ClinVar Miner

List of variants in gene DNAAF5 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 442
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HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.905+107T>C rs62432212 0.98810
NM_017802.4(DNAAF5):c.1257+13A>G rs34761279 0.83091
NM_017802.4(DNAAF5):c.*139A>G rs62432897 0.83080
NM_017802.4(DNAAF5):c.1932-67T>C rs4719279 0.77396
NM_017802.4(DNAAF5):c.2432-40T>C rs67721251 0.77187
NM_017802.4(DNAAF5):c.906-4T>G rs6943337 0.76245
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys) rs3922641 0.64560
NM_017802.4(DNAAF5):c.2083-31G>A rs34943122 0.64150
NM_017802.4(DNAAF5):c.1932-35G>A rs62432869 0.61848
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala) rs4720951 0.43572
NM_017802.4(DNAAF5):c.1784-1298C>G rs6946758 0.43082
NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=) rs73036225 0.14212
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg) rs113374052 0.01381
NM_017802.4(DNAAF5):c.1056C>T (p.Leu352=) rs77384933 0.00971
NM_017802.4(DNAAF5):c.2240-12C>T rs114742749 0.00586
NM_017802.4(DNAAF5):c.1678C>T (p.Arg560Cys) rs73258248 0.00535
NM_017802.4(DNAAF5):c.1319T>G (p.Ile440Ser) rs148065657 0.00513
NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=) rs114907681 0.00336
NM_017802.4(DNAAF5):c.1471-13C>T rs140078958 0.00314
NM_017802.4(DNAAF5):c.1689T>C (p.Ile563=) rs151227818 0.00296
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00208
NM_017802.4(DNAAF5):c.1245C>T (p.Ala415=) rs146922072 0.00180
NM_017802.4(DNAAF5):c.711T>C (p.Phe237=) rs543710960 0.00168
NM_017802.4(DNAAF5):c.1931+8C>T rs145254596 0.00135
NM_017802.4(DNAAF5):c.1783+10C>T rs189816059 0.00134
NM_017802.4(DNAAF5):c.2361C>T (p.Val787=) rs140641290 0.00118
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys) rs61755909 0.00101
NM_017802.4(DNAAF5):c.888C>T (p.Asp296=) rs137860295 0.00101
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val) rs75829847 0.00071
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 0.00070
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile) rs138915052 0.00063
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg) rs142141660 0.00060
NM_017802.4(DNAAF5):c.1257+19G>T rs371368276 0.00056
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu) rs149924115 0.00044
NM_017802.4(DNAAF5):c.1539C>T (p.Gly513=) rs577043545 0.00042
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln) rs149778130 0.00039
NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly) rs201998366 0.00038
NM_017802.4(DNAAF5):c.905+15G>A rs200552045 0.00038
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=) rs139675128 0.00035
NM_017802.4(DNAAF5):c.1325C>T (p.Ser442Leu) rs146938307 0.00035
NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu) rs201264312 0.00033
NM_017802.4(DNAAF5):c.1394G>A (p.Arg465Gln) rs192289643 0.00031
NM_017802.4(DNAAF5):c.933C>T (p.Asp311=) rs139879811 0.00031
NM_017802.4(DNAAF5):c.1471-12G>A rs370817681 0.00025
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile) rs141955563 0.00022
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=) rs149101412 0.00021
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu) rs115620965 0.00021
NM_017802.4(DNAAF5):c.1783+7C>T rs748320384 0.00019
NM_017802.4(DNAAF5):c.2200G>A (p.Gly734Ser) rs191515363 0.00019
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp) rs143045012 0.00018
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=) rs758280553 0.00016
NM_017802.4(DNAAF5):c.2196G>A (p.Ser732=) rs374069664 0.00014
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr) rs149139347 0.00014
NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser) rs377147369 0.00014
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr) rs141828030 0.00013
NM_017802.4(DNAAF5):c.1812C>T (p.His604=) rs190772196 0.00013
NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=) rs199992201 0.00013
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile) rs572892623 0.00011
NM_017802.4(DNAAF5):c.2490C>T (p.Ala830=) rs774657675 0.00011
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile) rs145938269 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=) rs368936903 0.00010
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=) rs142939429 0.00010
NM_017802.4(DNAAF5):c.1031G>A (p.Arg344His) rs200002909 0.00009
NM_017802.4(DNAAF5):c.2142G>A (p.Ser714=) rs113450580 0.00008
NM_017802.4(DNAAF5):c.2452G>A (p.Gly818Arg) rs376897902 0.00008
NM_017802.4(DNAAF5):c.1450A>G (p.Ile484Val) rs139727224 0.00007
NM_017802.4(DNAAF5):c.1588G>A (p.Ala530Thr) rs200272840 0.00007
NM_017802.4(DNAAF5):c.1996G>A (p.Ala666Thr) rs750935190 0.00007
NM_017802.4(DNAAF5):c.2425A>G (p.Ile809Val) rs563633198 0.00007
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His) rs374875482 0.00007
NM_017802.4(DNAAF5):c.735C>T (p.Asp245=) rs766158599 0.00007
NM_017802.4(DNAAF5):c.780+6T>A rs903588155 0.00007
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met) rs775542739 0.00006
NM_017802.4(DNAAF5):c.1247T>C (p.Val416Ala) rs762606868 0.00006
NM_017802.4(DNAAF5):c.1258-7C>A rs1181940614 0.00006
NM_017802.4(DNAAF5):c.1371C>T (p.Ala457=) rs568531246 0.00006
NM_017802.4(DNAAF5):c.1598C>T (p.Thr533Ile) rs775678178 0.00006
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val) rs137924231 0.00006
NM_017802.4(DNAAF5):c.2003G>C (p.Arg668Thr) rs555500022 0.00006
NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys) rs779271163 0.00006
NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro) rs377581183 0.00006
NM_017802.4(DNAAF5):c.781-5C>T rs756800404 0.00006
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr) rs201942359 0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017802.4(DNAAF5):c.1950C>G (p.Leu650=) rs755182384 0.00005
NM_017802.4(DNAAF5):c.2239+8A>G rs202087864 0.00005
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=) rs772910548 0.00005
NM_017802.4(DNAAF5):c.2551G>A (p.Val851Met) rs201895277 0.00005
NM_017802.4(DNAAF5):c.732C>T (p.Asp244=) rs751760178 0.00005
NM_017802.4(DNAAF5):c.1230C>T (p.Thr410=) rs779072395 0.00004
NM_017802.4(DNAAF5):c.1341G>A (p.Thr447=) rs200587511 0.00004
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val) rs147690117 0.00004
NM_017802.4(DNAAF5):c.1783+8G>A rs758632496 0.00004
NM_017802.4(DNAAF5):c.1784-1G>T rs765025514 0.00004
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=) rs751078064 0.00004
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met) rs200034358 0.00004
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=) rs777084727 0.00004
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00004
NM_017802.4(DNAAF5):c.2375G>A (p.Arg792Gln) rs772102523 0.00004
NM_017802.4(DNAAF5):c.678C>T (p.Ala226=) rs563294364 0.00004
NM_017802.4(DNAAF5):c.1025-7G>A rs748574039 0.00003
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys) rs773921234 0.00003
NM_017802.4(DNAAF5):c.1083C>T (p.Leu361=) rs139756611 0.00003
NM_017802.4(DNAAF5):c.1207C>T (p.Arg403Trp) rs372413434 0.00003
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg) rs147811057 0.00003
NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser) rs747552520 0.00003
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr) rs534027051 0.00003
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu) rs755871359 0.00003
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val) rs759671132 0.00003
NM_017802.4(DNAAF5):c.2252G>A (p.Arg751His) rs145339697 0.00003
NM_017802.4(DNAAF5):c.2451C>A (p.Ser817Arg) rs142621969 0.00003
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=) rs146751534 0.00003
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met) rs370267615 0.00003
NM_017802.4(DNAAF5):c.1024+13G>A rs773831457 0.00002
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=) rs139756611 0.00002
NM_017802.4(DNAAF5):c.1177C>T (p.His393Tyr) rs768907625 0.00002
NM_017802.4(DNAAF5):c.1195G>A (p.Glu399Lys) rs752282523 0.00002
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn) rs748404959 0.00002
NM_017802.4(DNAAF5):c.1281C>T (p.Val427=) rs749052581 0.00002
NM_017802.4(DNAAF5):c.1410G>A (p.Pro470=) rs202182894 0.00002
NM_017802.4(DNAAF5):c.1446C>G (p.Ala482=) rs571248637 0.00002
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=) rs368538461 0.00002
NM_017802.4(DNAAF5):c.1739A>G (p.His580Arg) rs762336859 0.00002
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=) rs754316026 0.00002
NM_017802.4(DNAAF5):c.1932-19C>T rs762597761 0.00002
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met) rs777468194 0.00002
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter) rs1216182303 0.00002
NM_017802.4(DNAAF5):c.2475G>A (p.Val825=) rs762526450 0.00002
NM_017802.4(DNAAF5):c.2507G>A (p.Arg836His) rs760802184 0.00002
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=) rs370588837 0.00002
NM_017802.4(DNAAF5):c.2535G>A (p.Leu845=) rs1326859026 0.00002
NM_017802.4(DNAAF5):c.694G>A (p.Gly232Ser) rs369123218 0.00002
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=) rs566588440 0.00001
NM_017802.4(DNAAF5):c.1098C>T (p.His366=) rs142951273 0.00001
NM_017802.4(DNAAF5):c.1128A>C (p.Arg376=) rs753803162 0.00001
NM_017802.4(DNAAF5):c.1179C>T (p.His393=) rs537994269 0.00001
NM_017802.4(DNAAF5):c.1276C>G (p.Leu426Val) rs747227150 0.00001
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met) rs777008597 0.00001
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser) rs751643186 0.00001
NM_017802.4(DNAAF5):c.1374C>T (p.Ser458=) rs150926878 0.00001
NM_017802.4(DNAAF5):c.1381C>T (p.Arg461Trp) rs373336873 0.00001
NM_017802.4(DNAAF5):c.1435C>G (p.Leu479Val) rs769427761 0.00001
NM_017802.4(DNAAF5):c.1470+1G>A rs767713588 0.00001
NM_017802.4(DNAAF5):c.1471-14C>G rs765928517 0.00001
NM_017802.4(DNAAF5):c.1471-3C>T rs543219185 0.00001
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His) rs368098310 0.00001
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=) rs771906023 0.00001
NM_017802.4(DNAAF5):c.1610A>G (p.Asp537Gly) rs926185028 0.00001
NM_017802.4(DNAAF5):c.1615-2A>G rs371542660 0.00001
NM_017802.4(DNAAF5):c.1728C>G (p.Asp576Glu) rs1437350828 0.00001
NM_017802.4(DNAAF5):c.1735G>A (p.Ala579Thr) rs769804298 0.00001
NM_017802.4(DNAAF5):c.1743G>A (p.Ser581=) rs1232523161 0.00001
NM_017802.4(DNAAF5):c.1771G>A (p.Val591Ile) rs754002298 0.00001
NM_017802.4(DNAAF5):c.1797A>T (p.Gly599=) rs376945935 0.00001
NM_017802.4(DNAAF5):c.1802C>G (p.Ala601Gly) rs745537484 0.00001
NM_017802.4(DNAAF5):c.1865G>A (p.Arg622His) rs779833002 0.00001
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val) rs761189541 0.00001
NM_017802.4(DNAAF5):c.2048C>T (p.Ala683Val) rs1159798626 0.00001
NM_017802.4(DNAAF5):c.2177A>C (p.Asn726Thr) rs1332012675 0.00001
NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter) rs950490534 0.00001
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys) rs755610202 0.00001
NM_017802.4(DNAAF5):c.2511G>A (p.Ser837=) rs143524894 0.00001
NM_017802.4(DNAAF5):c.2546A>C (p.Gln849Pro) rs768265611 0.00001
NM_017802.4(DNAAF5):c.607A>G (p.Met203Val) rs1194482161 0.00001
NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu) rs373565354 0.00001
NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr) rs1781502389 0.00001
NM_017802.4(DNAAF5):c.717C>T (p.Asn239=) rs569560572 0.00001
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln) rs545123585 0.00001
NM_017802.4(DNAAF5):c.781-8A>G rs570735854 0.00001
NM_017802.4(DNAAF5):c.781-9C>T rs899682066 0.00001
NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser) rs764170608 0.00001
NM_017802.4(DNAAF5):c.836G>A (p.Arg279His) rs978606639 0.00001
NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu) rs181807581 0.00001
NM_017802.4(DNAAF5):c.905+18C>T rs772079587 0.00001
NC_000007.13:g.(?_794206)_(825290_?)del
NC_000007.13:g.(?_825134)_(825290_?)del
NC_000007.14:g.(?_785511)_(785658_?)del
NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro) rs1184837316
NM_017802.4(DNAAF5):c.1015C>T (p.Pro339Ser)
NM_017802.4(DNAAF5):c.1016C>G (p.Pro339Arg)
NM_017802.4(DNAAF5):c.1018C>G (p.Pro340Ala)
NM_017802.4(DNAAF5):c.1024+10C>A
NM_017802.4(DNAAF5):c.1024+10C>T rs375071932
NM_017802.4(DNAAF5):c.1024+11G>A
NM_017802.4(DNAAF5):c.1024+11G>T rs201554395
NM_017802.4(DNAAF5):c.1024+12C>A
NM_017802.4(DNAAF5):c.1024+19G>A
NM_017802.4(DNAAF5):c.1025-14C>T
NM_017802.4(DNAAF5):c.1025-7G>C
NM_017802.4(DNAAF5):c.1025-8C>T
NM_017802.4(DNAAF5):c.1030C>T (p.Arg344Cys) rs1583495983
NM_017802.4(DNAAF5):c.1042G>A (p.Gly348Ser)
NM_017802.4(DNAAF5):c.1048C>T (p.Arg350Trp)
NM_017802.4(DNAAF5):c.1050G>T (p.Arg350=)
NM_017802.4(DNAAF5):c.1057G>A (p.Val353Ile)
NM_017802.4(DNAAF5):c.1069C>T (p.Leu357Phe)
NM_017802.4(DNAAF5):c.1092G>C (p.Leu364=)
NM_017802.4(DNAAF5):c.1108G>A (p.Asp370Asn) rs200573334
NM_017802.4(DNAAF5):c.1108G>T (p.Asp370Tyr) rs200573334
NM_017802.4(DNAAF5):c.1127G>A (p.Arg376Gln) rs760488601
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
NM_017802.4(DNAAF5):c.1155G>A (p.Val385=)
NM_017802.4(DNAAF5):c.1166A>G (p.His389Arg)
NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)
NM_017802.4(DNAAF5):c.1171G>A (p.Glu391Lys)
NM_017802.4(DNAAF5):c.1180G>A (p.Ala394Thr)
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met)
NM_017802.4(DNAAF5):c.1200C>T (p.Val400=)
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=)
NM_017802.4(DNAAF5):c.1219dup (p.Gln407fs)
NM_017802.4(DNAAF5):c.1221G>C (p.Gln407His) rs1782430981
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)
NM_017802.4(DNAAF5):c.1239G>T (p.Glu413Asp)
NM_017802.4(DNAAF5):c.1253A>T (p.Gln418Leu)
NM_017802.4(DNAAF5):c.1255A>G (p.Ser419Gly) rs1327498994
NM_017802.4(DNAAF5):c.1257+16C>G
NM_017802.4(DNAAF5):c.1258-11C>T
NM_017802.4(DNAAF5):c.1258-17A>G
NM_017802.4(DNAAF5):c.1258-2A>G
NM_017802.4(DNAAF5):c.1258-3C>T rs1562388213
NM_017802.4(DNAAF5):c.1258-4G>A rs202056316
NM_017802.4(DNAAF5):c.1258-4G>T
NM_017802.4(DNAAF5):c.1263C>T (p.Thr421=)
NM_017802.4(DNAAF5):c.1279G>A (p.Val427Ile) rs372983996
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe) rs372983996
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
NM_017802.4(DNAAF5):c.1290T>C (p.Phe430=) rs2128078886
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=)
NM_017802.4(DNAAF5):c.1326G>A (p.Ser442=)
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=)
NM_017802.4(DNAAF5):c.1340C>T (p.Thr447Met) rs369586981
NM_017802.4(DNAAF5):c.1350C>G (p.Ala450=) rs2128078908
NM_017802.4(DNAAF5):c.1353C>T (p.Ser451=)
NM_017802.4(DNAAF5):c.1406A>G (p.Gln469Arg)
NM_017802.4(DNAAF5):c.1409C>T (p.Pro470Leu)
NM_017802.4(DNAAF5):c.1437G>A (p.Leu479=) rs2128078963
NM_017802.4(DNAAF5):c.1470+12T>G rs2128078986
NM_017802.4(DNAAF5):c.1470+9A>G
NM_017802.4(DNAAF5):c.1471-1G>A
NM_017802.4(DNAAF5):c.1471-7C>T
NM_017802.4(DNAAF5):c.1471G>A (p.Asp491Asn) rs1431048395
NM_017802.4(DNAAF5):c.1488C>T (p.Arg496=)
NM_017802.4(DNAAF5):c.1497G>A (p.Leu499=)
NM_017802.4(DNAAF5):c.1508C>T (p.Ala503Val)
NM_017802.4(DNAAF5):c.1515G>A (p.Val505=)
NM_017802.4(DNAAF5):c.1518T>C (p.Ser506=)
NM_017802.4(DNAAF5):c.1519G>A (p.Val507Met)
NM_017802.4(DNAAF5):c.1537G>A (p.Gly513Ser)
NM_017802.4(DNAAF5):c.1544C>T (p.Ala515Val) rs878855034
NM_017802.4(DNAAF5):c.1547G>A (p.Ser516Asn)
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=)
NM_017802.4(DNAAF5):c.1563C>T (p.Asp521=)
NM_017802.4(DNAAF5):c.1564G>A (p.Val522Met)
NM_017802.4(DNAAF5):c.1575A>C (p.Thr525=) rs754710920
NM_017802.4(DNAAF5):c.1576A>C (p.Ile526Leu) rs778680655
NM_017802.4(DNAAF5):c.1600G>A (p.Gly534Ser)
NM_017802.4(DNAAF5):c.1614+13G>A
NM_017802.4(DNAAF5):c.1615-101G>A rs4495324
NM_017802.4(DNAAF5):c.1616C>T (p.Ala539Val)
NM_017802.4(DNAAF5):c.1635A>G (p.Ser545=)
NM_017802.4(DNAAF5):c.1641C>T (p.Ala547=)
NM_017802.4(DNAAF5):c.1645G>A (p.Val549Met) rs746007264
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=)
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His) rs760358814
NM_017802.4(DNAAF5):c.1689T>G (p.Ile563Met)
NM_017802.4(DNAAF5):c.1704G>A (p.Glu568=) rs2128081094
NM_017802.4(DNAAF5):c.1705C>T (p.Arg569Trp)
NM_017802.4(DNAAF5):c.1706G>A (p.Arg569Gln)
NM_017802.4(DNAAF5):c.1708G>C (p.Val570Leu)
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=)
NM_017802.4(DNAAF5):c.1716G>A (p.Ala572=) rs778984123
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)
NM_017802.4(DNAAF5):c.1734C>T (p.Thr578=) rs201710687
NM_017802.4(DNAAF5):c.1773C>A (p.Val591=) rs185154075
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
NM_017802.4(DNAAF5):c.1777_1778del (p.Gln593fs) rs1782745000
NM_017802.4(DNAAF5):c.1783+12C>G
NM_017802.4(DNAAF5):c.1783+13G>T rs201316573
NM_017802.4(DNAAF5):c.1784-14G>A
NM_017802.4(DNAAF5):c.1784-14_1784-13del rs754684802
NM_017802.4(DNAAF5):c.1784-19C>T
NM_017802.4(DNAAF5):c.1785C>A (p.Gly595=)
NM_017802.4(DNAAF5):c.1791C>T (p.Ala597=)
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=)
NM_017802.4(DNAAF5):c.1823C>T (p.Thr608Met)
NM_017802.4(DNAAF5):c.1824G>A (p.Thr608=)
NM_017802.4(DNAAF5):c.1839G>A (p.Leu613=) rs751508824
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=)
NM_017802.4(DNAAF5):c.1856C>G (p.Pro619Arg) rs755871359
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=)
NM_017802.4(DNAAF5):c.1885C>T (p.Leu629=)
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala)
NM_017802.4(DNAAF5):c.1910C>G (p.Thr637Arg)
NM_017802.4(DNAAF5):c.1931+2T>C
NM_017802.4(DNAAF5):c.1931+9G>A
NM_017802.4(DNAAF5):c.1931G>C (p.Gly644Ala)
NM_017802.4(DNAAF5):c.1932-14C>T
NM_017802.4(DNAAF5):c.1932-15C>T
NM_017802.4(DNAAF5):c.1932-16_1932-15del
NM_017802.4(DNAAF5):c.1932-20C>T
NM_017802.4(DNAAF5):c.1932-9C>T
NM_017802.4(DNAAF5):c.1956G>A (p.Thr652=)
NM_017802.4(DNAAF5):c.1959G>A (p.Val653=) rs1583517339
NM_017802.4(DNAAF5):c.1965G>A (p.Lys655=)
NM_017802.4(DNAAF5):c.1977C>G (p.Ala659=)
NM_017802.4(DNAAF5):c.1978C>A (p.Pro660Thr) rs1778670673
NM_017802.4(DNAAF5):c.1995T>A (p.His665Gln)
NM_017802.4(DNAAF5):c.2003G>A (p.Arg668Lys)
NM_017802.4(DNAAF5):c.2013_2028delinsATGGCC (p.Ala672fs) rs1583517442
NM_017802.4(DNAAF5):c.2015C>G (p.Ala672Gly) rs2128084811
NM_017802.4(DNAAF5):c.2016C>A (p.Ala672=)
NM_017802.4(DNAAF5):c.2028T>C (p.Ala676=) rs1583517485
NM_017802.4(DNAAF5):c.2031C>T (p.Ala677=)
NM_017802.4(DNAAF5):c.2067C>T (p.Val689=)
NM_017802.4(DNAAF5):c.2069T>C (p.Leu690Pro) rs761120794
NM_017802.4(DNAAF5):c.2082+32C>G rs6973746
NM_017802.4(DNAAF5):c.2082+5G>A rs1027651909
NM_017802.4(DNAAF5):c.2082+8del rs878855035
NM_017802.4(DNAAF5):c.2083-17G>A
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs) rs1554255966
NM_017802.4(DNAAF5):c.2119C>T (p.Leu707=)
NM_017802.4(DNAAF5):c.2128C>T (p.Leu710=)
NM_017802.4(DNAAF5):c.2129_2140del (p.Leu710_Ser714delinsPro)
NM_017802.4(DNAAF5):c.2151G>A (p.Thr717=)
NM_017802.4(DNAAF5):c.2151G>C (p.Thr717=)
NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter)
NM_017802.4(DNAAF5):c.2167C>T (p.Arg723Cys)
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His)
NM_017802.4(DNAAF5):c.2168G>C (p.Arg723Pro)
NM_017802.4(DNAAF5):c.2172T>C (p.Ile724=)
NM_017802.4(DNAAF5):c.2176A>G (p.Asn726Asp)
NM_017802.4(DNAAF5):c.2178C>T (p.Asn726=)
NM_017802.4(DNAAF5):c.2181G>A (p.Thr727=) rs746205271
NM_017802.4(DNAAF5):c.2197G>A (p.Gly733Ser) rs2128085181
NM_017802.4(DNAAF5):c.2201del (p.Gly734fs)
NM_017802.4(DNAAF5):c.2207C>T (p.Thr736Met)
NM_017802.4(DNAAF5):c.2208G>A (p.Thr736=)
NM_017802.4(DNAAF5):c.2217G>A (p.Glu739=)
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=)
NM_017802.4(DNAAF5):c.2230A>G (p.Ile744Val)
NM_017802.4(DNAAF5):c.2240-18C>T
NM_017802.4(DNAAF5):c.2320_2321del (p.Val774fs)
NM_017802.4(DNAAF5):c.2324A>G (p.Lys775Arg)
NM_017802.4(DNAAF5):c.2329G>A (p.Ala777Thr)
NM_017802.4(DNAAF5):c.2353_2354del (p.Ser785fs) rs878855036
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=)
NM_017802.4(DNAAF5):c.2370G>A (p.Leu790=)
NM_017802.4(DNAAF5):c.2371T>C (p.Tyr791His) rs2128086438
NM_017802.4(DNAAF5):c.2373C>T (p.Tyr791=)
NM_017802.4(DNAAF5):c.2377G>C (p.Glu793Gln) rs2128086442
NM_017802.4(DNAAF5):c.2379G>T (p.Glu793Asp)
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017802.4(DNAAF5):c.2385G>A (p.Leu795=) rs112210659
NM_017802.4(DNAAF5):c.2389C>T (p.His797Tyr)
NM_017802.4(DNAAF5):c.2397C>T (p.Asp799=)
NM_017802.4(DNAAF5):c.2401C>G (p.Pro801Ala)
NM_017802.4(DNAAF5):c.2423C>T (p.Ala808Val) rs1778888401
NM_017802.4(DNAAF5):c.2431+10C>T
NM_017802.4(DNAAF5):c.2431+11G>A
NM_017802.4(DNAAF5):c.2431+19G>A
NM_017802.4(DNAAF5):c.2460C>A (p.Phe820Leu)
NM_017802.4(DNAAF5):c.2479G>C (p.Glu827Gln) rs1304156174
NM_017802.4(DNAAF5):c.2491G>A (p.Val831Ile)
NM_017802.4(DNAAF5):c.2522G>A (p.Cys841Tyr)
NM_017802.4(DNAAF5):c.2541T>C (p.His847=)
NM_017802.4(DNAAF5):c.2555C>T (p.Pro852Leu)
NM_017802.4(DNAAF5):c.596-11C>G
NM_017802.4(DNAAF5):c.596-17G>A rs886038638
NM_017802.4(DNAAF5):c.596-19G>A
NM_017802.4(DNAAF5):c.596-5C>T
NM_017802.4(DNAAF5):c.615G>A (p.Ser205=)
NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)
NM_017802.4(DNAAF5):c.619T>C (p.Ser207Pro)
NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)
NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)
NM_017802.4(DNAAF5):c.630G>T (p.Gly210=)
NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg) rs1060502834
NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser)
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His) rs1395390854
NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro) rs780016631
NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)
NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser) rs149139347
NM_017802.4(DNAAF5):c.699A>G (p.Ala233=) rs1781504659
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017802.4(DNAAF5):c.707_717del (p.His236fs)
NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)
NM_017802.4(DNAAF5):c.733G>A (p.Asp245Asn)
NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr)
NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr) rs1562372184
NM_017802.4(DNAAF5):c.745del (p.His249fs) rs1307353210
NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)
NM_017802.4(DNAAF5):c.763_766del (p.Phe255fs)
NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)
NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=) rs146014916
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)
NM_017802.4(DNAAF5):c.780+10G>T
NM_017802.4(DNAAF5):c.780+14C>T
NM_017802.4(DNAAF5):c.781-4G>A
NM_017802.4(DNAAF5):c.781-5del
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln) rs201059622
NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu) rs201059622
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)
NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)
NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe) rs1583482187
NM_017802.4(DNAAF5):c.804G>A (p.Val268=)
NM_017802.4(DNAAF5):c.805G>A (p.Val269Met)
NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)
NM_017802.4(DNAAF5):c.810_822del (p.Gly271fs)
NM_017802.4(DNAAF5):c.819G>A (p.Leu273=) rs2128072827
NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg)
NM_017802.4(DNAAF5):c.830G>A (p.Arg277His) rs760388668
NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn) rs1583482252
NM_017802.4(DNAAF5):c.839A>T (p.Tyr280Phe)
NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)
NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg)
NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)
NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys) rs753466171
NM_017802.4(DNAAF5):c.898G>A (p.Glu300Lys)
NM_017802.4(DNAAF5):c.903C>G (p.Val301=) rs2128072874
NM_017802.4(DNAAF5):c.905+14C>T
NM_017802.4(DNAAF5):c.905+19G>A
NM_017802.4(DNAAF5):c.905+4C>T rs377210150
NM_017802.4(DNAAF5):c.905+5G>A rs781625543
NM_017802.4(DNAAF5):c.905+7G>A
NM_017802.4(DNAAF5):c.906-125T>G rs6943174
NM_017802.4(DNAAF5):c.906-14_906-11del rs1444250614
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter) rs1489856215
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile)
NM_017802.4(DNAAF5):c.938G>T (p.Gly313Val)
NM_017802.4(DNAAF5):c.943C>T (p.Gln315Ter) rs756233808
NM_017802.4(DNAAF5):c.948G>A (p.Trp316Ter) rs201507046
NM_017802.4(DNAAF5):c.960_961del (p.Asn320fs)
NM_017802.4(DNAAF5):c.987del (p.Phe330fs)
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)

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