ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2746
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_40074041)_(40097258_?)dup
NC_000004.12:g.(?_127883262)_(128210053_?)dup
NC_000004.12:g.(?_127930683)_(127965208_?)dup
NC_000004.12:g.(?_76161693)_(76181121_?)dup
NC_000004.12:g.(?_76195687)_(76213563_?)dup
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000007.14:g.(?_66633255)_(66633464_?)dup
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000007.14:g.(?_66638233)_(66640414_?)dup
NC_000007.14:g.(?_66638253)_(66643229_?)dup
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771035)_(1780587_?)dup
NC_000008.11:g.(?_27469335)_(27471194_?)del
NC_000009.12:g.(?_135759650)_(135759879_?)dup
NC_000009.12:g.(?_135775290)_(135788182_?)del
NC_000012.12:g.(?_42459789)_(42472536_?)dup
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_10179978)_(10180431_?)dup
NC_000016.10:g.(?_117281)_(138287_?)dup
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_28475343)_(28491779_?)dup
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.(?_28488571)_(28491779_?)dup
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000020.10:g.(?_61977556)_(62065276_?)del
NC_000020.11:g.(?_63928326)_(63931588_?)dup
NC_000020.11:g.(?_63928335)_(63936031_?)dup
NC_000021.8:g.(?_43892908)_(45629566_?)dup
NC_000021.9:g.(?_43774182)_(43776289_?)dup
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NC_000022.11:g.(?_31754902)_(31754999_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.(?_31857425)_(31906517_?)dup
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.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.175G>A (p.Val59Ile)
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys)
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1Asnfs) rs1044894207
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu)
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys)
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)
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter)
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000310.3(PPT1):c.124+10_124+13delTGAG 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.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.175delG (p.Glu59Argfs) rs386833635
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.282A>G (p.Thr94=)
NM_000310.3(PPT1):c.283G>A (p.Val95Met)
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.426A>G (p.Gln142=)
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.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+5G>T
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr)
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys)
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His)
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+9C>T rs368895182
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg)
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.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
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.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_000391.3(TPP1):c.1009A>C (p.Ile337Leu)
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.3(TPP1):c.1123C>T (p.Arg375Cys)
NM_000391.3(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.3(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.3(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.3(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.3(TPP1):c.1208T>C (p.Ile403Thr)
NM_000391.3(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020
NM_000391.3(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.3(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.3(TPP1):c.1252C>T (p.Arg418Trp)
NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1266+8T>C rs752269166
NM_000391.3(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.3(TPP1):c.127C>G (p.Pro43Ala) rs1314595290
NM_000391.3(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.3(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.3(TPP1):c.1307T>C (p.Leu436Pro) rs150039898
NM_000391.3(TPP1):c.1328A>G (p.Asn443Ser) rs139343938
NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.3(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.3(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.3(TPP1):c.1426-10A>G rs200965587
NM_000391.3(TPP1):c.1426-10A>T rs200965587
NM_000391.3(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.3(TPP1):c.1451T>C (p.Ile484Thr) rs748533410
NM_000391.3(TPP1):c.1466A>G (p.Asn489Ser) rs751645191
NM_000391.3(TPP1):c.1489C>T (p.Arg497Cys) rs377700188
NM_000391.3(TPP1):c.1490G>A (p.Arg497His) rs549928656
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.3(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.3(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.3(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.3(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.3(TPP1):c.1613C>G (p.Ser538Cys)
NM_000391.3(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.3(TPP1):c.18-10G>T rs778206032
NM_000391.3(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.3(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.3(TPP1):c.219T>C (p.Ser73=) rs1456089848
NM_000391.3(TPP1):c.229+8T>C rs1263525920
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.3(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.3(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000391.3(TPP1):c.381-4C>G rs529421892
NM_000391.3(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.3(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.3(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.3(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.3(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.3(TPP1):c.665A>C (p.Asn222Thr)
NM_000391.3(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.3(TPP1):c.687+6C>T rs768924191
NM_000391.3(TPP1):c.688-4A>G rs370683758
NM_000391.3(TPP1):c.688-7T>A rs375262484
NM_000391.3(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.3(TPP1):c.734G>A (p.Arg245His)
NM_000391.3(TPP1):c.772G>T (p.Ala258Ser)
NM_000391.3(TPP1):c.775C>T (p.Arg259Cys)
NM_000391.3(TPP1):c.78C>A (p.Asp26Glu) rs760252179
NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.3(TPP1):c.797G>A (p.Arg266Gln) rs757953998
NM_000391.3(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.3(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.3(TPP1):c.812T>C (p.Ile271Thr)
NM_000391.3(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.3(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.3(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.3(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.3(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.3(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000742.3(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128
NM_000742.3(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.3(CHRNA2):c.1052A>G (p.Asn351Ser)
NM_000742.3(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575
NM_000742.3(CHRNA2):c.107C>T (p.Ala36Val) rs1313467019
NM_000742.3(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392
NM_000742.3(CHRNA2):c.1117T>C (p.Cys373Arg) rs137965290
NM_000742.3(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926
NM_000742.3(CHRNA2):c.1158C>T (p.Pro386=) rs560790452
NM_000742.3(CHRNA2):c.1176C>T (p.Pro392=) rs764346961
NM_000742.3(CHRNA2):c.1180C>T (p.Arg394Cys) rs1060503072
NM_000742.3(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307
NM_000742.3(CHRNA2):c.1223T>C (p.Val408Ala) rs747909980
NM_000742.3(CHRNA2):c.1248G>C (p.Val416=) rs370878600
NM_000742.3(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.3(CHRNA2):c.1372G>A (p.Gly458Ser)
NM_000742.3(CHRNA2):c.1378C>A (p.Leu460Met)
NM_000742.3(CHRNA2):c.1378C>T (p.Leu460=) rs765948265
NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.3(CHRNA2):c.1432G>A (p.Asp478Asn)
NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.3(CHRNA2):c.1464+7_1464+8delTG rs763426344
NM_000742.3(CHRNA2):c.1464G>A (p.Ser488=) rs796052305
NM_000742.3(CHRNA2):c.1465-2A>G
NM_000742.3(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.3(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739
NM_000742.3(CHRNA2):c.1528A>G (p.Ile510Val)
NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.3(CHRNA2):c.1531G>A (p.Val511Ile)
NM_000742.3(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.3(CHRNA2):c.1569G>A (p.Pro523=) rs199993564
NM_000742.3(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.3(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.3(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156
NM_000742.3(CHRNA2):c.196C>G (p.Leu66Val) rs1473197891
NM_000742.3(CHRNA2):c.203G>A (p.Arg68Gln) rs548268816
NM_000742.3(CHRNA2):c.210C>T (p.Tyr70=) rs144316375
NM_000742.3(CHRNA2):c.214C>T (p.Arg72Cys) rs201890355
NM_000742.3(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.3(CHRNA2):c.225C>A (p.Arg75=) rs371737919
NM_000742.3(CHRNA2):c.295-16_295-7dup rs776047724
NM_000742.3(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840
NM_000742.3(CHRNA2):c.324C>T (p.Asn108=) rs544939077
NM_000742.3(CHRNA2):c.347G>T (p.Ser116Ile) rs541282922
NM_000742.3(CHRNA2):c.354C>T (p.Tyr118=) rs778279138
NM_000742.3(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.3(CHRNA2):c.447_449delCAA (p.Asn150del) rs758217117
NM_000742.3(CHRNA2):c.449+3A>T rs750588205
NM_000742.3(CHRNA2):c.45C>T (p.Ser15=) rs149934219
NM_000742.3(CHRNA2):c.485_491delAGGCCCA (p.Lys162Thrfs)
NM_000742.3(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.3(CHRNA2):c.670G>A (p.Asp224Asn) rs781326114
NM_000742.3(CHRNA2):c.684C>T (p.Ser228=) rs143536618
NM_000742.3(CHRNA2):c.695C>A (p.Ala232Asp) rs933808461
NM_000742.3(CHRNA2):c.701T>C (p.Val234Ala) rs768590131
NM_000742.3(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483
NM_000742.3(CHRNA2):c.723C>T (p.Asn241=) rs1060504822
NM_000742.3(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.3(CHRNA2):c.735C>T (p.Tyr245=) rs775595773
NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.3(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.3(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.3(CHRNA2):c.790C>T (p.Leu264=) rs746292157
NM_000742.3(CHRNA2):c.799T>A (p.Phe267Ile) rs1554514530
NM_000742.3(CHRNA2):c.810C>G (p.Ile270Met) rs892421066
NM_000742.3(CHRNA2):c.852G>A (p.Val284=) rs1357751027
NM_000742.3(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.3(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000742.3(CHRNA2):c.929T>G (p.Phe310Cys)
NM_000742.3(CHRNA2):c.966G>A (p.Ser322=) rs140118184
NM_000742.3(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000742.3(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471
NM_000742.3(CHRNA2):c.987C>T (p.Gly329=) rs147530139
NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1033C>T (p.Arg345Cys) rs142260793
NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.6(CHRNA4):c.1053C>T (p.Ile351=) rs61737042
NM_000744.6(CHRNA4):c.1057C>A (p.Pro353Thr) rs201052218
NM_000744.6(CHRNA4):c.105C>T (p.His35=) rs199541666
NM_000744.6(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439
NM_000744.6(CHRNA4):c.1075A>T (p.Lys359Ter) rs1555837732
NM_000744.6(CHRNA4):c.1083G>A (p.Pro361=) rs202140852
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.6(CHRNA4):c.1104C>T (p.Cys368=) rs202166947
NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.6(CHRNA4):c.1148G>A (p.Arg383His) rs762374374
NM_000744.6(CHRNA4):c.1158C>G (p.Pro386=) rs45564639
NM_000744.6(CHRNA4):c.1160A>G (p.Glu387Gly) rs45604738
NM_000744.6(CHRNA4):c.1178dup (p.Ala394Cysfs) rs1435638963
NM_000744.6(CHRNA4):c.1196A>G (p.Gln399Arg) rs781131183
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1214C>T (p.Ser405Leu)
NM_000744.6(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.6(CHRNA4):c.1227_1228invTG (p.Val410Ile)
NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.6(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273
NM_000744.6(CHRNA4):c.1266C>T (p.Cys422=) rs121912274
NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.6(CHRNA4):c.1300C>A (p.Pro434Thr)
NM_000744.6(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318
NM_000744.6(CHRNA4):c.1327C>G (p.His443Asp) rs796052319
NM_000744.6(CHRNA4):c.132C>T (p.Leu44=) rs1555840462
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.6(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1369G>C (p.Ala457Pro)
NM_000744.6(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277
NM_000744.6(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.6(CHRNA4):c.1385A>C (p.Lys462Thr)
NM_000744.6(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.6(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1417A>G (p.Ser473Gly) rs1555837484
NM_000744.6(CHRNA4):c.1420C>T (p.Pro474Ser) rs773450609
NM_000744.6(CHRNA4):c.1425C>T (p.Gly475=) rs121912279
NM_000744.6(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948
NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.6(CHRNA4):c.1459C>T (p.Arg487Trp) rs200200279
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1484G>C (p.Arg495Pro) rs549863396
NM_000744.6(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658
NM_000744.6(CHRNA4):c.1520C>T (p.Ala507Val) rs747883053
NM_000744.6(CHRNA4):c.1522G>A (p.Gly508Ser)
NM_000744.6(CHRNA4):c.1524C>T (p.Gly508=) rs56069517
NM_000744.6(CHRNA4):c.1527C>T (p.Ala509=) rs758693290
NM_000744.6(CHRNA4):c.1535C>G (p.Ser512Cys)
NM_000744.6(CHRNA4):c.1537C>T (p.Arg513Cys)
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132
NM_000744.6(CHRNA4):c.1576C>T (p.Pro526Ser) rs1064795533
NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.6(CHRNA4):c.1609C>T (p.Pro537Ser) rs758895760
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1658C>T (p.Ala553Val) rs762808071
NM_000744.6(CHRNA4):c.1661C>T (p.Pro554Leu) rs56000199
NM_000744.6(CHRNA4):c.1662G>A (p.Pro554=) rs121912284
NM_000744.6(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.6(CHRNA4):c.1667C>T (p.Pro556Leu) rs77345643
NM_000744.6(CHRNA4):c.1670A>C (p.His557Pro) rs1282336623
NM_000744.6(CHRNA4):c.1697G>A (p.Arg566Gln) rs200810080
NM_000744.6(CHRNA4):c.1700C>G (p.Ala567Gly) rs76895198
NM_000744.6(CHRNA4):c.1700C>T (p.Ala567Val) rs76895198
NM_000744.6(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.6(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453
NM_000744.6(CHRNA4):c.1721T>C (p.Ile574Thr)
NM_000744.6(CHRNA4):c.1726G>A (p.Asp576Asn) rs537904499
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.1748_1749delCA (p.Thr583Argfs)
NM_000744.6(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872
NM_000744.6(CHRNA4):c.1758+11C>T rs45442394
NM_000744.6(CHRNA4):c.176C>T (p.Ser59Leu)
NM_000744.6(CHRNA4):c.177G>A (p.Ser59=) rs138295365
NM_000744.6(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890
NM_000744.6(CHRNA4):c.180C>G (p.Asp60Glu) rs112051150
NM_000744.6(CHRNA4):c.181G>T (p.Val61Leu) rs150451372
NM_000744.6(CHRNA4):c.1825G>A (p.Val609Ile) rs201168195
NM_000744.6(CHRNA4):c.1854C>G (p.Phe618Leu)
NM_000744.6(CHRNA4):c.1860G>A (p.Pro620=) rs202203317
NM_000744.6(CHRNA4):c.1867C>T (p.Leu623=) rs878854142
NM_000744.6(CHRNA4):c.193C>T (p.Arg65Cys) rs748440038
NM_000744.6(CHRNA4):c.211G>A (p.Ala71Thr) rs200527878
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.229-10G>A
NM_000744.6(CHRNA4):c.229G>A (p.Asp77Asn)
NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.6(CHRNA4):c.254C>T (p.Thr85Met) rs199699339
NM_000744.6(CHRNA4):c.258C>T (p.Asn86=) rs140239470
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_000744.6(CHRNA4):c.29_43dup (p.Pro14_Leu15insArgLeuLeuProPro)
NM_000744.6(CHRNA4):c.345C>T (p.Ser115=) rs201033859
NM_000744.6(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516
NM_000744.6(CHRNA4):c.362C>T (p.Pro121Leu)
NM_000744.6(CHRNA4):c.372C>T (p.Val124=) rs201386851
NM_000744.6(CHRNA4):c.373C>T (p.Leu125Phe)
NM_000744.6(CHRNA4):c.384-9C>T rs199992800
NM_000744.6(CHRNA4):c.38_52dup (p.Leu17_Leu18insProProLeuLeuLeu) rs771936944
NM_000744.6(CHRNA4):c.413T>A (p.Leu138Gln)
NM_000744.6(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.6(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243
NM_000744.6(CHRNA4):c.461C>T (p.Pro154Leu) rs121912244
NM_000744.6(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000744.6(CHRNA4):c.493G>A (p.Val165Ile) rs762764855
NM_000744.6(CHRNA4):c.537C>T (p.Phe179=) rs747499031
NM_000744.6(CHRNA4):c.640G>A (p.Ala214Thr)
NM_000744.6(CHRNA4):c.678_679invTG (p.Ala227Thr)
NM_000744.6(CHRNA4):c.683A>T (p.Glu228Val)
NM_000744.6(CHRNA4):c.712G>A (p.Val238Ile)
NM_000744.6(CHRNA4):c.727C>A (p.Pro243Thr)
NM_000744.6(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.6(CHRNA4):c.77-10C>T rs200490160
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.6(CHRNA4):c.777C>T (p.Cys259=) rs1555837947
NM_000744.6(CHRNA4):c.77C>T (p.Ala26Val)
NM_000744.6(CHRNA4):c.828G>A (p.Thr276=) rs2234932
NM_000744.6(CHRNA4):c.839C>G (p.Ser280Cys)
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.6(CHRNA4):c.879C>T (p.Thr293=) rs371527699
NM_000744.6(CHRNA4):c.880G>A (p.Glu294Lys) rs201654194
NM_000744.6(CHRNA4):c.900A>G (p.Ser300=) rs878854143
NM_000744.6(CHRNA4):c.912A>G (p.Pro304=) rs1041716120
NM_000744.6(CHRNA4):c.948C>T (p.Phe316=) rs121912259
NM_000744.6(CHRNA4):c.961A>G (p.Ile321Val) rs375340441
NM_000744.6(CHRNA4):c.964G>A (p.Val322Ile) rs779790555
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.6(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.2(CHRNB2):c.1034C>T (p.Ala345Val)
NM_000748.2(CHRNB2):c.105T>A (p.His35Gln) rs141689121
NM_000748.2(CHRNB2):c.106C>T (p.Leu36Phe)
NM_000748.2(CHRNB2):c.1080C>A (p.Arg360=) rs1180459670
NM_000748.2(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.2(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.2(CHRNB2):c.1157C>G (p.Ser386Cys)
NM_000748.2(CHRNB2):c.1161C>A (p.Cys387Ter)
NM_000748.2(CHRNB2):c.1180G>A (p.Ala394Thr)
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274
NM_000748.2(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.2(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.2(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.2(CHRNB2):c.1319G>A (p.Ser440Asn)
NM_000748.2(CHRNB2):c.1335G>C (p.Gln445His)
NM_000748.2(CHRNB2):c.1338+3G>T rs886348487
NM_000748.2(CHRNB2):c.1339-6A>T rs200177119
NM_000748.2(CHRNB2):c.1372A>G (p.Ile458Val)
NM_000748.2(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.2(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.2(CHRNB2):c.1381C>T (p.Leu461Phe)
NM_000748.2(CHRNB2):c.1407C>G (p.Val469=) rs138886952
NM_000748.2(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.2(CHRNB2):c.1482A>G (p.Ser494=) rs8192486
NM_000748.2(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.2(CHRNB2):c.150C>T (p.Thr50=) rs149921259
NM_000748.2(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.2(CHRNB2):c.201C>T (p.Leu67=) rs773706734
NM_000748.2(CHRNB2):c.210+9A>G rs3926124
NM_000748.2(CHRNB2):c.255+6C>T
NM_000748.2(CHRNB2):c.255+7G>C rs190374968
NM_000748.2(CHRNB2):c.272G>A (p.Arg91His) rs144508607
NM_000748.2(CHRNB2):c.363_365delCAA (p.Asn122del) rs796052329
NM_000748.2(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.2(CHRNB2):c.441G>A (p.Pro147=) rs780464481
NM_000748.2(CHRNB2):c.448A>G (p.Ile150Val)
NM_000748.2(CHRNB2):c.483C>T (p.His161=) rs190967991
NM_000748.2(CHRNB2):c.539G>A (p.Arg180His)
NM_000748.2(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.2(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234
NM_000748.2(CHRNB2):c.708C>T (p.Phe236=) rs71628622
NM_000748.2(CHRNB2):c.734delG (p.Cys245Leufs) rs780184576
NM_000748.2(CHRNB2):c.772C>T (p.Leu258=) rs201514209
NM_000748.2(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000748.2(CHRNB2):c.780C>T (p.Ser260=) rs369234693
NM_000748.2(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452
NM_000748.2(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.2(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.2(CHRNB2):c.892G>A (p.Gly298Ser)
NM_000748.2(CHRNB2):c.968A>G (p.His323Arg)
NM_000748.2(CHRNB2):c.991A>G (p.Met331Val) rs1207496178
NM_000806.5(GABRA1):c.1020A>C (p.Arg340Ser)
NM_000806.5(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_000806.5(GABRA1):c.1104C>T (p.Tyr368=) rs771832995
NM_000806.5(GABRA1):c.1108C>A (p.Pro370Thr)
NM_000806.5(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_000806.5(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_000806.5(GABRA1):c.1284G>A (p.Pro428=) rs74873701
NM_000806.5(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_000806.5(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_000806.5(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_000806.5(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_000806.5(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_000806.5(GABRA1):c.216C>T (p.Ile72=) rs200716712
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.477-5T>C rs779231183
NM_000806.5(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_000806.5(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_000806.5(GABRA1):c.498T>G (p.Cys166Trp)
NM_000806.5(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_000806.5(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_000806.5(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_000806.5(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_000806.5(GABRA1):c.756C>T (p.Tyr252=) rs775895535
NM_000806.5(GABRA1):c.75C>T (p.Ser25=)
NM_000806.5(GABRA1):c.787A>T (p.Met263Leu)
NM_000806.5(GABRA1):c.831G>A (p.Glu277=) rs764666718
NM_000806.5(GABRA1):c.856+8C>T rs1554087151
NM_000806.5(GABRA1):c.857-8C>T rs752572964
NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_000806.5(GABRA1):c.869_888delTGCTCACCATGACAACATTG (p.Val290Glufs)
NM_000806.5(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_000806.5(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_000833.4(GRIN2A):c.1007+1G>A rs397518465
NM_000833.4(GRIN2A):c.1008-9C>G rs111844068
NM_000833.4(GRIN2A):c.1030G>C (p.Asp344His)
NM_000833.4(GRIN2A):c.1057G>A (p.Glu353Lys)
NM_000833.4(GRIN2A):c.1170G>T (p.Trp390Cys) rs1555496181
NM_000833.4(GRIN2A):c.1224C>T (p.Ile408=) rs776264780
NM_000833.4(GRIN2A):c.1249G>A (p.Val417Ile) rs749504561
NM_000833.4(GRIN2A):c.1251C>A (p.Val417=) rs139329447
NM_000833.4(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_000833.4(GRIN2A):c.1323A>C (p.Lys441Asn)
NM_000833.4(GRIN2A):c.1329-8C>T rs7193290
NM_000833.4(GRIN2A):c.1329-9T>G rs541442732
NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_000833.4(GRIN2A):c.1380C>T (p.Cys460=) rs375291296
NM_000833.4(GRIN2A):c.1382T>A (p.Ile461Asn)
NM_000833.4(GRIN2A):c.1458C>A (p.Gly486=) rs144572467
NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_000833.4(GRIN2A):c.1553G>T (p.Arg518Leu)
NM_000833.4(GRIN2A):c.1629C>T (p.Thr543=) rs758378272
NM_000833.4(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_000833.4(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_000833.4(GRIN2A):c.1777+6G>T rs76549675
NM_000833.4(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140
NM_000833.4(GRIN2A):c.179C>T (p.Ala60Val)
NM_000833.4(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_000833.4(GRIN2A):c.2007+10C>T rs368110989
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_000833.4(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542
NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_000833.4(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_000833.4(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_000833.4(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_000833.4(GRIN2A):c.2325C>T (p.Ile775=) rs748291723
NM_000833.4(GRIN2A):c.2346_2356+8delTGTGGGTGATGGTAAGACC rs1064795143
NM_000833.4(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_000833.4(GRIN2A):c.2445C>A (p.Asp815Glu)
NM_000833.4(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_000833.4(GRIN2A):c.2505C>T (p.Phe835=) rs771342023
NM_000833.4(GRIN2A):c.2549C>T (p.Thr850Met) rs1060503230
NM_000833.4(GRIN2A):c.2563G>A (p.Asp855Asn) rs796052564
NM_000833.4(GRIN2A):c.258G>A (p.Val86=) rs774606054
NM_000833.4(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_000833.4(GRIN2A):c.2674A>G (p.Ser892Gly) rs1060503229
NM_000833.4(GRIN2A):c.2695C>T (p.Arg899Trp) rs796052553
NM_000833.4(GRIN2A):c.2735C>G (p.Ser912Cys) rs200588845
NM_000833.4(GRIN2A):c.2744T>C (p.Met915Thr) rs1060503231
NM_000833.4(GRIN2A):c.2749T>G (p.Ser917Ala) rs1060503232
NM_000833.4(GRIN2A):c.2760A>G (p.Arg920=) rs80138441
NM_000833.4(GRIN2A):c.2765C>T (p.Ala922Val) rs200037904
NM_000833.4(GRIN2A):c.2779A>G (p.Arg927Gly) rs761044372
NM_000833.4(GRIN2A):c.2805T>G (p.Val935=) rs762984731
NM_000833.4(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044
NM_000833.4(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_000833.4(GRIN2A):c.2877C>T (p.Asn959=) rs756576680
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_000833.4(GRIN2A):c.288C>T (p.His96=) rs74853460
NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_000833.4(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363
NM_000833.4(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747
NM_000833.4(GRIN2A):c.2985G>C (p.Thr995=) rs781646325
NM_000833.4(GRIN2A):c.3003C>T (p.Ser1001=) rs199551487
NM_000833.4(GRIN2A):c.3039G>A (p.Leu1013=) rs577077724
NM_000833.4(GRIN2A):c.3042G>A (p.Trp1014Ter)
NM_000833.4(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_000833.4(GRIN2A):c.3108G>A (p.Glu1036=) rs1555482675
NM_000833.4(GRIN2A):c.3176C>G (p.Ser1059Cys) rs772497745
NM_000833.4(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_000833.4(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_000833.4(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_000833.4(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_000833.4(GRIN2A):c.3293G>A (p.Cys1098Tyr) rs746257794
NM_000833.4(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783
NM_000833.4(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864
NM_000833.4(GRIN2A):c.3391G>T (p.Asp1131Tyr)
NM_000833.4(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552
NM_000833.4(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_000833.4(GRIN2A):c.3476G>A (p.Arg1159His) rs534440095
NM_000833.4(GRIN2A):c.3505C>T (p.Arg1169Trp)
NM_000833.4(GRIN2A):c.3535T>G (p.Ser1179Ala) rs142670870
NM_000833.4(GRIN2A):c.3539A>T (p.Asn1180Ile) rs972229279
NM_000833.4(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202
NM_000833.4(GRIN2A):c.3630C>T (p.Asn1210=) rs750892541
NM_000833.4(GRIN2A):c.3659A>C (p.Asn1220Thr) rs1131691913
NM_000833.4(GRIN2A):c.3687C>A (p.Thr1229=) rs1060504863
NM_000833.4(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_000833.4(GRIN2A):c.3737A>G (p.Tyr1246Cys) rs779437393
NM_000833.4(GRIN2A):c.3820A>G (p.Asn1274Asp)
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_000833.4(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132
NM_000833.4(GRIN2A):c.3854G>T (p.Arg1285Met)
NM_000833.4(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131
NM_000833.4(GRIN2A):c.3953G>A (p.Arg1318Gln) rs149745535
NM_000833.4(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278
NM_000833.4(GRIN2A):c.402C>T (p.Ile134=) rs587780352
NM_000833.4(GRIN2A):c.4084A>G (p.Thr1362Ala) rs77282679
NM_000833.4(GRIN2A):c.4126C>T (p.Arg1376Cys) rs1426934537
NM_000833.4(GRIN2A):c.414+7C>T
NM_000833.4(GRIN2A):c.4140G>C (p.Gly1380=) rs373901698
NM_000833.4(GRIN2A):c.4176A>G (p.Pro1392=) rs886043681
NM_000833.4(GRIN2A):c.4185G>A (p.Ala1395=) rs778429009
NM_000833.4(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406
NM_000833.4(GRIN2A):c.4205G>A (p.Arg1402Gln)
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4230G>A (p.Ser1410=) rs762437402
NM_000833.4(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885
NM_000833.4(GRIN2A):c.4247G>C (p.Ser1416Thr) rs377712891
NM_000833.4(GRIN2A):c.4259A>G (p.Asn1420Ser)
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000833.4(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045
NM_000833.4(GRIN2A):c.4355G>A (p.Arg1452His)
NM_000833.4(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_000833.4(GRIN2A):c.4373C>G (p.Pro1458Arg) rs933017490
NM_000833.4(GRIN2A):c.468G>A (p.Thr156=) rs773513210
NM_000833.4(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_000833.4(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_000833.4(GRIN2A):c.540C>T (p.Tyr180=) rs745815376
NM_000833.4(GRIN2A):c.559G>A (p.Val187Ile) rs751692867
NM_000833.4(GRIN2A):c.60T>C (p.Gly20=) rs367543130
NM_000833.4(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124
NM_000833.4(GRIN2A):c.634G>A (p.Asp212Asn)
NM_000833.4(GRIN2A):c.63G>C (p.Pro21=) rs1060504865
NM_000833.4(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_000833.4(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_000833.4(GRIN2A):c.669C>T (p.His223=) rs138117658
NM_000833.4(GRIN2A):c.702C>T (p.Asp234=) rs150208429
NM_000833.4(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_000833.4(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815
NM_000833.4(GRIN2A):c.794C>T (p.Thr265Met)
NM_000833.4(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_000833.4(GRIN2A):c.828C>G (p.Leu276=) rs752295285
NM_000833.4(GRIN2A):c.837C>G (p.Val279=) rs55885632
NM_000833.4(GRIN2A):c.882C>T (p.Asp294=) rs201002710
NM_000833.4(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876
NM_000833.4(GRIN2A):c.886A>G (p.Ile296Val) rs953400144
NM_000833.4(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_000833.4(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_000833.4(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_000833.4(GRIN2A):c.942C>T (p.Pro314=) rs145172949
NM_000833.4(GRIN2A):c.952G>A (p.Ala318Thr)
NM_000833.4(GRIN2A):c.963C>T (p.Tyr321=) rs368200727
NM_000833.4(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389
NM_001014797.2(KCNMA1):c.28_30dup (p.Gly10_Ser11insGly) rs750804948
NM_001014797.2(KCNMA1):c.31_34delAGCAinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001014797.2(KCNMA1):c.34_36dup (p.Ser12_Gly13insSer)
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1003T>C (p.Ser335Pro)
NM_001042432.1(CLN3):c.1013G>A (p.Arg338His) rs557870972
NM_001042432.1(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_001042432.1(CLN3):c.1069G>T (p.Val357Leu)
NM_001042432.1(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_001042432.1(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_001042432.1(CLN3):c.1132A>G (p.Ile378Val)
NM_001042432.1(CLN3):c.1159G>A (p.Ala387Thr) rs768614719
NM_001042432.1(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_001042432.1(CLN3):c.1197+8T>C rs587780895
NM_001042432.1(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.1225A>G (p.Met409Val) rs776443981
NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_001042432.1(CLN3):c.1240A>G (p.Ile414Val)
NM_001042432.1(CLN3):c.1249A>G (p.Thr417Ala)
NM_001042432.1(CLN3):c.125+3G>A rs775577824
NM_001042432.1(CLN3):c.126-4C>A rs1555469191
NM_001042432.1(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_001042432.1(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_001042432.1(CLN3):c.222T>C (p.His74=) rs201225986
NM_001042432.1(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_001042432.1(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_001042432.1(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_001042432.1(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042432.1(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.1(CLN3):c.283G>A (p.Val95Ile)
NM_001042432.1(CLN3):c.290C>T (p.Thr97Met) rs376421578
NM_001042432.1(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_001042432.1(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_001042432.1(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_001042432.1(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_001042432.1(CLN3):c.361C>G (p.Leu121Val) rs752282954
NM_001042432.1(CLN3):c.375-19_375-4dup rs755313503
NM_001042432.1(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_001042432.1(CLN3):c.420C>G (p.Val140=) rs544119921
NM_001042432.1(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_001042432.1(CLN3):c.45G>A (p.Glu15=) rs201824641
NM_001042432.1(CLN3):c.460+3G>A rs779238243
NM_001042432.1(CLN3):c.461-3C>A rs181995380
NM_001042432.1(CLN3):c.47-3C>T
NM_001042432.1(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042432.1(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_001042432.1(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_001042432.1(CLN3):c.568G>A (p.Gly190Arg)
NM_001042432.1(CLN3):c.569dup (p.Ala191Serfs) rs386833732
NM_001042432.1(CLN3):c.616G>A (p.Gly206Ser) rs370603922
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.626C>T (p.Pro209Leu) rs139417824
NM_001042432.1(CLN3):c.644C>A (p.Ser215Tyr)
NM_001042432.1(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_001042432.1(CLN3):c.67C>T (p.Pro23Ser) rs757558651
NM_001042432.1(CLN3):c.734_736delCAG (p.Ala245del) rs776966610
NM_001042432.1(CLN3):c.748C>T (p.Arg250Trp) rs764881080
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042432.1(CLN3):c.771G>A (p.Glu257=) rs73533466
NM_001042432.1(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_001042432.1(CLN3):c.832T>A (p.Phe278Ile)
NM_001042432.1(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.1(CLN3):c.89A>G (p.His30Arg) rs1399199073
NM_001042432.1(CLN3):c.8G>A (p.Gly3Asp) rs756062000
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001042432.1(CLN3):c.962+7G>A rs1555468172
NM_001042432.1(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_001042432.1(CLN3):c.987C>T (p.Gly329=) rs777779035
NM_001077350.2(NPRL3):c.1024G>T (p.Val342Leu) rs11558704
NM_001077350.2(NPRL3):c.1041G>A (p.Pro347=) rs1128426
NM_001077350.2(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556
NM_001077350.2(NPRL3):c.1107C>T (p.Ser369=) rs572375358
NM_001077350.2(NPRL3):c.1113G>A (p.Pro371=)
NM_001077350.2(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.2(NPRL3):c.1162-1G>C rs751418986
NM_001077350.2(NPRL3):c.1165C>A (p.Gln389Lys)
NM_001077350.2(NPRL3):c.117A>G (p.Thr39=) rs764156867
NM_001077350.2(NPRL3):c.1197G>A (p.Gln399=) rs369473961
NM_001077350.2(NPRL3):c.1215G>C (p.Gln405His) rs1426917813
NM_001077350.2(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405
NM_001077350.2(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080
NM_001077350.2(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895
NM_001077350.2(NPRL3):c.1270dup (p.Arg424Profs)
NM_001077350.2(NPRL3):c.1278C>G (p.Asp426Glu) rs74712570
NM_001077350.2(NPRL3):c.1313G>A (p.Ser438Asn)
NM_001077350.2(NPRL3):c.1317C>T (p.Leu439=) rs1374917107
NM_001077350.2(NPRL3):c.1356C>T (p.Ser452=) rs373792025
NM_001077350.2(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.2(NPRL3):c.1419C>T (p.Ser473=) rs571533880
NM_001077350.2(NPRL3):c.1448C>T (p.Thr483Met)
NM_001077350.2(NPRL3):c.1484G>A (p.Arg495His)
NM_001077350.2(NPRL3):c.1485C>T (p.Arg495=) rs767665276
NM_001077350.2(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849
NM_001077350.2(NPRL3):c.1514_1518delAGAACinsTTCTGGGGCT (p.Gln505Leufs) rs1555439541
NM_001077350.2(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937
NM_001077350.2(NPRL3):c.1567C>T (p.Arg523Cys)
NM_001077350.2(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.2(NPRL3):c.1593C>T (p.Tyr531=) rs200669192
NM_001077350.2(NPRL3):c.1625T>C (p.Met542Thr) rs185556688
NM_001077350.2(NPRL3):c.1643G>A (p.Arg548His)
NM_001077350.2(NPRL3):c.1707_1708delCT (p.Ter570Serfs) rs756232589
NM_001077350.2(NPRL3):c.177C>A (p.Asp59Glu)
NM_001077350.2(NPRL3):c.180C>T (p.Gly60=) rs75187722
NM_001077350.2(NPRL3):c.275G>A (p.Arg92Gln)
NM_001077350.2(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.2(NPRL3):c.318+3A>T
NM_001077350.2(NPRL3):c.393+3G>C
NM_001077350.2(NPRL3):c.423_426delTCTG (p.Leu142Ilefs)
NM_001077350.2(NPRL3):c.439C>T (p.Arg147Cys)
NM_001077350.2(NPRL3):c.447C>T (p.Ile149=) rs367592989
NM_001077350.2(NPRL3):c.476G>A (p.Arg159His)
NM_001077350.2(NPRL3):c.52A>C (p.Arg18=) rs1218964632
NM_001077350.2(NPRL3):c.534C>T (p.Ser178=) rs140092767
NM_001077350.2(NPRL3):c.550A>C (p.Asn184His) rs73478320
NM_001077350.2(NPRL3):c.629+9G>C rs142080016
NM_001077350.2(NPRL3):c.641C>T (p.Ser214Leu) rs556232826
NM_001077350.2(NPRL3):c.696C>T (p.Pro232=) rs368272925
NM_001077350.2(NPRL3):c.714G>A (p.Ala238=) rs751260495
NM_001077350.2(NPRL3):c.748C>T (p.Arg250Trp) rs577935445
NM_001077350.2(NPRL3):c.767+1G>T
NM_001077350.2(NPRL3):c.85C>A (p.Gln29Lys)
NM_001077350.2(NPRL3):c.919C>T (p.Leu307=) rs549291288
NM_001077350.2(NPRL3):c.922_923dup (p.Gln308Hisfs) rs1555441032
NM_001077350.2(NPRL3):c.924+7C>G rs778499898
NM_001077350.2(NPRL3):c.925-2A>G
NM_001077350.2(NPRL3):c.94C>T (p.Gln32Ter)
NM_001077350.2(NPRL3):c.951G>A (p.Val317=) rs747655659
NM_001077350.2(NPRL3):c.997G>A (p.Val333Ile) rs367664536
NM_001112741.1(KCNC1):c.1017A>C (p.Arg339=) rs137989254
NM_001112741.1(KCNC1):c.1065C>T (p.Gly355=)
NM_001112741.1(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.1(KCNC1):c.121G>A (p.Asp41Asn)
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.1261G>A (p.Ala421Thr)
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.1269G>A (p.Ala423=)
NM_001112741.1(KCNC1):c.1287C>A (p.Ala429=) rs139804857
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.1440C>T (p.His480=) rs1554991429
NM_001112741.1(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218
NM_001112741.1(KCNC1):c.1505-8G>A rs1353872876
NM_001112741.1(KCNC1):c.1518T>C (p.Asn506=) rs747283873
NM_001112741.1(KCNC1):c.1574C>T (p.Ala525Val)
NM_001112741.1(KCNC1):c.1584C>G (p.Pro528=) rs1044982783
NM_001112741.1(KCNC1):c.1619G>A (p.Arg540His)
NM_001112741.1(KCNC1):c.1625G>A (p.Arg542Lys)
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)
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)
NM_001112741.1(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169
NM_001112741.1(KCNC1):c.223A>G (p.Lys75Glu)
NM_001112741.1(KCNC1):c.394G>A (p.Asp132Asn)
NM_001112741.1(KCNC1):c.433G>C (p.Gly145Arg) rs759773311
NM_001112741.1(KCNC1):c.435C>T (p.Gly145=)
NM_001112741.1(KCNC1):c.492G>A (p.Arg164=) rs200097310
NM_001112741.1(KCNC1):c.494C>T (p.Pro165Leu) rs749790557
NM_001112741.1(KCNC1):c.499G>T (p.Gly167Cys)
NM_001112741.1(KCNC1):c.51G>A (p.Thr17=) rs1423569470
NM_001112741.1(KCNC1):c.554C>T (p.Ser185Leu)
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)
NM_001112741.1(KCNC1):c.683G>T (p.Arg228Leu) rs200873319
NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala)
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)
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.750C>T (p.Gly250=) rs147271572
NM_001112741.1(KCNC1):c.788G>A (p.Arg263His)
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_001242896.1(DEPDC5):c.1014C>T (p.Pro338=) rs774034064
NM_001242896.1(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310
NM_001242896.1(DEPDC5):c.1182C>T (p.Gly394=) rs1289456216
NM_001242896.1(DEPDC5):c.1230C>G (p.Ser410=) rs771613005
NM_001242896.1(DEPDC5):c.1245T>C (p.Phe415=) rs1555880783
NM_001242896.1(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242896.1(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242896.1(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.1(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843
NM_001242896.1(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859
NM_001242896.1(DEPDC5):c.1325-1G>C rs1555882867
NM_001242896.1(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709
NM_001242896.1(DEPDC5):c.1380C>T (p.Asp460=) rs375451146
NM_001242896.1(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131
NM_001242896.1(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981
NM_001242896.1(DEPDC5):c.1385_1386delAT (p.Tyr462Terfs) rs1555882921
NM_001242896.1(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242896.1(DEPDC5):c.138T>A (p.Asp46Glu) rs535630975
NM_001242896.1(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050
NM_001242896.1(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242896.1(DEPDC5):c.1416A>G (p.Pro472=) rs930376201
NM_001242896.1(DEPDC5):c.1446-1G>T rs1555885023
NM_001242896.1(DEPDC5):c.1446-8C>A rs188460159
NM_001242896.1(DEPDC5):c.146+5G>A rs748264035
NM_001242896.1(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747
NM_001242896.1(DEPDC5):c.1472G>C (p.Ser491Thr) rs8138516
NM_001242896.1(DEPDC5):c.1509C>T (p.Ser503=) rs376217381
NM_001242896.1(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242896.1(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748
NM_001242896.1(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242896.1(DEPDC5):c.1758T>C (p.Val586=) rs766732676
NM_001242896.1(DEPDC5):c.1803C>T (p.Phe601=) rs368563183
NM_001242896.1(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242896.1(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242896.1(DEPDC5):c.1845delG (p.Arg615Serfs) rs1060501487
NM_001242896.1(DEPDC5):c.1870+10T>C rs760092505
NM_001242896.1(DEPDC5):c.1922C>T (p.Ala641Val) rs16989528
NM_001242896.1(DEPDC5):c.2004A>G (p.Gly668=) rs374037144
NM_001242896.1(DEPDC5):c.2006+3G>A rs752184633
NM_001242896.1(DEPDC5):c.2019C>G (p.Ser673=) rs372975881
NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577
NM_001242896.1(DEPDC5):c.2034C>T (p.Asp678=) rs779428450
NM_001242896.1(DEPDC5):c.204T>C (p.Ser68=) rs774206363
NM_001242896.1(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001242896.1(DEPDC5):c.2072T>C (p.Leu691Pro) rs201464790
NM_001242896.1(DEPDC5):c.2075C>T (p.Ser692Phe) rs199783404
NM_001242896.1(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142
NM_001242896.1(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535
NM_001242896.1(DEPDC5):c.2139A>G (p.Leu713=) rs16989536
NM_001242896.1(DEPDC5):c.2171-10C>T rs746913609
NM_001242896.1(DEPDC5):c.2171-9G>A rs770492339
NM_001242896.1(DEPDC5):c.2241C>G (p.Leu747=) rs16989537
NM_001242896.1(DEPDC5):c.2250G>A (p.Pro750=) rs758163770
NM_001242896.1(DEPDC5):c.2253G>A (p.Ala751=) rs777616535
NM_001242896.1(DEPDC5):c.2288G>A (p.Arg763His) rs542384516
NM_001242896.1(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242896.1(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854
NM_001242896.1(DEPDC5):c.2341G>C (p.Ala781Pro) rs761280493
NM_001242896.1(DEPDC5):c.2361C>T (p.Asp787=) rs371165640
NM_001242896.1(DEPDC5):c.2367T>C (p.Asp789=) rs751377415
NM_001242896.1(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.1(DEPDC5):c.2422A>G (p.Met808Val) rs1555897260
NM_001242896.1(DEPDC5):c.2465C>G (p.Pro822Arg) rs746372266
NM_001242896.1(DEPDC5):c.2486C>T (p.Pro829Leu) rs370487077
NM_001242896.1(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067
NM_001242896.1(DEPDC5):c.2515+10T>C rs1276307484
NM_001242896.1(DEPDC5):c.252T>C (p.Asp84=) rs183443533
NM_001242896.1(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555
NM_001242896.1(DEPDC5):c.2577G>A (p.Thr859=) rs375938114
NM_001242896.1(DEPDC5):c.2592G>A (p.Thr864=) rs763764167
NM_001242896.1(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242896.1(DEPDC5):c.2661C>A (p.His887Gln) rs1555899801
NM_001242896.1(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553
NM_001242896.1(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205
NM_001242896.1(DEPDC5):c.2735G>A (p.Arg912Gln) rs781159677
NM_001242896.1(DEPDC5):c.280-1G>A rs1556526609
NM_001242896.1(DEPDC5):c.2801+8A>G rs370009456
NM_001242896.1(DEPDC5):c.2823C>G (p.Phe941Leu) rs1555900811
NM_001242896.1(DEPDC5):c.2856T>C (p.Cys952=) rs115299174
NM_001242896.1(DEPDC5):c.2862C>T (p.Thr954=) rs1027803497
NM_001242896.1(DEPDC5):c.2880G>A (p.Thr960=) rs767693306
NM_001242896.1(DEPDC5):c.2890G>A (p.Ala964Thr) rs780008727
NM_001242896.1(DEPDC5):c.2894_2919del26 (p.His965Profs) rs1555900914
NM_001242896.1(DEPDC5):c.28G>A (p.Val10Ile) rs375027042
NM_001242896.1(DEPDC5):c.2989C>T (p.Arg997Cys) rs1555900981
NM_001242896.1(DEPDC5):c.2995C>T (p.Arg999Trp) rs375050296
NM_001242896.1(DEPDC5):c.2996G>A (p.Arg999Gln) rs201245740
NM_001242896.1(DEPDC5):c.3006G>A (p.Ser1002=) rs373751704
NM_001242896.1(DEPDC5):c.3054T>C (p.Thr1018=) rs372062387
NM_001242896.1(DEPDC5):c.3057G>A (p.Gly1019=) rs1060504242
NM_001242896.1(DEPDC5):c.3096A>G (p.Pro1032=) rs756207564
NM_001242896.1(DEPDC5):c.3123C>T (p.Leu1041=) rs1555901654
NM_001242896.1(DEPDC5):c.3155A>G (p.Lys1052Arg) rs200277794
NM_001242896.1(DEPDC5):c.3177A>G (p.Ala1059=) rs776608344
NM_001242896.1(DEPDC5):c.3213C>G (p.Ala1071=) rs373166302
NM_001242896.1(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.1(DEPDC5):c.3225C>T (p.Ser1075=) rs757534228
NM_001242896.1(DEPDC5):c.3265-3C>T rs371377906
NM_001242896.1(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141
NM_001242896.1(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.1(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628
NM_001242896.1(DEPDC5):c.3315C>T (p.Ser1105=) rs371969641
NM_001242896.1(DEPDC5):c.3331-10del rs377356885
NM_001242896.1(DEPDC5):c.3366C>T (p.Asp1122=) rs375702574
NM_001242896.1(DEPDC5):c.3437A>G (p.Gln1146Arg) rs1555913525
NM_001242896.1(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242896.1(DEPDC5):c.3486-5dup rs1555914747
NM_001242896.1(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087
NM_001242896.1(DEPDC5):c.351A>G (p.Leu117=) rs746535603
NM_001242896.1(DEPDC5):c.3563+1G>A rs1261611694
NM_001242896.1(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878
NM_001242896.1(DEPDC5):c.363+6_363+7del rs748242785
NM_001242896.1(DEPDC5):c.364-10C>T rs116263417
NM_001242896.1(DEPDC5):c.3643G>A (p.Val1215Met) rs201603222
NM_001242896.1(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339
NM_001242896.1(DEPDC5):c.3696+10C>A rs755463750
NM_001242896.1(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242896.1(DEPDC5):c.3798C>T (p.Pro1266=) rs376187025
NM_001242896.1(DEPDC5):c.3805+10G>A rs201608608
NM_001242896.1(DEPDC5):c.3806-8T>C rs1555919097
NM_001242896.1(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336
NM_001242896.1(DEPDC5):c.3810C>T (p.Ala1270=) rs200033252
NM_001242896.1(DEPDC5):c.3837C>T (p.His1279=) rs370472498
NM_001242896.1(DEPDC5):c.3846A>G (p.Gly1282=) rs771875089
NM_001242896.1(DEPDC5):c.3858C>T (p.Phe1286=) rs192246855
NM_001242896.1(DEPDC5):c.3948G>A (p.Leu1316=) rs371864100
NM_001242896.1(DEPDC5):c.4077C>T (p.Asp1359=) rs573674033
NM_001242896.1(DEPDC5):c.4124A>G (p.His1375Arg) rs1260083367
NM_001242896.1(DEPDC5):c.4126G>A (p.Gly1376Ser) rs1555929990
NM_001242896.1(DEPDC5):c.4136C>A (p.Ser1379Tyr) rs765244692
NM_001242896.1(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.1(DEPDC5):c.4302C>G (p.Pro1434=) rs531253840
NM_001242896.1(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.1(DEPDC5):c.4386C>T (p.Pro1462=) rs754105028
NM_001242896.1(DEPDC5):c.4392G>A (p.Thr1464=) rs756506370
NM_001242896.1(DEPDC5):c.4437G>A (p.Arg1479=) rs1057522689
NM_001242896.1(DEPDC5):c.4520-2A>G rs1555942859
NM_001242896.1(DEPDC5):c.453C>T (p.Val151=) rs558913954
NM_001242896.1(DEPDC5):c.4542C>T (p.Pro1514=) rs368918488
NM_001242896.1(DEPDC5):c.4571A>G (p.Gln1524Arg) rs377585542
NM_001242896.1(DEPDC5):c.4647C>G (p.Ala1549=) rs1555943168
NM_001242896.1(DEPDC5):c.4683C>T (p.Ser1561=) rs370189053
NM_001242896.1(DEPDC5):c.4733A>G (p.Asp1578Gly) rs201347461
NM_001242896.1(DEPDC5):c.4779T>A (p.Ser1593Arg) rs750919199
NM_001242896.1(DEPDC5):c.4809G>A (p.Pro1603=) rs201307299
NM_001242896.1(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503
NM_001242896.1(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242896.1(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773
NM_001242896.1(DEPDC5):c.633C>T (p.Asn211=) rs771270766
NM_001242896.1(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242896.1(DEPDC5):c.694+5G>A rs1060501485
NM_001242896.1(DEPDC5):c.711A>C (p.Ile237=) rs368571578
NM_001242896.1(DEPDC5):c.71T>G (p.Val24Gly) rs572660873
NM_001242896.1(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242896.1(DEPDC5):c.813C>T (p.Leu271=) rs200547310
NM_001242896.1(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.1(DEPDC5):c.871+1G>T rs1556607762
NM_001242896.1(DEPDC5):c.871+9T>C rs373471598
NM_001242896.1(DEPDC5):c.879T>C (p.Phe293=) rs1335286901
NM_001242896.1(DEPDC5):c.946+10G>C rs367917127
NM_001242896.1(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005
NM_001242896.2(DEPDC5):c.1095T>C (p.Asp365=) rs79070552
NM_001242896.2(DEPDC5):c.1133del (p.Pro378Hisfs)
NM_001242896.2(DEPDC5):c.1165C>T (p.Arg389Cys) rs41311139
NM_001242896.2(DEPDC5):c.1166G>A (p.Arg389His)
NM_001242896.2(DEPDC5):c.1261C>G (p.Pro421Ala)
NM_001242896.2(DEPDC5):c.1269A>G (p.Ile423Met)
NM_001242896.2(DEPDC5):c.1334G>A (p.Ser445Asn)
NM_001242896.2(DEPDC5):c.1354G>A (p.Ala452Thr)
NM_001242896.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242896.2(DEPDC5):c.1408C>T (p.Pro470Ser)
NM_001242896.2(DEPDC5):c.1453C>T (p.Arg485Ter)
NM_001242896.2(DEPDC5):c.1526G>A (p.Arg509His)
NM_001242896.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242896.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242896.2(DEPDC5):c.1729G>A (p.Val577Ile)
NM_001242896.2(DEPDC5):c.1794T>G (p.Ile598Met)
NM_001242896.2(DEPDC5):c.1945A>G (p.Arg649Gly)
NM_001242896.2(DEPDC5):c.2010C>A (p.His670Gln)
NM_001242896.2(DEPDC5):c.2177C>T (p.Thr726Ile)
NM_001242896.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242896.2(DEPDC5):c.2286C>T (p.Asp762=) rs200465447
NM_001242896.2(DEPDC5):c.2325T>A (p.Tyr775Ter)
NM_001242896.2(DEPDC5):c.2350G>A (p.Asp784Asn) rs776885208
NM_001242896.2(DEPDC5):c.2481G>A (p.Pro827=) rs61731664
NM_001242896.2(DEPDC5):c.2742G>A (p.Glu914=) rs118001924
NM_001242896.2(DEPDC5):c.279+3A>G
NM_001242896.2(DEPDC5):c.2863G>A (p.Ala955Thr)
NM_001242896.2(DEPDC5):c.2884G>T (p.Gly962Trp)
NM_001242896.2(DEPDC5):c.3014T>A (p.Met1005Lys)
NM_001242896.2(DEPDC5):c.3021G>T (p.Arg1007=)
NM_001242896.2(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531
NM_001242896.2(DEPDC5):c.3235A>G (p.Thr1079Ala) rs878854278
NM_001242896.2(DEPDC5):c.3247A>C (p.Met1083Leu)
NM_001242896.2(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.2(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242896.2(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662
NM_001242896.2(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490
NM_001242896.2(DEPDC5):c.3547del (p.Ala1183Profs)
NM_001242896.2(DEPDC5):c.3563+1G>C
NM_001242896.2(DEPDC5):c.3659G>A (p.Gly1220Glu)
NM_001242896.2(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.2(DEPDC5):c.3833G>T (p.Trp1278Leu)
NM_001242896.2(DEPDC5):c.3852C>A (p.Asp1284Glu)
NM_001242896.2(DEPDC5):c.3859G>T (p.Ala1287Ser)
NM_001242896.2(DEPDC5):c.3868C>T (p.Gln1290Ter)
NM_001242896.2(DEPDC5):c.3886G>T (p.Val1296Leu)
NM_001242896.2(DEPDC5):c.4183G>A (p.Ala1395Thr)
NM_001242896.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.2(DEPDC5):c.4307G>A (p.Arg1436His)
NM_001242896.2(DEPDC5):c.4354G>A (p.Gly1452Ser)
NM_001242896.2(DEPDC5):c.4391C>T (p.Thr1464Met)
NM_001242896.2(DEPDC5):c.4501_4502dup (p.Gln1501Hisfs)
NM_001242896.2(DEPDC5):c.4512C>T (p.His1504=) rs146449468
NM_001242896.2(DEPDC5):c.4620C>T (p.Cys1540=)
NM_001242896.2(DEPDC5):c.4630del (p.Val1544Serfs)
NM_001242896.2(DEPDC5):c.4692_4693delGGinsTTT (p.Asp1565Leufs)
NM_001242896.2(DEPDC5):c.602C>A (p.Ala201Asp)
NM_001242896.2(DEPDC5):c.763T>C (p.Tyr255His)
NM_001242896.2(DEPDC5):c.788_789del (p.Arg263Lysfs)
NM_001242896.2(DEPDC5):c.791G>A (p.Arg264Lys)
NM_001242896.2(DEPDC5):c.814G>A (p.Val272Ile) rs187334123
NM_001242896.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.2(DEPDC5):c.885A>G (p.Gln295=) rs16989495
NM_001492.5(GDF1):c.925T>C (p.Ser309Pro) rs864622513
NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.4(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.4(CTSD):c.1071+6C>T rs759803379
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.4(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.4(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.4(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.4(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.4(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.4(CTSD):c.1183A>G (p.Thr395Ala)
NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.4(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.4(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.4(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.4(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.4(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.4(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.4(CTSD):c.190G>A (p.Glu64Lys)
NM_001909.4(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.4(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.4(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.4(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.4(CTSD):c.253A>G (p.Ile85Val)
NM_001909.4(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.4(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.4(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.4(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.4(CTSD):c.352+10G>C rs775828680
NM_001909.4(CTSD):c.352+8A>T rs944771031
NM_001909.4(CTSD):c.353-6G>A
NM_001909.4(CTSD):c.353-8C>T rs760934292
NM_001909.4(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.4(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.4(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.4(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.4(CTSD):c.465_466invTG (p.Val156Met)
NM_001909.4(CTSD):c.471G>A (p.Ser157=)
NM_001909.4(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.4(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.4(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.4(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.4(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.4(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.4(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.4(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.4(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.4(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.4(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.4(CTSD):c.828-4G>A rs371034011
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.4(CTSD):c.846G>A (p.Gly282=) rs112021026
NM_001909.4(CTSD):c.882G>A (p.Val294=) rs778999077
NM_001909.4(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.4(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.4(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.4(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.4(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.4(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.4(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.4(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.4(CTSD):c.972+7G>A rs371747998
NM_001909.4(CTSD):c.972+9C>T rs746243061
NM_001909.4(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_002087.3(GRN):c.*78C>T rs5848
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.139G>A (p.Asp47Asn)
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.3(GRN):c.513C>T (p.Cys171=) rs147974849
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.3(GRN):c.709-2A>G rs63750548
NM_002087.3(GRN):c.808C>T (p.Leu270Phe)
NM_002087.3(GRN):c.80dup (p.Val28Cysfs) rs1392550887
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.3(GRN):c.836-1G>C rs63751296
NM_002087.3(GRN):c.933+1G>A rs63750707
NM_002087.3(GRN):c.933+7delA rs762910178
NM_002087.3(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.3(GRN):c.991C>T (p.Gln331Ter)
NM_002247.3(KCNMA1):c.1056C>T (p.Thr352=) rs75207686
NM_002247.3(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_002247.3(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_002247.3(KCNMA1):c.132_137delCTCCTC (p.Ser59_Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137delCTC (p.Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137dupCTC (p.Ser60_Val61insSer) rs572827902
NM_002247.3(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_002247.3(KCNMA1):c.1500G>A (p.Ala500=) rs201400928
NM_002247.3(KCNMA1):c.153_155delTTC (p.Ser60del) rs751901610
NM_002247.3(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_002247.3(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_002247.3(KCNMA1):c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del) rs754606765
NM_002247.3(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_002247.3(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941
NM_002247.3(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_002247.3(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_002247.3(KCNMA1):c.2015+7G>A rs78670694
NM_002247.3(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_002247.3(KCNMA1):c.2176A>G (p.Lys726Glu) rs751919609
NM_002247.3(KCNMA1):c.2217T>C (p.Asp739=) rs77280228
NM_002247.3(KCNMA1):c.2310+7G>A rs13377017
NM_002247.3(KCNMA1):c.2352C>T (p.Val784=) rs41274568
NM_002247.3(KCNMA1):c.2374G>A (p.Val792Ile) rs142770262
NM_002247.3(KCNMA1):c.2391C>T (p.Ile797=) rs2229009
NM_002247.3(KCNMA1):c.2501C>T (p.Thr834Met) rs200440843
NM_002247.3(KCNMA1):c.2536-8T>C rs78672251
NM_002247.3(KCNMA1):c.2595C>T (p.Cys865=) rs200241954
NM_002247.3(KCNMA1):c.2664G>A (p.Ala888=) rs113441525
NM_002247.3(KCNMA1):c.2673C>T (p.Asn891=) rs745890036
NM_002247.3(KCNMA1):c.2763A>G (p.Pro921=) rs138823071
NM_002247.3(KCNMA1):c.2791C>T (p.Arg931Cys) rs143599540
NM_002247.3(KCNMA1):c.2877C>T (p.Asp959=) rs115772068
NM_002247.3(KCNMA1):c.2919C>G (p.Pro973=) rs777115771
NM_002247.3(KCNMA1):c.2970C>T (p.Ser990=) rs2227913
NM_002247.3(KCNMA1):c.2973G>A (p.Ala991=) rs201397661
NM_002247.3(KCNMA1):c.2976G>A (p.Thr992=) rs75116272
NM_002247.3(KCNMA1):c.2984A>G (p.Asn995Ser) rs886039469
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834
NM_002247.3(KCNMA1):c.3066C>T (p.Asn1022=) rs45586138
NM_002247.3(KCNMA1):c.3144C>T (p.Leu1048=) rs779632278
NM_002247.3(KCNMA1):c.31_48delAGCAGCGGCGGCGGCGGC (p.Ser11_Gly16del)
NM_002247.3(KCNMA1):c.31_51delAGCAGCGGCGGCGGCGGCGGC (p.Ser11_Gly17del) rs1484259264
NM_002247.3(KCNMA1):c.31_54delAGCAGCGGCGGCGGCGGCGGCGGC (p.Ser11_Gly18del) rs587780364
NM_002247.3(KCNMA1):c.3242G>A (p.Arg1081Gln) rs1397556923
NM_002247.3(KCNMA1):c.3267C>G (p.Thr1089=) rs765051720
NM_002247.3(KCNMA1):c.3333G>A (p.Thr1111=) rs201721843
NM_002247.3(KCNMA1):c.3383G>A (p.Arg1128Gln)
NM_002247.3(KCNMA1):c.3476A>G (p.Asn1159Ser) rs563967757
NM_002247.3(KCNMA1):c.3479G>A (p.Arg1160Gln) rs200723995
NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_002247.3(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_002247.3(KCNMA1):c.460G>A (p.Ala154Thr)
NM_002247.3(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_002247.3(KCNMA1):c.498G>A (p.Ala166=) rs201765039
NM_002247.3(KCNMA1):c.54_56dup (p.Gly20_Ser21insGly) rs760628050
NM_002247.3(KCNMA1):c.603-6T>C rs201637862
NM_002247.3(KCNMA1):c.667G>A (p.Val223Met) rs779829350
NM_002247.3(KCNMA1):c.697-4C>T rs200844223
NM_002247.3(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_002247.3(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_002247.3(KCNMA1):c.85A>G (p.Ile29Val)
NM_002247.3(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_002247.3(KCNMA1):c.92C>G (p.Ala31Gly)
NM_002247.3(KCNMA1):c.945C>T (p.Ala315=) rs79713097
NM_003793.3(CTSF):c.1350delG (p.Asn451Thrfs)
NM_003793.3(CTSF):c.683C>G (p.Thr228Arg) rs148611356
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004287.4(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.17A>G (p.Gln6Arg) rs749270151
NM_004287.4(GOSR2):c.205C>T (p.Arg69Trp) rs770149230
NM_004287.4(GOSR2):c.22dup (p.Thr8Asnfs) rs746855352
NM_004287.4(GOSR2):c.235C>T (p.His79Tyr)
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) rs138510884
NM_004287.4(GOSR2):c.331A>G (p.Thr111Ala)
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.337-2A>G
NM_004287.4(GOSR2):c.358A>G (p.Met120Val) rs769454681
NM_004287.4(GOSR2):c.369A>G (p.Ser123=) rs150381512
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.447T>C (p.Asp149=) rs750298260
NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) rs150907052
NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) rs369247929
NM_004287.4(GOSR2):c.619G>A (p.Val207Met) rs780839289
NM_004287.4(GOSR2):c.636A>G (p.Thr212=) rs990159762
NM_004287.4(GOSR2):c.68A>G (p.Glu23Gly) rs200071814
NM_004287.4(GOSR2):c.71C>T (p.Thr24Met)
NM_004287.4(GOSR2):c.72G>A (p.Thr24=) rs145772886
NM_004287.4(GOSR2):c.77A>G (p.Asp26Gly) rs773543394
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.4(GOSR2):c.95-6G>T rs1345182096
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_005025.4(SERPINI1):c.1039G>T (p.Glu347Ter)
NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306
NM_005025.4(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_005025.4(SERPINI1):c.1117G>A (p.Asp373Asn)
NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) rs144637103
NM_005025.4(SERPINI1):c.1186C>T (p.His396Tyr)
NM_005025.4(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028
NM_005025.4(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384
NM_005025.4(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811
NM_005025.4(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299
NM_005025.4(SERPINI1):c.218G>A (p.Arg73His) rs139808176
NM_005025.4(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002
NM_005025.4(SERPINI1):c.286A>G (p.Met96Val) rs372528371
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.297T>G (p.Ala99=) rs61761891
NM_005025.4(SERPINI1):c.340G>A (p.Val114Met) rs61735308
NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307
NM_005025.4(SERPINI1):c.432T>C (p.Asn144=) rs140116256
NM_005025.4(SERPINI1):c.439G>A (p.Val147Met)
NM_005025.4(SERPINI1):c.473A>G (p.Asn158Ser) rs767144751
NM_005025.4(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_005025.4(SERPINI1):c.508A>G (p.Arg170Gly)
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005025.4(SERPINI1):c.526A>G (p.Thr176Ala)
NM_005025.4(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_005025.4(SERPINI1):c.684T>C (p.Phe228=) rs557897218
NM_005025.4(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_005025.4(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005025.4(SERPINI1):c.817G>A (p.Ala273Thr) rs778331359
NM_005025.4(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908
NM_005025.4(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_005025.4(SERPINI1):c.854A>C (p.Lys285Thr)
NM_005025.4(SERPINI1):c.881+10T>G rs113533056
NM_005025.4(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_005025.4(SERPINI1):c.990G>T (p.Glu330Asp) rs372246975
NM_005045.3(RELN):c.10016T>C (p.Met3339Thr) rs150638029
NM_005045.3(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.3(RELN):c.10020G>A (p.Ser3340=) rs760919496
NM_005045.3(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.3(RELN):c.10102G>A (p.Gly3368Arg) rs753769576
NM_005045.3(RELN):c.10108A>G (p.Thr3370Ala) rs570807790
NM_005045.3(RELN):c.1013T>G (p.Val338Gly) rs200513558
NM_005045.3(RELN):c.10181+7G>A rs1554360619
NM_005045.3(RELN):c.10276G>A (p.Val3426Ile) rs188371196
NM_005045.3(RELN):c.10310_10312delTGA (p.Met3437del) rs1406481652
NM_005045.3(RELN):c.10322G>A (p.Arg3441Gln) rs116463039
NM_005045.3(RELN):c.10357C>T (p.Arg3453Ter)
NM_005045.3(RELN):c.1075G>A (p.Val359Ile) rs114926265
NM_005045.3(RELN):c.108_110delCTT (p.Phe38del)
NM_005045.3(RELN):c.1194C>T (p.Gly398=) rs761288381
NM_005045.3(RELN):c.1231C>A (p.Leu411Ile) rs144978163
NM_005045.3(RELN):c.1250A>G (p.Gln417Arg) rs1554402126
NM_005045.3(RELN):c.1252G>A (p.Glu418Lys) rs983845835
NM_005045.3(RELN):c.1277G>A (p.Ser426Asn) rs568950079
NM_005045.3(RELN):c.127C>A (p.His43Asn)
NM_005045.3(RELN):c.1290-3delT rs146986040
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.3(RELN):c.1336G>C (p.Glu446Gln) rs56146903
NM_005045.3(RELN):c.1377G>A (p.Arg459=) rs73712207
NM_005045.3(RELN):c.1379A>C (p.Lys460Thr) rs779530655
NM_005045.3(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.3(RELN):c.1442-8T>C rs181761096
NM_005045.3(RELN):c.1483A>G (p.Ile495Val) rs150850005
NM_005045.3(RELN):c.1555G>T (p.Val519Phe) rs560704715
NM_005045.3(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.3(RELN):c.1621A>G (p.Arg541Gly)
NM_005045.3(RELN):c.1708C>G (p.His570Asp) rs374546580
NM_005045.3(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.3(RELN):c.1817C>T (p.Thr606Ile) rs540111252
NM_005045.3(RELN):c.1820A>G (p.Glu607Gly) rs1554397636
NM_005045.3(RELN):c.1824C>T (p.Cys608=) rs79620906
NM_005045.3(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.3(RELN):c.1906A>G (p.Thr636Ala)
NM_005045.3(RELN):c.1924G>A (p.Ala642Thr) rs201735865
NM_005045.3(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.3(RELN):c.2016G>A (p.Pro672=) rs146749232
NM_005045.3(RELN):c.2039G>T (p.Gly680Val)
NM_005045.3(RELN):c.2071T>G (p.Cys691Gly)
NM_005045.3(RELN):c.2158C>G (p.Leu720Val) rs1554395337
NM_005045.3(RELN):c.2176T>A (p.Phe726Ile) rs200007424
NM_005045.3(RELN):c.22C>G (p.Arg8Gly) rs1470522542
NM_005045.3(RELN):c.2313G>T (p.Gln771His) rs777581847
NM_005045.3(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.3(RELN):c.2376T>C (p.Gly792=) rs398124191
NM_005045.3(RELN):c.2434C>G (p.His812Asp) rs3025968
NM_005045.3(RELN):c.2466-6C>T rs1167948188
NM_005045.3(RELN):c.246C>G (p.Thr82=) rs113242008
NM_005045.3(RELN):c.2477T>C (p.Val826Ala) rs1554394300
NM_005045.3(RELN):c.26A>C (p.Gln9Pro) rs115165703
NM_005045.3(RELN):c.2717C>G (p.Ser906Cys) rs1174257090
NM_005045.3(RELN):c.2725G>A (p.Ala909Thr)
NM_005045.3(RELN):c.2754A>G (p.Gln918=) rs114620008
NM_005045.3(RELN):c.2779A>G (p.Met927Val)
NM_005045.3(RELN):c.2827C>T (p.His943Tyr) rs190615928
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.2944A>C (p.Ile982Leu) rs143972828
NM_005045.3(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.3(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.3(RELN):c.3060C>T (p.Asp1020=) rs115886170
NM_005045.3(RELN):c.3086T>C (p.Ile1029Thr) rs757915171
NM_005045.3(RELN):c.3123C>T (p.Gly1041=) rs41276148
NM_005045.3(RELN):c.3133C>T (p.His1045Tyr) rs1554389286
NM_005045.3(RELN):c.3197C>T (p.Pro1066Leu) rs116225248
NM_005045.3(RELN):c.3203C>A (p.Thr1068Lys) rs758968274
NM_005045.3(RELN):c.3209T>C (p.Met1070Thr) rs1554389059
NM_005045.3(RELN):c.3210G>A (p.Met1070Ile)
NM_005045.3(RELN):c.3424T>A (p.Ser1142Thr) rs145484343
NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.3(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.3(RELN):c.3617G>A (p.Gly1206Glu) rs866737719
NM_005045.3(RELN):c.3622G>A (p.Asp1208Asn) rs1230772547
NM_005045.3(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.3(RELN):c.3655A>G (p.Ile1219Val) rs1057524179
NM_005045.3(RELN):c.3706C>T (p.Pro1236Ser) rs750302438
NM_005045.3(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.3(RELN):c.3839G>A (p.Gly1280Glu) rs55689103
NM_005045.3(RELN):c.3891T>A (p.Pro1297=) rs145600583
NM_005045.3(RELN):c.3906G>C (p.Gln1302His) rs1554386837
NM_005045.3(RELN):c.3913-9T>C rs372473867
NM_005045.3(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.3(RELN):c.416C>G (p.Thr139Ser) rs79471015
NM_005045.3(RELN):c.4182A>G (p.Ser1394=) rs147496823
NM_005045.3(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.3(RELN):c.4214G>T (p.Gly1405Val)
NM_005045.3(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.3(RELN):c.4257T>C (p.His1419=) rs138924805
NM_005045.3(RELN):c.4337A>G (p.Asn1446Ser) rs115577014
NM_005045.3(RELN):c.4408G>A (p.Val1470Ile) rs143213152
NM_005045.3(RELN):c.4434C>G (p.Asn1478Lys) rs375118721
NM_005045.3(RELN):c.4441A>G (p.Lys1481Glu) rs896069835
NM_005045.3(RELN):c.4472G>A (p.Arg1491Lys) rs764417211
NM_005045.3(RELN):c.4495G>C (p.Asp1499His) rs200428576
NM_005045.3(RELN):c.4517T>A (p.Val1506Asp) rs1554381609
NM_005045.3(RELN):c.4589-8T>G rs362801
NM_005045.3(RELN):c.4609A>T (p.Asn1537Tyr) rs753346658
NM_005045.3(RELN):c.4630C>T (p.His1544Tyr)
NM_005045.3(RELN):c.4703C>T (p.Ala1568Val)
NM_005045.3(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.3(RELN):c.474-7T>C rs55693709
NM_005045.3(RELN):c.4843G>C (p.Asp1615His)
NM_005045.3(RELN):c.4893C>G (p.Asp1631Glu) rs201296719
NM_005045.3(RELN):c.4907A>G (p.Asp1636Gly) rs587780439
NM_005045.3(RELN):c.490C>T (p.Arg164Trp) rs776886354
NM_005045.3(RELN):c.4936+5A>G rs1554380236
NM_005045.3(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.3(RELN):c.4943C>T (p.Pro1648Leu)
NM_005045.3(RELN):c.4985C>T (p.Thr1662Ile) rs750833122
NM_005045.3(RELN):c.4986C>G (p.Thr1662=) rs78221963
NM_005045.3(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795
NM_005045.3(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.3(RELN):c.5077G>A (p.Asp1693Asn)
NM_005045.3(RELN):c.5088T>C (p.Leu1696=) rs114551393
NM_005045.3(RELN):c.5095G>A (p.Glu1699Lys) rs147657490
NM_005045.3(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.3(RELN):c.5145A>G (p.Ser1715=) rs113229231
NM_005045.3(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.3(RELN):c.5166C>G (p.Phe1722Leu) rs886061856
NM_005045.3(RELN):c.5194C>T (p.Leu1732Phe)
NM_005045.3(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.3(RELN):c.5225G>A (p.Arg1742Gln) rs199553777
NM_005045.3(RELN):c.5258G>A (p.Gly1753Glu) rs1554379129
NM_005045.3(RELN):c.5274G>T (p.Ala1758=) rs139102992
NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.3(RELN):c.5344C>T (p.Arg1782Cys) rs138576725
NM_005045.3(RELN):c.5351+3A>G rs6967725
NM_005045.3(RELN):c.5352-9C>G rs758405612
NM_005045.3(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.3(RELN):c.5489G>A (p.Gly1830Asp) rs1255854701
NM_005045.3(RELN):c.5498T>C (p.Ile1833Thr)
NM_005045.3(RELN):c.5529+10A>T rs371510474
NM_005045.3(RELN):c.5599A>C (p.Arg1867=) rs753376558
NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.3(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.3(RELN):c.565C>T (p.His189Tyr) rs115806540
NM_005045.3(RELN):c.5668A>G (p.Ile1890Val) rs147026512
NM_005045.3(RELN):c.5711C>T (p.Thr1904Met) rs114190729
NM_005045.3(RELN):c.576A>G (p.Leu192=) rs142874980
NM_005045.3(RELN):c.577+9T>C rs750186579
NM_005045.3(RELN):c.5775A>G (p.Arg1925=) rs2711866
NM_005045.3(RELN):c.578-3delT
NM_005045.3(RELN):c.5796C>T (p.Asn1932=) rs200299096
NM_005045.3(RELN):c.5822T>C (p.Val1941Ala) rs149837553
NM_005045.3(RELN):c.5831T>G (p.Phe1944Cys) rs77664442
NM_005045.3(RELN):c.5880A>G (p.Thr1960=) rs362793
NM_005045.3(RELN):c.5903A>T (p.Asp1968Val) rs1284690672
NM_005045.3(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.3(RELN):c.5961G>T (p.Lys1987Asn) rs143948239
NM_005045.3(RELN):c.59C>T (p.Thr20Met) rs145135688
NM_005045.3(RELN):c.6031C>T (p.Arg2011Cys) rs374628146
NM_005045.3(RELN):c.6032G>A (p.Arg2011His)
NM_005045.3(RELN):c.6072+7G>T rs777197865
NM_005045.3(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.3(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.3(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.3(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.3(RELN):c.6166C>T (p.Pro2056Ser) rs200409290
NM_005045.3(RELN):c.6190C>T (p.His2064Tyr)
NM_005045.3(RELN):c.6193G>A (p.Val2065Ile) rs201627577
NM_005045.3(RELN):c.6213C>T (p.Thr2071=) rs554215103
NM_005045.3(RELN):c.621C>T (p.Asp207=) rs114627891
NM_005045.3(RELN):c.6228C>T (p.Ser2076=) rs115379833
NM_005045.3(RELN):c.6240C>T (p.Tyr2080=) rs201505136
NM_005045.3(RELN):c.6274G>A (p.Val2092Met)
NM_005045.3(RELN):c.6278A>C (p.His2093Pro) rs149152189
NM_005045.3(RELN):c.6303-9C>T rs200658237
NM_005045.3(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.3(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954
NM_005045.3(RELN):c.6404T>C (p.Met2135Thr)
NM_005045.3(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.3(RELN):c.6458G>A (p.Gly2153Asp) rs144387303
NM_005045.3(RELN):c.6471A>G (p.Pro2157=) rs370086835
NM_005045.3(RELN):c.6512A>G (p.Asp2171Gly) rs754745320
NM_005045.3(RELN):c.6520G>A (p.Glu2174Lys) rs146877597
NM_005045.3(RELN):c.6553A>T (p.Met2185Leu) rs114686696
NM_005045.3(RELN):c.656+7dup rs768445353
NM_005045.3(RELN):c.6647G>A (p.Arg2216Gln) rs200010849
NM_005045.3(RELN):c.6671+8T>C rs362758
NM_005045.3(RELN):c.6726G>C (p.Arg2242Ser) rs201422815
NM_005045.3(RELN):c.6875G>A (p.Arg2292His) rs565382144
NM_005045.3(RELN):c.690G>C (p.Gln230His)
NM_005045.3(RELN):c.6938T>C (p.Ile2313Thr) rs141004002
NM_005045.3(RELN):c.6939T>C (p.Ile2313=) rs113498433
NM_005045.3(RELN):c.6962C>T (p.Thr2321Met) rs116065504
NM_005045.3(RELN):c.697G>A (p.Ala233Thr) rs181961566
NM_005045.3(RELN):c.7055A>T (p.Asp2352Val) rs143688278
NM_005045.3(RELN):c.7086C>T (p.Thr2362=) rs362747
NM_005045.3(RELN):c.7107C>T (p.Asp2369=) rs114339919
NM_005045.3(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.3(RELN):c.7110_7111invTG (p.Ala2371Thr)
NM_005045.3(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.3(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.3(RELN):c.7147G>A (p.Ala2383Thr) rs978248682
NM_005045.3(RELN):c.7180+8T>C rs1022021889
NM_005045.3(RELN):c.7287C>A (p.Ile2429=) rs915583909
NM_005045.3(RELN):c.7310A>G (p.Lys2437Arg) rs762951578
NM_005045.3(RELN):c.7423G>A (p.Val2475Ile) rs764015748
NM_005045.3(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.3(RELN):c.7498G>A (p.Glu2500Lys) rs1554369707
NM_005045.3(RELN):c.7538C>G (p.Ser2513Cys) rs114647348
NM_005045.3(RELN):c.7580C>A (p.Ser2527Tyr)
NM_005045.3(RELN):c.7590C>A (p.Asn2530Lys) rs766869538
NM_005045.3(RELN):c.7634C>T (p.Ala2545Val) rs116634494
NM_005045.3(RELN):c.7644G>A (p.Ser2548=) rs150743664
NM_005045.3(RELN):c.7668G>C (p.Gly2556=) rs1554369642
NM_005045.3(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.3(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.3(RELN):c.7897G>A (p.Glu2633Lys)
NM_005045.3(RELN):c.7915C>T (p.Arg2639Cys) rs770944264
NM_005045.3(RELN):c.8004C>T (p.Thr2668=) rs368087558
NM_005045.3(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.3(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.3(RELN):c.8086G>A (p.Ala2696Thr) rs115640958
NM_005045.3(RELN):c.8114C>T (p.Thr2705Ile) rs1554368281
NM_005045.3(RELN):c.8119+6T>G
NM_005045.3(RELN):c.8141A>G (p.His2714Arg)
NM_005045.3(RELN):c.8146G>A (p.Asp2716Asn) rs771804551
NM_005045.3(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.3(RELN):c.8181T>G (p.Asp2727Glu)
NM_005045.3(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255
NM_005045.3(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.3(RELN):c.8239C>A (p.Leu2747Met)
NM_005045.3(RELN):c.8261T>G (p.Ile2754Ser) rs771681966
NM_005045.3(RELN):c.8490-3T>C rs373564931
NM_005045.3(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.3(RELN):c.855A>G (p.Leu285=) rs749680856
NM_005045.3(RELN):c.8625G>A (p.Pro2875=) rs190273964
NM_005045.3(RELN):c.877G>A (p.Asp293Asn) rs200289289
NM_005045.3(RELN):c.8811G>A (p.Ala2937=) rs144728023
NM_005045.3(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.3(RELN):c.892G>A (p.Glu298Lys)
NM_005045.3(RELN):c.8944G>A (p.Asp2982Asn) rs148509350
NM_005045.3(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.3(RELN):c.906C>T (p.Ala302=) rs114494558
NM_005045.3(RELN):c.9105G>A (p.Gly3035=) rs1279644782
NM_005045.3(RELN):c.9109G>C (p.Glu3037Gln) rs142059680
NM_005045.3(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.3(RELN):c.9220A>T (p.Ser3074Cys) rs774630932
NM_005045.3(RELN):c.9298_9300delAAG (p.Lys3100del) rs762015967
NM_005045.3(RELN):c.9321C>T (p.Leu3107=) rs150387973
NM_005045.3(RELN):c.9340A>G (p.Ile3114Val) rs149613347
NM_005045.3(RELN):c.9370-13_9370-8delATGTTT rs141397961
NM_005045.3(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.3(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.3(RELN):c.9446C>T (p.Ser3149Leu)
NM_005045.3(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.3(RELN):c.9478C>G (p.Leu3160Val)
NM_005045.3(RELN):c.9505T>G (p.Cys3169Gly)
NM_005045.3(RELN):c.9524A>C (p.His3175Pro) rs74513461
NM_005045.3(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479
NM_005045.3(RELN):c.9714C>T (p.His3238=) rs78218774
NM_005045.3(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.3(RELN):c.9751G>A (p.Glu3251Lys) rs376520049
NM_005045.3(RELN):c.9753G>C (p.Glu3251Asp)
NM_005045.3(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.3(RELN):c.9903C>T (p.Tyr3301=) rs73714404
NM_005045.3(RELN):c.9984-9G>A rs758320422
NM_005045.3(RELN):c.9991A>G (p.Met3331Val) rs1554360669
NM_005076.4(CNTN2):c.105C>T (p.Phe35=) rs147074435
NM_005076.4(CNTN2):c.1115G>A (p.Arg372Gln) rs1223229519
NM_005076.4(CNTN2):c.1225G>A (p.Glu409Lys) rs1332074487
NM_005076.4(CNTN2):c.1241-3T>C rs200577280
NM_005076.4(CNTN2):c.1295G>A (p.Arg432His)
NM_005076.4(CNTN2):c.1309C>G (p.Leu437Val) rs79431021
NM_005076.4(CNTN2):c.1344C>T (p.Ala448=) rs778178054
NM_005076.4(CNTN2):c.1367C>T (p.Thr456Met)
NM_005076.4(CNTN2):c.1392-6C>T rs749779814
NM_005076.4(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005076.4(CNTN2):c.1411G>A (p.Gly471Ser) rs191357187
NM_005076.4(CNTN2):c.1441T>C (p.Ser481Pro) rs1362090710
NM_005076.4(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440
NM_005076.4(CNTN2):c.1495A>G (p.Ser499Gly)
NM_005076.4(CNTN2):c.1516C>A (p.Arg506=) rs114903768
NM_005076.4(CNTN2):c.1695G>A (p.Val565=) rs148801784
NM_005076.4(CNTN2):c.1734G>A (p.Gln578=) rs200403480
NM_005076.4(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.4(CNTN2):c.178G>A (p.Ala60Thr) rs12076297
NM_005076.4(CNTN2):c.1820C>T (p.Pro607Leu)
NM_005076.4(CNTN2):c.184C>T (p.Arg62Cys)
NM_005076.4(CNTN2):c.186C>T (p.Arg62=) rs762058787
NM_005076.4(CNTN2):c.1896C>T (p.Phe632=) rs145918837
NM_005076.4(CNTN2):c.1915G>A (p.Ala639Thr)
NM_005076.4(CNTN2):c.1963C>G (p.Gln655Glu)
NM_005076.4(CNTN2):c.1969C>T (p.Arg657Trp) rs2305276
NM_005076.4(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871
NM_005076.4(CNTN2):c.2032T>A (p.Trp678Arg) rs1553347245
NM_005076.4(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710
NM_005076.4(CNTN2):c.215+6G>C rs370377460
NM_005076.4(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952
NM_005076.4(CNTN2):c.2163T>C (p.Gly721=) rs756031843
NM_005076.4(CNTN2):c.223A>G (p.Met75Val)
NM_005076.4(CNTN2):c.2340C>G (p.Pro780=) rs975647789
NM_005076.4(CNTN2):c.235G>A (p.Glu79Lys)
NM_005076.4(CNTN2):c.2469G>A (p.Gly823=) rs138090348
NM_005076.4(CNTN2):c.2583G>A (p.Ala861=) rs115143667
NM_005076.4(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921
NM_005076.4(CNTN2):c.2662G>A (p.Val888Met) rs775579054
NM_005076.4(CNTN2):c.2677C>T (p.Arg893Trp) rs149814483
NM_005076.4(CNTN2):c.2686A>T (p.Thr896Ser)
NM_005076.4(CNTN2):c.2741G>A (p.Arg914Gln)
NM_005076.4(CNTN2):c.2879C>T (p.Thr960Met)
NM_005076.4(CNTN2):c.2886C>T (p.His962=) rs56111335
NM_005076.4(CNTN2):c.2922T>G (p.Pro974=) rs116036521
NM_005076.4(CNTN2):c.2964G>A (p.Gly988=) rs566959580
NM_005076.4(CNTN2):c.297C>T (p.Asn99=) rs9787172
NM_005076.4(CNTN2):c.3038T>C (p.Met1013Thr)
NM_005076.4(CNTN2):c.3066C>T (p.Gly1022=)
NM_005076.4(CNTN2):c.358G>A (p.Val120Ile) rs1424524492
NM_005076.4(CNTN2):c.423C>T (p.Asp141=) rs774281069
NM_005076.4(CNTN2):c.424C>T (p.Pro142Ser)
NM_005076.4(CNTN2):c.505C>T (p.Leu169Phe) rs142502980
NM_005076.4(CNTN2):c.513C>T (p.Asn171=) rs371187600
NM_005076.4(CNTN2):c.514G>A (p.Glu172Lys) rs763168456
NM_005076.4(CNTN2):c.536C>T (p.Thr179Met) rs376459307
NM_005076.4(CNTN2):c.552C>T (p.Phe184=) rs777614226
NM_005076.4(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.4(CNTN2):c.609C>T (p.Gly203=) rs762080946
NM_005076.4(CNTN2):c.635A>T (p.His212Leu)
NM_005076.4(CNTN2):c.63C>T (p.Ser21=) rs149630443
NM_005076.4(CNTN2):c.689C>T (p.Ala230Val) rs138454536
NM_005076.4(CNTN2):c.704G>A (p.Arg235Gln) rs2229867
NM_005076.4(CNTN2):c.745A>G (p.Thr249Ala)
NM_005076.4(CNTN2):c.792T>G (p.Phe264Leu) rs183799891
NM_005076.4(CNTN2):c.820C>T (p.Arg274Cys) rs1473353987
NM_005076.4(CNTN2):c.821G>A (p.Arg274His) rs200893856
NM_005076.4(CNTN2):c.947C>T (p.Thr316Ile) rs139732336
NM_005097.2(LGI1):c.1669G>A (p.Ala557Thr) rs370955995
NM_005097.2(LGI1):c.191C>T (p.Thr64Ile) rs373616721
NM_005097.2(LGI1):c.1A>G (p.Met1Val) rs202204627
NM_005097.3(LGI1):c.1026C>G (p.Asn342Lys) rs1554907730
NM_005097.3(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.3(LGI1):c.1155A>C (p.Leu385=) rs202148793
NM_005097.3(LGI1):c.1158_1168dup (p.Thr390Lysfs) rs1554907767
NM_005097.3(LGI1):c.1210A>T (p.Ser404Cys)
NM_005097.3(LGI1):c.1220G>A (p.Arg407His) rs201376381
NM_005097.3(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.3(LGI1):c.1318G>A (p.Val440Met)
NM_005097.3(LGI1):c.1331T>A (p.Val444Glu)
NM_005097.3(LGI1):c.1336A>C (p.Ile446Leu) rs769204967
NM_005097.3(LGI1):c.1370T>C (p.Val457Ala) rs1554907821
NM_005097.3(LGI1):c.1439_1442delAGCC (p.Gln480Leufs) rs1554907835
NM_005097.3(LGI1):c.143G>A (p.Cys48Tyr) rs1554901937
NM_005097.3(LGI1):c.1471A>G (p.Ile491Val)
NM_005097.3(LGI1):c.1652T>C (p.Val551Ala)
NM_005097.3(LGI1):c.1668C>T (p.Ser556=) rs763654125
NM_005097.3(LGI1):c.205G>A (p.Val69Ile)
NM_005097.3(LGI1):c.216-55T>C rs143132529
NM_005097.3(LGI1):c.299C>T (p.Ser100Leu) rs1263918669
NM_005097.3(LGI1):c.303C>T (p.Asn101=) rs762343857
NM_005097.3(LGI1):c.310G>A (p.Asp104Asn) rs145675377
NM_005097.3(LGI1):c.345A>G (p.Pro115=) rs151104648
NM_005097.3(LGI1):c.386C>G (p.Ser129Ter)
NM_005097.3(LGI1):c.398A>G (p.His133Arg) rs376452111
NM_005097.3(LGI1):c.46C>G (p.Leu16Val) rs777973395
NM_005097.3(LGI1):c.504-1G>T
NM_005097.3(LGI1):c.600C>T (p.Cys200=) rs148862146
NM_005097.3(LGI1):c.618C>T (p.Tyr206=) rs1554907108
NM_005097.3(LGI1):c.625C>T (p.Arg209Cys)
NM_005097.3(LGI1):c.626G>A (p.Arg209His)
NM_005097.3(LGI1):c.634A>G (p.Asn212Asp) rs757629755
NM_005097.3(LGI1):c.657C>T (p.Phe219=) rs1111820
NM_005097.3(LGI1):c.674-5dup rs1467827240
NM_005097.3(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.3(LGI1):c.717A>C (p.Ile239=) rs146425212
NM_005097.3(LGI1):c.738T>A (p.Asn246Lys) rs781404129
NM_005097.3(LGI1):c.812C>T (p.Thr271Ile) rs140752487
NM_005097.3(LGI1):c.836C>G (p.Thr279Arg)
NM_005097.3(LGI1):c.837A>G (p.Thr279=) rs755068491
NM_005097.3(LGI1):c.838+10G>A rs756267808
NM_005097.3(LGI1):c.882G>A (p.Gln294=) rs1554907709
NM_005506.3(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.3(SCARB2):c.1057A>G (p.Ile353Val)
NM_005506.3(SCARB2):c.1067T>C (p.Met356Thr)
NM_005506.3(SCARB2):c.1136C>T (p.Ala379Val) rs144147706
NM_005506.3(SCARB2):c.1186G>A (p.Val396Ile) rs2228380
NM_005506.3(SCARB2):c.1188-5T>C rs775387526
NM_005506.3(SCARB2):c.11G>A (p.Cys4Tyr)
NM_005506.3(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.3(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901
NM_005506.3(SCARB2):c.1239+8C>G rs369265725
NM_005506.3(SCARB2):c.1262C>T (p.Thr421Met) rs149474488
NM_005506.3(SCARB2):c.1265C>T (p.Ala422Val) rs756606813
NM_005506.3(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409
NM_005506.3(SCARB2):c.1382_1383delAG (p.Gln461Argfs)
NM_005506.3(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.3(SCARB2):c.1412A>T (p.Glu471Val)
NM_005506.3(SCARB2):c.171T>C (p.Pro57=) rs199895330
NM_005506.3(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932
NM_005506.3(SCARB2):c.223A>T (p.Ile75Phe)
NM_005506.3(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.3(SCARB2):c.244C>T (p.Arg82Trp) rs142690468
NM_005506.3(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.3(SCARB2):c.276-7C>G rs200507087
NM_005506.3(SCARB2):c.277G>A (p.Glu93Lys) rs145870223
NM_005506.3(SCARB2):c.280C>T (p.Leu94Phe) rs752416481
NM_005506.3(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.3(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.3(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005506.3(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786
NM_005506.3(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.3(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.3(SCARB2):c.424-4G>A rs368869126
NM_005506.3(SCARB2):c.424-5C>T rs192876326
NM_005506.3(SCARB2):c.443A>G (p.Gln148Arg)
NM_005506.3(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.3(SCARB2):c.463A>G (p.Ile155Val) rs772434203
NM_005506.3(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005506.3(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.3(SCARB2):c.48G>C (p.Leu16=) rs72857097
NM_005506.3(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.3(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.3(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388
NM_005506.3(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.3(SCARB2):c.746A>G (p.Asn249Ser) rs199837910
NM_005506.3(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.3(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.3(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095
NM_005506.3(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.3(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.3(SCARB2):c.911A>G (p.Asn304Ser) rs150870503
NM_005506.3(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_005506.3(SCARB2):c.919G>A (p.Asp307Asn) rs142392473
NM_005506.3(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005670.3(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.3(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.3(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.3(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.3(EPM2A):c.148G>A (p.Gly50Arg) rs753397854
NM_005670.3(EPM2A):c.157G>A (p.Ala53Thr) rs763719276
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.3(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993
NM_005670.3(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.3(EPM2A):c.208G>C (p.Glu70Gln) rs550455609
NM_005670.3(EPM2A):c.210G>A (p.Glu70=) rs878854780
NM_005670.3(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.3(EPM2A):c.241G>A (p.Val81Met) rs747386643
NM_005670.3(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.3(EPM2A):c.272G>A (p.Arg91Gln)
NM_005670.3(EPM2A):c.323G>A (p.Arg108His) rs202234583
NM_005670.3(EPM2A):c.332C>G (p.Thr111Ser)
NM_005670.3(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.3(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.3(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.3(EPM2A):c.410A>G (p.Asn137Ser) rs61757376
NM_005670.3(EPM2A):c.427A>G (p.Thr143Ala)
NM_005670.3(EPM2A):c.446T>C (p.Ile149Thr) rs796052430
NM_005670.3(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.3(EPM2A):c.490A>G (p.Ile164Val)
NM_005670.3(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.3(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.3(EPM2A):c.569T>A (p.Met190Lys) rs191406622
NM_005670.3(EPM2A):c.600G>T (p.Gln200His) rs142658692
NM_005670.3(EPM2A):c.631C>A (p.Pro211Thr)
NM_005670.3(EPM2A):c.632C>T (p.Pro211Leu)
NM_005670.3(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.3(EPM2A):c.644A>T (p.Asp215Val) rs144565191
NM_005670.3(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.3(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.3(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.3(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.3(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.3(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.3(EPM2A):c.719-2A>T rs772082648
NM_005670.3(EPM2A):c.719-4G>A rs145030227
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.3(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.3(EPM2A):c.731T>G (p.Met244Arg)
NM_005670.3(EPM2A):c.743C>T (p.Ala248Val) rs374043005
NM_005670.3(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.3(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.3(EPM2A):c.825G>A (p.Ala275=) rs762115387
NM_005670.3(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.3(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.3(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.3(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005670.3(EPM2A):c.904G>A (p.Ala302Thr) rs755742563
NM_005670.3(EPM2A):c.92G>A (p.Arg31His)
NM_005670.3(EPM2A):c.94T>A (p.Trp32Arg)
NM_005670.3(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.3(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_006493.2(CLN5):c.101C>G (p.Pro34Arg) rs937545860
NM_006493.2(CLN5):c.1051A>G (p.Lys351Glu) rs1060502320
NM_006493.2(CLN5):c.1082T>C (p.Phe361Ser)
NM_006493.2(CLN5):c.1103_1106delAACA (p.Lys368Serfs) rs386833967
NM_006493.2(CLN5):c.1166A>C (p.Lys389Thr) rs745767054
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.1188T>C (p.Pro396=) rs36038805
NM_006493.2(CLN5):c.1192C>T (p.Pro398Ser) rs41287036
NM_006493.2(CLN5):c.1221A>T (p.Leu407Phe) rs1555274416
NM_006493.2(CLN5):c.134C>T (p.Thr45Ile) rs768714949
NM_006493.2(CLN5):c.152C>T (p.Ala51Val) rs146993892
NM_006493.2(CLN5):c.166A>G (p.Thr56Ala) rs541501705
NM_006493.2(CLN5):c.178G>T (p.Ala60Ser) rs563306322
NM_006493.2(CLN5):c.208C>T (p.Arg70Trp) rs376454715
NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) rs104894385
NM_006493.2(CLN5):c.234C>G (p.Ala78=) rs138037471
NM_006493.2(CLN5):c.253G>C (p.Ala85Pro) rs778982551
NM_006493.2(CLN5):c.259_260insATCCGGGCTGG (p.Val87Aspfs) rs1555273604
NM_006493.2(CLN5):c.25C>T (p.Pro9Ser)
NM_006493.2(CLN5):c.261T>C (p.Val87=) rs1453178211
NM_006493.2(CLN5):c.263C>T (p.Pro88Leu) rs1285996011
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.334delC (p.Arg112Valfs) rs1555273881
NM_006493.2(CLN5):c.335G>A (p.Arg112His) rs104894386
NM_006493.2(CLN5):c.35G>T (p.Gly12Val)
NM_006493.2(CLN5):c.371C>T (p.Thr124Ile) rs376336781
NM_006493.2(CLN5):c.412G>A (p.Asp138Asn) rs138110438
NM_006493.2(CLN5):c.451T>G (p.Trp151Gly)
NM_006493.2(CLN5):c.486+6G>A rs1468101
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.518G>A (p.Ser173Asn) rs369122820
NM_006493.2(CLN5):c.528T>G (p.Thr176=) rs34481987
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.571G>C (p.Gly191Arg) rs201464545
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
NM_006493.2(CLN5):c.606G>A (p.Met202Ile) rs144656959
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.2(CLN5):c.62C>T (p.Pro21Leu) rs988786332
NM_006493.2(CLN5):c.633C>T (p.Gly211=)
NM_006493.2(CLN5):c.637G>T (p.Ala213Ser)
NM_006493.2(CLN5):c.647T>C (p.Phe216Ser) rs1393893027
NM_006493.2(CLN5):c.652G>A (p.Gly218Arg) rs1420822940
NM_006493.2(CLN5):c.65G>T (p.Arg22Leu) rs576642281
NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) rs386833979
NM_006493.2(CLN5):c.673A>G (p.Lys225Glu) rs142870036
NM_006493.2(CLN5):c.697G>A (p.Val233Ile)
NM_006493.2(CLN5):c.712+3_712+4dup rs745312608
NM_006493.2(CLN5):c.713_*1548del
NM_006493.2(CLN5):c.716A>G (p.Asn239Ser) rs369100769
NM_006493.2(CLN5):c.721T>G (p.Phe241Val) rs1555274325
NM_006493.2(CLN5):c.74T>C (p.Leu25Pro) rs1182554801
NM_006493.2(CLN5):c.786T>A (p.Asn262Lys)
NM_006493.2(CLN5):c.789A>T (p.Val263=) rs751496223
NM_006493.2(CLN5):c.7C>T (p.Arg3Trp) rs759859373
NM_006493.2(CLN5):c.801A>C (p.Pro267=) rs752406072
NM_006493.2(CLN5):c.803A>C (p.Glu268Ala) rs11842935
NM_006493.2(CLN5):c.851T>C (p.Val284Ala) rs535755345
NM_006493.2(CLN5):c.852G>A (p.Val284=) rs116531784
NM_006493.2(CLN5):c.924_925delAT (p.Phe309Serfs) rs786204644
NM_006493.2(CLN5):c.959A>G (p.Asn320Ser) rs199609750
NM_006493.3(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.3(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_015973.4(GAL):c.106C>T (p.Leu36=) rs528520052
NM_015973.4(GAL):c.137-2A>G
NM_015973.4(GAL):c.140C>T (p.Ala47Val) rs374472664
NM_015973.4(GAL):c.177C>G (p.Gly59=) rs533111349
NM_015973.4(GAL):c.178C>T (p.Leu60Phe)
NM_015973.4(GAL):c.199C>T (p.Arg67Trp) rs200075890
NM_015973.4(GAL):c.205G>A (p.Glu69Lys) rs571107777
NM_015973.4(GAL):c.253A>G (p.Asn85Asp) rs145825008
NM_015973.4(GAL):c.263G>A (p.Arg88His) rs778530092
NM_015973.4(GAL):c.306C>T (p.Ala102=) rs147122838
NM_015973.4(GAL):c.361G>A (p.Glu121Lys) rs139127322
NM_015973.4(GAL):c.364C>T (p.Arg122Trp) rs36058701
NM_015973.4(GAL):c.43G>A (p.Ala15Thr)
NM_015973.4(GAL):c.47C>T (p.Ala16Val) rs34725707
NM_015973.4(GAL):c.55T>C (p.Ser19Pro) rs746008445
NM_015973.4(GAL):c.66G>A (p.Ala22=) rs542684427
NM_017882.2(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.2(CLN6):c.115C>T (p.Arg39Cys)
NM_017882.2(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.2(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.2(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.2(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.2(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.2(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.2(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.2(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.2(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.2(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.2(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.2(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.2(CLN6):c.298-6C>T rs117038427
NM_017882.2(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.2(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.2(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.2(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.2(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.2(CLN6):c.371C>T (p.Ala124Val)
NM_017882.2(CLN6):c.395_396delCT (p.Ser132Cysfs) rs774543080
NM_017882.2(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.2(CLN6):c.41G>A (p.Gly14Asp)
NM_017882.2(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.2(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.2(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017882.2(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.2(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.2(CLN6):c.522G>A (p.Glu174=) rs753538013
NM_017882.2(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.2(CLN6):c.543-9C>T rs374653673
NM_017882.2(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.2(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.2(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.2(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.2(CLN6):c.61G>A (p.Gly21Ser)
NM_017882.2(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.2(CLN6):c.634C>T (p.Leu212Phe)
NM_017882.2(CLN6):c.649A>G (p.Ser217Gly)
NM_017882.2(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.2(CLN6):c.666-5T>A rs1401270931
NM_017882.2(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.2(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.2(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.2(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.2(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.2(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.2(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.2(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.2(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.2(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.2(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.2(CLN6):c.929G>A (p.Arg310Gln)
NM_018100.3(EFHC1):c.1047A>G (p.Pro349=) rs1163603161
NM_018100.3(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.3(EFHC1):c.1059G>A (p.Arg353=) rs200024100
NM_018100.3(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.3(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.3(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142
NM_018100.3(EFHC1):c.1155C>T (p.Asn385=) rs115913738
NM_018100.3(EFHC1):c.1180G>A (p.Ala394Thr)
NM_018100.3(EFHC1):c.1221dupA (p.Asp408Argfs) rs754483740
NM_018100.3(EFHC1):c.1224C>T (p.Asp408=) rs116134831
NM_018100.3(EFHC1):c.125G>A (p.Arg42His) rs773598517
NM_018100.3(EFHC1):c.1279-9C>T rs143254681
NM_018100.3(EFHC1):c.1293A>C (p.Pro431=) rs1554261597
NM_018100.3(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138
NM_018100.3(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.3(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171
NM_018100.3(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252
NM_018100.3(EFHC1):c.1396T>G (p.Tyr466Asp)
NM_018100.3(EFHC1):c.1492+1G>A rs191404037
NM_018100.3(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.3(EFHC1):c.1549_1559delGAGAGCAACGCinsTTTTGAAATACA (p.Glu517Phefs) rs1554261668
NM_018100.3(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.3(EFHC1):c.1562C>G (p.Ala521Gly)
NM_018100.3(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784
NM_018100.3(EFHC1):c.1607G>C (p.Arg536Pro)
NM_018100.3(EFHC1):c.1641-6C>G rs1554262183
NM_018100.3(EFHC1):c.165C>G (p.Asn55Lys)
NM_018100.3(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.3(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.3(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.3(EFHC1):c.1768G>C (p.Ala590Pro)
NM_018100.3(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.3(EFHC1):c.1815G>A (p.Ser605=) rs1045298708
NM_018100.3(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262
NM_018100.3(EFHC1):c.1841_1851+13del rs775583843
NM_018100.3(EFHC1):c.1852-6C>G rs372507832
NM_018100.3(EFHC1):c.1866C>T (p.Cys622=) rs1554262324
NM_018100.3(EFHC1):c.187G>A (p.Asp63Asn) rs750083920
NM_018100.3(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841
NM_018100.3(EFHC1):c.1893C>T (p.Tyr631=) rs35648306
NM_018100.3(EFHC1):c.210A>G (p.Pro70=) rs145367062
NM_018100.3(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.3(EFHC1):c.241C>T (p.Pro81Ser)
NM_018100.3(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.3(EFHC1):c.266A>G (p.His89Arg) rs543160745
NM_018100.3(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.3(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.3(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.3(EFHC1):c.484C>T (p.His162Tyr) rs112800954
NM_018100.3(EFHC1):c.526A>G (p.Ile176Val)
NM_018100.3(EFHC1):c.547G>A (p.Val183Ile) rs769591944
NM_018100.3(EFHC1):c.558_559delTG (p.Cys186Terfs)
NM_018100.3(EFHC1):c.564A>G (p.Gln188=) rs766444850
NM_018100.3(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018100.3(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.3(EFHC1):c.637A>T (p.Thr213Ser)
NM_018100.3(EFHC1):c.64-5T>C rs201860746
NM_018100.3(EFHC1):c.647G>A (p.Arg216Gln) rs77682973
NM_018100.3(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.3(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.3(EFHC1):c.666_674delGTATGTCACinsAAG (p.Tyr223_Thr225delinsSer) rs1554259746
NM_018100.3(EFHC1):c.678A>T (p.Pro226=) rs1060504898
NM_018100.3(EFHC1):c.682_692delGACTTTGATCA (p.Asp228Thrfs) rs775980459
NM_018100.3(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018100.3(EFHC1):c.68C>T (p.Thr23Ile) rs779993809
NM_018100.3(EFHC1):c.731G>A (p.Arg244Gln) rs140476054
NM_018100.3(EFHC1):c.749A>T (p.Asp250Val)
NM_018100.3(EFHC1):c.797A>G (p.Tyr266Cys)
NM_018100.3(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018100.3(EFHC1):c.879C>G (p.Asn293Lys)
NM_018100.3(EFHC1):c.880C>T (p.Arg294Cys)
NM_018100.3(EFHC1):c.881G>A (p.Arg294His) rs1570624
NM_018100.3(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.3(EFHC1):c.896A>G (p.Lys299Arg)
NM_018100.3(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.3(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_018100.3(EFHC1):c.916A>G (p.Lys306Glu) rs201263733
NM_018100.3(EFHC1):c.97T>C (p.Tyr33His) rs374402088
NM_018941.3(CLN8):c.106T>A (p.Leu36Met) rs1554448978
NM_018941.3(CLN8):c.108G>C (p.Leu36Phe) rs746677418
NM_018941.3(CLN8):c.117T>G (p.Phe39Leu)
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.126C>T (p.Cys42=) rs192196274
NM_018941.3(CLN8):c.140C>T (p.Ser47Phe)
NM_018941.3(CLN8):c.15C>T (p.Ser5=) rs374597781
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.207G>A (p.Thr69=) rs368365607
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.246G>A (p.Leu82=) rs144015378
NM_018941.3(CLN8):c.273G>A (p.Leu91=) rs878855052
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.279C>T (p.Ala93=) rs372313992
NM_018941.3(CLN8):c.290G>A (p.Arg97His) rs116605307
NM_018941.3(CLN8):c.324G>A (p.Thr108=) rs148124161
NM_018941.3(CLN8):c.331A>G (p.Thr111Ala)
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.385C>T (p.Arg129Trp) rs143694317
NM_018941.3(CLN8):c.386G>A (p.Arg129Gln) rs571617007
NM_018941.3(CLN8):c.406G>T (p.Val136Phe) rs187297173
NM_018941.3(CLN8):c.408T>A (p.Val136=) rs535963507
NM_018941.3(CLN8):c.53A>T (p.Tyr18Phe) rs142104002
NM_018941.3(CLN8):c.545C>T (p.Ala182Val) rs541994118
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.59C>G (p.Ser20Cys) rs749651452
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.614T>C (p.Met205Thr) rs763967636
NM_018941.3(CLN8):c.619C>G (p.Leu207Val) rs151334741
NM_018941.3(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.3(CLN8):c.666G>A (p.Leu222=) rs532934034
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018941.3(CLN8):c.697C>G (p.Leu233Val) rs1380901432
NM_018941.3(CLN8):c.703delC (p.Val236Serfs) rs761621368
NM_018941.3(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.3(CLN8):c.725C>T (p.Thr242Met) rs138821993
NM_018941.3(CLN8):c.726G>A (p.Thr242=) rs200529220
NM_018941.3(CLN8):c.776A>G (p.Asn259Ser) rs201956727
NM_018941.3(CLN8):c.777T>C (p.Asn259=) rs34814682
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.3(CLN8):c.788G>A (p.Trp263Ter) rs878855053
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_018941.3(CLN8):c.823G>C (p.Glu275Gln) rs749774943
NM_018941.3(CLN8):c.832G>A (p.Gly278Arg)
NM_018941.3(CLN8):c.94T>C (p.Phe32Leu) rs758068226
NM_020226.3(PRDM8):c.1050C>T (p.Cys350=) rs374280707
NM_020226.3(PRDM8):c.1137C>A (p.Gly379=) rs144810863
NM_020226.3(PRDM8):c.1147C>T (p.Arg383Cys)
NM_020226.3(PRDM8):c.117T>C (p.Ala39=) rs369098269
NM_020226.3(PRDM8):c.1210G>A (p.Ala404Thr)
NM_020226.3(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_020226.3(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_020226.3(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_020226.3(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_020226.3(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_020226.3(PRDM8):c.1436G>A (p.Gly479Asp)
NM_020226.3(PRDM8):c.1447G>T (p.Ala483Ser) rs544862921
NM_020226.3(PRDM8):c.1450G>A (p.Gly484Ser)
NM_020226.3(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_020226.3(PRDM8):c.1468C>G (p.Gln490Glu)
NM_020226.3(PRDM8):c.1474G>A (p.Ala492Thr)
NM_020226.3(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_020226.3(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_020226.3(PRDM8):c.1643A>G (p.Lys548Arg)
NM_020226.3(PRDM8):c.164T>A (p.Ile55Lys)
NM_020226.3(PRDM8):c.1650G>C (p.Gln550His)
NM_020226.3(PRDM8):c.1651G>A (p.Gly551Arg)
NM_020226.3(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_020226.3(PRDM8):c.1683C>T (p.Ser561=) rs150632206
NM_020226.3(PRDM8):c.1726C>T (p.Leu576=) rs28405693
NM_020226.3(PRDM8):c.1778_1795delCTGCGGCGGCGGCCGCGG (p.Ala593_Ala598del) rs755316101
NM_020226.3(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_020226.3(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_020226.3(PRDM8):c.1857G>T (p.Leu619=) rs140737026
NM_020226.3(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_020226.3(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_020226.3(PRDM8):c.2057C>G (p.Thr686Ser)
NM_020226.3(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_020226.3(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_020226.3(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_020226.3(PRDM8):c.506C>T (p.Pro169Leu)
NM_020226.3(PRDM8):c.543A>T (p.Arg181Ser)
NM_020226.3(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_020226.3(PRDM8):c.649_651dup (p.Gln217_Glu218insGln) rs748593482
NM_020226.3(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_020226.3(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_020226.3(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_020226.3(PRDM8):c.722C>A (p.Pro241Gln) rs200010979
NM_020226.3(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_020226.3(PRDM8):c.850_861delAGCAGCGGTAGC (p.Ser284_Ser287del) rs1455395711
NM_020226.3(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_020226.3(PRDM8):c.972C>T (p.Gly324=) rs528863020
NM_020226.3(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_020226.3(PRDM8):c.987G>T (p.Leu329=) rs6831357
NM_020226.3(PRDM8):c.998G>T (p.Arg333Leu)
NM_020361.4(CPA6):c.1021A>G (p.Ile341Val) rs766177388
NM_020361.4(CPA6):c.1026C>G (p.Pro342=) rs372964579
NM_020361.4(CPA6):c.1077G>A (p.Gln359=) rs143536122
NM_020361.4(CPA6):c.107G>T (p.Arg36Leu)
NM_020361.4(CPA6):c.1087G>A (p.Gly363Arg) rs368528528
NM_020361.4(CPA6):c.116+5G>C rs1281394588
NM_020361.4(CPA6):c.1199G>A (p.Arg400His) rs746177954
NM_020361.4(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.4(CPA6):c.1271C>T (p.Ala424Val) rs72654981
NM_020361.4(CPA6):c.127A>G (p.Ile43Val)
NM_020361.4(CPA6):c.290T>C (p.Phe97Ser)
NM_020361.4(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.4(CPA6):c.494T>C (p.Ile165Thr) rs1487624789
NM_020361.4(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.4(CPA6):c.534+4A>G rs766728291
NM_020361.4(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.4(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.4(CPA6):c.636+5G>A
NM_020361.4(CPA6):c.637-3T>C rs138798669
NM_020361.4(CPA6):c.707C>T (p.Pro236Leu) rs201552815
NM_020361.4(CPA6):c.757T>C (p.Trp253Arg) rs781369203
NM_020361.4(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020361.4(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.4(CPA6):c.791G>A (p.Arg264His) rs752555064
NM_020361.4(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020361.4(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020361.4(CPA6):c.861T>C (p.Pro287=) rs1186379773
NM_020361.4(CPA6):c.916G>A (p.Val306Ile) rs147046973
NM_020361.4(CPA6):c.931C>T (p.Arg311Ter) rs139145929
NM_020361.4(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020361.4(CPA6):c.975A>G (p.Ala325=) rs138313759
NM_020822.2(KCNT1):c.1008C>T (p.Cys336=) rs540422455
NM_020822.2(KCNT1):c.1038C>T (p.Phe346=) rs767434859
NM_020822.2(KCNT1):c.1056C>G (p.Leu352=) rs116691849
NM_020822.2(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252
NM_020822.2(KCNT1):c.1077_1078delAG (p.Gly361Glnfs) rs796214553
NM_020822.2(KCNT1):c.10C>T (p.Pro4Ser)
NM_020822.2(KCNT1):c.1104G>A (p.Ala368=) rs146032445
NM_020822.2(KCNT1):c.1119C>T (p.His373=) rs1052932341
NM_020822.2(KCNT1):c.1134C>T (p.Val378=) rs149960236
NM_020822.2(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021
NM_020822.2(KCNT1):c.116C>T (p.Pro39Leu) rs201051863
NM_020822.2(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.2(KCNT1):c.1182C>T (p.Tyr394=) rs372491855
NM_020822.2(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.2(KCNT1):c.1201-5G>A
NM_020822.2(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838
NM_020822.2(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.2(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.2(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.2(KCNT1):c.130G>T (p.Gly44Cys) rs773228285
NM_020822.2(KCNT1):c.1326_1327delCAinsAT (p.Met443Leu) rs1554773537
NM_020822.2(KCNT1):c.1337+7G>A rs374975940
NM_020822.2(KCNT1):c.1338-3C>T rs369562243
NM_020822.2(KCNT1):c.1365C>T (p.Ile455=) rs1305510057
NM_020822.2(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.2(KCNT1):c.1380C>T (p.Asn460=) rs566700584
NM_020822.2(KCNT1):c.1390C>T (p.Arg464Cys)
NM_020822.2(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.2(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.2(KCNT1):c.1431C>T (p.Ala477=) rs375534850
NM_020822.2(KCNT1):c.1443C>T (p.Phe481=) rs576446992
NM_020822.2(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745
NM_020822.2(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.2(KCNT1):c.1511-4G>A rs368480443
NM_020822.2(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.2(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.2(KCNT1):c.1572G>A (p.Pro524=) rs113333501
NM_020822.2(KCNT1):c.1614C>T (p.Arg538=) rs368876173
NM_020822.2(KCNT1):c.1619+6T>A rs1328836350
NM_020822.2(KCNT1):c.1626A>G (p.Gly542=) rs537431085
NM_020822.2(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.2(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306
NM_020822.2(KCNT1):c.1638G>A (p.Pro546=) rs138352399
NM_020822.2(KCNT1):c.1645T>G (p.Trp549Gly)
NM_020822.2(KCNT1):c.1672G>T (p.Gly558Cys)
NM_020822.2(KCNT1):c.1698_1699delGGinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.2(KCNT1):c.1700G>T (p.Gly567Val) rs781375160
NM_020822.2(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.2(KCNT1):c.1725C>T (p.Tyr575=) rs373520472
NM_020822.2(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.2(KCNT1):c.1769+8C>T rs371287985
NM_020822.2(KCNT1):c.1769+9G>A rs758402819
NM_020822.2(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.2(KCNT1):c.1788C>T (p.Ile596=) rs373444768
NM_020822.2(KCNT1):c.1803G>A (p.Glu601=) rs376892911
NM_020822.2(KCNT1):c.1806C>T (p.Asp602=) rs1060505001
NM_020822.2(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.2(KCNT1):c.1879A>G (p.Ile627Val) rs143355299
NM_020822.2(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.2(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.2(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.2(KCNT1):c.191T>G (p.Leu64Trp)
NM_020822.2(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.2(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.2(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470
NM_020822.2(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066
NM_020822.2(KCNT1):c.1947G>A (p.Ser649=) rs779903423
NM_020822.2(KCNT1):c.1952A>G (p.Gln651Arg)
NM_020822.2(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.2(KCNT1):c.1983C>T (p.Pro661=) rs533528985
NM_020822.2(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.2(KCNT1):c.2008+10G>C rs752453368
NM_020822.2(KCNT1):c.2008+7C>T rs372707698
NM_020822.2(KCNT1):c.2008+8G>A rs759334176
NM_020822.2(KCNT1):c.2020A>G (p.Met674Val) rs753401695
NM_020822.2(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.2(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.2(KCNT1):c.2039A>G (p.Glu680Gly)
NM_020822.2(KCNT1):c.2044C>T (p.Arg682Trp)
NM_020822.2(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.2(KCNT1):c.2049T>C (p.Pro683=) rs1234688449
NM_020822.2(KCNT1):c.2051C>T (p.Thr684Met) rs377506738
NM_020822.2(KCNT1):c.2058C>T (p.Ser686=) rs111647144
NM_020822.2(KCNT1):c.2061_2066delCGGTGG (p.Gly691_Gly692del) rs754629346
NM_020822.2(KCNT1):c.2062G>A (p.Gly688Ser)
NM_020822.2(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.2(KCNT1):c.2096C>T (p.Thr699Met)
NM_020822.2(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.2(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711
NM_020822.2(KCNT1):c.2136C>T (p.Pro712=) rs377516058
NM_020822.2(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.2(KCNT1):c.2170_2184dup (p.Leu728_Ser729insProCysAspLeuLeu) rs757605635
NM_020822.2(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.2(KCNT1):c.2188G>A (p.Asp730Asn)
NM_020822.2(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889
NM_020822.2(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
NM_020822.2(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.2(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797
NM_020822.2(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065
NM_020822.2(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.2(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.2(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.2(KCNT1):c.2236G>A (p.Val746Met) rs559344618
NM_020822.2(KCNT1):c.2295C>T (p.Thr765=) rs765278495
NM_020822.2(KCNT1):c.231C>T (p.Asp77=) rs370998066
NM_020822.2(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.2(KCNT1):c.2332_2334delTGC (p.Cys778del) rs1390654782
NM_020822.2(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.2(KCNT1):c.2349+7C>T rs190849453
NM_020822.2(KCNT1):c.2350-10C>T rs367855961
NM_020822.2(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.2(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.2(KCNT1):c.2430C>T (p.Ala810=) rs139114208
NM_020822.2(KCNT1):c.2435A>G (p.Asn812Ser)
NM_020822.2(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.2(KCNT1):c.2454C>T (p.Ile818=) rs149452823
NM_020822.2(KCNT1):c.2503G>A (p.Val835Met)
NM_020822.2(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.2(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.2(KCNT1):c.2568C>T (p.Val856=) rs1554777911
NM_020822.2(KCNT1):c.2585C>G (p.Ser862Cys)
NM_020822.2(KCNT1):c.2594+7C>T rs545094921
NM_020822.2(KCNT1):c.2619C>T (p.Gly873=) rs144659358
NM_020822.2(KCNT1):c.2670C>T (p.Ser890=) rs765403435
NM_020822.2(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.2(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.2(KCNT1):c.2691G>A (p.Ala897=) rs142642528
NM_020822.2(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.2(KCNT1):c.2729+9A>G rs12005420
NM_020822.2(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.2(KCNT1):c.2757G>A (p.Thr919=) rs775752475
NM_020822.2(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.2(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210
NM_020822.2(KCNT1):c.279C>T (p.Asn93=) rs183022730
NM_020822.2(KCNT1):c.2841+10C>T rs765179799
NM_020822.2(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.2(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403
NM_020822.2(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.2(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.2(KCNT1):c.2856T>C (p.Asn952=) rs147671362
NM_020822.2(KCNT1):c.2869G>T (p.Ala957Ser)
NM_020822.2(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.2(KCNT1):c.2895C>T (p.Ala965=) rs776550763
NM_020822.2(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.2(KCNT1):c.2898C>T (p.Ala966=) rs762968242
NM_020822.2(KCNT1):c.2903G>A (p.Arg968His) rs1325608473
NM_020822.2(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.2(KCNT1):c.2943+6C>T rs28612938
NM_020822.2(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.2(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006
NM_020822.2(KCNT1):c.2994G>A (p.Leu998=) rs143198263
NM_020822.2(KCNT1):c.2997C>T (p.Asp999=) rs771951768
NM_020822.2(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.2(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.2(KCNT1):c.3006G>A (p.Pro1002=) rs377162900
NM_020822.2(KCNT1):c.3012G>A (p.Ser1004=)
NM_020822.2(KCNT1):c.3015G>T (p.Gly1005=) rs368875875
NM_020822.2(KCNT1):c.3036C>T (p.Ile1012=) rs201120894
NM_020822.2(KCNT1):c.3039C>T (p.Thr1013=) rs148001061
NM_020822.2(KCNT1):c.3048C>T (p.Asp1016=) rs748942066
NM_020822.2(KCNT1):c.3063G>A (p.Thr1021=) rs760974671
NM_020822.2(KCNT1):c.309G>T (p.Leu103=) rs767894239
NM_020822.2(KCNT1):c.30G>A (p.Pro10=) rs139034501
NM_020822.2(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.2(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184
NM_020822.2(KCNT1):c.3138C>T (p.His1046=) rs138533589
NM_020822.2(KCNT1):c.3147C>T (p.Ser1049=) rs765432746
NM_020822.2(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.2(KCNT1):c.3157-8C>T rs371874401
NM_020822.2(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253
NM_020822.2(KCNT1):c.3172G>A (p.Ala1058Thr)
NM_020822.2(KCNT1):c.3196G>A (p.Val1066Met)
NM_020822.2(KCNT1):c.3218G>C (p.Arg1073Pro)
NM_020822.2(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.2(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.2(KCNT1):c.3246C>T (p.Arg1082=) rs765774534
NM_020822.2(KCNT1):c.3252C>T (p.Gly1084=)
NM_020822.2(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.2(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695
NM_020822.2(KCNT1):c.3275G>A (p.Arg1092His) rs369576806
NM_020822.2(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.2(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.2(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.2(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.2(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518
NM_020822.2(KCNT1):c.32G>A (p.Gly11Glu)
NM_020822.2(KCNT1):c.3312G>A (p.Leu1104=) rs149416418
NM_020822.2(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614
NM_020822.2(KCNT1):c.333G>A (p.Ser111=) rs56008253
NM_020822.2(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.2(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066
NM_020822.2(KCNT1):c.3371C>T (p.Ala1124Val)
NM_020822.2(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.2(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.2(KCNT1):c.3387C>T (p.Ala1129=) rs372410150
NM_020822.2(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.2(KCNT1):c.3390G>A (p.Ala1130=) rs77912754
NM_020822.2(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283
NM_020822.2(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.2(KCNT1):c.3437G>A (p.Arg1146His) rs368339692
NM_020822.2(KCNT1):c.3461A>G (p.Lys1154Arg) rs779810960
NM_020822.2(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.2(KCNT1):c.3495C>T (p.Thr1165=) rs374429090
NM_020822.2(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.2(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.2(KCNT1):c.3555G>T (p.Pro1185=) rs144068763
NM_020822.2(KCNT1):c.3588-3C>T
NM_020822.2(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.2(KCNT1):c.3606C>T (p.Asp1202=) rs140628824
NM_020822.2(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.2(KCNT1):c.3618C>T (p.His1206=) rs577378740
NM_020822.2(KCNT1):c.3619G>A (p.Val1207Met)
NM_020822.2(KCNT1):c.3622G>A (p.Ala1208Thr)
NM_020822.2(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.2(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.2(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.2(KCNT1):c.3664C>T (p.Leu1222=) rs755694160
NM_020822.2(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534
NM_020822.2(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.2(KCNT1):c.3681C>T (p.Pro1227=) rs149049198
NM_020822.2(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.2(KCNT1):c.3688C>T (p.Arg1230Cys)
NM_020822.2(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.2(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.2(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316
NM_020822.2(KCNT1):c.385C>A (p.Leu129Ile)
NM_020822.2(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.2(KCNT1):c.400G>A (p.Val134Ile) rs766663683
NM_020822.2(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.2(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.2(KCNT1):c.47A>T (p.Glu16Val) rs755980218
NM_020822.2(KCNT1):c.50C>T (p.Ala17Val) rs377687237
NM_020822.2(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.2(KCNT1):c.541-7C>A rs1489319809
NM_020822.2(KCNT1):c.57C>T (p.Gly19=)
NM_020822.2(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020822.2(KCNT1):c.600+5G>A
NM_020822.2(KCNT1):c.626G>A (p.Arg209His)
NM_020822.2(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.2(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.2(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.2(KCNT1):c.760-9C>T rs1554771446
NM_020822.2(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.2(KCNT1):c.82_85delGAGTinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.2(KCNT1):c.851C>T (p.Thr284Met) rs376583438
NM_020822.2(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.2(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.2(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.2(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.2(KCNT1):c.909_910delCTinsGA (p.Ser304Thr) rs1060503697
NM_020822.2(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.2(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.2(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.2(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.2(KCNT1):c.951C>T (p.Tyr317=) rs747685419
NM_020822.2(KCNT1):c.957C>T (p.Asp319=) rs148562086
NM_020822.2(KCNT1):c.968A>G (p.Lys323Arg)
NM_020822.2(KCNT1):c.978A>G (p.Pro326=) rs61739517
NM_020822.2(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.2(KCNT1):c.985C>T (p.Leu329=) rs147165522
NM_020822.2(KCNT1):c.99A>G (p.Gln33=) rs146152956
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_021267.4(CERS1):c.1011-2A>G rs771873576
NM_021267.4(CERS1):c.1018C>G (p.Leu340Val) rs774114834
NM_021267.4(CERS1):c.164T>A (p.Leu55Gln) rs918114133
NM_021267.4(CERS1):c.16C>A (p.Pro6Thr) rs1041161328
NM_021267.4(CERS1):c.178C>T (p.Leu60=) rs760185006
NM_021267.4(CERS1):c.181C>A (p.Leu61Met)
NM_021267.4(CERS1):c.23C>G (p.Ala8Gly)
NM_021267.4(CERS1):c.257C>T (p.Ala86Val) rs374895377
NM_021267.4(CERS1):c.258G>A (p.Ala86=) rs1038592004
NM_021267.4(CERS1):c.37C>T (p.Pro13Ser) rs868136098
NM_021267.4(CERS1):c.398C>T (p.Ser133Phe) rs1555707050
NM_021267.4(CERS1):c.419C>T (p.Pro140Leu)
NM_021267.4(CERS1):c.429A>G (p.Ala143=) rs200107216
NM_021267.4(CERS1):c.437G>A (p.Arg146Gln) rs201005099
NM_021267.4(CERS1):c.450C>T (p.Ala150=) rs201106410
NM_021267.4(CERS1):c.477T>C (p.Tyr159=) rs1426719277
NM_021267.4(CERS1):c.492C>T (p.Tyr164=) rs45601540
NM_021267.4(CERS1):c.550G>T (p.Val184Leu) rs374308521
NM_021267.4(CERS1):c.559C>G (p.Leu187Val) rs772627907
NM_021267.4(CERS1):c.582C>T (p.Tyr194=) rs779941388
NM_021267.4(CERS1):c.590+9A>G rs200695801
NM_021267.4(CERS1):c.685G>A (p.Gly229Ser)
NM_021267.4(CERS1):c.708T>A (p.His236Gln) rs902153714
NM_021267.4(CERS1):c.742G>A (p.Gly248Ser)
NM_021267.4(CERS1):c.787G>A (p.Val263Ile) rs200539084
NM_021267.4(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.4(CERS1):c.851T>C (p.Phe284Ser)
NM_021267.4(CERS1):c.857C>T (p.Ala286Val) rs559340743
NM_021267.4(CERS1):c.898C>T (p.Leu300=) rs373928623
NM_021267.4(CERS1):c.901-3C>A rs1464119106
NM_021267.4(CERS1):c.906C>T (p.Ile302=) rs377364343
NM_025219.2(DNAJC5):c.107+10C>T rs181906972
NM_025219.2(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.2(DNAJC5):c.144C>T (p.Pro48=) rs113987077
NM_025219.2(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.2(DNAJC5):c.161C>T (p.Ala54Val)
NM_025219.2(DNAJC5):c.204G>A (p.Thr68=) rs1002205118
NM_025219.2(DNAJC5):c.207C>T (p.Asp69=) rs760881795
NM_025219.2(DNAJC5):c.228C>T (p.Tyr76=) rs201495666
NM_025219.2(DNAJC5):c.238G>A (p.Gly80Ser) rs1555879996
NM_025219.2(DNAJC5):c.242C>T (p.Ser81Leu)
NM_025219.2(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.2(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.2(DNAJC5):c.321+8C>T rs773607766
NM_025219.2(DNAJC5):c.322-5C>G rs373568941
NM_025219.2(DNAJC5):c.322G>T (p.Ala108Ser)
NM_025219.2(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.2(DNAJC5):c.339C>T (p.Cys113=) rs886043295
NM_025219.2(DNAJC5):c.342C>T (p.Gly114=) rs746279787
NM_025219.2(DNAJC5):c.346_348delCTC (p.Leu116del) rs587776892
NM_025219.2(DNAJC5):c.419C>T (p.Ala140Val) rs144915847
NM_025219.2(DNAJC5):c.420G>A (p.Ala140=) rs568985915
NM_025219.2(DNAJC5):c.456C>T (p.Pro152=) rs140326040
NM_025219.2(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.2(DNAJC5):c.491G>A (p.Arg164Lys) rs762961919
NM_025219.2(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.2(DNAJC5):c.509C>T (p.Pro170Leu)
NM_025219.2(DNAJC5):c.525G>A (p.Pro175=) rs373237152
NM_025219.2(DNAJC5):c.532G>A (p.Ala178Thr)
NM_025219.2(DNAJC5):c.561C>T (p.Asp187=) rs776807695
NM_025219.2(DNAJC5):c.75C>T (p.Asn25=) rs189308547
NM_032737.3(LMNB2):c.1029C>T (p.Ala343=) rs749052582
NM_032737.3(LMNB2):c.1091G>A (p.Arg364Gln) rs767615829
NM_032737.3(LMNB2):c.1198G>T (p.Glu400Ter) rs1555683015
NM_032737.3(LMNB2):c.11C>T (p.Pro4Leu)
NM_032737.3(LMNB2):c.1202+4C>G
NM_032737.3(LMNB2):c.1221C>A (p.Ser407Arg) rs766553520
NM_032737.3(LMNB2):c.1231C>T (p.Arg411Cys)
NM_032737.3(LMNB2):c.1244C>T (p.Ser415Leu) rs201335788
NM_032737.3(LMNB2):c.1247G>T (p.Arg416Leu) rs200293412
NM_032737.3(LMNB2):c.1256C>G (p.Ser419Trp) rs368949581
NM_032737.3(LMNB2):c.1256C>T (p.Ser419Leu)
NM_032737.3(LMNB2):c.1298G>A (p.Arg433His)
NM_032737.3(LMNB2):c.1312C>T (p.Arg438Trp) rs780728738
NM_032737.3(LMNB2):c.1332C>T (p.Pro444=) rs998616364
NM_032737.3(LMNB2):c.1344C>T (p.Gly448=) rs144665669
NM_032737.3(LMNB2):c.1351G>A (p.Val451Ile)
NM_032737.3(LMNB2):c.1363G>C (p.Gly455Arg) rs772769360
NM_032737.3(LMNB2):c.1403C>G (p.Ala468Gly) rs766297775
NM_032737.3(LMNB2):c.1554G>C (p.Thr518=) rs11882908
NM_032737.3(LMNB2):c.1570C>T (p.Arg524Cys)
NM_032737.3(LMNB2):c.1575C>T (p.Ala525=) rs140216957
NM_032737.3(LMNB2):c.157C>T (p.Leu53Phe) rs1555684976
NM_032737.3(LMNB2):c.1682G>T (p.Arg561Leu) rs145444042
NM_032737.3(LMNB2):c.1698C>T (p.Asn566=) rs147619532
NM_032737.3(LMNB2):c.1699G>A (p.Ala567Thr) rs760189690
NM_032737.3(LMNB2):c.1707C>T (p.Gly569=) rs372581793
NM_032737.3(LMNB2):c.1776G>A (p.Glu592=) rs1555682686
NM_032737.3(LMNB2):c.177C>A (p.His59Gln)
NM_032737.3(LMNB2):c.1821+4G>A rs779811801
NM_032737.3(LMNB2):c.1822-12_1822-5dup rs542821471
NM_032737.3(LMNB2):c.255C>G (p.Thr85=) rs201524951
NM_032737.3(LMNB2):c.264+7G>T rs748398790
NM_032737.3(LMNB2):c.273C>T (p.Gly91=) rs1163719792
NM_032737.3(LMNB2):c.347G>A (p.Arg116Gln) rs370820384
NM_032737.3(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_032737.3(LMNB2):c.418G>A (p.Gly140Ser)
NM_032737.3(LMNB2):c.428C>T (p.Thr143Met) rs375961613
NM_032737.3(LMNB2):c.440G>A (p.Gly147Asp) rs768416033
NM_032737.3(LMNB2):c.443G>A (p.Arg148His) rs779429811
NM_032737.3(LMNB2):c.457G>A (p.Glu153Lys)
NM_032737.3(LMNB2):c.477C>A (p.Ser159Arg) rs923000484
NM_032737.3(LMNB2):c.512G>A (p.Arg171His)
NM_032737.3(LMNB2):c.514G>A (p.Gly172Ser) rs145110937
NM_032737.3(LMNB2):c.558+5G>A rs747264492
NM_032737.3(LMNB2):c.574G>T (p.Ala192Ser) rs112419003
NM_032737.3(LMNB2):c.575C>T (p.Ala192Val)
NM_032737.3(LMNB2):c.658G>C (p.Asp220His)
NM_032737.3(LMNB2):c.685-8G>A
NM_032737.3(LMNB2):c.691C>T (p.Arg231Trp) rs760267703
NM_032737.3(LMNB2):c.700C>T (p.Arg234Trp) rs148936043
NM_032737.3(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_032737.3(LMNB2):c.712G>A (p.Glu238Lys)
NM_032737.3(LMNB2):c.742C>T (p.Arg248Trp)
NM_032737.3(LMNB2):c.804C>T (p.Asp268=) rs150969746
NM_032737.3(LMNB2):c.815G>A (p.Arg272Gln) rs142557433
NM_032737.3(LMNB2):c.855+8C>T rs375918278
NM_032737.3(LMNB2):c.856-8C>T rs766316644
NM_032737.3(LMNB2):c.906G>A (p.Ala302=) rs144417417
NM_032737.3(LMNB2):c.982-4G>A rs370025312
NM_152778.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.2(MFSD8):c.1036delG (p.Val346Leufs) rs1439582451
NM_152778.2(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.2(MFSD8):c.1066C>A (p.Pro356Thr)
NM_152778.2(MFSD8):c.1086delC (p.Ile364Tyrfs)
NM_152778.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852
NM_152778.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038
NM_152778.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_152778.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961
NM_152778.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.2(MFSD8):c.1320A>G (p.Leu440=) rs148864710
NM_152778.2(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763
NM_152778.2(MFSD8):c.1351-9C>A rs75039907
NM_152778.2(MFSD8):c.1351-9C>T rs75039907
NM_152778.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_152778.2(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_152778.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.2(MFSD8):c.1445G>A (p.Arg482Gln)
NM_152778.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.2(MFSD8):c.1475T>C (p.Ile492Thr)
NM_152778.2(MFSD8):c.151G>T (p.Val51Leu) rs1408300356
NM_152778.2(MFSD8):c.155-9delT rs1060504501
NM_152778.2(MFSD8):c.18C>G (p.Asn6Lys)
NM_152778.2(MFSD8):c.199-8T>C rs112721309
NM_152778.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.2(MFSD8):c.270T>A (p.Ala90=) rs754809138
NM_152778.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749
NM_152778.2(MFSD8):c.316C>T (p.Pro106Ser) rs757793193
NM_152778.2(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.2(MFSD8):c.373C>T (p.His125Tyr)
NM_152778.2(MFSD8):c.37C>T (p.Leu13Phe)
NM_152778.2(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330
NM_152778.2(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.2(MFSD8):c.440-2A>T rs751696703
NM_152778.2(MFSD8):c.529G>A (p.Ala177Thr)
NM_152778.2(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.2(MFSD8):c.592G>A (p.Val198Met) rs377029630
NM_152778.2(MFSD8):c.63-4C>T rs764964269
NM_152778.2(MFSD8):c.63-4delC rs755011754
NM_152778.2(MFSD8):c.64G>T (p.Glu22Ter)
NM_152778.2(MFSD8):c.656T>C (p.Phe219Ser) rs112734134
NM_152778.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594
NM_152778.2(MFSD8):c.689C>T (p.Ala230Val) rs375681665
NM_152778.2(MFSD8):c.707G>A (p.Arg236His)
NM_152778.2(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_152778.2(MFSD8):c.78A>G (p.Leu26=) rs770986122
NM_152778.2(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_152778.2(MFSD8):c.813C>T (p.Ala271=) rs768499490
NM_152778.2(MFSD8):c.832G>A (p.Val278Met) rs796052743
NM_152778.2(MFSD8):c.840A>G (p.Leu280=) rs199982542
NM_152778.2(MFSD8):c.864-6dup rs200526922
NM_152778.2(MFSD8):c.886G>A (p.Asp296Asn) rs147295085
NM_152778.2(MFSD8):c.961G>A (p.Val321Ile) rs76506918
NM_152778.2(MFSD8):c.998+4A>G rs796052745
NM_152778.2(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312
NM_153026.2(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190
NM_153026.2(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.2(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619
NM_153026.2(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.2(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763
NM_153026.2(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.2(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.2(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.2(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296
NM_153026.2(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.2(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609
NM_153026.2(PRICKLE1):c.139delC (p.Leu47Serfs) rs1555230922
NM_153026.2(PRICKLE1):c.1412T>C (p.Met471Thr)
NM_153026.2(PRICKLE1):c.1413_1414delGTinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.2(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.2(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.2(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.2(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.2(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425
NM_153026.2(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064
NM_153026.2(PRICKLE1):c.1609A>G (p.Met537Val)
NM_153026.2(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.2(PRICKLE1):c.1639+5G>A rs201450953
NM_153026.2(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.2(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261
NM_153026.2(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.2(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.2(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.2(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609
NM_153026.2(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.2(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717
NM_153026.2(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.2(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.2(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.2(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.2(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.2(PRICKLE1):c.2155C>T (p.Arg719Trp)
NM_153026.2(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265
NM_153026.2(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.2(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.2(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.2(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632
NM_153026.2(PRICKLE1):c.2278_2280delGAT (p.Asp760del)
NM_153026.2(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.2(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342
NM_153026.2(PRICKLE1):c.2324A>G (p.Glu775Gly)
NM_153026.2(PRICKLE1):c.2380T>C (p.Tyr794His)
NM_153026.2(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.2(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088
NM_153026.2(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.2(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.2(PRICKLE1):c.249A>G (p.Val83=) rs763029790
NM_153026.2(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
NM_153026.2(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.2(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.2(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866
NM_153026.2(PRICKLE1):c.400A>C (p.Asn134His) rs200558941
NM_153026.2(PRICKLE1):c.423C>T (p.Phe141=) rs746728526
NM_153026.2(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984
NM_153026.2(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.2(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.2(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.2(PRICKLE1):c.448T>C (p.Cys150Arg)
NM_153026.2(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.2(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839
NM_153026.2(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.2(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.2(PRICKLE1):c.509A>G (p.Tyr170Cys)
NM_153026.2(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.2(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504
NM_153026.2(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749
NM_153026.2(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148
NM_153026.2(PRICKLE1):c.72T>G (p.Asp24Glu)
NM_153026.2(PRICKLE1):c.743C>T (p.Ala248Val)
NM_153026.2(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.2(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.2(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.2(PRICKLE1):c.861T>C (p.Ser287=) rs537302175
NM_153026.2(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.2(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.2(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552
NM_153033.4(KCTD7):c.104_115delCCACGCAGGCGG (p.Ala35_Ala38del)
NM_153033.4(KCTD7):c.133C>T (p.Leu45=) rs587780370
NM_153033.4(KCTD7):c.145-4C>T rs368755155
NM_153033.4(KCTD7):c.14C>G (p.Thr5Arg) rs1346070646
NM_153033.4(KCTD7):c.15G>C (p.Thr5=) rs1410806588
NM_153033.4(KCTD7):c.172G>A (p.Gly58Arg) rs750033880
NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) rs201296399
NM_153033.4(KCTD7):c.192A>G (p.Thr64=) rs142526573
NM_153033.4(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.4(KCTD7):c.250C>T (p.Arg84Trp) rs754476100
NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) rs149255570
NM_153033.4(KCTD7):c.264C>T (p.Pro88=) rs985251877
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.314+1G>A rs1554397834
NM_153033.4(KCTD7):c.361C>T (p.Arg121Cys) rs199604642
NM_153033.4(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) rs199624315
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.398C>T (p.Ala133Val)
NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) rs781725855
NM_153033.4(KCTD7):c.411C>T (p.Leu137=) rs374072904
NM_153033.4(KCTD7):c.417G>A (p.Glu139=) rs1554300872
NM_153033.4(KCTD7):c.422_424dup (p.Leu141_Glu142insVal)
NM_153033.4(KCTD7):c.456G>A (p.Val152=) rs796052686
NM_153033.4(KCTD7):c.458G>A (p.Arg153His)
NM_153033.4(KCTD7):c.465G>A (p.Ala155=) rs773209661
NM_153033.4(KCTD7):c.506G>A (p.Arg169Gln) rs745917176
NM_153033.4(KCTD7):c.507G>C (p.Arg169=) rs142379946
NM_153033.4(KCTD7):c.534G>A (p.Ala178=) rs773060529
NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) rs387907246
NM_153033.4(KCTD7):c.594C>G (p.Pro198=) rs749192199
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153033.4(KCTD7):c.687T>C (p.Asp229=) rs372150992
NM_153033.4(KCTD7):c.750G>C (p.Thr250=) rs374256335
NM_153033.4(KCTD7):c.769C>G (p.Leu257Val) rs1554300955
NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994
NM_153033.4(KCTD7):c.790A>C (p.Ile264Leu) rs763830869
NM_153033.4(KCTD7):c.796G>T (p.Val266Leu)
NM_198586.2(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.2(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.2(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.2(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.2(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.2(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.2(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.2(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.2(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.2(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.2(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.2(NHLRC1):c.406C>T (p.Pro136Ser)
NM_198586.2(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.2(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.2(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.2(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.2(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.2(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.2(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.2(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.2(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.2(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.2(NHLRC1):c.874A>T (p.Thr292Ser)
NM_198586.2(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.2(NHLRC1):c.969C>T (p.Ser323=) rs142941035
NM_198586.2(NHLRC1):c.990G>A (p.Gln330=) rs148553723
NM_198859.3(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584
NM_198859.3(PRICKLE2):c.1132A>G (p.Met378Val)
NM_198859.3(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989
NM_198859.3(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952
NM_198859.3(PRICKLE2):c.1318G>A (p.Glu440Lys)
NM_198859.3(PRICKLE2):c.144+10T>C rs74535153
NM_198859.3(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095
NM_198859.3(PRICKLE2):c.1528G>A (p.Glu510Lys)
NM_198859.3(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.3(PRICKLE2):c.1561C>T (p.Arg521Cys)
NM_198859.3(PRICKLE2):c.1573A>G (p.Ser525Gly)
NM_198859.3(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281
NM_198859.3(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200
NM_198859.3(PRICKLE2):c.1994T>C (p.Met665Thr) rs200223474
NM_198859.3(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646
NM_198859.3(PRICKLE2):c.215G>A (p.Arg72Gln)
NM_198859.3(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.3(PRICKLE2):c.2433C>G (p.His811Gln)
NM_198859.3(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.3(PRICKLE2):c.397-8C>T rs762192312
NM_198859.3(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804
NM_198859.3(PRICKLE2):c.438G>A (p.Ala146=) rs149786687
NM_198859.3(PRICKLE2):c.444C>T (p.Arg148=) rs146538069
NM_198859.3(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796
NM_198859.3(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606
NM_198859.3(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.3(PRICKLE2):c.471G>A (p.Pro157=) rs777067889
NM_198859.3(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206
NM_198859.3(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.3(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.3(PRICKLE2):c.594C>T (p.Cys198=) rs367680077
NM_198859.3(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.3(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.3(PRICKLE2):c.72G>A (p.Ser24=) rs888655219
NM_198859.3(PRICKLE2):c.741C>G (p.Phe247Leu)
NM_198859.3(PRICKLE2):c.788-6T>C rs180903875

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