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_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_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
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_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_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_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_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly)
|
rs6428388
|
0.01455
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
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_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.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His)
|
rs35909061
|
0.00402
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
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_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
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_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_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_001009994.3(RIPPLY2):c.240-4T>G
|
rs370933531
|
0.00074
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly)
|
rs34177811
|
0.00039
|
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_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
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_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
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_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
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_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_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
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_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_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
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_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_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
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_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
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_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)
|
rs572177274
|
0.00008
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
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_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
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_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
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_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
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_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
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.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
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_018965.4(TREM2):c.197C>T (p.Thr66Met)
|
rs201258663
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
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_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
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.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
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_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
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_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_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
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_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_018136.5(ASPM):c.349C>T (p.Arg117Ter)
|
rs137852996
|
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_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_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
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.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_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_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
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_001048166.1(STIL):c.2957A>G (p.His986Arg)
|
rs199422205
|
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_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
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_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_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_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
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_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.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_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_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_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_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_024580.6(EFL1):c.2645T>A (p.Met882Lys)
|
rs1316615934
|
0.00001
|
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter)
|
rs121434305
|
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_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
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_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
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.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)
|
rs2141193741
|
|
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_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.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.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.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.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.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
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.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
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_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_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_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_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:c.1210-12T[(5_9)]
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1210-12=
|
rs1805177
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
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_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_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_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_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
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_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)
|
rs281865549
|
|
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)
|
rs281865547
|
|
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
rs113994160
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
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_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)
|
rs121434435
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
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_001983.4(ERCC1):c.676A>T (p.Lys226Ter)
|
rs886039224
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
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.330T>G (p.Tyr110Ter)
|
rs1057519585
|
|
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_003332.4(TYROBP):c.2T>C (p.Met1Thr)
|
rs104894732
|
|
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_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_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)
|
rs80338752
|
|
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)
|
rs80338744
|
|
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.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_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
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_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_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_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_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_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_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.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_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_018965.4(TREM2):c.113A>G (p.Tyr38Cys)
|
rs797044603
|
|
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.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_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
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_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_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter)
|
rs878855334
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
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_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_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.667G>A (p.Glu223Lys)
|
rs797044485
|
|
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_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_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|