ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Invitae

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
6719 2256 0 415 201 0 36 651

Significance breakdown #

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

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 3 0 2
likely pathogenic 29 0 13 1 0
uncertain significance 8 8 0 153 31
likely benign 0 0 13 0 142
benign 1 0 4 231 0

All variants with conflicting interpretations #

Total variants: 651
Download table as spreadsheet
HGVS dbSNP
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000085.4(CLCNKB):c.1297+5G>T rs35351345
NM_000085.4(CLCNKB):c.1409-6T>C rs115910575
NM_000085.4(CLCNKB):c.171G>A (p.Gly57=) rs150723240
NM_000085.4(CLCNKB):c.258G>A (p.Gly86=) rs143339401
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299
NM_000092.4(COL4A4):c.3506-8T>G rs761588725
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172
NM_000110.4(DPYD):c.2180-3T>C rs74104343
NM_000142.4(FGFR3):c.1023G>A (p.Ala341=) rs147833498
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137
NM_000162.5(GCK):c.363+9C>T rs200985182
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.3503+10G>A
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.5327-10C>T
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218
NM_000352.5(ABCC8):c.1630+10C>T rs188075767
NM_000352.5(ABCC8):c.1924-10C>T rs200823913
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.3558-7G>A rs900191703
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.6(ABCC8):c.1818-7del
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.6(ABCC8):c.3989-10C>T rs373737642
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000426.3(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1650C>T (p.Gly550=) rs899353
NM_000426.3(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.4436+8T>C rs192650285
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.5689G>A (p.Ala1897Thr) rs200518204
NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461
NM_000426.3(LAMA2):c.7118C>T (p.Ser2373Leu) rs758887080
NM_000426.3(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.3(LAMA2):c.9060G>A (p.Leu3020=) rs368896579
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=) rs183839795
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=) rs769454994
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.614G>C (p.Cys205Ser) rs201834803
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001146261.2(SYT14):c.1203A>G (p.Glu401=) rs376509952
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001160301.1(DPYD):c.451A>G (p.Asn151Asp) rs200562975
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=) rs192863290
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.17910T>C (p.His5970=) rs1175537809
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=) rs759484932
NM_001277269.1(OTOG):c.4274G>A (p.Arg1425Gln) rs143848095
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) rs567966154
NM_001277269.1(OTOG):c.8682G>A (p.Leu2894=) rs542151771
NM_001278064.2(GRM1):c.1433+10T>C rs373538200
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met) rs752403373
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=) rs116471335
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) rs142409803
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886
NM_001278064.2(GRM1):c.3206C>T (p.Pro1069Leu) rs79336287
NM_001278064.2(GRM1):c.444C>G (p.Pro148=) rs138794480
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001458.4(FLNC):c.5544C>T (p.Ser1848=) rs1350503435
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu) rs192047082
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001961.4(EEF2):c.1151-7C>T rs200181170
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
NM_002087.3(GRN):c.705C>A (p.Pro235=) rs148507354
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731
NM_002156.5(HSPD1):c.700+8C>T rs185384719
NM_002222.6(ITPR1):c.1404C>T (p.Phe468=) rs192247062
NM_002222.6(ITPR1):c.2682G>A (p.Lys894=) rs187516662
NM_002222.6(ITPR1):c.3588G>A (p.Ala1196=) rs199960483
NM_002222.6(ITPR1):c.3597G>A (p.Val1199=) rs201263269
NM_002222.6(ITPR1):c.3849C>T (p.His1283=) rs61757108
NM_002222.6(ITPR1):c.4771-8C>T rs41304179
NM_002222.6(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.6(ITPR1):c.5088G>A (p.Ser1696=) rs368425885
NM_002222.6(ITPR1):c.5277C>T (p.Asn1759=) rs113368815
NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=) rs371661663
NM_002222.6(ITPR1):c.5958C>T (p.Thr1986=) rs144178989
NM_002222.6(ITPR1):c.6159C>T (p.Asn2053=) rs182891619
NM_002222.6(ITPR1):c.6258C>T (p.Asn2086=) rs202123078
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.6909C>T (p.Gly2303=) rs41290672
NM_002222.6(ITPR1):c.7317C>T (p.Ser2439=) rs375227391
NM_002222.6(ITPR1):c.7797C>T (p.Thr2599=) rs368405302
NM_002222.6(ITPR1):c.789C>T (p.Phe263=) rs369681244
NM_002241.5(KCNJ10):c.771T>C (p.His257=) rs775848365
NM_002296.4(LBR):c.837+4C>T rs538103502
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln) rs146367309
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) rs190036021
NM_003482.3(KMT2D):c.14193G>A (p.Glu4731=) rs368920289
NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) rs369436545
NM_003482.3(KMT2D):c.6477C>T (p.Leu2159=) rs774164988
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990
NM_003680.3(YARS1):c.63T>C (p.Val21=) rs138749370
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348
NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=) rs143253425
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740
NM_004098.4(EMX2):c.591+6T>C rs202171958
NM_004115.3(FGF14):c.123C>T (p.Asn41=) rs372705140
NM_004115.3(FGF14):c.124G>T (p.Gly42Cys) rs141304687
NM_004115.3(FGF14):c.373A>G (p.Ile125Val) rs34073982
NM_004172.5(SLC1A3):c.1434C>G (p.Leu478=) rs778865549
NM_004172.5(SLC1A3):c.168C>T (p.Thr56=) rs751614772
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366
NM_004321.7(KIF1A):c.799-4G>A rs759945798
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) rs375328916
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro) rs752282314
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004621.6(TRPC6):c.1294-4G>A rs190191809
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994
NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) rs140626538
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.3482-7A>T rs73928326
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.43G>C (p.Gly15Arg) rs73928330
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_004960.3(FUS):c.1541+9_1541+10del rs761850706
NM_004980.4(KCND3):c.1062C>A (p.Ile354=) rs150934088
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.4(KIF5A):c.2538+8T>G rs377005699
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153
NM_005045.4(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.972G>C (p.Val324=) rs147790742
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005529.7(HSPG2):c.10204G>C (p.Val3402Leu) rs150666616
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324
NM_005910.5(MAPT):c.762G>A (p.Lys254=) rs141636979
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842
NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) rs763664146
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006796.2(AFG3L2):c.1866G>A (p.Leu622=) rs777264204
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) rs761143170
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652
NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.2262C>T (p.Ala754=) rs368022952
NM_006946.3(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.3(SPTBN2):c.2817-8G>T rs142540439
NM_006946.3(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378
NM_006946.3(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414
NM_006946.3(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497
NM_006946.3(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385
NM_006946.3(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145
NM_007375.3(TARDBP):c.669C>G (p.Pro223=) rs149517613
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=) rs148086431
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909
NM_013382.5(POMT2):c.2127G>A (p.Leu709=) rs138142899
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser) rs141575859
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=)
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
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.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528
NM_014625.3(NPHS2):c.182C>T (p.Ala61Val) rs201050491
NM_014625.3(NPHS2):c.451+3dup rs542240453
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.87C>G (p.Ala29=) rs12123397
NM_014846.4(WASHC5):c.1522-10T>A rs200283018
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015636.3(EIF2B4):c.369A>G (p.Gly123=) rs141872864
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310
NM_017837.3(PIGV):c.1369C>T (p.Leu457Phe) rs143676075
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633
NM_018109.3(MTPAP):c.1278T>C (p.Ser426=) rs147355590
NM_018109.3(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018319.4(TDP1):c.774G>A (p.Ala258=) rs139270583
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala) rs138732534
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584
NM_020247.5(COQ8A):c.730+7C>T rs370924314
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126
NM_021942.6(TRAPPC11):c.1894-10C>T rs111381550
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666
NM_023110.2(FGFR1):c.168G>A (p.Arg56=) rs147482922
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632
NM_024306.5(FA2H):c.271-8C>A rs199610820
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587
NM_024411.5(PDYN):c.121A>G (p.Asn41Asp) rs59191035
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.716G>A (p.Arg239Gln) rs185551108
NM_024577.3(SH3TC2):c.3313G>A (p.Val1105Met) rs750746661
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_030582.4(COL18A1):c.2422G>A (p.Ala808Thr) rs181012655
NM_030582.4(COL18A1):c.3224-9C>T rs1002126692
NM_030582.4(COL18A1):c.3937G>A (p.Gly1313Arg) rs199836125
NM_030582.4(COL18A1):c.4196G>A (p.Arg1399His) rs201006742
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635
NM_032119.4(ADGRV1):c.207+3A>G rs142356935
NM_032119.4(ADGRV1):c.22+9T>C rs368604803
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) rs551542832
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) rs149466797
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) rs151018278
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) rs142058362
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.646-6C>T rs200151467
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071
NM_080680.3(COL11A2):c.3583-5T>C rs183536190
NM_080680.3(COL11A2):c.4863+7G>A rs200947059
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
NM_138691.2(TMC1):c.924C>G (p.Asp308Glu) rs113342704
NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly) rs944860201
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529
NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys) rs79045813
NM_144696.6(AXDND1):c.3032-1887G>A rs780761368
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.4(LMNA):c.241T>C (p.Tyr81His) rs1553261977
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005
NM_175914.4(HNF4A):c.1176C>T (p.Asn392=) rs141448616
NM_175914.4(HNF4A):c.576C>T (p.Asp192=) rs759574096
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332
NM_182914.2(SYNE2):c.16480-10C>G rs768388576
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23791-7C>T rs375558499
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val) rs746060505
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465
NM_198994.3(TGM6):c.146A>T (p.Asp49Val) rs12106280
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911
NM_201384.3(PLEC):c.3081+9C>T rs371983298
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val) rs782278608
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His) rs757051705
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=) rs746811167
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274
Single allele rs28359170

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