ClinVar Miner

List of variants reported as not provided for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1835
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HGVS dbSNP gnomAD frequency
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

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