ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by Invitae

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3508
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HGVS dbSNP
NC_000001.10:g.(?_160011163)_(160111132_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.12:g.(?_73603231)_(73609622_?)del
NC_000003.11:g.(?_128198104)_(128205221_?)dup
NC_000003.11:g.(?_128198104)_(128205874_?)dup
NC_000003.11:g.(?_128199862)_(128205874_?)dup
NC_000003.11:g.(?_128202693)_(128205884_?)dup
NC_000003.12:g.(?_128481009)_(128487041_?)dup
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NC_000005.9:g.(?_140052489)_(140072312_?)del
NC_000005.9:g.(?_140059894_140070834del
NC_000005.9:g.140059894_140070834del
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NC_000010.10:g.(?_73079047)_(73082831_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19743226)_(19755855_?)dup
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.11:g.(?_29603989)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29654651)_(29654731_?)del
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753185)_(13787232_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554
NM_000268.4(NF2):c.100G>C (p.Glu34Gln)
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr) rs780430071
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser)
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys) rs747756728
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
NM_000268.4(NF2):c.1066T>A (p.Leu356Met)
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.114+4A>G
NM_000268.4(NF2):c.114+4A>T
NM_000268.4(NF2):c.114+6C>T
NM_000268.4(NF2):c.115A>G (p.Met39Val)
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu)
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser)
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466
NM_000268.4(NF2):c.1256C>T (p.Thr419Met)
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) rs763826793
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337
NM_000268.4(NF2):c.1301A>G (p.Glu434Gly) rs1601648832
NM_000268.4(NF2):c.1303G>T (p.Val435Leu) rs772334382
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
NM_000268.4(NF2):c.133G>A (p.Asp45Asn)
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
NM_000268.4(NF2):c.1341G>A (p.Arg447=)
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr)
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu)
NM_000268.4(NF2):c.1370A>T (p.Asp457Val)
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg)
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys)
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu)
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
NM_000268.4(NF2):c.1442A>G (p.Tyr481Cys)
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1446+5G>T
NM_000268.4(NF2):c.1446+6C>G
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.4(NF2):c.1447-9C>G
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala)
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr) rs1601658904
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922
NM_000268.4(NF2):c.1480G>C (p.Asp494His)
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.4(NF2):c.1488A>C (p.Pro496=)
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser)
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.4(NF2):c.1511G>A (p.Ser504Asn) rs756366940
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile)
NM_000268.4(NF2):c.1517C>G (p.Ser506Cys) rs970051210
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
NM_000268.4(NF2):c.1540A>C (p.Met514Leu)
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
NM_000268.4(NF2):c.1575-6C>G
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
NM_000268.4(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.4(NF2):c.157A>G (p.Thr53Ala) rs1601578990
NM_000268.4(NF2):c.1585A>G (p.Met529Val)
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.162G>A (p.Leu54=)
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
NM_000268.4(NF2):c.1660A>T (p.Arg554Trp)
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747
NM_000268.4(NF2):c.1685A>G (p.His562Arg)
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly) rs1318481716
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
NM_000268.4(NF2):c.1720C>T (p.His574Tyr)
NM_000268.4(NF2):c.1721A>C (p.His574Pro)
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu)
NM_000268.4(NF2):c.1733A>G (p.Lys578Arg)
NM_000268.4(NF2):c.1735A>C (p.Lys579Gln)
NM_000268.4(NF2):c.1737+5C>T
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600
NM_000268.4(NF2):c.1769C>T (p.Ala590Val)
NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del)
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240
NM_000268.4(NF2):c.1A>G (p.Met1Val)
NM_000268.4(NF2):c.208G>C (p.Asp70His)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.222G>T (p.Trp74Cys)
NM_000268.4(NF2):c.223C>A (p.Leu75Ile)
NM_000268.4(NF2):c.22C>T (p.Arg8Cys)
NM_000268.4(NF2):c.240+6G>A
NM_000268.4(NF2):c.240+6G>C
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
NM_000268.4(NF2):c.251A>G (p.His84Arg)
NM_000268.4(NF2):c.253G>C (p.Asp85His)
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
NM_000268.4(NF2):c.271C>A (p.Pro91Thr) rs1555987645
NM_000268.4(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.4(NF2):c.272C>G (p.Pro91Arg)
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923
NM_000268.4(NF2):c.300T>A (p.Phe100Leu) rs1555987677
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.305C>G (p.Pro102Arg) rs1601583679
NM_000268.4(NF2):c.311A>C (p.Asn104Thr)
NM_000268.4(NF2):c.319G>A (p.Glu107Lys)
NM_000268.4(NF2):c.326T>C (p.Leu109Pro) rs1601583740
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys)
NM_000268.4(NF2):c.332A>C (p.Gln111Pro)
NM_000268.4(NF2):c.337A>C (p.Ile113Leu)
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
NM_000268.4(NF2):c.364-3C>T
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His)
NM_000268.4(NF2):c.376A>G (p.Ile126Val)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del) rs1351718417
NM_000268.4(NF2):c.400C>T (p.Pro134Ser) rs1555988776
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.440A>C (p.Gln147Pro)
NM_000268.4(NF2):c.447+6C>T
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.495A>G (p.Gln165=) rs1601611991
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.499G>C (p.Glu167Gln)
NM_000268.4(NF2):c.504G>C (p.Leu168Phe)
NM_000268.4(NF2):c.506T>C (p.Leu169Pro)
NM_000268.4(NF2):c.50A>G (p.Lys17Arg)
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731
NM_000268.4(NF2):c.516G>A (p.Arg172=)
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.4(NF2):c.524A>G (p.Asn175Ser)
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.4(NF2):c.598A>G (p.Arg200Gly)
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.599+6G>T
NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
NM_000268.4(NF2):c.602A>T (p.Asp201Val) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.647T>C (p.Met216Thr)
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377
NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
NM_000268.4(NF2):c.675+6T>C
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.67A>C (p.Thr23Pro)
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573
NM_000268.4(NF2):c.69C>G (p.Thr23=)
NM_000268.4(NF2):c.709G>C (p.Asp237His)
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.731A>G (p.Tyr244Cys)
NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
NM_000268.4(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.4(NF2):c.73A>G (p.Arg25Gly)
NM_000268.4(NF2):c.73A>T (p.Arg25Trp)
NM_000268.4(NF2):c.743A>G (p.Asn248Ser)
NM_000268.4(NF2):c.749T>A (p.Leu250Gln) rs1432132718
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.758A>G (p.Lys253Arg) rs773573049
NM_000268.4(NF2):c.769C>T (p.Pro257Ser)
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935
NM_000268.4(NF2):c.772T>G (p.Trp258Gly) rs1601624186
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
NM_000268.4(NF2):c.789C>A (p.Asn263Lys)
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
NM_000268.4(NF2):c.810+6A>G
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.820A>G (p.Lys274Glu)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.851A>G (p.Lys284Arg) rs764034925
NM_000268.4(NF2):c.857A>G (p.Asn286Ser)
NM_000268.4(NF2):c.85A>G (p.Met29Val)
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.872G>T (p.Arg291Leu)
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
NM_000268.4(NF2):c.886-3C>T
NM_000268.4(NF2):c.896T>C (p.Leu299Pro)
NM_000268.4(NF2):c.89A>G (p.Asp30Gly)
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.4(NF2):c.916C>G (p.Leu306Val)
NM_000268.4(NF2):c.922A>G (p.Met308Val)
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.4(NF2):c.93C>A (p.Ala31=)
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
NM_000268.4(NF2):c.999G>C (p.Gln333His)
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe)
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro)
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=) rs368565759
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser)
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125
NM_000414.4(HSD17B4):c.303-11T>A
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr)
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1140+5G>A
NM_000503.6(EYA1):c.1474C>T (p.Arg492Trp)
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg) rs1554594182
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del) rs1563621870
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)
NM_000503.6(EYA1):c.418+3G>C rs1554550269
NM_001110219.3(GJB6):c.228del (p.Trp77fs)
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val)
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu)
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn)
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
NM_001110556.2(FLNA):c.108GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr)
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=)
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125
NM_001110556.2(FLNA):c.1430-3C>T
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) rs868994092
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) rs782539251
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1616G>C (p.Gly539Ala)
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln)
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met)
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) rs781852373
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1692-3C>T
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=)
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) rs1603362451
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434
NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn)
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) rs374295965
NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) rs1380007907
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524
NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)
NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln)
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) rs781840723
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) rs1603362223
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu)
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) rs1336740117
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2267A>G (p.Asn756Ser)
NM_001110556.2(FLNA):c.2281-3C>A rs1603361933
NM_001110556.2(FLNA):c.2281-6_2281-2dup
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly)
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
NM_001110556.2(FLNA):c.2405-17_2405-3del
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly)
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) rs1347740802
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr)
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
NM_001110556.2(FLNA):c.2566-6C>A
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
NM_001110556.2(FLNA):c.2659G>T (p.Val887Phe)
NM_001110556.2(FLNA):c.2687C>T (p.Thr896Ile)
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu)
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202
NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu)
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) rs375495397
NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp)
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val)
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041
NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg)
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala)
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.305T>G (p.Met102Arg)
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His)
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) rs782406278
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) rs1222602089
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu)
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) rs868975259
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly) rs1557177743
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) rs1396701849
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) rs781861717
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg)
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr)
NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser)
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val)
NM_001110556.2(FLNA):c.3920C>T (p.Thr1307Ile)
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) rs782412141
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg) rs1557177601
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu)
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) rs782342052
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=)
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) rs1603360869
NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser)
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu)
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val)
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=)
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile)
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) rs192337215
NM_001110556.2(FLNA):c.4303+7_4303+9del
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val) rs201886752
NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser) rs374447840
NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala)
NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg)
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile) rs188943867
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) rs782276039
NM_001110556.2(FLNA):c.4474+3G>A
NM_001110556.2(FLNA):c.4475-15TGGGGC[3]
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4495G>A (p.Val1499Met)
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) rs782597696
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462
NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile)
NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly)
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) rs1181500076
NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=)
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.473A>G (p.Glu158Gly)
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831
NM_001110556.2(FLNA):c.4774A>G (p.Lys1592Glu)
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) rs782314291
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) rs782082407
NM_001110556.2(FLNA):c.4855C>T (p.Leu1619Phe)
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) rs863223639
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met) rs1381802174
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His)
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=)
NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu)
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
NM_001110556.2(FLNA):c.5242G>A (p.Val1748Met) rs1020587429
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253
NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe) rs1557176515
NM_001110556.2(FLNA):c.5281T>A (p.Tyr1761Asn)
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
NM_001110556.2(FLNA):c.5416+5G>A
NM_001110556.2(FLNA):c.5416+6T>G
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) rs782134110
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys)
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser)
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) rs781794030
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) rs782359458
NM_001110556.2(FLNA):c.5860+3G>A
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys) rs10458342
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu)
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) rs782401919
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg)
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His) rs1557176118
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser) rs1603363256
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) rs1223954254
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) rs781956012
NM_001110556.2(FLNA):c.622+6G>A
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
NM_001110556.2(FLNA):c.623-10T>A
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) rs781860863
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) rs968230475
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) rs1569551477
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) rs782722036
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His) rs377052615
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met)
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341
NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp)
NM_001110556.2(FLNA):c.6502+8C>G rs1603359201
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr)
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu) rs1603359155
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766
NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser)
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740
NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys)
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys) rs1603358960
NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys) rs782129661
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) rs1557175818
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=)
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)
NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) rs377274096
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu)
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646
NM_001110556.2(FLNA):c.7023+7C>T
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys)
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) rs1557175657
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) rs864622713
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) rs1164930154
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp) rs1164930154
NM_001110556.2(FLNA):c.7108A>G (p.Ser2370Gly)
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) rs371563857
NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr)
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu) rs782645927
NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp)
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp) rs1557175461
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.720+4C>T
NM_001110556.2(FLNA):c.720+5A>T
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro) rs1603358629
NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile) rs782811927
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) rs1557175387
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) rs1460574102
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) rs373103712
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) rs878854464
NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys)
NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser)
NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) rs782190081
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val) rs971390304
NM_001110556.2(FLNA):c.7526G>A (p.Gly2509Asp)
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) rs886038966
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) rs1603358284
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val) rs782637786
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.781C>G (p.Leu261Val)
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His)
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly) rs1430045418
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) rs1172505050
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile) rs1603363939
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly) rs1064816
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly)
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)
NM_001130823.3(DNMT1):c.1028C>T (p.Thr343Met)
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) rs370592431
NM_001130823.3(DNMT1):c.1046C>T (p.Thr349Met)
NM_001130823.3(DNMT1):c.1051A>C (p.Lys351Gln)
NM_001130823.3(DNMT1):c.1051A>G (p.Lys351Glu) rs749001465
NM_001130823.3(DNMT1):c.1063C>T (p.Arg355Cys)
NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) rs201945078
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) rs529074384
NM_001130823.3(DNMT1):c.1066G>T (p.Ala356Ser) rs529074384
NM_001130823.3(DNMT1):c.1096C>A (p.Pro366Thr)
NM_001130823.3(DNMT1):c.1100C>T (p.Pro367Leu)
NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) rs1316802867
NM_001130823.3(DNMT1):c.1156C>T (p.His386Tyr)
NM_001130823.3(DNMT1):c.1170+3A>G
NM_001130823.3(DNMT1):c.1170+5G>C rs745767142
NM_001130823.3(DNMT1):c.118-7C>G rs1599397601
NM_001130823.3(DNMT1):c.1195A>G (p.Asn399Asp)
NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser) rs1599371457
NM_001130823.3(DNMT1):c.1280G>A (p.Ser427Asn)
NM_001130823.3(DNMT1):c.1281T>C (p.Ser427=) rs1555691724
NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) rs1403539644
NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val) rs979325432
NM_001130823.3(DNMT1):c.1394T>C (p.Leu465Pro) rs1599368104
NM_001130823.3(DNMT1):c.1399+5G>A
NM_001130823.3(DNMT1):c.1399+6G>T
NM_001130823.3(DNMT1):c.1400-4del
NM_001130823.3(DNMT1):c.148C>T (p.His50Tyr)
NM_001130823.3(DNMT1):c.1492+1G>A
NM_001130823.3(DNMT1):c.1492+6T>C
NM_001130823.3(DNMT1):c.151G>A (p.Glu51Lys)
NM_001130823.3(DNMT1):c.1534G>T (p.Ala512Ser)
NM_001130823.3(DNMT1):c.163A>G (p.Thr55Ala)
NM_001130823.3(DNMT1):c.1642G>A (p.Glu548Lys) rs865891586
NM_001130823.3(DNMT1):c.1645-10C>A rs752563425
NM_001130823.3(DNMT1):c.1678C>T (p.Arg560Cys)
NM_001130823.3(DNMT1):c.1708G>A (p.Ala570Thr)
NM_001130823.3(DNMT1):c.172A>C (p.Lys58Gln)
NM_001130823.3(DNMT1):c.1750G>A (p.Gly584Arg)
NM_001130823.3(DNMT1):c.1757G>C (p.Ser586Thr)
NM_001130823.3(DNMT1):c.175A>G (p.Asn59Asp)
NM_001130823.3(DNMT1):c.1983G>T (p.Glu661Asp) rs781764761
NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) rs146467216
NM_001130823.3(DNMT1):c.2018A>G (p.Glu673Gly) rs1555691311
NM_001130823.3(DNMT1):c.2030A>G (p.Gln677Arg) rs1568232544
NM_001130823.3(DNMT1):c.205C>T (p.Arg69Cys)
NM_001130823.3(DNMT1):c.2068G>A (p.Val690Ile) rs1568232526
NM_001130823.3(DNMT1):c.206G>T (p.Arg69Leu)
NM_001130823.3(DNMT1):c.2090G>A (p.Arg697Gln)
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys) rs1029809799
NM_001130823.3(DNMT1):c.2108A>G (p.Gln703Arg) rs774333932
NM_001130823.3(DNMT1):c.2113C>T (p.Arg705Trp) rs766157757
NM_001130823.3(DNMT1):c.2152G>A (p.Asp718Asn)
NM_001130823.3(DNMT1):c.2211GAA[5] (p.Lys741dup) rs746346641
NM_001130823.3(DNMT1):c.225+4A>G rs1265807438
NM_001130823.3(DNMT1):c.2251G>A (p.Gly751Arg)
NM_001130823.3(DNMT1):c.2261T>G (p.Val754Gly)
NM_001130823.3(DNMT1):c.2288A>T (p.Tyr763Phe)
NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser) rs746687493
NM_001130823.3(DNMT1):c.229G>C (p.Gly77Arg)
NM_001130823.3(DNMT1):c.2309C>T (p.Ala770Val)
NM_001130823.3(DNMT1):c.2366C>T (p.Pro789Leu) rs1201583942
NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) rs1223065154
NM_001130823.3(DNMT1):c.2383G>A (p.Val795Ile) rs1555690511
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met)
NM_001130823.3(DNMT1):c.2474C>T (p.Ser825Leu) rs1555690467
NM_001130823.3(DNMT1):c.2586G>A (p.Glu862=)
NM_001130823.3(DNMT1):c.2627G>A (p.Gly876Glu)
NM_001130823.3(DNMT1):c.2645A>G (p.Gln882Arg)
NM_001130823.3(DNMT1):c.2686C>T (p.Pro896Ser)
NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) rs746143694
NM_001130823.3(DNMT1):c.2711A>T (p.Asn904Ile) rs1287452669
NM_001130823.3(DNMT1):c.2721-10T>A rs377355204
NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) rs150863675
NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) rs910412179
NM_001130823.3(DNMT1):c.2801A>G (p.Asp934Gly)
NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln) rs763321599
NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) rs777416084
NM_001130823.3(DNMT1):c.2836G>T (p.Gly946Cys) rs777416084
NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met) rs754990148
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464
NM_001130823.3(DNMT1):c.2926C>T (p.Arg976Trp) rs1568226455
NM_001130823.3(DNMT1):c.2950C>A (p.Leu984Met) rs760683699
NM_001130823.3(DNMT1):c.2950C>G (p.Leu984Val)
NM_001130823.3(DNMT1):c.299A>G (p.Asn100Ser) rs1375073063
NM_001130823.3(DNMT1):c.3013G>A (p.Glu1005Lys)
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) rs369196079
NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) rs1401130665
NM_001130823.3(DNMT1):c.3032G>A (p.Arg1011Gln)
NM_001130823.3(DNMT1):c.3056A>G (p.Lys1019Arg)
NM_001130823.3(DNMT1):c.3067G>A (p.Gly1023Ser)
NM_001130823.3(DNMT1):c.3085G>C (p.Asp1029His)
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp)
NM_001130823.3(DNMT1):c.3116+3C>G rs1599351879
NM_001130823.3(DNMT1):c.3146C>T (p.Ala1049Val)
NM_001130823.3(DNMT1):c.3166A>T (p.Asn1056Tyr)
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser)
NM_001130823.3(DNMT1):c.316C>T (p.Arg106Cys) rs759600542
NM_001130823.3(DNMT1):c.3184G>C (p.Asp1062His)
NM_001130823.3(DNMT1):c.3207C>G (p.Phe1069Leu)
NM_001130823.3(DNMT1):c.3210G>A (p.Lys1070=)
NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys) rs140852137
NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) rs560179619
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147
NM_001130823.3(DNMT1):c.3277A>T (p.Met1093Leu)
NM_001130823.3(DNMT1):c.3278T>C (p.Met1093Thr)
NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) rs376894659
NM_001130823.3(DNMT1):c.3293G>A (p.Arg1098His) rs377078524
NM_001130823.3(DNMT1):c.332A>G (p.Asn111Ser)
NM_001130823.3(DNMT1):c.3352C>T (p.His1118Tyr) rs374676749
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.3(DNMT1):c.3358C>T (p.Arg1120Cys)
NM_001130823.3(DNMT1):c.3365C>G (p.Pro1122Arg)
NM_001130823.3(DNMT1):c.3394+4C>T
NM_001130823.3(DNMT1):c.3395-7C>A
NM_001130823.3(DNMT1):c.3395G>C (p.Gly1132Ala)
NM_001130823.3(DNMT1):c.3401G>A (p.Gly1134Asp) rs770370709
NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) rs554894511
NM_001130823.3(DNMT1):c.3428C>T (p.Pro1143Leu)
NM_001130823.3(DNMT1):c.3432C>T (p.Ser1144=)
NM_001130823.3(DNMT1):c.3452A>G (p.Lys1151Arg)
NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup) rs1449036579
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456
NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) rs151305495
NM_001130823.3(DNMT1):c.3523+6C>T rs372240993
NM_001130823.3(DNMT1):c.3534C>A (p.Asp1178Glu)
NM_001130823.3(DNMT1):c.3536C>T (p.Thr1179Met)
NM_001130823.3(DNMT1):c.353G>T (p.Arg118Leu)
NM_001130823.3(DNMT1):c.355A>G (p.Arg119Gly)
NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser)
NM_001130823.3(DNMT1):c.3595G>A (p.Gly1199Ser)
NM_001130823.3(DNMT1):c.3659C>T (p.Thr1220Ile)
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.3(DNMT1):c.3677G>A (p.Arg1226Gln)
NM_001130823.3(DNMT1):c.3694G>A (p.Asp1232Asn)
NM_001130823.3(DNMT1):c.3714C>T (p.Gly1238=)
NM_001130823.3(DNMT1):c.374C>T (p.Ala125Val)
NM_001130823.3(DNMT1):c.3755A>G (p.Asn1252Ser)
NM_001130823.3(DNMT1):c.3785C>G (p.Ser1262Cys)
NM_001130823.3(DNMT1):c.3813C>T (p.Cys1271=)
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.3830G>A (p.Arg1277Gln) rs774073234
NM_001130823.3(DNMT1):c.3901C>T (p.Arg1301Cys) rs755492225
NM_001130823.3(DNMT1):c.3909G>A (p.Leu1303=) rs758806907
NM_001130823.3(DNMT1):c.3913C>T (p.Arg1305Cys)
NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) rs1057518769
NM_001130823.3(DNMT1):c.3929G>C (p.Cys1310Ser)
NM_001130823.3(DNMT1):c.3937G>A (p.Gly1313Ser)
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr)
NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) rs150774582
NM_001130823.3(DNMT1):c.4045G>A (p.Val1349Met)
NM_001130823.3(DNMT1):c.4061C>T (p.Ala1354Val)
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) rs775139340
NM_001130823.3(DNMT1):c.410C>G (p.Thr137Arg)
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699
NM_001130823.3(DNMT1):c.4112C>A (p.Thr1371Asn)
NM_001130823.3(DNMT1):c.413C>G (p.Pro138Arg)
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=)
NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln) rs757243017
NM_001130823.3(DNMT1):c.4184A>G (p.Asn1395Ser)
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) rs375225009
NM_001130823.3(DNMT1):c.4208_4210del (p.Ser1403del)
NM_001130823.3(DNMT1):c.4216G>A (p.Gly1406Arg) rs1568220739
NM_001130823.3(DNMT1):c.4236C>G (p.Phe1412Leu)
NM_001130823.3(DNMT1):c.4293+5T>C rs199506146
NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) rs1255037718
NM_001130823.3(DNMT1):c.4402G>T (p.Ala1468Ser)
NM_001130823.3(DNMT1):c.4414C>T (p.Arg1472Trp)
NM_001130823.3(DNMT1):c.4424A>G (p.His1475Arg)
NM_001130823.3(DNMT1):c.4426C>A (p.His1476Asn)
NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) rs765347113
NM_001130823.3(DNMT1):c.445C>A (p.Arg149Ser)
NM_001130823.3(DNMT1):c.445C>T (p.Arg149Cys)
NM_001130823.3(DNMT1):c.4460C>T (p.Ala1487Val)
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028
NM_001130823.3(DNMT1):c.4493G>T (p.Gly1498Val)
NM_001130823.3(DNMT1):c.4514C>G (p.Ala1505Gly)
NM_001130823.3(DNMT1):c.451A>G (p.Arg151Gly) rs779169075
NM_001130823.3(DNMT1):c.4630A>G (p.Thr1544Ala)
NM_001130823.3(DNMT1):c.470C>T (p.Ala157Val)
NM_001130823.3(DNMT1):c.4733C>G (p.Thr1578Ser)
NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln) rs1568218498
NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe) rs1568218491
NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys) rs1568217087
NM_001130823.3(DNMT1):c.4845A>T (p.Lys1615Asn)
NM_001130823.3(DNMT1):c.4849C>T (p.Arg1617Ter)
NM_001130823.3(DNMT1):c.4857T>G (p.Ser1619Arg)
NM_001130823.3(DNMT1):c.487A>G (p.Ile163Val)
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) rs1020363356
NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg) rs374440818
NM_001130823.3(DNMT1):c.548T>C (p.Ile183Thr)
NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) rs747559452
NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu)
NM_001130823.3(DNMT1):c.614C>G (p.Ser205Trp)
NM_001130823.3(DNMT1):c.614C>T (p.Ser205Leu) rs781646588
NM_001130823.3(DNMT1):c.637_639del (p.Asp213del)
NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) rs1245074338
NM_001130823.3(DNMT1):c.662G>A (p.Arg221His)
NM_001130823.3(DNMT1):c.692G>A (p.Arg231Lys) rs568861011
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156
NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) rs143598088
NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) rs771381056
NM_001130823.3(DNMT1):c.743A>G (p.Glu248Gly)
NM_001130823.3(DNMT1):c.762T>A (p.Asp254Glu)
NM_001130823.3(DNMT1):c.769-4T>G
NM_001130823.3(DNMT1):c.78G>C (p.Arg26Ser) rs780503694
NM_001130823.3(DNMT1):c.794C>T (p.Thr265Ile)
NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu) rs779634956
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=)
NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) rs368960099
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703
NM_001130823.3(DNMT1):c.874G>A (p.Glu292Lys) rs1257025095
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys)
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) rs201025441
NM_001130823.3(DNMT1):c.891+1G>A
NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) rs1568241116
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980
NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln)
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg)
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) rs148831705
NM_001130823.3(DNMT1):c.929C>T (p.Ala310Val)
NM_001130823.3(DNMT1):c.931G>T (p.Ala311Ser) rs1599375718
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp)
NM_001130823.3(DNMT1):c.938G>A (p.Arg313Gln) rs775360871
NM_001130823.3(DNMT1):c.946G>A (p.Glu316Lys)
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044
NM_001130823.3(DNMT1):c.97A>G (p.Arg33Gly)
NM_001130823.3(DNMT1):c.980T>A (p.Ile327Asn)
NM_001130823.3(DNMT1):c.997G>A (p.Glu333Lys)
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
NM_001145661.2(GATA2):c.1017+513G>A rs948289045
NM_001145661.2(GATA2):c.1017+527G>A rs1559985804
NM_001145661.2(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) rs1553770524
NM_001145661.2(GATA2):c.101T>C (p.Met34Thr) rs1576749857
NM_001145661.2(GATA2):c.1020G>A (p.Ser340=) rs370166358
NM_001145661.2(GATA2):c.1024G>A (p.Ala342Thr) rs751285156
NM_001145661.2(GATA2):c.1024G>T (p.Ala342Ser) rs751285156
NM_001145661.2(GATA2):c.1025C>T (p.Ala342Val) rs143554523
NM_001145661.2(GATA2):c.1036G>A (p.Gly346Ser) rs1559985135
NM_001145661.2(GATA2):c.1038C>T (p.Gly346=) rs1175250743
NM_001145661.2(GATA2):c.1064C>A (p.Thr355Lys) rs1060500085
NM_001145661.2(GATA2):c.1075T>G (p.Leu359Val) rs1060500091
NM_001145661.2(GATA2):c.1090G>A (p.Ala364Thr) rs766504293
NM_001145661.2(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_001145661.2(GATA2):c.1143T>C (p.Asn381=) rs1576745111
NM_001145661.2(GATA2):c.1144G>T (p.Val382Phe) rs1559984811
NM_001145661.2(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092
NM_001145661.2(GATA2):c.1160_1168del (p.Thr387_Lys389del) rs1553770444
NM_001145661.2(GATA2):c.1179C>G (p.Ile393Met) rs1553770437
NM_001145661.2(GATA2):c.11C>A (p.Ala4Glu) rs1576750043
NM_001145661.2(GATA2):c.1200G>A (p.Met400Ile) rs1060500086
NM_001145661.2(GATA2):c.1217A>T (p.Lys406Met) rs756096688
NM_001145661.2(GATA2):c.1230G>T (p.Gly410=) rs1461907039
NM_001145661.2(GATA2):c.1232C>A (p.Ala411Glu) rs374457534
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) rs374457534
NM_001145661.2(GATA2):c.1236G>T (p.Glu412Asp) rs1559984721
NM_001145661.2(GATA2):c.1238G>A (p.Cys413Tyr) rs1283468852
NM_001145661.2(GATA2):c.1242C>G (p.Phe414Leu) rs751577185
NM_001145661.2(GATA2):c.1243G>A (p.Glu415Lys) rs1345163538
NM_001145661.2(GATA2):c.1248G>C (p.Glu416Asp) rs1553770425
NM_001145661.2(GATA2):c.1263G>A (p.Met421Ile) rs1553770422
NM_001145661.2(GATA2):c.1273T>C (p.Ser425Pro) rs753159607
NM_001145661.2(GATA2):c.1274C>T (p.Ser425Leu) rs146554939
NM_001145661.2(GATA2):c.1282T>A (p.Phe428Ile) rs909675639
NM_001145661.2(GATA2):c.1300G>C (p.Ala434Pro) rs1576744335
NM_001145661.2(GATA2):c.1312G>T (p.Ala438Ser) rs768399393
NM_001145661.2(GATA2):c.1315C>T (p.Pro439Ser) rs1576744314
NM_001145661.2(GATA2):c.1320G>A (p.Val440=) rs775080624
NM_001145661.2(GATA2):c.1331C>T (p.Pro444Leu) rs781161922
NM_001145661.2(GATA2):c.1347C>A (p.Ser449=) rs150052821
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) rs370164300
NM_001145661.2(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_001145661.2(GATA2):c.1367C>T (p.Pro456Leu) rs372912472
NM_001145661.2(GATA2):c.136G>A (p.Asp46Asn) rs370750401
NM_001145661.2(GATA2):c.1370C>T (p.Thr457Met) rs139415862
NM_001145661.2(GATA2):c.1372C>T (p.Pro458Ser) rs1169516070
NM_001145661.2(GATA2):c.1385C>A (p.Ser462Tyr) rs1559984575
NM_001145661.2(GATA2):c.1391G>T (p.Ser464Ile) rs770949428
NM_001145661.2(GATA2):c.139G>A (p.Val47Ile) rs1553771139
NM_001145661.2(GATA2):c.1402G>A (p.Gly468Ser) rs777726701
NM_001145661.2(GATA2):c.1415C>T (p.Pro472Leu) rs779338723
NM_001145661.2(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_001145661.2(GATA2):c.142T>A (p.Phe48Ile) rs878855170
NM_001145661.2(GATA2):c.149A>G (p.Asn50Ser) rs1576749789
NM_001145661.2(GATA2):c.15_16delinsGC (p.Glu6Gln) rs1576750018
NM_001145661.2(GATA2):c.160T>G (p.Ser54Ala) rs1576749771
NM_001145661.2(GATA2):c.16G>A (p.Glu6Lys) rs760132552
NM_001145661.2(GATA2):c.176A>G (p.Tyr59Cys) rs140047487
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) rs375349195
NM_001145661.2(GATA2):c.206G>A (p.Arg69His) rs1457679310
NM_001145661.2(GATA2):c.224C>G (p.Ala75Gly) rs1559987952
NM_001145661.2(GATA2):c.227A>G (p.His76Arg) rs1576749657
NM_001145661.2(GATA2):c.23C>A (p.Pro8Gln) rs771557922
NM_001145661.2(GATA2):c.242G>C (p.Gly81Ala) rs1060500083
NM_001145661.2(GATA2):c.278C>A (p.Pro93Gln) rs1269493584
NM_001145661.2(GATA2):c.28T>C (p.Trp10Arg) rs1576749993
NM_001145661.2(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_001145661.2(GATA2):c.302G>A (p.Gly101Asp) rs1553771053
NM_001145661.2(GATA2):c.30G>T (p.Trp10Cys) rs367785289
NM_001145661.2(GATA2):c.310G>T (p.Ala104Ser) rs1060500089
NM_001145661.2(GATA2):c.311C>T (p.Ala104Val) rs760660470
NM_001145661.2(GATA2):c.327G>A (p.Ala109=) rs373506586
NM_001145661.2(GATA2):c.338A>G (p.His113Arg) rs1576749120
NM_001145661.2(GATA2):c.358C>T (p.Pro120Ser) rs144794596
NM_001145661.2(GATA2):c.371C>A (p.Thr124Lys) rs569301892
NM_001145661.2(GATA2):c.380A>G (p.His127Arg) rs1576749074
NM_001145661.2(GATA2):c.397G>A (p.Gly133Ser) rs1468344279
NM_001145661.2(GATA2):c.409C>T (p.Pro137Ser) rs113166293
NM_001145661.2(GATA2):c.40C>T (p.Pro14Ser) rs749214277
NM_001145661.2(GATA2):c.413T>C (p.Leu138Pro) rs746362966
NM_001145661.2(GATA2):c.419T>C (p.Val140Ala) rs1576749003
NM_001145661.2(GATA2):c.425C>T (p.Pro142Leu) rs1308814048
NM_001145661.2(GATA2):c.455G>A (p.Ser152Asn) rs1576748936
NM_001145661.2(GATA2):c.456C>A (p.Ser152Arg) rs750384699
NM_001145661.2(GATA2):c.457G>A (p.Gly153Arg) rs369637181
NM_001145661.2(GATA2):c.469G>T (p.Ala157Ser) rs1559987441
NM_001145661.2(GATA2):c.481C>T (p.Pro161Ser) rs34799090
NM_001145661.2(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_001145661.2(GATA2):c.495C>A (p.His165Gln) rs887833751
NM_001145661.2(GATA2):c.50T>A (p.Leu17Gln) rs777965976
NM_001145661.2(GATA2):c.523C>T (p.Pro175Ser) rs779526840
NM_001145661.2(GATA2):c.532C>T (p.Pro178Ser) rs757177579
NM_001145661.2(GATA2):c.539A>C (p.Glu180Ala) rs1028518743
NM_001145661.2(GATA2):c.541G>A (p.Val181Met) rs1060500093
NM_001145661.2(GATA2):c.560C>G (p.Thr187Ser) rs1553770972
NM_001145661.2(GATA2):c.567G>T (p.Gly189=) rs1293644494
NM_001145661.2(GATA2):c.568G>A (p.Ala190Thr) rs202162468
NM_001145661.2(GATA2):c.575C>T (p.Ser192Phe) rs773786765
NM_001145661.2(GATA2):c.592G>A (p.Ala198Thr) rs1576748685
NM_001145661.2(GATA2):c.593C>T (p.Ala198Val) rs745726293
NM_001145661.2(GATA2):c.596G>T (p.Gly199Val) rs780930549
NM_001145661.2(GATA2):c.599G>A (p.Gly200Asp) rs373477245
NM_001145661.2(GATA2):c.59A>C (p.Gln20Pro) rs1303947441
NM_001145661.2(GATA2):c.616G>C (p.Glu206Gln) rs1060500087
NM_001145661.2(GATA2):c.625G>A (p.Asp209Asn) rs998737902
NM_001145661.2(GATA2):c.628G>A (p.Gly210Ser) rs765555593
NM_001145661.2(GATA2):c.629_631dup (p.Gly210dup) rs1553770955
NM_001145661.2(GATA2):c.62A>T (p.His21Leu) rs1576749923
NM_001145661.2(GATA2):c.631G>C (p.Val211Leu) rs1060500088
NM_001145661.2(GATA2):c.636G>T (p.Lys212Asn) rs1576748594
NM_001145661.2(GATA2):c.654G>A (p.Thr218=) rs34632959
NM_001145661.2(GATA2):c.65C>G (p.Pro22Arg) rs1430054108
NM_001145661.2(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_001145661.2(GATA2):c.669G>A (p.Met223Ile) rs140382420
NM_001145661.2(GATA2):c.674G>A (p.Ser225Asn) rs146116228
NM_001145661.2(GATA2):c.682C>A (p.Pro228Thr) rs375298899
NM_001145661.2(GATA2):c.688C>T (p.Arg230Cys) rs769473824
NM_001145661.2(GATA2):c.689G>A (p.Arg230His) rs1265283318
NM_001145661.2(GATA2):c.706A>C (p.Met236Leu) rs746737860
NM_001145661.2(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_001145661.2(GATA2):c.707T>C (p.Met236Thr) rs61754578
NM_001145661.2(GATA2):c.70_71insTGT (p.Ser24_His25insLeu) rs1559988114
NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala) rs886057931
NM_001145661.2(GATA2):c.727C>T (p.His243Tyr) rs1576748504
NM_001145661.2(GATA2):c.729C>G (p.His243Gln) rs369673069
NM_001145661.2(GATA2):c.743C>T (p.Thr248Ile) rs1428619448
NM_001145661.2(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_001145661.2(GATA2):c.755A>G (p.Tyr252Cys) rs1060500090
NM_001145661.2(GATA2):c.761C>G (p.Pro254Arg) rs387906630
NM_001145661.2(GATA2):c.76C>A (p.His26Asn) rs1576749889
NM_001145661.2(GATA2):c.787G>A (p.Gly263Arg) rs587778378
NM_001145661.2(GATA2):c.803G>T (p.Gly268Val) rs1576748419
NM_001145661.2(GATA2):c.809T>G (p.Phe270Cys) rs776267955
NM_001145661.2(GATA2):c.815G>A (p.Gly272Glu) rs770511115
NM_001145661.2(GATA2):c.818G>T (p.Gly273Val) rs1559986940
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) rs141800945
NM_001145661.2(GATA2):c.832T>A (p.Phe278Ile) rs1449079964
NM_001145661.2(GATA2):c.848G>A (p.Arg283His) rs1576748346
NM_001145661.2(GATA2):c.84C>T (p.Gly28=) rs761369956
NM_001145661.2(GATA2):c.852C>T (p.Ser284=) rs1282036381
NM_001145661.2(GATA2):c.860G>A (p.Arg287His) rs1004873472
NM_001145661.2(GATA2):c.872-5T>G rs886038417
NM_001145661.2(GATA2):c.920G>A (p.Arg307Gln) rs1559986102
NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg) rs1480450110
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile)
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp)
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met)
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys)
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln)
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu)
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His)
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn)
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1303-5C>A
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala)
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr)
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys)
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr)
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys)
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys)
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile)
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526-3C>T
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln)
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=)
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=)
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn)
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser)
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser)
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met)
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val)
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg)
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr)
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met)
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp)
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly)
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn)
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu)
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser)
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=)
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp)
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val)
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu)
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val)
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp)
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser)
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr)
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro)
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp)
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu)
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys)
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro)
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp)
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys)
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu)
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln)
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His)
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val)
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del)
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val)
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val)
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe)
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala)
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val)
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu)
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val)
NM_001354604.2(MITF):c.987C>A (p.Asp329Glu) rs1291439207
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser)
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del)
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu)
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr)
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu)
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His)
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser)
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg)
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu)
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly)
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg)
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu)
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln)
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro)
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile)
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle)
NM_001378454.1(ALMS1):c.1237+4A>G
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg)
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg)
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg)
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del)
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys)
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg)
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg)
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys)
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile)
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr)
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser)
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala)
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr)
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile)
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr)
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr)
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val)
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala)
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile)
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg)
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu)
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala)
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=)
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val)
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp)
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met)
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup)
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del)
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala)
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr)
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val)
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly)
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly)
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr)
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys)
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn)
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr)
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu)
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys)
NM_001379200.1(TBX1):c.1037-1G>A
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser)
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=)
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr)
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly)
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu)
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg)
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala)
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg)
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser)
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=)
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys)
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr)
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys)
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser)
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu)
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del)
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup)
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup)
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val)
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del) rs886038791
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup)
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu)
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser)
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr)
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr)
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln)
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg)
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu)
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu)
NM_001379200.1(TBX1):c.437+3C>T
NM_001379200.1(TBX1):c.438-5C>A
NM_001379200.1(TBX1):c.438-7C>A
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn)
NM_001379200.1(TBX1):c.538C>A (p.Arg180=)
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr)
NM_001379200.1(TBX1):c.618G>A (p.Pro206=)
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)
NM_001379200.1(TBX1):c.646A>G (p.Met216Val)
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn)
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln)
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)
NM_001379200.1(TBX1):c.922G>C (p.Asp308His)
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln)
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys) rs1371763515
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu)
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1069G>A (p.Val357Met)
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys) rs751272874
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)
NM_002109.6(HARS1):c.115C>G (p.Leu39Val)
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly) rs1581503971
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161
NM_002109.6(HARS1):c.1194+4G>A rs370189312
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe)
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) rs201011416
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
NM_002109.6(HARS1):c.1311+4T>C rs958234389
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys) rs1204851184
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869
NM_002109.6(HARS1):c.1407G>C (p.Gln469His)
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu) rs1581500046
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser) rs1581516557
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621
NM_002109.6(HARS1):c.235G>A (p.Val79Ile)
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter)
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)
NM_002109.6(HARS1):c.349C>G (p.Leu117Val)
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr)
NM_002109.6(HARS1):c.363C>T (p.Gly121=)
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp)
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560
NM_002109.6(HARS1):c.383G>A (p.Arg128His)
NM_002109.6(HARS1):c.407C>T (p.Ala136Val) rs1334234821
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln)
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys)
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.494G>A (p.Arg165His)
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
NM_002109.6(HARS1):c.562G>C (p.Asp188His)
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys)
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe) rs762976181
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
NM_002109.6(HARS1):c.630+8C>G
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu) rs1562008284
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
NM_002109.6(HARS1):c.672_673del (p.Cys224fs)
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg)
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)
NM_002109.6(HARS1):c.729+3A>G rs938453967
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu)
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
NM_002109.6(HARS1):c.811G>A (p.Val271Ile) rs149018062
NM_002109.6(HARS1):c.823+6G>C
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)
NM_002109.6(HARS1):c.829G>A (p.Val277Ile)
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu)
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.90+3G>A
NM_002109.6(HARS1):c.90+4A>C
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe)
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)
NM_002109.6(HARS1):c.981G>T (p.Gly327=)
NM_002241.5(KCNJ10):c.1006G>C (p.Val336Leu)
NM_002241.5(KCNJ10):c.1012T>G (p.Ser338Ala)
NM_002241.5(KCNJ10):c.1015C>A (p.Pro339Thr) rs1557967589
NM_002241.5(KCNJ10):c.1015C>T (p.Pro339Ser) rs1557967589
NM_002241.5(KCNJ10):c.1027C>T (p.Arg343Cys)
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)
NM_002241.5(KCNJ10):c.1033A>G (p.Ser345Gly)
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982
NM_002241.5(KCNJ10):c.1046A>G (p.Tyr349Cys)
NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg) rs770453248
NM_002241.5(KCNJ10):c.1049G>C (p.Gly350Ala)
NM_002241.5(KCNJ10):c.1053C>G (p.Asp351Glu)
NM_002241.5(KCNJ10):c.1054C>A (p.Pro352Thr) rs888967595
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580
NM_002241.5(KCNJ10):c.106C>T (p.Arg36Cys) rs1256202581
NM_002241.5(KCNJ10):c.107G>A (p.Arg36His)
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985
NM_002241.5(KCNJ10):c.1106G>A (p.Gly369Asp)
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154
NM_002241.5(KCNJ10):c.1124G>A (p.Arg375His) rs189596680
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys)
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232
NM_002241.5(KCNJ10):c.142C>T (p.Arg48Cys)
NM_002241.5(KCNJ10):c.143G>C (p.Arg48Pro) rs201907875
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423
NM_002241.5(KCNJ10):c.1A>G (p.Met1Val)
NM_002241.5(KCNJ10):c.208C>T (p.Leu70Phe)
NM_002241.5(KCNJ10):c.20T>C (p.Val7Ala)
NM_002241.5(KCNJ10):c.217G>A (p.Ala73Thr)
NM_002241.5(KCNJ10):c.221C>T (p.Thr74Ile) rs796052604
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe)
NM_002241.5(KCNJ10):c.249C>T (p.Gly83=)
NM_002241.5(KCNJ10):c.250G>A (p.Val84Met) rs140646329
NM_002241.5(KCNJ10):c.264G>A (p.Leu88=) rs1571265749
NM_002241.5(KCNJ10):c.274G>T (p.Ala92Ser) rs1314505994
NM_002241.5(KCNJ10):c.278A>T (p.His93Leu)
NM_002241.5(KCNJ10):c.290T>A (p.Leu97Gln) rs1401791648
NM_002241.5(KCNJ10):c.292G>A (p.Glu98Lys)
NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) rs375361490
NM_002241.5(KCNJ10):c.301C>T (p.Pro101Ser)
NM_002241.5(KCNJ10):c.302C>T (p.Pro101Leu)
NM_002241.5(KCNJ10):c.304C>A (p.Pro102Thr)
NM_002241.5(KCNJ10):c.305C>T (p.Pro102Leu) rs372156619
NM_002241.5(KCNJ10):c.334G>T (p.Val112Leu)
NM_002241.5(KCNJ10):c.335T>G (p.Val112Gly)
NM_002241.5(KCNJ10):c.35C>A (p.Thr12Asn)
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111
NM_002241.5(KCNJ10):c.401G>A (p.Arg134His) rs368857205
NM_002241.5(KCNJ10):c.424C>G (p.Leu142Val)
NM_002241.5(KCNJ10):c.430A>G (p.Ile144Val)
NM_002241.5(KCNJ10):c.436C>T (p.Leu146Phe)
NM_002241.5(KCNJ10):c.451C>A (p.Leu151Met)
NM_002241.5(KCNJ10):c.479T>A (p.Phe160Tyr)
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu)
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg)
NM_002241.5(KCNJ10):c.622C>T (p.Leu208Phe)
NM_002241.5(KCNJ10):c.62T>C (p.Met21Thr) rs878854483
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886
NM_002241.5(KCNJ10):c.659C>G (p.Thr220Ser)
NM_002241.5(KCNJ10):c.685A>G (p.Ile229Val) rs767156961
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp) rs149615470
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361
NM_002241.5(KCNJ10):c.694A>G (p.Asn232Asp)
NM_002241.5(KCNJ10):c.719T>C (p.Val240Ala)
NM_002241.5(KCNJ10):c.725C>T (p.Thr242Ile)
NM_002241.5(KCNJ10):c.769C>G (p.His257Asp)
NM_002241.5(KCNJ10):c.783G>C (p.Glu261Asp) rs372204106
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp)
NM_002241.5(KCNJ10):c.80G>A (p.Arg27Gln)
NM_002241.5(KCNJ10):c.817G>T (p.Gly273Cys)
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln)
NM_002241.5(KCNJ10):c.845T>A (p.Ile282Asn)
NM_002241.5(KCNJ10):c.857C>G (p.Thr286Arg)
NM_002241.5(KCNJ10):c.878C>T (p.Thr293Ile)
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_002241.5(KCNJ10):c.998T>C (p.Val333Ala) rs750091894
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.2(SALL1):c.3938G>A (p.Arg1313His) rs529030284
NM_002968.2(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser)
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) rs1602883262
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) rs1225998238
NM_003611.3(OFD1):c.1848G>A (p.Val616=)
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.3(OFD1):c.2028G>A (p.Leu676=)
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) rs780934031
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2757+4dup
NM_003611.3(OFD1):c.2757G>A (p.Arg919=)
NM_003611.3(OFD1):c.276T>A (p.Ser92=)
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met)
NM_003611.3(OFD1):c.2997-6A>G
NM_003611.3(OFD1):c.29T>C (p.Val10Ala)
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.620_622dup (p.Glu208_Glu209insVal)
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)
NM_003611.3(OFD1):c.829-16A>G
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly)
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr)
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) rs200927557
NM_005219.5(DIAPH1):c.1164-3C>A
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln)
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585
NM_005219.5(DIAPH1):c.1280+3A>G rs747583916
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg)
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser)
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His)
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly)
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) rs1317819365
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=)
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val)
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly)
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu)
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu)
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile)
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup)
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup)
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu)
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) rs1562320961
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) rs774876990
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser)
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) rs751847293
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu)
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu)
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) rs764305772
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) rs760797227
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) rs1292590118
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) rs1596376794
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser) rs1596376794
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe)
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln)
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys)
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser)
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val)
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val)
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=) rs760850451
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) rs1431409262
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg)
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) rs1554201371
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) rs200394036
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Glu1070_Arg1071insSer)
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup)
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325
NM_005219.5(DIAPH1):c.3273+8C>G
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) rs1596337513
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) rs756003432
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) rs1554200929
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile)
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) rs764739820
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) rs1554199642
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) rs546064158
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) rs1167599945
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg)
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) rs1596422064
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg)
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser)
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) rs766359994
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu)
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly)
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)
NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) rs752193295
NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) rs767408205
NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457
NM_005236.2(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187
NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068
NM_005236.2(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246
NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.2(ERCC4):c.211T>C (p.Tyr71His) rs145315496
NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) rs373906926
NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959
NM_005236.2(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375
NM_005236.2(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194
NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753
NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853
NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915
NM_005236.2(ERCC4):c.2477C>T (p.Ala826Val) rs141790888
NM_005236.2(ERCC4):c.257G>A (p.Arg86His) rs187435008
NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) rs1211543560
NM_005236.2(ERCC4):c.2603A>C (p.His868Pro) rs368064765
NM_005236.2(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.2(ERCC4):c.260G>A (p.Arg87His) rs371487368
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile) rs140726146
NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) rs754622238
NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.2(ERCC4):c.532G>T (p.Val178Leu) rs149927607
NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu) rs748499820
NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr) rs141101671
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.2(ERCC4):c.798C>G (p.Ile266Met) rs746106147
NM_005236.2(ERCC4):c.79C>T (p.Leu27Phe) rs587778282
NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln) rs202243691
NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
NM_005236.3(ERCC4):c.2017+3G>A
NM_005236.3(ERCC4):c.208-3T>C
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
NM_005236.3(ERCC4):c.389-9C>A
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.435_440del (p.143GA[2])
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.905C>A (p.Ala302Asp)
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_005391.4(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr)
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.505+3A>T
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
NM_005391.5(PDK3):c.595+3A>G
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005992.1(TBX1):c.1009+500_1009+502delinsAGGGCCGGCGGC rs1555896709
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg)
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val)
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp)
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met)
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val)
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
NM_012431.3(SEMA3E):c.1500+5G>A
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu)
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His)
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114
NM_012431.3(SEMA3E):c.550+6T>A
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val)
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.999-3C>T
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) rs1596419433
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly)
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) rs773396835
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val)
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu)
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp)
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg)
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg)
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg)
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala)
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys)
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe)
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) rs138311444
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) rs74040399
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser)
NM_014918.5(CHSY1):c.793G>A (p.Val265Met)
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly)
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro)
NM_014918.5(CHSY1):c.966C>T (p.Arg322=)
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys)
NM_014918.5(CHSY1):c.989G>A (p.Arg330His)
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10151G>A (p.Ser3384Asn) rs1553416873
NM_015120.4(ALMS1):c.10180G>T (p.Ala3394Ser) rs145678202
NM_015120.4(ALMS1):c.10321A>G (p.Arg3441Gly) rs746702722
NM_015120.4(ALMS1):c.10341G>T (p.Glu3447Asp) rs928444733
NM_015120.4(ALMS1):c.10536G>T (p.Trp3512Cys) rs761712682
NM_015120.4(ALMS1):c.10633A>G (p.Arg3545Gly) rs773075850
NM_015120.4(ALMS1):c.10638A>G (p.Ile3546Met) rs760321819
NM_015120.4(ALMS1):c.10654A>G (p.Asn3552Asp) rs200992340
NM_015120.4(ALMS1):c.106G>C (p.Ala36Pro) rs955371491
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.10707A>C (p.Arg3569Ser) rs758987316
NM_015120.4(ALMS1):c.10726G>A (p.Gly3576Arg) rs752099349
NM_015120.4(ALMS1):c.10777A>G (p.Thr3593Ala) rs200467041
NM_015120.4(ALMS1):c.10835A>G (p.Gln3612Arg) rs45452795
NM_015120.4(ALMS1):c.10933C>G (p.Leu3645Val) rs1060500033
NM_015120.4(ALMS1):c.10950T>C (p.Ser3650=) rs373024720
NM_015120.4(ALMS1):c.10988A>G (p.Glu3663Gly) rs377418428
NM_015120.4(ALMS1):c.1099C>G (p.Gln367Glu) rs887270267
NM_015120.4(ALMS1):c.11009A>G (p.Gln3670Arg) rs773767346
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
NM_015120.4(ALMS1):c.11048_11059del (p.Leu3683_Ser3686del) rs757734472
NM_015120.4(ALMS1):c.11143A>G (p.Ile3715Val) rs370536187
NM_015120.4(ALMS1):c.11216G>A (p.Arg3739Gln) rs200378498
NM_015120.4(ALMS1):c.11258A>G (p.Asn3753Ser) rs199917289
NM_015120.4(ALMS1):c.11266T>A (p.Ser3756Thr) rs878854995
NM_015120.4(ALMS1):c.11287G>A (p.Glu3763Lys) rs1243181452
NM_015120.4(ALMS1):c.1129A>C (p.Thr377Pro) rs376750978
NM_015120.4(ALMS1):c.1129A>T (p.Thr377Ser) rs376750978
NM_015120.4(ALMS1):c.11312A>G (p.Asp3771Gly) rs770147613
NM_015120.4(ALMS1):c.11332G>A (p.Glu3778Lys) rs565098671
NM_015120.4(ALMS1):c.11335A>G (p.Arg3779Gly) rs773130069
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11484C>T (p.Ser3828=) rs549156484
NM_015120.4(ALMS1):c.11548-3T>C rs555547573
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11614A>T (p.Asn3872Tyr) rs368957150
NM_015120.4(ALMS1):c.11629A>G (p.Asn3877Asp) rs377130177
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.11692G>A (p.Gly3898Ser) rs187887110
NM_015120.4(ALMS1):c.11708C>G (p.Thr3903Ser) rs369008610
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11731C>G (p.Pro3911Ala) rs761099182
NM_015120.4(ALMS1):c.11740A>C (p.Ser3914Arg) rs776963509
NM_015120.4(ALMS1):c.1177C>A (p.Arg393Ser) rs3813227
NM_015120.4(ALMS1):c.11857A>G (p.Lys3953Glu) rs771282076
NM_015120.4(ALMS1):c.11896G>T (p.Val3966Leu) rs199683521
NM_015120.4(ALMS1):c.11942C>T (p.Thr3981Ile) rs200568988
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.11974A>G (p.Ile3992Val) rs368146962
NM_015120.4(ALMS1):c.12008G>A (p.Arg4003Gln) rs375923289
NM_015120.4(ALMS1):c.12040G>A (p.Gly4014Ser) rs541576664
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12089T>C (p.Leu4030Pro) rs372910832
NM_015120.4(ALMS1):c.12114+4C>T rs373191489
NM_015120.4(ALMS1):c.12120A>C (p.Glu4040Asp) rs1016477755
NM_015120.4(ALMS1):c.12122C>T (p.Ser4041Leu) rs763327026
NM_015120.4(ALMS1):c.12154C>T (p.Arg4052Cys) rs201874056
NM_015120.4(ALMS1):c.12167G>A (p.Arg4056Gln) rs752714698
NM_015120.4(ALMS1):c.12176G>A (p.Arg4059His) rs61743400
NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His) rs878854996
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12287C>T (p.Pro4096Leu) rs750502331
NM_015120.4(ALMS1):c.12333C>G (p.Ile4111Met) rs375524122
NM_015120.4(ALMS1):c.12353A>G (p.Gln4118Arg)