ClinVar Miner

List of variants in gene DNAAF1 reported by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37821
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30436
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28427
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27717
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16102
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.05370
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_178452.6(DNAAF1):c.352+17G>C rs142704524 0.01446
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=) rs35214636 0.00501
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser) rs144628213 0.00365
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00342
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00262
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) rs137862641 0.00237
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00190
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_178452.6(DNAAF1):c.1644+14T>C rs185394395 0.00170
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677 0.00093
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala) rs200992452 0.00086
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=) rs143312655 0.00063
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg) rs117114021 0.00054
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 0.00053
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr) rs35496754 0.00049
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=) rs141074491 0.00044
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) rs199680570 0.00041
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) rs373515859 0.00036
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val) rs149958269 0.00032
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys) rs144990549 0.00027
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met) rs76598454 0.00027
NM_178452.6(DNAAF1):c.863+17C>G rs200161964 0.00027
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) rs139743343 0.00026
NM_178452.6(DNAAF1):c.1645-19G>A rs192432193 0.00024
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=) rs139566676 0.00023
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln) rs538389058 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=) rs370118109 0.00021
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn) rs145075337 0.00020
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00019
NM_178452.6(DNAAF1):c.1528+11C>T rs375586650 0.00016
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) rs144393177 0.00015
NM_178452.6(DNAAF1):c.2065+9G>A rs200690810 0.00015
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser) rs760764943 0.00015
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp) rs369294412 0.00014
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu) rs757455850 0.00014
NM_178452.6(DNAAF1):c.863+13A>G rs112775337 0.00014
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.1529-18C>G rs199720934 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_178452.6(DNAAF1):c.393G>T (p.Leu131=) rs569848695 0.00013
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00012
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=) rs769877978 0.00012
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) rs4150188 0.00012
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln) rs140751779 0.00012
NM_178452.6(DNAAF1):c.2065+5G>A rs774606576 0.00011
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) rs145469545 0.00011
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=) rs764624773 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val) rs150672056 0.00011
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=) rs370819090 0.00010
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val) rs146607878 0.00010
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu) rs767204860 0.00009
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=) rs768024430 0.00009
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) rs764511452 0.00009
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser) rs139714259 0.00008
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00008
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=) rs142870415 0.00007
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) rs201034372 0.00007
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) rs376164700 0.00007
NM_178452.6(DNAAF1):c.353-18G>A rs201504436 0.00007
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) rs1169328891 0.00007
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys) rs950151051 0.00006
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val) rs142105097 0.00006
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn) rs186287554 0.00006
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) rs142601761 0.00006
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu) rs193069859 0.00005
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) rs368651695 0.00005
NM_178452.6(DNAAF1):c.1528+12G>A rs765784723 0.00005
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00005
NM_178452.6(DNAAF1):c.1645-2A>C rs764066045 0.00005
NM_178452.6(DNAAF1):c.1699-9del rs1187555170 0.00005
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe) rs148622974 0.00005
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=) rs764010439 0.00005
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val) rs761549054 0.00005
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=) rs779266990 0.00005
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln) rs372777928 0.00005
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln) rs751716129 0.00005
NM_178452.6(DNAAF1):c.1030+15G>A rs774316277 0.00004
NM_178452.6(DNAAF1):c.1218G>A (p.Glu406=) rs374207885 0.00004
NM_178452.6(DNAAF1):c.1401C>A (p.Thr467=) rs758659103 0.00004
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=) rs372197911 0.00004
NM_178452.6(DNAAF1):c.1713G>A (p.Pro571=) rs772607419 0.00004
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile) rs759644657 0.00004
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn) rs113845425 0.00004
NM_178452.6(DNAAF1):c.359A>T (p.Asp120Val) rs143005689 0.00004
NM_178452.6(DNAAF1):c.742-6T>C rs749307507 0.00004
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) rs764943936 0.00004
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=) rs772497904 0.00003
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp) rs757727188 0.00003
NM_178452.6(DNAAF1):c.1272G>A (p.Ser424=) rs772170131 0.00003
NM_178452.6(DNAAF1):c.1359G>A (p.Val453=) rs267604662 0.00003
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=) rs769031288 0.00003
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=) rs763040302 0.00003
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) rs372901697 0.00003
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr) rs769986363 0.00003
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser) rs552601600 0.00003
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=) rs144962513 0.00003
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met) rs375812500 0.00003
NM_178452.6(DNAAF1):c.339T>C (p.Tyr113=) rs748288552 0.00003
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys) rs574238677 0.00003
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) rs1165621423 0.00002
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=) rs773473941 0.00002
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser) rs143490141 0.00002
NM_178452.6(DNAAF1):c.1645-9C>A rs775351767 0.00002
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu) rs149659582 0.00002
NM_178452.6(DNAAF1):c.2065+8C>T rs761990499 0.00002
NM_178452.6(DNAAF1):c.2106C>T (p.Val702=) rs765561180 0.00002
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His) rs200946538 0.00002
NM_178452.6(DNAAF1):c.598T>C (p.Leu200=) rs776685379 0.00002
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr) rs1433999083 0.00002
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00001
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly) rs779981792 0.00001
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly) rs751146013 0.00001
NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser) rs551990619 0.00001
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=) rs766876325 0.00001
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=) rs1325549762 0.00001
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln) rs1385574276 0.00001
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg) rs750949357 0.00001
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser) rs566279701 0.00001
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val) rs754836834 0.00001
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser) rs774502745 0.00001
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val) rs1170737480 0.00001
NM_178452.6(DNAAF1):c.1644+6T>C rs749557708 0.00001
NM_178452.6(DNAAF1):c.1699-5A>C rs748161119 0.00001
NM_178452.6(DNAAF1):c.1731G>A (p.Ser577=) rs759159646 0.00001
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) rs374900685 0.00001
NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter) rs1489377964 0.00001
NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter) rs748869874 0.00001
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln) rs773443425 0.00001
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg) rs878855278 0.00001
NM_178452.6(DNAAF1):c.1953C>T (p.Ser651=) rs766434597 0.00001
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) rs772036783 0.00001
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) rs775618173 0.00001
NM_178452.6(DNAAF1):c.2095G>A (p.Glu699Lys) rs1428022614 0.00001
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val) rs545356113 0.00001
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val) rs1325784286 0.00001
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro) rs1555521180 0.00001
NM_178452.6(DNAAF1):c.575-10T>A rs561544696 0.00001
NM_178452.6(DNAAF1):c.588C>T (p.Val196=) rs1351387084 0.00001
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln) rs1305691679 0.00001
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu) rs775622753 0.00001
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val) rs761851970 0.00001
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=) rs759831401 0.00001
NM_178452.6(DNAAF1):c.715del (p.Ser239fs) rs758650222 0.00001
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln) rs565199726 0.00001
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter) rs267607226 0.00001
NM_178452.6(DNAAF1):c.864-12T>C rs375232772 0.00001
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp) rs536922836 0.00001
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln) rs374704486 0.00001
NC_000016.10:g.(?_84148987)_(84150362_?)del
NC_000016.9:g.(?_84179046)_(84193421_?)del
NC_000016.9:g.(?_84188162)_(84203982_?)del
NC_000016.9:g.(?_84193260)_(84193421_?)del
NM_178452.5(DNAAF1):c.1306_1307ins156
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln) rs755873006
NM_178452.6(DNAAF1):c.1018_1019del (p.Gln341fs) rs1567555007
NM_178452.6(DNAAF1):c.1030+10C>T rs775992194
NM_178452.6(DNAAF1):c.1030+11_1030+22del
NM_178452.6(DNAAF1):c.1030+7G>A
NM_178452.6(DNAAF1):c.1030+8C>T rs2151253101
NM_178452.6(DNAAF1):c.1031-11T>G rs200286840
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=)
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg) rs771177373
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val)
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr)
NM_178452.6(DNAAF1):c.1197G>A (p.Pro399=) rs775507447
NM_178452.6(DNAAF1):c.1197G>T (p.Pro399=) rs775507447
NM_178452.6(DNAAF1):c.124+12C>T
NM_178452.6(DNAAF1):c.124+16C>T
NM_178452.6(DNAAF1):c.124+6G>A rs1479123454
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg) rs766064232
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser) rs2151265896
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del) rs1555525141
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg)
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val) rs1029522235
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu)
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=)
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup) rs2088246526
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.1302A>T (p.Gly434=) rs1033113310
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp)
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=) rs1555525241
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His) rs2151266342
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln) rs1242687898
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu)
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup) rs2088249327
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) rs397515339
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=) rs761136963
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val) rs2088254831
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del) rs2088255429
NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer)
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=) rs1205285192
NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter)
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu) rs2151267135
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser) rs2088261172
NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs) rs1555519999
NM_178452.6(DNAAF1):c.1484del (p.Pro495fs) rs2088261600
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp) rs1192806420
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg) rs557532640
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu)
NM_178452.6(DNAAF1):c.1509C>T (p.Pro503=) rs2151267410
NM_178452.6(DNAAF1):c.1512G>A (p.Leu504=) rs2088264269
NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=)
NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)
NM_178452.6(DNAAF1):c.1529-11T>C
NM_178452.6(DNAAF1):c.1529-17TTG[2] rs369485504
NM_178452.6(DNAAF1):c.1533G>A (p.Pro511=)
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser) rs561606647
NM_178452.6(DNAAF1):c.1539C>T (p.Pro513=)
NM_178452.6(DNAAF1):c.153G>C (p.Val51=)
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr)
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys)
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=)
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp)
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met)
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys) rs1415853219
NM_178452.6(DNAAF1):c.1606del (p.Thr536fs)
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=)
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=)
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met) rs1239119335
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln)
NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter)
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=)
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp)
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile)
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn) rs2088409947
NM_178452.6(DNAAF1):c.1644+17dup
NM_178452.6(DNAAF1):c.1645-19G>C
NM_178452.6(DNAAF1):c.1645-20C>T
NM_178452.6(DNAAF1):c.1645-5T>C
NM_178452.6(DNAAF1):c.1645-9C>T
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=) rs576928019
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg)
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr)
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala) rs2151278226
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg)
NM_178452.6(DNAAF1):c.1698+8T>A rs1186759315
NM_178452.6(DNAAF1):c.1698+9C>T
NM_178452.6(DNAAF1):c.1699-3T>C
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln) rs199727292
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu) rs199727292
NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=)
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp) rs2151206382
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs)
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn) rs1488717484
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=) rs747916153
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val)
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr) rs1597397944
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val) rs774702739
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
NM_178452.6(DNAAF1):c.1814dup (p.Asn605fs) rs1555526915
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr)
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe)
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter) rs1060502829
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser)
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His) rs111414382
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val)
NM_178452.6(DNAAF1):c.1937del (p.Leu646fs) rs1555527001
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His) rs113845425
NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter) rs201034372
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys)
NM_178452.6(DNAAF1):c.1992C>T (p.Thr664=)
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu) rs1597498231
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn)
NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.2065+14dup rs2151282395
NM_178452.6(DNAAF1):c.2065+1del rs1567571110
NM_178452.6(DNAAF1):c.2065+20A>G rs1392623784
NM_178452.6(DNAAF1):c.2065+9G>T
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly) rs1567574383
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys)
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser) rs2088819587
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser) rs1597398065
NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=)
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu)
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=)
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) rs200440212
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg)
NM_178452.6(DNAAF1):c.260+3A>G
NM_178452.6(DNAAF1):c.261-20A>G
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=) rs1466796208
NM_178452.6(DNAAF1):c.30del (p.Gly11fs)
NM_178452.6(DNAAF1):c.317del (p.Pro106fs)
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys) rs149063283
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala) rs1441002883
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys) rs375812500
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=)
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)
NM_178452.6(DNAAF1):c.352+15G>C
NM_178452.6(DNAAF1):c.352+9C>A
NM_178452.6(DNAAF1):c.353-19C>T
NM_178452.6(DNAAF1):c.353-5G>A
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser) rs368031148
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) rs34897947
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val)
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys) rs538582505
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His)
NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser)
NM_178452.6(DNAAF1):c.417T>C (p.Asn139=) rs1597417751
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val)
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys)
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=) rs2087328101
NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro)
NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs)
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del) rs1555521110
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser) rs752043457
NM_178452.6(DNAAF1):c.489C>T (p.Leu163=) rs1597418016
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs) rs786205052
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro) rs2087331937
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val)
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=)
NM_178452.6(DNAAF1):c.574+11C>T
NM_178452.6(DNAAF1):c.575-18G>T
NM_178452.6(DNAAF1):c.575-20C>T
NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=) rs1597422367
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr) rs2087389150
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg) rs1060502830
NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter)
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg)
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe)
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.684G>C (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=)
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met)
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=) rs928649220
NM_178452.6(DNAAF1):c.741+2T>G
NM_178452.6(DNAAF1):c.741+4AAAAAC[4]
NM_178452.6(DNAAF1):c.742-12G>A
NM_178452.6(DNAAF1):c.742-7C>G rs2087610689
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn) rs2151234537
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro) rs1555522543
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met)
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys) rs373103805
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=)
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys) rs867096947
NM_178452.6(DNAAF1):c.863+6A>C rs1303480013
NM_178452.6(DNAAF1):c.863+8G>A
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val) rs745857720
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg)
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=)
NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter) rs372303284
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp) rs752852857
NM_178452.6(DNAAF1):c.934_940del (p.Arg312fs) rs1233603821
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys) rs1567554737
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln) rs780631154
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)
NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)

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