ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 1477

HGVS dbSNP
NC_000008.11:g.(?_6406592)_(6439097_6442066)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000017.11:g.3600934_3658165del57232
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
NG_011506.1:g.15883_17827del1945insTG
NG_011801.1:g.72149_72150delTT rs1169875761
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.3(ACADVL):c.1679-6G>A rs113994171
NM_000018.3(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.3(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.3(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.3(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.3(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.3(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.3(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000032.4(ALAS2):c.1699_1700delAT (p.Met567Glufs) rs387906473
NM_000032.4(ALAS2):c.1706_1709delAGTG (p.Glu569Glyfs) rs387906472
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000047.2(ARSE):c.1732C>T (p.Pro578Ser) rs28935474
NM_000047.2(ARSE):c.1743G>A (p.Trp581Ter) rs80338714
NM_000047.2(ARSE):c.410G>T (p.Gly137Val) rs80338711
NM_000048.3(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000053.3(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.2(BLM):c.2407dupT (p.Trp803Leufs) rs367543012
NM_000057.3(BLM):c.1544dupA (p.Asn515Lysfs) rs367543043
NM_000057.3(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2488dupA (p.Thr830Asnfs) rs367543019
NM_000057.3(BLM):c.2506_2507delAG (p.Arg836Glyfs) rs367543024
NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs) rs367543014
NM_000057.3(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.3(BLM):c.557_559delCAA (p.Ser186_Pro521delinsTer) rs367543035
NM_000057.3(BLM):c.772_773delCT (p.Leu258Glufs) rs367543013
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.2(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.3(CAPN3):c.549delA (p.Thr184Argfs) rs80338800
NM_000081.3(LYST):c.118_119insG (p.Ala40Glyfs) rs80338642
NM_000081.3(LYST):c.1467del (p.Glu489Aspfs) rs80338644
NM_000081.3(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.3(LYST):c.1902dupA (p.Ala635Serfs) rs80338646
NM_000081.3(LYST):c.2623delT (p.Tyr875Metfs) rs80338649
NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_000081.3(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.3(LYST):c.9590del (p.Tyr3197Leufs) rs80338667
NM_000083.2(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.2(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.2(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000084.4(CLCN5):c.731C>T (p.Ser244Leu) rs151340626
NM_000084.4(CLCN5):c.779G>T (p.Gly260Val) rs151340630
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp)
NM_000095.2(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.2(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000096.3(CP):c.1286_1287insTACAC (p.Asp430Thrfs) rs386134145
NM_000096.3(CP):c.2065delC (p.Pro689Leufs) rs386134147
NM_000096.3(CP):c.2389delG (p.Glu797Argfs) rs386134149
NM_000096.3(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.3(CP):c.3019-1G>A rs386134142
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.3(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del) rs121908077
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000137.2(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.2(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.2(FAH):c.1062+5G>A rs80338901
NM_000137.2(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.2(FAH):c.554-1G>T rs80338895
NM_000137.2(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.2(FAH):c.786G>A (p.Trp262Ter) rs80338899
NM_000140.3(FECH):c.315-48T>C rs2272783
NM_000142.4(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val) rs80053154
NM_000142.4(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.4(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000152.3(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.3(GAA):c.525delT (p.Glu176Argfs) rs386834235
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.4(GAA):c.2482_2646del165 (p.Gly828_Asn882del) rs1555603048
NM_000156.5(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000156.5(GAMT):c.59G>C (p.Trp20Ser) rs80338734
NM_000157.3(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.3(GBA):c.475C>T (p.Arg159Trp) rs439898
NM_000157.3(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.3(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.3(GBA):c.754T>A (p.Phe252Ile) rs381737
NM_000158.3(GBE1):c.143+1G>A rs397515343
NM_000158.3(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.3(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.3(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.3(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.3(GBE1):c.1643G>A (p.Trp548Ter) rs137852894
NM_000158.3(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.3(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.3(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.3(GBE1):c.691+5G>C rs397515344
NM_000158.3(GBE1):c.771T>A (p.Phe257Leu) rs137852887
NM_000158.3(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.3(GBE1):c.993-?_1618+?del
NM_000162.3(GCK):c.1019+2T>G rs193929376
NM_000162.3(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.3(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.5(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.5(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.5(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.5(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.5(GLI3):c.2012delG (p.Gly671Glufs) rs116840743
NM_000168.5(GLI3):c.2023delG (p.Glu675Serfs) rs116840744
NM_000168.5(GLI3):c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) rs116840754
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000168.5(GLI3):c.3439G>T (p.Glu1147Ter) rs116840768
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000171.3(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.3(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000187.3(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.3(HGD):c.1111dupC (p.His371Profs) rs397515516
NM_000187.3(HGD):c.16-1G>A rs397515347
NM_000187.3(HGD):c.175delA (p.Ser59Alafs) rs397515517
NM_000187.3(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.3(HGD):c.457dupG (p.Asp153Glyfs) rs397515346
NM_000187.3(HGD):c.481G>A (p.Gly161Arg) rs28941783
NM_000187.3(HGD):c.688C>T (p.Pro230Ser) rs28942100
NM_000187.3(HGD):c.808G>A (p.Gly270Arg) rs120074174
NM_000187.3(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000193.3(SHH):c.1132_1140del (p.Ala378_Phe380del) rs397515376
NM_000193.3(SHH):c.1147G>A (p.Ala383Thr) rs137853341
NM_000193.3(SHH):c.1270C>G (p.Pro424Ala) rs104894048
NM_000193.3(SHH):c.263A>T (p.Asp88Val) rs104894050
NM_000193.3(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.3(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000193.3(SHH):c.345C>A (p.Asn115Lys) rs267607047
NM_000193.3(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.3(SHH):c.349T>G (p.Trp117Gly) rs104894040
NM_000193.3(SHH):c.671T>A (p.Val224Glu) rs104894042
NM_000193.3(SHH):c.676G>A (p.Ala226Thr) rs104894043
NM_000193.3(SHH):c.766G>T (p.Glu256Ter) rs104894051
NM_000193.3(SHH):c.788_808del21 (p.Arg263_Ala269del) rs397515375
NM_000193.3(SHH):c.850G>T (p.Glu284Ter) rs104894046
NM_000193.3(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000193.3(SHH):c.91G>A (p.Gly31Arg) rs28936675
NM_000195.3(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.4(HPS1):c.398+5G>A rs281865077
NM_000195.4(HPS1):c.972delC (p.Met325Trpfs) rs281865082
NM_000195.4(HPS1):c.972dupC (p.Met325Hisfs) rs281865082
NM_000207.2(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.2(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.2(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.2(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.2(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.2(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.3(PDX1):c.188del (p.Pro63Argfs) rs193929377
NM_000209.3(PDX1):c.492G>T (p.Glu164Asp) rs80356661
NM_000209.3(PDX1):c.532G>A (p.Glu178Lys) rs80356662
NM_000213.3(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter) rs104894358
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000227.4(LAMA3):c.151dup (p.Val51Glyfs) rs80356678
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.2(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000257.3(MYH7):c.5186_5188delAGA (p.Lys1729del) rs367543052
NM_000265.5(NCF1):c.75_76del (p.Tyr26Hisfs) rs4029402
NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000288.3(PEX7):c.13_19dup (p.Gly7Valfs) rs62636519
NM_000288.3(PEX7):c.340-10A>G rs267608255
NM_000288.3(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs) rs63535662
NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.3(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.3(PEX7):c.854A>G (p.His285Arg) rs62653611
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.3(PEX7):c.903+1G>C rs148591292
NM_000303.2(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.2(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.2(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000304.3(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.3(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.3(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000304.4(PMP22):c.281dup (p.Arg95Glnfs) rs80338763
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000311.3(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000311.4(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) rs193922906
NM_000311.4(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.4(PRNP):c.313C>A (p.Pro105Thr) rs74315414
NM_000311.4(PRNP):c.313C>T (p.Pro105Ser) rs74315414
NM_000311.4(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.4(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000311.4(PRNP):c.435T>G (p.Tyr145Ter) rs80356710
NM_000311.4(PRNP):c.478C>T (p.Gln160Ter) rs80356711
NM_000311.4(PRNP):c.547A>G (p.Thr183Ala) rs74315411
NM_000311.4(PRNP):c.560A>G (p.His187Arg) rs74315413
NM_000311.4(PRNP):c.593T>C (p.Phe198Ser) rs74315405
NM_000311.4(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000311.4(PRNP):c.628G>A (p.Val210Ile) rs74315407
NM_000311.4(PRNP):c.650A>G (p.Gln217Arg) rs74315406
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000346.3(SOX9):c.1320C>A (p.Tyr440Ter) rs80338688
NM_000346.3(SOX9):c.1320C>G (p.Tyr440Ter) rs80338688
NM_000352.4(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.4(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.4(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.4(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.4(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851
NM_000370.3(TTPA):c.487delT (p.Trp163Glyfs) rs397515378
NM_000370.3(TTPA):c.513_514insTT (p.Thr172Leufs) rs397515379
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840
NM_000370.3(TTPA):c.744delA (p.Glu249Asnfs) rs397515377
NM_000375.2(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.2(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.2(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.2(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000399.3(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.4(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.4(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.4(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000403.3(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_000403.3(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_000403.3(GALE):c.280G>A (p.Val94Met) rs121908047
NM_000403.3(GALE):c.505C>T (p.Arg169Trp) rs137853859
NM_000403.3(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_000403.3(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_000403.3(GALE):c.956G>A (p.Gly319Glu) rs28940885
NM_000424.3(KRT5):c.1649delG (p.Gly550Alafs) rs61126080
NM_000424.3(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000426.3(LAMA2):c.1854_1861dupACGTGTTC (p.Leu621Hisfs) rs202247791
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577
NM_000426.3(LAMA2):c.7750-1713_7899-2153del4987
NM_000430.3(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) rs113994200
NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) rs113994200
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) rs113994198
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) rs113994198
NM_000430.3(PAFAH1B1):c.569-10T>C rs113994202
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000441.1(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_000447.2(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.2(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000459.4(TEK):c.2545C>T (p.Arg849Trp) rs80338908
NM_000459.4(TEK):c.2690A>C (p.Tyr897Ser) rs80338909
NM_000481.3(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.3(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000484.3(APP):c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.3(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.3(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.3(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000485.2(APRT):c.321+2_321+3insT rs281860263
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1210+1G>A rs80338820
NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.1408_1418del11 (p.Ala470Leufs) rs80338823
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000495.4(COL4A5):c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del) rs104886321
NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.4(COL4A5):c.351_359delACCTCAAGG (p.Pro118_Gly120del) rs104886390
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.4(COL4A5):c.4177delC (p.Gln1393Lysfs) rs281874729
NM_000495.4(COL4A5):c.4613G>C (p.Trp1538Ser) rs104886293
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.4(COL4A5):c.4691G>C (p.Cys1564Ser) rs104886287
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.9(CYP21A2):c.923dup (p.Leu308Phefs) rs267606756
NM_000512.4(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.4(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.3(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg) rs80356613
NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000526.4(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000526.4(KRT14):c.368A>G (p.Asn123Ser) rs60171927
NM_000526.4(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.4(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000528.3(MAN2B1):c.1830+1G>C rs80338677
NM_000528.3(MAN2B1):c.1831-2A>G rs80338678
NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000530.6(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.7(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.7(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs) rs397507445
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.4(PCCB):c.1539_1540insCCC (p.Ala513_Arg514insPro) rs202247821
NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.4(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000553.4(WRN):c.3139-1G>C rs113993961
NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs) rs281865160
NM_000553.5(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000642.2(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.2(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.2(AGL):c.18_19delGA (p.Gln6Hisfs) rs113994127
NM_000642.2(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.2(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.2(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.2(AGL):c.3965delT (p.Val1322Alafs) rs113994132
NM_000642.2(AGL):c.4260-12A>G rs369973784
NM_000642.2(AGL):c.4456delT (p.Ser1486Profs) rs113994134
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000742.3(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.2(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.2(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.3(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.3(CYP27A1):c.1184+1G>A rs587778777
NM_000784.3(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598
NM_000784.3(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.3(CYP27A1):c.1263+1G>A rs397515355
NM_000784.3(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000784.3(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097
NM_000784.3(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.3(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.3(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356
NM_000784.3(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.3(CYP27A1):c.446+1G>A rs587778797
NM_000784.3(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314
NM_000784.3(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.3(CYP27A1):c.819delT (p.Asp273Glufs) rs587778812
NM_000784.3(CYP27A1):c.844+1G>A rs397515354
NM_000784.3(CYP27A1):c.845-1G>A rs397515353
NM_000784.3(CYP27A1):c.944_948delTGGCC (p.Leu315Glnfs) rs397515356
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000824.4(GLRB):c.610+5G>A rs281864922
NM_000824.4(GLRB):c.752G>A (p.Gly251Asp) rs121909749
NM_000920.3(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_000920.3(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_000920.3(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_000920.3(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_000920.3(PC):c.434T>C (p.Val145Ala) rs28940591
NM_000996.2(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.2(RPL35A):c.82_84delCTT (p.Leu28del) rs116840807
NM_000996.2(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001005741.2(GBA):c.115+1G>A rs104886460
NM_001005741.2(GBA):c.1265_1319del55 (p.Leu422Profs) rs80356768
NM_001005741.2(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_001005741.2(GBA):c.1343A>T (p.Asp448Val) rs77369218
NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_001005741.2(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_001005741.2(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_001005741.2(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_001006657.1(WDR35):c.1592T>C (p.Leu531Pro) rs397515533
NM_001006657.1(WDR35):c.1877A>G (p.Glu626Gly) rs267607174
NM_001006657.1(WDR35):c.1922T>G (p.Leu641Ter) rs199952377
NM_001006657.1(WDR35):c.2623G>A (p.Ala875Thr) rs267607175
NM_001006657.1(WDR35):c.2891del (p.Pro964Leufs) rs397515334
NM_001010892.2(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043
NM_001010892.2(RSPH4A):c.325C>T (p.Gln109Ter) rs118204042
NM_001010892.2(RSPH4A):c.460C>T (p.Gln154Ter) rs118204041
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001017420.2(ESCO2):c.1132-7A>G rs80359862
NM_001017420.2(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.2(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.2(ESCO2):c.294_297delGAGA (p.Arg99Serfs) rs80359845
NM_001017420.2(ESCO2):c.505C>T (p.Arg169Ter) rs80359849
NM_001017420.2(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.2(ESCO2):c.751dupG (p.Glu251Glyfs) rs1554554098
NM_001017420.2(ESCO2):c.760delA (p.Thr254Leufs) rs80359852
NM_001017420.2(ESCO2):c.760dupA (p.Thr254Asnfs) rs80359852
NM_001021.5(RPS17):c.200_201delGA (p.Gly68Tyrfs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001024630.3(RUNX2):c.598A>G (p.Thr200Ala) rs104893993
NM_001024943.1(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_001031681.2(CTNS):c.198_218del21 (p.Ile67_Pro73del) rs113994204
NM_001031847.2(CPT1A):c.948delG (p.Ile317Serfs) rs80356800
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.2(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.2(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) rs71647806
NM_001039958.2(MESP2):c.500_503dup (p.Gly169Profs) rs113994158
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001042432.1(CLN3):c.461-280_677+382del rs1555468634
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001099274.1(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.1(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.2(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.2(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.3(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001110556.1(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.1(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.1(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.1(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.1(FLNA):c.65_66delAC (p.Thr23Alafs) rs80338840
NM_001114982.1(TP63):c.16A>C (p.Asn6His) rs113993963
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677
NM_001127713.1(ATL1):c.470T>G (p.Leu157Trp) rs119476051
NM_001128227.2(GNE):c.2228T>C (p.Met743Thr) rs28937594
NM_001129765.1(NSDHL):c.1098dupT (p.Arg367Serfs) rs121909834
NM_001129765.1(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_001129765.1(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_001129765.1(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_001129765.1(NSDHL):c.696_698delGAA (p.Lys232del) rs121909833
NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg) rs113994124
NM_001145320.1(ADAMTSL2):c.2586G>A (p.Trp862Ter) rs113994125
NM_001145320.1(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_001145320.1(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123
NM_001145320.1(ADAMTSL2):c.440C>T (p.Pro147Leu) rs113994121
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
NM_001146040.1(GLRA1):c.690C>A (p.Tyr230Ter) rs121918415
NM_001146040.1(GLRA1):c.777C>G (p.Ser259Arg) rs121918417
NM_001146040.1(GLRA1):c.815T>A (p.Ile272Asn) rs121918409
NM_001146040.1(GLRA1):c.832C>A (p.Pro278Thr) rs121918413
NM_001146040.1(GLRA1):c.862G>A (p.Val288Met) rs121918416
NM_001146040.1(GLRA1):c.882G>C (p.Gln294His) rs121918411
NM_001146040.1(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_001146040.1(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001184985.1(WNK1):c.3021dupA (p.Ser1008Ilefs) rs137852735
NM_001184985.1(WNK1):c.3046C>T (p.Gln1016Ter) rs111033590
NM_001193466.1(KANSL1):c.1652+1G>A rs281865470
NM_001193466.1(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.1(KANSL1):c.2785_2786delAG (p.Arg929Glyfs) rs281865471
NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) rs281865473
NM_001232.3(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001244008.1(KIF1A):c.2840delT (p.Leu947Argfs) rs587778791
NM_001256850.1(TTN):c.102966delA (p.Lys34322Asnfs) rs281864930
NM_001257180.1(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.1(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001277115.1(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855
NM_001277115.1(DNAH11):c.13531_*36del57 rs1554294478
NM_001277115.1(DNAH11):c.8533C>T (p.Arg2845Ter) rs121908854
NM_001281723.2(BTD):c.104_110delGCGGCTGinsTCC (p.Cys35Phefs) rs80338684
NM_001281723.2(BTD):c.1618C>T (p.Arg540Cys) rs80338686
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001282624.1(LMNA):c.342C>G (p.Asn114Lys) rs28933091
NM_001287.5(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001317924.1(WDR19):c.1649T>C (p.Leu550Ser) rs387906980
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001363.3(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.3(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.4(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.4(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.4(DKC1):c.109_111delCTT (p.Leu37del) rs137854489
NM_001363.4(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.4(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.4(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.4(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.4(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001369.2(DNAH5):c.10815delT (p.Pro3606Hisfs) rs397515540
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001457.3(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.3(FLNB):c.2452C>T (p.Arg818Ter) rs80356519
NM_001457.3(FLNB):c.4756G>A (p.Gly1586Arg) rs80356513
NM_001457.3(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520
NM_001457.3(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.3(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.3(FLNB):c.6408delC (p.Ser2137Leufs) rs80356521
NM_001457.3(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_001482.2(GATM):c.446G>A (p.Trp149Ter) rs80338737
NM_001482.2(GATM):c.484+1G>T rs80338738
NM_001845.5(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.5(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.5(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.5(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.5(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.5(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.5(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.5(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.5(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.5(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001876.3(CPT1A):c.(?_1744)_2107del (p.(?))
NM_001876.3(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.3(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.3(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.3(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_001876.3(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.3(CPT1A):c.1876-1G>A (p.Val626_Glu676del) rs80356798
NM_001876.3(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.3(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780
NM_001876.3(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.3(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001885.2(CRYAB):c.343delT (p.Ser115Profs) rs281865142
NM_001885.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001885.2(CRYAB):c.60del (p.Ser21Alafs) rs281865141
NM_001920.4(DCN):c.941delC (p.Pro314Hisfs) rs80338742
NM_001920.4(DCN):c.947delG (p.Gly316Aspfs) rs397515545
NM_001920.4(DCN):c.967delT (p.Ser323Leufs) rs80338741
NM_001927.3(DES):c.517_537del21 (p.Ala174_Arg180del) rs60538473
NM_002087.3(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002111.6(HTT):c.53_55[(41_?)] (p.Gln40(41_?)) rs71180116
NM_002230.2(JUP):c.116_118dupGCA (p.Ser39_Lys40insSer) rs113994176
NM_002230.2(JUP):c.2038_2039delTG (p.Trp680Glyfs) rs113994177
NM_002381.4(MATN3):c.209G>A (p.Arg70His) rs104893640
NM_002381.4(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002381.4(MATN3):c.910T>A (p.Cys304Ser) rs104893639
NM_002437.4(MPV17):c.148C>T (p.Arg50Trp) rs121909723
NM_002437.4(MPV17):c.149G>A (p.Arg50Gln) rs121909721
NM_002437.4(MPV17):c.186+2T>C rs147952488
NM_002437.4(MPV17):c.206G>A (p.Trp69Ter) rs267607261
NM_002437.4(MPV17):c.359G>A (p.Trp120Ter) rs121909724
NM_002437.4(MPV17):c.462-904_*601del1575insGCCTG
NM_002437.4(MPV17):c.498C>A (p.Asn166Lys) rs121909722
NM_002437.4(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258
NM_002449.4(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) rs80338827
NM_002473.5(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) rs80338831
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002529.3(NTRK1):c.1660delC (p.Arg554Glyfs) rs80356675
NM_002529.3(NTRK1):c.1860_1861insT (p.Pro621Serfs) rs80356676
NM_002529.3(NTRK1):c.851-33T>A rs80356674
NM_002609.3(PDGFRB):c.1973T>C (p.Leu658Pro) rs397509381
NM_002609.3(PDGFRB):c.2959C>T (p.Arg987Trp) rs397509382
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002734.3(PRKAR1A):c.491_492delTG (p.Val164Aspfs) rs281864790
NM_002739.3(PRKCG):c.2091_*98del102 rs1555808841
NM_002739.4(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.4(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.4(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.4(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.4(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002739.4(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.4(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.4(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002769.4(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.4(PRSS1):c.364C>T (p.Arg122Cys) rs111033568
NM_002769.4(PRSS1):c.365G>A (p.Arg122His) rs111033565
NM_002769.4(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.4(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002863.4(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.4(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.4(PYGL):c.1195C>T (p.Arg399Ter) rs113993978
NM_002863.4(PYGL):c.1620+1G>A rs113993981
NM_002863.4(PYGL):c.1768+1G>A rs113993982
NM_002863.4(PYGL):c.529-1G>C rs113993974
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002973.3:c.496_498CAG([33_?])
NM_002977.3(SCN9A):c.2543T>C (p.Ile848Thr) rs80356474
NM_002977.3(SCN9A):c.2572C>T (p.Leu858Phe) rs80356476
NM_002977.3(SCN9A):c.2573T>A (p.Leu858His) rs80356475
NM_002977.3(SCN9A):c.4345T>G (p.Phe1449Val) rs80356478
NM_002977.3(SCN9A):c.647T>C (p.Phe216Ser) rs80356469
NM_002977.3(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.3(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003035.2(STIL):c.2826+1G>A rs199422206
NM_003035.2(STIL):c.3655delG (p.Val1219Terfs) rs199422207
NM_003035.2(STIL):c.3715C>T (p.Gln1239Ter) rs121918609
NM_003221.3(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.3(TFAP2B):c.601+5G>A rs80338911
NM_003221.3(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.3(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.3(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.3(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.3(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003227.3(TFR2):c.2069A>C (p.Gln690Pro) rs80338889
NM_003227.3(TFR2):c.515T>A (p.Met172Lys) rs80338879
NM_003227.3(TFR2):c.750C>G (p.Tyr250Ter) rs80338880
NM_003227.3(TFR2):c.88_89insC (p.Arg30Profs) rs80338877
NM_003283.5(TNNT1):c.538G>T (p.Glu180Ter) rs80358249
NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003334.3(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.3(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.3(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_003383.4(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.4(VLDLR):c.2339delT (p.Ile780Thrfs) rs80338906
NM_003383.4(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003611.2(OFD1):c.111+2T>C rs312262809
NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) rs312262868
NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) rs312262886
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.2(OFD1):c.294_312delTGGTTTGGCAAAAGAAAAG (p.Ser98Argfs) rs312262821
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) rs312262830
NM_003611.2(OFD1):c.413-10T>G rs312262833
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) rs312262845
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) rs312262858
NM_003611.3(OFD1):c.2123_2126dup (p.Asn711Lysfs) rs312262890
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003722.4(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.4(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003850.2(SUCLA2):c.534+1G>A rs113994161
NM_003977.3(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.3(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.4(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.4(DCTN1):c.221A>C (p.Gln74Pro) rs72466487
NM_004085.3(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004211.4(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493
NM_004211.4(SLC6A5):c.1274C>T (p.Thr425Met) rs121908498
NM_004211.4(SLC6A5):c.1294delGinsTT (p.Val432Phefs) rs281864924
NM_004211.4(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494
NM_004211.4(SLC6A5):c.1526A>G (p.Asn509Ser) rs121908497
NM_004211.4(SLC6A5):c.1530T>G (p.Ser510Arg) rs281864926
NM_004211.4(SLC6A5):c.1888C>T (p.Gln630Ter) rs121908495
NM_004211.4(SLC6A5):c.916C>G (p.Leu306Val) rs121908496
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) rs80356713
NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) rs80356714
NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.4(ALK):c.3452C>T (p.Thr1151Met) rs113994091
NM_004304.4(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.4(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004364.4(CEBPA):c.68delC (p.Pro23Argfs) rs137852728
NM_004525.2(LRP2):c.2640-1G>A rs587776717
NM_004525.2(LRP2):c.8452+1G>A rs80338748
NM_004525.2(LRP2):c.8516_8519delTTTA (p.Tyr2840Cysfs) rs80338749
NM_004525.2(LRP2):c.9484_9485delGT (p.Val3162Leufs) rs80338751
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.1341+2T>G rs80338745
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004543.4(NEB):c.7432-2025_7536+372del
NM_004595.4(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.4(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.4(SMS):c.329+5G>A rs397515381
NM_004595.4(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.4(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004614.4(TK2):c.156+2T>C rs281865499
NM_004614.4(TK2):c.159C>G (p.Ile53Met) rs137854432
NM_004614.4(TK2):c.173A>G (p.Asn58Ser) rs138439950
NM_004614.4(TK2):c.268C>T (p.Arg90Cys) rs281865489
NM_004614.4(TK2):c.323C>T (p.Thr108Met) rs137854431
NM_004614.4(TK2):c.361C>A (p.His121Asn) rs137854429
NM_004614.4(TK2):c.416C>T (p.Ala139Val) rs281865494
NM_004614.4(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.4(TK2):c.562A>G (p.Thr188Ala) rs281865495
NM_004614.4(TK2):c.575G>A (p.Arg192Lys) rs281865496
NM_004614.4(TK2):c.604_606delAAG (p.Lys202del) rs281865501
NM_004614.4(TK2):c.635T>A (p.Ile212Asn) rs137854430
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_004700.3(KCNQ4):c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) rs80358271
NM_004700.3(KCNQ4):c.211delC (p.Gln71Serfs) rs80358272
NM_004700.3(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277
NM_004700.3(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004802.3(OTOF):c.3515G>A (p.Arg1172Gln) rs80356605
NM_004862.3(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_004862.3(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_004862.3(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_004937.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_004937.2(CTNS):c.559_561+24del27 rs113994211
NM_004937.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004937.2(CTNS):c.613G>A (p.Asp205Asn) rs113994208
NM_004937.2(CTNS):c.853-3C>G rs113994210
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005183.3(CACNA1F):c.3166dup (p.Leu1056Profs) rs80359870
NM_005211.3(CSF1R):c.1754-2A>G rs281860267
NM_005211.3(CSF1R):c.1897G>A (p.Glu633Lys) rs281860269
NM_005211.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
NM_005211.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr) rs281860279
NM_005247.2(FGF3):c.146A>G (p.Tyr49Cys) rs281860300
NM_005247.2(FGF3):c.17T>C (p.Leu6Pro) rs121917706
NM_005247.2(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005247.2(FGF3):c.255delT (p.Ile85Metfs) rs281860302
NM_005247.2(FGF3):c.310C>T (p.Arg104Ter) rs121917704
NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys) rs281860306
NM_005247.2(FGF3):c.457_458delTG (p.Trp153Valfs) rs281860307
NM_005247.2(FGF3):c.466T>C (p.Ser156Pro) rs121917703
NM_005247.2(FGF3):c.616delG (p.Val206Serfs) rs281860305
NM_005259.2(MSTN):c.373+5G>A rs397515373
NM_005272.3(GNAT2):c.461+24G>A rs397515384
NM_005333.4(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.4(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005378.5(MYCN):c.217G>T (p.Glu73Ter) rs113994115
NM_005413.3(SIX3):c.676C>G (p.Leu226Val) rs121917878
NM_005413.3(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005413.3(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005476.5(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.5(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.5(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.6(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.6(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005562.2(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005572.3(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.3(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_005572.3(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_005572.3(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_005629.3(SLC6A8):c.1222_1224delTTC (p.Phe408del) rs80338740
NM_005629.3(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.3(SLC6A8):c.321_323delCTT (p.Phe107del) rs80338739
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005982.3(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.3(SIX1):c.397_399delGAG (p.Glu133del) rs80356460
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006204.3(PDE6C):c.85C>T (p.Arg29Trp) rs121918537
NM_006205.2(PDE6H):c.35C>G (p.Ser12Ter) rs200311463
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006329.3(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.3(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.3(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006383.3(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006415.3(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.3(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.3(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.3(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006432.3(NPC2):c.27delG (p.Leu10Serfs) rs80358267
NM_006432.3(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) rs104894385
NM_006517.4(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.4(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.4(SLC16A2):c.1612delC (p.Pro538Glnfs) rs113994166
NM_006640.4(SEPTIN9):c.-134G>C rs80338760
NM_006640.4(SEPTIN9):c.262C>T (p.Arg88Trp) rs80338761
NM_006640.4(SEPTIN9):c.278C>T (p.Ser93Phe) rs80338762
NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.2(AFG3L2):c.2021_2022delCCinsTA (p.Ser674Leu) rs151344519
NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523
NM_006894.5(FMO3):c.458C>T (p.Pro153Leu) rs72549326
NM_006894.5(FMO3):c.913G>T (p.Glu305Ter) rs61753344
NM_007055.3(POLR3A):c.1909+18G>A rs267608677
NM_007055.3(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.3(POLR3A):c.2617-1G>A rs181087667
NM_007055.3(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.3(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682
NM_007055.3(POLR3A):c.418C>T (p.Arg140Ter) rs267608678
NM_007129.3(ZIC2):c.1366_1368(15_45) rs749567106
NM_007129.4(ZIC2):c.1040_1046del (p.Glu348Serfs) rs397515365
NM_007129.4(ZIC2):c.1318dup (p.Leu440Profs) rs397515364
NM_007129.4(ZIC2):c.177_178ins56
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs) rs80356708
NM_012203.1(GRHPR):c.404+3_404+6delAAGT rs180177309
NM_012330.3(KAT6B):c.3769_3772delTCTA (p.Lys1258Glyfs) rs199470470
NM_012330.3(KAT6B):c.4205_4206delCT (p.Ser1402Cysfs) rs199470477
NM_012330.3(KAT6B):c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) rs199470482
NM_012434.4(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794
NM_012434.4(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_012463.3(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750
NM_012463.3(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758
NM_012463.3(ATP6V0A2):c.294+1G>A rs80356751
NM_012472.5(LRRC6):c.220G>C (p.Ala74Pro) rs397514596
NM_012472.5(LRRC6):c.436G>C (p.Asp146His) rs200321595
NM_012472.5(LRRC6):c.574C>T (p.Gln192Ter) rs141945265
NM_012472.5(LRRC6):c.576dupA (p.Glu193Argfs) rs397515425
NM_012472.5(LRRC6):c.598_599delAA (p.Lys200Glufs) rs397515424
NM_013246.2(CLCF1):c.321C>A (p.Tyr107Ter) rs104894198
NM_013246.2(CLCF1):c.46T>C (p.Cys16Arg) rs137853934
NM_013246.2(CLCF1):c.590G>T (p.Arg197Leu) rs104894203
NM_014043.3(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.3(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.3(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014043.3(CHMP2B):c.85A>G (p.Ile29Val) rs63750818
NM_014251.2(SLC25A13):c.1177+1G>A rs80338722
NM_014251.2(SLC25A13):c.1311+1G>A rs80338723
NM_014251.2(SLC25A13):c.1638_1660dup23 (p.Ala554Glyfs) rs80338725
NM_014251.2(SLC25A13):c.1799dupA (p.Tyr600Terfs) rs80338726
NM_014251.2(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729
NM_014251.2(SLC25A13):c.615+5G>A rs80338717
NM_014251.2(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.2(SLC25A13):c.852_855delTATG (p.Met285Profs) rs80338720
NM_014252.3(SLC25A15):c.110T>G (p.Met37Arg) rs121908533
NM_014252.3(SLC25A15):c.212T>A (p.Leu71Gln) rs121908534
NM_014252.3(SLC25A15):c.535C>T (p.Arg179Ter) rs104894429
NM_014252.3(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424
NM_014252.3(SLC25A15):c.562_564delTTC (p.Phe188del) rs202247803
NM_014252.3(SLC25A15):c.79G>A (p.Gly27Arg) rs104894430
NM_014252.3(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535
NM_014252.3(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431
NM_014252.3(SLC25A15):c.95C>G (p.Thr32Arg) rs121908536
NM_014336.4(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs) rs281865117
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.540_541del (p.Cys181Terfs) rs80338806
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) rs80338865
NM_014846.3(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.3(WASHC5):c.2087G>C (p.Gly696Ala) rs397515564
NM_015166.3(MLC1):c.135dupC (p.Cys46Leufs) rs80358241
NM_015166.3(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.3(MLC1):c.278C>T (p.Ser93Leu) rs80358245
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.2826delT (p.Arg943Glufs) rs80356531
NM_015915.4(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.4(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.4(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.4(ATL1):c.773A>G (p.His258Arg) rs119476048
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.2(SBDS):c.258+1G>C rs113993992
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_016038.3(SBDS):c.120del (p.Ser41Alafs) rs113993990
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016616.4(NME8):c.1277T>A (p.Leu426Ter) rs121918300
NM_016616.4(NME8):c.271-27C>T rs117149381
NM_016938.4(EFEMP2):c.1070_1073dupCCGC (p.Asp359Argfs) rs193302865
NM_016938.4(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.4(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.4(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867
NM_016938.4(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.4(EFEMP2):c.577delC (p.Gln193Serfs) rs193302870
NM_016938.4(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864
NM_016938.4(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.4(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_017802.3(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017838.3(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.3(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.3(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017882.2(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) rs397515393
NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548
NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550
NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_018082.5(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.5(POLR3B):c.1533delT (p.Ile511Metfs) rs267608684
NM_018082.5(POLR3B):c.1568T>A rs138249161
NM_018082.5(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688
NM_018082.5(POLR3B):c.1857-2A>C rs267608686
NM_018082.5(POLR3B):c.2303G>A (p.Arg768His) rs267608687
NM_018082.5(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.5(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018122.5(DARS2):c.228-21_228-20delTTinsC rs1553201258
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208
NM_018122.5(DARS2):c.492+2T>C rs142433332
NM_018136.4(ASPM):c.1154_1155delAG (p.Glu385Valfs) rs199422137
NM_018136.4(ASPM):c.1179delT (p.Asn394Ilefs) rs199422138
NM_018136.4(ASPM):c.1260_1266delTCAAGTC (p.Gln421Hisfs) rs199422139
NM_018136.4(ASPM):c.1631_1635delATCTT (p.Tyr544Serfs) rs199422144
NM_018136.4(ASPM):c.1729_1730delAG (p.Ser577Argfs) rs199422146
NM_018136.4(ASPM):c.1959_1962delCAAA (p.Asn653Lysfs) rs199422147
NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.4(ASPM):c.349C>T (p.Arg117Ter) rs137852996
NM_018136.4(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.4(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161
NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858
NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.4(ASPM):c.4195dupA (p.Thr1399Asnfs) rs199422163
NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.4(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.4(ASPM):c.6337_6338delAT (p.Ile2113Serfs) rs199422169
NM_018136.4(ASPM):c.719_720delCT (p.Ser240Cysfs) rs199422135
NM_018136.4(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.4(ASPM):c.7782_7783delGA (p.Lys2595Serfs) rs199422173
NM_018136.4(ASPM):c.9159delA (p.Lys3053Asnfs) rs199422184
NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994
NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185
NM_018136.4(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194
NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195
NM_018249.5(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.5(CDK5RAP2):c.4005-15A>G rs387906274
NM_018418.4(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.4(SPATA7):c.1395delA (p.Gln465Hisfs) rs386834243
NM_018418.4(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018418.4(SPATA7):c.960dupA (p.Pro321Thrfs) rs386834241
NM_018451.4(CENPJ):c.17delC (p.Ser7Leufs) rs199422202
NM_018451.4(CENPJ):c.3243_3246delTCAG (p.Ser1081Argfs) rs199422203
NM_018451.4(CENPJ):c.3704A>T (p.Glu1235Val) rs121434311
NM_018648.3(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_018713.2(SLC30A10):c.1235delA (p.Gln412Argfs) rs281860292
NM_018713.2(SLC30A10):c.266T>C (p.Leu89Pro) rs281860284
NM_018713.2(SLC30A10):c.314_322delCCCGGCCCG (p.Ala105_Pro107del) rs281860285
NM_018713.2(SLC30A10):c.507delG (p.Pro170Leufs) rs281860287
NM_018713.2(SLC30A10):c.585delG (p.Thr196Profs) rs281860288
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018972.2(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.3(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.3(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.3(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020451.2(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_020919.3(ALS2):c.1007_1008delTA (p.Ile336Thrfs) rs386134175
NM_020919.3(ALS2):c.138del (p.Ala47Profs) rs386134173
NM_020919.3(ALS2):c.1425_1426del (p.Glu476Glyfs) rs386134176
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.3(ALS2):c.1867_1868del (p.Leu623Valfs) rs386134181
NM_020919.3(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.3(ALS2):c.2537_2538del (p.Asn846Ilefs) rs386134183
NM_020919.3(ALS2):c.2980-2A>G rs386134184
NM_020919.3(ALS2):c.2992C>T (p.Arg998Ter) rs121908137
NM_020919.3(ALS2):c.3619del (p.Met1207Terfs) rs386134187
NM_020919.3(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.3(ALS2):c.4721del (p.Val1574Alafs) rs386134188
NM_020919.3(ALS2):c.553del (p.Thr185Leufs) rs386134174
NM_021828.4(HPSE2):c.1465_1466delAA (p.Asn489Profs) rs397515338
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866
NM_021830.4(TWNK):c.1370C>T (p.Thr457Ile) rs80356544
NM_021830.4(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540
NM_021830.4(TWNK):c.952G>A (p.Ala318Thr) rs80356542
NM_021830.4(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.2089_2093dupAAGCA (p.Lys699Serfs) rs281865100
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.949_972dup24 (p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu) rs281865164
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_023036.4(DNAI2):c.787C>T (p.Arg263Ter) rs137852998
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.6407del (p.Pro2136Hisfs) rs367543064
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_024075.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969
NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.4(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900
NM_024312.4(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.4(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.4(GNPTAB):c.1399delG (p.Asp467Ilefs) rs397507448
NM_024312.4(GNPTAB):c.1580delC (p.Cys528Valfs) rs36007394
NM_024312.4(GNPTAB):c.1625_1626insC (p.Glu542Aspfs) rs281865027
NM_024312.4(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.4(GNPTAB):c.1959_1962delTAGT (p.Ser654Profs) rs281864983
NM_024312.4(GNPTAB):c.2574_2575delGA (p.Asn859Glnfs) rs281865029
NM_024312.4(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.4(GNPTAB):c.2693delA (p.Lys898Serfs) rs281864999
NM_024312.4(GNPTAB):c.2715+1G>A rs281865031
NM_024312.4(GNPTAB):c.2715+2T>G rs281865001
NM_024312.4(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.4(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896
NM_024312.4(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.4(GNPTAB):c.3335+1G>A rs34940801
NM_024312.4(GNPTAB):c.3335+6T>G rs34788341
NM_024312.4(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.4(GNPTAB):c.342_343delCA (p.Thr115Asnfs) rs281864954
NM_024312.4(GNPTAB):c.3443_3446delTTTG (p.Val1148Alafs) rs281865018
NM_024312.4(GNPTAB):c.3474_3475delTA (p.His1158Glnfs) rs281865038
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.4(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.4(GNPTAB):c.3741_3744delAGAA (p.Glu1248Leufs) rs281865022
NM_024312.4(GNPTAB):c.616_619delACAG (p.Thr206Tyrfs) rs281865024
NM_024312.4(GNPTAB):c.749dupA (p.Asn250Lysfs) rs281864964
NM_024312.4(GNPTAB):c.771G>A (p.Leu257=) rs281865025
NM_024408.3(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.3(NOTCH2):c.5930-1G>A rs312262798
NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024529.4(CDC73):c.679_680insAG (p.Arg227Lysfs) rs80356649
NM_024549.5(TCTN1):c.221-2A>G rs367543065
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1747_1748delAG (p.Arg583Alafs) rs80338924
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024596.4(MCPH1):c.427dupA (p.Thr143Asnfs) rs199422125
NM_024596.4(MCPH1):c.74C>G (p.Ser25Ter) rs121434305
NM_024747.5(HPS6):c.1713_1716delTCTG (p.Leu572Alafs) rs281865113
NM_024757.4(EHMT1):c.2193-1G>C rs137852720
NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025132.3(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025136.3(OPA3):c.143-1G>C rs80356523
NM_025136.3(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.3(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.3(OPA3):c.320_337del18 (p.Gln108_Glu113del) rs80356526
NM_025137.3(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.3(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.3(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.3(SPG11):c.2163dupT (p.Ile722Tyrfs) rs312262738
NM_025137.3(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.3(SPG11):c.2316+1G>A rs312262740
NM_025137.3(SPG11):c.2472_2473insT (p.Lys825Terfs) rs312262744
NM_025137.3(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.3(SPG11):c.4307_4308delAA (p.Gln1436Argfs) rs312262759
NM_025137.3(SPG11):c.442+1G>C rs312262715
NM_025137.3(SPG11):c.529_533delATATT (p.Ile177Serfs) rs312262716
NM_025137.3(SPG11):c.5410_5411delTG (p.Cys1804Profs) rs312262766
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.3(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767
NM_025137.3(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292
NM_025137.3(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464
NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.3(SPG11):c.642delT (p.Phe214Leufs) rs312262717
NM_025137.3(SPG11):c.6451delG (p.Ala2151Profs) rs312262779
NM_025137.3(SPG11):c.6739_6742delGAGT (p.Glu2247Leufs) rs312262782
NM_025137.3(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785
NM_025137.3(SPG11):c.6898_6899delCT (p.Leu2300Alafs) rs312262786
NM_025137.3(SPG11):c.7029dupT (p.Val2344Cysfs) rs312262788
NM_025137.3(SPG11):c.704_705delAT (p.His235Argfs) rs312262719
NM_025137.3(SPG11):c.7152-1G>C rs200079802
NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) rs312262720
NM_025137.3(SPG11):c.869+1G>A rs312262721
NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs) rs312262752
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025265.3(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031427.3(DNAL1):c.449A>G (p.Asn150Ser) rs387907021
NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_032383.4(HPS3):c.(-3010)_(217)+692del
NM_032383.4(HPS3):c.1163+1G>A rs201227603
NM_032383.4(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.4(HPS3):c.1691+2T>G rs281865093
NM_032383.4(HPS3):c.2482-2A>G rs397507168
NM_032383.4(HPS3):c.2589+1G>C rs281865095
NM_032520.4(GNPTG):c.196C>T (p.Arg66Ter) rs193302848
NM_032520.4(GNPTG):c.316G>A (p.Gly106Ser) rs137852885
NM_032520.4(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.4(GNPTG):c.611delG (p.Gly204Alafs) rs193302856
NM_032520.4(GNPTG):c.640_667del28 (p.Glu214Lysfs) rs193302859
NM_032580.3(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_032581.3(FAM126A):c.158T>C (p.Leu53Pro) rs72549407
NM_032581.3(FAM126A):c.414+1G>T rs72549406
NM_032581.3(FAM126A):c.51+1G>A rs72549405
NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) rs17860403
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) rs116840806
NM_033028.4(BBS4):c.157-2A>G rs113994192
NM_033028.4(BBS4):c.220+1G>C rs113994190
NM_033028.4(BBS4):c.77-220delA rs113994189
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033380.2(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_052873.2(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_052910.2(SLITRK1):c.*689G>A rs191284403
NM_052910.2(SLITRK1):c.1264del (p.Leu422Phefs) rs193302861
NM_052985.3(IFT122):c.1118C>T (p.Ser373Phe) rs267607192
NM_052985.3(IFT122):c.1658T>G (p.Val553Gly) rs267607191
NM_052985.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052985.3(IFT122):c.502+5G>A rs376595844
NM_053054.3(CATSPER1):c.539dupT (p.His182Profs) rs193929390
NM_053054.3(CATSPER1):c.944_948dupATGGC (p.Asp317Metfs) rs193929391
NM_080424.2(SP110):c.40delC (p.Gln14Serfs) rs397515362
NM_080424.2(SP110):c.642delC (p.Ser215Alafs) rs397515361
NM_080669.5(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208
NM_080669.5(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.5(SLC46A1):c.1082-1G>A rs80338775
NM_080669.5(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773
NM_080669.5(SLC46A1):c.194delG (p.Gly65Alafs) rs80338769
NM_080669.5(SLC46A1):c.204_205delCC (p.Asn68Lysfs) rs397515391
NM_080669.5(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.5(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770
NM_080669.5(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772
NM_080738.3(EDARADD):c.335T>G (p.Leu112Arg) rs121908116
NM_080738.3(EDARADD):c.424G>A (p.Glu142Lys) rs74315309
NM_133378.4(TTN):c.100076_100086delAAGTAACATGGinsTGAAAGAAAAA (p.Glu33359_Trp33362delinsValLysGluLys) rs281864927
NM_133378.4(TTN):c.100136T>A (p.Ile33379Asn) rs281864928
NM_133378.4(TTN):c.100163T>C (p.Leu33388Pro) rs267607156
NM_133378.4(TTN):c.97820_97827delACCAAGTG (p.Gln32608Hisfs) rs199469665
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_138638.4(CFL2):c.103G>A (p.Ala35Thr) rs80358250
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln) rs113994137
NM_139276.2(STAT3):c.1387_1389delGTG (p.Val463del) rs113994138
NM_139276.2(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_144997.5(FLCN):c.1285delC (p.His429Thrfs) rs80338682
NM_144997.5(FLCN):c.1285dupC (p.His429Profs) rs80338682
NM_152263.2(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.3(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.3(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.3(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.3(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.3(TPM3):c.857A>C (p.Ter286Ser) rs199474720
NM_152296.3(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) rs386834261
NM_152722.4(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_152722.4(HEPACAM):c.274C>T (p.Arg92Trp) rs387907055
NM_152722.4(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152778.2(MFSD8):c.754+2T>A rs587778809
NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_170707.3(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.3(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs) rs397515345
NM_173500.3(TTBK2):c.1284_1285delAG (p.Glu429Aspfs) rs80356539
NM_173500.3(TTBK2):c.1329dupA (p.Arg444Thrfs) rs80356538
NM_175875.4(SIX5):c.1093G>A (p.Gly365Arg) rs80356463
NM_175875.4(SIX5):c.472G>A (p.Ala158Thr) rs80356461
NM_175875.4(SIX5):c.886G>A (p.Ala296Thr) rs80356462
NM_178452.5(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_178452.5(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225
NM_181426.1(CCDC39):c.1072delA (p.Thr358Glnfs) rs587778822
NM_181426.1(CCDC39):c.2190del (p.Glu731Asnfs) rs587778820
NM_181426.2(CCDC39):c.357+1G>C rs397515392
NM_181507.1(HPS5):c.2025_2028delAGTT (p.Val676Metfs) rs281865103
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2624delT (p.Leu875Cysfs) rs281865105
NM_181507.1(HPS5):c.2928_2929dupGA (p.Thr977Argfs) rs397507169
NM_181507.1(HPS5):c.879dupC (p.Lys294Glnfs) rs281865101
NM_181714.3(LCA5):c.-1688_-298+207del1598
NM_181714.3(LCA5):c.1151delC (p.Pro384Glnfs) rs386834252
NM_181714.3(LCA5):c.1476dupA (p.Pro493Thrfs) rs386834253
NM_181714.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_183050.2(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.3(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183059.2(RD3):c.296+1G>A rs386834260
NM_194248.2(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.2(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.2(OTOF):c.2348delG (p.Gly783Alafs) rs80356591
NM_194248.2(OTOF):c.2887C>T (p.Arg963Ter) rs80356595
NM_194248.2(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.2(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.2(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.2(OTOF):c.4960+1G>C rs80356602
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.2(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.2(OTOF):c.766-2A>G rs80356584
NM_194318.3(B3GLCT):c.347+5G>A rs80338850
NM_194318.3(B3GLCT):c.660+1G>A rs80338851
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.219+1G>A rs199422309
NM_198253.2(TERT):c.2240delT (p.Val747Alafs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) rs34995376
NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_199292.2(TH):c.698G>A (p.Arg233His) rs80338892
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp) rs80338756
NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_207346.2(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.2(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_207352.3(CYP4V2):c.1091-2A>G rs199476183
NM_207352.3(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282
NM_207352.3(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204
NM_207352.3(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_207352.3(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.3(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283
NM_207352.3(CYP4V2):c.802-8_810del17insGC rs207482233
NM_207352.3(CYP4V2):c.992A>C (p.His331Pro) rs199476197
NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_212472.2(PRKAR1A):c.618_621del (p.Ile206Metfs) rs281864791
NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_212472.2(PRKAR1A):c.708+1G>T rs281864798
NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA rs281864801
NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_212472.2(PRKAR1A):c.891+3A>G rs281864799
NM_212550.4(BLOC1S3):c.448del (p.Gln150Argfs) rs281865116
NM_213599.2(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.2(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
NM_213599.2(ANO5):c.2311_2312delCA (p.Gln771Alafs) rs137854528
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NP_203699.1:p.?
NR_001566.1(TERC):n.107_108delGCinsAG rs199476393
NR_001566.1(TERC):n.110_113delGACT rs199422270
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.54_57delAACT rs199422263
NR_001566.1(TERC):n.58G>A rs113487931
NR_001566.1(TERC):n.72C>G rs199422265
NR_001566.1(TERC):n.98G>A rs199422268
PMP22, 1.4-MB DUP
RMRP:n.71A>G rs199476103
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
m.10663T>C rs1556423844
m.11696G>A rs200873900
m.12848C>T rs267606899
m.13730G>A rs387906425
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14495A>G rs199476106
m.14596A>T rs387906424
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4640C>A rs387906426
m.5244G>A rs199476115
m.9101T>C rs199476134
m.9804G>A rs200613617

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