ClinVar Miner

List of variants in gene AFF4 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 359
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.1227-69dup rs34099243 0.88635
NM_014423.4(AFF4):c.2397-37T>C rs11739417 0.21295
NM_014423.4(AFF4):c.3143+20G>A rs45441396 0.15163
NM_014423.4(AFF4):c.2007C>T (p.Pro669=) rs739863 0.11172
NM_014423.4(AFF4):c.1051-55A>G rs12517073 0.11170
NM_014423.4(AFF4):c.3144-52T>A rs997633 0.11168
NM_014423.4(AFF4):c.963+11T>A rs56157864 0.11145
NM_014423.4(AFF4):c.406A>C (p.Thr136Pro) rs34527550 0.01020
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_014423.4(AFF4):c.810G>A (p.Leu270=) rs114858484 0.00920
NM_014423.4(AFF4):c.2397-14G>A rs138999423 0.00554
NM_014423.4(AFF4):c.819G>A (p.Glu273=) rs141383886 0.00480
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu) rs137880283 0.00297
NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala) rs139490054 0.00217
NM_014423.4(AFF4):c.1530C>T (p.Gly510=) rs139523666 0.00121
NM_014423.4(AFF4):c.3000A>G (p.Val1000=) rs141975451 0.00091
NM_014423.4(AFF4):c.2308-13A>G rs189344130 0.00081
NM_014423.4(AFF4):c.3216G>A (p.Gly1072=) rs145016393 0.00074
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_014423.4(AFF4):c.918T>C (p.Asp306=) rs146532485 0.00067
NM_014423.4(AFF4):c.427G>A (p.Gly143Ser) rs111367848 0.00062
NM_014423.4(AFF4):c.1927A>G (p.Ile643Val) rs143974944 0.00059
NM_014423.4(AFF4):c.1389+12G>T rs201228351 0.00047
NM_014423.4(AFF4):c.339C>T (p.Pro113=) rs143884299 0.00034
NM_014423.4(AFF4):c.919-7T>G rs369449554 0.00033
NM_014423.4(AFF4):c.1051-13T>A rs202109434 0.00030
NM_014423.4(AFF4):c.472A>C (p.Asn158His) rs147286490 0.00022
NM_014423.4(AFF4):c.2733-7C>G rs373289956 0.00021
NM_014423.4(AFF4):c.1067A>G (p.Asn356Ser) rs145445063 0.00019
NM_014423.4(AFF4):c.2669C>T (p.Pro890Leu) rs200457433 0.00017
NM_014423.4(AFF4):c.963+12A>T rs574567133 0.00012
NM_014423.4(AFF4):c.1237C>A (p.Pro413Thr) rs148886341 0.00011
NM_014423.4(AFF4):c.1586C>T (p.Pro529Leu) rs188073736 0.00011
NM_014423.4(AFF4):c.2470C>T (p.Pro824Ser) rs200646130 0.00011
NM_014423.4(AFF4):c.1401G>A (p.Pro467=) rs138376057 0.00010
NM_014423.4(AFF4):c.2445C>T (p.Pro815=) rs138116584 0.00010
NM_014423.4(AFF4):c.3261G>A (p.Gln1087=) rs369587813 0.00010
NM_014423.4(AFF4):c.2529A>G (p.Ser843=) rs201355729 0.00009
NM_014423.4(AFF4):c.587G>A (p.Arg196Lys) rs182027704 0.00009
NM_014423.4(AFF4):c.1204A>G (p.Met402Val) rs368333989 0.00006
NM_014423.4(AFF4):c.1209G>A (p.Pro403=) rs186301624 0.00006
NM_014423.4(AFF4):c.177C>T (p.Tyr59=) rs367549038 0.00006
NM_014423.4(AFF4):c.1835A>G (p.Asn612Ser) rs145031583 0.00006
NM_014423.4(AFF4):c.3006-20C>T rs146517201 0.00006
NM_014423.4(AFF4):c.3321C>T (p.Thr1107=) rs745754457 0.00006
NM_014423.4(AFF4):c.624A>G (p.Gln208=) rs201137637 0.00006
NM_014423.4(AFF4):c.411C>T (p.Ser137=) rs776471901 0.00005
NM_014423.4(AFF4):c.963+15A>C rs199651569 0.00005
NM_014423.4(AFF4):c.1227-11A>G rs746328089 0.00004
NM_014423.4(AFF4):c.2027T>G (p.Val676Gly) rs373239602 0.00004
NM_014423.4(AFF4):c.783C>T (p.Asp261=) rs200492884 0.00004
NM_014423.4(AFF4):c.81C>T (p.Ala27=) rs148617173 0.00004
NM_014423.4(AFF4):c.909A>G (p.Gln303=) rs749521715 0.00004
NM_014423.4(AFF4):c.180T>C (p.Asp60=) rs1019841391 0.00003
NM_014423.4(AFF4):c.1865G>A (p.Arg622Gln) rs780325609 0.00003
NM_014423.4(AFF4):c.2601C>T (p.Thr867=) rs77247092 0.00003
NM_014423.4(AFF4):c.2638-17del rs1451005769 0.00003
NM_014423.4(AFF4):c.473A>G (p.Asn158Ser) rs1022009453 0.00003
NM_014423.4(AFF4):c.2308-6A>G rs369340003 0.00002
NM_014423.4(AFF4):c.2446G>A (p.Ala816Thr) rs750323931 0.00002
NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp) rs374444704 0.00002
NM_014423.4(AFF4):c.71G>T (p.Gly24Val) rs1318550187 0.00002
NM_014423.4(AFF4):c.1208C>T (p.Pro403Leu) rs1385541325 0.00001
NM_014423.4(AFF4):c.1268_1270dup (p.Asn423_Ser424insTyr) rs764600828 0.00001
NM_014423.4(AFF4):c.1589G>T (p.Gly530Val) rs1411633307 0.00001
NM_014423.4(AFF4):c.164T>C (p.Met55Thr) rs372786258 0.00001
NM_014423.4(AFF4):c.1728A>G (p.Glu576=) rs1012038410 0.00001
NM_014423.4(AFF4):c.1968T>C (p.Ser656=) rs192660791 0.00001
NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser) rs959176441 0.00001
NM_014423.4(AFF4):c.2033C>T (p.Pro678Leu) rs572126510 0.00001
NM_014423.4(AFF4):c.2121G>A (p.Glu707=) rs1246577547 0.00001
NM_014423.4(AFF4):c.2250A>G (p.Arg750=) rs763815070 0.00001
NM_014423.4(AFF4):c.2303A>G (p.His768Arg) rs144628972 0.00001
NM_014423.4(AFF4):c.2359A>G (p.Lys787Glu) rs746518188 0.00001
NM_014423.4(AFF4):c.2578T>G (p.Ser860Ala) rs752814432 0.00001
NM_014423.4(AFF4):c.2760A>G (p.Gln920=) rs754506500 0.00001
NM_014423.4(AFF4):c.2796+1G>A rs1760162741 0.00001
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) rs780871066 0.00001
NM_014423.4(AFF4):c.3170T>C (p.Val1057Ala) rs1484284468 0.00001
NM_014423.4(AFF4):c.3218C>T (p.Ala1073Val) rs1424102789 0.00001
NM_014423.4(AFF4):c.3411T>C (p.Asn1137=) rs2046255303 0.00001
NM_014423.4(AFF4):c.354T>C (p.Ser118=) rs530630775 0.00001
NM_014423.4(AFF4):c.40C>T (p.Arg14Trp) rs759650836 0.00001
NM_014423.4(AFF4):c.454G>A (p.Asp152Asn) rs760079635 0.00001
NM_014423.4(AFF4):c.7C>T (p.Arg3Cys) rs764154717 0.00001
NM_014423.4(AFF4):c.844A>C (p.Asn282His) rs760426736 0.00001
NM_014423.4(AFF4):c.880C>T (p.His294Tyr) rs571366609 0.00001
NM_014423.4(AFF4):c.1000A>G (p.Ile334Val)
NM_014423.4(AFF4):c.1023A>C (p.Glu341Asp)
NM_014423.4(AFF4):c.102C>G (p.Leu34=)
NM_014423.4(AFF4):c.1039T>C (p.Phe347Leu)
NM_014423.4(AFF4):c.1041T>C (p.Phe347=)
NM_014423.4(AFF4):c.1048A>G (p.Lys350Glu)
NM_014423.4(AFF4):c.1050+18A>G
NM_014423.4(AFF4):c.1051-17A>C rs55844143
NM_014423.4(AFF4):c.1051-17A>G
NM_014423.4(AFF4):c.1051-17A>T
NM_014423.4(AFF4):c.1051-5C>G
NM_014423.4(AFF4):c.1051-5_1051-3del rs767179390
NM_014423.4(AFF4):c.1055C>T (p.Ser352Phe)
NM_014423.4(AFF4):c.1062G>A (p.Gln354=) rs764565803
NM_014423.4(AFF4):c.1087+10del rs761464819
NM_014423.4(AFF4):c.1087+12_1087+15del rs530898028
NM_014423.4(AFF4):c.1087+19_1087+22del
NM_014423.4(AFF4):c.1087+7_1087+10del
NM_014423.4(AFF4):c.1088-13C>A
NM_014423.4(AFF4):c.1088-20C>G
NM_014423.4(AFF4):c.1095T>C (p.Tyr365=)
NM_014423.4(AFF4):c.1104T>C (p.Ser368=)
NM_014423.4(AFF4):c.1114A>G (p.Asn372Asp)
NM_014423.4(AFF4):c.1122C>G (p.His374Gln) rs746005385
NM_014423.4(AFF4):c.1133+3A>G rs1760573869
NM_014423.4(AFF4):c.1133+9A>T rs1482551617
NM_014423.4(AFF4):c.1133C>T (p.Ser378Phe)
NM_014423.4(AFF4):c.1134-15G>C
NM_014423.4(AFF4):c.1134-16T>C
NM_014423.4(AFF4):c.1135A>G (p.Met379Val)
NM_014423.4(AFF4):c.114A>T (p.Pro38=)
NM_014423.4(AFF4):c.1175G>C (p.Ser392Thr)
NM_014423.4(AFF4):c.1226+12T>C
NM_014423.4(AFF4):c.1226+13T>C rs2150074707
NM_014423.4(AFF4):c.1226+17T>A rs202185420
NM_014423.4(AFF4):c.1226+17_1226+21del
NM_014423.4(AFF4):c.1226+18T>A
NM_014423.4(AFF4):c.1226+3G>T
NM_014423.4(AFF4):c.1227-15T>C
NM_014423.4(AFF4):c.1227-99del rs34333760
NM_014423.4(AFF4):c.123+18G>C
NM_014423.4(AFF4):c.123+20A>C
NM_014423.4(AFF4):c.123+3A>G rs1761449425
NM_014423.4(AFF4):c.124-18T>A
NM_014423.4(AFF4):c.124-20T>C rs1290814239
NM_014423.4(AFF4):c.124-27ATTTT[3] rs771676566
NM_014423.4(AFF4):c.124-3T>C
NM_014423.4(AFF4):c.124-5dup
NM_014423.4(AFF4):c.1252A>C (p.Ser418Arg)
NM_014423.4(AFF4):c.1264G>T (p.Asp422Tyr)
NM_014423.4(AFF4):c.1277A>G (p.Asp426Gly)
NM_014423.4(AFF4):c.1279G>A (p.Asp427Asn)
NM_014423.4(AFF4):c.1284T>C (p.Ser428=)
NM_014423.4(AFF4):c.1387G>A (p.Glu463Lys)
NM_014423.4(AFF4):c.1389+13C>T
NM_014423.4(AFF4):c.1390-19A>C
NM_014423.4(AFF4):c.1397C>T (p.Pro466Leu)
NM_014423.4(AFF4):c.1400C>G (p.Pro467Arg)
NM_014423.4(AFF4):c.1401G>T (p.Pro467=) rs138376057
NM_014423.4(AFF4):c.1457T>A (p.Val486Glu)
NM_014423.4(AFF4):c.1457T>G (p.Val486Gly)
NM_014423.4(AFF4):c.145T>C (p.Ser49Pro)
NM_014423.4(AFF4):c.1488C>T (p.Ile496=)
NM_014423.4(AFF4):c.1520_1521delinsAT (p.Arg507His)
NM_014423.4(AFF4):c.1551T>G (p.Asp517Glu)
NM_014423.4(AFF4):c.1554A>G (p.Thr518=)
NM_014423.4(AFF4):c.1557T>C (p.Ser519=)
NM_014423.4(AFF4):c.1559G>T (p.Gly520Val)
NM_014423.4(AFF4):c.1562C>G (p.Pro521Arg)
NM_014423.4(AFF4):c.1565A>C (p.Lys522Thr)
NM_014423.4(AFF4):c.1571C>T (p.Thr524Met)
NM_014423.4(AFF4):c.1607T>C (p.Ile536Thr)
NM_014423.4(AFF4):c.1620A>G (p.Ser540=)
NM_014423.4(AFF4):c.1631G>A (p.Arg544His)
NM_014423.4(AFF4):c.1673A>C (p.Gln558Pro)
NM_014423.4(AFF4):c.1709C>T (p.Ala570Val) rs754975152
NM_014423.4(AFF4):c.1732C>G (p.Pro578Ala)
NM_014423.4(AFF4):c.1766C>A (p.Pro589His)
NM_014423.4(AFF4):c.1768G>A (p.Val590Ile)
NM_014423.4(AFF4):c.1772A>T (p.Asp591Val)
NM_014423.4(AFF4):c.178G>A (p.Asp60Asn) rs2150099058
NM_014423.4(AFF4):c.1795A>G (p.Ser599Gly)
NM_014423.4(AFF4):c.1806A>T (p.Lys602Asn)
NM_014423.4(AFF4):c.1824A>G (p.Ser608=)
NM_014423.4(AFF4):c.1836T>C (p.Asn612=) rs768832734
NM_014423.4(AFF4):c.1839A>G (p.Ile613Met)
NM_014423.4(AFF4):c.1847A>G (p.Glu616Gly)
NM_014423.4(AFF4):c.1864C>T (p.Arg622Ter)
NM_014423.4(AFF4):c.1870A>G (p.Thr624Ala)
NM_014423.4(AFF4):c.1889A>G (p.Tyr630Cys)
NM_014423.4(AFF4):c.1918T>C (p.Ser640Pro)
NM_014423.4(AFF4):c.1975C>T (p.Leu659Phe)
NM_014423.4(AFF4):c.197T>C (p.Ile66Thr)
NM_014423.4(AFF4):c.1982C>G (p.Pro661Arg)
NM_014423.4(AFF4):c.1999A>G (p.Lys667Glu)
NM_014423.4(AFF4):c.19A>C (p.Asn7His)
NM_014423.4(AFF4):c.2016T>C (p.Asn672=)
NM_014423.4(AFF4):c.2023_2025del (p.Pro675del) rs775664387
NM_014423.4(AFF4):c.2028T>C (p.Val676=)
NM_014423.4(AFF4):c.2045A>G (p.Glu682Gly)
NM_014423.4(AFF4):c.2057G>C (p.Ser686Thr)
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) rs1581278077
NM_014423.4(AFF4):c.2123C>T (p.Pro708Leu)
NM_014423.4(AFF4):c.2144T>C (p.Ile715Thr) rs755145233
NM_014423.4(AFF4):c.2162A>G (p.Asn721Ser) rs1003277559
NM_014423.4(AFF4):c.2173A>G (p.Arg725Gly)
NM_014423.4(AFF4):c.2174G>C (p.Arg725Thr) rs138811630
NM_014423.4(AFF4):c.2189C>G (p.Pro730Arg) rs1581277937
NM_014423.4(AFF4):c.2198A>T (p.Glu733Val)
NM_014423.4(AFF4):c.2207C>T (p.Pro736Leu)
NM_014423.4(AFF4):c.2233C>T (p.Pro745Ser)
NM_014423.4(AFF4):c.2234C>T (p.Pro745Leu)
NM_014423.4(AFF4):c.2236G>C (p.Glu746Gln) rs2150072399
NM_014423.4(AFF4):c.2240A>G (p.Lys747Arg)
NM_014423.4(AFF4):c.2243A>T (p.His748Leu) rs1760397242
NM_014423.4(AFF4):c.2257C>G (p.Gln753Glu)
NM_014423.4(AFF4):c.2272G>A (p.Glu758Lys)
NM_014423.4(AFF4):c.2274A>G (p.Glu758=)
NM_014423.4(AFF4):c.2277A>C (p.Lys759Asn)
NM_014423.4(AFF4):c.2281T>C (p.Ser761Pro)
NM_014423.4(AFF4):c.229A>T (p.Ile77Phe)
NM_014423.4(AFF4):c.2307+18del
NM_014423.4(AFF4):c.2308-19G>A
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)
NM_014423.4(AFF4):c.2344C>T (p.Pro782Ser)
NM_014423.4(AFF4):c.2351C>T (p.Thr784Met)
NM_014423.4(AFF4):c.2396+5G>A
NM_014423.4(AFF4):c.2397-18A>G
NM_014423.4(AFF4):c.2397-19C>T
NM_014423.4(AFF4):c.239C>G (p.Pro80Arg)
NM_014423.4(AFF4):c.2417C>A (p.Ala806Glu)
NM_014423.4(AFF4):c.2459C>G (p.Pro820Arg)
NM_014423.4(AFF4):c.247C>A (p.Pro83Thr)
NM_014423.4(AFF4):c.2482C>T (p.His828Tyr)
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg) rs763295786
NM_014423.4(AFF4):c.2507G>A (p.Ser836Asn)
NM_014423.4(AFF4):c.2521T>C (p.Leu841=)
NM_014423.4(AFF4):c.2547G>C (p.Lys849Asn)
NM_014423.4(AFF4):c.2552C>T (p.Thr851Met)
NM_014423.4(AFF4):c.2590C>G (p.Gln864Glu) rs2150069583
NM_014423.4(AFF4):c.2606G>A (p.Gly869Glu)
NM_014423.4(AFF4):c.2615C>G (p.Ser872Cys)
NM_014423.4(AFF4):c.2624C>T (p.Ser875Phe)
NM_014423.4(AFF4):c.2637+20G>A
NM_014423.4(AFF4):c.2637+8G>T
NM_014423.4(AFF4):c.2638-16A>G
NM_014423.4(AFF4):c.2644G>C (p.Ala882Pro)
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
NM_014423.4(AFF4):c.2661T>C (p.Ser887=)
NM_014423.4(AFF4):c.2678C>T (p.Ala893Val)
NM_014423.4(AFF4):c.2702C>T (p.Pro901Leu) rs2150067444
NM_014423.4(AFF4):c.2705G>A (p.Arg902Gln)
NM_014423.4(AFF4):c.2719G>A (p.Val907Ile)
NM_014423.4(AFF4):c.2721C>A (p.Val907=)
NM_014423.4(AFF4):c.2724T>C (p.Phe908=)
NM_014423.4(AFF4):c.2733-9G>A
NM_014423.4(AFF4):c.2796+14C>T
NM_014423.4(AFF4):c.2796+19del
NM_014423.4(AFF4):c.2797-7T>G
NM_014423.4(AFF4):c.2801A>T (p.Asp934Val)
NM_014423.4(AFF4):c.2896C>T (p.Pro966Ser)
NM_014423.4(AFF4):c.2934-19_2934-11del
NM_014423.4(AFF4):c.2934-20_2934-19dup
NM_014423.4(AFF4):c.29G>A (p.Arg10His)
NM_014423.4(AFF4):c.3003T>C (p.Leu1001=)
NM_014423.4(AFF4):c.3006-19G>A
NM_014423.4(AFF4):c.3015C>T (p.Cys1005=)
NM_014423.4(AFF4):c.3021T>C (p.Ser1007=)
NM_014423.4(AFF4):c.3054G>A (p.Lys1018=)
NM_014423.4(AFF4):c.308A>T (p.His103Leu)
NM_014423.4(AFF4):c.3093C>T (p.His1031=)
NM_014423.4(AFF4):c.3099+2T>C rs1554073525
NM_014423.4(AFF4):c.3099+8T>G
NM_014423.4(AFF4):c.3109AAT[1] (p.Asn1038del)
NM_014423.4(AFF4):c.3116C>T (p.Ser1039Phe) rs1369152967
NM_014423.4(AFF4):c.3128C>T (p.Ser1043Leu)
NM_014423.4(AFF4):c.3129G>T (p.Ser1043=) rs531149803
NM_014423.4(AFF4):c.3144-17C>T
NM_014423.4(AFF4):c.3166C>G (p.Pro1056Ala)
NM_014423.4(AFF4):c.316A>G (p.Ser106Gly) rs1001396258
NM_014423.4(AFF4):c.318C>A (p.Ser106Arg) rs1761386475
NM_014423.4(AFF4):c.3207T>C (p.Tyr1069=) rs1760039116
NM_014423.4(AFF4):c.3210A>T (p.Ser1070=)
NM_014423.4(AFF4):c.3242C>G (p.Ser1081Cys)
NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala)
NM_014423.4(AFF4):c.3274A>G (p.Met1092Val)
NM_014423.4(AFF4):c.3289G>A (p.Val1097Ile)
NM_014423.4(AFF4):c.329C>T (p.Pro110Leu)
NM_014423.4(AFF4):c.3312C>G (p.Leu1104=) rs375501684
NM_014423.4(AFF4):c.3320C>T (p.Thr1107Ile)
NM_014423.4(AFF4):c.3353A>G (p.Lys1118Arg) rs1413801635
NM_014423.4(AFF4):c.3358C>G (p.Gln1120Glu)
NM_014423.4(AFF4):c.3364+19A>G rs1684636321
NM_014423.4(AFF4):c.3364+7A>G
NM_014423.4(AFF4):c.3365-17T>A
NM_014423.4(AFF4):c.3365-17T>C
NM_014423.4(AFF4):c.3414A>G (p.Ala1138=)
NM_014423.4(AFF4):c.3425C>T (p.Thr1142Ile)
NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)
NM_014423.4(AFF4):c.3450G>A (p.Gln1150=) rs1581264701
NM_014423.4(AFF4):c.3475G>A (p.Ala1159Thr)
NM_014423.4(AFF4):c.3480G>A (p.Lys1160=)
NM_014423.4(AFF4):c.371C>A (p.Ser124Tyr)
NM_014423.4(AFF4):c.387T>C (p.Ser129=)
NM_014423.4(AFF4):c.395G>A (p.Ser132Asn)
NM_014423.4(AFF4):c.397_399dup (p.Ser133_Gln134insSer)
NM_014423.4(AFF4):c.404G>A (p.Arg135Gln)
NM_014423.4(AFF4):c.41G>A (p.Arg14Gln)
NM_014423.4(AFF4):c.422G>A (p.Ser141Asn) rs1393725898
NM_014423.4(AFF4):c.435C>T (p.Asn145=)
NM_014423.4(AFF4):c.437G>T (p.Ser146Ile) rs758814088
NM_014423.4(AFF4):c.453C>T (p.His151=)
NM_014423.4(AFF4):c.455A>G (p.Asp152Gly) rs1761381810
NM_014423.4(AFF4):c.458G>A (p.Arg153His)
NM_014423.4(AFF4):c.465A>C (p.Ser155=)
NM_014423.4(AFF4):c.467A>G (p.Tyr156Cys)
NM_014423.4(AFF4):c.468T>C (p.Tyr156=)
NM_014423.4(AFF4):c.484A>G (p.Ser162Gly)
NM_014423.4(AFF4):c.490C>T (p.Arg164Trp)
NM_014423.4(AFF4):c.493A>C (p.Lys165Gln) rs2150098662
NM_014423.4(AFF4):c.498A>G (p.Lys166=)
NM_014423.4(AFF4):c.516_518dup (p.Glu172_His173insGln) rs755428630
NM_014423.4(AFF4):c.521C>G (p.Ser174Cys)
NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)
NM_014423.4(AFF4):c.556G>A (p.Ala186Thr)
NM_014423.4(AFF4):c.557C>G (p.Ala186Gly)
NM_014423.4(AFF4):c.559G>A (p.Val187Ile)
NM_014423.4(AFF4):c.560T>C (p.Val187Ala)
NM_014423.4(AFF4):c.580C>A (p.His194Asn)
NM_014423.4(AFF4):c.626G>A (p.Arg209His)
NM_014423.4(AFF4):c.634T>C (p.Ser212Pro)
NM_014423.4(AFF4):c.647C>G (p.Pro216Arg) rs2150098464
NM_014423.4(AFF4):c.673C>G (p.Arg225Gly) rs141402018
NM_014423.4(AFF4):c.673C>T (p.Arg225Cys)
NM_014423.4(AFF4):c.674G>A (p.Arg225His)
NM_014423.4(AFF4):c.680C>A (p.Pro227His)
NM_014423.4(AFF4):c.690T>C (p.Ser230=)
NM_014423.4(AFF4):c.72C>T (p.Gly24=)
NM_014423.4(AFF4):c.734dup (p.Ser246fs)
NM_014423.4(AFF4):c.73G>A (p.Glu25Lys)
NM_014423.4(AFF4):c.73G>C (p.Glu25Gln)
NM_014423.4(AFF4):c.746T>C (p.Met249Thr)
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu)
NM_014423.4(AFF4):c.760A>G (p.Thr254Ala) rs786205233
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.762T>C (p.Thr254=)
NM_014423.4(AFF4):c.764C>T (p.Ala255Val)
NM_014423.4(AFF4):c.767A>G (p.Tyr256Cys) rs2150098319
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln) rs2150098310
NM_014423.4(AFF4):c.777C>T (p.Pro259=)
NM_014423.4(AFF4):c.778A>G (p.Met260Val) rs2150098305
NM_014423.4(AFF4):c.79G>A (p.Ala27Thr)
NM_014423.4(AFF4):c.820C>T (p.His274Tyr)
NM_014423.4(AFF4):c.824A>G (p.Tyr275Cys)
NM_014423.4(AFF4):c.830G>T (p.Ser277Ile) rs141068875
NM_014423.4(AFF4):c.850A>G (p.Met284Val)
NM_014423.4(AFF4):c.879del (p.His294fs)
NM_014423.4(AFF4):c.918+11C>T
NM_014423.4(AFF4):c.918+19G>T
NM_014423.4(AFF4):c.919-12T>G rs2150096739
NM_014423.4(AFF4):c.919-4C>G
NM_014423.4(AFF4):c.92G>A (p.Ser31Asn)
NM_014423.4(AFF4):c.935A>G (p.Asp312Gly)
NM_014423.4(AFF4):c.95C>G (p.Ser32Cys)
NM_014423.4(AFF4):c.963+10_963+11inv
NM_014423.4(AFF4):c.963+12dup rs56817345
NM_014423.4(AFF4):c.963+20T>A
NM_014423.4(AFF4):c.964-18G>A
NM_014423.4(AFF4):c.971C>T (p.Thr324Met)
NM_014423.4(AFF4):c.987C>T (p.Pro329=)
NM_014423.4(AFF4):c.991C>G (p.Leu331Val)

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