ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2180
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HGVS dbSNP
FGD4, 893T-G
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
GRCh37/hg19 2q13(chr2:110824957-110983703)
MPZ, ASP195TYR
MPZ, THR216GLU-ARG
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
NC_000001.9:g.157610062_160185096del2575035
NC_000005.9:g.(?_148427405)_(148427572_?)del
NC_000005.9:g.(?_148442534)_(148442737_?)del
NC_000006.11:g.(?_110012619)_(110012724_?)del
NC_000006.11:g.(?_110062627)_(110064995_?)del
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000011.10:g.68934512_68934513GT[3]
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)del
NC_000012.11:g.(?_32729286)_(32772810_?)del
NC_000012.11:g.(?_32751411)_(32751540_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.123_125del (p.Val42del)
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_001015509.2(PTRH2):c.327G>A (p.Trp109Ter)
NM_001113491.2(SEPTIN9):c.722-6624T>C
NM_001127660.1(MFN2):c.*1797_*1799GTT[1] rs140537612
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001135242.2(NDRG1):c.64-20dup rs756038946
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*17-3C>T
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.*43C>T
NM_001136473.1(LITAF):c.*49G>A
NM_001136473.1(LITAF):c.*51G>A
NM_001136473.1(LITAF):c.*57G>A
NM_001136473.1(LITAF):c.*63C>T
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001303256.3(MORC2):c.1369+8_1369+9del
NM_001304480.1(FGD4):c.1569_1571AGA[3] (p.Glu526del) rs1264651352
NM_001304480.1(FGD4):c.193A>T (p.Ile65Leu) rs886049253
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_001304480.1(FGD4):c.2199_2200CA[1] (p.Thr734fs) rs1555223595
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001540.5(HSPB1):c.365-67C>T
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003172.4(SURF1):c.107-2A>G rs782726390
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_006096.3(NDRG1):c.*100G>A rs2233348
NM_006096.3(NDRG1):c.*1135G>A rs10675
NM_006096.3(NDRG1):c.*1195G>T rs561506934
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*1296C>T rs886062711
NM_006096.3(NDRG1):c.*1340G>A rs12668
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1622T>G rs7825439
NM_006096.3(NDRG1):c.*1706G>A rs781277187
NM_006096.3(NDRG1):c.*184G>A rs778104868
NM_006096.3(NDRG1):c.*201A>T rs886062715
NM_006096.3(NDRG1):c.*264C>G rs73711834
NM_006096.3(NDRG1):c.*306C>T rs886062714
NM_006096.3(NDRG1):c.*402C>T rs551081194
NM_006096.3(NDRG1):c.*618T>G rs886062713
NM_006096.3(NDRG1):c.*653T>C rs147301529
NM_006096.3(NDRG1):c.*677C>T rs886062712
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*69C>T rs114738844
NM_006096.3(NDRG1):c.*711C>T rs16904866
NM_006096.3(NDRG1):c.*834T>A rs79281324
NM_006096.3(NDRG1):c.*866A>T rs16904865
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.-120C>T rs11575971
NM_006096.3(NDRG1):c.-123T>G rs886062718
NM_006096.3(NDRG1):c.-128C>T rs886062719
NM_006096.3(NDRG1):c.-157C>T rs545130040
NM_006096.3(NDRG1):c.-173G>A rs886062720
NM_006096.3(NDRG1):c.-19+14C>G rs886062716
NM_006096.3(NDRG1):c.-64G>A rs886062717
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln)
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp)
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu)
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=)
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr)
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg)
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp)
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) rs780329667
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly)
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr)
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.326+1G>A
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=)
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro)
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg)
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu)
NM_006096.3(NDRG1):c.571G>A (p.Val191Met)
NM_006096.3(NDRG1):c.582C>G (p.His194Gln)
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys)
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala)
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.855+14_855+15del rs780070007
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu)
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs)
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) rs121434299
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) rs121434300
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) rs28939072
NM_014629.4(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) rs4875950
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.2143+13T>G rs2294041
NM_014629.4(ARHGEF10):c.2259+8T>C rs1015159398
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020
NM_014629.4(ARHGEF10):c.3398-16A>G rs7832438
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) rs749822
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) rs1563343679
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) rs7003969
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile) rs28940281
NM_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*150_*151del rs886060986
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-112G>A rs757848529
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-124A>G rs544958043
NM_014845.5(FIG4):c.-132A>G rs548471516
NM_014845.5(FIG4):c.-134C>G rs560811735
NM_014845.5(FIG4):c.-138T>C rs550585093
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.-84A>G rs764845399
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His)
NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly)
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val)
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1271+5A>G
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly)
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp)
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr)
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1750+3A>G
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln)
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser)
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2181-10C>A
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2459+5G>A
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-11A>G rs745613994
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-4A>G rs886060985
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys)
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.290-2A>G
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys)
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del)
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe)
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu)
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr)
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
NM_014874.3(MFN2):c.*1068C>T rs886045229
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1153C>T rs542684406
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*121A>G rs886045222
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1276G>A rs766342161
NM_014874.3(MFN2):c.*1295G>A rs763783578
NM_014874.3(MFN2):c.*1392A>G rs886045230
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1539G>A rs557643473
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*1640del rs35943162
NM_014874.3(MFN2):c.*1640dup rs35943162
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*1794_*1796del rs540280019
NM_014874.3(MFN2):c.*221_*222dup rs558848411
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*256G>A rs557772799
NM_014874.3(MFN2):c.*297T>A rs886045224
NM_014874.3(MFN2):c.*36G>A rs377468070
NM_014874.3(MFN2):c.*413C>T rs558887681
NM_014874.3(MFN2):c.*57C>T rs886045221
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*610del rs747291228
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*864T>C rs886045226
NM_014874.3(MFN2):c.*870C>T rs886045227
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.*935G>T rs886045228
NM_014874.3(MFN2):c.*946C>A rs765105334
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-328T>A rs886045217
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
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.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
NM_015074.3(KIF1B):c.1977+7159A>G
NM_015074.3(KIF1B):c.1977+7161C>A
NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*1226_*1228del rs142663762
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1343_*1344del rs886048765
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*1888del rs775823662
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*2357T>C rs886048762
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn)
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser)
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr)
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly)
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln)
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met)
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg)
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr)
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) rs886048771
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)
NM_016156.5(MTMR2):c.1479+1G>A
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1594-9T>G
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp)
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu)
NM_016156.5(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.1878_1879AG[6] (p.Ala629fs) rs751292488
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly)
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met)
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile)
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys)
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr)
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe)
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys)
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg)
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr)
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
NM_018972.4(GDAP1):c.118-3C>G
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_020956.2(PRX):c.*1020C>T
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1038C>T rs886054440
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1052G>A
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1151G>C rs1555801306
NM_020956.2(PRX):c.*1165G>A rs775367319
NM_020956.2(PRX):c.*1171G>T rs139544245
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1197C>T
NM_020956.2(PRX):c.*1199A>G rs143710873
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*1218C>T rs1368840723
NM_020956.2(PRX):c.*1224C>T rs780373582
NM_020956.2(PRX):c.*1231A>C rs150772010
NM_020956.2(PRX):c.*1245G>A
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1292C>G rs886054439
NM_020956.2(PRX):c.*1296G>A
NM_020956.2(PRX):c.*1305C>A rs143400291
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1346A>C rs1049349860
NM_020956.2(PRX):c.*1349C>G
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1416G>A
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1460A>T
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1574G>C rs142064826
NM_020956.2(PRX):c.*1592G>T
NM_020956.2(PRX):c.*1595C>T
NM_020956.2(PRX):c.*1596G>A rs553211374
NM_020956.2(PRX):c.*1665C>T
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1715C>T rs192607896
NM_020956.2(PRX):c.*1743C>T
NM_020956.2(PRX):c.*1751C>T rs144305922
NM_020956.2(PRX):c.*1773T>C rs550446238
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783_*1806dup rs764208864
NM_020956.2(PRX):c.*1790A>G
NM_020956.2(PRX):c.*1818T>C rs765791679
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*1863A>G rs879254301
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*1923A>G rs1289149165
NM_020956.2(PRX):c.*1995A>G
NM_020956.2(PRX):c.*2018C>T rs1555801070
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2042G>A rs773222045
NM_020956.2(PRX):c.*2096C>G rs886054438
NM_020956.2(PRX):c.*2103A>T
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2111C>T
NM_020956.2(PRX):c.*2140C>T rs763132536
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2170G>A
NM_020956.2(PRX):c.*2184C>T rs748737580
NM_020956.2(PRX):c.*2204C>G
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2238T>C rs1568706919
NM_020956.2(PRX):c.*2240C>T
NM_020956.2(PRX):c.*2241G>A rs145856805
NM_020956.2(PRX):c.*2261C>A
NM_020956.2(PRX):c.*2276A>C rs886054437
NM_020956.2(PRX):c.*2282C>G rs758696889
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2339C>T
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2363C>T
NM_020956.2(PRX):c.*2369A>G rs376309142
NM_020956.2(PRX):c.*2414G>A rs1237761863
NM_020956.2(PRX):c.*2420G>A rs779294844
NM_020956.2(PRX):c.*2426C>T
NM_020956.2(PRX):c.*2448C>T
NM_020956.2(PRX):c.*2487C>T rs530370432
NM_020956.2(PRX):c.*2490A>G
NM_020956.2(PRX):c.*2494del rs797045102
NM_020956.2(PRX):c.*2497C>G rs142637195
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2498G>A
NM_020956.2(PRX):c.*2498G>T
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2516G>C rs1568706134
NM_020956.2(PRX):c.*2558A>G
NM_020956.2(PRX):c.*2645T>C
NM_020956.2(PRX):c.*2654C>T rs147441856
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2739C>T
NM_020956.2(PRX):c.*2741C>T rs765595266
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2778A>G
NM_020956.2(PRX):c.*2810G>A rs1555800819
NM_020956.2(PRX):c.*2825G>A rs145790961
NM_020956.2(PRX):c.*2846C>T rs375201649
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2856G>A rs139005780
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2882G>A rs201270794
NM_020956.2(PRX):c.*2894C>T
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2933G>A rs145203783
NM_020956.2(PRX):c.*2936G>A
NM_020956.2(PRX):c.*2951G>C rs775152960
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*3021C>G rs761769929
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3059G>C rs1060502972
NM_020956.2(PRX):c.*3081T>C rs1568704784
NM_020956.2(PRX):c.*3114G>A
NM_020956.2(PRX):c.*3121G>T rs1555800751
NM_020956.2(PRX):c.*3126_*3146del
NM_020956.2(PRX):c.*3138A>G rs767386430
NM_020956.2(PRX):c.*3182A>T
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3242G>A
NM_020956.2(PRX):c.*3246T>C
NM_020956.2(PRX):c.*3299G>A rs772431799
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3414G>A rs146222815
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3425G>A rs886054436
NM_020956.2(PRX):c.*3443C>T
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3557G>A
NM_020956.2(PRX):c.*3557G>T rs143654708
NM_020956.2(PRX):c.*3581C>A rs1483705612
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3605G>T rs786204203
NM_020956.2(PRX):c.*3621A>G rs1268527552
NM_020956.2(PRX):c.*3623G>A
NM_020956.2(PRX):c.*3624A>T rs923473427
NM_020956.2(PRX):c.*3652C>T
NM_020956.2(PRX):c.*3713G>A
NM_020956.2(PRX):c.*3754C>T rs367876251
NM_020956.2(PRX):c.*3767C>A
NM_020956.2(PRX):c.*3767C>T rs878855284
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3788C>T rs1555800544
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3908G>T rs1385904344
NM_020956.2(PRX):c.*3912C>T
NM_020956.2(PRX):c.*3922C>T
NM_020956.2(PRX):c.*3927G>A
NM_020956.2(PRX):c.*3974G>A rs200332462
NM_020956.2(PRX):c.*3980G>A rs751742049
NM_020956.2(PRX):c.*4004G>A rs542711361
NM_020956.2(PRX):c.*4007G>A rs146061247
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4040G>C rs747247972
NM_020956.2(PRX):c.*4050C>T rs753530396
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4054A>G rs757247849
NM_020956.2(PRX):c.*4058G>A rs374370759
NM_020956.2(PRX):c.*4068A>T rs1568702462
NM_020956.2(PRX):c.*4073G>A rs773955274
NM_020956.2(PRX):c.*4073G>T
NM_020956.2(PRX):c.*4091G>C
NM_020956.2(PRX):c.*4124C>T
NM_020956.2(PRX):c.*4140G>T
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4209G>A
NM_020956.2(PRX):c.*4222C>A
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4263A>C rs1555800424
NM_020956.2(PRX):c.*4264_*4266GGA[6] rs139624657
NM_020956.2(PRX):c.*4313C>A
NM_020956.2(PRX):c.*4314G>A rs756687548
NM_020956.2(PRX):c.*4316C>T rs753339248
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4320G>T rs751906783
NM_020956.2(PRX):c.*4322C>T rs766729202
NM_020956.2(PRX):c.*4323G>A rs763294661
NM_020956.2(PRX):c.*4324_*4329GGTCCG[3]
NM_020956.2(PRX):c.*4326T>G rs773512610
NM_020956.2(PRX):c.*4334C>T rs768524850
NM_020956.2(PRX):c.*4335G>A
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4362C>A rs372582520
NM_020956.2(PRX):c.*4376C>G rs369072136
NM_020956.2(PRX):c.*4376C>T rs369072136
NM_020956.2(PRX):c.*4401C>T rs764183288
NM_020956.2(PRX):c.*4412G>A rs139051512
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4429C>G rs1555800370
NM_020956.2(PRX):c.*4436C>T
NM_020956.2(PRX):c.*4437G>T
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*4470G>A
NM_020956.2(PRX):c.*4475G>A rs754032938
NM_020956.2(PRX):c.*4475G>C
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4509T>C rs878855285
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*4554C>T
NM_020956.2(PRX):c.*4571G>C rs149093940
NM_020956.2(PRX):c.*4581C>T rs373051724
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*662C>T rs760295364
NM_020956.2(PRX):c.*666T>C rs1555801518
NM_020956.2(PRX):c.*674G>A
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*690A>C rs879254072
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*705G>A
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*708G>A rs763833871
NM_020956.2(PRX):c.*714T>C rs1387520113
NM_020956.2(PRX):c.*744C>T rs540526276
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*764C>T
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*792G>C
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.*833G>A
NM_020956.2(PRX):c.*836G>T rs112973322
NM_020956.2(PRX):c.*839C>A rs771156102
NM_020956.2(PRX):c.*846C>G
NM_020956.2(PRX):c.*878G>T
NM_020956.2(PRX):c.*887C>G
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*888G>A rs562108874
NM_020956.2(PRX):c.*923C>T rs199863083
NM_020956.2(PRX):c.*935G>A
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.*945G>A rs1568709200
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.-114T>G rs367716653
NM_020956.2(PRX):c.-143G>A rs559995627
NM_020956.2(PRX):c.-160C>T rs763423646
NM_020956.2(PRX):c.-198-14C>T rs886054442
NM_020956.2(PRX):c.-199+7G>C rs541213273
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.13A>G (p.Ser5Gly)
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.176T>C (p.Leu59Pro)
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
NM_020956.2(PRX):c.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile)
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_020956.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_020956.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_020956.2(PRX):c.80C>A (p.Thr27Asn) rs1291881750
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln)
NM_024577.3(SH3TC2):c.*10006A>T rs201998002
NM_024577.3(SH3TC2):c.*10010A>T rs886060145
NM_024577.3(SH3TC2):c.*10010_*10013dupATCC rs201323132
NM_024577.3(SH3TC2):c.*10018A>T rs866934630
NM_024577.3(SH3TC2):c.*10022A>T rs56245745
NM_024577.3(SH3TC2):c.*10052C>T rs113802539
NM_024577.3(SH3TC2):c.*10060C>A rs886060143
NM_024577.3(SH3TC2):c.*1006C>T rs886060185
NM_024577.3(SH3TC2):c.*10079A>G rs886060142
NM_024577.3(SH3TC2):c.*10083A>G rs886060141
NM_024577.3(SH3TC2):c.*10099A>T rs570266229
NM_024577.3(SH3TC2):c.*10101C>T rs552099019
NM_024577.3(SH3TC2):c.*10103A>T rs754724940
NM_024577.3(SH3TC2):c.*10103_*10110delACCAACCA rs57301725
NM_024577.3(SH3TC2):c.*10105C>T rs753563756
NM_024577.3(SH3TC2):c.*10107_*10110delACCA rs57301725
NM_024577.3(SH3TC2):c.*10107_*10110dupACCA rs57301725
NM_024577.3(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.3(SH3TC2):c.*10120C>A rs13355933
NM_024577.3(SH3TC2):c.*10132A>G rs886060138
NM_024577.3(SH3TC2):c.*10177T>A rs149759395
NM_024577.3(SH3TC2):c.*10485G>A rs76931184
NM_024577.3(SH3TC2):c.*10505A>G rs886060137
NM_024577.3(SH3TC2):c.*10546C>T rs186003687
NM_024577.3(SH3TC2):c.*10573T>C rs886060136
NM_024577.3(SH3TC2):c.*10756G>T rs886060135
NM_024577.3(SH3TC2):c.*10767G>A rs139720866
NM_024577.3(SH3TC2):c.*10863C>T rs181346624
NM_024577.3(SH3TC2):c.*10864G>A rs189701174
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*10968G>A rs13166730
NM_024577.3(SH3TC2):c.*10984G>T rs868782614
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*11054G>C rs886060134
NM_024577.3(SH3TC2):c.*11055T>C rs886060133
NM_024577.3(SH3TC2):c.*11120G>A rs2069087
NM_024577.3(SH3TC2):c.*11160C>T rs886060132
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*11506C>T rs886060131
NM_024577.3(SH3TC2):c.*11542G>A rs886060130
NM_024577.3(SH3TC2):c.*11593G>A rs886060129
NM_024577.3(SH3TC2):c.*11621G>A rs886060128
NM_024577.3(SH3TC2):c.*11852G>T rs13359285
NM_024577.3(SH3TC2):c.*12088_*12091del rs886060127
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.3(SH3TC2):c.*12114dup rs886060125
NM_024577.3(SH3TC2):c.*12126C>T rs886060124
NM_024577.3(SH3TC2):c.*12146C>G rs886060123
NM_024577.3(SH3TC2):c.*122G>T rs114151926
NM_024577.3(SH3TC2):c.*12469T>A rs886060122
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*1254T>C rs752672326
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12653C>A rs886060121
NM_024577.3(SH3TC2):c.*12752T>A rs886060120
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*12969C>A rs76955068
NM_024577.3(SH3TC2):c.*1309C>T rs1007401
NM_024577.3(SH3TC2):c.*1310G>A rs886060184
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13293T>C rs886060119
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*13465C>A rs186009343
NM_024577.3(SH3TC2):c.*13514A>G rs78516040
NM_024577.3(SH3TC2):c.*13598A>G rs141011337
NM_024577.3(SH3TC2):c.*13923T>C rs534282709
NM_024577.3(SH3TC2):c.*14411G>A rs143623684
NM_024577.3(SH3TC2):c.*14429T>G rs577465518
NM_024577.3(SH3TC2):c.*14562G>A rs17109198
NM_024577.3(SH3TC2):c.*14621G>T rs17795097
NM_024577.3(SH3TC2):c.*14628C>T rs886060118
NM_024577.3(SH3TC2):c.*14766T>A rs891919
NM_024577.3(SH3TC2):c.*14781C>A rs886060117
NM_024577.3(SH3TC2):c.*147A>T rs147796833
NM_024577.3(SH3TC2):c.*14827T>A rs569378409
NM_024577.3(SH3TC2):c.*14856C>A rs891920
NM_024577.3(SH3TC2):c.*14894G>A rs17109192
NM_024577.3(SH3TC2):c.*14985A>G rs886060116
NM_024577.3(SH3TC2):c.*15061C>T rs115722370
NM_024577.3(SH3TC2):c.*15062G>A rs886060115
NM_024577.3(SH3TC2):c.*15125C>G rs181229340
NM_024577.3(SH3TC2):c.*15235A>G rs145210501
NM_024577.3(SH3TC2):c.*15311del rs886060114
NM_024577.3(SH3TC2):c.*15339G>A rs886060113
NM_024577.3(SH3TC2):c.*15383C>A rs186004627
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*15680T>C rs886060112
NM_024577.3(SH3TC2):c.*15823T>A rs4562031
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*15824G>A rs530880070
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*16056C>T rs147906062
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16257T>C rs572081330
NM_024577.3(SH3TC2):c.*16261C>T rs150690882
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*1639T>C rs1007400
NM_024577.3(SH3TC2):c.*16507C>T rs886060111
NM_024577.3(SH3TC2):c.*16509A>G rs886060110
NM_024577.3(SH3TC2):c.*16562G>T rs369963209
NM_024577.3(SH3TC2):c.*16631G>A rs4705303
NM_024577.3(SH3TC2):c.*16711C>G rs886060109
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16855A>G rs886060108
NM_024577.3(SH3TC2):c.*16896_*16901dupCACACA rs71957589
NM_024577.3(SH3TC2):c.*16898_*16901delCACA rs71957589
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*16900_*16901dupCA rs71957589
NM_024577.3(SH3TC2):c.*16902G>A rs886060107
NM_024577.3(SH3TC2):c.*16905T>G rs886060105
NM_024577.3(SH3TC2):c.*16928A>G rs760134609
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17036C>G rs75086059
NM_024577.3(SH3TC2):c.*17036C>T rs75086059
NM_024577.3(SH3TC2):c.*17192C>T rs886060104
NM_024577.3(SH3TC2):c.*17317G>A rs78254952
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*17662T>C rs556308084
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*17833T>G rs886060103
NM_024577.3(SH3TC2):c.*17903A>G rs76444127
NM_024577.3(SH3TC2):c.*18234G>A rs886060102
NM_024577.3(SH3TC2):c.*18299C>T rs147903089
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18483dup rs536826583
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*18635C>T rs886060101
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*19040A>G rs930205
NM_024577.3(SH3TC2):c.*1909G>T rs998304
NM_024577.3(SH3TC2):c.*19182A>C rs886060100
NM_024577.3(SH3TC2):c.*19250T>A rs886060099
NM_024577.3(SH3TC2):c.*19270G>A rs149188140
NM_024577.3(SH3TC2):c.*19342A>G rs886060098
NM_024577.3(SH3TC2):c.*1935T>C rs6883926
NM_024577.3(SH3TC2):c.*19406A>G rs72835351
NM_024577.3(SH3TC2):c.*19406A>T rs72835351
NM_024577.3(SH3TC2):c.*19411T>C rs780022559
NM_024577.3(SH3TC2):c.*1942del rs886060183
NM_024577.3(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.3(SH3TC2):c.*19519G>A rs10039839
NM_024577.3(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19573G>A rs4560536
NM_024577.3(SH3TC2):c.*1979C>T rs886060181
NM_024577.3(SH3TC2):c.*1982C>A rs535127091
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*19989G>A rs560779315
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20166T>A rs17795091
NM_024577.3(SH3TC2):c.*20362T>C rs571268825
NM_024577.3(SH3TC2):c.*20412A>T rs774453230
NM_024577.3(SH3TC2):c.*20463T>C rs77021631
NM_024577.3(SH3TC2):c.*20469C>T rs886060097
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*20773G>T rs113020040
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.3(SH3TC2):c.*210C>A rs886060192
NM_024577.3(SH3TC2):c.*21118G>T rs886060095
NM_024577.3(SH3TC2):c.*21395T>C rs886060094
NM_024577.3(SH3TC2):c.*2141C>T rs535223944
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC rs146796490
NM_024577.3(SH3TC2):c.*21532C>A rs763141563
NM_024577.3(SH3TC2):c.*21539T>C rs542529184
NM_024577.3(SH3TC2):c.*21658A>G rs145964634
NM_024577.3(SH3TC2):c.*21703G>A rs761390238
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*21955A>G rs575501943
NM_024577.3(SH3TC2):c.*22034C>T rs886060093
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22168C>G rs886060092
NM_024577.3(SH3TC2):c.*22199C>T rs778637809
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22291T>C rs886060091
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*2248A>G rs187399485
NM_024577.3(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.3(SH3TC2):c.*22553del rs55932017
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2361A>T rs146327509
NM_024577.3(SH3TC2):c.*2394C>T rs368101139
NM_024577.3(SH3TC2):c.*2397G>A rs17722155
NM_024577.3(SH3TC2):c.*2428C>T rs149384180
NM_024577.3(SH3TC2):c.*2500C>A rs559833500
NM_024577.3(SH3TC2):c.*2624A>G rs762855152
NM_024577.3(SH3TC2):c.*281A>G rs886060191
NM_024577.3(SH3TC2):c.*2862G>A rs116548620
NM_024577.3(SH3TC2):c.*2900G>T rs3763019
NM_024577.3(SH3TC2):c.*2956C>T rs3763020
NM_024577.3(SH3TC2):c.*2982T>C rs886060180
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3058A>G rs563916447
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*3165G>A rs886060179
NM_024577.3(SH3TC2):c.*3196T>C rs3763022
NM_024577.3(SH3TC2):c.*3202T>C rs188625202
NM_024577.3(SH3TC2):c.*3411C>T rs886060178
NM_024577.3(SH3TC2):c.*341A>G rs868833114
NM_024577.3(SH3TC2):c.*3430T>A rs184043381
NM_024577.3(SH3TC2):c.*3694T>A rs115774169
NM_024577.3(SH3TC2):c.*3860G>A rs1432797
NM_024577.3(SH3TC2):c.*3903A>G rs750071171
NM_024577.3(SH3TC2):c.*391G>C rs117139060
NM_024577.3(SH3TC2):c.*4131T>C rs141113906
NM_024577.3(SH3TC2):c.*4182A>G rs886060177
NM_024577.3(SH3TC2):c.*4183T>C rs886060176
NM_024577.3(SH3TC2):c.*4209A>G rs886060175
NM_024577.3(SH3TC2):c.*4232G>A rs886060174
NM_024577.3(SH3TC2):c.*4240C>A rs765837919
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4409T>A rs886060173
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4511T>C rs578024597
NM_024577.3(SH3TC2):c.*4555A>G rs117287440
NM_024577.3(SH3TC2):c.*4604G>A rs886060172
NM_024577.3(SH3TC2):c.*4691C>T rs574710725
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*4719C>G rs6885467
NM_024577.3(SH3TC2):c.*47C>T rs79738100
NM_024577.3(SH3TC2):c.*4920T>G rs550230926
NM_024577.3(SH3TC2):c.*4935A>T rs149921013
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*5279del rs573168274
NM_024577.3(SH3TC2):c.*5304G>A rs886060171
NM_024577.3(SH3TC2):c.*5305C>A rs886060170
NM_024577.3(SH3TC2):c.*5368C>T rs189202481
NM_024577.3(SH3TC2):c.*5419G>A rs886060169
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.*5576C>T rs886060168
NM_024577.3(SH3TC2):c.*5634C>A rs565468168
NM_024577.3(SH3TC2):c.*5666A>G rs749263197
NM_024577.3(SH3TC2):c.*5689A>C rs537285537
NM_024577.3(SH3TC2):c.*5740C>T rs886060167
NM_024577.3(SH3TC2):c.*5747C>T rs886060166
NM_024577.3(SH3TC2):c.*578C>T rs567100275
NM_024577.3(SH3TC2):c.*5799C>T rs17109208
NM_024577.3(SH3TC2):c.*5933G>A rs886060165
NM_024577.3(SH3TC2):c.*5999G>A rs79866394
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6051G>A rs146293131
NM_024577.3(SH3TC2):c.*6104C>T rs556527140
NM_024577.3(SH3TC2):c.*6162C>T rs17795115
NM_024577.3(SH3TC2):c.*623T>C rs886060190
NM_024577.3(SH3TC2):c.*6242A>G rs142279453
NM_024577.3(SH3TC2):c.*626G>A rs781581124
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6392C>A rs114817736
NM_024577.3(SH3TC2):c.*6436G>T rs11168079
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6510G>A rs116056843
NM_024577.3(SH3TC2):c.*6557T>C rs199797914
NM_024577.3(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.3(SH3TC2):c.*6623G>A rs78100143
NM_024577.3(SH3TC2):c.*6682G>C rs557452648
NM_024577.3(SH3TC2):c.*6692A>G rs11168078
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6836T>C rs757138006
NM_024577.3(SH3TC2):c.*6873_*6875delACA rs567997802
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*7006T>C rs187720692
NM_024577.3(SH3TC2):c.*7021_*7025delATATT rs886060164
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7189C>G rs886060163
NM_024577.3(SH3TC2):c.*7197G>C rs886060162
NM_024577.3(SH3TC2):c.*719G>A rs10050933
NM_024577.3(SH3TC2):c.*7256A>C rs886060161
NM_024577.3(SH3TC2):c.*7269A>G rs763490898
NM_024577.3(SH3TC2):c.*7285G>C rs886060160
NM_024577.3(SH3TC2):c.*7291G>A rs748202204
NM_024577.3(SH3TC2):c.*7292C>T rs1347130
NM_024577.3(SH3TC2):c.*7391A>C rs886060159
NM_024577.3(SH3TC2):c.*7394A>G rs886060158
NM_024577.3(SH3TC2):c.*7452G>A rs761137746
NM_024577.3(SH3TC2):c.*7570G>A rs886060157
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8053G>A rs115027318
NM_024577.3(SH3TC2):c.*8077A>G rs886060156
NM_024577.3(SH3TC2):c.*8111A>C rs17109205
NM_024577.3(SH3TC2):c.*8216T>C rs886060155
NM_024577.3(SH3TC2):c.*8217A>G rs768467653
NM_024577.3(SH3TC2):c.*8248G>C rs56309414
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*8283A>T rs780934660
NM_024577.3(SH3TC2):c.*8313G>A rs770951592
NM_024577.3(SH3TC2):c.*8364C>T rs886060154
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*839del rs886060189
NM_024577.3(SH3TC2):c.*8423T>C rs10036103
NM_024577.3(SH3TC2):c.*8438_*8439delCT rs146811206
NM_024577.3(SH3TC2):c.*8438_*8439dupCT rs146811206
NM_024577.3(SH3TC2):c.*8521C>A rs886060152
NM_024577.3(SH3TC2):c.*8567G>A rs369239776
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.*862del rs886060188
NM_024577.3(SH3TC2):c.*862dup rs886060187
NM_024577.3(SH3TC2):c.*86C>T rs886060194
NM_024577.3(SH3TC2):c.*8748G>A rs190904760
NM_024577.3(SH3TC2):c.*8756G>T rs7733177
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.*8878T>A rs886060151
NM_024577.3(SH3TC2):c.*9073G>C rs886060150
NM_024577.3(SH3TC2):c.*9121del rs886060149
NM_024577.3(SH3TC2):c.*9233T>A rs886060148
NM_024577.3(SH3TC2):c.*929G>C rs1432798
NM_024577.3(SH3TC2):c.*932T>A rs886060186
NM_024577.3(SH3TC2):c.*9340G>C rs886060147
NM_024577.3(SH3TC2):c.*9357T>G rs147996031
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9503C>T rs533786708
NM_024577.3(SH3TC2):c.*9830C>T rs557247993
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.*9969T>C rs761191045
NM_024577.3(SH3TC2):c.*9969_*9972del rs113518050
NM_024577.3(SH3TC2):c.*9972T>C rs778531473
NM_024577.3(SH3TC2):c.*9974_*9977ATCC[14] rs201323132
NM_024577.3(SH3TC2):c.*9980_*9981insTATT rs1554119372
NM_024577.3(SH3TC2):c.*99G>A rs886060193
NM_024577.3(SH3TC2):c.-92C>T rs886060200
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.3(SH3TC2):c.1031A>G (p.Glu344Gly)
NM_024577.3(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.3(SH3TC2):c.106T>C (p.Ser36Pro)
NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719
NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His)
NM_024577.3(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031
NM_024577.3(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe)
NM_024577.3(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met)
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) rs748870159
NM_024577.3(SH3TC2):c.1260C>A (p.Ser420Arg)
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)
NM_024577.3(SH3TC2):c.1319G>A (p.Arg440His) rs755748579
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1326G>A (p.Pro442=) rs138967360
NM_024577.3(SH3TC2):c.1338C>A (p.Asp446Glu)
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791
NM_024577.3(SH3TC2):c.1401C>A (p.Phe467Leu)
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.3(SH3TC2):c.1522G>A (p.Val508Met) rs148155691
NM_024577.3(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.3(SH3TC2):c.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.164C>T (p.Ser55Phe)
NM_024577.3(SH3TC2):c.1654G>A (p.Glu552Lys)
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.3(SH3TC2):c.1747_1748delAG rs80338924
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr)
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1830G>A (p.Lys610=) rs370025626
NM_024577.3(SH3TC2):c.1831C>A (p.His611Asn) rs886060197
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1843G>A (p.Val615Met)
NM_024577.3(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.3(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His)
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser)
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394
NM_024577.3(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604
NM_024577.3(SH3TC2):c.2056C>T (p.Pro686Ser)
NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.3(SH3TC2):c.2094C>T (p.Ile698=) rs886060196
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs) rs80338928
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val)
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.224G>A (p.Arg75Gln)
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2258G>A (p.Arg753Gln)
NM_024577.3(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.3(SH3TC2):c.2288T>C (p.Leu763Pro)
NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys)
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291
NM_024577.3(SH3TC2):c.2407G>A (p.Ala803Thr)
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.3(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601
NM_024577.3(SH3TC2):c.2491_2492delAG rs80338929
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2549G>C (p.Gly850Ala)
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.255C>T (p.Asp85=) rs886060199
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177
NM_024577.3(SH3TC2):c.257A>G (p.Gln86Arg)
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.2582G>C (p.Arg861Pro)
NM_024577.3(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2657G>A (p.Ser886Asn) rs780085307
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.279+4A>G
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.3(SH3TC2):c.289G>A (p.Ala97Thr)
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.2935G>T (p.Ala979Ser)
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2957A>G (p.His986Arg)
NM_024577.3(SH3TC2):c.2989C>T (p.Arg997Trp)
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3013G>A (p.Glu1005Lys)
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556
NM_024577.3(SH3TC2):c.3039C>A (p.Asn1013Lys) rs753381949
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036
NM_024577.3(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885
NM_024577.3(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.3(SH3TC2):c.3110T>A (p.Leu1037Gln)
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3157C>T (p.Leu1053Phe)
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393
NM_024577.3(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.32G>A (p.Arg11Gln)
NM_024577.3(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val)
NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.3(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.3(SH3TC2):c.3371C>T (p.Thr1124Ile)
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)
NM_024577.3(SH3TC2):c.3600G>A (p.Leu1200=) rs886060195
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696
NM_024577.3(SH3TC2):c.362A>T (p.Lys121Met)
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.3835C>T (p.Arg1279Trp)
NM_024577.3(SH3TC2):c.3836G>A (p.Arg1279Gln)
NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.385+3A>G
NM_024577.3(SH3TC2):c.3852_3854delTGG rs1554120043
NM_024577.3(SH3TC2):c.390C>T (p.Tyr130=) rs776623792
NM_024577.3(SH3TC2):c.425A>G (p.His142Arg)
NM_024577.3(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.529+7G>A rs747615694
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.539_541delTCT rs763476083
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met)
NM_024577.3(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.3(SH3TC2):c.574G>A (p.Glu192Lys)
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_024577.3(SH3TC2):c.629T>C (p.Met210Thr)
NM_024577.3(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro)
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.713T>G (p.Leu238Arg)
NM_024577.3(SH3TC2):c.732-6T>C rs1554122676
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr)
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_024577.3(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024577.3(SH3TC2):c.826T>A (p.Leu276Met)
NM_024577.3(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.3(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.3(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403
NM_024577.3(SH3TC2):c.8G>A (p.Gly3Asp)
NM_024577.3(SH3TC2):c.908C>A (p.Pro303His) rs778572329
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.3(SH3TC2):c.929G>A (p.Gly310Glu)
NM_024577.3(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_030962.3(SBF2):c.*112G>A rs144513995
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1255G>A rs886048774
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1439C>A rs531522907
NM_030962.3(SBF2):c.*1441C>T rs562275980
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*1686G>A rs376521838
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*19G>A rs770446132
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*375G>A rs533676532
NM_030962.3(SBF2):c.*375G>C rs533676532
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*480G>A rs148002177
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.*631T>C rs573284772
NM_030962.3(SBF2):c.*730G>A rs886048777
NM_030962.3(SBF2):c.*875G>A rs886048776
NM_030962.3(SBF2):c.*882T>C rs886048775
NM_030962.3(SBF2):c.-101A>C rs886047577
NM_030962.3(SBF2):c.-106C>T rs886047578
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.-128C>T rs886047579
NM_030962.3(SBF2):c.-37G>T rs756232914
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1061A>C (p.Glu354Ala) rs761829741
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1130T>C (p.Ile377Thr)
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1183C>A (p.Gln395Lys)
NM_030962.3(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.3(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.3(SBF2):c.1337A>G (p.Asn446Ser)
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1414A>G (p.Met472Val)
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1499G>A (p.Arg500Gln)
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln)
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508
NM_030962.3(SBF2):c.1600G>C (p.Val534Leu)
NM_030962.3(SBF2):c.1601-4C>G rs886048784
NM_030962.3(SBF2):c.1610T>C (p.Met537Thr) rs1278738726
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln) rs185968327
NM_030962.3(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala)
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2014A>G (p.Thr672Ala)
NM_030962.3(SBF2):c.2024A>G (p.Asn675Ser)
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2050C>G (p.Leu684Val) rs146987383
NM_030962.3(SBF2):c.2081C>T (p.Ala694Val)
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.2100+7G>A rs370918433
NM_030962.3(SBF2):c.2102A>G (p.Asp701Gly)
NM_030962.3(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2254A>G (p.Asn752Asp) rs775455068
NM_030962.3(SBF2):c.2260A>T (p.Met754Leu)
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2329T>G (p.Trp777Gly) rs1321841784
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2338G>A (p.Gly780Arg) rs775404093
NM_030962.3(SBF2):c.2350A>G (p.Ile784Val) rs758912920
NM_030962.3(SBF2):c.2397A>G (p.Thr799=) rs759550730
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.3(SBF2):c.2424T>A (p.Asn808Lys)
NM_030962.3(SBF2):c.2431A>G (p.Ile811Val) rs764765082
NM_030962.3(SBF2):c.2450G>A (p.Arg817Gln) rs369653070
NM_030962.3(SBF2):c.2457T>G (p.Ile819Met)
NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg) rs753921188
NM_030962.3(SBF2):c.2516G>C (p.Ser839Thr) rs1060500002
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.2537-5C>T rs886048783
NM_030962.3(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.3(SBF2):c.2597C>T (p.Pro866Leu) rs143887793
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2600C>T (p.Pro867Leu) rs370198639
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2669G>A (p.Arg890Gln) rs755699993
NM_030962.3(SBF2):c.2689G>A (p.Gly897Arg) rs1554924568
NM_030962.3(SBF2):c.2789C>T (p.Thr930Ile)
NM_030962.3(SBF2):c.279+4C>A
NM_030962.3(SBF2):c.2795A>G (p.His932Arg) rs1554924467
NM_030962.3(SBF2):c.2819C>T (p.Thr940Ile) rs756720332
NM_030962.3(SBF2):c.2828G>A (p.Arg943Gln) rs753298285
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.2870C>A (p.Thr957Lys) rs886048782
NM_030962.3(SBF2):c.2872A>G (p.Met958Val) rs901770002
NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.3(SBF2):c.2883G>C (p.Gln961His) rs768147206
NM_030962.3(SBF2):c.2938A>G (p.Ile980Val)
NM_030962.3(SBF2):c.2963T>G (p.Val988Gly) rs778766567
NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226
NM_030962.3(SBF2):c.3011G>A (p.Arg1004His)
NM_030962.3(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.3(SBF2):c.3040G>A (p.Ala1014Thr) rs1404127728
NM_030962.3(SBF2):c.3086A>G (p.Gln1029Arg) rs1297679145
NM_030962.3(SBF2):c.3110G>C (p.Arg1037Pro) rs748477865
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) rs147438385
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.313A>G (p.Lys105Glu)
NM_030962.3(SBF2):c.3163A>G (p.Ile1055Val) rs142891020
NM_030962.3(SBF2):c.3169C>T (p.Arg1057Trp) rs536949808
NM_030962.3(SBF2):c.3170G>A (p.Arg1057Gln) rs138612196
NM_030962.3(SBF2):c.3203T>G (p.Ile1068Ser)
NM_030962.3(SBF2):c.3229G>A (p.Gly1077Arg)
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3257-5C>G rs886048780
NM_030962.3(SBF2):c.3283A>G (p.Ser1095Gly) rs2942402
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3304G>A (p.Glu1102Lys) rs778262784
NM_030962.3(SBF2):c.3353A>T (p.Tyr1118Phe)
NM_030962.3(SBF2):c.3376A>T (p.Ile1126Leu) rs747669195
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154
NM_030962.3(SBF2):c.3436A>T (p.Met1146Leu) rs377277274
NM_030962.3(SBF2):c.3451C>T (p.Arg1151Trp) rs140550985
NM_030962.3(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.3(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523
NM_030962.3(SBF2):c.3479C>T (p.Pro1160Leu)
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln)
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.3(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3812G>A (p.Arg1271His)
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3823C>G (p.Arg1275Gly)
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3871G>C (p.Ala1291Pro)
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu)
NM_030962.3(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.3(SBF2):c.38A>C (p.Tyr13Ser)
NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu)
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
NM_030962.3(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.3(SBF2):c.3989T>C (p.Val1330Ala) rs147350002
NM_030962.3(SBF2):c.4038C>G (p.Ile1346Met)
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn)
NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) rs746286799
NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) rs771436343
NM_030962.3(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.3(SBF2):c.4204A>C (p.Asn1402His)
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.427G>A (p.Val143Met) rs142469360
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359
NM_030962.3(SBF2):c.4420C>G (p.Gln1474Glu)
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.4443+1G>C
NM_030962.3(SBF2):c.4443+6T>C
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser)
NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.3(SBF2):c.446A>G (p.Asn149Ser)
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4523G>A (p.Arg1508His) rs770619905
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg)
NM_030962.3(SBF2):c.4853G>A (p.Arg1618Gln)
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=)
NM_030962.3(SBF2):c.4933-13_4933-9del rs767990042
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His)
NM_030962.3(SBF2):c.4970C>T (p.Pro1657Leu)
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5016A>G (p.Lys1672=) rs1564852595
NM_030962.3(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5036G>A (p.Arg1679His)
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5102G>A (p.Arg1701Lys)
NM_030962.3(SBF2):c.513+4A>G rs1554990552
NM_030962.3(SBF2):c.5135G>T (p.Gly1712Val)
NM_030962.3(SBF2):c.514-12C>T rs770141264
NM_030962.3(SBF2):c.5200A>C (p.Ser1734Arg)
NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.3(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5232-7C>A rs752774091
NM_030962.3(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315
NM_030962.3(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.3(SBF2):c.5324G>A (p.Arg1775His)
NM_030962.3(SBF2):c.5365A>G (p.Ile1789Val)
NM_030962.3(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.3(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5437A>G (p.Lys1813Glu)
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr)
NM_030962.3(SBF2):c.5498A>G (p.Gln1833Arg)
NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser)
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.3(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.3(SBF2):c.763A>G (p.Ile255Val)
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.783G>T (p.Gln261His)
NM_030962.3(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.3(SBF2):c.832T>A (p.Ser278Thr) rs746749228
NM_030962.3(SBF2):c.869T>G (p.Val290Gly)
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.898A>G (p.Ile300Val) rs141669540
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.925T>G (p.Ser309Ala) rs1300253311
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.942A>G (p.Pro314=) rs753903194
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.975+8A>G
NM_033500.2(HK1):c.-138G>A
NM_033500.2(HK1):c.-390-3818G>C rs397514654
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_138361.5(LRSAM1):c.2047-3C>T
NM_139241.3(FGD4):c.*1006C>T rs886049260
NM_139241.3(FGD4):c.*1007G>A rs114843464
NM_139241.3(FGD4):c.*1068A>G rs537833755
NM_139241.3(FGD4):c.*1133A>C rs10844268
NM_139241.3(FGD4):c.*1148C>T rs56110646
NM_139241.3(FGD4):c.*1160G>A rs540745195
NM_139241.3(FGD4):c.*1274G>A rs570269532
NM_139241.3(FGD4):c.*1354A>G rs886049261
NM_139241.3(FGD4):c.*1356T>G rs886049262
NM_139241.3(FGD4):c.*1454A>G rs7964947
NM_139241.3(FGD4):c.*1485T>C rs55970127
NM_139241.3(FGD4):c.*1492T>G rs7980205
NM_139241.3(FGD4):c.*1704C>G rs886049263
NM_139241.3(FGD4):c.*1723C>T rs4931030
NM_139241.3(FGD4):c.*1781G>A rs886049264
NM_139241.3(FGD4):c.*1828A>T rs4931031
NM_139241.3(FGD4):c.*1866T>G rs886049265
NM_139241.3(FGD4):c.*1908G>C rs886049266
NM_139241.3(FGD4):c.*1954A>G rs1239829
NM_139241.3(FGD4):c.*2026A>G rs765502938
NM_139241.3(FGD4):c.*2103A>G rs55963204
NM_139241.3(FGD4):c.*2203T>C rs41276678
NM_139241.3(FGD4):c.*22G>A rs114284024
NM_139241.3(FGD4):c.*2374G>T rs753715337
NM_139241.3(FGD4):c.*2462C>A rs575272682
NM_139241.3(FGD4):c.*2537C>A rs115173894
NM_139241.3(FGD4):c.*2638A>G rs193167910
NM_139241.3(FGD4):c.*2813C>T rs148195158
NM_139241.3(FGD4):c.*290G>A rs79732949
NM_139241.3(FGD4):c.*2928_*2931del rs549931906
NM_139241.3(FGD4):c.*3037C>A rs886049267
NM_139241.3(FGD4):c.*3044T>C rs747748956
NM_139241.3(FGD4):c.*3113_*3114TA[4] rs57627640
NM_139241.3(FGD4):c.*3113_*3114TA[6] rs57627640
NM_139241.3(FGD4):c.*3130G>A rs73087441
NM_139241.3(FGD4):c.*3130G>T rs73087441
NM_139241.3(FGD4):c.*3148del rs797002948
NM_139241.3(FGD4):c.*3150A>G rs542871416
NM_139241.3(FGD4):c.*3340A>C rs75320947
NM_139241.3(FGD4):c.*3367G>T rs188648275
NM_139241.3(FGD4):c.*3438C>T rs886049269
NM_139241.3(FGD4):c.*3482G>T rs886049270
NM_139241.3(FGD4):c.*3630T>C rs73313005
NM_139241.3(FGD4):c.*3676A>G rs189489067
NM_139241.3(FGD4):c.*3770G>T rs11052123
NM_139241.3(FGD4):c.*3814A>G rs886049271
NM_139241.3(FGD4):c.*3894_*3895del rs780175220
NM_139241.3(FGD4):c.*3905A>G rs886049273
NM_139241.3(FGD4):c.*3920del rs144034303
NM_139241.3(FGD4):c.*4063A>G rs62642552
NM_139241.3(FGD4):c.*411A>G rs886049256
NM_139241.3(FGD4):c.*4128C>T rs12312970
NM_139241.3(FGD4):c.*4211T>C rs75583772
NM_139241.3(FGD4):c.*4268A>G rs542163387
NM_139241.3(FGD4):c.*4369dup rs35874340
NM_139241.3(FGD4):c.*4438A>G rs11052124
NM_139241.3(FGD4):c.*4454G>A rs147515673
NM_139241.3(FGD4):c.*4497G>A rs367545740
NM_139241.3(FGD4):c.*4652T>C rs16920125
NM_139241.3(FGD4):c.*4756A>G rs763037960
NM_139241.3(FGD4):c.*4772dup rs567814235
NM_139241.3(FGD4):c.*4831C>T rs145433607
NM_139241.3(FGD4):c.*4862C>A rs886049275
NM_139241.3(FGD4):c.*4925A>T rs886049276
NM_139241.3(FGD4):c.*4956T>A rs149215917
NM_139241.3(FGD4):c.*4977G>C rs575914495
NM_139241.3(FGD4):c.*497T>C rs886049257
NM_139241.3(FGD4):c.*4991A>G rs1239830
NM_139241.3(FGD4):c.*5020G>C rs886049277
NM_139241.3(FGD4):c.*5072A>G rs886049278
NM_139241.3(FGD4):c.*5152C>T rs886049279
NM_139241.3(FGD4):c.*5177G>A rs777896036
NM_139241.3(FGD4):c.*5198G>A rs1133509
NM_139241.3(FGD4):c.*5223G>A rs886049280
NM_139241.3(FGD4):c.*5244G>A rs186014657
NM_139241.3(FGD4):c.*5309C>T rs556209722
NM_139241.3(FGD4):c.*5329G>C rs886049281
NM_139241.3(FGD4):c.*5484T>C rs577630567
NM_139241.3(FGD4):c.*734G>A rs886049258
NM_139241.3(FGD4):c.*762G>T rs886049259
NM_139241.3(FGD4):c.*792A>T rs140601094
NM_139241.3(FGD4):c.*795G>A rs112398567
NM_139241.3(FGD4):c.-246+9C>T rs531501340
NM_139241.3(FGD4):c.-246G>C rs77113168
NM_139241.3(FGD4):c.-289A>G rs56168193
NM_139241.3(FGD4):c.-370G>A rs184708096
NM_139241.3(FGD4):c.-421A>C rs192626243
NM_139241.3(FGD4):c.-433C>T rs11052033
NM_139241.3(FGD4):c.-447T>C rs886049252
NM_139241.3(FGD4):c.-484C>A rs79370524
NM_139241.3(FGD4):c.1033A>G (p.Met345Val) rs1404084092
NM_139241.3(FGD4):c.1043del (p.Pro348fs)
NM_139241.3(FGD4):c.1059C>T (p.Pro353=) rs16920084
NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln) rs1415031307
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr)
NM_139241.3(FGD4):c.1132+13T>C rs762177862
NM_139241.3(FGD4):c.1135T>G (p.Ser379Ala) rs1396328756
NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn) rs781528826
NM_139241.3(FGD4):c.1192-9A>G rs1555217855
NM_139241.3(FGD4):c.1192G>A (p.Glu398Lys)
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) rs750265200
NM_139241.3(FGD4):c.1246A>G (p.Ile416Val) rs1060501903
NM_139241.3(FGD4):c.1258T>A (p.Ser420Thr) rs759385629
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1327T>C (p.Tyr443His) rs1555217941
NM_139241.3(FGD4):c.1338+3G>A
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1348A>G (p.Met450Val) rs201186597
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1511+4A>G rs760192025
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) rs141237776
NM_139241.3(FGD4):c.1624T>A (p.Ser542Thr)
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1692G>A (p.Met564Ile)
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala) rs144693221
NM_139241.3(FGD4):c.1711C>T (p.Pro571Ser)
NM_139241.3(FGD4):c.1712C>A (p.Pro571His) rs145071617
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) rs118203973
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp) rs886049255
NM_139241.3(FGD4):c.184C>T (p.Pro62Ser) rs1555209302
NM_139241.3(FGD4):c.1877A>T (p.Glu626Val) rs1484964809
NM_139241.3(FGD4):c.1929C>A (p.Asn643Lys) rs1555224749
NM_139241.3(FGD4):c.192A>G (p.Gln64=) rs771558628
NM_139241.3(FGD4):c.1934T>C (p.Val645Ala)
NM_139241.3(FGD4):c.1950T>G (p.Leu650=) rs1358873743
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.1991G>C (p.Cys664Ser)
NM_139241.3(FGD4):c.2041del (p.Gln681fs) rs1060501904
NM_139241.3(FGD4):c.2095A>G (p.Met699Val)
NM_139241.3(FGD4):c.2101A>G (p.Arg701Gly)
NM_139241.3(FGD4):c.2106C>T (p.Ser702=) rs777555137
NM_139241.3(FGD4):c.2179C>G (p.Leu727Val)
NM_139241.3(FGD4):c.2180T>A (p.Leu727Gln)
NM_139241.3(FGD4):c.2186A>G (p.Gln729Arg)
NM_139241.3(FGD4):c.2197A>G (p.Lys733Glu)
NM_139241.3(FGD4):c.2199A>C (p.Lys733Asn) rs770729087
NM_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.308_322del (p.Glu103_Ala107del)
NM_139241.3(FGD4):c.310G>A (p.Glu104Lys) rs752621629
NM_139241.3(FGD4):c.329T>C (p.Leu110Pro) rs142609007
NM_139241.3(FGD4):c.374C>G (p.Thr125Arg)
NM_139241.3(FGD4):c.381A>G (p.Ile127Met) rs774466701
NM_139241.3(FGD4):c.398A>G (p.Asp133Gly) rs759415605
NM_139241.3(FGD4):c.417T>A (p.Pro139=) rs1295234161
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.437G>T (p.Ser146Ile) rs1208033042
NM_139241.3(FGD4):c.443A>T (p.Asp148Val) rs1565869688
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg) rs371407163
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.539A>G (p.Glu180Gly) rs1452437045
NM_139241.3(FGD4):c.542G>A (p.Arg181Lys)
NM_139241.3(FGD4):c.544G>A (p.Glu182Lys)
NM_139241.3(FGD4):c.569T>A (p.Leu190Gln) rs144980336
NM_139241.3(FGD4):c.569T>C (p.Leu190Pro) rs144980336
NM_139241.3(FGD4):c.58G>A (p.Val20Ile) rs755068251
NM_139241.3(FGD4):c.593A>G (p.Glu198Gly) rs1304257221
NM_139241.3(FGD4):c.597G>C (p.Met199Ile)
NM_139241.3(FGD4):c.667A>C (p.Asn223His) rs761788290
NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) rs118203972
NM_139241.3(FGD4):c.671G>A (p.Arg224Gln)
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.740C>T (p.Ala247Val) rs1295394925
NM_139241.3(FGD4):c.76C>T (p.Arg26Cys)
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.955C>T (p.Arg319Cys) rs1131691854
NM_139241.3(FGD4):c.956G>A (p.Arg319His)
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_139241.3(FGD4):c.993+4A>T rs767855809
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_139241.3(FGD4):c.994-4A>G rs886049254
NM_153321.3(PMP22):c.433dup (p.Leu145fs)
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.627del (p.Ala210fs)
NM_201278.3(MTMR2):c.*345_*346CT[1] rs762396029
NM_201278.3(MTMR2):c.-156_-154AGG[1] rs141498429
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) rs1555057316
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) rs1358449243
NM_201278.3(MTMR2):c.537_539TGA[1] (p.Asp180del) rs878855016
NP_000521.1(MPZ):p.Asn116Ser
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
PMP22, 1.1- to 1.5-MB DEL
PMP22, 1.4-MB DUP
PMP22, 1.4-MB TRIPLICATION
SBF2, EX11-12DEL
Single allele

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