ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 892
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HGVS dbSNP
NC_000016.9:g.14013666A>C
NC_000022.10:g.19743424C>T
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000268.4(NF2):c.1340+8G>T rs370604189
NM_000268.4(NF2):c.1341-7C>T rs574718828
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915
NM_000268.4(NF2):c.1752C>T (p.Ser584=) rs370999558
NM_000268.4(NF2):c.240+15C>T rs200701337
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1069C>T (p.Pro357Ser) rs143519179
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1440T>C (p.Asp480=) rs142758482
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1857T>G (p.Ser619Arg) rs140334121
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
NM_000356.4(TCOF1):c.3108G>A (p.Gln1036=) rs147074393
NM_000356.4(TCOF1):c.3195C>T (p.Ser1065=) rs138291748
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.3865A>C (p.Lys1289Gln) rs201234047
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.503C>T (p.Thr168Met) rs181203524
NM_000356.4(TCOF1):c.534C>T (p.Ser178=) rs141250614
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491
NM_000414.4(HSD17B4):c.1334-4del
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.281-7A>G rs35201279
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118
NM_000503.6(EYA1):c.1699-3C>T rs117149407
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398
NM_000503.6(EYA1):c.966+4C>T rs139429307
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1691+7C>A rs199565118
NM_001110556.2(FLNA):c.1692-10G>A rs199740539
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=) rs782155641
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=) rs371909600
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=) rs782543203
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=) rs782114616
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1938C>T (p.His646=) rs369037499
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2405-8_2405-5dup rs782040815
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=) rs782192587
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln)
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=) rs782374592
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=)
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.3979+8_3979+11del rs781854538
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) rs782525345
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=)
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001110556.2(FLNA):c.4598+8G>C rs112379782
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=)
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=) rs782127738
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=) rs782315233
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=) rs375906241
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp) rs371616686
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205
NM_001110556.2(FLNA):c.6227-10C>T
NM_001110556.2(FLNA):c.6227-7C>T rs370491691
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=)
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=) rs372978023
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951
NM_001110556.2(FLNA):c.6503-9A>G rs781919390
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825
NM_001110556.2(FLNA):c.651C>T (p.Asp217=) rs34644500
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=) rs782053982
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu)
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814
NM_001110556.2(FLNA):c.7023+10C>T rs782777494
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.720+9G>A rs781887001
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=) rs782225826
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001110556.2(FLNA):c.7553-10T>C rs782156724
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001110556.2(FLNA):c.869-7C>T rs143311779
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196
NM_001110556.2(FLNA):c.972C>T (p.Ala324=) rs781806385
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.1044-9_1044-8del rs59599980
NM_001130823.3(DNMT1):c.1095C>T (p.His365=) rs116502459
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) rs147235870
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) rs2228613
NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) rs140376680
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186
NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=) rs761852984
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052
NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=) rs374476495
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062
NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=) rs530293931
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) rs534263445
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) rs144675407
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) rs201308454
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) rs140951214
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301
NM_001130823.3(DNMT1):c.4077G>C (p.Val1359=) rs577069147
NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) rs2229858
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718
NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) rs145860233
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) rs576877219
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) rs141264613
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) rs61758430
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) rs2228612
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) rs16999358
NM_001142386.3(PDK3):c.1149G>A (p.Thr383=) rs768286680
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.3(PDK3):c.750+5G>A rs187646579
NM_001145661.2(GATA2):c.*183C>T rs45598538
NM_001145661.2(GATA2):c.1018-19C>T rs11708606
NM_001145661.2(GATA2):c.1143+203A>G rs2713604
NM_001145661.2(GATA2):c.114G>A (p.Gln38=) rs775573177
NM_001145661.2(GATA2):c.1173A>G (p.Glu391=) rs145076941
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) rs376805544
NM_001145661.2(GATA2):c.1431C>T (p.Thr477=) rs754297885
NM_001145661.2(GATA2):c.279G>A (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.333C>T (p.His111=) rs148554346
NM_001145661.2(GATA2):c.480C>T (p.Thr160=) rs199640729
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_001145661.2(GATA2):c.564G>C (p.Thr188=) rs34870876
NM_001145661.2(GATA2):c.66C>G (p.Pro22=) rs113384352
NM_001145661.2(GATA2):c.710G>A (p.Gly237Asp) rs191501191
NM_001145661.2(GATA2):c.748C>G (p.Pro250Ala) rs78245253
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277
NM_001354604.2(MITF):c.880+9C>G rs181810413
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
NM_001378454.1(ALMS1):c.12115-8del
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.12362+16_12362+17del
NM_001378454.1(ALMS1):c.12363-18A>C
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[18] (p.Glu24_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del)
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.540-16C>T
NM_001379200.1(TBX1):c.540-7G>A
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480
NM_001614.5(ACTG1):c.363+7C>G rs782205549
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345
NM_001614.5(ACTG1):c.803-6C>T rs199600452
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989
NM_001614.5(ACTG1):c.985-5T>C rs370546734
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.1458+7G>A rs58302597
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041
NM_002109.6(HARS1):c.181-15G>C
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969
NM_002109.6(HARS1):c.300+138G>A
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys) rs117579809
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996
NM_002109.6(HARS1):c.730-17G>A
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587
NM_002109.6(HARS1):c.91-17del
NM_002109.6(HARS1):c.951+19G>A
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339
NM_002601.4(PDE6D):c.371+8A>C rs75242814
NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) rs146454164
NM_002968.2(SALL1):c.1950C>T (p.Gly650=) rs138705495
NM_002968.2(SALL1):c.2178G>A (p.Arg726=) rs144019351
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.2544A>G (p.Gln848=) rs45459896
NM_002968.2(SALL1):c.2574C>T (p.Leu858=) rs1965024
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.292A>G (p.Met98Val) rs28643388
NM_002968.2(SALL1):c.3222G>A (p.Ala1074=) rs61731131
NM_002968.2(SALL1):c.3456C>T (p.His1152=) rs11645288
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) rs4614723
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.390G>A (p.Pro130=) rs75156807
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.3942C>T (p.Phe1314=) rs189411650
NM_002968.2(SALL1):c.411C>T (p.Ser137=) rs151051011
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.475A>G (p.Ser159Gly) rs13336129
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1129+16A>G rs3815049
NM_003611.3(OFD1):c.1129+8T>A rs199572133
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1400G>A (p.Arg467His)
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+14T>A rs192720874
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2260+12G>A
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly)
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2387+11C>T rs140369491
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357
NM_003611.3(OFD1):c.2488+14_2488+19del
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.2600-4T>G rs753195130
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.2929-18C>T rs180940027
NM_003611.3(OFD1):c.2996+16AC[2]
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
NM_003611.3(OFD1):c.517+13_517+14delinsGC
NM_003611.3(OFD1):c.517+20T>C rs139112266
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416
NM_003611.3(OFD1):c.569G>A (p.Arg190His) rs150560046
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.780C>T (p.Leu260=)
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_005219.5(DIAPH1):c.1045-20T>A
NM_005219.5(DIAPH1):c.117+14C>T rs2074913
NM_005219.5(DIAPH1):c.117+9C>T rs528279050
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.621-19T>C
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.2505T>C (p.Ser835=) rs1799801
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.974-6T>C rs201181735
NM_005236.2(ERCC4):c.974-7G>A rs254942
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542
NM_005360.5(MAF):c.1179G>A (p.Gln393=)
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990
NM_005391.4(PDK3):c.1077+8G>A rs370736936
NM_005391.4(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_005391.4(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_005391.5(PDK3):c.204G>A (p.Pro68=)
NM_005391.5(PDK3):c.36G>A (p.Val12=)
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn)
NM_005391.5(PDK3):c.674-3C>T
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143
NM_012431.3(SEMA3E):c.276+3966C>G
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.551-6G>A
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991
NM_012431.3(SEMA3E):c.998+12A>T rs2245441
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser)
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr)
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149
NM_014918.5(CHSY1):c.320+6C>T
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192
NM_014918.5(CHSY1):c.573C>T (p.Ser191=)
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_015120.4(ALMS1):c.10082-11C>T rs368250605
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.11120C>G (p.Ser3707Cys) rs533965968
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11484C>G (p.Ser3828Arg) rs549156484
NM_015120.4(ALMS1):c.11604C>T (p.Phe3868=) rs80009262
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12301+5G>A rs371853987
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1577_1579= (p.Pro526_Leu527=)
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.2357A>G (p.Glu786Gly) rs17848880
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2733C>T (p.His911=) rs189923349
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3269C>G (p.Thr1090Arg) rs556855697
NM_015120.4(ALMS1):c.3310C>G (p.Pro1104Ala) rs200257398
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5248A>G (p.Thr1750Ala) rs546111188
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.64del (p.Glu22fs) rs753006733
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.75_77= (p.Glu25_Glu26=)
NM_015120.4(ALMS1):c.767+20T>A rs1881246
NM_015120.4(ALMS1):c.8549G>A (p.Arg2850Lys) rs200009686
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.9541C>G (p.Arg3181Gly) rs563393715
NM_015120.4(ALMS1):c.9770C>G (p.Ser3257Cys) rs200922218
NM_015120.4(ALMS1):c.978G>A (p.Ser326=) rs370267673
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616
NM_015120.4(ALMS1):c.9910+20C>T rs74730457
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
NM_015631.6(TCTN3):c.1591-5C>T rs181107730
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015631.6(TCTN3):c.500-11A>T rs11188434
NM_015631.6(TCTN3):c.500-6T>C rs201444392
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015631.6(TCTN3):c.889-8G>A rs374331871
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706
NM_016356.5(DCDC2):c.1368A>T (p.Lys456Asn) rs9460973
NM_016356.5(DCDC2):c.183C>T (p.Ala61=) rs33943110
NM_016356.5(DCDC2):c.294-21GTTT[2] rs374485384
NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) rs33914824
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329
NM_016418.5(NF2):c.1123-6C>T rs147898623
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) rs200536932
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.3522+13T>A rs199581494
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4645-9T>C rs766575601
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5051-4C>T rs71640288
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.4(CHD7):c.5300+8C>T rs151322460
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.6103+6T>C rs371509438
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=)
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004
NM_018344.6(SLC29A3):c.1137C>T (p.Leu379=) rs115006556
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033
NM_018344.6(SLC29A3):c.300+3A>G rs7083031
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410
NM_018344.6(SLC29A3):c.334A>G (p.Thr112Ala) rs374212391
NM_018344.6(SLC29A3):c.383+6C>T rs77626641
NM_018344.6(SLC29A3):c.383+8A>G rs2243540
NM_018344.6(SLC29A3):c.465G>A (p.Val155=)
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) rs143557881
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) rs150879861
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) rs200339271
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) rs61737431
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221
NM_018714.3(COG1):c.2383-17T>C rs3829571
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974
NM_023073.3(CPLANE1):c.5820+7C>T rs185534019
NM_023073.3(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052
NM_032861.4(SERAC1):c.1016-11C>T rs41269577
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641
NM_032861.4(SERAC1):c.1308+17C>A
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453
NM_032861.4(SERAC1):c.1403+12G>A rs117813106
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274
NM_032861.4(SERAC1):c.355+11A>G rs9356399
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105
NM_032861.4(SERAC1):c.487+19C>T
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699
NM_032861.4(SERAC1):c.739-10T>G rs118093738
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242
NM_052859.4(RFT1):c.267-20A>T rs73840213
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849
NM_080647.1(TBX1):c.-39C>T rs72646950
NM_080647.1(TBX1):c.-882C>T rs41298629
NM_080647.1(TBX1):c.1025G>A (p.Arg342Gln) rs549715785
NM_080647.1(TBX1):c.1059A>G (p.Ala353=) rs13054377
NM_080647.1(TBX1):c.1189A>C (p.Asn397His) rs72646967
NM_080647.1(TBX1):c.1211C>G (p.Ala404Gly) rs557935727
NM_080647.1(TBX1):c.1215C>T (p.Pro405=) rs200135498
NM_080647.1(TBX1):c.1287C>T (p.Ala429=) rs574947516
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.321G>A (p.Val107=) rs148928907
NM_080647.1(TBX1):c.420T>C (p.Phe140=) rs41298814
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.63G>T (p.Leu21=) rs770754649
NM_080647.1(TBX1):c.664C>T (p.Leu222=) rs2301558
NM_080647.1(TBX1):c.678C>T (p.Asn226=) rs149453540
NM_080647.1(TBX1):c.75G>T (p.Gly25=) rs72646952
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.927C>T (p.Pro309=) rs201607803
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080647.1(TBX1):c.933A>G (p.Ala311=) rs41298840
NM_145207.3(SPATA5):c.1046A>G (p.Lys349Arg) rs146372781
NM_145207.3(SPATA5):c.1131G>A (p.Glu377=) rs139089747
NM_145207.3(SPATA5):c.1527C>T (p.Leu509=) rs6534369
NM_145207.3(SPATA5):c.1616G>T (p.Arg539Met) rs74991481
NM_145207.3(SPATA5):c.1785G>T (p.Val595=) rs62324113
NM_145207.3(SPATA5):c.1870-4dup
NM_145207.3(SPATA5):c.1918G>C (p.Glu640Gln) rs35343500
NM_145207.3(SPATA5):c.2079+6G>A rs1472949
NM_145207.3(SPATA5):c.2214-16G>A
NM_145207.3(SPATA5):c.2485G>T (p.Asp829Tyr) rs35206443
NM_145207.3(SPATA5):c.505+10del
NM_145207.3(SPATA5):c.767T>C (p.Ile256Thr) rs55643281
NM_145207.3(SPATA5):c.807G>T (p.Leu269=) rs17006342
NM_145207.3(SPATA5):c.80G>C (p.Cys27Ser) rs35430470

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