ClinVar Miner

List of variants in gene DNAAF1 reported as uncertain significance for Primary ciliary dyskinesia

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Gene type:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
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.1988C>T (p.Pro663Leu) rs147393144 0.00053
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.1187G>T (p.Gly396Val) rs149958269 0.00032
NM_178452.6(DNAAF1):c.1645-19G>A rs192432193 0.00028
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys) rs144990549 0.00027
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp) rs146725281 0.00027
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met) rs76598454 0.00027
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) rs139743343 0.00026
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.1838C>A (p.Thr613Asn) rs145075337 0.00020
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00017
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) rs144393177 0.00015
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser) rs760764943 0.00015
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp) rs369294412 0.00014
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu) rs757455850 0.00013
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln) rs140751779 0.00013
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val) rs146607878 0.00011
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val) rs150672056 0.00011
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu) rs767204860 0.00009
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser) rs139714259 0.00008
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val) rs142105097 0.00007
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) rs201034372 0.00007
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00007
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) rs1169328891 0.00007
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg) rs773607269 0.00007
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys) rs950151051 0.00006
NM_178452.6(DNAAF1):c.1828T>G (p.Ser610Ala) rs2088636324 0.00006
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) rs376164700 0.00006
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met) rs193152088 0.00006
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu) rs557532640 0.00005
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe) rs148622974 0.00005
NM_178452.6(DNAAF1):c.260+3A>G rs375447481 0.00005
NM_178452.6(DNAAF1):c.270A>T (p.Lys90Asn) rs372387895 0.00005
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys) rs574238677 0.00005
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.618C>G (p.His206Gln) rs372777928 0.00004
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) rs764943936 0.00004
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln) rs751716129 0.00004
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp) rs757727188 0.00003
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg) rs749541341 0.00003
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) rs1024875120 0.00003
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr) rs747363759 0.00003
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln) rs752285725 0.00003
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr) rs373640751 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.254G>T (p.Gly85Val) rs527423763 0.00003
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met) rs375812500 0.00003
NM_178452.6(DNAAF1):c.596C>T (p.Thr199Ile) rs773251720 0.00003
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu) rs193069859 0.00002
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) rs1165621423 0.00002
NM_178452.6(DNAAF1):c.1535C>G (p.Thr512Ser) rs188354520 0.00002
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser) rs143490141 0.00002
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile) rs200046262 0.00002
NM_178452.6(DNAAF1):c.1645-2A>C rs764066045 0.00002
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) rs372901697 0.00002
NM_178452.6(DNAAF1):c.1864A>C (p.Thr622Pro) rs922771205 0.00002
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val) rs761549054 0.00002
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu) rs149659582 0.00002
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys) rs376980896 0.00002
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) rs750513286 0.00002
NM_178452.6(DNAAF1):c.555C>G (p.Ile185Met) rs183349516 0.00002
NM_178452.6(DNAAF1):c.626C>G (p.Thr209Ser) rs758172044 0.00002
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr) rs1433999083 0.00002
NM_178452.6(DNAAF1):c.743G>A (p.Arg248His) rs139283232 0.00002
NM_178452.6(DNAAF1):c.83C>T (p.Ala28Val) rs775095917 0.00002
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.1076C>T (p.Ala359Val) rs899339856 0.00001
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr) rs1033218638 0.00001
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala) rs2088240509 0.00001
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu) rs748991213 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.1340C>T (p.Pro447Leu) rs755275918 0.00001
NM_178452.6(DNAAF1):c.1384C>G (p.Gln462Glu) rs930798464 0.00001
NM_178452.6(DNAAF1):c.1385A>G (p.Gln462Arg) rs754914584 0.00001
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser) rs566279701 0.00001
NM_178452.6(DNAAF1):c.1430C>T (p.Pro477Leu) rs769351361 0.00001
NM_178452.6(DNAAF1):c.1465G>A (p.Glu489Lys) rs769802996 0.00001
NM_178452.6(DNAAF1):c.151G>A (p.Val51Met) rs201910542 0.00001
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr) rs2088403833 0.00001
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val) rs754836834 0.00001
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys) rs1215609214 0.00001
NM_178452.6(DNAAF1):c.158C>T (p.Ser53Phe) rs374229399 0.00001
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00001
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val) rs1170737480 0.00001
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp) rs1366180142 0.00001
NM_178452.6(DNAAF1):c.1640T>C (p.Ile547Thr) rs1237430918 0.00001
NM_178452.6(DNAAF1):c.1644+6T>C rs749557708 0.00001
NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu) rs2087059445 0.00001
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg) rs757333074 0.00001
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg) rs1290395779 0.00001
NM_178452.6(DNAAF1):c.1699-3T>C rs1177142525 0.00001
NM_178452.6(DNAAF1):c.1831A>G (p.Lys611Glu) rs369830021 0.00001
NM_178452.6(DNAAF1):c.183G>T (p.Gln61His) rs2507335587 0.00001
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) rs374900685 0.00001
NM_178452.6(DNAAF1):c.1849G>A (p.Ala617Thr) rs1308243842 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.2048T>C (p.Leu683Pro) rs778385409 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.2099C>T (p.Thr700Met) rs761384380 0.00001
NM_178452.6(DNAAF1):c.2176T>C (p.Ter726Gln) rs962153209 0.00001
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg) rs1210838568 0.00001
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn) rs570928611 0.00001
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val) rs932160879 0.00001
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser) rs113737166 0.00001
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His) rs200946538 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.652G>C (p.Glu218Gln) rs1305691679 0.00001
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu) rs775622753 0.00001
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln) rs565199726 0.00001
NM_178452.6(DNAAF1):c.818A>G (p.Lys273Arg) rs1023484282 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
NM_178452.5(DNAAF1):c.1306_1307ins156
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln) rs755873006
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg) rs771177373
NM_178452.6(DNAAF1):c.1059G>C (p.Glu353Asp)
NM_178452.6(DNAAF1):c.1078G>A (p.Glu360Lys) rs781004949
NM_178452.6(DNAAF1):c.1082G>T (p.Gly361Val)
NM_178452.6(DNAAF1):c.1093C>G (p.Pro365Ala) rs1177842882
NM_178452.6(DNAAF1):c.1096C>T (p.Pro366Ser)
NM_178452.6(DNAAF1):c.1103A>C (p.Asp368Ala) rs2507466760
NM_178452.6(DNAAF1):c.1150G>A (p.Glu384Lys)
NM_178452.6(DNAAF1):c.1153G>T (p.Ala385Ser) rs2088236952
NM_178452.6(DNAAF1):c.1205A>G (p.Glu402Gly)
NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn) rs766876325
NM_178452.6(DNAAF1):c.124+6G>A rs1479123454
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg) rs766064232
NM_178452.6(DNAAF1):c.1243A>G (p.Thr415Ala)
NM_178452.6(DNAAF1):c.1243A>T (p.Thr415Ser) rs764480347
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.1264C>G (p.Leu422Val) rs1029522235
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup) rs2088246526
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp) rs2507470388
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.1343C>G (p.Pro448Arg)
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup) rs2088249327
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val) rs2088254831
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del) rs2088255429
NM_178452.6(DNAAF1):c.1435G>A (p.Val479Met) rs1050884933
NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly) rs2507335055
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.148T>C (p.Cys50Arg) rs1268513300
NM_178452.6(DNAAF1):c.148T>G (p.Cys50Gly) rs1268513300
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp) rs1192806420
NM_178452.6(DNAAF1):c.1507C>A (p.Pro503Thr) rs1295741623
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg) rs557532640
NM_178452.6(DNAAF1):c.1529A>G (p.Glu510Gly)
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser) rs561606647
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp) rs1481696884
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys) rs886052370
NM_178452.6(DNAAF1):c.1576C>A (p.Leu526Ile)
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met) rs780536622
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys) rs1415853219
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser) rs774502745
NM_178452.6(DNAAF1):c.1609A>T (p.Ile537Phe)
NM_178452.6(DNAAF1):c.1610T>C (p.Ile537Thr)
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met) rs1239119335
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn) rs2088409947
NM_178452.6(DNAAF1):c.1645-5T>C rs2507515348
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala) rs2151278226
NM_178452.6(DNAAF1):c.1691A>T (p.Glu564Val) rs2151278226
NM_178452.6(DNAAF1):c.1693G>C (p.Asp565His) rs768743954
NM_178452.6(DNAAF1):c.1696C>G (p.Gln566Glu)
NM_178452.6(DNAAF1):c.1698+1G>C
NM_178452.6(DNAAF1):c.1703T>C (p.Met568Thr) rs1464649987
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.172T>G (p.Tyr58Asp) rs2151206382
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn) rs1488717484
NM_178452.6(DNAAF1):c.1752C>A (p.Asp584Glu)
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met) rs2088633060
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val) rs2507527544
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr) rs1597397944
NM_178452.6(DNAAF1):c.17C>T (p.Ser6Leu)
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val) rs774702739
NM_178452.6(DNAAF1):c.1823C>T (p.Ala608Val) rs1490108952
NM_178452.6(DNAAF1):c.182A>C (p.Gln61Pro)
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr) rs2507528252
NM_178452.6(DNAAF1):c.1892G>C (p.Arg631Thr) rs149357464
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe) rs1184177131
NM_178452.6(DNAAF1):c.1903A>G (p.Ile635Val)
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser) rs1017412114
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His) rs111414382
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val) rs2507529776
NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn) rs2507335760
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His) rs113845425
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys) rs1376964064
NM_178452.6(DNAAF1):c.1979T>G (p.Leu660Arg) rs2507530517
NM_178452.6(DNAAF1):c.1990A>G (p.Thr664Ala) rs199680570
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu) rs1597498231
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn) rs2288023
NM_178452.6(DNAAF1):c.2039G>A (p.Ser680Asn) rs2507531340
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.2065+1del rs1567571110
NM_178452.6(DNAAF1):c.2076G>C (p.Glu692Asp)
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly) rs1567574383
NM_178452.6(DNAAF1):c.2118G>C (p.Gln706His) rs2507553276
NM_178452.6(DNAAF1):c.2124C>A (p.Ser708Arg)
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys) rs374905502
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser) rs2088819587
NM_178452.6(DNAAF1):c.2143G>A (p.Asp715Asn) rs1334534849
NM_178452.6(DNAAF1):c.2146C>A (p.Leu716Ile)
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser) rs1597398065
NM_178452.6(DNAAF1):c.215G>T (p.Gly72Val)
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu) rs775816960
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu) rs2087061568
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) rs200440212
NM_178452.6(DNAAF1):c.238G>A (p.Asp80Asn)
NM_178452.6(DNAAF1):c.29C>T (p.Thr10Ile) rs753941664
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met) rs372390124
NM_178452.6(DNAAF1):c.316C>G (p.Pro106Ala) rs34794654
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.349A>C (p.Lys117Gln)
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.385A>G (p.Thr129Ala)
NM_178452.6(DNAAF1):c.392T>G (p.Leu131Arg)
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys) rs538582505
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His) rs371065429
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val) rs2507367156
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro) rs749082639
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.49G>T (p.Asp17Tyr)
NM_178452.6(DNAAF1):c.4C>A (p.His2Asn) rs1367546093
NM_178452.6(DNAAF1):c.511C>A (p.Pro171Thr) rs754730362
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro) rs2087331937
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val) rs746506056
NM_178452.6(DNAAF1):c.584C>G (p.Pro195Arg) rs1308392116
NM_178452.6(DNAAF1):c.59A>G (p.Gln20Arg)
NM_178452.6(DNAAF1):c.604A>C (p.Met202Leu)
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr) rs2087389150
NM_178452.6(DNAAF1):c.614A>G (p.Asn205Ser)
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg) rs1060502830
NM_178452.6(DNAAF1):c.640C>G (p.Gln214Glu)
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe) rs1453223029
NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp) rs2086855827
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met) rs2087394618
NM_178452.6(DNAAF1):c.730A>G (p.Met244Val) rs2507375642
NM_178452.6(DNAAF1):c.742C>A (p.Arg248Ser) rs146766692
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.761G>C (p.Gly254Ala) rs2507397458
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys) rs373103805
NM_178452.6(DNAAF1):c.766C>G (p.Pro256Ala) rs377443247
NM_178452.6(DNAAF1):c.76G>C (p.Glu26Gln)
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys) rs867096947
NM_178452.6(DNAAF1):c.7C>T (p.Pro3Ser) rs868661486
NM_178452.6(DNAAF1):c.863+6A>C rs1303480013
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val) rs745857720
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg) rs1479444145
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp) rs752852857
NM_178452.6(DNAAF1):c.935G>C (p.Arg312Thr) rs2087949170
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys) rs1567554737
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln) rs780631154
NM_178452.6(DNAAF1):c.948G>T (p.Lys316Asn)
NM_178452.6(DNAAF1):c.94G>A (p.Gly32Arg)
NM_178452.6(DNAAF1):c.979A>T (p.Ile327Phe)

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