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=)
|
|
|