ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Invitae

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6069
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HGVS dbSNP
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NC_000001.11:g.(?_40089400)_(40097248_?)del
NC_000001.11:g.40074183del
NC_000003.12:g.(?_167684288)_(167825343_?)dup
NC_000003.12:g.(?_167822966)_(167825343_?)del
NC_000004.11:g.(?_128804417)_(129131208_?)dup
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000004.12:g.(?_127920610)_(127957612_?)del
NC_000004.12:g.(?_127920610)_(127965153_?)dup
NC_000004.12:g.(?_127930663)_(127933113_?)del
NC_000004.12:g.(?_127930663)_(127965153_?)del
NC_000004.12:g.(?_127932965)_(127933113_?)del
NC_000004.12:g.(?_127957491)_(127957602_?)dup
NC_000004.12:g.(?_127965052)_(127965153_?)del
NC_000004.12:g.(?_127965062)_(127965143_?)del
NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145625675)_(145735518_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NC_000007.13:g.(?_66094032)_(66105401_?)dup
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NC_000007.13:g.(?_66103220)_(66105401_?)dup
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000008.10:g.(?_1719201)_(1728753_?)dup
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771045)_(1780577_?)del
NC_000008.11:g.(?_27469335)_(27471194_?)del
NC_000008.11:g.(?_67422484)_(67434260_?)dup
NC_000008.11:g.(?_67422484)_(67746149_?)dup
NC_000008.11:g.(?_67483748)_(67484809_?)del
NC_000008.11:g.(?_67624156)_(67624271_?)del
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138594085)_(139440258_?)dup
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.12:g.(?_135769927)_(135792181_?)dup
NC_000009.12:g.(?_135775290)_(135788182_?)del
NC_000009.12:g.(?_135786177)_(135792181_?)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NC_000011.10:g.(?_17735983)_(17781754_?)dup
NC_000011.10:g.(?_68684904)_(68691007_?)dup
NC_000011.9:g.(?_532616)_(2906985_?)dup
NC_000011.9:g.(?_5709028)_(6640651_?)dup
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000013.11:g.(?_76991932)_(77000989_?)del
NC_000013.11:g.(?_76991932)_(77000989_?)dup
NC_000013.11:g.(?_76995053)_(76995238_?)dup
NC_000013.11:g.(?_76995053)_(76996137_?)del
NC_000013.11:g.76992000G>A
NC_000013.11:g.76992001G>A
NC_000013.11:g.76992002G>C rs763032153
NC_000013.11:g.76992002del rs765323914
NC_000013.11:g.76992003C>G
NC_000013.11:g.76992004A>G
NC_000013.11:g.76992005A>T
NC_000013.11:g.76992024C>G
NC_000013.11:g.76992062G>A rs1593906853
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_138130)_(138287_?)del
NC_000016.10:g.(?_28475343)_(28477877_?)dup
NC_000016.10:g.(?_28475343)_(28484138_?)del
NC_000016.10:g.(?_28475343)_(28486650_?)del
NC_000016.10:g.(?_28477496)_(28491779_?)del
NC_000016.10:g.(?_28483996)_(28484128_?)del
NC_000016.10:g.(?_28485965)_(28486930_?)del
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.(?_28487436)_(28491779_?)del
NC_000016.10:g.(?_28487456)_(28595930_?)del
NC_000016.10:g.(?_86685)_(86890_?)del
NC_000016.10:g.(?_86685)_(86890_?)dup
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_9763129)_(10180431_?)dup
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.10:g.(?_9890966)_(9938571_?)dup
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)dup
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(160624_?)dup
NC_000016.9:g.(?_136684)_(162794_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_148123)_(162794_?)dup
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_150350)_(169274_?)dup
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000016.9:g.(?_167280)_(188286_?)dup
NC_000016.9:g.(?_180501)_(188286_?)dup
NC_000016.9:g.(?_188129)_(188286_?)dup
NC_000016.9:g.(?_28486664)_(28489218_?)dup
NC_000016.9:g.(?_28486664)_(28503100_?)dup
NC_000016.9:g.(?_28488817)_(28489218_?)dup
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000019.10:g.(?_2456650)_(2456953_?)dup
NC_000020.10:g.(?_61977556)_(62044954_?)del
NC_000020.10:g.(?_61977556)_(62046499_?)del
NC_000020.10:g.(?_61977556)_(62065276_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)dup
NC_000020.10:g.(?_61977556)_(62562941_?)dup
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.11:g.(?_63346204)_(63361854_?)dup
NC_000020.11:g.(?_63355955)_(63356104_?)del
NC_000020.11:g.(?_63928326)_(63931588_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NC_000021.9:g.(?_43772665)_(43777375_?)dup
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32253411)_(32302503_?)dup
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NC_000022.11:g.(?_31754902)_(31754999_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31754902)_(31906517_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31778079)_(31792837_?)del
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31798562)_(31798676_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.(?_31893562)_(31897673_?)del
NC_000022.11:g.(?_31901722)_(31901822_?)del
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_000086.2(CLN3):c.1012C>T (p.Arg338Cys) rs776725094
NM_000086.2(CLN3):c.1013G>A (p.Arg338His) rs557870972
NM_000086.2(CLN3):c.1022G>A (p.Arg341His) rs201271341
NM_000086.2(CLN3):c.1028G>A (p.Arg343His) rs771305783
NM_000086.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>T (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.1057-9del rs1288269632
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1069G>T (p.Val357Leu) rs1567254103
NM_000086.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_000086.2(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_000086.2(CLN3):c.1120G>A (p.Val374Ile) rs759049027
NM_000086.2(CLN3):c.1121T>C (p.Val374Ala) rs1596619733
NM_000086.2(CLN3):c.1132A>G (p.Ile378Val) rs147658282
NM_000086.2(CLN3):c.1135C>T (p.Leu379=) rs890026046
NM_000086.2(CLN3):c.1158C>T (p.Gly386=) rs145340637
NM_000086.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719
NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847
NM_000086.2(CLN3):c.1186A>G (p.Ile396Val) rs781253826
NM_000086.2(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_000086.2(CLN3):c.1192C>G (p.Leu398Val) rs751114018
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1198-5C>T rs764999720
NM_000086.2(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.1225A>G (p.Met409Val) rs776443981
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.1234A>G (p.Thr412Ala) rs1064795206
NM_000086.2(CLN3):c.1240A>G (p.Ile414Val) rs146124686
NM_000086.2(CLN3):c.1249A>G (p.Thr417Ala) rs570472210
NM_000086.2(CLN3):c.125+3G>A rs775577824
NM_000086.2(CLN3):c.125+5G>A rs386833704
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_000086.2(CLN3):c.126-4C>A rs1555469191
NM_000086.2(CLN3):c.1262C>T (p.Ser421Phe) rs778225078
NM_000086.2(CLN3):c.1276C>G (p.Leu426Val) rs1596619187
NM_000086.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_000086.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_000086.2(CLN3):c.1305C>G (p.Cys435Trp) rs1216521924
NM_000086.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_000086.2(CLN3):c.207G>A (p.Ser69=) rs551476103
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.222T>C (p.His74=) rs201225986
NM_000086.2(CLN3):c.236C>T (p.Pro79Leu) rs1596564333
NM_000086.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_000086.2(CLN3):c.239C>T (p.Thr80Met) rs775999656
NM_000086.2(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_000086.2(CLN3):c.266G>A (p.Arg89Gln) rs766287694
NM_000086.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_000086.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_000086.2(CLN3):c.283G>A (p.Val95Ile) rs763659524
NM_000086.2(CLN3):c.290C>T (p.Thr97Met) rs376421578
NM_000086.2(CLN3):c.291G>A (p.Thr97=) rs367945307
NM_000086.2(CLN3):c.298G>C (p.Val100Leu) rs1478662819
NM_000086.2(CLN3):c.304C>T (p.Leu102=) rs1167562278
NM_000086.2(CLN3):c.308C>T (p.Ala103Val) rs760039703
NM_000086.2(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.319C>T (p.Pro107Ser) rs149095062
NM_000086.2(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_000086.2(CLN3):c.33T>C (p.Phe11=) rs1555469504
NM_000086.2(CLN3):c.361C>G (p.Leu121Val) rs752282954
NM_000086.2(CLN3):c.375-19_375-4dup rs755313503
NM_000086.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_000086.2(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_000086.2(CLN3):c.420C>G (p.Val140=) rs544119921
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_000086.2(CLN3):c.45G>A (p.Glu15=) rs201824641
NM_000086.2(CLN3):c.460+3G>A rs779238243
NM_000086.2(CLN3):c.461-1G>T rs386833722
NM_000086.2(CLN3):c.461-3C>A rs181995380
NM_000086.2(CLN3):c.461-3C>G rs181995380
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.47-3C>T rs377583228
NM_000086.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_000086.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.519T>C (p.Thr173=) rs983162408
NM_000086.2(CLN3):c.565G>A (p.Gly189Arg) rs386833731
NM_000086.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.615C>T (p.Ala205=) rs145631076
NM_000086.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.626C>T (p.Pro209Leu) rs139417824
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534
NM_000086.2(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.67C>T (p.Pro23Ser) rs757558651
NM_000086.2(CLN3):c.688T>A (p.Leu230Met) rs746075287
NM_000086.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_000086.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080
NM_000086.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.769G>A (p.Glu257Lys) rs771303379
NM_000086.2(CLN3):c.771G>A (p.Glu257=) rs73533466
NM_000086.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_000086.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_000086.2(CLN3):c.777G>A (p.Pro259=) rs751443804
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000086.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_000086.2(CLN3):c.837+4C>T rs778372397
NM_000086.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_000086.2(CLN3):c.882C>T (p.Ala294=) rs766972077
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.89A>G (p.His30Arg) rs1399199073
NM_000086.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000
NM_000086.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000086.2(CLN3):c.962+3A>T rs796052336
NM_000086.2(CLN3):c.962+7G>A rs1555468172
NM_000086.2(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_000086.2(CLN3):c.987C>T (p.Gly329=) rs777779035
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.155A>T (p.Asn52Ile) rs541671661
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys) rs762082236
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.167A>G (p.Lys56Arg) rs935774172
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.174C>T (p.His58=) rs763095750
NM_000100.3(CSTB):c.175G>A (p.Val59Ile) rs531685360
NM_000100.3(CSTB):c.183C>T (p.Asp61=) rs772899788
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000100.3(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.214T>C (p.Ser72Pro) rs796052392
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu) rs753004113
NM_000100.3(CSTB):c.268G>A (p.Ala90Thr) rs761504637
NM_000100.3(CSTB):c.274C>T (p.His92Tyr) rs796052393
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu) rs1399970116
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947
NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) rs569851503
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000100.3(CSTB):c.96C>T (p.Asn32=) rs1436155713
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
NM_000100.4(CSTB):c.67-4C>G
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
NM_000310.3(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.3(PPT1):c.124+6T>C rs759641557
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.234+1G>A rs796052923
NM_000310.3(PPT1):c.234+6G>A rs587781122
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.239T>G (p.Val80Gly) rs762619451
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.282A>G (p.Thr94=) rs753828114
NM_000310.3(PPT1):c.283G>A (p.Val95Met) rs932228782
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363-5C>T rs112553480
NM_000310.3(PPT1):c.363G>T (p.Leu121=) rs201820661
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) rs755565099
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.426A>G (p.Gln142=) rs759480265
NM_000310.3(PPT1):c.433+5C>A rs1553167414
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.3(PPT1):c.513G>A (p.Ala171=) rs150924738
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.536+5G>T rs1208757133
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.543G>A (p.Val181=) rs374121503
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His) rs939858453
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg) rs200434104
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) rs746667989
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.762A>C (p.Glu254Asp) rs146002450
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+8G>A rs368106574
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
NM_000310.3(PPT1):c.803G>A (p.Arg268His) rs763536047
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) rs1193191643
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys) rs141405110
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) rs199708990
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.102del (p.Leu35fs)
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.124G>A (p.Gly42Arg)
NM_000310.4(PPT1):c.150C>T (p.Ser50=)
NM_000310.4(PPT1):c.218G>C (p.Gly73Ala)
NM_000310.4(PPT1):c.238G>A (p.Val80Met)
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp)
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000310.4(PPT1):c.40C>G (p.Leu14Val)
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe)
NM_000310.4(PPT1):c.416T>C (p.Val139Ala)
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln)
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly)
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe)
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu)
NM_000310.4(PPT1):c.537-16dup rs760997725
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp)
NM_000310.4(PPT1):c.628-10T>C rs557560550
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr)
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462
NM_000310.4(PPT1):c.727-1G>A
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg)
NM_000310.4(PPT1):c.749G>A (p.Gly250Asp)
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu)
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro)
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)
NM_000310.4(PPT1):c.896C>T (p.Ala299Val)
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) rs984125804
NM_000391.4(TPP1):c.100G>A (p.Gly34Ser)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1020C>G (p.Val340=) rs915667605
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr)
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg)
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) rs199866669
NM_000391.4(TPP1):c.1049G>C (p.Arg350Pro)
NM_000391.4(TPP1):c.1068C>T (p.Phe356=) rs769297657
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)
NM_000391.4(TPP1):c.1075+2T>C
NM_000391.4(TPP1):c.1075+5C>T
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1099T>C (p.Ser367Pro)
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) rs368914445
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1131C>G (p.Thr377=) rs1444283440
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys)
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145+3A>G
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) rs761448855
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1181A>T (p.Gln394Leu)
NM_000391.4(TPP1):c.1186C>G (p.Pro396Ala)
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.4(TPP1):c.119G>A (p.Arg40His) rs549309216
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr) rs1564854446
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)
NM_000391.4(TPP1):c.1228G>A (p.Gly410Ser)
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) rs768795654
NM_000391.4(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.4(TPP1):c.124G>T (p.Asp42Tyr)
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+4C>T
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1266+8T>C rs752269166
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1267-2A>G
NM_000391.4(TPP1):c.1267-9G>C rs1166231114
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala) rs1314595290
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) rs1589947644
NM_000391.4(TPP1):c.135A>G (p.Glu45=) rs746004484
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp)
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
NM_000391.4(TPP1):c.1416C>T (p.Ser472=) rs773086052
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.1426-1G>A
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) rs748533410
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) rs751645191
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018
NM_000391.4(TPP1):c.1551+1G>C rs786204553
NM_000391.4(TPP1):c.1551+8T>C rs757218133
NM_000391.4(TPP1):c.1552-4del rs1589947372
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) rs368697480
NM_000391.4(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)
NM_000391.4(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) rs755878872
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser)
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr)
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.1669C>A (p.Leu557Met)
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser)
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) rs1589949717
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.199G>C (p.Ala67Pro)
NM_000391.4(TPP1):c.202G>A (p.Val68Met) rs776937435
NM_000391.4(TPP1):c.207G>A (p.Ser69=) rs761070664
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) rs775780584
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861
NM_000391.4(TPP1):c.230-8C>A
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp)
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.26G>T (p.Gly9Val)
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.294G>A (p.Thr98=)
NM_000391.4(TPP1):c.295G>C (p.Val99Leu) rs756622036
NM_000391.4(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser)
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) rs1589948943
NM_000391.4(TPP1):c.330G>A (p.Lys110=) rs145853102
NM_000391.4(TPP1):c.376_380+6del
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.381-4C>G rs529421892
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.446A>G (p.His149Arg)
NM_000391.4(TPP1):c.475C>T (p.Leu159Phe)
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.509-5T>C rs375548657
NM_000391.4(TPP1):c.509-8C>A
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile)
NM_000391.4(TPP1):c.542C>A (p.Ser181Tyr)
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.4(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu)
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile) rs1589948627
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr) rs372787642
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)
NM_000391.4(TPP1):c.687+6C>T rs768924191
NM_000391.4(TPP1):c.688-10C>T rs747731043
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.688-7T>A rs375262484
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) rs1326646704
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261
NM_000391.4(TPP1):c.741C>T (p.Phe247=) rs372817942
NM_000391.4(TPP1):c.746G>T (p.Gly249Val) rs1202808351
NM_000391.4(TPP1):c.761A>G (p.Gln254Arg)
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
NM_000391.4(TPP1):c.770T>C (p.Val257Ala)
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser) rs773247372
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.778G>C (p.Val260Leu)
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.4(TPP1):c.800G>A (p.Gly267Asp)
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) rs766541487
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.847G>A (p.Ala283Thr)
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.4(TPP1):c.881G>A (p.Ser294Asn)
NM_000391.4(TPP1):c.885T>C (p.Pro295=)
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys) rs1175465002
NM_000391.4(TPP1):c.90-2A>T
NM_000391.4(TPP1):c.90-3C>T
NM_000391.4(TPP1):c.918G>A (p.Gln306=) rs943551240
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.941_942del (p.Glu314fs)
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.4(TPP1):c.956A>G (p.His319Arg) rs745310554
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala)
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser)
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn) rs767656036
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly)
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys)
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu) rs1586389806
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val) rs1313467019
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg) rs137965290
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp) rs188098799
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln)
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu)
NM_000742.4(CHRNA2):c.1159G>A (p.Val387Met)
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=) rs764346961
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys) rs1060503072
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) rs761054762
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu) rs745670660
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala) rs747909980
NM_000742.4(CHRNA2):c.122T>C (p.Leu41Pro)
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs)
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) rs370878600
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys)
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly) rs1064795452
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr) rs767138285
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)
NM_000742.4(CHRNA2):c.1317C>T (p.His439=) rs775578495
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=) rs544902151
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val)
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) rs778197366
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser) rs757019076
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met) rs765948265
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val)
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.4(CHRNA2):c.1410G>A (p.Leu470=) rs1586388697
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp)
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val)
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn) rs141072985
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1437C>T (p.His479=) rs374849310
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp) rs369803320
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) rs994299183
NM_000742.4(CHRNA2):c.1464+7_1464+8del rs763426344
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305
NM_000742.4(CHRNA2):c.1465-2A>G rs1279319311
NM_000742.4(CHRNA2):c.1465-3C>T
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg) rs762003141
NM_000742.4(CHRNA2):c.149C>G (p.Pro50Arg)
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn)
NM_000742.4(CHRNA2):c.150G>T (p.Pro50=) rs758848783
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val) rs528528743
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile) rs796052306
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)
NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=) rs777412930
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu) rs761493925
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg)
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe)
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val) rs1473197891
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln) rs548268816
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=) rs144316375
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys) rs201890355
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His) rs201922955
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.222G>A (p.Ala74=) rs369806823
NM_000742.4(CHRNA2):c.223C>T (p.Arg75Cys)
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile)
NM_000742.4(CHRNA2):c.246C>T (p.Asp82=) rs201244136
NM_000742.4(CHRNA2):c.276C>T (p.Ile92=) rs201944711
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn) rs775714882
NM_000742.4(CHRNA2):c.295-16_295-7dup rs776047724
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile) rs1341647863
NM_000742.4(CHRNA2):c.346A>G (p.Ser116Gly)
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=) rs778279138
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp)
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) rs150112824
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly)
NM_000742.4(CHRNA2):c.444_446CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.449+3A>T rs750588205
NM_000742.4(CHRNA2):c.450-9T>A
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219
NM_000742.4(CHRNA2):c.472A>G (p.Thr158Ala)
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg)
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) rs1563319139
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter) rs192887571
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn)
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg) rs768575325
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met) rs1488678087
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs)
NM_000742.4(CHRNA2):c.609C>T (p.Ser203=) rs761237311
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn) rs781326114
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=) rs143536618
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=) rs1050947622
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys)
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp) rs933808461
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=) rs1321895505
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala) rs768590131
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=) rs1060504822
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly) rs544814869
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn) rs763633128
NM_000742.4(CHRNA2):c.73+4A>C
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) rs775595773
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.759C>T (p.Pro253=) rs144913811
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn) rs1586390822
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=) rs746292157
NM_000742.4(CHRNA2):c.795G>A (p.Pro265=) rs756903177
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile) rs1554514530
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066
NM_000742.4(CHRNA2):c.852G>A (p.Val284=) rs1357751027
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=) rs151068685
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) rs764887214
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro) rs1233767222
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile)
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys) rs1563318247
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg)
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=) rs140118184
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471
NM_000744.6(CHRNA4):c.1158C>T (p.Pro386=) rs45564639
NM_000744.6(CHRNA4):c.126G>A (p.Lys42=) rs149588336
NM_000744.6(CHRNA4):c.1278C>T (p.Ser426=) rs202169925
NM_000744.6(CHRNA4):c.147C>T (p.Asn49=) rs201484306
NM_000744.6(CHRNA4):c.1758+11C>T rs45442394
NM_000744.6(CHRNA4):c.1758+9C>T rs202235637
NM_000744.6(CHRNA4):c.198C>T (p.Phe66=) rs201018244
NM_000744.6(CHRNA4):c.229-10G>A rs776781462
NM_000744.6(CHRNA4):c.327C>T (p.Thr109=) rs200741415
NM_000744.6(CHRNA4):c.383+7C>T rs200690355
NM_000744.6(CHRNA4):c.384-8C>G rs369806756
NM_000744.6(CHRNA4):c.384-9C>T rs199992800
NM_000744.6(CHRNA4):c.39G>A (p.Pro13=) rs1158391765
NM_000744.6(CHRNA4):c.669C>T (p.Tyr223=) rs79068736
NM_000744.6(CHRNA4):c.77-10C>T rs200490160
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.6(CHRNA4):c.77-5C>T rs200082259
NM_000744.6(CHRNA4):c.77-5del rs1209439525
NM_000744.6(CHRNA4):c.801G>A (p.Leu267=) rs747762347
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu) rs121912262
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met) rs201673381
NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp) rs200069626
NM_000744.7(CHRNA4):c.1033C>T (p.Arg345Cys) rs142260793
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met) rs121912264
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr) rs201052218
NM_000744.7(CHRNA4):c.105C>T (p.His35=) rs199541666
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439
NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His)
NM_000744.7(CHRNA4):c.1062C>T (p.Arg354=) rs764108665
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter) rs1555837732
NM_000744.7(CHRNA4):c.1077G>C (p.Lys359Asn)
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu) rs267606048
NM_000744.7(CHRNA4):c.1083G>A (p.Pro361=) rs202140852
NM_000744.7(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.7(CHRNA4):c.1104C>T (p.Cys368=) rs202166947
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp)
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln) rs121912267
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys) rs1064794565
NM_000744.7(CHRNA4):c.112G>C (p.Glu38Gln)
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs)
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn) rs1601474256
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.7(CHRNA4):c.1148G>A (p.Arg383His) rs762374374
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=) rs45564639
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly) rs45604738
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu) rs121912268
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs) rs1435638963
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala)
NM_000744.7(CHRNA4):c.1188C>T (p.Ser396=) rs201164674
NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe)
NM_000744.7(CHRNA4):c.1196A>G (p.Gln399Arg) rs781131183
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr)
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs)
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu) rs1568808891
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.7(CHRNA4):c.1227_1228inv (p.Val410Ile)
NM_000744.7(CHRNA4):c.1231C>A (p.Pro411Thr)
NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273
NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=) rs121912274
NM_000744.7(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser) rs764808511
NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu) rs560507450
NM_000744.7(CHRNA4):c.1300C>A (p.Pro434Thr) rs545104411
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser) rs545104411
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly)
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318
NM_000744.7(CHRNA4):c.1318G>C (p.Ala440Pro)
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp) rs796052319
NM_000744.7(CHRNA4):c.132C>T (p.Leu44=) rs1555840462
NM_000744.7(CHRNA4):c.1334C>T (p.Ser445Leu) rs773253903
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.7(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu)
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro) rs753598324
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln)
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277
NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr) rs1568808487
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly)
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.7(CHRNA4):c.1403T>C (p.Val468Ala) rs766778904
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556
NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.7(CHRNA4):c.1420C>T (p.Pro474Ser) rs773450609
NM_000744.7(CHRNA4):c.1421C>G (p.Pro474Arg) rs199778549
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=) rs121912279
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=) rs80307076
NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu)
NM_000744.7(CHRNA4):c.1440C>T (p.Gly480=) rs749506890
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp) rs998924085
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp) rs200200279
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.7(CHRNA4):c.1483C>T (p.Arg495Ter)
NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro) rs549863396
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser)
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
NM_000744.7(CHRNA4):c.1510G>A (p.Gly504Ser) rs201244483
NM_000744.7(CHRNA4):c.1520C>T (p.Ala507Val) rs747883053
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser) rs111286066
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=) rs56069517
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=) rs758693290
NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser) rs200795334
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys) rs754133410
NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys) rs201864944
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132
NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=) rs201441215
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) rs142646795
NM_000744.7(CHRNA4):c.1574A>G (p.Gln525Arg)
NM_000744.7(CHRNA4):c.1576C>T (p.Pro526Ser) rs1064795533
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.7(CHRNA4):c.1600_1602AAG[1] (p.Lys535del)
NM_000744.7(CHRNA4):c.1609C>T (p.Pro537Ser) rs758895760
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu) rs121912281
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg)
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly) rs367658654
NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys) rs367658654
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile)
NM_000744.7(CHRNA4):c.1661C>T (p.Pro554Leu) rs56000199
NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=) rs121912284
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser) rs757510859
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=) rs199829902
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu) rs77345643
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro) rs1282336623
NM_000744.7(CHRNA4):c.1682C>T (p.Ser561Leu) rs199949135
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln) rs200810080
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) rs796052312
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly) rs76895198
NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val) rs76895198
NM_000744.7(CHRNA4):c.1708G>C (p.Gly570Arg)
NM_000744.7(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn) rs537904499
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.7(CHRNA4):c.1746_1747CA[1] (p.Thr583fs) rs772170088
NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872
NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu) rs775143571
NM_000744.7(CHRNA4):c.177G>A (p.Ser59=) rs138295365
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu) rs112051150
NM_000744.7(CHRNA4):c.1815G>A (p.Met605Ile)
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu) rs150451372
NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile) rs201168195
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu) rs1568805215
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr) rs199852690
NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys) rs748440038
NM_000744.7(CHRNA4):c.194G>A (p.Arg65His)
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) rs1025632281
NM_000744.7(CHRNA4):c.211G>A (p.Ala71Thr) rs200527878
NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val) rs753677594
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu)
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met)
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn) rs1204737071
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met) rs199699339
NM_000744.7(CHRNA4):c.258C>T (p.Asn86=) rs140239470
NM_000744.7(CHRNA4):c.274-1G>A
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn) rs1427242612
NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)
NM_000744.7(CHRNA4):c.345C>T (p.Ser115=) rs201033859
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu) rs377114983
NM_000744.7(CHRNA4):c.363G>A (p.Pro121=)
NM_000744.7(CHRNA4):c.372C>T (p.Val124=) rs201386851
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe) rs1568816521
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His)
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg) rs796052313
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944
NM_000744.7(CHRNA4):c.401C>T (p.Ala134Val)
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln) rs1379403896
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502
NM_000744.7(CHRNA4):c.431del (p.Phe144fs)
NM_000744.7(CHRNA4):c.437A>G (p.Asp146Gly)
NM_000744.7(CHRNA4):c.438C>T (p.Asp146=) rs147853603
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter) rs200747769
NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu) rs121912244
NM_000744.7(CHRNA4):c.462G>A (p.Pro154=) rs121912245
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile) rs762764855
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
NM_000744.7(CHRNA4):c.552C>T (p.Tyr184=) rs112301452
NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly) rs200197645
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln) rs121912248
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys) rs144716263
NM_000744.7(CHRNA4):c.590G>A (p.Arg197His) rs373516964
NM_000744.7(CHRNA4):c.597C>A (p.Asp199Glu)
NM_000744.7(CHRNA4):c.602T>G (p.Leu201Arg)
NM_000744.7(CHRNA4):c.606C>G (p.Asp202Glu)
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala)
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr) rs758348186
NM_000744.7(CHRNA4):c.643G>A (p.Val215Met)
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly)
NM_000744.7(CHRNA4):c.678_679inv (p.Ala227Thr)
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val) rs1568810474
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr) rs1568810345
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe)
NM_000744.7(CHRNA4):c.777C>T (p.Cys259=) rs1555837947
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val) rs761362001
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys)
NM_000744.7(CHRNA4):c.828G>A (p.Thr276=) rs2234932
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro)
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys) rs121909580
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.841G>A (p.Val281Met) rs764238999
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val) rs1601475770
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.7(CHRNA4):c.879C>T (p.Thr293=) rs371527699
NM_000744.7(CHRNA4):c.880G>A (p.Glu294Lys) rs201654194
NM_000744.7(CHRNA4):c.912A>G (p.Pro304=) rs1041716120
NM_000744.7(CHRNA4):c.921C>T (p.Gly307=)
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val)
NM_000744.7(CHRNA4):c.948C>T (p.Phe316=) rs121912259
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp)
NM_000744.7(CHRNA4):c.961A>G (p.Ile321Val) rs375340441
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=) rs121912261
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val) rs200985465
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met) rs531615515
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp)
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met)
NM_000744.7(CHRNA4):c.99G>C (p.Arg33=) rs539718301
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) rs927693883
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) rs141511378
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) rs778458803
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) rs1571022654
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His)
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His)
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) rs141689121
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) rs1557850747
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=) rs1180459670
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3])
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys)
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser) rs753731408
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp)
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) rs778714852
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe)
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys) rs542041934
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) rs1409415937
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=) rs1020120934
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg)
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val)
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu)
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=) rs201171352
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) rs1553204404
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His)
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) rs199743038
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp)
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) rs1557852381
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487
NM_000748.3(CHRNB2):c.1339-6A>T rs200177119
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs)
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter) rs761717685
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn)
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) rs1206411079
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser)
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu)
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala)
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp) rs1304588530
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) rs773706734
NM_000748.3(CHRNB2):c.210+10G>A rs200196583
NM_000748.3(CHRNB2):c.210+9A>G rs3926124
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln)
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp)
NM_000748.3(CHRNB2):c.255+6C>T rs754415116
NM_000748.3(CHRNB2):c.255+7G>A rs190374968
NM_000748.3(CHRNB2):c.255+7G>C rs190374968
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) rs144508607
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp)
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile)
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp) rs372273025
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=) rs151054217
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=) rs780464481
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr)
NM_000748.3(CHRNB2):c.483C>T (p.His161=) rs190967991
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser)
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) rs1469333218
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His) rs768297928
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val)
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) rs572595325
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) rs772174020
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) rs370886747
NM_000748.3(CHRNB2):c.65-2del
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) rs1557851605
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met)
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=) rs71628622
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) rs369234693
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) rs140739605
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser) rs754992449
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)
NM_000748.3(CHRNB2):c.930del (p.Ser311fs)
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile)
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=)
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) rs201004255
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu)
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met)
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) rs1207496178
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr)
NM_001042432.2(CLN3):c.101A>G (p.His34Arg)
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys)
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=) rs1232787477
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=) rs757106140
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val)
NM_001042432.2(CLN3):c.125+1G>C
NM_001042432.2(CLN3):c.126-8C>T rs770136863
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn)
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu)
NM_001042432.2(CLN3):c.214_216del (p.Gln72del)
NM_001042432.2(CLN3):c.223-5A>G rs1210022838
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala)
NM_001042432.2(CLN3):c.251A>G (p.His84Arg)
NM_001042432.2(CLN3):c.258C>T (p.Ser86=) rs1596564281
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu)
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser)
NM_001042432.2(CLN3):c.294+10C>G rs367693072
NM_001042432.2(CLN3):c.294+10C>T rs367693072
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val)
NM_001042432.2(CLN3):c.312C>T (p.Asp104=) rs1596563212
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu)
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp)
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg)
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser)
NM_001042432.2(CLN3):c.374+1G>A
NM_001042432.2(CLN3):c.375-2A>T
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val)
NM_001042432.2(CLN3):c.414C>T (p.Ser138=) rs772960606
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr)
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr)
NM_001042432.2(CLN3):c.460+7G>C rs369389378
NM_001042432.2(CLN3):c.461-10C>T rs768274237
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
NM_001042432.2(CLN3):c.47-8T>C rs1596567778
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His)
NM_001042432.2(CLN3):c.534-2A>G
NM_001042432.2(CLN3):c.591G>A (p.Leu197=) rs764082661
NM_001042432.2(CLN3):c.621C>G (p.Leu207=) rs1596561484
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu)
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro)
NM_001042432.2(CLN3):c.693C>T (p.Leu231=) rs376590377
NM_001042432.2(CLN3):c.69C>T (p.Pro23=) rs754235288
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp)
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala)
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val)
NM_001042432.2(CLN3):c.741C>T (p.Ser247=) rs148782327
NM_001042432.2(CLN3):c.744A>C (p.Ala248=) rs1446036630
NM_001042432.2(CLN3):c.759C>T (p.Leu253=) rs772274552
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val)
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
NM_001042432.2(CLN3):c.790+2T>C
NM_001042432.2(CLN3):c.837+3del
NM_001042432.2(CLN3):c.837+5G>A rs756848924
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu)
NM_001042432.2(CLN3):c.945C>T (p.His315=) rs747723206
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr)
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys)
NM_001042432.2(CLN3):c.963-2A>G
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile) rs11558704
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs)
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=) rs1128426
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys)
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu)
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=) rs762516395
NM_001077350.3(NPRL3):c.1089C>T (p.Ser363=)
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg)
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys)
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup)
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=) rs148130584
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)
NM_001077350.3(NPRL3):c.1162-1G>C rs751418986
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys) rs1331117963
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) rs764156867
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.1180_1182GTG[1] (p.Val395del)
NM_001077350.3(NPRL3):c.119-3C>G
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys)
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr) rs1277893899
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser)
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp) rs375530015
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln) rs868451771
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs)
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter)
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His) rs1426917813
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405
NM_001077350.3(NPRL3):c.1251C>T (p.Ser417=)
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080
NM_001077350.3(NPRL3):c.1252_1254GAG[2] (p.Glu420del)
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu) rs762676113
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys)
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu) rs74712570
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=) rs74712570
NM_001077350.3(NPRL3):c.1280_1283delinsTCCC (p.Asp427_Val428delinsValPro) rs1596496451
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile)
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His)
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro) rs376476299
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu)
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln)
NM_001077350.3(NPRL3):c.1302C>T (p.Val434=) rs570086678
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser)
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val)
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys)
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn) rs529009740
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser) rs868572770
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)
NM_001077350.3(NPRL3):c.1351+7C>T rs376215928
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser)
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr) rs752246132
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=) rs571533880
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met) rs1055200832
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys) rs756589112
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His) rs750844568
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=) rs767665276
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn)
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile) rs776554504
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937
NM_001077350.3(NPRL3):c.1544+3_1544+5del
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs) rs1596492194
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys) rs189283988
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=) rs200669192
NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr) rs185556688
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His) rs367598130
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro)
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)
NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=) rs1216277325
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr)
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?) rs756232589
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu) rs1048069050
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=) rs75187722
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr)
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=) rs372639365
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr)
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter)
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly) rs760236969
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln) rs367729589
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr)
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile) rs1596528750
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val)
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met)
NM_001077350.3(NPRL3):c.318+3A>T rs746765533
NM_001077350.3(NPRL3):c.318+8T>G rs370788298
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu)
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.393+3G>C rs1567141885
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr)
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=) rs748812702
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln)
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr)
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys) rs202129021
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989
NM_001077350.3(NPRL3):c.44del (p.Ser15fs)
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met)
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys)
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His)
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys)
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His) rs370299128
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter)
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val)
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=) rs1218964632
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=) rs140092767
NM_001077350.3(NPRL3):c.547+1G>A
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His) rs73478320
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser)
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg)
NM_001077350.3(NPRL3):c.591_629+634del
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn) rs186859701
NM_001077350.3(NPRL3):c.629+4A>G rs1220187651
NM_001077350.3(NPRL3):c.629+9G>C rs142080016
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp) rs769173039
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met)
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu) rs556232826
NM_001077350.3(NPRL3):c.644del (p.Gly215fs)
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp) rs201957188
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu)
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=) rs368272925
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=) rs775687534
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys)
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp) rs577935445
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met)
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro) rs747035776
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=) rs554325689
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.767+6T>C
NM_001077350.3(NPRL3):c.768-10T>G rs566886246
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg)
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro)
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val)
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val)
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys) rs1021394339
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=) rs549291288
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924+7C>G rs778499898
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.925-1G>C
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn)
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter)
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.951G>A (p.Val317=) rs747655659
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser)
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
NM_001077350.3(NPRL3):c.991_993AAC[1] (p.Asn332del) rs1555440242
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu)
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=) rs755114294
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu)
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=)
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=) rs374280707
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) rs1369436425
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg)
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala)
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr)
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=) rs144810863
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) rs775117967
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala)
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn)
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=) rs369098269
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=)
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) rs955890394
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr)
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del)
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser)
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) rs951714195
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser)
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln)
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) rs1578265647
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly)
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr)
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) rs1157815573
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser) rs544862921
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) rs1014065137
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=) rs764387669
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg)
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser)
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val)
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser)
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser)
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) rs770130991
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) rs762557383
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) rs776091682
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) rs762888947
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=) rs150632206
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser)
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup)
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) rs746174564
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=) rs28405693
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln)
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg)
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) rs1480528424
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del)
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del) rs755316101
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup)
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) rs574748973
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)
NM_001099403.2(PRDM8):c.1805_1810AGCTGC[1] (p.602_603QL[1]) rs777876948
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) rs749676209
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=) rs140737026
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser)
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) rs1578268165
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) rs374015672
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) rs200471159
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro)
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile)
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys)
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_001099403.2(PRDM8):c.276C>G (p.Val92=) rs373706543
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=)
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys)
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe)
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile)
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) rs374385368
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu) rs775462847
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser) rs377755509
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_001099403.2(PRDM8):c.634_636CAG[7] (p.Gln217dup) rs748593482
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) rs766078819
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile)
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly)
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu)
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln) rs200010979
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile)
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys)
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly)
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr)
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) rs920460933
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) rs1443007613
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_001099403.2(PRDM8):c.868_870GGC[2] (p.Gly292_Gly294del)
NM_001099403.2(PRDM8):c.868_870GGC[7] (p.Gly293_Gly294dup)
NM_001099403.2(PRDM8):c.868_870GGC[8] (p.Gly292_Gly294dup)
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser)
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) rs767560709
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp)
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=) rs528863020
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=) rs6831357
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516
NM_001112741.1(KCNC1):c.1017A>C (p.Arg339=) rs137989254
NM_001112741.1(KCNC1):c.1065C>T (p.Gly355=) rs533816804
NM_001112741.1(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.1(KCNC1):c.121G>A (p.Asp41Asn) rs1192156090
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.1269G>A (p.Ala423=) rs150682385
NM_001112741.1(KCNC1):c.1287C>A (p.Ala429=) rs139804857
NM_001112741.1(KCNC1):c.131G>A (p.Ser44Asn) rs773455390
NM_001112741.1(KCNC1):c.1399G>C (p.Gly467Arg) rs1477026732
NM_001112741.1(KCNC1):c.1421C>A (p.Ser474Tyr) rs1554991422
NM_001112741.1(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.1(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218
NM_001112741.1(KCNC1):c.1505-8G>A rs1353872876
NM_001112741.1(KCNC1):c.1505A>G (p.Asp502Gly) rs1590109843
NM_001112741.1(KCNC1):c.1518T>C (p.Asn506=) rs747283873
NM_001112741.1(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679
NM_001112741.1(KCNC1):c.1584C>G (p.Pro528=) rs1044982783
NM_001112741.1(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438
NM_001112741.1(KCNC1):c.1619G>A (p.Arg540His) rs375362627
NM_001112741.1(KCNC1):c.1625G>A (p.Arg542Lys) rs1021551048
NM_001112741.1(KCNC1):c.1627T>C (p.Tyr543His) rs775725087
NM_001112741.1(KCNC1):c.1630G>A (p.Gly544Arg) rs758088373
NM_001112741.1(KCNC1):c.1653C>T (p.Thr551=) rs368328020
NM_001112741.1(KCNC1):c.1654G>A (p.Gly552Arg) rs755386451
NM_001112741.1(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647
NM_001112741.1(KCNC1):c.1662C>T (p.Tyr554=) rs578025939
NM_001112741.1(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474
NM_001112741.1(KCNC1):c.1681G>A (p.Gly561Arg) rs1417612823
NM_001112741.1(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169
NM_001112741.1(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.1(KCNC1):c.394G>A (p.Asp132Asn) rs770445113
NM_001112741.1(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769
NM_001112741.1(KCNC1):c.433G>C (p.Gly145Arg) rs759773311
NM_001112741.1(KCNC1):c.435C>T (p.Gly145=) rs767598381
NM_001112741.1(KCNC1):c.494C>T (p.Pro165Leu) rs749790557
NM_001112741.1(KCNC1):c.499G>T (p.Gly167Cys) rs1274575581
NM_001112741.1(KCNC1):c.51G>A (p.Thr17=) rs1423569470
NM_001112741.1(KCNC1):c.523C>T (p.Arg175Cys) rs1197911307
NM_001112741.1(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.1(KCNC1):c.594C>T (p.Phe198=) rs371344625
NM_001112741.1(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
NM_001112741.1(KCNC1):c.636C>T (p.His212=) rs745968113
NM_001112741.1(KCNC1):c.654C>A (p.Ile218=) rs747207268
NM_001112741.1(KCNC1):c.677A>T (p.Asn226Ile) rs73424032
NM_001112741.1(KCNC1):c.683G>T (p.Arg228Leu) rs200873319
NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001112741.1(KCNC1):c.692C>T (p.Thr231Met) rs1554991314
NM_001112741.1(KCNC1):c.696A>C (p.Gln232His) rs775885483
NM_001112741.1(KCNC1):c.701G>A (p.Arg234His) rs763794003
NM_001112741.1(KCNC1):c.709C>T (p.Arg237Trp) rs150993414
NM_001112741.1(KCNC1):c.72G>A (p.Ser24=) rs76929858
NM_001112741.1(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001112741.1(KCNC1):c.788G>A (p.Arg263His) rs775163829
NM_001112741.1(KCNC1):c.831G>T (p.Ser277=) rs765494674
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001112741.1(KCNC1):c.96G>A (p.Thr32=) rs140637569
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=) rs370742331
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1119C>T (p.Pro373=) rs143960025
NM_001112741.2(KCNC1):c.114G>A (p.Ala38=)
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=) rs1590088845
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu)
NM_001112741.2(KCNC1):c.1263G>A (p.Ala421=) rs915600389
NM_001112741.2(KCNC1):c.1266G>A (p.Leu422=)
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu)
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu)
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr)
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys)
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser)
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn)
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val)
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro)
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu)
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln)
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr)
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu)
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu)
NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=) rs1590088932
NM_001112741.2(KCNC1):c.402G>A (p.Ala134=) rs1590089002
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn)
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu)
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp)
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg)
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile)
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His)
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His)
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=) rs143670270
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys)
NM_001112741.2(KCNC1):c.90C>A (p.Pro30=)
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=) rs114815696
NM_001112741.2(KCNC1):c.915C>T (p.Asp305=) rs757117157
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp)
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu)
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys)
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser)
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser)
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile)
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile) rs1581220295
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
NM_001127644.2(GABRA1):c.1059+2T>C
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala) rs749707253
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) rs187648029
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) rs775344663
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val)
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) rs376031361
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr)
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis)
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly)
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile)
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys)
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) rs200716712
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly)
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) rs536603724
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr)
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp)
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) rs766418049
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) rs1378731581
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) rs747452052
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly)
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg)
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr) rs1581207094
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu)
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_001127644.2(GABRA1):c.703+5G>A
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) rs1581215256
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) rs775895535
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe)
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768
NM_001127644.2(GABRA1):c.856+8C>T rs1554087151
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile)
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu)
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) rs1581220195
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr)
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys)
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1008-2A>G
NM_001134407.3(GRIN2A):c.1008-9C>G rs111844068
NM_001134407.3(GRIN2A):c.1008A>G (p.Pro336=)
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His) rs777505684
NM_001134407.3(GRIN2A):c.1057G>A (p.Glu353Lys) rs373239575
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.1122+10C>T rs372687112
NM_001134407.3(GRIN2A):c.1123-1G>A
NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=) rs139119497
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys) rs1555496181
NM_001134407.3(GRIN2A):c.1191C>T (p.Ser397=) rs1231295919
NM_001134407.3(GRIN2A):c.11T>C (p.Val4Ala) rs1596587600
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs)
NM_001134407.3(GRIN2A):c.1206T>G (p.Asp402Glu)
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs)
NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile) rs749504561
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_001134407.3(GRIN2A):c.1264_1308delinsGTCAAAGTTCCGTGGAAA (p.Ile422_Cys436delinsValLysValProTrpLys) rs1596494678
NM_001134407.3(GRIN2A):c.1271C>A (p.Pro424His) rs375260513
NM_001134407.3(GRIN2A):c.1323A>C (p.Lys441Asn) rs903996899
NM_001134407.3(GRIN2A):c.1328+2T>C
NM_001134407.3(GRIN2A):c.1328+5G>A rs1596494606
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.1331A>G (p.Asn444Ser)
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile) rs367543145
NM_001134407.3(GRIN2A):c.1341T>A (p.Asn447Lys)
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.136G>A (p.Val46Met) rs796052542
NM_001134407.3(GRIN2A):c.137T>A (p.Val46Glu)
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.1409C>G (p.Thr470Ser)
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.1418T>C (p.Phe473Ser)
NM_001134407.3(GRIN2A):c.1433A>G (p.Tyr478Cys)
NM_001134407.3(GRIN2A):c.1458C>A (p.Gly486=) rs144572467
NM_001134407.3(GRIN2A):c.145C>A (p.Arg49Ser) rs1413736970
NM_001134407.3(GRIN2A):c.1489A>T (p.Ile497Phe) rs1596483730
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
NM_001134407.3(GRIN2A):c.1497+5G>C
NM_001134407.3(GRIN2A):c.1498-8G>T rs1242162646
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241
NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=) rs112848130
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter)
NM_001134407.3(GRIN2A):c.1551A>C (p.Glu517Asp)
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1629C>T (p.Thr543=) rs758378272
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1675G>A (p.Val559Met) rs1476673300
NM_001134407.3(GRIN2A):c.167G>T (p.Gly56Val)
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1751A>G (p.Tyr584Cys) rs1596476519
NM_001134407.3(GRIN2A):c.1770A>C (p.Lys590Asn) rs563779542
NM_001134407.3(GRIN2A):c.1777+6G>C
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140
NM_001134407.3(GRIN2A):c.179C>T (p.Ala60Val) rs758117698
NM_001134407.3(GRIN2A):c.1833G>A (p.Leu611=) rs745506751
NM_001134407.3(GRIN2A):c.1842T>C (p.Asn614=) rs138236719
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp)
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
NM_001134407.3(GRIN2A):c.1970A>C (p.Glu657Ala)
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989
NM_001134407.3(GRIN2A):c.2014A>G (p.Arg672Gly)
NM_001134407.3(GRIN2A):c.2024A>C (p.Asp675Ala)
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2134G>A (p.Gly712Arg)
NM_001134407.3(GRIN2A):c.2145C>T (p.Asp715=) rs141471530
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542
NM_001134407.3(GRIN2A):c.2174T>C (p.Leu725Pro)
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138
NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=) rs1473479428
NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=) rs143779792
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2325C>T (p.Ile775=) rs748291723
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)
NM_001134407.3(GRIN2A):c.2331G>A (p.Leu777=) rs118035164
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.2356+10C>T rs780647266
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile)
NM_001134407.3(GRIN2A):c.2445C>A (p.Asp815Glu) rs754929310
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2472G>A (p.Leu824=)
NM_001134407.3(GRIN2A):c.2505C>T (p.Phe835=) rs771342023
NM_001134407.3(GRIN2A):c.2518C>T (p.Leu840Phe)
NM_001134407.3(GRIN2A):c.2547C>T (p.Phe849=) rs758351955
NM_001134407.3(GRIN2A):c.2549C>T (p.Thr850Met) rs1060503230
NM_001134407.3(GRIN2A):c.2563G>A (p.Asp855Asn) rs796052564
NM_001134407.3(GRIN2A):c.2581T>C (p.Phe861Leu)
NM_001134407.3(GRIN2A):c.258G>A (p.Val86=) rs774606054
NM_001134407.3(GRIN2A):c.2595+5G>C rs1064794679
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn)
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2635_2637AAG[2] (p.Lys881del) rs766019656
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg) rs183029507
NM_001134407.3(GRIN2A):c.2663C>T (p.Thr888Met)
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_001134407.3(GRIN2A):c.2674A>G (p.Ser892Gly) rs1060503229
NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)
NM_001134407.3(GRIN2A):c.268A>G (p.Met90Val)
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2695C>T (p.Arg899Trp) rs796052553
NM_001134407.3(GRIN2A):c.2735C>G (p.Ser912Cys) rs200588845
NM_001134407.3(GRIN2A):c.2744T>C (p.Met915Thr) rs1060503231
NM_001134407.3(GRIN2A):c.2749T>G (p.Ser917Ala) rs1060503232
NM_001134407.3(GRIN2A):c.2765C>T (p.Ala922Val) rs200037904
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs) rs1596377481
NM_001134407.3(GRIN2A):c.2779A>G (p.Arg927Gly) rs761044372
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs) rs1596377439
NM_001134407.3(GRIN2A):c.2805T>G (p.Val935=) rs762984731
NM_001134407.3(GRIN2A):c.2809G>A (p.Asp937Asn)
NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly)
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_001134407.3(GRIN2A):c.2877C>T (p.Asn959=) rs756576680
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.288C>T (p.His96=) rs74853460
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe) rs1596586969
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=) rs781646325
NM_001134407.3(GRIN2A):c.2998G>A (p.Val1000Met) rs1596377028
NM_001134407.3(GRIN2A):c.3003C>T (p.Ser1001=) rs199551487
NM_001134407.3(GRIN2A):c.3017C>A (p.Ala1006Glu)
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr) rs753651908
NM_001134407.3(GRIN2A):c.3030C>T (p.Pro1010=) rs763891276
NM_001134407.3(GRIN2A):c.3039G>A (p.Leu1013=) rs577077724
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3061A>G (p.Ile1021Val)
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser) rs560057284
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=) rs1555482675
NM_001134407.3(GRIN2A):c.3116C>T (p.Ala1039Val)
NM_001134407.3(GRIN2A):c.3118G>A (p.Glu1040Lys)
NM_001134407.3(GRIN2A):c.311C>G (p.Thr104Arg) rs1596586938
NM_001134407.3(GRIN2A):c.3164A>T (p.Glu1055Val)
NM_001134407.3(GRIN2A):c.3176C>G (p.Ser1059Cys) rs772497745
NM_001134407.3(GRIN2A):c.3178G>A (p.Asp1060Asn) rs879255358
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_001134407.3(GRIN2A):c.3191C>T (p.Thr1064Met) rs756930722
NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met) rs777249842
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3216G>T (p.Arg1072Ser) rs767326993
NM_001134407.3(GRIN2A):c.3220C>T (p.Pro1074Ser)
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_001134407.3(GRIN2A):c.3268G>A (p.Val1090Met)
NM_001134407.3(GRIN2A):c.3269T>C (p.Val1090Ala) rs1596376431
NM_001134407.3(GRIN2A):c.3276C>G (p.Ser1092=) rs775325646
NM_001134407.3(GRIN2A):c.3293G>A (p.Cys1098Tyr) rs746257794
NM_001134407.3(GRIN2A):c.3309C>T (p.Arg1103=)
NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile)
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783
NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr) rs1243412120
NM_001134407.3(GRIN2A):c.3393T>G (p.Asp1131Glu)
NM_001134407.3(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552
NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=) rs150487431
NM_001134407.3(GRIN2A):c.3457G>T (p.Asp1153Tyr)
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134407.3(GRIN2A):c.3476G>A (p.Arg1159His) rs534440095
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro) rs534440095
NM_001134407.3(GRIN2A):c.3476G>T (p.Arg1159Leu) rs534440095
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342
NM_001134407.3(GRIN2A):c.3515T>C (p.Leu1172Ser)
NM_001134407.3(GRIN2A):c.3530G>A (p.Gly1177Glu)
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala) rs142670870
NM_001134407.3(GRIN2A):c.3539A>T (p.Asn1180Ile) rs972229279
NM_001134407.3(GRIN2A):c.3544G>A (p.Asp1182Asn)
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674
NM_001134407.3(GRIN2A):c.358A>G (p.Thr120Ala)
NM_001134407.3(GRIN2A):c.3597G>C (p.Pro1199=) rs368418052
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=) rs750892541
NM_001134407.3(GRIN2A):c.3659A>C (p.Asn1220Thr) rs1131691913
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_001134407.3(GRIN2A):c.3737A>G (p.Tyr1246Cys) rs779437393
NM_001134407.3(GRIN2A):c.3795G>T (p.Gln1265His) rs147556384
NM_001134407.3(GRIN2A):c.3804G>T (p.Gln1268His)
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530
NM_001134407.3(GRIN2A):c.3817C>A (p.Gln1273Lys) rs762745084
NM_001134407.3(GRIN2A):c.3820A>G (p.Asn1274Asp) rs1567275934
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3834A>G (p.Gln1278=)
NM_001134407.3(GRIN2A):c.3846C>T (p.Asn1282=) rs1596374956
NM_001134407.3(GRIN2A):c.3848A>G (p.Lys1283Arg)
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met) rs367543132
NM_001134407.3(GRIN2A):c.3875A>G (p.Tyr1292Cys)
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs)
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131
NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu)
NM_001134407.3(GRIN2A):c.3952C>T (p.Arg1318Trp)
NM_001134407.3(GRIN2A):c.3953G>A (p.Arg1318Gln) rs149745535
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278
NM_001134407.3(GRIN2A):c.397A>G (p.Met133Val)
NM_001134407.3(GRIN2A):c.4084A>G (p.Thr1362Ala) rs77282679
NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys)
NM_001134407.3(GRIN2A):c.4126C>G (p.Arg1376Gly)
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys) rs1426934537
NM_001134407.3(GRIN2A):c.414+7C>T rs748888605
NM_001134407.3(GRIN2A):c.4153G>A (p.Asp1385Asn)
NM_001134407.3(GRIN2A):c.4176A>G (p.Pro1392=) rs886043681
NM_001134407.3(GRIN2A):c.4184C>T (p.Ala1395Val)
NM_001134407.3(GRIN2A):c.4185G>A (p.Ala1395=) rs778429009
NM_001134407.3(GRIN2A):c.418C>A (p.Pro140Thr)
NM_001134407.3(GRIN2A):c.418C>G (p.Pro140Ala) rs776317814
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) rs367543126
NM_001134407.3(GRIN2A):c.422C>A (p.Thr141Lys) rs78631453
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4230G>A (p.Ser1410=) rs762437402
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885
NM_001134407.3(GRIN2A):c.4247G>A (p.Ser1416Asn)
NM_001134407.3(GRIN2A):c.4247G>C (p.Ser1416Thr) rs377712891
NM_001134407.3(GRIN2A):c.4259A>G (p.Asn1420Ser) rs775911833
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.4310A>G (p.Asn1437Ser) rs1427097667
NM_001134407.3(GRIN2A):c.4313T>C (p.Met1438Thr)
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs)
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045
NM_001134407.3(GRIN2A):c.4350T>C (p.Asn1450=) rs761187900
NM_001134407.3(GRIN2A):c.4355G>A (p.Arg1452His) rs774039446
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_001134407.3(GRIN2A):c.4373C>G (p.Pro1458Arg) rs933017490
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met) rs763500409
NM_001134407.3(GRIN2A):c.468G>A (p.Thr156=) rs773513210
NM_001134407.3(GRIN2A):c.476T>C (p.Leu159Pro) rs1555455805
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.498C>G (p.Asp166Glu)
NM_001134407.3(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.559G>A (p.Val187Ile) rs751692867
NM_001134407.3(GRIN2A):c.566C>A (p.Thr189Asn)
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=) rs367543130
NM_001134407.3(GRIN2A):c.61C>G (p.Pro21Ala) rs1285592726
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124
NM_001134407.3(GRIN2A):c.62C>T (p.Pro21Leu)
NM_001134407.3(GRIN2A):c.634G>A (p.Asp212Asn) rs1396813794
NM_001134407.3(GRIN2A):c.63G>A (p.Pro21=)
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658
NM_001134407.3(GRIN2A):c.702C>T (p.Asp234=) rs150208429
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_001134407.3(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val) rs765986049
NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met) rs747214620
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_001134407.3(GRIN2A):c.824G>A (p.Gly275Glu)
NM_001134407.3(GRIN2A):c.828C>G (p.Leu276=) rs752295285
NM_001134407.3(GRIN2A):c.829A>G (p.Ile277Val)
NM_001134407.3(GRIN2A):c.837C>G (p.Val279=) rs55885632
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter)
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter)
NM_001134407.3(GRIN2A):c.854A>C (p.Asp285Ala)
NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=) rs201002710
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876
NM_001134407.3(GRIN2A):c.883G>C (p.Gly295Arg)
NM_001134407.3(GRIN2A):c.886A>G (p.Ile296Val) rs953400144
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr) rs901717931
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser) rs901717931
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys) rs1596344343
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu) rs778386295
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp)
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
NM_001134407.3(GRIN2A):c.949A>C (p.Lys317Gln) rs141326581
NM_001134407.3(GRIN2A):c.952G>A (p.Ala318Thr) rs1567186996
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)
NM_001134407.3(GRIN2A):c.968A>G (p.Gln323Arg)
NM_001134407.3(GRIN2A):c.970A>G (p.Met324Val) rs1596344233
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) rs367543120
NM_001142604.2(PPT1):c.125-2560_125-2559del rs1570470281
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) rs1564595933
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr)
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup)
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup)
NM_001161352.2(KCNMA1):c.117_119CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_001161352.2(KCNMA1):c.1224-8C>T rs777700626
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile)
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
NM_001161352.2(KCNMA1):c.13_15GGC[2] (p.Gly7_Gly10del)
NM_001161352.2(KCNMA1):c.13_15GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13_15GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) rs200608314
NM_001161352.2(KCNMA1):c.144_146TTC[1] (p.Ser58_Ser60del)
NM_001161352.2(KCNMA1):c.144_146TTC[2] (p.Ser59_Ser60del)
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu)
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) rs760119167
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) rs201400928
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_001161352.2(KCNMA1):c.1593+10C>T rs200770082
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) rs368568833
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) rs1447211434
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) rs768361935
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del)
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del)
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) rs746337315
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu)
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg)
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) rs749265202
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) rs80266334
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu)
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr)
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) rs780686705
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg)
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn)
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu)
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser)
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter)
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val)
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) rs770702438
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg)
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) rs200714367
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser)
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg)
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) rs766016095
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs)
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) rs199970585
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) rs745890036
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) rs138823071
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del)
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) rs991345002
NM_001161352.2(KCNMA1):c.3016+6G>A
NM_001161352.2(KCNMA1):c.3017-5T>C rs202032522
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) rs369363787
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) rs1590247904
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) rs774352020
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) rs777115771
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=)
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=)
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913
NM_001161352.2(KCNMA1):c.3147+6T>C
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270
NM_001161352.2(KCNMA1):c.31_33AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=)
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) rs756169265
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) rs780623276
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) rs765051720
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) rs202172473
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) rs200178895
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg)
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) rs201924445
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) rs141758134
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
NM_001161352.2(KCNMA1):c.36_38CGG[10] (p.Gly18_Gly20dup)
NM_001161352.2(KCNMA1):c.36_38CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) rs75843969
NM_001161352.2(KCNMA1):c.378+7C>T
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup)
NM_001161352.2(KCNMA1):c.603-5A>G rs907422214
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg)
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val)
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350
NM_001161352.2(KCNMA1):c.697-4C>T rs200844223
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg)
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe)
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234
NM_001161352.2(KCNMA1):c.884+8G>A rs777197385
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser)
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) rs1596161285
NM_001167961.2(KCTD7):c.209G>A (p.Arg70Gln)
NM_001167961.2(KCTD7):c.217G>A (p.Glu73Lys)
NM_001167961.2(KCTD7):c.239T>C (p.Met80Thr)
NM_001167961.2(KCTD7):c.251G>A (p.Arg84Gln)
NM_001167961.2(KCTD7):c.331del (p.Leu111fs)
NM_001167961.2(KCTD7):c.523C>T (p.Arg175Trp)
NM_001167961.2(KCTD7):c.640C>T (p.Arg214Trp)
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1074A>G (p.Ile358Met)
NM_001242896.3(DEPDC5):c.1082-3T>A
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs)
NM_001242896.3(DEPDC5):c.1160C>T (p.Ala387Val)
NM_001242896.3(DEPDC5):c.1217+8C>A
NM_001242896.3(DEPDC5):c.1218-1G>C
NM_001242896.3(DEPDC5):c.1253G>T (p.Ser418Ile)
NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=) rs376799291
NM_001242896.3(DEPDC5):c.1329C>T (p.Leu443=) rs758352057
NM_001242896.3(DEPDC5):c.1449T>C (p.Ser483=) rs1461464062
NM_001242896.3(DEPDC5):c.1456G>A (p.Glu486Lys)
NM_001242896.3(DEPDC5):c.1475G>A (p.Arg492Gln)
NM_001242896.3(DEPDC5):c.1489T>C (p.Ser497Pro)
NM_001242896.3(DEPDC5):c.1609C>T (p.His537Tyr)
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr)
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln)
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro)
NM_001242896.3(DEPDC5):c.1700G>A (p.Arg567Gln)
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)
NM_001242896.3(DEPDC5):c.1775C>T (p.Thr592Met)
NM_001242896.3(DEPDC5):c.180A>G (p.Glu60=) rs550525739
NM_001242896.3(DEPDC5):c.1871-4G>T
NM_001242896.3(DEPDC5):c.1877C>A (p.Ser626Tyr)
NM_001242896.3(DEPDC5):c.194-3T>C
NM_001242896.3(DEPDC5):c.2035G>A (p.Gly679Ser)
NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys)
NM_001242896.3(DEPDC5):c.2101G>A (p.Ala701Thr)
NM_001242896.3(DEPDC5):c.2161C>A (p.Pro721Thr)
NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro)
NM_001242896.3(DEPDC5):c.2271C>T (p.Thr757=) rs373009424
NM_001242896.3(DEPDC5):c.2281C>T (p.Pro761Ser)
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)
NM_001242896.3(DEPDC5):c.2335C>G (p.Pro779Ala)
NM_001242896.3(DEPDC5):c.2387A>G (p.Gln796Arg)
NM_001242896.3(DEPDC5):c.2412C>T (p.Cys804=) rs201290710
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys)
NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=) rs201609075
NM_001242896.3(DEPDC5):c.2590A>G (p.Thr864Ala)
NM_001242896.3(DEPDC5):c.2715G>C (p.Trp905Cys)
NM_001242896.3(DEPDC5):c.2730C>T (p.His910=) rs140039884
NM_001242896.3(DEPDC5):c.2745G>T (p.Glu915Asp)
NM_001242896.3(DEPDC5):c.2808T>G (p.Ile936Met)
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter)
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs)
NM_001242896.3(DEPDC5):c.2904C>T (p.Ile968=) rs200175960
NM_001242896.3(DEPDC5):c.2921G>A (p.Arg974His)
NM_001242896.3(DEPDC5):c.2934C>T (p.Asp978=) rs559006082
NM_001242896.3(DEPDC5):c.2935G>A (p.Glu979Lys)
NM_001242896.3(DEPDC5):c.2942A>G (p.Gln981Arg)
NM_001242896.3(DEPDC5):c.2997G>T (p.Arg999=) rs372078779
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr)
NM_001242896.3(DEPDC5):c.3019C>T (p.Arg1007Trp)
NM_001242896.3(DEPDC5):c.3021+1G>A
NM_001242896.3(DEPDC5):c.3049A>G (p.Met1017Val)
NM_001242896.3(DEPDC5):c.3068C>T (p.Thr1023Met)
NM_001242896.3(DEPDC5):c.3069G>A (p.Thr1023=) rs201368629
NM_001242896.3(DEPDC5):c.3071A>C (p.His1024Pro)
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs)
NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter)
NM_001242896.3(DEPDC5):c.3202G>C (p.Ala1068Pro)
NM_001242896.3(DEPDC5):c.3203C>T (p.Ala1068Val)
NM_001242896.3(DEPDC5):c.3223A>G (p.Ser1075Gly)
NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn)
NM_001242896.3(DEPDC5):c.3242C>T (p.Thr1081Ile)
NM_001242896.3(DEPDC5):c.3269G>A (p.Gly1090Glu)
NM_001242896.3(DEPDC5):c.3302G>A (p.Arg1101His)
NM_001242896.3(DEPDC5):c.3340G>C (p.Asp1114His)
NM_001242896.3(DEPDC5):c.3342C>T (p.Asp1114=) rs774805884
NM_001242896.3(DEPDC5):c.3380G>T (p.Gly1127Val)
NM_001242896.3(DEPDC5):c.3416G>C (p.Ser1139Thr)
NM_001242896.3(DEPDC5):c.3425T>C (p.Phe1142Ser)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter)
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)
NM_001242896.3(DEPDC5):c.3564-3C>G
NM_001242896.3(DEPDC5):c.3578T>A (p.Leu1193Gln)
NM_001242896.3(DEPDC5):c.3605C>T (p.Pro1202Leu)
NM_001242896.3(DEPDC5):c.3606G>A (p.Pro1202=) rs749703301
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)
NM_001242896.3(DEPDC5):c.364-1G>A
NM_001242896.3(DEPDC5):c.3652G>A (p.Val1218Met)
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs)
NM_001242896.3(DEPDC5):c.3695A>G (p.Gln1232Arg)
NM_001242896.3(DEPDC5):c.3731C>G (p.Ser1244Cys)
NM_001242896.3(DEPDC5):c.3732T>A (p.Ser1244=)
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)
NM_001242896.3(DEPDC5):c.3746G>A (p.Arg1249Gln)
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met)
NM_001242896.3(DEPDC5):c.3823G>A (p.Ala1275Thr)
NM_001242896.3(DEPDC5):c.3827C>T (p.Thr1276Ile)
NM_001242896.3(DEPDC5):c.3853G>A (p.Asp1285Asn)
NM_001242896.3(DEPDC5):c.3940C>T (p.Pro1314Ser)
NM_001242896.3(DEPDC5):c.3946C>G (p.Leu1316Val)
NM_001242896.3(DEPDC5):c.3989T>A (p.Phe1330Tyr)
NM_001242896.3(DEPDC5):c.3999T>G (p.Ser1333Arg)
NM_001242896.3(DEPDC5):c.4014C>G (p.Ser1338Arg)
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp)
NM_001242896.3(DEPDC5):c.414A>G (p.Arg138=)
NM_001242896.3(DEPDC5):c.4264G>A (p.Gly1422Arg)
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs)
NM_001242896.3(DEPDC5):c.4296C>T (p.Gly1432=)
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu)
NM_001242896.3(DEPDC5):c.4300C>T (p.Pro1434Ser)
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
NM_001242896.3(DEPDC5):c.4376-7_4376-3del
NM_001242896.3(DEPDC5):c.4405A>G (p.Met1469Val)
NM_001242896.3(DEPDC5):c.4407G>A (p.Met1469Ile)
NM_001242896.3(DEPDC5):c.4427T>C (p.Ile1476Thr)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.445G>A (p.Glu149Lys)
NM_001242896.3(DEPDC5):c.4484C>G (p.Pro1495Arg)
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs)
NM_001242896.3(DEPDC5):c.4559T>A (p.Phe1520Tyr)
NM_001242896.3(DEPDC5):c.4568A>C (p.Gln1523Pro)
NM_001242896.3(DEPDC5):c.4573C>T (p.Arg1525Trp)
NM_001242896.3(DEPDC5):c.4579C>T (p.Arg1527Trp)
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)
NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=) rs373199155
NM_001242896.3(DEPDC5):c.4632C>T (p.Val1544=) rs374597058
NM_001242896.3(DEPDC5):c.4635C>G (p.Gly1545=)
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter)
NM_001242896.3(DEPDC5):c.4689A>G (p.Thr1563=) rs368010039
NM_001242896.3(DEPDC5):c.4738T>C (p.Cys1580Arg)
NM_001242896.3(DEPDC5):c.4745A>G (p.Asn1582Ser)
NM_001242896.3(DEPDC5):c.4748_4788delinsC (p.Arg1583fs)
NM_001242896.3(DEPDC5):c.4756C>A (p.Arg1586=)
NM_001242896.3(DEPDC5):c.4795C>T (p.His1599Tyr)
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu)
NM_001242896.3(DEPDC5):c.483+1G>A
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)
NM_001242896.3(DEPDC5):c.532A>G (p.Ser178Gly)
NM_001242896.3(DEPDC5):c.562+8_562+9del rs754265066
NM_001242896.3(DEPDC5):c.563-3C>G
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
NM_001242896.3(DEPDC5):c.590_592del (p.Asn197_Gly198delinsSer)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.718G>A (p.Ala240Thr)
NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val) rs201429774
NM_001242896.3(DEPDC5):c.768-2A>G
NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu)
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs)
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter)
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg)
NM_001242896.3(DEPDC5):c.974A>G (p.Asn325Ser)
NM_001242896.3(DEPDC5):c.994A>G (p.Met332Val)
NM_001242897.2(DEPDC5):c.1010C>G (p.Thr337Arg) rs1037878155
NM_001242897.2(DEPDC5):c.1014C>T (p.Pro338=) rs774034064
NM_001242897.2(DEPDC5):c.1081+2T>G rs1601970824
NM_001242897.2(DEPDC5):c.1095T>C (p.Asp365=) rs79070552
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310
NM_001242897.2(DEPDC5):c.1154G>A (p.Arg385Gln) rs368032858
NM_001242897.2(DEPDC5):c.1165C>T (p.Arg389Cys) rs41311139
NM_001242897.2(DEPDC5):c.1166G>A (p.Arg389His) rs768332862
NM_001242897.2(DEPDC5):c.1174C>T (p.Arg392Cys) rs1028964149
NM_001242897.2(DEPDC5):c.1182C>T (p.Gly394=) rs1289456216
NM_001242897.2(DEPDC5):c.1223A>G (p.Tyr408Cys) rs1602010347
NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242897.2(DEPDC5):c.1226C>G (p.Thr409Arg) rs773704927
NM_001242897.2(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr) rs1602010588
NM_001242897.2(DEPDC5):c.1245T>C (p.Phe415=) rs1555880783
NM_001242897.2(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242897.2(DEPDC5):c.1261C>G (p.Pro421Ala) rs764297665
NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242897.2(DEPDC5):c.1269A>G (p.Ile423Met) rs778795541
NM_001242897.2(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242897.2(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242897.2(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843
NM_001242897.2(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859
NM_001242897.2(DEPDC5):c.1325-1G>C rs1555882867
NM_001242897.2(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709
NM_001242897.2(DEPDC5):c.1334G>A (p.Ser445Asn) rs201797550
NM_001242897.2(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1380C>T (p.Asp460=) rs375451146
NM_001242897.2(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131
NM_001242897.2(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981
NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649
NM_001242897.2(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050
NM_001242897.2(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242897.2(DEPDC5):c.1436C>T (p.Thr479Ile) rs1602054541
NM_001242897.2(DEPDC5):c.1446-1G>T rs1555885023
NM_001242897.2(DEPDC5):c.1446-8C>A rs188460159
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.146+5G>A rs748264035
NM_001242897.2(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747
NM_001242897.2(DEPDC5):c.1472G>C (p.Ser491Thr) rs8138516
NM_001242897.2(DEPDC5):c.1509C>T (p.Ser503=) rs376217381
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.1640G>A (p.Ser547Asn) rs1483477312
NM_001242897.2(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.167A>G (p.Lys56Arg) rs966689579
NM_001242897.2(DEPDC5):c.1720A>G (p.Arg574Gly) rs762484005
NM_001242897.2(DEPDC5):c.1729G>A (p.Val577Ile) rs573430885
NM_001242897.2(DEPDC5):c.1758T>C (p.Val586=) rs766732676
NM_001242897.2(DEPDC5):c.1794T>G (p.Ile598Met) rs918653735
NM_001242897.2(DEPDC5):c.1803C>T (p.Phe601=) rs368563183
NM_001242897.2(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242897.2(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242897.2(DEPDC5):c.1870+2316G>A rs751767527
NM_001242897.2(DEPDC5):c.1870+2328C>T rs16989528
NM_001242897.2(DEPDC5):c.1870+2351A>G rs775910110
NM_001242897.2(DEPDC5):c.1870+2387_1870+4243del
NM_001242897.2(DEPDC5):c.1870+2410A>G rs374037144
NM_001242897.2(DEPDC5):c.1870+2415G>A rs752184633
NM_001242897.2(DEPDC5):c.1870+3471C>A rs752274547
NM_001242897.2(DEPDC5):c.1870+3480C>G rs372975881
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.1870+3487C>G rs199603004
NM_001242897.2(DEPDC5):c.1870+3495C>T rs779428450
NM_001242897.2(DEPDC5):c.1870+3506T>A rs373078069
NM_001242897.2(DEPDC5):c.1870+3516C>A rs61731667
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.1870+3533T>C rs201464790
NM_001242897.2(DEPDC5):c.1870+3536C>T rs199783404
NM_001242897.2(DEPDC5):c.1901C>T (p.Ser634Phe) rs16989535
NM_001242897.2(DEPDC5):c.1905A>G (p.Leu635=) rs16989536
NM_001242897.2(DEPDC5):c.1937-10C>T rs746913609
NM_001242897.2(DEPDC5):c.194-5T>C rs752848631
NM_001242897.2(DEPDC5):c.1943C>T (p.Thr648Ile) rs1569059850
NM_001242897.2(DEPDC5):c.2007C>G (p.Leu669=) rs16989537
NM_001242897.2(DEPDC5):c.2016G>A (p.Pro672=) rs758163770
NM_001242897.2(DEPDC5):c.2019G>A (p.Ala673=) rs777616535
NM_001242897.2(DEPDC5):c.204T>C (p.Ser68=) rs774206363
NM_001242897.2(DEPDC5):c.2052C>T (p.Asp684=) rs200465447
NM_001242897.2(DEPDC5):c.2053C>T (p.Arg685Cys) rs745342391
NM_001242897.2(DEPDC5):c.2054G>A (p.Arg685His) rs542384516
NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter) rs374158137
NM_001242897.2(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142
NM_001242897.2(DEPDC5):c.2107G>C (p.Ala703Pro) rs761280493
NM_001242897.2(DEPDC5):c.2116G>A (p.Asp706Asn) rs776885208
NM_001242897.2(DEPDC5):c.2133T>C (p.Asp711=) rs751377415
NM_001242897.2(DEPDC5):c.2143A>G (p.Met715Val) rs370318709
NM_001242897.2(DEPDC5):c.2182C>T (p.Arg728Cys) rs953743301
NM_001242897.2(DEPDC5):c.2188A>G (p.Met730Val) rs1555897260
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2231C>G (p.Pro744Arg) rs746372266
NM_001242897.2(DEPDC5):c.2247G>A (p.Pro749=) rs61731664
NM_001242897.2(DEPDC5):c.2252C>T (p.Pro751Leu) rs370487077
NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) rs773004067
NM_001242897.2(DEPDC5):c.2281+10T>C rs1276307484
NM_001242897.2(DEPDC5):c.2319G>C (p.Gln773His) rs368375649
NM_001242897.2(DEPDC5):c.2326C>G (p.Leu776Val) rs1602350218
NM_001242897.2(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242897.2(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854
NM_001242897.2(DEPDC5):c.2342C>T (p.Thr781Met) rs200744555
NM_001242897.2(DEPDC5):c.2343G>A (p.Thr781=) rs375938114
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2358G>A (p.Thr786=) rs763764167
NM_001242897.2(DEPDC5):c.2386C>T (p.Arg796Ter) rs578185749
NM_001242897.2(DEPDC5):c.2387G>A (p.Arg796Gln) rs1602350746
NM_001242897.2(DEPDC5):c.2427C>A (p.His809Gln) rs1555899801
NM_001242897.2(DEPDC5):c.2438G>C (p.Ser813Thr) rs185576553
NM_001242897.2(DEPDC5):c.2456C>T (p.Ser819Leu) rs371496533
NM_001242897.2(DEPDC5):c.2470G>A (p.Val824Ile) rs374944205
NM_001242897.2(DEPDC5):c.2497G>A (p.Glu833Lys) rs1214608865
NM_001242897.2(DEPDC5):c.2501G>A (p.Arg834Gln) rs781159677
NM_001242897.2(DEPDC5):c.2508G>A (p.Glu836=) rs118001924
NM_001242897.2(DEPDC5):c.252T>C (p.Asp84=) rs183443533
NM_001242897.2(DEPDC5):c.2550C>T (p.Ala850=) rs201146392
NM_001242897.2(DEPDC5):c.2567+8A>G rs370009456
NM_001242897.2(DEPDC5):c.2589C>G (p.Phe863Leu) rs1555900811
NM_001242897.2(DEPDC5):c.2622T>C (p.Cys874=) rs115299174
NM_001242897.2(DEPDC5):c.2628C>T (p.Thr876=) rs1027803497
NM_001242897.2(DEPDC5):c.2629G>A (p.Ala877Thr) rs538998618
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.2650G>T (p.Gly884Trp) rs756338392
NM_001242897.2(DEPDC5):c.2656G>A (p.Ala886Thr) rs780008727
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.2703G>C (p.Glu901Asp) rs1602368020
NM_001242897.2(DEPDC5):c.2739G>A (p.Glu913=) rs370906184
NM_001242897.2(DEPDC5):c.2755C>T (p.Arg919Cys) rs1555900981
NM_001242897.2(DEPDC5):c.2761C>T (p.Arg921Trp) rs375050296
NM_001242897.2(DEPDC5):c.2762G>A (p.Arg921Gln) rs201245740
NM_001242897.2(DEPDC5):c.2772G>A (p.Ser924=) rs373751704
NM_001242897.2(DEPDC5):c.2777G>A (p.Arg926His) rs754059546
NM_001242897.2(DEPDC5):c.2779A>G (p.Met927Val) rs367860294
NM_001242897.2(DEPDC5):c.2780T>A (p.Met927Lys) rs778753730
NM_001242897.2(DEPDC5):c.2787G>T (p.Arg929=) rs201690337
NM_001242897.2(DEPDC5):c.279+3A>G rs1211730596
NM_001242897.2(DEPDC5):c.280-1G>A rs1556526609
NM_001242897.2(DEPDC5):c.2820T>C (p.Thr940=) rs372062387
NM_001242897.2(DEPDC5):c.2823G>A (p.Gly941=) rs1060504242
NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) rs537257402
NM_001242897.2(DEPDC5):c.2858C>A (p.Pro953His) rs376744360
NM_001242897.2(DEPDC5):c.2862A>G (p.Pro954=) rs756207564
NM_001242897.2(DEPDC5):c.2889C>T (p.Leu963=) rs1555901654
NM_001242897.2(DEPDC5):c.28G>A (p.Val10Ile) rs375027042
NM_001242897.2(DEPDC5):c.2921A>G (p.Lys974Arg) rs200277794
NM_001242897.2(DEPDC5):c.2935C>G (p.Gln979Glu) rs1602471069
NM_001242897.2(DEPDC5):c.2943A>G (p.Ala981=) rs776608344
NM_001242897.2(DEPDC5):c.2960A>G (p.Lys987Arg) rs757609394
NM_001242897.2(DEPDC5):c.2967C>T (p.Ser989=) rs775749832
NM_001242897.2(DEPDC5):c.2972A>C (p.Gln991Pro) rs761678944
NM_001242897.2(DEPDC5):c.2978C>T (p.Ala993Val) rs750296306
NM_001242897.2(DEPDC5):c.2982G>C (p.Glu994Asp) rs753608617
NM_001242897.2(DEPDC5):c.2983A>C (p.Ser995Arg) rs754608531
NM_001242897.2(DEPDC5):c.2984G>A (p.Ser995Asn) rs375884815
NM_001242897.2(DEPDC5):c.2991C>T (p.Ser997=) rs757534228
NM_001242897.2(DEPDC5):c.3001A>G (p.Thr1001Ala) rs878854278
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3013A>C (p.Met1005Leu) rs768817912
NM_001242897.2(DEPDC5):c.3022C>T (p.Pro1008Ser) rs914056153
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3030+3822C>T rs772812141
NM_001242897.2(DEPDC5):c.3030+3843G>A rs1185705971
NM_001242897.2(DEPDC5):c.3030+3855C>T rs528786894
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001242897.2(DEPDC5):c.3030+3862G>A rs759169213
NM_001242897.2(DEPDC5):c.3030+3865C>T rs371969641
NM_001242897.2(DEPDC5):c.3031-10del rs377356885
NM_001242897.2(DEPDC5):c.3058A>G (p.Met1020Val) rs61731662
NM_001242897.2(DEPDC5):c.3066C>T (p.Asp1022=) rs375702574
NM_001242897.2(DEPDC5):c.3137A>G (p.Gln1046Arg) rs1555913525
NM_001242897.2(DEPDC5):c.3161C>T (p.Ser1054Phe) rs578244490
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.3215C>A (p.Thr1072Asn) rs865860087
NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs) rs1569166925
NM_001242897.2(DEPDC5):c.3263+1G>A rs1261611694
NM_001242897.2(DEPDC5):c.3263+1G>C rs1261611694
NM_001242897.2(DEPDC5):c.3263C>T (p.Ser1088Leu) rs376487148
NM_001242897.2(DEPDC5):c.3267A>G (p.Thr1089=) rs142197878
NM_001242897.2(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242897.2(DEPDC5):c.3343G>A (p.Val1115Met) rs201603222
NM_001242897.2(DEPDC5):c.3359G>A (p.Gly1120Glu) rs374871448
NM_001242897.2(DEPDC5):c.3383T>C (p.Ile1128Thr) rs200653339
NM_001242897.2(DEPDC5):c.3396+10C>A rs755463750
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3498C>T (p.Pro1166=) rs376187025
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3505+10G>A rs201608608
NM_001242897.2(DEPDC5):c.3506-8T>C rs1555919097
NM_001242897.2(DEPDC5):c.3510C>T (p.Ala1170=) rs200033252
NM_001242897.2(DEPDC5):c.3533G>T (p.Trp1178Leu) rs1569185783
NM_001242897.2(DEPDC5):c.3536A>G (p.His1179Arg) rs201765981
NM_001242897.2(DEPDC5):c.3537C>T (p.His1179=) rs370472498
NM_001242897.2(DEPDC5):c.3546A>G (p.Gly1182=) rs771875089
NM_001242897.2(DEPDC5):c.3552C>A (p.Asp1184Glu) rs773340826
NM_001242897.2(DEPDC5):c.3558C>T (p.Phe1186=) rs192246855
NM_001242897.2(DEPDC5):c.3559G>T (p.Ala1187Ser) rs867268278
NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter) rs1569186093
NM_001242897.2(DEPDC5):c.3571C>T (p.Arg1191Cys) rs202227830
NM_001242897.2(DEPDC5):c.3575A>C (p.Lys1192Thr) rs1602677961
NM_001242897.2(DEPDC5):c.3576G>C (p.Lys1192Asn) rs1602677998
NM_001242897.2(DEPDC5):c.3586G>T (p.Val1196Leu) rs1569186162
NM_001242897.2(DEPDC5):c.363+6A>G rs933571182
NM_001242897.2(DEPDC5):c.363+6_363+7del rs748242785
NM_001242897.2(DEPDC5):c.364-10C>T rs116263417
NM_001242897.2(DEPDC5):c.3648G>A (p.Leu1216=) rs371864100
NM_001242897.2(DEPDC5):c.3652A>C (p.Ser1218Arg) rs1602678715
NM_001242897.2(DEPDC5):c.3694C>T (p.Arg1232Ter) rs886039269
NM_001242897.2(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242897.2(DEPDC5):c.3777C>T (p.Asp1259=) rs573674033
NM_001242897.2(DEPDC5):c.3808T>A (p.Cys1270Ser) rs771269120
NM_001242897.2(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336
NM_001242897.2(DEPDC5):c.3824A>G (p.His1275Arg) rs1260083367
NM_001242897.2(DEPDC5):c.3826G>A (p.Gly1276Ser) rs1555929990
NM_001242897.2(DEPDC5):c.3836C>A (p.Ser1279Tyr) rs765244692
NM_001242897.2(DEPDC5):c.3856A>C (p.Ile1286Leu) rs1555930038
NM_001242897.2(DEPDC5):c.3875C>T (p.Ala1292Val) rs1420107846
NM_001242897.2(DEPDC5):c.3883G>A (p.Ala1295Thr) rs764462476
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter) rs1602903591
NM_001242897.2(DEPDC5):c.4006C>T (p.Arg1336Cys) rs778323702
NM_001242897.2(DEPDC5):c.4007G>A (p.Arg1336His) rs948206788
NM_001242897.2(DEPDC5):c.4054G>A (p.Gly1352Ser) rs1452980660
NM_001242897.2(DEPDC5):c.4086C>T (p.Pro1362=) rs754105028
NM_001242897.2(DEPDC5):c.4091C>T (p.Thr1364Met) rs556147064
NM_001242897.2(DEPDC5):c.4092G>A (p.Thr1364=) rs756506370
NM_001242897.2(DEPDC5):c.4108C>T (p.His1370Tyr) rs1064795311
NM_001242897.2(DEPDC5):c.4137G>A (p.Arg1379=) rs1057522689
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter) rs1603014708
NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) rs1569254004
NM_001242897.2(DEPDC5):c.4212C>T (p.His1404=) rs146449468
NM_001242897.2(DEPDC5):c.4220-2A>G rs1555942859
NM_001242897.2(DEPDC5):c.4242C>T (p.Pro1414=) rs368918488
NM_001242897.2(DEPDC5):c.4271A>G (p.Gln1424Arg) rs377585542
NM_001242897.2(DEPDC5):c.4280G>A (p.Arg1427Gln) rs200552561
NM_001242897.2(DEPDC5):c.4294A>G (p.Ser1432Gly) rs752046892
NM_001242897.2(DEPDC5):c.4320C>T (p.Cys1440=) rs756290564
NM_001242897.2(DEPDC5):c.4330del (p.Val1444fs) rs1569255443
NM_001242897.2(DEPDC5):c.4347C>G (p.Ala1449=) rs1555943168
NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242897.2(DEPDC5):c.4383C>T (p.Ser1461=) rs370189053
NM_001242897.2(DEPDC5):c.4392_4393delinsTTT (p.Asp1465fs) rs1569255986
NM_001242897.2(DEPDC5):c.4427T>G (p.Phe1476Cys) rs1025857773
NM_001242897.2(DEPDC5):c.4433A>G (p.Asp1478Gly) rs201347461
NM_001242897.2(DEPDC5):c.4439G>A (p.Cys1480Tyr) rs776213050
NM_001242897.2(DEPDC5):c.4447C>T (p.Arg1483Cys) rs759170497
NM_001242897.2(DEPDC5):c.4456C>T (p.Arg1486Trp) rs768925194
NM_001242897.2(DEPDC5):c.4459C>T (p.Leu1487=) rs1569256444
NM_001242897.2(DEPDC5):c.4478G>T (p.Ser1493Ile) rs1603019516
NM_001242897.2(DEPDC5):c.4479T>A (p.Ser1493Arg) rs750919199
NM_001242897.2(DEPDC5):c.4500C>T (p.Ala1500=) rs754017226
NM_001242897.2(DEPDC5):c.4509G>A (p.Pro1503=) rs201307299
NM_001242897.2(DEPDC5):c.453C>T (p.Val151=) rs558913954
NM_001242897.2(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503
NM_001242897.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242897.2(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242897.2(DEPDC5):c.562+1G>A rs1057524233
NM_001242897.2(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773
NM_001242897.2(DEPDC5):c.602C>A (p.Ala201Asp) rs1569519698
NM_001242897.2(DEPDC5):c.624+1G>A rs886039252
NM_001242897.2(DEPDC5):c.633C>T (p.Asn211=) rs771270766
NM_001242897.2(DEPDC5):c.694+1G>A rs1601875057
NM_001242897.2(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242897.2(DEPDC5):c.694+5G>A rs1060501485
NM_001242897.2(DEPDC5):c.711A>C (p.Ile237=) rs368571578
NM_001242897.2(DEPDC5):c.71T>G (p.Val24Gly) rs572660873
NM_001242897.2(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242897.2(DEPDC5):c.763T>C (p.Tyr255His) rs372371916
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs) rs1601925213
NM_001242897.2(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533
NM_001242897.2(DEPDC5):c.813C>T (p.Leu271=) rs200547310
NM_001242897.2(DEPDC5):c.814G>A (p.Val272Ile) rs187334123
NM_001242897.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242897.2(DEPDC5):c.871+1G>T rs1556607762
NM_001242897.2(DEPDC5):c.871+9T>C rs373471598
NM_001242897.2(DEPDC5):c.879T>C (p.Phe293=) rs1335286901
NM_001242897.2(DEPDC5):c.885A>G (p.Gln295=) rs16989495
NM_001242897.2(DEPDC5):c.90C>G (p.Phe30Leu) rs374794334
NM_001242897.2(DEPDC5):c.944A>G (p.Asn315Ser) rs555944888
NM_001242897.2(DEPDC5):c.946+10G>C rs367917127
NM_001242897.2(DEPDC5):c.953A>G (p.Asp318Gly) rs1064795102
NM_001242897.2(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.1103-2del
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val)
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr)
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His)
NM_001371596.2(MFSD8):c.199-1G>C
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr)
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu)
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser)
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser)
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val)
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr)
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser)
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu)
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)
NM_001371596.2(MFSD8):c.63-652_74del
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.699-1G>C
NM_001371596.2(MFSD8):c.754+1G>A
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser)
NM_001371596.2(MFSD8):c.755-6C>T rs752118814
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala)
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val)
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.863+1G>T
NM_001371596.2(MFSD8):c.864-6del rs200526922
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro)
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile)
NM_001492.6(GDF1):c.-1017C>T rs779359438
NM_001492.6(GDF1):c.-1030A>G
NM_001492.6(GDF1):c.-1034G>A
NM_001492.6(GDF1):c.-1065G>A rs1038592004
NM_001492.6(GDF1):c.-1066C>T rs374895377
NM_001492.6(GDF1):c.-1073C>A rs755371379
NM_001492.6(GDF1):c.-1079T>C rs977068016
NM_001492.6(GDF1):c.-1101C>G rs1601197228
NM_001492.6(GDF1):c.-1104_-1103insGGCTGGACCGCGCTG
NM_001492.6(GDF1):c.-1142C>A rs1330389032
NM_001492.6(GDF1):c.-1145C>G
NM_001492.6(GDF1):c.-1146G>C
NM_001492.6(GDF1):c.-1149C>G rs992534143
NM_001492.6(GDF1):c.-1159T>A rs918114133
NM_001492.6(GDF1):c.-1228C>T
NM_001492.6(GDF1):c.-1257A>G rs1185015299
NM_001492.6(GDF1):c.-1273C>T
NM_001492.6(GDF1):c.-1286C>T rs868136098
NM_001492.6(GDF1):c.-1300C>G rs1568309719
NM_001492.6(GDF1):c.-1307C>A rs1041161328
NM_001492.6(GDF1):c.-1318_-1316CGG[4] rs996708246
NM_001492.6(GDF1):c.-305C>G rs774114834
NM_001492.6(GDF1):c.-312-2A>G rs771873576