.00006
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu)
|
rs149188892
|
0.00005
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
|
rs767337582
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)
|
rs375938350
|
0.00005
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)
|
rs761428295
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)
|
rs369581930
|
0.00005
|
NM_000243.3(MEFV):c.*21C>G
|
rs104895200
|
0.00004
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)
|
rs104895161
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000553.6(WRN):c.197C>T (p.Ser66Leu)
|
rs756575284
|
0.00004
|
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr)
|
rs370362292
|
0.00004
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)
|
rs140929996
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001267550.2(TTN):c.34930+2T>C
|
rs749252830
|
0.00004
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00004
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr)
|
rs565501407
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)
|
rs536732038
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser)
|
rs373445028
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_005422.4(TECTA):c.4180C>A (p.Leu1394Met)
|
rs776389341
|
0.00004
|
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)
|
rs773981726
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_018249.6(CDK5RAP2):c.1855G>A (p.Glu619Lys)
|
rs373775777
|
0.00004
|
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)
|
rs201258663
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)
|
rs376095522
|
0.00004
|
NM_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_201384.3(PLEC):c.265-9T>G
|
rs376483549
|
0.00004
|
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
|
rs1200134985
|
0.00003
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu)
|
rs104895107
|
0.00003
|
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.2229C>T (p.Phe743=)
|
rs104895152
|
0.00003
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp)
|
rs374278186
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000288.4(PEX7):c.803+5A>G
|
rs759078908
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr)
|
rs397508300
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)
|
rs397508567
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001163809.2(WDR81):c.626C>A (p.Pro209His)
|
rs200343855
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser)
|
rs1027527004
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)
|
rs563879626
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)
|
rs1416942996
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)
|
rs79843600
|
0.00003
|
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)
|
rs75037667
|
0.00003
|
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
|
rs397515410
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)
|
rs768714315
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter)
|
rs148294838
|
0.00003
|
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter)
|
rs199422186
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020921.4(NIN):c.5275T>C (p.Ser1759Pro)
|
rs201212734
|
0.00003
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg)
|
rs199422124
|
0.00003
|
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
|
rs201002323
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)
|
rs746346988
|
0.00002
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
|
rs104895095
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)
|
rs397508203
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg)
|
rs369095273
|
0.00002
|
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn)
|
rs757080586
|
0.00002
|
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
|
rs755829878
|
0.00002
|
NM_001184.4(ATR):c.2464G>A (p.Val822Met)
|
rs369120067
|
0.00002
|
NM_001184.4(ATR):c.7220G>A (p.Arg2407His)
|
rs778835776
|
0.00002
|
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)
|
rs774682373
|
0.00002
|
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
|
rs45509691
|
0.00002
|
NM_004700.4(KCNQ4):c.1502C>T (p.Thr501Ile)
|
rs200391496
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)
|
rs201852582
|
0.00002
|
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)
|
rs552938001
|
0.00002
|
NM_012233.3(RAB3GAP1):c.899+1G>A
|
rs587777152
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)
|
rs141097216
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)
|
rs753030030
|
0.00002
|
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter)
|
rs137852996
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)
|
rs104894002
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)
|
rs148559256
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn)
|
rs782591543
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=)
|
rs369099862
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000243.3(MEFV):c.*12T>C
|
rs104895183
|
0.00001
|
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)
|
rs104895164
|
0.00001
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
NM_000243.3(MEFV):c.1260+18G>C
|
rs104895136
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)
|
rs104895191
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
NM_000243.3(MEFV):c.2259A>G (p.Gln753=)
|
rs104895174
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)
|
rs104895211
|
0.00001
|
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
rs104895126
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp)
|
rs104895181
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
rs104895127
|
0.00001
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)
|
rs876657416
|
0.00001
|
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg)
|
rs771889662
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)
|
rs80358258
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys)
|
rs397518416
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro)
|
rs1191799507
|
0.00001
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
|
rs143218779
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)
|
rs397508214
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1679+5A>G
|
rs397508264
|
0.00001
|
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser)
|
rs397508308
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)
|
rs397508484
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)
|
rs397508643
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg)
|
rs397508789
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.913T>G (p.Phe305Val)
|
rs201885470
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000553.6(WRN):c.3094T>C (p.Ser1032Pro)
|
rs1802631623
|
0.00001
|
NM_001017420.3(ESCO2):c.1131+1G>A
|
rs80359861
|
0.00001
|
NM_001017420.3(ESCO2):c.1354-18G>A
|
rs80359865
|
0.00001
|
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)
|
rs80359849
|
0.00001
|
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln)
|
rs1032506558
|
0.00001
|
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)
|
rs760578075
|
0.00001
|
NM_001048166.1(STIL):c.2957A>G (p.His986Arg)
|
rs199422205
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)
|
rs104894414
|
0.00001
|
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)
|
rs281865550
|
0.00001
|
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
0.00001
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)
|
rs369302142
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_001329943.3(KIAA0586):c.2932_2944+4del
|
rs1278372009
|
0.00001
|
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)
|
rs1214168989
|
0.00001
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)
|
rs1182722973
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu)
|
rs1471498841
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)
|
rs752847936
|
0.00001
|
NM_004667.6(HERC2):c.7617+4A>C
|
rs1567006110
|
0.00001
|
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
|
rs80358277
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)
|
rs1131692170
|
0.00001
|
NM_005876.5(SPEG):c.2134G>A (p.Val712Met)
|
rs375953839
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006432.5(NPC2):c.115G>A (p.Val39Met)
|
rs80358261
|
0.00001
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
|
rs80358264
|
0.00001
|
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)
|
rs200529832
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg)
|
rs763764406
|
0.00001
|
NM_012448.4(STAT5B):c.440C>T (p.Thr147Met)
|
rs768919211
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_013382.7(POMT2):c.845G>A (p.Arg282His)
|
rs756132642
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)
|
rs398123036
|
0.00001
|
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
|
rs749627411
|
0.00001
|
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)
|
rs754153159
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)
|
rs113993995
|
0.00001
|
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)
|
rs61893867
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser)
|
rs746894472
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter)
|
rs199422181
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4103C>T (p.Ser1368Phe)
|
rs41309342
|
0.00001
|
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu)
|
rs35199933
|
0.00001
|
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)
|
rs104893998
|
0.00001
|
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)
|
rs747150601
|
0.00001
|
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)
|
rs1057519343
|
0.00001
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
rs200802048
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_020921.4(NIN):c.4343A>T (p.Gln1448Leu)
|
rs1440591707
|
0.00001
|
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg)
|
rs777351158
|
0.00001
|
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)
|
rs587777151
|
0.00001
|
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)
|
rs267606866
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)
|
rs672601361
|
0.00001
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)
|
rs672601360
|
0.00001
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)
|
rs1235525082
|
0.00001
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)
|
rs1316615934
|
0.00001
|
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter)
|
rs121434305
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)
|
rs76224909
|
0.00001
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
NM_080680.3(COL11A2):c.798+67C>T
|
rs772701006
|
0.00001
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)
|
rs781818534
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)
|
rs397515582
|
0.00001
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.2991+1G>A
|
rs80356594
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile)
|
rs397515600
|
0.00001
|
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp)
|
rs397515603
|
0.00001
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)
|
rs397515608
|
0.00001
|
NM_194248.3(OTOF):c.5712+1G>A
|
rs80356604
|
0.00001
|
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys)
|
rs541833704
|
0.00001
|
NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)
|
rs886044775
|
0.00001
|
NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser)
|
rs782522164
|
0.00001
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1
|
|
|
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
|
|
|
GRCh37/hg19 12q21.31(chr12:80696112-80696398)x1
|
|
|
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
|
|
|
NC_000019.10:g.35905884_35911125del
|
|
|
NG_008254.1:g.48570_71295dup22726
|
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu)
|
rs771608215
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)
|
rs2141193741
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000092.5(COL4A4):c.3398-5C>G
|
rs1334751349
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile)
|
rs2096271812
|
|
NM_000162.5(GCK):c.1133C>T (p.Ala378Val)
|
rs193929374
|
|
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)
|
rs193929375
|
|
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
|
rs80356654
|
|
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)
|
rs193929373
|
|
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
|
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
NM_000207.3(INS):c.*59A>G
|
rs397515519
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.-39A>C
|
rs1554921033
|
|
NM_000207.3(INS):c.104T>C (p.Leu35Pro)
|
rs121908273
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
NM_000207.3(INS):c.143T>G (p.Phe48Cys)
|
rs80356668
|
|
NM_000207.3(INS):c.250G>A (p.Gly84Arg)
|
rs121908274
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.287G>C (p.Cys96Ser)
|
rs80356671
|
|
NM_000207.3(INS):c.302C>G (p.Ser101Cys)
|
rs121908276
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
NM_000207.3(INS):c.323A>G (p.Tyr108Cys)
|
rs80356672
|
|
NM_000207.3(INS):c.3G>A (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.3G>T (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
NM_000207.3(INS):c.85C>G (p.His29Asp)
|
rs121908272
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000207.3(INS):c.94G>C (p.Gly32Arg)
|
rs80356664
|
|
NM_000208.4(INSR):c.167T>C (p.Ile56Thr)
|
rs1555689937
|
|
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs)
|
rs1555735951
|
|
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)
|
rs387906777
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu)
|
rs483353018
|
|
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys)
|
rs104895188
|
|
NM_000243.3(MEFV):c.1166A>T (p.Asp389Val)
|
rs786205886
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1516A>G (p.Ile506Val)
|
rs104895186
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1587+29G>T
|
rs104895206
|
|
NM_000243.3(MEFV):c.1675C>T (p.Leu559Phe)
|
rs104895113
|
|
NM_000243.3(MEFV):c.1727-58T>C
|
rs104895158
|
|
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser)
|
rs104895193
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1792+57C>T
|
rs104895150
|
|
NM_000243.3(MEFV):c.1793-14A>G
|
rs104895141
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)
|
rs387907568
|
|
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
|
rs104895115
|
|
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe)
|
rs104895147
|
|
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro)
|
rs104895108
|
|
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr)
|
rs142748016
|
|
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)
|
rs104895084
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe)
|
rs104895212
|
|
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn)
|
rs104895120
|
|
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val)
|
rs387907566
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys)
|
rs587783378
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys)
|
rs104895122
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile)
|
rs104895215
|
|
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)
|
rs104895094
|
|
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)
|
rs104895208
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser)
|
rs104895145
|
|
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg)
|
rs104895184
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr)
|
rs104895216
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser)
|
rs104895114
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu)
|
rs387907569
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.334dup (p.Glu112fs)
|
rs104895109
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
NM_000243.3(MEFV):c.375G>A (p.Glu125=)
|
rs104895142
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)
|
rs483353017
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.694T>C (p.Tyr232His)
|
rs104895205
|
|
NM_000243.3(MEFV):c.707G>T (p.Gly236Val)
|
rs104895159
|
|
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu)
|
rs483353019
|
|
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)
|
rs104895187
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000243.3(MEFV):c.911-22T>G
|
rs104895189
|
|
NM_000243.3(MEFV):c.983T>C (p.Val328Ala)
|
rs104895203
|
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser)
|
rs782384464
|
|
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro)
|
rs876657417
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000277.3(PAH):c.155del (p.Leu52fs)
|
rs281865165
|
|
NM_000281.4(PCBD1):c.210CAA[1] (p.Asn71del)
|
rs397518415
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
|
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)
|
rs80356651
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro)
|
rs193929364
|
|
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)
|
rs80356653
|
|
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu)
|
rs80356640
|
|
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)
|
rs193929366
|
|
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)
|
rs80356642
|
|
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)
|
rs1048095
|
|
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)
|
rs397515523
|
|
NM_000370.3(TTPA):c.205-1G>T
|
rs886040963
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)
|
rs397515525
|
|
NM_000370.3(TTPA):c.552+2T>A
|
rs886040964
|
|
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)
|
rs397515526
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000372.5(TYR):c.163T>G (p.Cys55Gly)
|
rs367543067
|
|
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)
|
rs367543068
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2909delG
|
rs397508458
|
|
NM_000492.3(CFTR):c.4_53+69del119ins299
|
|
|
NM_000492.3:c.1210-12T[(5_9)]
|
|
|
NM_000492.4(CFTR):c.*80T>G
|
rs397508135
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1012A>G (p.Thr338Ala)
|
rs397508142
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1059A>C (p.Gln353His)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105dup (p.Asp36fs)
|
rs397508149
|
|
NM_000492.4(CFTR):c.1069del (p.Ala357fs)
|
rs397508151
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg)
|
rs397508154
|
|
NM_000492.4(CFTR):c.1086T>A (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.1086T>G (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1106_1111dup (p.Asn369_Lys370dup)
|
rs397508156
|
|
NM_000492.4(CFTR):c.1116+1G>C
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-26_1117-25del
|
rs397508159
|
|
NM_000492.4(CFTR):c.112_113del (p.Tyr38fs)
|
rs397508162
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.1152del (p.Glu384fs)
|
rs397508167
|
|
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1210-12=
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210-1G>C
|
rs397508178
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.1235del (p.Ala412fs)
|
rs397508182
|
|
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)
|
rs1800074
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1331T>G (p.Ile444Ser)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)
|
rs397508195
|
|
NM_000492.4(CFTR):c.1393-18G>A
|
rs397508199
|
|
NM_000492.4(CFTR):c.1403T>C (p.Leu468Pro)
|
rs397508202
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1510G>C (p.Glu504Gln)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-9T>A
|
rs397508234
|
|
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu)
|
rs397508237
|
|
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu)
|
rs397508238
|
|
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter)
|
rs148173473
|
|
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs)
|
rs397508239
|
|
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val)
|
rs397508241
|
|
NM_000492.4(CFTR):c.164+1G>C
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg)
|
rs397508247
|
|
NM_000492.4(CFTR):c.1652del (p.Gly551fs)
|
rs397508252
|
|
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)
|
rs74597325
|
|
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs)
|
rs397508254
|
|
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly)
|
rs397508255
|
|
NM_000492.4(CFTR):c.1670del (p.Ser557fs)
|
rs397508257
|
|
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
|
rs397508260
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)
|
rs397508278
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)
|
rs397508282
|
|
NM_000492.4(CFTR):c.1714_1715del (p.Asp572fs)
|
rs397508281
|
|
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1726G>T (p.Gly576Ter)
|
rs397508284
|
|
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)
|
rs397508285
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1735G>T (p.Asp579Tyr)
|
rs397508287
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly)
|
rs397508291
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg)
|
rs397508293
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1766+5G>A
|
rs121908796
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1786_1787del (p.Met595_Ala596insTer)
|
rs397508301
|
|
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
|
rs77284892
|
|
NM_000492.4(CFTR):c.1798A>G (p.Arg600Gly)
|
rs397508305
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr)
|
rs397508307
|
|
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe)
|
rs143036685
|
|
NM_000492.4(CFTR):c.1823A>G (p.Glu608Gly)
|
rs397508309
|
|
NM_000492.4(CFTR):c.1829T>C (p.Leu610Ser)
|
rs397508311
|
|
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser)
|
rs397508313
|
|
NM_000492.4(CFTR):c.1859A>C (p.His620Pro)
|
rs397508314
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1898T>C (p.Leu633Pro)
|
rs397508318
|
|
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer)
|
rs397508322
|
|
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.2045dup (p.Gln685fs)
|
rs397508334
|
|
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter)
|
rs397508337
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)
|
rs397508345
|
|
NM_000492.4(CFTR):c.2188G>T (p.Glu730Ter)
|
rs397508349
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2204G>A (p.Arg735Lys)
|
rs397508352
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg)
|
rs201888075
|
|
NM_000492.4(CFTR):c.2297G>T (p.Arg766Met)
|
rs397508363
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)
|
rs397508369
|
|
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)
|
rs397508371
|
|
NM_000492.4(CFTR):c.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly)
|
rs397508373
|
|
NM_000492.4(CFTR):c.2411A>T (p.Glu804Val)
|
rs397508374
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)
|
rs397508378
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)
|
rs397508382
|
|
NM_000492.4(CFTR):c.2522C>G (p.Pro841Arg)
|
rs397508392
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs)
|
rs397508401
|
|
NM_000492.4(CFTR):c.2596T>C (p.Cys866Arg)
|
rs397508402
|
|
NM_000492.4(CFTR):c.259T>A (p.Phe87Ile)
|
rs397508403
|
|
NM_000492.4(CFTR):c.259T>C (p.Phe87Leu)
|
rs397508403
|
|
NM_000492.4(CFTR):c.2619+2T>A
|
rs397508407
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2620-1G>T
|
rs397508410
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>C (p.Leu88Ser)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.269T>C (p.Leu90Ser)
|
rs397508421
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys)
|
rs397508428
|
|
NM_000492.4(CFTR):c.2754T>G (p.Ile918Met)
|
rs397508429
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2776_2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.2846A>G (p.His949Arg)
|
rs397508444
|
|
NM_000492.4(CFTR):c.2861A>C (p.His954Pro)
|
rs397508446
|
|
NM_000492.4(CFTR):c.287C>A (p.Ala96Glu)
|
rs397508449
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.293A>C (p.Gln98Pro)
|
rs397508464
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)
|
rs397508474
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
NM_000492.4(CFTR):c.2T>A (p.Met1Lys)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)
|
rs397508478
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3021del (p.Val1008fs)
|
rs397508481
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile)
|
rs200553511
|
|
NM_000492.4(CFTR):c.3139+1G>T
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter)
|
rs397508512
|
|
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)
|
rs397508513
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro)
|
rs397508521
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro)
|
rs397508527
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.328del (p.Asp110fs)
|
rs397508530
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg)
|
rs397508539
|
|
NM_000492.4(CFTR):c.3315del (p.Met1105fs)
|
rs397508540
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg)
|
rs397508546
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys)
|
rs397508558
|
|
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del)
|
rs397508557
|
|
NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del)
|
rs397508563
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3439G>A (p.Val1147Ile)
|
rs397508562
|
|
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3481A>C (p.Ser1161Arg)
|
rs397508574
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.3497T>G (p.Phe1166Cys)
|
rs397508577
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3592del (p.His1197_Val1198insTer)
|
rs397508585
|
|
NM_000492.4(CFTR):c.3600A>G (p.Lys1200=)
|
rs397508586
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.364T>C (p.Tyr122His)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3718-24_3873+601del
|
rs1554395323
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3754A>C (p.Thr1252Pro)
|
rs397508603
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3777ACT[1] (p.Leu1261del)
|
rs397508610
|
|
NM_000492.4(CFTR):c.380T>G (p.Leu127Ter)
|
rs397508611
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer)
|
rs397508614
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3855del (p.Phe1286fs)
|
rs397508618
|
|
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)
|
rs397508619
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
NM_000492.4(CFTR):c.3873+33A>G
|
rs397508622
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.387del (p.Leu130fs)
|
rs397508627
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.3920A>G (p.Tyr1307Cys)
|
rs397508641
|
|
NM_000492.4(CFTR):c.3921T>A (p.Tyr1307Ter)
|
rs397508642
|
|
NM_000492.4(CFTR):c.393del (p.Phe131fs)
|
rs397508647
|
|
NM_000492.4(CFTR):c.3963+2T>A
|
rs397508650
|
|
NM_000492.4(CFTR):c.3964-3C>G
|
rs397508652
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3982_3984delinsTT (p.Ile1328fs)
|
rs397508655
|
|
NM_000492.4(CFTR):c.3985G>C (p.Glu1329Gln)
|
rs397508656
|
|
NM_000492.4(CFTR):c.3G>T (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4025_4028dup (p.Cys1344fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4040_4041del (p.Ser1347fs)
|
rs397508664
|
|
NM_000492.4(CFTR):c.4042del (p.His1348fs)
|
rs397508665
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.410T>A (p.Leu137His)
|
rs397508674
|
|
NM_000492.4(CFTR):c.4136+2T>G
|
rs1562928998
|
|
NM_000492.4(CFTR):c.4139del (p.Thr1380fs)
|
rs397508680
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4143C>A (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.4163T>A (p.Leu1388Gln)
|
rs397508688
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4201G>A (p.Glu1401Lys)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser)
|
rs397508703
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.42del (p.Lys14fs)
|
rs397508710
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)
|
rs397508718
|
|
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)
|
rs397508720
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.455T>G (p.Met152Arg)
|
rs397508722
|
|
NM_000492.4(CFTR):c.463G>C (p.Ala155Pro)
|
rs397508723
|
|
NM_000492.4(CFTR):c.481T>A (p.Tyr161Asn)
|
rs397508729
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)
|
rs397508730
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+2T>G
|
rs397508732
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.496A>G (p.Lys166Glu)
|
rs397508738
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.500T>G (p.Leu167Arg)
|
rs397508741
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.522_526del (p.Ile175fs)
|
rs397508743
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.550del (p.Leu184fs)
|
rs397508752
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.574G>A (p.Asp192Asn)
|
rs397508756
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.579+3A>T
|
rs397508761
|
|
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)
|
rs397508762
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.597T>G (p.His199Gln)
|
rs397508765
|
|
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
|
rs397508768
|
|
NM_000492.4(CFTR):c.609C>G (p.Ile203Met)
|
rs1800081
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.642_643insT (p.Ile215fs)
|
rs397508774
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.673T>C (p.Cys225Arg)
|
rs397508780
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.714del (p.Gly239_Leu240insTer)
|
rs397508787
|
|
NM_000492.4(CFTR):c.731T>A (p.Met244Lys)
|
rs397508790
|
|
NM_000492.4(CFTR):c.741C>G (p.Tyr247Ter)
|
rs1800082
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.773del (p.Arg258fs)
|
rs397508794
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.80del (p.Gly27fs)
|
rs397508798
|
|
NM_000492.4(CFTR):c.829T>A (p.Trp277Arg)
|
rs397508800
|
|
NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del)
|
rs397508801
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.870-3T>G
|
rs397508810
|
|
NM_000492.4(CFTR):c.874G>A (p.Glu292Lys)
|
rs397508811
|
|
NM_000492.4(CFTR):c.877C>A (p.Leu293Met)
|
rs397508812
|
|
NM_000492.4(CFTR):c.881_882del (p.Lys294fs)
|
rs397508813
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.920G>A (p.Ser307Asn)
|
rs397508817
|
|
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)
|
rs397508819
|
|
NM_000492.4(CFTR):c.980del (p.Leu327fs)
|
rs397508823
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)
|
rs193929358
|
|
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)
|
rs193929333
|
|
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val)
|
rs193929333
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)
|
rs80356611
|
|
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg)
|
rs193929337
|
|
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)
|
rs80356615
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly)
|
rs80356617
|
|
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr)
|
rs80356618
|
|
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)
|
rs80356618
|
|
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)
|
rs80356620
|
|
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg)
|
rs80356621
|
|
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)
|
rs80356622
|
|
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val)
|
rs193929348
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala)
|
rs193929352
|
|
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu)
|
rs193929353
|
|
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val)
|
rs193929353
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
|
rs193929356
|
|
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)
|
rs193929357
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000553.6(WRN):c.2089-3024A>G
|
rs281865157
|
|
NM_000553.6(WRN):c.2179dup (p.Cys727fs)
|
rs281865158
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_000553.6(WRN):c.3460-2A>C
|
rs281865159
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)
|
rs587778793
|
|
NM_001001331.4(ATP2B2):c.727G>A (p.Gly243Arg)
|
|
|
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)
|
rs1554555716
|
|
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
|
rs80359859
|
|
NM_001017420.3(ESCO2):c.1263+1G>C
|
rs80359863
|
|
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)
|
rs80359864
|
|
NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs)
|
rs80359866
|
|
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)
|
rs80359868
|
|
NM_001017420.3(ESCO2):c.1674-2A>G
|
rs80359869
|
|
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)
|
rs80359844
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)
|
rs80359846
|
|
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)
|
rs80359847
|
|
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)
|
rs80359848
|
|
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)
|
rs80359850
|
|
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)
|
rs80359851
|
|
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)
|
rs1554554098
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)
|
rs80359855
|
|
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)
|
rs80359856
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)
|
rs113994156
|
|
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe)
|
rs113994157
|
|
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)
|
rs113994158
|
|
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)
|
rs104894024
|
|
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
|
|
|
NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro)
|
rs28472545
|
|
NM_001048166.1(STIL):c.1263A>C (p.Gln421His)
|
rs28705368
|
|
NM_001048166.1(STIL):c.2829+1G>A
|
rs199422206
|
|
NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr)
|
rs199422204
|
|
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer)
|
rs199422207
|
|
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter)
|
rs121918609
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)
|
rs761101420
|
|
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)
|
rs901281230
|
|
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)
|
rs121907898
|
|
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
|
|
|
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg)
|
rs879253766
|
|
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys)
|
rs750281602
|
|
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)
|
rs879253763
|
|
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)
|
rs879253764
|
|
NM_001128431.4(SLC39A14):c.367C>T (p.Gln123Ter)
|
rs1554519011
|
|
NM_001128431.4(SLC39A14):c.751-9C>G
|
rs1039778197
|
|
NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)
|
|
|
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)
|
rs281865549
|
|
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)
|
rs281865547
|
|
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)
|
rs183258549
|
|
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)
|
rs2034878363
|
|
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)
|
|
|
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
rs113994160
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001184.4(ATR):c.1575GAA[1] (p.Lys527del)
|
rs2034798916
|
|
NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg)
|
|
|
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)
|
rs766769998
|
|
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
|
|
|
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
|
|
|
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
|
|
|
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
|
|
|
NM_001206999.2(CIT):c.1296-2A>G
|
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys)
|
rs2154132721
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)
|
rs1553939605
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
|
rs2055912067
|
|
NM_001267550.2(TTN):c.65505del (p.Ile21835fs)
|
rs1559521007
|
|
NM_001267550.2(TTN):c.69051A>G (p.Glu23017=)
|
rs770296752
|
|
NM_001267550.2(TTN):c.72390G>C (p.Leu24130Phe)
|
rs376664950
|
|
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)
|
rs121434435
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
|
|
|
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)
|
rs912981227
|
|
NM_001374623.1(PNPLA1):c.939G>T (p.Glu313Asp)
|
rs1582097565
|
|
NM_001374623.1(PNPLA1):c.940_952del (p.Trp314fs)
|
rs1582097559
|
|
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)
|
rs543921060
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)
|
rs397515566
|
|
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)
|
rs1560621495
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)
|
rs767833468
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_001614.5(ACTG1):c.824A>G (p.His275Arg)
|
|
|
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter)
|
rs886039224
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002335.4(LRP5):c.4349-8C>A
|
rs2153181939
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
NM_002485.5(NBN):c.149C>T (p.Ala50Val)
|
rs1554569035
|
|
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)
|
rs1283330641
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)
|
rs1057519585
|
|
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del)
|
rs1811866878
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.681del (p.Phe227fs)
|
rs1057519586
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)
|
rs776347449
|
|
NM_002700.3(POU4F3):c.499G>A (p.Val167Met)
|
|
|
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)
|
|
|
NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter)
|
rs769476648
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)
|
rs104894732
|
|
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
|
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
NM_003573.2(LTBP4):c.230+2T>G
|
rs2146012706
|
|
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)
|
rs761103069
|
|
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg)
|
rs201199211
|
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
|
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)
|
rs1064797088
|
|
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)
|
rs1064797089
|
|
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)
|
rs1064797090
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)
|
rs80338949
|
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)
|
rs993147176
|
|
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)
|
rs772168426
|
|
NM_004447.6(EPS8):c.1490T>A (p.Ile497Asn)
|
|
|
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)
|
rs80338752
|
|
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)
|
rs80338744
|
|
NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)
|
rs1574095388
|
|
NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs)
|
rs80338753
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.1341+2T>G
|
rs80338745
|
|
NM_004525.3(LRP2):c.2640-1G>A
|
rs587776717
|
|
NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys)
|
rs1574143454
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.770-2A>G
|
rs80338743
|
|
NM_004525.3(LRP2):c.8452+1G>A
|
rs80338748
|
|
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)
|
rs80338749
|
|
NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs)
|
rs80338750
|
|
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs)
|
rs80338751
|
|
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)
|
rs587777113
|
|
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=)
|
rs80358270
|
|
NM_004700.4(KCNQ4):c.211del (p.Gln71fs)
|
rs80358272
|
|
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)
|
rs80358271
|
|
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)
|
rs28937588
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
NM_004830.4(MED23):c.224del (p.Arg75fs)
|
rs2114781844
|
|
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
|
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)
|
rs201170917
|
|
NM_005883.3(APC2):c.278C>T (p.Pro93Leu)
|
|
|
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr)
|
rs1553878946
|
|
NM_006005.3(WFS1):c.2528A>T (p.Lys843Met)
|
rs763464027
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006012.4(CLPP):c.1A>G (p.Met1Val)
|
rs1217350095
|
|
NM_006012.4(CLPP):c.270+4A>G
|
rs398123035
|
|
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)
|
rs398123033
|
|
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)
|
rs398123034
|
|
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)
|
rs121908249
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)
|
rs1802492
|
|
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)
|
rs80338767
|
|
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
|
|
|
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)
|
rs80338766
|
|
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)
|
rs28939370
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)
|
rs76857106
|
|
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs)
|
rs77672568
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu)
|
rs79767407
|
|
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs)
|
rs78705193
|
|
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)
|
rs397515479
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro)
|
rs11694
|
|
NM_006432.5(NPC2):c.27del (p.Leu10fs)
|
rs80358267
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)
|
|
|
NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)
|
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn)
|
rs1561686908
|
|
NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)
|
rs376177973
|
|
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)
|
rs730882182
|
|
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs)
|
rs1553450718
|
|
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)
|
rs587777154
|
|
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro)
|
rs1553444935
|
|
NM_012233.3(RAB3GAP1):c.649-2A>G
|
rs730882183
|
|
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)
|
rs587777155
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)
|
rs1553278569
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
|
rs80356754
|
|
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)
|
rs186690580
|
|
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
|
|
|
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile)
|
rs1566062847
|
|
NM_014425.5(INVS):c.1417del (p.Ala473fs)
|
rs878855332
|
|
NM_014425.5(INVS):c.3125del (p.Asn1042fs)
|
rs878855333
|
|
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
|
rs1554825315
|
|
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)
|
rs137852922
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_015340.4(LARS2):c.351G>C (p.Met117Ile)
|
|
|
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs)
|
rs879253765
|
|
NM_015359.6(SLC39A14):c.512G>A (p.Gly171Glu)
|
rs1554519303
|
|
NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)
|
|
|
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)
|
rs515726139
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1503+1G>T
|
rs515726142
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)
|
rs515726144
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
|
rs864309740
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
|
rs864309741
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016038.4(SBDS):c.624+1G>C
|
rs113993997
|
|
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)
|
rs780500128
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.262del (p.Glu88fs)
|
rs768022031
|
|
NM_016194.4(GNB5):c.348_352del (p.Asp116fs)
|
rs1085307675
|
|
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
|
|
|
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
|
rs767929766
|
|
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)
|
rs193302865
|
|
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)
|
rs193302868
|
|
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)
|
rs119489101
|
|
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)
|
rs193302869
|
|
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)
|
rs193302870
|
|
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)
|
rs193302866
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer)
|
rs199422136
|
|
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter)
|
rs199422201
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs)
|
rs199422139
|
|
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter)
|
rs199422141
|
|
NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs)
|
rs199422142
|
|
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer)
|
rs199422143
|
|
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs)
|
rs199422144
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter)
|
rs199422148
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile)
|
rs7551108
|
|
NM_018136.5(ASPM):c.2761-25A>G
|
rs199422149
|
|
NM_018136.5(ASPM):c.2779T>C (p.Leu927=)
|
rs199422129
|
|
NM_018136.5(ASPM):c.2936+5G>T
|
rs199422150
|
|
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)
|
rs199422151
|
|
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)
|
rs199422152
|
|
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)
|
rs199422153
|
|
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg)
|
rs199422154
|
|
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter)
|
rs199422155
|
|
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs)
|
rs199422156
|
|
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter)
|
rs199422157
|
|
NM_018136.5(ASPM):c.3663del (p.Arg1221fs)
|
rs199422158
|
|
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter)
|
rs199422159
|
|
NM_018136.5(ASPM):c.3741+1G>A
|
rs199422160
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter)
|
rs199422162
|
|
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)
|
rs199422163
|
|
NM_018136.5(ASPM):c.440del (p.Lys147fs)
|
rs199422133
|
|
NM_018136.5(ASPM):c.4583del (p.Lys1528fs)
|
rs199422164
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs)
|
rs199422166
|
|
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer)
|
rs199422167
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs)
|
rs199422170
|
|
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs)
|
rs199422171
|
|
NM_018136.5(ASPM):c.719_720del (p.Ser240fs)
|
rs199422135
|
|
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=)
|
rs199422130
|
|
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs)
|
rs199422172
|
|
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)
|
rs41308365
|
|
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter)
|
rs189678019
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.77del (p.Gly26fs)
|
rs199422131
|
|
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs)
|
rs199422174
|
|
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter)
|
rs199422175
|
|
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs)
|
rs199422176
|
|
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs)
|
rs199422177
|
|
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter)
|
rs199422178
|
|
NM_018136.5(ASPM):c.8378del (p.Met2793fs)
|
rs199422179
|
|
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe)
|
rs199422128
|
|
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs)
|
rs199422180
|
|
NM_018136.5(ASPM):c.8844del (p.Lys2949fs)
|
rs199422182
|
|
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs)
|
rs199422183
|
|
NM_018136.5(ASPM):c.9159del (p.Lys3053fs)
|
rs199422184
|
|
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter)
|
rs199422187
|
|
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
|
rs36004306
|
|
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter)
|
rs143931757
|
|
NM_018136.5(ASPM):c.9507del (p.Ile3170fs)
|
rs199422188
|
|
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
|
rs199422189
|
|
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter)
|
rs199422190
|
|
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs)
|
rs199422191
|
|
NM_018136.5(ASPM):c.9685del (p.Ile3229fs)
|
rs199422192
|
|
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs)
|
rs199422193
|
|
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)
|
rs199422196
|
|
NM_018136.5(ASPM):c.9754del (p.Arg3252fs)
|
rs199422197
|
|
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter)
|
rs199422198
|
|
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter)
|
rs199422199
|
|
NM_018136.5(ASPM):c.9984+1G>T
|
rs199422200
|
|
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter)
|
rs199422126
|
|
NM_018249.6(CDK5RAP2):c.2599G>A (p.Gly867Arg)
|
rs10984919
|
|
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)
|
rs3780679
|
|
NM_018249.6(CDK5RAP2):c.3989A>T (p.Asn1330Ile)
|
rs7875294
|
|
NM_018249.6(CDK5RAP2):c.409G>T (p.Ala137Ser)
|
rs41302645
|
|
NM_018249.6(CDK5RAP2):c.4129G>T (p.Asp1377Tyr)
|
rs747188549
|
|
NM_018249.6(CDK5RAP2):c.4547A>G (p.Glu1516Gly)
|
rs3210500
|
|
NM_018249.6(CDK5RAP2):c.546T>G (p.Phe182Leu)
|
rs13287599
|
|
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro)
|
rs13287734
|
|
NM_018249.6(CDK5RAP2):c.569C>T (p.Ala190Val)
|
rs13287876
|
|
NM_018249.6(CDK5RAP2):c.91G>A (p.Asp31Asn)
|
rs58961732
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
|
|
NM_018255.4(ELP2):c.454C>A (p.Leu152Ile)
|
rs2144603879
|
|
NM_018429.3(BDP1):c.4613C>G (p.Ala1538Gly)
|
|
|
NM_018451.5(CENPJ):c.18del (p.Ser7fs)
|
rs199422202
|
|
NM_018451.5(CENPJ):c.2678A>C (p.Gln893Pro)
|
rs41306029
|
|
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)
|
rs199422203
|
|
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val)
|
rs121434311
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)
|
rs769647986
|
|
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)
|
rs797044603
|
|
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr)
|
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter)
|
rs765966679
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)
|
rs147471840
|
|
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
NM_020921.4(NIN):c.5995C>T (p.Arg1999Cys)
|
|
|
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del)
|
rs587776875
|
|
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)
|
rs387906833
|
|
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)
|
rs387906832
|
|
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter)
|
rs1163280866
|
|
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)
|
rs80356541
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
|
|
|
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)
|
rs773283542
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
|
rs761864966
|
|
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
|
rs753380568
|
|
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val)
|
rs200823026
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter)
|
rs878855334
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe)
|
rs1946427260
|
|
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val)
|
rs1565213438
|
|
NM_032237.5(POMK):c.979G>C (p.Val327Leu)
|
rs546931054
|
|
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)
|
rs587777353
|
|
NM_032575.3(GLIS2):c.775+1G>T
|
rs878855335
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.365T>C (p.Val122Ala)
|
rs79993407
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)
|
rs74876396
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)
|
rs78408272
|
|
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup)
|
rs78379807
|
|
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)
|
rs78948846
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)
|
rs267607191
|
|
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)
|
rs267607193
|
|
NM_052989.3(IFT122):c.955del (p.Glu319fs)
|
rs397515567
|
|
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)
|
rs797044567
|
|
NM_138691.3(TMC1):c.1236del (p.Met413fs)
|
rs876657727
|
|
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg)
|
rs1554217772
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_144508.5(KNL1):c.1780G>A (p.Ala594Thr)
|
|
|
NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met)
|
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_153816.6(SNX14):c.2557+1G>A
|
rs200277996
|
|
NM_170682.4(P2RX2):c.774G>A (p.Lys258=)
|
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
|
rs1572366516
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
NM_170707.4(LMNA):c.1700_1968+1del
|
rs1553266460
|
|
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)
|
rs797044486
|
|
NM_170707.4(LMNA):c.1821G>A (p.Val607=)
|
rs59886214
|
|
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)
|
rs61064130
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser)
|
rs59267781
|
|
NM_170707.4(LMNA):c.1968+1G>A
|
rs113436208
|
|
NM_170707.4(LMNA):c.1968+1G>C
|
rs113436208
|
|
NM_170707.4(LMNA):c.1968+2T>A
|
rs113860699
|
|
NM_170707.4(LMNA):c.1968+2T>C
|
rs113860699
|
|
NM_170707.4(LMNA):c.1968+5G>A
|
rs797044488
|
|
NM_170707.4(LMNA):c.1968+5G>C
|
rs797044488
|
|
NM_170707.4(LMNA):c.1968G>A (p.Gln656=)
|
rs797044487
|
|
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)
|
rs60310264
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys)
|
rs797044485
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)
|
rs776560015
|
|
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)
|
rs1565019976
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)
|
rs1565019932
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)
|
rs1592773965
|
|
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs)
|
rs397515579
|
|
NM_194248.3(OTOF):c.1180dup (p.Glu394fs)
|
rs397515580
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1601del (p.Pro534fs)
|
rs397515583
|
|
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter)
|
rs397515584
|
|
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer)
|
rs397515585
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg)
|
rs397515586
|
|
NM_194248.3(OTOF):c.1740del (p.Ser581fs)
|
rs397515587
|
|
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)
|
rs397515588
|
|
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)
|
rs397515589
|
|
NM_194248.3(OTOF):c.1886dup (p.Pro630fs)
|
rs80356588
|
|
NM_194248.3(OTOF):c.1966del (p.Arg656fs)
|
rs397515590
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2214+1G>T
|
rs80356589
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter)
|
rs397515592
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter)
|
rs397515593
|
|
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs)
|
rs397515594
|
|
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs)
|
rs397515595
|
|
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)
|
rs201329629
|
|
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)
|
rs397515596
|
|
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)
|
rs397515597
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)
|
rs397515598
|
|
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu)
|
rs370609551
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_194248.3(OTOF):c.3571-2A>C
|
rs80356597
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter)
|
rs397515602
|
|
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs)
|
rs797044816
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4500+2T>G
|
rs80356599
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
|
rs17005371
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs)
|
rs397515604
|
|
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys)
|
rs397515606
|
|
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del)
|
rs397515607
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp)
|
rs80356583
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg)
|
rs80356606
|
|
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)
|
rs397515610
|
|
NM_194248.3(OTOF):c.765G>C (p.Gln255His)
|
rs397515611
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_201384.3(PLEC):c.10339C>T (p.Leu3447Phe)
|
|
|
NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del)
|
rs781811075
|
|
NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro)
|
rs1586877407
|
|
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)
|
rs1554929295
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
Single allele
|
|
|