ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and CeGaT Praxis fuer Humangenetik Tuebingen

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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
32 432 0 285 338 0 29 650

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
pathogenic 0 5 4 0
likely pathogenic 16 0 2 0
uncertain significance 7 11 0 22
likely benign 1 1 125 0
benign 2 1 191 264

All variants with conflicting interpretations #

Total variants: 650
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
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.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000144.5(FXN):c.123C>T (p.Gly41=) rs1057519131
NM_000144.5(FXN):c.384+8T>C rs367974156
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000815.5(GABRD):c.1060-7C>T rs368961588
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005746.4(CACNB4):c.-2T>G rs369342902
NM_001007792.1(NTRK1):c.1800G>A (p.Ala600=) rs17838192
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
NM_001037.5(SCN1B):c.449-3C>A rs370937269
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298
NM_001097577.3(ANG):c.61C>T (p.Pro21Ser) rs149672657
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127713.1(ATL1):c.1173C>T (p.His391=) rs149340140
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21404-4A>G rs72648965
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) rs551811137
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) rs2099130
NM_001267550.2(TTN):c.39709+6C>T rs72650067
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile) rs112915383
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002222.6(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.6(ITPR1):c.4771-8C>T rs41304179
NM_002222.6(ITPR1):c.5432T>G (p.Val1811Gly) rs143093165
NM_002222.6(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_002222.6(ITPR1):c.6723G>A (p.Pro2241=) rs200426774
NM_002222.6(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003895.3(SYNJ1):c.123G>A (p.Ala41=) rs61750221
NM_003919.3(SGCE):c.1253+814G>A rs183951730
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004082.4(DCTN1):c.2278A>G (p.Met760Val) rs754780894
NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383
NM_004082.4(DCTN1):c.3529+5G>A rs72466494
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004082.4(DCTN1):c.586A>G (p.Ile196Val) rs55862001
NM_004082.4(DCTN1):c.837G>A (p.Ala279=) rs72466489
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480
NM_004320.5(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004977.2(KCNC3):c.579C>G (p.Arg193=) rs138237939
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) rs201340369
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.474-7T>C rs55693709
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849
NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) rs144896235
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005910.5(MAPT):c.915+29G>A rs63751443
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006796.2(AFG3L2):c.1319-7C>T rs182327153
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918
NM_006946.3(SPTBN2):c.2064C>T (p.Gly688=) rs376219874
NM_006946.3(SPTBN2):c.2526C>T (p.Gly842=) rs144939155
NM_006946.3(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868
NM_006946.3(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428
NM_006946.3(SPTBN2):c.963C>T (p.Ile321=) rs1456985458
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384
NM_007375.3(TARDBP):c.669C>G (p.Pro223=) rs149517613
NM_007375.3(TARDBP):c.87C>T (p.Ser29=) rs201693535
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) rs45559331
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497
NM_015346.4(ZFYVE26):c.7417-5G>C rs201771769
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp) rs140694378
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018319.4(TDP1):c.1800G>A (p.Thr600=)
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020919.4(ALS2):c.1816-8C>T rs185911369
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_022089.4(ATP13A2):c.106-8G>A rs200587951
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434
NM_025137.4(SPG11):c.4744-6T>C rs147550048
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032667.6(BSCL2):c.-69C>T rs201493373
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val) rs548931873
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val) rs140833277
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153638.3(PANK2):c.137A>T (p.Asp46Val) rs148036492
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.1730-7G>A rs367603152
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=) rs368555478
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985
NM_199436.1(SPAST):c.1113_1116del (p.Phe371fs) rs1553317029
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser) rs373952777
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
Single allele rs28359170

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