ClinVar Miner

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

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
220 2240 0 526 553 1 19 1096

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 other
pathogenic 0 9 6 0 0 0
likely pathogenic 19 0 11 0 0 0
uncertain significance 1 0 0 21 5 0
likely benign 0 0 294 0 99 0
benign 1 1 233 399 0 1

All variants with conflicting interpretations #

Total variants: 1096
Download table as spreadsheet
HGVS dbSNP
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
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.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8987+3G>A rs56360226
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_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000257.4(MYH7):c.4353+10G>A rs202205780
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) rs200718262
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000451.3(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.3(SHOX):c.702G>A (p.Ala234=) rs576542942
NM_000451.3(SHOX):c.864G>A (p.Glu288=) rs781656634
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) rs794727118
NM_000726.4(CACNB4):c.288C>T (p.Ala96=) rs558998873
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042537.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083962.2(TCF4):c.790-9T>C rs373434281
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
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.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434
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.15906C>T (p.Val5302=) rs375179152
NM_001267550.2(TTN):c.16055-9A>C rs368897883
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
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.20025C>A (p.Ala6675=) rs373842558
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
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.21002A>G (p.Lys7001Arg) rs200594798
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428
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.21642C>T (p.Asn7214=) rs752620885
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
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.32049A>G (p.Lys10683=) rs375408527
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.32555-6T>C rs375742678
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
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.3835A>T (p.Met1279Leu) rs374497665
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44548+9A>G rs372725070
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764
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.47766C>T (p.Thr15922=) rs757006832
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216
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.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
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.63960T>A (p.Val21320=) rs397517655
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.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094
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.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227
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.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766
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.75682C>T (p.Pro25228Ser) rs377226540
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.76019T>A (p.Val25340Asp) rs200287703
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
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.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
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.93005G>T (p.Ser31002Ile) rs180975448
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252
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.95205C>T (p.Asp31735=) rs373182578
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
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.99991T>C (p.Cys33331Arg) rs56061641
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001277269.1(OTOG):c.8578-8C>T rs182750732
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001365068.1(ASTN2):c.2806+27336T>G rs368455215
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
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.5779C>T (p.Leu1927Phe) rs111558968
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val) rs184018403
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
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_001888.5(CRYM):c.807T>C (p.Phe269=) rs144588424
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067
NM_002222.6(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_002222.6(ITPR1):c.3849C>T (p.His1283=) rs61757108
NM_002222.6(ITPR1):c.5432T>G (p.Val1811Gly) rs143093165
NM_002222.6(ITPR1):c.7770C>T (p.Ile2590=) rs371988852
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3444C>T (p.Arg1148=) rs374937961
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) rs115736276
NM_002968.2(SALL1):c.2825C>A (p.Pro942His) rs751069468
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003179.2(SYP):c.687C>T (p.Ala229=) rs201427270
NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) rs369436545
NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) rs374077422
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.4072-3T>C rs751657094
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) rs147694734
NM_004006.2(DMD):c.8322G>A (p.Leu2774=) rs72466575
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del) rs756693906
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327
NM_004187.4(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004320.5(ATP2A1):c.663C>G (p.Gly221=) rs113803159
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004369.3(COL6A3):c.543T>C (p.Asp181=) rs898779231
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_004393.6(DAG1):c.286-10del rs747305463
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.210C>T (p.Arg70=) rs145048151
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831
NM_004977.2(KCNC3):c.123G>T (p.Gln41His) rs185017345
NM_004977.2(KCNC3):c.23C>G (p.Ser8Trp) rs761806977
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322
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.3839G>A (p.Gly1280Glu) rs55689103
NM_005045.4(RELN):c.474-7T>C rs55693709
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123
NM_005422.2(TECTA):c.1812C>T (p.Ser604=) rs138914618
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
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.1998+9C>T rs377228309
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
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.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784
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.777C>T (p.Ile259=) rs78388808
NM_006790.2(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.342C>T (p.Ser114=) rs34593399
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) rs199789331
NM_006790.2(MYOT):c.981T>C (p.Asn327=) rs148479015
NM_006883.2(SHOX):c.633+3540G>A rs746391025
NM_006920.6(SCN1A):c.694+10A>G rs373417440
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015
NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.689+10G>A rs45563234
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909
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.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013444.3(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
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.3074A>T (p.Asn1025Ile) rs150981983
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
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.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
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.1920C>G (p.Leu640=) rs141468012
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.2838T>C (p.Ala946=) rs375251871
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.306G>A (p.Ser102=) rs7229488
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.625-4T>A rs374509936
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.9754A>G (p.Asn3252Asp) rs147458358
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) rs200730202
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.276A>G (p.Ala92=) rs141855494
NM_018328.4(MBD5):c.3055-9T>C rs370173652
NM_018328.4(MBD5):c.3279C>T (p.Val1093=) rs35692977
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala) rs138732534
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020686.6(ABAT):c.816+7C>A rs376046736
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
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_020956.2(PRX):c.*2459G>A rs147587689
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
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_025219.3(DNAJC5):c.107+10C>T rs181906972
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188
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.4939A>G (p.Ile1647Val) rs72782753
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761
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.7806C>G (p.Pro2602=) rs200241260
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
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.2268G>A (p.Ala756=) rs149171782
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661
NM_080680.3(COL11A2):c.4863+7G>A rs200947059
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270
NM_153033.4(KCTD7):c.387C>T (p.Ala129=) rs140932942
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_172056.2(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172244.3(SGCD):c.717C>G (p.Asp239Glu) rs180898690
NM_173660.5(DOK7):c.-6C>G rs191800156
NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) rs373646325
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=) rs772377391
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922
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.11247G>A (p.Thr3749=) rs138882800
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.1730-7G>A rs367603152
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
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.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087
NM_182961.4(SYNE1):c.18972+4T>C rs774096623
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
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.24150C>T (p.His8050=) rs140259310
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24977-1786A>G rs377088951
NM_182961.4(SYNE1):c.25120-6A>G rs201898019
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
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.4377C>T (p.Ser1459=) rs146567226
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
NM_182961.4(SYNE1):c.779-9dup rs567435072
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674
NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) rs150727562
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267
NM_201384.3(PLEC):c.174+10G>A rs181850748
NM_201384.3(PLEC):c.174+10del rs528031000
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279
NM_201384.3(PLEC):c.2268C>T (p.Thr756=) rs371267446
NM_201384.3(PLEC):c.2458-8C>T rs201818691
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215
NM_201384.3(PLEC):c.2550C>G (p.Ala850=) rs376777606
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397
NM_201384.3(PLEC):c.2580G>A (p.Pro860=) rs782468518
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=) rs377059744
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=) rs782412831
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372
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.540C>T (p.Cys180=) rs189256993
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=) rs199990259
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=) rs200444977
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011
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.9351C>T (p.Phe3117=) rs200895343
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
Single allele rs28359170

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