ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5942
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HGVS dbSNP
DNM2, 9-BP DEL, NT1652
FGD4, 893T-G
GDAP1, IVS4DS, G-A, +1
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
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)
INF2, 9-BP DEL, NT490
MFN2, EX7-8DEL
MPZ, ASP195TYR
MPZ, THR216GLU-ARG
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.10:g.(?_33276192)_(33276658_?)del
NC_000001.9:g.157610062_160185096del2575035
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000004.11:g.(?_154125663)_(154197302_?)del
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000005.9:g.(?_110079421)_(110079498_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000005.9:g.(?_130495120)_(130500918_?)del
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_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.13:g.(?_75933099)_(75933510_?)del
NC_000007.13:g.(?_75933119)_(75933490_?)del
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.11:g.(?_130263279)_(130263432_?)del
NC_000009.11:g.(?_130265053)_(130265780_?)del
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NC_000011.9:g.(?_68675593)_(68676119_?)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_000014.8:g.(?_102391478)_(102431284_?)del
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105167693)_(105170300_?)del
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.101979787T>G
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NC_000023.10:g.(?_24483553)_(24483698_?)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_24512839)_(24557301_?)del
NC_012920.1:m.9185T>C rs199476138
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.-16-3C>G
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110del (p.Val37fs)
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
NM_000166.6(GJB1):c.115del (p.Ala39fs)
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.116del (p.Ala39fs)
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.155del (p.Ile52fs)
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
NM_000166.6(GJB1):c.217del (p.His73fs)
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.308dup (p.Lys104fs)
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
NM_000166.6(GJB1):c.313del (p.Met105fs)
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.332_349del (p.His111_His116del)
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
NM_000166.6(GJB1):c.358_360del (p.Val120del)
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
NM_000166.6(GJB1):c.371del (p.Lys124fs)
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.397del (p.Trp133fs)
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.410del (p.Ile137fs)
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.6(GJB1):c.424del (p.Arg142fs)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
NM_000166.6(GJB1):c.439del (p.Ala147fs)
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.43del (p.Arg15fs)
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
NM_000166.6(GJB1):c.454del (p.Val152fs)
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
NM_000166.6(GJB1):c.474del (p.Gly159fs)
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
NM_000166.6(GJB1):c.484dup (p.Met162fs)
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.530T>A (p.Val177Glu)
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs)
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.576del (p.Phe193fs)
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
NM_000166.6(GJB1):c.606del (p.Ile203fs)
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
NM_000166.6(GJB1):c.62del (p.Gly21fs)
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
NM_000166.6(GJB1):c.634del (p.Leu212fs)
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
NM_000166.6(GJB1):c.772del (p.Ser258fs)
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs)
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
NM_000166.6(GJB1):c.800del (p.Pro267fs)
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
NM_000166.6(GJB1):c.822del (p.Glu275fs)
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
NM_000166.6(GJB1):c.84del (p.Phe29fs)
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
NM_000183.3(HADHB):c.210-1G>C rs200777054
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
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.116G>A (p.Trp39Ter)
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs)
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.174_178+7del
NM_000304.4(PMP22):c.178+1G>C
NM_000304.4(PMP22):c.179-1G>C
NM_000304.4(PMP22):c.179-2A>G
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
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.206T>G (p.Met69Arg)
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.227del (p.Ser76fs)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
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.256C>T (p.Gln86Ter)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
NM_000304.4(PMP22):c.297del (p.Gly100fs)
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs)
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
NM_000304.4(PMP22):c.318del (p.Gly107fs)
NM_000304.4(PMP22):c.319+1G>A
NM_000304.4(PMP22):c.320-1G>C
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
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.364_365del (p.Pro122fs)
NM_000304.4(PMP22):c.367del (p.Glu123fs)
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.392C>G (p.Ser131Cys)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
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>G (p.Arg157Gly)
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
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.53T>G (p.Leu18Arg)
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del
NM_000304.4(PMP22):c.76del (p.Ser26fs)
NM_000304.4(PMP22):c.78+1G>T
NM_000304.4(PMP22):c.78+5G>A
NM_000304.4(PMP22):c.79-2A>G
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)
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.1141C>T (p.Arg381Cys)
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>C (p.Asp383His)
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.1235A>G (p.Glu412Gly) rs749558026
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
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_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
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.-10_-6dup
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.123_125del (p.Val42del)
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
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.136G>A (p.Val46Met)
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
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.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
NM_000530.8(MPZ):c.223del (p.Asp75fs)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.235-1G>C
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.242A>T (p.His81Leu)
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
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.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
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.296T>C (p.Ile99Thr)
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
NM_000530.8(MPZ):c.346A>C (p.Asn116His) rs267607242
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
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.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
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.405A>G (p.Ile135Met)
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.410G>C (p.Gly137Ala)
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
NM_000530.8(MPZ):c.449-1G>A
NM_000530.8(MPZ):c.449-1G>C
NM_000530.8(MPZ):c.449-1G>T
NM_000530.8(MPZ):c.449-9C>T
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
NM_000530.8(MPZ):c.486del (p.Ile162fs)
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.543C>G (p.Tyr181Ter)
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
NM_000530.8(MPZ):c.553del (p.Arg185fs)
NM_000530.8(MPZ):c.554del (p.Arg185fs)
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
NM_000530.8(MPZ):c.560del (p.Gln187fs)
NM_000530.8(MPZ):c.570del (p.Gln191fs)
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup
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.679A>G (p.Arg227Gly)
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
NM_000530.8(MPZ):c.68-5_71del
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
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.706A>G (p.Lys236Glu)
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
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.89T>G (p.Ile30Ser)
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_000902.4(MME):c.1265C>A (p.Ala422Asp) rs777476150
NM_000902.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_000902.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.1904G>A (p.Gly635Asp) rs151302020
NM_000902.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_000902.4(MME):c.439+2T>A rs1057519024
NM_000902.4(MME):c.467del (p.Pro156fs) rs749320057
NM_000902.4(MME):c.654+1G>A rs1057519023
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_000902.4(MME):c.71G>A (p.Trp24Ter) rs886039755
NM_000902.4(MME):c.769C>A (p.Arg257Ser) rs145687755
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)
NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=) rs746959606
NM_001005360.2(DNM2):c.1101C>T (p.His367=) rs768651920
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val) rs186762327
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
NM_001005360.2(DNM2):c.1335+1G>A
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.162-6del rs766449694
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1664_1671+1del rs1568314339
NM_001005360.2(DNM2):c.1671+3G>C
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
NM_001005360.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1716C>A (p.Ile572=) rs776999450
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-4G>A rs767424969
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2059-5C>T rs377150057
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
NM_001005360.2(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.216G>A (p.Gln72=) rs368075301
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) rs114682382
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) rs200100669
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2544_2546delCAG rs1568325729
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=) rs761141093
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) rs149825590
NM_001005360.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
NM_001005360.2(DNM2):c.384C>T (p.His128=)
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
NM_001005360.2(DNM2):c.480C>T (p.Ile160=) rs140036663
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
NM_001005360.2(DNM2):c.648C>T (p.Ala216=) rs1060504950
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.81C>T (p.Cys27=) rs534605878
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys) rs760254039
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.90C>T (p.Asp30=) rs759919549
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val)
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.2(RETREG1):c.826del (p.Ser276fs) rs886037748
NM_001034850.2(RETREG1):c.873+2T>C rs137852738
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_001039550.2(DNAJB2):c.229+1G>A rs730882139
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_001039550.2(DNAJB2):c.352+1G>A rs756614404
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln) rs149772470
NM_001130089.1(KARS1):c.307-6del rs370077957
NM_001130089.1(KARS1):c.307-7_307-6del rs370077957
NM_001130089.1(KARS1):c.398T>A (p.Leu133His) rs267607194
NM_001130089.1(KARS1):c.514_515dup (p.Tyr173fs) rs587776688
NM_001130089.1(KARS1):c.524_525dup (p.Arg176fs)
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
NM_001135242.2(NDRG1):c.64-20dup rs756038946
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*118G>A rs864622744
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.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.17-3C>T
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
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.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
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.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
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.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
NM_001164731.2(REEP1):c.223-2A>G rs387907242
NM_001164731.2(REEP1):c.25-18131T>A
NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp) rs587781248
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=) rs754338828
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=) rs768240412
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
NM_001303256.3(MORC2):c.1370-3C>T
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667
NM_001303256.3(MORC2):c.1499-9T>C rs201213165
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
NM_001303256.3(MORC2):c.1605-3C>T
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
NM_001303256.3(MORC2):c.1737+4C>T rs5997814
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=) rs1555937681
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=) rs140142437
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
NM_001303256.3(MORC2):c.2649C>T (p.Val883=) rs189421529
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=) rs147997704
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185
NM_001303256.3(MORC2):c.2747+6T>C
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=) rs767914603
NM_001303256.3(MORC2):c.276T>C (p.Pro92=) rs142640132
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=) rs372404658
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=) rs777775099
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=) rs765411579
NM_001303256.3(MORC2):c.3030+6C>G
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=) rs138812699
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.427-4A>G rs749183153
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) rs186458188
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.732C>T (p.Ala244=) rs371351399
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.774T>C (p.His258=) rs747931761
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.870G>A (p.Gln290=) rs766060409
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.927A>G (p.Ala309=) rs1291021388
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177
NM_001304480.1(FGD4):c.193A>T (p.Ile65Leu) rs886049253
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_001316772.1(GARS1):c.-207C>G rs903029869
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
NM_001349253.2(SCN11A):c.4057-1G>A
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889
NM_001362931.2(GDAP1):c.694+932_694+1314del rs1554548327
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=) rs1555411373
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.10198-4C>A rs1555411389
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=) rs371853975
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp) rs1315999225
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=) rs758827732
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=) rs201109134
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=) rs1060504512
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
NM_001376.5(DYNC1H1):c.11055+6G>A
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=) rs149806996
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=) rs1555411851
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11691-10C>T rs771362494
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=) rs780971776
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=) rs1446298826
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=) rs1060504511
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=) rs1041126638
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=) rs549895432
NM_001376.5(DYNC1H1):c.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg) rs1060499574
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=) rs774128776
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=) rs146075696
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12514-3C>T rs761866611
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=) rs1489755183
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=) rs753248251
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=) rs1288014241
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=) rs780271275
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=) rs751398567
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.13006+4G>A
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) rs773232010
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=) rs369577172
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=) rs766805479
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe) rs144570049
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr) rs1567026040
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=) rs1555412704
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13516-10C>A
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=) rs765791872
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=) rs761306770
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) rs1057522046
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=) rs376398498
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=) rs1555408339
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=) rs763561186
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=) rs763236829
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=) rs757752556
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2539-9T>C rs750362256
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=) rs762508534
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=) rs1060504507
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=) rs767157510
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr) rs1567006359
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416
NM_001376.5(DYNC1H1):c.4543-7C>T rs1555409395
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val) rs140905741
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=) rs143297786
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=) rs374033335
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5050-3C>T
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5238+7T>C rs746205822
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=) rs761933814
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
NM_001376.5(DYNC1H1):c.5433_5433+27dup
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=) rs552313071
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=) rs1555409674
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=) rs758999145
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) rs374440380
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.6857+10_6857+12del rs773209855
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=) rs768991876
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=) rs1555410008
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7242+5G>A
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=) rs141665695
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=) rs762065704
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=) rs200413541
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+5G>A
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=) rs149526821
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
NM_001376.5(DYNC1H1):c.8772-7G>A rs758936427
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=) rs755723273
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=) rs1060504513
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=) rs202053613
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=) rs1555411131
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>A
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
NM_001540.5(HSPB1):c.365-13C>T
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
NM_001540.5(HSPB1):c.505del (p.Met169fs)
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) rs199997425
NM_001605.2(AARS1):c.618G>T (p.Gln206His)
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1031+1G>A
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1809+1G>A
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr) rs863225124
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) rs143473232
NM_002109.6(HARS1):c.397G>T (p.Val133Phe) rs1554107200
NM_002109.6(HARS1):c.401C>A (p.Pro134His) rs863225122
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002109.6(HARS1):c.525T>G (p.Asp175Glu) rs863225123
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys) rs1554106881
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+10C>T rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.133del (p.Val45fs)
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
NM_002180.2(IGHMBP2):c.1463del (p.Leu488fs)
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1538-8C>G rs115320302
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
NM_002180.2(IGHMBP2):c.2356del (p.Ala786fs)
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu)
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
NM_002180.2(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.639T>C (p.His213=) rs764495455
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)
NM_002506.2(NGF):c.560G>A (p.Ser187Asn)
NM_002506.2(NGF):c.680C>A (p.Thr227Lys)
NM_002506.2(NGF):c.681_682del (p.Ala228fs)
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys)
NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788
NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs)
NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg)
NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg)
NM_002529.3(NTRK1):c.1633-1G>T
NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe)
NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly)
NM_002529.3(NTRK1):c.1754del (p.Leu585fs)
NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904
NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys)
NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs)
NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu)
NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys)
NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp)
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter)
NM_002529.3(NTRK1):c.2328dup (p.Val777fs)
NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter)
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser)
NM_002529.3(NTRK1):c.354_359+3del
NM_002529.3(NTRK1):c.359+5G>T
NM_002529.3(NTRK1):c.429-1G>C
NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter)
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
NM_002529.3(NTRK1):c.574+1G>A
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) rs747711259
NM_002529.3(NTRK1):c.722dup (p.Gly242fs)
NM_002529.3(NTRK1):c.924_930del (p.Gln308fs)
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
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_002977.3(SCN9A):c.3993delinsTT (p.Leu1331fs) rs606231279
NM_002977.3(SCN9A):c.4596G>A (p.Met1532Ile)
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_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly)
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1042+3A>C rs772446297
NM_003680.3(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr) rs1490757097
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln)
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp)
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu)
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro)
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1531A>G (p.Met511Val)
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
NM_003680.3(YARS1):c.205-2A>G rs538137948
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg)
NM_003680.3(YARS1):c.211A>G (p.Ile71Val) rs145768628
NM_003680.3(YARS1):c.221C>T (p.Ala74Val) rs1429267110
NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile) rs786204003
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del) rs786200893
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_003680.3(YARS1):c.63T>C (p.Val21=) rs138749370
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.821-3T>C
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn)
NM_003912.1:c.1480_1593del
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His)
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe)
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.213G>A (p.Gln71=) rs140299645
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile)
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser) rs752824265
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
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_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.144C>A (p.Val48=) rs1018358556
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1754-1G>C
NM_004990.4(MARS1):c.1754-4C>A rs377361080
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2209C>A (p.Arg737=) rs139536122
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.2610T>C (p.Ala870=) rs769627922
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.414+9G>C rs375026310
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.663+8A>C rs199843552
NM_004990.4(MARS1):c.66C>T (p.Ala22=) rs200471304
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.801C>T (p.Leu267=) rs151260441
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) rs762701283
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.217-3C>T
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493
NM_005340.7(HINT1):c.289G>A (p.Val97Met) rs1554088064
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005391.4(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.1126G>A (p.Ala376Thr)
NM_005391.4(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_005391.4(PDK3):c.249-8C>T rs1231289510
NM_005391.4(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_005391.4(PDK3):c.320+6T>C rs748960946
NM_005391.4(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_005391.4(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005391.4(PDK3):c.474C>T (p.Arg158=)
NM_005391.4(PDK3):c.486C>T (p.Arg162=)
NM_005391.4(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_005391.4(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_005391.4(PDK3):c.582G>A (p.Ala194=)
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.4(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_005391.4(PDK3):c.751-10A>G rs372774822
NM_005391.4(PDK3):c.798C>A (p.Gly266=) rs1250656724
NM_005391.4(PDK3):c.811A>G (p.Lys271Glu)
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln)
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-10T>C rs79631225
NM_006070.6(TFG):c.225C>G (p.Ser75=) rs747353898
NM_006070.6(TFG):c.237G>T (p.Gln79His)
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449
NM_006070.6(TFG):c.290T>A (p.Leu97His)
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900
NM_006070.6(TFG):c.310T>C (p.Tyr104His)
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.6(TFG):c.415+7C>G rs149927288
NM_006070.6(TFG):c.416-9T>C rs115896544
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.68G>A (p.Arg23Gln)
NM_006070.6(TFG):c.716T>C (p.Ile239Thr)
NM_006070.6(TFG):c.722-8G>T rs41272979
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
NM_006070.6(TFG):c.754G>A (p.Gly252Ser)
NM_006070.6(TFG):c.792G>T (p.Gln264His)
NM_006070.6(TFG):c.806G>T (p.Gly269Val) rs587777789
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006070.6(TFG):c.882A>C (p.Gln294His)
NM_006070.6(TFG):c.898C>T (p.Pro300Ser)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)
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.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
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.1101C>T (p.Ser367=) rs201959970
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.1152C>T (p.Ser384=) rs863224413
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.303C>T (p.Asp101=) rs765528167
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.31G>A (p.Ala11Thr) rs145871479
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.389+8C>T rs375532877
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=)
NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
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.528C>G (p.Ala176=) rs191237702
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.594+8G>T rs767524421
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.64-6T>C rs2272653
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys)
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
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.69C>A (p.Ile23=) rs369862936
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.755+9C>T rs756756059
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala)
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.855+14_855+15del rs780070007
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
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.973C>T (p.Arg325Trp) rs141078746
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr)
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met)
NM_006158.4(NEFL):c.1044+5G>C
NM_006158.4(NEFL):c.1044G>A (p.Gln348=)
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.4(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln)
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1213G>A (p.Val405Met)
NM_006158.4(NEFL):c.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1275C>T (p.Gly425=) rs114329068
NM_006158.4(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys)
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile)
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) rs1045761358
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys)
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys)
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg)
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
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.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser)
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) rs767370918
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile)
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys)
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) rs876661155
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly)
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn)
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys)
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His)
NM_006158.4(NEFL):c.608C>T (p.Ala203Val)
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
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>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala)
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly)
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) rs1170226456
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu)
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser)
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
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_006400.4(DCTN2):c.337C>T (p.His113Tyr) rs863223327
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg)
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His)
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006640.4(SEPTIN9):c.812G>A (p.Arg271His) rs587781247
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter)
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val)
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser)
NM_014365.2(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys)
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu)
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe)
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr)
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.553G>A (p.Glu185Lys) rs774648716
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_014629.4(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
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.2197C>T (p.His733Tyr) rs147531758
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.604A>C (p.Asn202His)
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.1040-4T>C rs374343214
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.1147_1148delinsT (p.Glu382_Lys383insTer)
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
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.1239_1241inv (p.Tyr413_Ile414delinsTer) rs1554303811
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.1350C>G (p.Arg450=) rs763035100
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.1435-8C>T rs754607430
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1525C>T (p.Leu509=) rs146488614
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.1675A>T (p.Lys559Ter)
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.1755C>T (p.Ala585=) rs377111248
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.1923G>A (p.Lys641=) rs140078026
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.1986dup (p.Lys663fs)
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.2097-10C>G rs142482745
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.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
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.2241G>C (p.Pro747=) rs148589135
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.2299dup (p.Glu767fs)