ClinVar Miner

List of variants reported as likely benign for auditory system disease by Invitae

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2867
Download table as spreadsheet
HGVS dbSNP
NM_000268.4(NF2):c.1000-5C>T
NM_000268.4(NF2):c.1005G>A (p.Glu335=)
NM_000268.4(NF2):c.1011G>A (p.Gln337=)
NM_000268.4(NF2):c.1017C>T (p.Leu339=)
NM_000268.4(NF2):c.1020T>C (p.Ala340=) rs1556000130
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713
NM_000268.4(NF2):c.1059G>A (p.Arg353=)
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923
NM_000268.4(NF2):c.1078C>T (p.Leu360=)
NM_000268.4(NF2):c.1080G>C (p.Leu360=)
NM_000268.4(NF2):c.1081C>T (p.Leu361=)
NM_000268.4(NF2):c.1104A>G (p.Thr368=) rs1601644321
NM_000268.4(NF2):c.1122+10G>A
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524
NM_000268.4(NF2):c.114+7G>A
NM_000268.4(NF2):c.115-4G>A
NM_000268.4(NF2):c.115-6T>C
NM_000268.4(NF2):c.1155T>C (p.Ala385=)
NM_000268.4(NF2):c.1170C>T (p.Ile390=)
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1197C>T (p.Ala399=)
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976
NM_000268.4(NF2):c.1209A>C (p.Ala403=)
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612
NM_000268.4(NF2):c.1218G>A (p.Glu406=)
NM_000268.4(NF2):c.1236C>T (p.Ile412=)
NM_000268.4(NF2):c.1242C>T (p.Ala414=)
NM_000268.4(NF2):c.1245A>G (p.Thr415=)
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776
NM_000268.4(NF2):c.1257G>A (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.126A>G (p.Lys42=) rs1601578848
NM_000268.4(NF2):c.1272C>A (p.Arg424=) rs781241303
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775
NM_000268.4(NF2):c.1290G>A (p.Val430=) rs756041768
NM_000268.4(NF2):c.1291C>T (p.Leu431=) rs1297186898
NM_000268.4(NF2):c.1293G>A (p.Leu431=) rs1340711783
NM_000268.4(NF2):c.1299C>T (p.Ala433=)
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.132G>A (p.Lys44=) rs1224221346
NM_000268.4(NF2):c.1341-5del
NM_000268.4(NF2):c.1350G>A (p.Glu450=) rs1231236846
NM_000268.4(NF2):c.1353A>G (p.Ala451=)
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255
NM_000268.4(NF2):c.1383A>C (p.Ala461=)
NM_000268.4(NF2):c.1383A>G (p.Ala461=)
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1413G>A (p.Lys471=) rs1323009570
NM_000268.4(NF2):c.1419G>A (p.Leu473=)
NM_000268.4(NF2):c.1428C>T (p.Ala476=)
NM_000268.4(NF2):c.1431C>A (p.Thr477=)
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946
NM_000268.4(NF2):c.1443C>T (p.Tyr481=)
NM_000268.4(NF2):c.1446+10G>C
NM_000268.4(NF2):c.1446+9G>A rs778709917
NM_000268.4(NF2):c.1447-7T>C rs1182185192
NM_000268.4(NF2):c.1455C>T (p.Asn485=) rs368966931
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1470G>T (p.Pro490=)
NM_000268.4(NF2):c.1491C>T (p.Ser497=) rs1556002514
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356
NM_000268.4(NF2):c.1509C>T (p.Asp503=)
NM_000268.4(NF2):c.1518T>A (p.Ser506=)
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
NM_000268.4(NF2):c.1524C>T (p.Asp508=)
NM_000268.4(NF2):c.1527C>T (p.Phe509=)
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.1548G>T (p.Arg516=) rs534398531
NM_000268.4(NF2):c.1560G>A (p.Glu520=)
NM_000268.4(NF2):c.1569A>G (p.Lys523=)
NM_000268.4(NF2):c.1574+10C>T
NM_000268.4(NF2):c.1574+7A>G rs1601659412
NM_000268.4(NF2):c.1574+9C>A
NM_000268.4(NF2):c.1575-6C>T rs1350177470
NM_000268.4(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.4(NF2):c.1638C>T (p.Ile546=) rs774264046
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486
NM_000268.4(NF2):c.1653G>A (p.Leu551=) rs1601666174
NM_000268.4(NF2):c.165G>A (p.Gly55=)
NM_000268.4(NF2):c.1671T>C (p.Ala557=) rs759780271
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156
NM_000268.4(NF2):c.1722C>T (p.His574=) rs1041539951
NM_000268.4(NF2):c.1737+9G>A rs1601666607
NM_000268.4(NF2):c.1743C>T (p.Thr581=)
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1785C>G (p.Leu595=)
NM_000268.4(NF2):c.183C>T (p.Phe61=)
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>T (p.Leu64=)
NM_000268.4(NF2):c.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.219C>T (p.Ala73=)
NM_000268.4(NF2):c.240+8T>C
NM_000268.4(NF2):c.241-10A>G
NM_000268.4(NF2):c.241-4G>C
NM_000268.4(NF2):c.241-5T>C rs1378725834
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.4(NF2):c.264G>A (p.Lys88=)
NM_000268.4(NF2):c.276C>T (p.Val92=)
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464
NM_000268.4(NF2):c.289T>C (p.Leu97=)
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.318A>G (p.Glu106=)
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384
NM_000268.4(NF2):c.336G>A (p.Glu112=)
NM_000268.4(NF2):c.339C>T (p.Ile113=)
NM_000268.4(NF2):c.342A>G (p.Thr114=)
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761
NM_000268.4(NF2):c.357C>T (p.Phe119=) rs1370689871
NM_000268.4(NF2):c.363+7C>T
NM_000268.4(NF2):c.363+9G>A
NM_000268.4(NF2):c.364-8C>T rs1601589373
NM_000268.4(NF2):c.36C>T (p.Ser12=)
NM_000268.4(NF2):c.402T>C (p.Pro134=)
NM_000268.4(NF2):c.402T>G (p.Pro134=)
NM_000268.4(NF2):c.414T>C (p.Ser138=) rs1601589507
NM_000268.4(NF2):c.417G>A (p.Val139=)
NM_000268.4(NF2):c.432C>T (p.Tyr144=)
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447
NM_000268.4(NF2):c.438C>G (p.Val146=)
NM_000268.4(NF2):c.447+10A>G
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
NM_000268.4(NF2):c.501A>G (p.Glu167=)
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.516+10T>G rs758073951
NM_000268.4(NF2):c.516+7G>T
NM_000268.4(NF2):c.516+9T>C
NM_000268.4(NF2):c.517-10T>C
NM_000268.4(NF2):c.531T>C (p.Tyr177=)
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280
NM_000268.4(NF2):c.546A>G (p.Glu182=)
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.57C>G (p.Pro19=)
NM_000268.4(NF2):c.600-8C>T
NM_000268.4(NF2):c.651C>T (p.Tyr217=)
NM_000268.4(NF2):c.672C>T (p.Ile224=)
NM_000268.4(NF2):c.676-4A>G
NM_000268.4(NF2):c.676-9G>T
NM_000268.4(NF2):c.687C>A (p.Gly229=)
NM_000268.4(NF2):c.693G>A (p.Glu231=)
NM_000268.4(NF2):c.696G>A (p.Leu232=)
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>A (p.Thr23=)
NM_000268.4(NF2):c.6C>T (p.Ala2=)
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972
NM_000268.4(NF2):c.726C>T (p.His242=)
NM_000268.4(NF2):c.72G>A (p.Val24=)
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232
NM_000268.4(NF2):c.738T>C (p.Pro246=)
NM_000268.4(NF2):c.745A>C (p.Arg249=)
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.771G>A (p.Pro257=) rs759032771
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>T (p.Ile26=)
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652
NM_000268.4(NF2):c.810+23_810+25del rs765519341
NM_000268.4(NF2):c.810+7C>T
NM_000268.4(NF2):c.810+9T>C rs143794864
NM_000268.4(NF2):c.811-10A>G
NM_000268.4(NF2):c.826C>T (p.Leu276=)
NM_000268.4(NF2):c.849C>T (p.Phe283=) rs1555997567
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499
NM_000268.4(NF2):c.873T>C (p.Arg291=)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875
NM_000268.4(NF2):c.886-5C>T
NM_000268.4(NF2):c.886-9del
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989
NM_000268.4(NF2):c.939C>A (p.Ala313=) rs747526252
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252
NM_000268.4(NF2):c.946T>C (p.Leu316=)
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.993A>G (p.Arg331=) rs1601637132
NM_000268.4(NF2):c.999+7A>C
NM_000268.4(NF2):c.9G>A (p.Gly3=)
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.3262G>C (p.Gly1088Arg) rs141095369
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu) rs148367422
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=) rs1580623756
NM_000414.4(HSD17B4):c.1011T>C (p.Tyr337=)
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979
NM_000414.4(HSD17B4):c.1074A>G (p.Pro358=)
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447
NM_000414.4(HSD17B4):c.112+8G>A rs770343200
NM_000414.4(HSD17B4):c.1125C>T (p.Pro375=)
NM_000414.4(HSD17B4):c.113-7A>G
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1140C>T (p.Ile380=)
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=) rs1340926346
NM_000414.4(HSD17B4):c.1197C>T (p.Ile399=)
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1248A>G (p.Pro416=)
NM_000414.4(HSD17B4):c.1254C>T (p.Pro418=)
NM_000414.4(HSD17B4):c.1261+9T>C
NM_000414.4(HSD17B4):c.1262-10T>G
NM_000414.4(HSD17B4):c.1262-8C>A
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)
NM_000414.4(HSD17B4):c.1302T>C (p.Asp434=)
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875
NM_000414.4(HSD17B4):c.1334-4T>A
NM_000414.4(HSD17B4):c.1335C>A (p.Val445=) rs749383778
NM_000414.4(HSD17B4):c.1347T>C (p.Ser449=)
NM_000414.4(HSD17B4):c.1350G>A (p.Glu450=)
NM_000414.4(HSD17B4):c.1383C>T (p.Leu461=)
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=) rs746787900
NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)
NM_000414.4(HSD17B4):c.1419G>T (p.Arg473=)
NM_000414.4(HSD17B4):c.1434C>T (p.Val478=) rs1239905170
NM_000414.4(HSD17B4):c.1438-9T>G
NM_000414.4(HSD17B4):c.1449C>T (p.Ala483=)
NM_000414.4(HSD17B4):c.1491C>T (p.Thr497=)
NM_000414.4(HSD17B4):c.1542A>G (p.Leu514=)
NM_000414.4(HSD17B4):c.1545C>T (p.His515=)
NM_000414.4(HSD17B4):c.1554T>C (p.Pro518=)
NM_000414.4(HSD17B4):c.1574-10C>T
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.1623C>G (p.Ala541=)
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967
NM_000414.4(HSD17B4):c.1626G>A (p.Arg542=)
NM_000414.4(HSD17B4):c.165T>C (p.Ala55=)
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880
NM_000414.4(HSD17B4):c.1674A>T (p.Ala558=)
NM_000414.4(HSD17B4):c.1680+7G>A
NM_000414.4(HSD17B4):c.1681-5T>A rs1045926538
NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=) rs751248561
NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=) rs1580700697
NM_000414.4(HSD17B4):c.1716T>C (p.Thr572=)
NM_000414.4(HSD17B4):c.1767+7A>G
NM_000414.4(HSD17B4):c.1768-10_1768-9delinsCT
NM_000414.4(HSD17B4):c.1768-5C>T
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000414.4(HSD17B4):c.1768-9C>T rs1338480210
NM_000414.4(HSD17B4):c.177T>G (p.Val59=)
NM_000414.4(HSD17B4):c.1806T>C (p.Tyr602=)
NM_000414.4(HSD17B4):c.1833T>C (p.Thr611=)
NM_000414.4(HSD17B4):c.1836A>G (p.Ser612=)
NM_000414.4(HSD17B4):c.1848C>G (p.Pro616=)
NM_000414.4(HSD17B4):c.1855-6T>C
NM_000414.4(HSD17B4):c.1855-8G>A rs369600555
NM_000414.4(HSD17B4):c.1855-9C>T
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.186A>C (p.Ile62=)
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996
NM_000414.4(HSD17B4):c.1875C>T (p.Thr625=)
NM_000414.4(HSD17B4):c.1878T>C (p.Phe626=)
NM_000414.4(HSD17B4):c.1905A>T (p.Leu635=) rs758434548
NM_000414.4(HSD17B4):c.1914T>A (p.Ile638=) rs1580711431
NM_000414.4(HSD17B4):c.1917G>A (p.Gly639=)
NM_000414.4(HSD17B4):c.1926G>T (p.Val642=)
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.1977T>C (p.Asn659=)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2061A>G (p.Thr687=)
NM_000414.4(HSD17B4):c.207A>G (p.Ala69=)
NM_000414.4(HSD17B4):c.2097C>T (p.Val699=)
NM_000414.4(HSD17B4):c.2115T>C (p.Pro705=)
NM_000414.4(HSD17B4):c.2122-4G>C
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.2151A>G (p.Arg717=)
NM_000414.4(HSD17B4):c.2172G>A (p.Gln724=)
NM_000414.4(HSD17B4):c.2190T>C (p.Leu730=) rs1580736426
NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)
NM_000414.4(HSD17B4):c.221-5C>T
NM_000414.4(HSD17B4):c.231A>G (p.Glu77=) rs1580547484
NM_000414.4(HSD17B4):c.249G>A (p.Val83=)
NM_000414.4(HSD17B4):c.27G>A (p.Gly9=) rs370888351
NM_000414.4(HSD17B4):c.280+10C>G
NM_000414.4(HSD17B4):c.281-5T>C
NM_000414.4(HSD17B4):c.281-9A>G
NM_000414.4(HSD17B4):c.302+7A>G
NM_000414.4(HSD17B4):c.303-3dup
NM_000414.4(HSD17B4):c.330G>A (p.Arg110=)
NM_000414.4(HSD17B4):c.351T>C (p.Asp117=)
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186
NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)
NM_000414.4(HSD17B4):c.402A>T (p.Ala134=)
NM_000414.4(HSD17B4):c.432A>G (p.Gly144=)
NM_000414.4(HSD17B4):c.456T>C (p.Ala152=)
NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)
NM_000414.4(HSD17B4):c.498T>G (p.Ala166=)
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310
NM_000414.4(HSD17B4):c.519C>T (p.Gly173=)
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=) rs756529538
NM_000414.4(HSD17B4):c.537A>G (p.Ala179=)
NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)
NM_000414.4(HSD17B4):c.58+10C>T
NM_000414.4(HSD17B4):c.58+7A>G
NM_000414.4(HSD17B4):c.585T>C (p.Asn195=)
NM_000414.4(HSD17B4):c.59-8T>A
NM_000414.4(HSD17B4):c.591A>G (p.Gly197=)
NM_000414.4(HSD17B4):c.594A>T (p.Ser198=)
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826
NM_000414.4(HSD17B4):c.627T>C (p.Leu209=)
NM_000414.4(HSD17B4):c.636C>T (p.Ala212=)
NM_000414.4(HSD17B4):c.642G>A (p.Lys214=)
NM_000414.4(HSD17B4):c.645A>G (p.Pro215=)
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)
NM_000414.4(HSD17B4):c.654G>C (p.Val218=)
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.669T>C (p.Leu223=)
NM_000414.4(HSD17B4):c.675T>G (p.Leu225=) rs771467784
NM_000414.4(HSD17B4):c.681C>T (p.His227=)
NM_000414.4(HSD17B4):c.699T>C (p.Asn233=)
NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)
NM_000414.4(HSD17B4):c.715-7T>C
NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)
NM_000414.4(HSD17B4):c.739+6TC[2]
NM_000414.4(HSD17B4):c.739+8T>C
NM_000414.4(HSD17B4):c.740-7T>C
NM_000414.4(HSD17B4):c.789A>G (p.Pro263=)
NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)
NM_000414.4(HSD17B4):c.807C>G (p.Val269=)
NM_000414.4(HSD17B4):c.807C>T (p.Val269=)
NM_000414.4(HSD17B4):c.810G>A (p.Lys270=)
NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)
NM_000414.4(HSD17B4):c.822G>A (p.Lys274=)
NM_000414.4(HSD17B4):c.869-8C>T
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.951G>T (p.Thr317=)
NM_000414.4(HSD17B4):c.954T>C (p.Ser318=)
NM_000414.4(HSD17B4):c.957A>G (p.Thr319=) rs748258737
NM_000414.4(HSD17B4):c.960A>G (p.Ala320=)
NM_000414.4(HSD17B4):c.963A>C (p.Thr321=)
NM_000414.4(HSD17B4):c.972+10A>G
NM_000414.4(HSD17B4):c.981T>C (p.Ala327=)
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=) rs749165759
NM_000503.6(EYA1):c.1032C>T (p.Tyr344=) rs778091745
NM_000503.6(EYA1):c.1455A>C (p.Ala485=) rs200008207
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser) rs146687496
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540
NM_001110556.2(FLNA):c.1008C>T (p.Asn336=) rs781823583
NM_001110556.2(FLNA):c.102C>T (p.Asp34=)
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) rs1057522072
NM_001110556.2(FLNA):c.1050G>C (p.Val350=)
NM_001110556.2(FLNA):c.1053G>T (p.Thr351=)
NM_001110556.2(FLNA):c.108G>A (p.Ala36=) rs782572024
NM_001110556.2(FLNA):c.1104C>T (p.Ser368=)
NM_001110556.2(FLNA):c.1107C>T (p.Pro369=) rs886044791
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1122G>C (p.Val374=)
NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly)
NM_001110556.2(FLNA):c.1134G>A (p.Gln378=)
NM_001110556.2(FLNA):c.1167C>T (p.Pro389=) rs368227790
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) rs1603362865
NM_001110556.2(FLNA):c.1222A>G (p.Thr408Ala) rs782041563
NM_001110556.2(FLNA):c.1229-8C>T rs376190976
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) rs1351119633
NM_001110556.2(FLNA):c.129G>A (p.Lys43=) rs1569551929
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) rs372113435
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) rs782437864
NM_001110556.2(FLNA):c.1359C>T (p.Val453=)
NM_001110556.2(FLNA):c.1365C>T (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1377G>A (p.Thr459=)
NM_001110556.2(FLNA):c.1383C>T (p.Ala461=) rs371223471
NM_001110556.2(FLNA):c.141C>T (p.Asn47=) rs1603363922
NM_001110556.2(FLNA):c.1429+9G>A rs782226711
NM_001110556.2(FLNA):c.1430-10C>T rs1418953981
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) rs782262202
NM_001110556.2(FLNA):c.1548G>A (p.Lys516=)
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) rs782376419
NM_001110556.2(FLNA):c.1674T>C (p.Gly558=)
NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)
NM_001110556.2(FLNA):c.169C>T (p.Leu57=) rs781849970
NM_001110556.2(FLNA):c.1756C>T (p.Leu586=)
NM_001110556.2(FLNA):c.1761G>A (p.Glu587=) rs377261686
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile) rs782776511
NM_001110556.2(FLNA):c.1770C>T (p.Val590=)
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) rs200673062
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1829-6T>C
NM_001110556.2(FLNA):c.1863C>A (p.Ile621=)
NM_001110556.2(FLNA):c.1896T>C (p.Asp632=)
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.1911G>A (p.Pro637=)
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) rs1221420896
NM_001110556.2(FLNA):c.1995C>T (p.Asp665=)
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) rs782344845
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2023-5G>A rs782694533
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2064C>T (p.Ala688=) rs782738252
NM_001110556.2(FLNA):c.2076A>G (p.Pro692=) rs1603362287
NM_001110556.2(FLNA):c.216C>T (p.Ser72=)
NM_001110556.2(FLNA):c.2175C>T (p.Asp725=)
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) rs375038091
NM_001110556.2(FLNA):c.2199C>T (p.Cys733=)
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001110556.2(FLNA):c.2268C>T (p.Asn756=)
NM_001110556.2(FLNA):c.2280+9A>G rs1603362191
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001110556.2(FLNA):c.2325C>T (p.Tyr775=)
NM_001110556.2(FLNA):c.2331C>T (p.Pro777=)
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.237G>T (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2388C>T (p.Cys796=)
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001110556.2(FLNA):c.2405-4G>A rs368187218
NM_001110556.2(FLNA):c.2405-7G>A
NM_001110556.2(FLNA):c.2409C>T (p.Asp803=) rs1557178312
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) rs374672498
NM_001110556.2(FLNA):c.2466C>T (p.Ile822=) rs878854461
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943
NM_001110556.2(FLNA):c.2487T>C (p.Asn829=)
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=) rs782571710
NM_001110556.2(FLNA):c.2571G>A (p.Thr857=) rs1208353421
NM_001110556.2(FLNA):c.2587C>A (p.Arg863=)
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001110556.2(FLNA):c.270C>T (p.His90=)
NM_001110556.2(FLNA):c.2724C>T (p.Asp908=)
NM_001110556.2(FLNA):c.2766T>C (p.Asp922=)
NM_001110556.2(FLNA):c.2826+9A>G rs782468457
NM_001110556.2(FLNA):c.2827-7T>C
NM_001110556.2(FLNA):c.2838C>T (p.Gly946=) rs782612987
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
NM_001110556.2(FLNA):c.2868C>T (p.Ile956=)
NM_001110556.2(FLNA):c.2945-10G>A rs1603361583
NM_001110556.2(FLNA):c.2952C>T (p.Asp984=) rs782513930
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001110556.2(FLNA):c.2976A>G (p.Thr992=)
NM_001110556.2(FLNA):c.3006C>A (p.Gly1002=)
NM_001110556.2(FLNA):c.3044C>T (p.Ala1015Val) rs782322036
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.318C>T (p.Asn106=) rs1603363887
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) rs782006734
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001110556.2(FLNA):c.3255C>G (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys) rs782518956
NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) rs369583365
NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=) rs782062750
NM_001110556.2(FLNA):c.3318C>T (p.Gly1106=) rs1557177781
NM_001110556.2(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001110556.2(FLNA):c.3348C>T (p.Asp1116=)
NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=) rs782643175
NM_001110556.2(FLNA):c.3414C>A (p.Ile1138=)
NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.345C>T (p.Asp115=) rs1603363881
NM_001110556.2(FLNA):c.3570C>T (p.Ser1190=) rs782421889
NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) rs782300292
NM_001110556.2(FLNA):c.3603G>A (p.Ala1201=) rs371608258
NM_001110556.2(FLNA):c.3606G>A (p.Gly1202=)
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) rs782495669
NM_001110556.2(FLNA):c.36A>T (p.Ala12=) rs1603363987
NM_001110556.2(FLNA):c.3705C>T (p.Tyr1235=)
NM_001110556.2(FLNA):c.373+10G>A rs368292402
NM_001110556.2(FLNA):c.374-10C>T rs782709382
NM_001110556.2(FLNA):c.3759G>A (p.Val1253=)
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001110556.2(FLNA):c.3805+10C>T rs1603361041
NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=) rs367931067
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001110556.2(FLNA):c.3873G>A (p.Pro1291=)
NM_001110556.2(FLNA):c.387C>T (p.Ile129=) rs376726361
NM_001110556.2(FLNA):c.3909C>T (p.Asn1303=) rs1060504018
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.3924C>T (p.Tyr1308=)
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001110556.2(FLNA):c.3957G>A (p.Val1319=)
NM_001110556.2(FLNA):c.3966G>A (p.Thr1322=)
NM_001110556.2(FLNA):c.3980-10A>G rs1603360960
NM_001110556.2(FLNA):c.3990C>T (p.Ser1330=)
NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=) rs782414490
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=) rs1375431086
NM_001110556.2(FLNA):c.4032C>G (p.Pro1344=)
NM_001110556.2(FLNA):c.4032C>T (p.Pro1344=)
NM_001110556.2(FLNA):c.4050C>T (p.Thr1350=) rs1603360933
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4068C>T (p.Ser1356=)
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001110556.2(FLNA):c.4125G>A (p.Lys1375=)
NM_001110556.2(FLNA):c.4143-9T>C
NM_001110556.2(FLNA):c.4155G>A (p.Thr1385=)
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4188C>T (p.Ser1396=) rs781927602
NM_001110556.2(FLNA):c.4221C>T (p.Asp1407=)
NM_001110556.2(FLNA):c.4236C>T (p.Val1412=) rs782589572
NM_001110556.2(FLNA):c.4245C>A (p.Ile1415=)
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001110556.2(FLNA):c.4311T>C (p.Pro1437=)
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001110556.2(FLNA):c.4353C>G (p.Val1451=) rs1028999299
NM_001110556.2(FLNA):c.4353C>T (p.Val1451=)
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001110556.2(FLNA):c.441C>T (p.His147=) rs781951563
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001110556.2(FLNA):c.4524C>T (p.Thr1508=)
NM_001110556.2(FLNA):c.4593C>G (p.Pro1531=)
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)
NM_001110556.2(FLNA):c.4598+7G>A
NM_001110556.2(FLNA):c.4653T>C (p.Ser1551=)
NM_001110556.2(FLNA):c.4695C>T (p.Pro1565=)
NM_001110556.2(FLNA):c.4710C>T (p.Ile1570=)
NM_001110556.2(FLNA):c.4722C>T (p.Asp1574=) rs1057521758
NM_001110556.2(FLNA):c.4725C>T (p.Ala1575=) rs969907803
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4755+8C>T
NM_001110556.2(FLNA):c.4788C>T (p.Ile1596=)
NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) rs781789823
NM_001110556.2(FLNA):c.4833C>T (p.Asp1611=)
NM_001110556.2(FLNA):c.4857C>T (p.Leu1619=) rs368536975
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) rs781846478
NM_001110556.2(FLNA):c.4911G>A (p.Val1637=)
NM_001110556.2(FLNA):c.4911G>C (p.Val1637=)
NM_001110556.2(FLNA):c.4917C>T (p.Thr1639=) rs370608721
NM_001110556.2(FLNA):c.4923C>T (p.Asp1641=)
NM_001110556.2(FLNA):c.4945+3G>A rs372673802
NM_001110556.2(FLNA):c.4945+8C>T rs1347132008
NM_001110556.2(FLNA):c.5010G>A (p.Thr1670=)
NM_001110556.2(FLNA):c.5025C>T (p.Asp1675=) rs1316728977
NM_001110556.2(FLNA):c.5061C>T (p.Thr1687=)
NM_001110556.2(FLNA):c.5073T>C (p.Pro1691=)
NM_001110556.2(FLNA):c.5115C>T (p.Asp1705=)
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=) rs368399445
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) rs782646183
NM_001110556.2(FLNA):c.5199C>T (p.Asn1733=) rs782086308
NM_001110556.2(FLNA):c.5217+9G>C
NM_001110556.2(FLNA):c.5218-9G>T
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331
NM_001110556.2(FLNA):c.5286C>T (p.Thr1762=)
NM_001110556.2(FLNA):c.5289C>T (p.Tyr1763=) rs782594312
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.5331G>A (p.Leu1777=)
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.5349G>C (p.Leu1783=)
NM_001110556.2(FLNA):c.5355G>C (p.Val1785=)
NM_001110556.2(FLNA):c.5416+7G>A
NM_001110556.2(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) rs782806731
NM_001110556.2(FLNA):c.5475C>T (p.Asp1825=) rs1057521451
NM_001110556.2(FLNA):c.5487C>T (p.Thr1829=)
NM_001110556.2(FLNA):c.5517G>A (p.Leu1839=)
NM_001110556.2(FLNA):c.5520C>T (p.His1840=) rs781795295
NM_001110556.2(FLNA):c.5538T>C (p.Tyr1846=)
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) rs372028899
NM_001110556.2(FLNA):c.5574C>T (p.Phe1858=) rs781875077
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.5613T>C (p.Tyr1871=) rs782317244
NM_001110556.2(FLNA):c.564C>T (p.Phe188=)
NM_001110556.2(FLNA):c.5694G>A (p.Leu1898=) rs782618942
NM_001110556.2(FLNA):c.5751T>C (p.Asp1917=) rs1557176262
NM_001110556.2(FLNA):c.5760C>T (p.Cys1920=)
NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=) rs376974488
NM_001110556.2(FLNA):c.5861-9C>T rs782153045
NM_001110556.2(FLNA):c.5884C>T (p.His1962Tyr)
NM_001110556.2(FLNA):c.5895C>T (p.Val1965=)
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.592C>T (p.Leu198=)
NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) rs782618234
NM_001110556.2(FLNA):c.5967G>A (p.Pro1989=) rs372351673
NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=) rs375252292
NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) rs782401919
NM_001110556.2(FLNA):c.6033C>T (p.Phe2011=)
NM_001110556.2(FLNA):c.6087C>T (p.His2029=)
NM_001110556.2(FLNA):c.6093C>T (p.Ala2031=)
NM_001110556.2(FLNA):c.60C>T (p.Gly20=) rs1557180245
NM_001110556.2(FLNA):c.6177A>G (p.Glu2059=) rs1557176106
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) rs782365685
NM_001110556.2(FLNA):c.622+10C>T rs781889769
NM_001110556.2(FLNA):c.6227-9A>C rs1202642295
NM_001110556.2(FLNA):c.623-7G>A rs782670288
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe) rs782157246
NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=) rs781913265
NM_001110556.2(FLNA):c.627G>A (p.Leu209=) rs782118838
NM_001110556.2(FLNA):c.6288C>T (p.Asp2096=) rs782376124
NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=) rs782255283
NM_001110556.2(FLNA):c.6321C>T (p.Cys2107=) rs1060504017
NM_001110556.2(FLNA):c.6324C>T (p.Pro2108=) rs782691221
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.6363C>T (p.Ala2121=) rs782107005
NM_001110556.2(FLNA):c.6366C>T (p.Asp2122=)
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6379+10G>T
NM_001110556.2(FLNA):c.6379+7G>C
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725
NM_001110556.2(FLNA):c.6408C>A (p.Gly2136=) rs1004981975
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) rs782477734
NM_001110556.2(FLNA):c.6502+10G>A rs1404710678
NM_001110556.2(FLNA):c.6503-8C>T rs1288120261
NM_001110556.2(FLNA):c.6507T>C (p.Ile2169=) rs1247682661
NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) rs781992483
NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) rs782053327
NM_001110556.2(FLNA):c.6570C>T (p.Ile2190=)
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.2(FLNA):c.6630C>T (p.His2210=)
NM_001110556.2(FLNA):c.6639C>T (p.Ser2213=) rs1358869497
NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=) rs1210861581
NM_001110556.2(FLNA):c.6744G>A (p.Leu2248=)
NM_001110556.2(FLNA):c.675G>A (p.Ala225=) rs375532074
NM_001110556.2(FLNA):c.6770-8T>C
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) rs376461465
NM_001110556.2(FLNA):c.6825C>T (p.Val2275=)
NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=) rs781972193
NM_001110556.2(FLNA):c.6861C>T (p.Asp2287=) rs782563765
NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) rs1557175875
NM_001110556.2(FLNA):c.6894G>C (p.Val2298=) rs878854462
NM_001110556.2(FLNA):c.6907+8G>A
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) rs782356784
NM_001110556.2(FLNA):c.696G>A (p.Ala232=) rs781907486
NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) rs374786760
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928
NM_001110556.2(FLNA):c.69G>A (p.Thr23=) rs1406591945
NM_001110556.2(FLNA):c.7033C>T (p.Leu2345=)
NM_001110556.2(FLNA):c.7074C>T (p.Asn2358=) rs35390129
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=) rs781843787
NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=) rs1603358785
NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) rs1557175472
NM_001110556.2(FLNA):c.720+8C>T rs371927910
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) rs202152952
NM_001110556.2(FLNA):c.7233C>T (p.Ile2411=)
NM_001110556.2(FLNA):c.7245C>T (p.Pro2415=) rs886044822
NM_001110556.2(FLNA):c.7275T>C (p.His2425=) rs781857682
NM_001110556.2(FLNA):c.72G>A (p.Arg24=) rs1603363947
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) rs782750091
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110556.2(FLNA):c.732C>G (p.Pro244=)
NM_001110556.2(FLNA):c.7334-4C>T
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210
NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) rs199677057
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337
NM_001110556.2(FLNA):c.7452C>T (p.Arg2484=)
NM_001110556.2(FLNA):c.7488C>G (p.Leu2496=)
NM_001110556.2(FLNA):c.7504G>A (p.Gly2502Ser)
NM_001110556.2(FLNA):c.7530C>T (p.Ser2510=) rs782602947
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile) rs187774579
NM_001110556.2(FLNA):c.7569C>T (p.Ser2523=)
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=)
NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=) rs782375435
NM_001110556.2(FLNA):c.7776G>C (p.Val2592=) rs369380495
NM_001110556.2(FLNA):c.781C>T (p.Leu261=)
NM_001110556.2(FLNA):c.7824C>T (p.His2608=) rs782530835
NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln) rs200883457
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) rs782774918
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556
NM_001110556.2(FLNA):c.813A>G (p.Pro271=)
NM_001110556.2(FLNA):c.843G>A (p.Pro281=)
NM_001110556.2(FLNA):c.868+9G>C
NM_001110556.2(FLNA):c.869-9C>T
NM_001110556.2(FLNA):c.90C>T (p.Ala30=) rs781895805
NM_001110556.2(FLNA):c.933T>C (p.Ala311=)
NM_001110556.2(FLNA):c.933T>G (p.Ala311=) rs782592312
NM_001110556.2(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001110556.2(FLNA):c.957C>T (p.Tyr319=) rs373561030
NM_001110556.2(FLNA):c.963G>A (p.Glu321=)
NM_001110556.2(FLNA):c.988-10C>T rs1603362942
NM_001110556.2(FLNA):c.988-6C>T
NM_001110556.2(FLNA):c.988-8C>T
NM_001110556.2(FLNA):c.988-9C>T rs978710698
NM_001110556.2(FLNA):c.999C>T (p.Thr333=) rs1167180795
NM_001127892.1(SALL1):c.-72G>A rs529479120
NM_001130823.3(DNMT1):c.1044-18dup rs59599980
NM_001130823.3(DNMT1):c.1044-3del rs780538171
NM_001130823.3(DNMT1):c.1044-9T>C rs533403196
NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=) rs139355567
NM_001130823.3(DNMT1):c.1065C>T (p.Arg355=)
NM_001130823.3(DNMT1):c.1089+7A>C
NM_001130823.3(DNMT1):c.1090-9C>T
NM_001130823.3(DNMT1):c.1167C>T (p.Asp389=)
NM_001130823.3(DNMT1):c.1170+10G>C
NM_001130823.3(DNMT1):c.1171-7C>T rs1168540279
NM_001130823.3(DNMT1):c.1230T>C (p.Ser410=)
NM_001130823.3(DNMT1):c.1245T>C (p.Tyr415=) rs574479254
NM_001130823.3(DNMT1):c.1272C>A (p.Thr424=)
NM_001130823.3(DNMT1):c.1272C>T (p.Thr424=)
NM_001130823.3(DNMT1):c.1281-4C>G
NM_001130823.3(DNMT1):c.1281-8C>T rs1256774103
NM_001130823.3(DNMT1):c.1287C>T (p.Tyr429=) rs536069799
NM_001130823.3(DNMT1):c.1296C>T (p.His432=) rs780223552
NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=) rs201487376
NM_001130823.3(DNMT1):c.1320C>G (p.Thr440=)
NM_001130823.3(DNMT1):c.1320C>T (p.Thr440=) rs143925123
NM_001130823.3(DNMT1):c.1329C>T (p.Ile443=)
NM_001130823.3(DNMT1):c.1400-7G>A
NM_001130823.3(DNMT1):c.1458T>C (p.Asp486=) rs369649047
NM_001130823.3(DNMT1):c.1473C>T (p.Ala491=)
NM_001130823.3(DNMT1):c.1479C>T (p.Ile493=)
NM_001130823.3(DNMT1):c.1493-11_1493-9dup rs1599366595
NM_001130823.3(DNMT1):c.1493-5C>T
NM_001130823.3(DNMT1):c.1512G>T (p.Leu504=)
NM_001130823.3(DNMT1):c.1527C>T (p.Pro509=)
NM_001130823.3(DNMT1):c.1530G>A (p.Glu510=)
NM_001130823.3(DNMT1):c.1536G>A (p.Ala512=) rs764039807
NM_001130823.3(DNMT1):c.1608C>T (p.Ser536=) rs553962731
NM_001130823.3(DNMT1):c.1614G>A (p.Ser538=)
NM_001130823.3(DNMT1):c.1617C>T (p.Thr539=)
NM_001130823.3(DNMT1):c.1644+10C>T
NM_001130823.3(DNMT1):c.1647C>T (p.Thr549=) rs751712217
NM_001130823.3(DNMT1):c.1743C>T (p.Asp581=)
NM_001130823.3(DNMT1):c.1749C>T (p.Ala583=) rs569985466
NM_001130823.3(DNMT1):c.1777C>T (p.Leu593=) rs765260449
NM_001130823.3(DNMT1):c.1812T>C (p.Ala604=) rs770886671
NM_001130823.3(DNMT1):c.1815G>T (p.Gly605=)
NM_001130823.3(DNMT1):c.1821G>A (p.Thr607=) rs371848582
NM_001130823.3(DNMT1):c.1832+10C>T rs371792523
NM_001130823.3(DNMT1):c.1833-4G>A rs753887750
NM_001130823.3(DNMT1):c.1833-5C>T
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) rs144567470
NM_001130823.3(DNMT1):c.1875G>A (p.Arg625=)
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239
NM_001130823.3(DNMT1):c.1911C>T (p.Thr637=) rs745677290
NM_001130823.3(DNMT1):c.1920C>T (p.Val640=) rs778721104
NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=)
NM_001130823.3(DNMT1):c.1941C>T (p.Phe647=)
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339
NM_001130823.3(DNMT1):c.2049T>C (p.Cys683=)
NM_001130823.3(DNMT1):c.204A>G (p.Leu68=) rs1477285670
NM_001130823.3(DNMT1):c.2117+9G>A rs1394137491
NM_001130823.3(DNMT1):c.2118-7A>C
NM_001130823.3(DNMT1):c.2166T>C (p.Asp722=)
NM_001130823.3(DNMT1):c.2193C>T (p.Pro731=)
NM_001130823.3(DNMT1):c.219A>G (p.Leu73=)
NM_001130823.3(DNMT1):c.2205C>T (p.His735=)
NM_001130823.3(DNMT1):c.222C>T (p.Ser74=)
NM_001130823.3(DNMT1):c.225+9G>A rs370656333
NM_001130823.3(DNMT1):c.2250C>T (p.Val750=)
NM_001130823.3(DNMT1):c.226-4G>A
NM_001130823.3(DNMT1):c.226-6C>A
NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) rs374841430
NM_001130823.3(DNMT1):c.2298G>T (p.Val766=)
NM_001130823.3(DNMT1):c.2385C>T (p.Val795=) rs1420828727
NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) rs148987580
NM_001130823.3(DNMT1):c.2388G>A (p.Thr796=)
NM_001130823.3(DNMT1):c.2427C>T (p.His809=)
NM_001130823.3(DNMT1):c.2430C>T (p.Ala810=) rs1316143407
NM_001130823.3(DNMT1):c.2445T>C (p.Ala815=)
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792
NM_001130823.3(DNMT1):c.2475G>A (p.Ser825=) rs368834599
NM_001130823.3(DNMT1):c.2481T>C (p.Pro827=)
NM_001130823.3(DNMT1):c.2568C>T (p.Ser856=)
NM_001130823.3(DNMT1):c.2601C>T (p.Pro867=)
NM_001130823.3(DNMT1):c.2622C>T (p.Asp874=)
NM_001130823.3(DNMT1):c.2625C>T (p.Asp875=) rs200928585
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087
NM_001130823.3(DNMT1):c.2649G>C (p.Leu883=) rs764724670
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597
NM_001130823.3(DNMT1):c.2706G>A (p.Glu902=) rs777958103
NM_001130823.3(DNMT1):c.2709C>T (p.Asp903=) rs1599358423
NM_001130823.3(DNMT1):c.2720+8C>T rs1043815439
NM_001130823.3(DNMT1):c.2736T>C (p.Cys912=)
NM_001130823.3(DNMT1):c.2790C>T (p.Leu930=)
NM_001130823.3(DNMT1):c.27G>A (p.Arg9=)
NM_001130823.3(DNMT1):c.282C>T (p.Asn94=)
NM_001130823.3(DNMT1):c.2832G>A (p.Lys944=)
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) rs539948794
NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=) rs780156725
NM_001130823.3(DNMT1):c.2922C>G (p.Arg974=)
NM_001130823.3(DNMT1):c.2976C>T (p.Tyr992=) rs202093243
NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) rs771269343
NM_001130823.3(DNMT1):c.3069C>G (p.Gly1023=) rs1599351980
NM_001130823.3(DNMT1):c.3098G>A (p.Arg1033Gln) rs199827346
NM_001130823.3(DNMT1):c.3099G>A (p.Arg1033=) rs1257621088
NM_001130823.3(DNMT1):c.3117-5C>T
NM_001130823.3(DNMT1):c.3117-8G>A rs769623856
NM_001130823.3(DNMT1):c.3117-9C>T rs199546819
NM_001130823.3(DNMT1):c.3138C>T (p.Ser1046=)
NM_001130823.3(DNMT1):c.3141T>C (p.Thr1047=) rs1377826866
NM_001130823.3(DNMT1):c.3147G>A (p.Ala1049=)
NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) rs141856197
NM_001130823.3(DNMT1):c.3183C>T (p.Ser1061=)
NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=) rs138736029
NM_001130823.3(DNMT1):c.3196G>A (p.Val1066Met) rs187394074
NM_001130823.3(DNMT1):c.3231C>T (p.Thr1077=)
NM_001130823.3(DNMT1):c.3261C>T (p.Cys1087=) rs374021326
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) rs144685297
NM_001130823.3(DNMT1):c.3282C>T (p.Gly1094=)
NM_001130823.3(DNMT1):c.3285C>A (p.Gly1095=)
NM_001130823.3(DNMT1):c.333C>T (p.Asn111=)
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=) rs897612567
NM_001130823.3(DNMT1):c.3459C>T (p.Pro1153=) rs1599347635
NM_001130823.3(DNMT1):c.3489C>A (p.Gly1163=)
NM_001130823.3(DNMT1):c.3523+10C>T
NM_001130823.3(DNMT1):c.3546C>T (p.Ala1182=) rs775884429
NM_001130823.3(DNMT1):c.3576G>A (p.Ala1192=) rs772752543
NM_001130823.3(DNMT1):c.3594C>T (p.Pro1198=) rs375481300
NM_001130823.3(DNMT1):c.3657C>T (p.Thr1219=)
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) rs147755768
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) rs145657360
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)
NM_001130823.3(DNMT1):c.3738C>T (p.Ser1246=)
NM_001130823.3(DNMT1):c.3806+6C>T rs371779379
NM_001130823.3(DNMT1):c.3807-10C>T rs1298476442
NM_001130823.3(DNMT1):c.3807-4A>G rs1599345906
NM_001130823.3(DNMT1):c.3816C>T (p.Asp1272=) rs1462626927
NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) rs1405376714
NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) rs1436599621
NM_001130823.3(DNMT1):c.3870C>T (p.Phe1290=)
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867
NM_001130823.3(DNMT1):c.3888G>A (p.Leu1296=)
NM_001130823.3(DNMT1):c.390A>G (p.Lys130=) rs373499917
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813
NM_001130823.3(DNMT1):c.3949-5C>G rs773047717
NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=) rs139728982
NM_001130823.3(DNMT1):c.3975T>C (p.Thr1325=) rs768712864
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567
NM_001130823.3(DNMT1):c.4044C>T (p.His1348=)
NM_001130823.3(DNMT1):c.4056C>T (p.Pro1352=) rs540856211
NM_001130823.3(DNMT1):c.4089C>T (p.Asp1363=)
NM_001130823.3(DNMT1):c.4140C>T (p.Thr1380=) rs749741623
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) rs184125970
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
NM_001130823.3(DNMT1):c.4185T>C (p.Asn1395=) rs777085751
NM_001130823.3(DNMT1):c.4197A>C (p.Ala1399=) rs764029022
NM_001130823.3(DNMT1):c.4209C>T (p.Ser1403=) rs1599342899
NM_001130823.3(DNMT1):c.4215C>T (p.Asn1405=)
NM_001130823.3(DNMT1):c.4260G>A (p.Gln1420=)
NM_001130823.3(DNMT1):c.4272C>A (p.Ile1424=)
NM_001130823.3(DNMT1):c.4302T>C (p.Ser1434=)
NM_001130823.3(DNMT1):c.4392C>T (p.Asp1464=) rs200416276
NM_001130823.3(DNMT1):c.4404C>G (p.Ala1468=)
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.445+10G>A rs774111566
NM_001130823.3(DNMT1):c.4490-4C>T rs764747230
NM_001130823.3(DNMT1):c.4539C>T (p.Pro1513=) rs756678908
NM_001130823.3(DNMT1):c.4557C>T (p.Thr1519=)
NM_001130823.3(DNMT1):c.4590T>C (p.Tyr1530=) rs1599339925
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=) rs761534071
NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=) rs760037814
NM_001130823.3(DNMT1):c.4657-7C>T rs1336734666
NM_001130823.3(DNMT1):c.4659C>T (p.Gly1553=) rs1599339344
NM_001130823.3(DNMT1):c.4671C>T (p.His1557=) rs779173731
NM_001130823.3(DNMT1):c.4692G>T (p.Val1564=)
NM_001130823.3(DNMT1):c.4695C>T (p.Ser1565=)
NM_001130823.3(DNMT1):c.4722C>A (p.Gly1574=) rs369472235
NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=)
NM_001130823.3(DNMT1):c.4752C>T (p.Asn1584=) rs1599339143
NM_001130823.3(DNMT1):c.4761C>T (p.Asp1587=)
NM_001130823.3(DNMT1):c.4779C>A (p.Gly1593=)
NM_001130823.3(DNMT1):c.4779C>G (p.Gly1593=)
NM_001130823.3(DNMT1):c.4785C>T (p.Ala1595=) rs750364214
NM_001130823.3(DNMT1):c.4816T>C (p.Leu1606=) rs147713850
NM_001130823.3(DNMT1):c.4839G>A (p.Leu1613=) rs1599336526
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098
NM_001130823.3(DNMT1):c.493+7G>A rs1177224966
NM_001130823.3(DNMT1):c.493+8C>T rs138998574
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) rs201319352
NM_001130823.3(DNMT1):c.569+10C>T rs781605215
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089
NM_001130823.3(DNMT1):c.615G>A (p.Ser205=)
NM_001130823.3(DNMT1):c.649-5C>T rs1316294712
NM_001130823.3(DNMT1):c.66C>T (p.Asp22=) rs1452702742
NM_001130823.3(DNMT1):c.684-5G>C
NM_001130823.3(DNMT1):c.687T>G (p.Val229=) rs61758429
NM_001130823.3(DNMT1):c.694C>A (p.Pro232Thr) rs374856119
NM_001130823.3(DNMT1):c.702T>C (p.Pro234=)
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.768+7C>T
NM_001130823.3(DNMT1):c.81-3C>T rs76503110
NM_001130823.3(DNMT1):c.81-7C>T rs1555695845
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502
NM_001130823.3(DNMT1):c.873C>T (p.Asp291=)
NM_001130823.3(DNMT1):c.885C>T (p.Asp295=) rs767084989
NM_001130823.3(DNMT1):c.891+9G>A rs375464404
NM_001130823.3(DNMT1):c.957A>G (p.Glu319=) rs1179101598
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431
NM_001130823.3(DNMT1):c.984T>A (p.Ser328=) rs778332634
NM_001142386.3(PDK3):c.1077+7C>A rs1254633549
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.198T>C (p.Leu66=) rs780465553
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.596-7C>T rs761112580
NM_001145661.2(GATA2):c.1017+8C>T rs200848213
NM_001145661.2(GATA2):c.1018-5C>T rs769196688
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) rs376360090
NM_001145661.2(GATA2):c.1029A>G (p.Arg343=) rs1415762927
NM_001145661.2(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.108C>G (p.Pro36=) rs1553771148
NM_001145661.2(GATA2):c.1095C>T (p.Asn365=) rs146814201
NM_001145661.2(GATA2):c.1113C>T (p.Asn371=) rs376003468
NM_001145661.2(GATA2):c.1128C>T (p.Tyr376=) rs750890699
NM_001145661.2(GATA2):c.1143+9G>A rs533617078
NM_001145661.2(GATA2):c.1144-10T>C rs1060503830
NM_001145661.2(GATA2):c.1144-6C>T rs878855167
NM_001145661.2(GATA2):c.1185T>C (p.Thr395=) rs771739064
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) rs143590990
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1302T>G (p.Ala434=) rs971128233
NM_001145661.2(GATA2):c.1326C>T (p.His442=) rs886057929
NM_001145661.2(GATA2):c.1329C>G (p.Leu443=) rs769577309
NM_001145661.2(GATA2):c.1359G>A (p.Leu453=) rs878855168
NM_001145661.2(GATA2):c.1380C>T (p.His460=) rs1033366779
NM_001145661.2(GATA2):c.1386C>T (p.Ser462=) rs1060503833
NM_001145661.2(GATA2):c.1410C>T (p.Pro470=) rs878855169
NM_001145661.2(GATA2):c.1428G>A (p.Val476=) rs1553770387
NM_001145661.2(GATA2):c.153C>T (p.His51=) rs1416891061
NM_001145661.2(GATA2):c.156C>G (p.Leu52=) rs201821076
NM_001145661.2(GATA2):c.177C>T (p.Tyr59=) rs146150325
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) rs886057932
NM_001145661.2(GATA2):c.208G>T (p.Val70Phe) rs570531959
NM_001145661.2(GATA2):c.213C>T (p.Ser71=) rs759513417
NM_001145661.2(GATA2):c.255C>T (p.Cys85=) rs1553771065
NM_001145661.2(GATA2):c.279G>T (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.363C>T (p.Phe121=) rs1352824690
NM_001145661.2(GATA2):c.375A>C (p.Pro125=) rs763281230
NM_001145661.2(GATA2):c.423C>T (p.Tyr141=) rs781744898
NM_001145661.2(GATA2):c.42G>T (p.Pro14=) rs372722885
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.45C>G (p.Ala15=) rs1278414376
NM_001145661.2(GATA2):c.492C>A (p.Ala164=) rs1363204381
NM_001145661.2(GATA2):c.573G>A (p.Ala191=) rs1060503832
NM_001145661.2(GATA2):c.639C>T (p.Tyr213=) rs372455331
NM_001145661.2(GATA2):c.63C>T (p.His21=) rs535362527
NM_001145661.2(GATA2):c.649C>T (p.Leu217=) rs369356562
NM_001145661.2(GATA2):c.657G>A (p.Glu219=) rs138688940
NM_001145661.2(GATA2):c.684C>T (p.Pro228=) rs913494641
NM_001145661.2(GATA2):c.729C>T (p.His243=) rs369673069
NM_001145661.2(GATA2):c.732C>T (p.His244=) rs954005309
NM_001145661.2(GATA2):c.792C>T (p.Leu264=) rs1060503831
NM_001145661.2(GATA2):c.801C>T (p.Pro267=) rs376351188
NM_001145661.2(GATA2):c.888C>T (p.Val296=) rs574218913
NM_001145661.2(GATA2):c.927C>T (p.Asp309=) rs750077677
NM_001145661.2(GATA2):c.933C>T (p.Thr311=) rs774280897
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=)
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=)
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) rs1178639246
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=)
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) rs1243475474
NM_001199107.2(TBC1D24):c.1142+7C>A
NM_001199107.2(TBC1D24):c.1143-5G>A
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=)
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.1207-7C>T
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=)
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=)
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341
NM_001199107.2(TBC1D24):c.1302+9G>A
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=)
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=)
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=)
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=)
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=)
NM_001199107.2(TBC1D24):c.144C>T (p.His48=)
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=)
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=)
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=)
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=)
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) rs1060502501
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=)
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=)
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) rs749237671
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=)
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=)
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=)
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=)
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=)
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=)
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=)
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=)
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=)
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=)
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=)
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=)
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194
NM_001199107.2(TBC1D24):c.965+7C>T
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711
NM_001199107.2(TBC1D24):c.984-5C>T
NM_001199107.2(TBC1D24):c.984-7C>T
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=)
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile)
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=)
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=)
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=)
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=)
NM_001378454.1(ALMS1):c.10078+7G>A
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=)
NM_001378454.1(ALMS1):c.10214-4G>A
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=)
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=)
NM_001378454.1(ALMS1):c.10385-7T>A
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=)
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=)
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=)
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=)
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=)
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=)
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=)
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=)
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=)
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=)
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=)
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=)
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=)
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=)
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=)
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=)
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=)
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=)
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=)
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=)
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=)
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=)
NM_001378454.1(ALMS1):c.111G>T (p.Val37=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=)
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=)
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=)
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=)
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=)
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=)
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=)
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=)
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=)
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=)
NM_001378454.1(ALMS1):c.11547+7G>A
NM_001378454.1(ALMS1):c.11548-5T>C
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=)
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)
NM_001378454.1(ALMS1):c.11668+9T>C
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=)
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=)
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=)
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=)
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=)
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=)
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=)
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=)
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=)
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=)
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=)
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=)
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=)
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=)
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=)
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=)
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=)
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=)
NM_001378454.1(ALMS1):c.120A>G (p.Val40=)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=)
NM_001378454.1(ALMS1):c.12114+5_12114+66dup
NM_001378454.1(ALMS1):c.12115-7C>T
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=)
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=)
NM_001378454.1(ALMS1):c.12298+10G>A
NM_001378454.1(ALMS1):c.12298+10G>T
NM_001378454.1(ALMS1):c.12362+7C>A
NM_001378454.1(ALMS1):c.1238-5T>C
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=)
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=)
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=)
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=)
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=)
NM_001378454.1(ALMS1):c.126C>T (p.Val42=)
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=)
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=)
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=)
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=)
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=)
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=)
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=)
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=)
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=)
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=)
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=)
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=)
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=)
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=)
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=)
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=)
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=)
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=)
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=)
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=)
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=)
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=)
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=)
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=)
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=)
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=)
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=)
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=)
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=)
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=)
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=)
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=)
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=)
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=)
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=)
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=)
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=)
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=)
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=)
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=)
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=)
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=)
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=)
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=)
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=)
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=)
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=)
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=)
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=)
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=)
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=)
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=)
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=)
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=)
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=)
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=)
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=)
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=)
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=)
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=)
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=)
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=)
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=)
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=)
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=)
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=)
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=)
NM_001378454.1(ALMS1):c.348A>G (p.Val116=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=)
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=)
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=)
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=)
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=)
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=)
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=)
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=)
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=)
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=)
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=)
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=)
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=)
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=)
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=)
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=)
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=)
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=)
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=)
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=)
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=)
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=)
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=)
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=)
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=)
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=)
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=)
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=)
NM_001378454.1(ALMS1):c.451-4C>G
NM_001378454.1(ALMS1):c.451-5T>C
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=)
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=)
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=)
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=)
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=)
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=)
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=)
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=)
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=)
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=)
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=)
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=)
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=)
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=)
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=)
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=)
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=)
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=)
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=)
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=)
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=)
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=)
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=)
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=)
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=)
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=)
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=)
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=)
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=)
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=)
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=)
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=)
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=)
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=)
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=)
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=)
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=)
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=)
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=)
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=)
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=)
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=)
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=)
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=)
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=)
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=)
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=)
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=)
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=)
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=)
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=)
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=)
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=)
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=)
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=)
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=)
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=)
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=)
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=)
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=)
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=)
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=)
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=)
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=)
NM_001378454.1(ALMS1):c.7540+10A>G
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=)
NM_001378454.1(ALMS1):c.765-10A>G
NM_001378454.1(ALMS1):c.765-8A>G
NM_001378454.1(ALMS1):c.7675-9A>G
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=)
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=)
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=)
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=)
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=)
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=)
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=)
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=)
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=)
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=)
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=)
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=)
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=)
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=)
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=)
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=)
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=)
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=)
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=)
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=)
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=)
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=)
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=)
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=)
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=)
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=)
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=)
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=)
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=)
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=)
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=)
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=)
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=)
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=)
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=)
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=)
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=)
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=)
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=)
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=)
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=)
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=)
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=)
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=)
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=)
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=)
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=)
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=)
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=)
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=)
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=)
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=)
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=)
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=)
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=)
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=)
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=)
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=)
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=)
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=)
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=)
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=)
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=)
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=)
NM_001378454.1(ALMS1):c.9907+8G>A
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=)
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=)
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=)
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=)
NM_001379200.1(TBX1):c.1037-10C>T
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=)
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=)
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3]) rs1288296547
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln)
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=)
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=)
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=)
NM_001379200.1(TBX1):c.1269C>T (p.His423=)
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=)
NM_001379200.1(TBX1):c.1359C>T (p.His453=)
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=)
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=)
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=)
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=)
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.198C>T (p.Ala66=)
NM_001379200.1(TBX1):c.273C>T (p.Ala91=)
NM_001379200.1(TBX1):c.318C>G (p.Ala106=)
NM_001379200.1(TBX1):c.399C>T (p.Asn133=)
NM_001379200.1(TBX1):c.437+10C>T
NM_001379200.1(TBX1):c.539+7G>A
NM_001379200.1(TBX1):c.539+8_539+10dup
NM_001379200.1(TBX1):c.540-15C>G
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=)
NM_001379200.1(TBX1):c.546C>T (p.Ala182=)
NM_001379200.1(TBX1):c.654A>G (p.Gln218=)
NM_001379200.1(TBX1):c.663C>T (p.Ser221=)
NM_001379200.1(TBX1):c.699C>T (p.Asp233=)
NM_001379200.1(TBX1):c.711+7G>A
NM_001379200.1(TBX1):c.831A>T (p.Thr277=)
NM_001379200.1(TBX1):c.915G>C (p.Arg305=)
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala)
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.831C>T (p.Thr277=)
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869
NM_001614.5(ACTG1):c.984+7C>T rs369691985
NM_001614.5(ACTG1):c.985-7dup rs782289893
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1086C>T (p.Arg362=)
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344
NM_002109.6(HARS1):c.1124G>A (p.Arg375His) rs151258227
NM_002109.6(HARS1):c.1176C>T (p.Ile392=)
NM_002109.6(HARS1):c.1194+20T>C
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys)
NM_002109.6(HARS1):c.1213C>A (p.Arg405=) rs908109064
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370
NM_002109.6(HARS1):c.1312-8C>T rs772505507
NM_002109.6(HARS1):c.1323G>A (p.Leu441=)
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=)
NM_002109.6(HARS1):c.132G>A (p.Gln44=)
NM_002109.6(HARS1):c.1344A>G (p.Leu448=)
NM_002109.6(HARS1):c.1398C>T (p.Ile466=) rs766088180
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)
NM_002109.6(HARS1):c.1446G>A (p.Thr482=)
NM_002109.6(HARS1):c.1479C>T (p.Asp493=) rs1366581698
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro) rs201398055
NM_002109.6(HARS1):c.165G>A (p.Val55=)
NM_002109.6(HARS1):c.174C>G (p.Thr58=)
NM_002109.6(HARS1):c.174C>T (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.177C>T (p.Pro59=)
NM_002109.6(HARS1):c.180+8C>A
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg) rs749493279
NM_002109.6(HARS1):c.390C>T (p.Asp130=) rs754863405
NM_002109.6(HARS1):c.39T>G (p.Leu13=) rs1453807986
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.477T>C (p.Asp159=)
NM_002109.6(HARS1):c.501A>T (p.Arg167=)
NM_002109.6(HARS1):c.519G>A (p.Gln173=)
NM_002109.6(HARS1):c.522+8T>C
NM_002109.6(HARS1):c.561T>C (p.Pro187=)
NM_002109.6(HARS1):c.615C>T (p.Gly205=)
NM_002109.6(HARS1):c.622C>T (p.Leu208=) rs754094386
NM_002109.6(HARS1):c.630+12C>T
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)
NM_002109.6(HARS1):c.669C>T (p.Ile223=)
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848
NM_002109.6(HARS1):c.723G>A (p.Leu241=)
NM_002109.6(HARS1):c.726C>T (p.Asp242=)
NM_002109.6(HARS1):c.72G>A (p.Gln24=) rs148516171
NM_002109.6(HARS1):c.730-10G>C rs1581505929
NM_002109.6(HARS1):c.789G>A (p.Val263=)
NM_002109.6(HARS1):c.852C>T (p.Leu284=)
NM_002109.6(HARS1):c.882G>A (p.Gln294=)
NM_002109.6(HARS1):c.885C>T (p.Ala295=)
NM_002109.6(HARS1):c.897G>C (p.Leu299=)
NM_002109.6(HARS1):c.91-7T>C
NM_002109.6(HARS1):c.924C>T (p.Tyr308=)
NM_002109.6(HARS1):c.951+18C>T
NM_002109.6(HARS1):c.951+8A>C
NM_002109.6(HARS1):c.952-4A>G
NM_002109.6(HARS1):c.963C>T (p.Asp321=)
NM_002109.6(HARS1):c.976C>A (p.Arg326=)
NM_002241.5(KCNJ10):c.1032C>T (p.Asp344=)
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425
NM_002241.5(KCNJ10):c.1069T>C (p.Leu357=)
NM_002241.5(KCNJ10):c.1101G>A (p.Lys367=)
NM_002241.5(KCNJ10):c.1104G>A (p.Glu368=)
NM_002241.5(KCNJ10):c.1110T>C (p.Ser370=)
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619
NM_002241.5(KCNJ10):c.117G>A (p.Val39=)
NM_002241.5(KCNJ10):c.117G>T (p.Val39=) rs898999212
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861
NM_002241.5(KCNJ10):c.222C>T (p.Thr74=)
NM_002241.5(KCNJ10):c.225T>C (p.Phe75=) rs757159382
NM_002241.5(KCNJ10):c.234A>G (p.Thr78=)
NM_002241.5(KCNJ10):c.240C>T (p.Phe80=) rs774758209
NM_002241.5(KCNJ10):c.273G>A (p.Val91=) rs745340219
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002241.5(KCNJ10):c.300C>T (p.Asp100=) rs139069413
NM_002241.5(KCNJ10):c.312C>T (p.Asn104=)
NM_002241.5(KCNJ10):c.339C>T (p.His113=)
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483
NM_002241.5(KCNJ10):c.459C>T (p.Leu153=)
NM_002241.5(KCNJ10):c.496C>T (p.Leu166=)
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380
NM_002241.5(KCNJ10):c.54G>A (p.Arg18=)
NM_002241.5(KCNJ10):c.684C>T (p.Asn228=) rs533587041
NM_002241.5(KCNJ10):c.732T>C (p.Ser244=)
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296
NM_002241.5(KCNJ10):c.771T>C (p.His257=) rs775848365
NM_002241.5(KCNJ10):c.91C>T (p.Leu31=)
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787
NM_002241.5(KCNJ10):c.93G>A (p.Leu31=)
NM_002241.5(KCNJ10):c.984C>T (p.Ser328=)
NM_002241.5(KCNJ10):c.993C>T (p.Asp331=) rs1240138840
NM_002601.4(PDE6D):c.140-3C>T rs368073853
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084
NM_002968.2(SALL1):c.1014T>G (p.Ser338=) rs960886445
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966
NM_002968.2(SALL1):c.351C>T (p.Asn117=) rs145806303
NM_002968.2(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.3(SALL1):c.2181A>G (p.Thr727=)
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr) rs144782810
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=)
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) rs138153478
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
NM_003611.3(OFD1):c.12+10C>A
NM_003611.3(OFD1):c.1221+7_1221+8del
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1737G>A (p.Val579=) rs766430580
NM_003611.3(OFD1):c.1993C>T (p.Leu665=)
NM_003611.3(OFD1):c.2139C>T (p.Val713=)
NM_003611.3(OFD1):c.2169G>A (p.Ser723=)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.2499C>T (p.Asn833=)
NM_003611.3(OFD1):c.2538C>T (p.Ala846=)
NM_003611.3(OFD1):c.2600-7del
NM_003611.3(OFD1):c.2784T>A (p.Ile928=)
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.2895C>T (p.Ile965=)
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln)
NM_003611.3(OFD1):c.393T>G (p.Ser131=)
NM_003611.3(OFD1):c.412+10G>T
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu)
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=) rs748386464
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=)
NM_005219.5(DIAPH1):c.1044+9T>C rs1363077545
NM_005219.5(DIAPH1):c.1045-11G>A
NM_005219.5(DIAPH1):c.1045-9T>G
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=)
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=)
NM_005219.5(DIAPH1):c.117+10C>T
NM_005219.5(DIAPH1):c.118-9G>A rs1346309649
NM_005219.5(DIAPH1):c.118-9G>C
NM_005219.5(DIAPH1):c.1280+7T>C
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977
NM_005219.5(DIAPH1):c.1396+9A>G
NM_005219.5(DIAPH1):c.1397-14CTT[2] rs771642064
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005219.5(DIAPH1):c.145-5C>A rs1596392507
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG
NM_005219.5(DIAPH1):c.1462-14C>T
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=)
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=) rs746419756
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=)
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=) rs369024454
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=)
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=) rs1044362474
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=) rs1554208002
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=)
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=) rs745739994
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=)
NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=)
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=)
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=) rs1361779351
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=)
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=)
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478
NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=)
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=) rs372347802
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=)
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=)
NM_005219.5(DIAPH1):c.2473+9C>T rs370441015
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=)
NM_005219.5(DIAPH1):c.2778+10G>A rs374601448
NM_005219.5(DIAPH1):c.2779-6del rs1431116673
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=)
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=)
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=) rs1554201404
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=)
NM_005219.5(DIAPH1):c.301-5C>T rs190481949
NM_005219.5(DIAPH1):c.3019-8T>C rs749822608
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=)
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=) rs899924262
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=)
NM_005219.5(DIAPH1):c.3149-7_3149-6insG
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=) rs753783398
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=)
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=)
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670
NM_005219.5(DIAPH1):c.3439-5C>T rs768948411
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=)
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) rs369467830
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=)
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=) rs1596337059
NM_005219.5(DIAPH1):c.3574+10G>A
NM_005219.5(DIAPH1):c.3574+8G>C
NM_005219.5(DIAPH1):c.3575-6T>A
NM_005219.5(DIAPH1):c.3661+8A>G
NM_005219.5(DIAPH1):c.3662-4G>A rs756395607
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=) rs1596330582
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=) rs1596330476
NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)
NM_005219.5(DIAPH1):c.402+8C>T
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=)
NM_005219.5(DIAPH1):c.621-8A>G rs1393894659
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682
NM_005219.5(DIAPH1):c.685-5A>G rs367786290
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=)
NM_005219.5(DIAPH1):c.735C>T (p.Val245=)
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=)
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=) rs745385668
NM_005219.5(DIAPH1):c.825-20G>C
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=)
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=)
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319
NM_005236.2(ERCC4):c.1123C>T (p.Leu375=) rs376695854
NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) rs3136151
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) rs139406689
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084
NM_005236.2(ERCC4):c.906T>C (p.Asp302=) rs148003381
NM_005236.3(ERCC4):c.1102+7T>A
NM_005236.3(ERCC4):c.1214-4T>G
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598
NM_005236.3(ERCC4):c.15G>A (p.Gln5=)
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
NM_005236.3(ERCC4):c.1971A>G (p.Val657=)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
NM_005236.3(ERCC4):c.208-6A>G rs1596617926
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=)
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
NM_005236.3(ERCC4):c.2421T>C (p.His807=)
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=)
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
NM_005236.3(ERCC4):c.2607C>T (p.His869=)
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=)
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905
NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060
NM_005360.5(MAF):c.528C>G (p.Gly176=)
NM_005360.5(MAF):c.649G>A (p.Gly217Ser)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184
NM_005391.4(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_005391.4(PDK3):c.751-10A>G rs372774822
NM_005391.5(PDK3):c.1077+13_1077+16del
NM_005391.5(PDK3):c.1078-3_1078-2dup
NM_005391.5(PDK3):c.1125C>T (p.Ser375=)
NM_005391.5(PDK3):c.1161T>C (p.Asp387=)
NM_005391.5(PDK3):c.231G>T (p.Val77=)
NM_005391.5(PDK3):c.321-8T>A
NM_005391.5(PDK3):c.327A>G (p.Leu109=)
NM_005391.5(PDK3):c.506-7C>T
NM_005391.5(PDK3):c.673+10A>G
NM_005391.5(PDK3):c.687C>T (p.Asp229=)
NM_005391.5(PDK3):c.816C>A (p.Thr272=)
NM_005391.5(PDK3):c.995G>A (p.Arg332His)
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522
NM_005982.4(SIX1):c.720C>T (p.His240=)
NM_012431.3(SEMA3E):c.116-15C>T
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=)
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=)
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)
NM_012431.3(SEMA3E):c.1667+7C>T
NM_012431.3(SEMA3E):c.1668-10T>G
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849
NM_012431.3(SEMA3E):c.1977T>C (p.His659=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=)
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=)
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=)
NM_012431.3(SEMA3E):c.670+12G>A
NM_012431.3(SEMA3E):c.671-10G>A rs372840645
NM_012431.3(SEMA3E):c.671-7C>T
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781
NM_012431.3(SEMA3E):c.780C>T (p.His260=)
NM_012431.3(SEMA3E):c.798C>T (p.Val266=)
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=)
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=)
NM_012431.3(SEMA3E):c.999-9A>G rs776954864
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=)
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) rs754947736
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) rs368276647
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) rs145837770
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) rs751409111
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=)
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900
NM_014918.5(CHSY1):c.582C>G (p.Leu194=)
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) rs145031427
NM_014918.5(CHSY1):c.798G>A (p.Gln266=)
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=)
NM_015120.4(ALMS1):c.10023G>A (p.Arg3341=) rs746166271
NM_015120.4(ALMS1):c.10026A>G (p.Val3342=) rs770072519
NM_015120.4(ALMS1):c.10041C>T (p.Ser3347=) rs375436336
NM_015120.4(ALMS1):c.10081+10T>C rs752454047
NM_015120.4(ALMS1):c.10082-10G>A rs778996015
NM_015120.4(ALMS1):c.10089A>G (p.Ser3363=) rs747033366
NM_015120.4(ALMS1):c.10140A>G (p.Gln3380=) rs756623131
NM_015120.4(ALMS1):c.10216+7A>G rs1553416882
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=) rs754938453
NM_015120.4(ALMS1):c.10227T>C (p.Ala3409=) rs1464934308
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=) rs376519124
NM_015120.4(ALMS1):c.10371A>G (p.Leu3457=) rs929142880
NM_015120.4(ALMS1):c.10392C>T (p.Ser3464=) rs760299487
NM_015120.4(ALMS1):c.1044A>G (p.Ser348=) rs1553400737
NM_015120.4(ALMS1):c.10464C>T (p.Pro3488=) rs202036843
NM_015120.4(ALMS1):c.105G>C (p.Ala35=) rs1574423870
NM_015120.4(ALMS1):c.10614G>A (p.Lys3538=) rs1470146152
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10777A>C (p.Thr3593Pro) rs200467041
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10861A>C (p.Arg3621=) rs201598829
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.10971G>C (p.Gly3657=) rs1439789927
NM_015120.4(ALMS1):c.11073C>A (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11073C>T (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11148A>G (p.Lys3716=) rs1573030809
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.11326C>T (p.Leu3776=) rs771595125
NM_015120.4(ALMS1):c.11328G>C (p.Leu3776=) rs1573031104
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.11410C>T (p.Pro3804Ser) rs189032342
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.11577C>T (p.Asp3859=) rs561636004
NM_015120.4(ALMS1):c.11613A>G (p.Ser3871=) rs188172095
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
NM_015120.4(ALMS1):c.11758T>C (p.Leu3920=) rs750372739
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=) rs201924342
NM_015120.4(ALMS1):c.11823C>G (p.Thr3941=) rs565546868
NM_015120.4(ALMS1):c.1182A>C (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11870A>G (p.His3957Arg) rs553786370
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11872+7T>A rs763235048
NM_015120.4(ALMS1):c.12009G>A (p.Arg4003=) rs1573054242
NM_015120.4(ALMS1):c.12039C>T (p.Asp4013=) rs370981817
NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) rs767174517
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12177C>T (p.Arg4059=) rs377661858
NM_015120.4(ALMS1):c.12180G>T (p.Leu4060=) rs1573055527
NM_015120.4(ALMS1):c.12201G>A (p.Arg4067=) rs199603690
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) rs374508659
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12301+7C>T rs1252100215
NM_015120.4(ALMS1):c.12302-6G>A rs771317399
NM_015120.4(ALMS1):c.12324C>T (p.Asn4108=) rs767420244
NM_015120.4(ALMS1):c.12357G>A (p.Arg4119=) rs546745992
NM_015120.4(ALMS1):c.1237+10C>G rs1291450244
NM_015120.4(ALMS1):c.1238-9A>G rs372652836
NM_015120.4(ALMS1):c.1240+8C>A rs771449454
NM_015120.4(ALMS1):c.1240+9C>T rs201471551
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12463-4A>G rs755283383
NM_015120.4(ALMS1):c.12466-9C>G rs1553422761
NM_015120.4(ALMS1):c.1275T>C (p.Ile425=) rs544932125
NM_015120.4(ALMS1):c.1342-8C>T rs1553401596
NM_015120.4(ALMS1):c.1356G>A (p.Ser452=) rs370873335
NM_015120.4(ALMS1):c.1389G>A (p.Arg463=) rs749794703
NM_015120.4(ALMS1):c.1435+7A>G rs1468328132
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
NM_015120.4(ALMS1):c.1473A>G (p.Gln491=) rs769982352
NM_015120.4(ALMS1):c.1524A>C (p.Gly508=) rs760374410
NM_015120.4(ALMS1):c.1551C>G (p.Asp517Glu) rs202002052
NM_015120.4(ALMS1):c.1560G>A (p.Gln520=) rs764869245
NM_015120.4(ALMS1):c.1569A>G (p.Val523=) rs1411790516
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1734T>C (p.His578=) rs768761501
NM_015120.4(ALMS1):c.1737G>A (p.Arg579=) rs1027908105
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=) rs369744185
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1869C>T (p.Tyr623=) rs1474922476
NM_015120.4(ALMS1):c.1887T>C (p.Pro629=) rs373831151
NM_015120.4(ALMS1):c.1929C>T (p.Thr643=) rs745591025
NM_015120.4(ALMS1):c.1965A>G (p.Pro655=) rs1572931748
NM_015120.4(ALMS1):c.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.2025C>T (p.Asp675=) rs374151754
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2052G>A (p.Leu684=) rs1572931934
NM_015120.4(ALMS1):c.2082G>C (p.Leu694=) rs1320005523
NM_015120.4(ALMS1):c.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2097G>T (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2125A>G (p.Thr709Ala) rs571389435
NM_015120.4(ALMS1):c.2139C>T (p.Leu713=) rs747504060
NM_015120.4(ALMS1):c.2190G>A (p.Glu730=) rs536950181
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2484C>T (p.Asp828=) rs748371743
NM_015120.4(ALMS1):c.2496C>T (p.Pro832=) rs561060460
NM_015120.4(ALMS1):c.2520T>G (p.Ala840=) rs765949316
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.282C>G (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.282C>T (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.2883A>G (p.Lys961=) rs1238528749
NM_015120.4(ALMS1):c.2925A>T (p.Leu975=) rs199769789
NM_015120.4(ALMS1):c.2928T>C (p.Pro976=) rs751486678
NM_015120.4(ALMS1):c.2964G>A (p.Leu988=) rs745503022
NM_015120.4(ALMS1):c.3012C>T (p.Phe1004=) rs1572933379
NM_015120.4(ALMS1):c.318C>T (p.Ser106=) rs754611450
NM_015120.4(ALMS1):c.3249A>G (p.Pro1083=) rs532389598
NM_015120.4(ALMS1):c.325-8A>G rs200740825
NM_015120.4(ALMS1):c.327+10G>C rs778690416
NM_015120.4(ALMS1):c.328-6T>C rs760582213
NM_015120.4(ALMS1):c.328-8A>C rs200740825
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3402G>A (p.Lys1134=) rs376683428
NM_015120.4(ALMS1):c.348T>C (p.His116=) rs1572904510
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3828A>G (p.Thr1276=) rs1553403752
NM_015120.4(ALMS1):c.3870T>C (p.Tyr1290=) rs369314182
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.3948G>A (p.Ala1316=) rs201474138
NM_015120.4(ALMS1):c.4074T>G (p.Ala1358=) rs1572934855
NM_015120.4(ALMS1):c.4143T>C (p.Ser1381=) rs1362041238
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=) rs758814503
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4344T>C (p.His1448=) rs770081169
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.435G>A (p.Arg145=) rs772143925
NM_015120.4(ALMS1):c.4360T>C (p.Leu1454=) rs879109152
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.453+7C>A rs775200355
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.4545C>T (p.Gly1515=) rs763511170
NM_015120.4(ALMS1):c.4650A>G (p.Arg1550=) rs564445910
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4761A>G (p.Pro1587=) rs778600773
NM_015120.4(ALMS1):c.4764T>C (p.Asp1588=) rs747858041
NM_015120.4(ALMS1):c.4830C>T (p.Asp1610=) rs371708421
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.4902A>G (p.Leu1634=) rs1060503816
NM_015120.4(ALMS1):c.4905C>T (p.Asp1635=) rs1553403951
NM_015120.4(ALMS1):c.4923G>A (p.Glu1641=) rs1572935943
NM_015120.4(ALMS1):c.4941T>G (p.Ala1647=) rs767547246
NM_015120.4(ALMS1):c.4998C>T (p.Tyr1666=) rs762003836
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5313G>A (p.Gln1771=) rs778267451
NM_015120.4(ALMS1):c.5331T>C (p.Ser1777=) rs745907642
NM_015120.4(ALMS1):c.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.5358T>G (p.Val1786=) rs1420283861
NM_015120.4(ALMS1):c.5450A>G (p.Tyr1817Cys) rs780110659
NM_015120.4(ALMS1):c.5499A>G (p.Arg1833=) rs1572936704
NM_015120.4(ALMS1):c.54G>A (p.Glu18=) rs1553396127
NM_015120.4(ALMS1):c.5535C>T (p.Asn1845=) rs369656698
NM_015120.4(ALMS1):c.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.5568G>A (p.Glu1856=) rs535259433
NM_015120.4(ALMS1):c.561C>T (p.Asp187=) rs370228166
NM_015120.4(ALMS1):c.5676A>C (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5676A>T (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5831G>A (p.Arg1944His) rs146669152
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.6148T>A (p.Ser2050Thr) rs17848882
NM_015120.4(ALMS1):c.6282T>C (p.Ser2094=) rs1572937640
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6306G>A (p.Ser2102=) rs555344566
NM_015120.4(ALMS1):c.63G>A (p.Glu21=) rs183407241
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.646+8C>G rs760012033
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.650-4A>G rs1553400427
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.7008T>C (p.Asp2336=) rs781592497
NM_015120.4(ALMS1):c.7020G>A (p.Gln2340=) rs190319211
NM_015120.4(ALMS1):c.7023G>A (p.Thr2341=) rs760756852
NM_015120.4(ALMS1):c.7128A>G (p.Glu2376=) rs1043215081
NM_015120.4(ALMS1):c.7185G>A (p.Gly2395=) rs1572938646
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7284G>A (p.Ser2428=) rs200684911
NM_015120.4(ALMS1):c.7359C>T (p.Pro2453=) rs1290880090
NM_015120.4(ALMS1):c.7476C>T (p.Ser2492=) rs1572938980
NM_015120.4(ALMS1):c.7503C>T (p.Leu2501=) rs751719112
NM_015120.4(ALMS1):c.7541-8C>T rs1553404629
NM_015120.4(ALMS1):c.7544-6C>T rs1408073039
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.7653T>C (p.His2551=) rs756901095
NM_015120.4(ALMS1):c.767+9A>T rs551013858
NM_015120.4(ALMS1):c.7677+9G>T rs1046548369
NM_015120.4(ALMS1):c.768-6T>A rs755762723
NM_015120.4(ALMS1):c.7722A>G (p.Val2574=) rs561565809
NM_015120.4(ALMS1):c.7764C>T (p.Phe2588=) rs1553409598
NM_015120.4(ALMS1):c.7823C>G (p.Ala2608Gly) rs140223281
NM_015120.4(ALMS1):c.7824T>C (p.Ala2608=) rs1034500469
NM_015120.4(ALMS1):c.786T>C (p.Ser262=) rs1572914265
NM_015120.4(ALMS1):c.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.7947A>G (p.Leu2649=) rs1407932856
NM_015120.4(ALMS1):c.7979C>G (p.Pro2660Arg) rs537509954
NM_015120.4(ALMS1):c.8034C>T (p.Asp2678=) rs754078506
NM_015120.4(ALMS1):c.8112G>A (p.Pro2704=) rs759983484
NM_015120.4(ALMS1):c.8145C>T (p.Ser2715=) rs1572969339
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.8382G>A (p.Arg2794=) rs559811855
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8475C>T (p.Pro2825=) rs1467835066
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.861A>G (p.Ser287=) rs748158586
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8724T>C (p.Ser2908=) rs1386201636
NM_015120.4(ALMS1):c.8733T>C (p.His2911=) rs374693631
NM_015120.4(ALMS1):c.8782C>A (p.Arg2928=) rs376244626
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8904A>G (p.Glu2968=) rs371736476
NM_015120.4(ALMS1):c.8921C>T (p.Ala2974Val) rs202110907
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.900G>A (p.Pro300=) rs1296000408
NM_015120.4(ALMS1):c.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
NM_015120.4(ALMS1):c.9183T>C (p.Asp3061=) rs1572970568
NM_015120.4(ALMS1):c.9255C>T (p.Asn3085=) rs1237573573
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.9324A>G (p.Val3108=) rs371108940
NM_015120.4(ALMS1):c.9363A>G (p.Lys3121=) rs368408369
NM_015120.4(ALMS1):c.9384C>T (p.Val3128=) rs754743943
NM_015120.4(ALMS1):c.9387A>G (p.Val3129=) rs752453102
NM_015120.4(ALMS1):c.9483G>A (p.Val3161=) rs752405413
NM_015120.4(ALMS1):c.9539+10_9539+12del rs1572970962
NM_015120.4(ALMS1):c.9542+10A>G rs1553409904
NM_015120.4(ALMS1):c.9603A>C (p.Ala3201=) rs113808259
NM_015120.4(ALMS1):c.9615A>C (p.Ile3205=) rs755456619
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9636G>A (p.Lys3212=) rs373013570
NM_015120.4(ALMS1):c.9639C>T (p.Thr3213=) rs749283920
NM_015120.4(ALMS1):c.9642A>G (p.Leu3214=) rs566943393
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9785-6C>T rs1414733616
NM_015120.4(ALMS1):c.9837T>C (p.Tyr3279=) rs1573000972
NM_015120.4(ALMS1):c.9846A>G (p.Gln3282=) rs1573000980
NM_015120.4(ALMS1):c.9855A>G (p.Gln3285=) rs1558684497
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9888C>T (p.Thr3296=) rs1455531770
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541
NM_015120.4(ALMS1):c.9910+7T>G rs375870610
NM_015120.4(ALMS1):c.9911-12G>A rs376627151
NM_015120.4(ALMS1):c.9911-13C>T rs373325114
NM_015120.4(ALMS1):c.999T>C (p.Ile333=) rs760947833
NM_015631.6(TCTN3):c.1096-14C>A rs41291568
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=)
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956
NM_015631.6(TCTN3):c.1591-4G>A
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) rs139858268
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560
NM_016356.5(DCDC2):c.349-9C>G rs765613994
NM_016356.5(DCDC2):c.471T>G (p.Leu157=)
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg) rs141060456
NM_016356.5(DCDC2):c.543C>T (p.Ser181=) rs141060456
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) rs745333409
NM_016356.5(DCDC2):c.705-4A>C
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) rs144695853
NM_016356.5(DCDC2):c.750T>G (p.Ser250=) rs372157851
NM_016418.5(NF2):c.1000-4G>A rs200113152
NM_016418.5(NF2):c.1000-7C>G rs776237839
NM_016418.5(NF2):c.1446+5G>A rs367829184
NM_016418.5(NF2):c.1575-5G>A rs199622889
NM_016418.5(NF2):c.364-9T>C rs767658752
NM_016418.5(NF2):c.447+15_447+17del rs1555988797
NM_016418.5(NF2):c.448-4C>G rs760733256
NM_016418.5(NF2):c.448-5T>C rs878853928
NM_016418.5(NF2):c.517-4G>A rs1165155285
NM_016418.5(NF2):c.600-6C>T rs749155274
NM_016418.5(NF2):c.885+10G>C rs369317112
NM_017780.4(CHD7):c.102A>G (p.Val34=)
NM_017780.4(CHD7):c.1050T>C (p.Ala350=)
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205
NM_017780.4(CHD7):c.1395C>T (p.Ser465=)
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424
NM_017780.4(CHD7):c.1539C>T (p.Thr513=)
NM_017780.4(CHD7):c.1563G>A (p.Pro521=) rs765356585
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315
NM_017780.4(CHD7):c.1626A>G (p.Pro542=)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=)
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884
NM_017780.4(CHD7):c.168T>C (p.His56=)
NM_017780.4(CHD7):c.1704G>A (p.Pro568=)
NM_017780.4(CHD7):c.1725A>G (p.Gly575=)
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874
NM_017780.4(CHD7):c.1968G>A (p.Pro656=) rs569213080
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2187A>G (p.Lys729=)
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2283A>G (p.Glu761=)
NM_017780.4(CHD7):c.2307T>C (p.Asp769=)
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849
NM_017780.4(CHD7):c.2523A>G (p.Ala841=)
NM_017780.4(CHD7):c.258G>A (p.Pro86=) rs750046226
NM_017780.4(CHD7):c.2613+8dup
NM_017780.4(CHD7):c.2614-7G>T rs762399977
NM_017780.4(CHD7):c.2625G>A (p.Glu875=)
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.4(CHD7):c.2769C>T (p.Asp923=)
NM_017780.4(CHD7):c.276C>T (p.Asn92=) rs779967922
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) rs771367272
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.279C>T (p.Thr93=)
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.2839C>A (p.Arg947=)
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu)
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018
NM_017780.4(CHD7):c.2946T>C (p.Asn982=) rs752803020
NM_017780.4(CHD7):c.297G>A (p.Ala99=)
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449
NM_017780.4(CHD7):c.306C>T (p.His102=)
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=)
NM_017780.4(CHD7):c.309G>C (p.Ser103=)
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=)
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=)
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=)
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) rs1427044855
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381
NM_017780.4(CHD7):c.3525G>A (p.Val1175=)
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=)
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=)
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293
NM_017780.4(CHD7):c.3778+10C>T
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829
NM_017780.4(CHD7):c.3989+7A>G rs757622396
NM_017780.4(CHD7):c.3989+9C>T rs373206209
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=)
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=)
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=)
NM_017780.4(CHD7):c.405G>A (p.Gly135=) rs1586248250
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=)
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=)
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=)
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=)
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=)
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=)
NM_017780.4(CHD7):c.4533+9C>T
NM_017780.4(CHD7):c.4534-4T>G rs762875935
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=)
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=)
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
NM_017780.4(CHD7):c.4850+18C>T
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG
NM_017780.4(CHD7):c.4850+9G>T
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=)
NM_017780.4(CHD7):c.501G>A (p.Pro167=)
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) rs1586432209
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=)
NM_017780.4(CHD7):c.516G>A (p.Pro172=)
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796
NM_017780.4(CHD7):c.5210+20A>G
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.522G>A (p.Pro174=) rs577112542
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=)
NM_017780.4(CHD7):c.5404+10G>A
NM_017780.4(CHD7):c.5404+9C>T rs755413885
NM_017780.4(CHD7):c.5405-8C>T
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=)
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090