ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and PreventionGenetics,PreventionGenetics

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1 3270 0 586 324 8 8 926

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 1 1
likely pathogenic 3 0 0 0 2
uncertain significance 1 3 0 282 40
likely benign 0 0 1 0 93
benign 0 0 1 487 0
other 0 0 0 2 6

All variants with conflicting interpretations #

Total variants: 926
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000249.3(MLH1):c.222T>C (p.Asp74=) rs755073786
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.4(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000272.4(NPHP1):c.940-17G>A rs146343637
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1549-4T>C rs374450718
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.550-10C>T rs201240150
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000407.4(GP1BB):c.399C>T (p.Ala133=) rs142352780
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.4242+13A>G rs76179227
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.14061G>A (p.Leu4687=) rs201629205
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2415T>C (p.Pro805=) rs141881325
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7615-5C>T rs768008924
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000546.5(TP53):c.559+8G>A rs775915220
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000552.4(VWF):c.1329C>T (p.Ser443=) rs142404899
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.4(BCKDHA):c.995+26C>T rs284653
NM_000709.4(BCKDHA):c.995+49G>A rs284654
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544
NM_001100.3(ACTA1):c.129+31C>A rs144658220
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.951+39T>C rs74384941
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001142571.2(RAD51D):c.726A>G (p.Glu242=) rs114012742
NM_001142571.2(RAD51D):c.758A>G (p.Glu253Gly) rs28363284
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001165927.1(MKS1):c.438C>T (p.Val146=) rs199684837
NM_001165927.1(MKS1):c.844A>G (p.Lys282Glu) rs201845569
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001195553.2(DCX):c.705+48A>G rs201805884
NM_001195553.2(DCX):c.947-46T>C rs113181679
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001256715.2(DNAAF3):c.323-4del rs201986299
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=) rs773892755
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=) rs372312805
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.67637-4A>G rs376053678
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754
NM_001267550.2(TTN):c.8902+14T>A rs13388274
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271620.2(ZNF423):c.1782C>T (p.His594=) rs75294107
NM_001271620.2(ZNF423):c.3087C>T (p.Tyr1029=) rs150027129
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302
NM_001305581.2(LRMDA):c.132-253012del rs146123023
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001365068.1(ASTN2):c.2806+26319C>T rs555217187
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041
NM_001458.4(FLNC):c.4947C>T (p.Gly1649=) rs201069454
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717
NM_001458.4(FLNC):c.597C>T (p.Ala199=) rs143942649
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101
NM_001499.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
NM_001848.2(COL6A1):c.1119+39C>T rs74982956
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1740+50C>T rs148205490
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.428+39C>G rs148766287
NM_001848.2(COL6A1):c.588+37A>G rs117470181
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.859-18T>A rs398123641
NM_001848.2(COL6A1):c.859-20C>T rs78884675
NM_001848.2(COL6A1):c.958-17G>A rs79364611
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001849.3(COL6A2):c.1116+22C>T rs111592472
NM_001849.3(COL6A2):c.116-34G>A rs117154313
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1735-30A>G rs73382466
NM_001849.3(COL6A2):c.1970-23G>C rs78764604
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=) rs759646708
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001918.4(DBT):c.1281+31T>G rs115696850
NM_001918.4(DBT):c.251+14dup rs201469612
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=) rs181711509
NM_002206.3(ITGA7):c.791-7C>T rs144699549
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002473.5(MYH9):c.165C>T (p.Ile55=) rs141948797
NM_002473.5(MYH9):c.2871C>T (p.Ser957=) rs374840260
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003165.4(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) rs374418866
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467
NM_003919.3(SGCE):c.391-3T>C rs17166384
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004006.2(DMD):c.2199C>T (p.Ser733=) rs149882431
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004006.2(DMD):c.8847G>A (p.Lys2949=) rs185664502
NM_004006.2(DMD):c.960+9A>G rs886038537
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004333.6(BRAF):c.918C>G (p.Ser306=) rs794727865
NM_004360.5(CDH1):c.532-18C>T rs200673941
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3071-16G>A rs73998896
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6754-9C>G rs886038542
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.9329-33C>T rs398124137
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.4(COL6A3):c.4156G>A rs146092501
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_004393.6(DAG1):c.498G>A (p.Ser166=) rs794727500
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_004560.4(ROR2):c.937+10C>T rs201083970
NM_004656.4(BAP1):c.1729+8T>C rs150945583
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.1452-28C>T rs76647066
NM_004737.6(LARGE1):c.1611G>A (p.Glu537=) rs372629986
NM_004737.6(LARGE1):c.1731-24T>C rs73399532
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970
NM_004937.3(CTNS):c.561+4C>T rs111256750
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404
NM_005603.6(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=) rs756630815
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006731.2(FKTN):c.1045-40C>A rs145883833
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006790.2(MYOT):c.630G>A (p.Ser210=) rs375308029
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049
NM_006883.2(SHOX):c.633+3540G>A rs746391025
NM_006883.2(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384
NM_006949.4(STXBP2):c.795-4C>T rs151257815
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007214.5(SEC63):c.340-12_340-7delinsCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_012144.4(DNAI1):c.81+5del rs200411544
NM_012222.2(MUTYH):c.1440C>T (p.Thr480=) rs150269172
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_012470.3(TNPO3):c.2280T>C (p.Ile760=) rs142359170
NM_012470.3(TNPO3):c.582T>C (p.Asp194=) rs148885407
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220
NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) rs144556973
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_015102.5(NPHP4):c.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.1957-3C>T rs201069969
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) rs369550628
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304
NM_016616.5(NME8):c.271-3T>C rs191137504
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915
NM_017534.6(MYH2):c.2304+7T>G rs370223713
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018139.2(DNAAF2):c.1953A>G (p.Pro651=) rs34352773
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018668.4(VPS33B):c.357G>A (p.Lys119=) rs146758743
NM_018941.3(CLN8):c.207G>A (p.Thr69=) rs368365607
NM_018965.3(TREM2):c.259G>A (p.Asp87Asn) rs142232675
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026
NM_020365.5(EIF2B3):c.149-4A>G rs72887005
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_020451.3(SELENON):c.465G>A (p.Thr155=) rs753774853
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143
NM_020451.3(SELENON):c.747+39C>T rs114458946
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
NM_021140.3(KDM6A):c.3678T>C (p.His1226=) rs138989066
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_022067.4(VIPAS39):c.1254T>C (p.Asn418=) rs188105111
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022132.5(MCCC2):c.1574+37C>G rs138725621
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) rs61756006
NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267
NM_052845.4(MMAB):c.135-23T>C rs66580225
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669
NM_053025.4(MYLK):c.588+10C>T rs886038709
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_054035.2(UNC119):c.65G>T (p.Gly22Val) rs199714731
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=) rs150709673
NM_130468.3(CHST14):c.807T>C (p.Asp269=) rs139229738
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.130+9G>A rs367608402
NM_138694.4(PKHD1):c.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_173660.5(DOK7):c.331+9C>T rs370879328
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729
NM_181426.2(CCDC39):c.1035-5T>C rs200089274
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773
NM_183050.4(BCKDHB):c.344-24C>T rs73479953
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950
NM_198525.3(KIF7):c.3665-5G>A rs79532879
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2305-10del rs142120912
NM_201384.3(PLEC):c.3757-9A>G rs57461687
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246
NM_213599.2(ANO5):c.1545A>G (p.Ser515=) rs35843353
NM_213599.2(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213674.1(TPM2):c.300C>T (p.Asp100=) rs532190742
UGT1A1*6 rs4148323

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