HNF4A hepatocyte nuclear factor 4 alpha

Canonical transcript: NM_000457

323 unique variant annotations were identified in 379 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
20-43029931-G-A c.-82G>A - 5-UTRSNV 1/10 - 1
20-43029952-G-A c.-61G>A - 5-UTRSNV 1/10 - 1
20-43029988-T-A c.-25T>A - 5-UTRSNV 1/10 - 1
20-43029988-T-G c.-25T>G - 5-UTRSNV 1/10 - 1
20-43030001-G-A c.-12G>A - 5-UTRSNV 1/10 - 2
20-43030015-G-A c.3G>A p.Met1? Missense 1/10 - 1
20-43030015-G-T c.3G>T p.Met1? Missense 1/10 - 1
20-43030016-C-A c.4C>A p.Arg2Arg Synonymous 1/10 - 26
20-43030018-A-C c.6A>C p.Arg2Arg Synonymous 1/10 - 26
20-43030018-A-G c.6A>G p.Arg2Arg Synonymous 1/10 - 26
20-43030018-A-T c.6A>T p.Arg2Arg Synonymous 1/10 - 26
20-43030040-ATG-CAT c.28_30inv p.Met10His Missense 1/10 - 1
20-43030043-G-A c.31G>A p.Asp11Asn Missense 1/10 - 2
20-43030047-T-G c.35T>G p.Met12Arg Missense 1/10 - 1
20-43030050-C-A c.38C>A p.Ala13Asp Missense 1/10 - 1
20-43030050-C-T c.38C>T p.Ala13Val Missense 1/10 - 1
20-43030053-A-C c.41A>C p.Asp14Ala Missense 1/10 - 1
20-43030058-AG-GC c.46_47delinsGC p.Ser16Ala Missense 1/10 - 3
20-43030061-G-A c.49G>A p.Ala17Thr Missense 1/10 - 1
20-43030071-A-C c.59A>C p.Asp20Ala Missense 1/10 - 1
20-43030071-A-G c.59A>G p.Asp20Gly Missense 1/10 - 1
20-43030077-C-T c.65C>T p.Ala22Val Missense 1/10 - 1
20-43030079-TA-CC c.67_68delinsCC p.Tyr23Pro Missense 1/10 - 1
20-43030083-C-A c.71C>A p.Thr24Asn Missense 1/10 - 1
20-43030106-C-T c.94C>T p.Gln32* Nonsense 1/10 - 2
20-43030110-T-C c.98T>C p.Val33Ala Missense 1/10 - 1
20-43030111-G-T c.99G>T p.Val33Val Synonymous 1/10 - 1
20-43030121-GGC-TGG c.109_111delinsTGG p.Gly37Trp Missense 1/10 - 1
20-43030311-A-C c.115+184A>C - IntronicSNV - 1/9 1
20-43030435-G-A c.115+308G>A - IntronicSNV - 1/9 14
20-43030809-C-A c.115+682C>A - IntronicSNV - 1/9 2
20-43030866-T-C c.115+739T>C - IntronicSNV - 1/9 3
20-43030956-C-T c.115+829C>T - IntronicSNV - 1/9 4
20-43031644-G-A c.115+1517G>A - IntronicSNV - 1/9 2
20-43031855-G-T c.115+1728G>T - IntronicSNV - 1/9 2
20-43033095-G-C c.116-1603G>C - IntronicSNV - 1/9 1
20-43034016-G-A c.116-682G>A - IntronicSNV - 1/9 2
20-43034016-G-C c.116-682G>C - IntronicSNV - 1/9 2
20-43034171-A-G c.116-527A>G - IntronicSNV - 1/9 1
20-43034171-A-T c.116-527A>T - IntronicSNV - 1/9 1
20-43034468-A-G c.116-230A>G - IntronicSNV - 1/9 1
20-43034513-C-G c.116-185C>G - IntronicSNV - 1/9 4
20-43034660-T-C c.116-38T>C - IntronicSNV - 1/9 7
20-43034693-C-T c.116-5C>T - IntronicSNV - 1/9 15
20-43034712-G-A c.130G>A p.Glu44Lys Missense 2/10 - 1
20-43034716-G-A c.134G>A p.Gly45Asp Missense 2/10 - 1
20-43034726-C-T c.144C>T p.Leu48Leu Synonymous 2/10 - 1
20-43034734-C-A c.152C>A p.Pro51His Missense 2/10 - 1
20-43034746-G-A c.164G>A p.Gly55Asp Missense 2/10 - 1
20-43034755-C-A c.173C>A p.Ala58Asp Missense 2/10 - 1
20-43034755-CC-AG c.173_174delinsAG p.Ala58Glu Missense 2/10 - 1
20-43034757-C-T c.175C>T p.Leu59Leu Synonymous 2/10 - 1
20-43034767-T-C c.185T>C p.Ile62Thr Missense 2/10 - 1
20-43034770-G-T c.188G>T p.Cys63Phe Missense 2/10 - 1
20-43034773-G-A c.191G>A p.Gly64Glu Missense 2/10 - 1
20-43034775-GG-G c.193del p.Asp65Thrfs*61 Frameshift 2/10 - 1
20-43034781-GC-TG c.199_200delinsTG p.Ala67Cys Missense 2/10 - 1
20-43034783-C-T c.201C>T p.Ala67Ala Synonymous 2/10 - 3
20-43034803-C-A c.221C>A p.Ala74Asp Missense 2/10 - 1
20-43034808-AG-TT c.226_227delinsTT p.Ser76Phe Missense 2/10 - 1
20-43034811-TG-AC c.229_230delinsAC p.Cys77Thr Missense 2/10 - 2
20-43034814-G-C c.232G>C p.Asp78His Missense 2/10 - 1
20-43034816-C-A c.234C>A p.Asp78Glu Missense 2/10 - 1
20-43034816-C-G c.234C>G p.Asp78Glu Missense 2/10 - 1
20-43034817-G-A c.235G>A p.Gly79Ser Missense 2/10 - 1
20-43034817-G-T c.235G>T p.Gly79Cys Missense 2/10 - 1
20-43034821-G-A c.239G>A p.Cys80Tyr Missense 2/10 - 1
20-43034821-G-C c.239G>C p.Cys80Ser Missense 2/10 - 1
20-43034826-G-A c.244G>A p.Gly82Ser Missense 2/10 - 1
20-43034830-T-G c.248T>G p.Phe83Cys Missense 2/10 - 1
20-43034832-TTC-GAG c.250_252delinsGAG p.Phe84Glu Missense 2/10 - 1
20-43034835-C-T c.253C>T p.Arg85Trp Missense 2/10 - 2
20-43034841-AG-CC c.259_260delinsCC p.Ser87Pro Missense 2/10 - 1
20-43034841-AG-GA c.259_260delinsGA p.Ser87Asp Missense 2/10 - 1
20-43034847-CGG-TGT c.265_267delinsTGT p.Arg89Cys Missense 2/10 - 1
20-43034847-C-T c.265C>T p.Arg89Trp Missense 2/10 - 3
20-43034848-G-A c.266G>A p.Arg89Gln Missense 2/10 - 1
20-43034848-G-C c.266G>C p.Arg89Pro Missense 2/10 - 1
20-43034848-GG-AT c.266_267delinsAT p.Arg89His Missense 2/10 - 1
20-43034848-G-T c.266G>T p.Arg89Leu Missense 2/10 - 1
20-43034869-G-A c.287G>A p.Cys96Tyr Missense 2/10 - 6
20-43034869-G-C c.287G>C p.Cys96Ser Missense 2/10 - 1
20-43035138-C-T c.290+266C>T - IntronicSNV - 2/9 11
20-43035160-G-A c.290+288G>A - IntronicSNV - 2/9 5
20-43035160-G-C c.290+288G>C - IntronicSNV - 2/9 5
20-43035780-C-T c.291-241C>T - IntronicSNV - 2/9 4
20-43036028-C-A c.298C>A p.Arg100Arg Synonymous 3/10 - 1
20-43036028-CG-AT c.298_299delinsAT p.Arg100Met Missense 3/10 - 1
20-43036029-G-A c.299G>A p.Arg100Gln Missense 3/10 - 1
20-43036037-G-A c.307G>A p.Val103Met Missense 3/10 - 3
20-43036043-G-A c.313G>A p.Asp105Asn Missense 3/10 - 2
20-43036053-A-G c.323A>G p.Lys108Arg Missense 3/10 - 2
20-43036056-G-A c.326G>A p.Arg109Lys Missense 3/10 - 1
20-43036064-T-C c.334T>C p.Cys112Arg Missense 3/10 - 1
20-43036065-G-A c.335G>A p.Cys112Tyr Missense 3/10 - 1
20-43036067-C-T c.337C>T p.Arg113Cys Missense 3/10 - 1
20-43036068-G-A c.338G>A p.Arg113His Missense 3/10 - 1
20-43036076-AGG-TGT c.346_348delinsTGT p.Arg116Cys Missense 3/10 - 1
20-43036095-G-T c.365G>T p.Arg122Leu Missense 3/10 - 1
20-43036100-G-A c.370G>A p.Gly124Ser Missense 3/10 - 1
20-43036104-ATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACC-A c.374_385+47del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/10 3/9 1
20-43036105-G-A c.375G>A p.Met125Ile Missense 3/10 - 1
20-43036105-G-C c.375G>C p.Met125Ile Missense 3/10 - 1
20-43036105-G-T c.375G>T p.Met125Ile Missense 3/10 - 1
20-43036112-G-T c.382G>T p.Glu128* Nonsense 3/10 - 1
20-43036452-G-A c.385+337G>A - IntronicSNV - 3/9 4
20-43036691-T-G c.385+576T>G - IntronicSNV - 3/9 2
20-43037013-G-A c.385+898G>A - IntronicSNV - 3/9 3
20-43037422-A-G c.385+1307A>G - IntronicSNV - 3/9 1
20-43037984-T-C c.385+1869T>C - IntronicSNV - 3/9 1
20-43038208-T-C c.385+2093T>C - IntronicSNV - 3/9 3
20-43038249-C-T c.385+2134C>T - IntronicSNV - 3/9 2
20-43039040-G-A c.385+2925G>A - IntronicSNV - 3/9 10
20-43039263-C-T c.386-3071C>T - IntronicSNV - 3/9 2
20-43039537-G-A c.386-2797G>A - IntronicSNV - 3/9 5
20-43039537-G-C c.386-2797G>C - IntronicSNV - 3/9 5
20-43040137-C-G c.386-2197C>G - IntronicSNV - 3/9 1
20-43040137-C-T c.386-2197C>T - IntronicSNV - 3/9 1
20-43040915-A-C c.386-1419A>C - IntronicSNV - 3/9 4
20-43041131-G-A c.386-1203G>A - IntronicSNV - 3/9 2
20-43041131-G-T c.386-1203G>T - IntronicSNV - 3/9 2
20-43041395-T-C c.386-939T>C - IntronicSNV - 3/9 1
20-43041591-C-T c.386-743C>T - IntronicSNV - 3/9 3
20-43042130-C-G c.386-204C>G - IntronicSNV - 3/9 1
20-43042337-T-C c.389T>C p.Val130Ala Missense 4/10 - 1
20-43042339-C-T c.391C>T p.Gln131* Nonsense 4/10 - 1
20-43042348-C-T c.400C>T p.Arg134Trp Missense 4/10 - 2
20-43042349-G-A c.401G>A p.Arg134Gln Missense 4/10 - 1
20-43042354-C-G c.406C>G p.Arg136Gly Missense 4/10 - 2
20-43042354-C-T c.406C>T p.Arg136Trp Missense 4/10 - 4
20-43042364-C-T c.416C>T p.Thr139Ile Missense 4/10 - 176
20-43042369-AG-GA c.421_422delinsGA p.Arg141Glu Missense 4/10 - 1
20-43042370-G-C c.422G>C p.Arg141Thr Missense 4/10 - 1
20-43042372-T-C c.424T>C p.Ser142Pro Missense 4/10 - 1
20-43042375-AAG-A c.427_428del p.Ser143Leufs*2 Frameshift 4/10 - 1
20-43042375-A-G c.427A>G p.Ser143Gly Missense 4/10 - 1
20-43042375-AG-CC c.427_428delinsCC p.Ser143Pro Missense 4/10 - 1
20-43042386-C-G c.438C>G p.Asp146Glu Missense 4/10 - 1
20-43042390-AG-CT c.442_443inv p.Ser148Leu Missense 4/10 - 3
20-43042390-AGC-TGG c.442_444delinsTGG p.Ser148Trp Missense 4/10 - 2
20-43042398-C-A c.450C>A p.Pro150Pro Synonymous 4/10 - 1
20-43042399-T-C c.451T>C p.Ser151Pro Missense 4/10 - 3
20-43042400-C-G c.452C>G p.Ser151Cys Missense 4/10 - 1
20-43042408-G-C c.460G>C p.Ala154Pro Missense 4/10 - 1
20-43042415-T-C c.467T>C p.Leu156Pro Missense 4/10 - 1
20-43042421-C-T c.473C>T p.Ala158Val Missense 4/10 - 1
20-43042426-G-A c.478G>A p.Val160Ile Missense 4/10 - 1
20-43042436-G-A c.488G>A p.Arg163Gln Missense 4/10 - 1
20-43042438-C-T c.490C>T p.Gln164* Nonsense 4/10 - 1
20-43042950-A-C c.493-197A>C - IntronicSNV - 4/9 1
20-43043095-G-A c.493-52G>A - IntronicSNV - 4/9 3
20-43043150-A-G c.496A>G p.Thr166Ala Missense 5/10 - 1
20-43043153-T-C c.499T>C p.Ser167Pro Missense 5/10 - 1
20-43043158-C-G c.504C>G p.Pro168Pro Synonymous 5/10 - 1
20-43043159-G-A c.505G>A p.Val169Ile Missense 5/10 - 4
20-43043168-A-G c.514A>G p.Ile172Val Missense 5/10 - 1
20-43043177-G-A c.523G>A p.Asp175Asn Missense 5/10 - 1
20-43043183-CG-TA c.529_530delinsTA p.Arg177* Nonsense 5/10 - 3
20-43043184-G-A c.530G>A p.Arg177Gln Missense 5/10 - 1
20-43043187-C-T c.533C>T p.Ala178Val Missense 5/10 - 2
20-43043198-G-A c.544G>A p.Ala182Thr Missense 5/10 - 2
20-43043198-G-T c.544G>T p.Ala182Ser Missense 5/10 - 1
20-43043210-G-A c.556G>A p.Asp186Asn Missense 5/10 - 1
20-43043213-G-T c.559G>T p.Val187Leu Missense 5/10 - 1
20-43043225-AT-TA c.571_572delinsTA p.Met191* Nonsense 5/10 - 1
20-43043249-G-C c.595G>C p.Val199Leu Missense 5/10 - 1
20-43043250-T-G c.596T>G p.Val199Gly Missense 5/10 - 1
20-43043271-C-T c.617C>T p.Pro206Leu Missense 5/10 - 2
20-43043272-A-G c.618A>G p.Pro206Pro Synonymous 5/10 - 1
20-43043274-C-T c.620C>T p.Ala207Val Missense 5/10 - 1
20-43043289-C-T c.635C>T p.Pro212Leu Missense 5/10 - 1
20-43043291-C-T c.637C>T p.Leu213Leu Synonymous 5/10 - 1
20-43043292-T-C c.638T>C p.Leu213Pro Missense 5/10 - 1
20-43043300-C-T c.646C>T p.Gln216* Nonsense 5/10 - 1
20-43044207-T-C c.648+905T>C - IntronicSNV - 5/9 3
20-43044362-C-G c.648+1060C>G - IntronicSNV - 5/9 12
20-43044362-C-T c.648+1060C>T - IntronicSNV - 5/9 12
20-43046045-T-C c.649-1020T>C - IntronicSNV - 5/9 4
20-43046045-T-G c.649-1020T>G - IntronicSNV - 5/9 4
20-43046929-T-C c.649-136T>C - IntronicSNV - 5/9 1
20-43047071-C-A c.655C>A p.Leu219Met Missense 6/10 - 1
20-43047075-TC-AA c.659_660delinsAA p.Leu220Gln Missense 6/10 - 1
20-43047078-G-A c.662G>A p.Arg221Lys Missense 6/10 - 1
20-43047086-G-A c.670G>A p.Ala224Thr Missense 6/10 - 1
20-43047092-G-A c.676G>A p.Glu226Lys Missense 6/10 - 1
20-43047108-G-A c.692G>A p.Gly231Glu Missense 6/10 - 1
20-43047111-C-A c.695C>A p.Ala232Asp Missense 6/10 - 1
20-43047119-A-G c.703A>G p.Arg235Gly Missense 6/10 - 1
20-43047127-G-A c.711G>A p.Met237Ile Missense 6/10 - 1
20-43047137-G-A c.721G>A p.Asp241Asn Missense 6/10 - 1
20-43047139-C-G c.723C>G p.Asp241Glu Missense 6/10 - 1
20-43047144-T-C c.728T>C p.Leu243Pro Missense 6/10 - 1
20-43047150-CT-C c.734del p.Leu245Glnfs*17 Frameshift 6/10 - 1
20-43047151-A-G c.735A>G p.Leu245Leu Synonymous 6/10 - 1
20-43047152-G-C c.736G>C p.Gly246Arg Missense 6/10 - 1
20-43047293-A-G c.736+141A>G - IntronicSNV - 6/9 2
20-43047348-G-A c.736+196G>A - IntronicSNV - 6/9 1
20-43048361-G-C c.737G>C p.Gly246Ala Missense 7/10 - 2
20-43048373-T-C c.749T>C p.Ile250Thr Missense 7/10 - 1
20-43048375-G-A c.751G>A p.Val251Ile Missense 7/10 - 1
20-43048382-G-A c.758G>A p.Arg253Gln Missense 7/10 - 1
20-43048391-C-T c.767C>T p.Pro256Leu Missense 7/10 - 1
20-43048392-G-C c.768G>C p.Pro256Pro Synonymous 7/10 - 1
20-43048399-G-A c.775G>A p.Ala259Thr Missense 7/10 - 1
20-43048400-C-T c.776C>T p.Ala259Val Missense 7/10 - 1
20-43048411-CCGGGTGTCCATACGC-C c.787_801del p.Arg263_Arg267del InFrameDeletion 7/10 - 1
20-43048411-CGG-TGT c.787_789delinsTGT p.Arg263Cys Missense 7/10 - 1
20-43048411-C-T c.787C>T p.Arg263Trp Missense 7/10 - 1
20-43048412-G-A c.788G>A p.Arg263Gln Missense 7/10 - 1
20-43048412-GG-AT c.788_789delinsAT p.Arg263His Missense 7/10 - 1
20-43048412-G-T c.788G>T p.Arg263Leu Missense 7/10 - 3
20-43048423-C-A c.799C>A p.Arg267Ser Missense 7/10 - 1
20-43048423-C-G c.799C>G p.Arg267Gly Missense 7/10 - 1
20-43048423-C-T c.799C>T p.Arg267Cys Missense 7/10 - 1
20-43048424-G-C c.800G>C p.Arg267Pro Missense 7/10 - 1
20-43048424-G-T c.800G>T p.Arg267Leu Missense 7/10 - 1
20-43048427-T-G c.803T>G p.Ile268Ser Missense 7/10 - 1
20-43048432-G-A c.808G>A p.Asp270Asn Missense 7/10 - 1
20-43048445-CTGC-C c.821_823del p.Leu274del InFrameDeletion 7/10 - 1
20-43048447-C-T c.823C>T p.Pro275Ser Missense 7/10 - 2
20-43048458-G-C c.834G>C p.Glu278Asp Missense 7/10 - 1
20-43048460-T-A c.836T>A p.Leu279Gln Missense 7/10 - 1
20-43048462-CAG-TTC c.838_840delinsTTC p.Gln280Phe Missense 7/10 - 1
20-43048462-C-T c.838C>T p.Gln280* Nonsense 7/10 - 1
20-43048464-G-C c.840G>C p.Gln280His Missense 7/10 - 1
20-43048480-TA-CC c.856_857delinsCC p.Tyr286Pro Missense 7/10 - 1
20-43048489-C-T c.865C>T p.Leu289Phe Missense 7/10 - 3
20-43048497-C-CC c.873dup p.Ile292Hisfs*5 Frameshift 7/10 - 1
20-43048501-A-AA c.877dup p.Ile293Asnfs*4 Frameshift 7/10 - 1
20-43048502-T-C c.878T>C p.Ile293Thr Missense 7/10 - 1
20-43048504-T-A c.880T>A p.Phe294Ile Missense 7/10 - 1
20-43050761-T-G c.893-1897T>G - IntronicSNV - 7/9 4
20-43050981-A-C c.893-1677A>C - IntronicSNV - 7/9 1
20-43050981-A-T c.893-1677A>T - IntronicSNV - 7/9 1
20-43051213-T-C c.893-1445T>C - IntronicSNV - 7/9 2
20-43052148-A-C c.893-510A>C - IntronicSNV - 7/9 1
20-43052570-T-C c.893-88T>C - IntronicSNV - 7/9 2
20-43052660-G-C c.895G>C p.Ala299Pro Missense 8/10 - 1
20-43052663-A-G c.898A>G p.Lys300Glu Missense 8/10 - 1
20-43052687-A-T c.922A>T p.Ile308Phe Missense 8/10 - 1
20-43052693-C-T c.928C>T p.Arg310Trp Missense 8/10 - 2
20-43052694-G-A c.929G>A p.Arg310Gln Missense 8/10 - 2
20-43052702-T-C c.937T>C p.Ser313Pro Missense 8/10 - 1
20-43052702-TC-GA c.937_938inv p.Ser313Asp Missense 8/10 - 1
20-43052705-C-T c.940C>T p.Gln314* Nonsense 8/10 - 2
20-43052709-T-C c.944T>C p.Val315Ala Missense 8/10 - 1
20-43052720-TT-CC c.955_956delinsCC p.Leu319Pro Missense 8/10 - 1
20-43052730-A-G c.965A>G p.Tyr322Cys Missense 8/10 - 2
20-43052752-ACTCGCGTGGCCGCTTTG-A c.987_1003del p.Asp329Glufs*33 Frameshift 8/10 - 1
20-43052753-T-G c.988T>G p.Ser330Ala Missense 8/10 - 1
20-43052756-C-T c.991C>T p.Arg331Cys Missense 8/10 - 1
20-43052757-G-A c.992G>A p.Arg331His Missense 8/10 - 1
20-43052763-G-A c.998G>A p.Arg333His Missense 8/10 - 1
20-43052774-C-T c.1009C>T p.Leu337Leu Synonymous 8/10 - 1
20-43052783-CT-GC c.1018_1019delinsGC p.Leu340Ala Missense 8/10 - 1
20-43052786-CTG-TTT c.1021_1023delinsTTT p.Leu341Phe Missense 8/10 - 1
20-43052787-T-C c.1022T>C p.Leu341Pro Missense 8/10 - 1
20-43052790-C-G c.1025C>G p.Pro342Arg Missense 8/10 - 1
20-43052798-C-G c.1033C>G p.Gln345Glu Missense 8/10 - 1
20-43052831-CA-AG c.1066_1067delinsAG p.Gln356Arg Missense 8/10 - 1
20-43052849-G-A c.1084G>A p.Gly362Ser Missense 8/10 - 1
20-43052864-G-A c.1099G>A p.Asp367Asn Missense 8/10 - 2
20-43052868-A-G c.1103A>G p.Asn368Ser Missense 8/10 - 1
20-43053588-A-G c.1129+694A>G - IntronicSNV - 8/9 3
20-43053588-A-T c.1129+694A>T - IntronicSNV - 8/9 3
20-43054871-A-G c.1129+1977A>G - IntronicSNV - 8/9 3
20-43056097-T-C c.1130-878T>C - IntronicSNV - 8/9 1
20-43056149-G-A c.1130-826G>A - IntronicSNV - 8/9 2
20-43056149-G-T c.1130-826G>T - IntronicSNV - 8/9 2
20-43056562-T-C c.1130-413T>C - IntronicSNV - 8/9 2
20-43056980-C-G c.1135C>G p.Pro379Ala Missense 9/10 - 1
20-43056981-C-A c.1136C>A p.Pro379His Missense 9/10 - 1
20-43056981-C-T c.1136C>T p.Pro379Leu Missense 9/10 - 1
20-43056992-C-T c.1147C>T p.Pro383Ser Missense 9/10 - 1
20-43056993-C-CTGGC c.1148_1149insTGGC p.His384Glyfs*37 Frameshift 9/10 - 1
20-43056993-C-T c.1148C>T p.Pro383Leu Missense 9/10 - 1
20-43057006-C-A c.1161C>A p.His387Gln Missense 9/10 - 1
20-43057010-C-G c.1165C>G p.Leu389Val Missense 9/10 - 1
20-43057011-T-A c.1166T>A p.Leu389Gln Missense 9/10 - 1
20-43057023-T-C c.1178T>C p.Leu393Pro Missense 9/10 - 1
20-43057038-T-C c.1193T>C p.Met398Thr Missense 9/10 - 2
20-43057055-G-A c.1210G>A p.Val404Ile Missense 9/10 - 1
20-43057067-A-G c.1222A>G p.Met408Val Missense 9/10 - 1
20-43057085-A-G c.1240A>G p.Asn414Asp Missense 9/10 - 1
20-43057088-G-A c.1243G>A p.Gly415Arg Missense 9/10 - 1
20-43057092-A-G c.1247A>G p.Gln416Arg Missense 9/10 - 1
20-43057095-T-C c.1250T>C p.Met417Thr Missense 9/10 - 1
20-43057107-CC-GA c.1262_1263delinsGA p.Pro421Arg Missense 9/10 - 1
20-43057107-C-G c.1262C>G p.Pro421Arg Missense 9/10 - 1
20-43057107-C-T c.1262C>T p.Pro421Leu Missense 9/10 - 2
20-43057109-C-G c.1264C>G p.Arg422Gly Missense 9/10 - 1
20-43057110-G-C c.1265G>C p.Arg422Pro Missense 9/10 - 1
20-43057112-C-T c.1267C>T p.Pro423Ser Missense 9/10 - 1
20-43057480-G-C c.1282+353G>C - IntronicSNV - 9/9 9
20-43057480-G-T c.1282+353G>T - IntronicSNV - 9/9 9
20-43057820-C-A c.1283-343C>A - IntronicSNV - 9/9 1
20-43058018-T-C c.1283-145T>C - IntronicSNV - 9/9 3
20-43058096-C-G c.1283-67C>G - IntronicSNV - 9/9 1
20-43058168-C-T c.1288C>T p.Pro430Ser Missense 10/10 - 1
20-43058169-C-T c.1289C>T p.Pro430Leu Missense 10/10 - 4
20-43058180-C-A c.1300C>A p.Gln434Lys Missense 10/10 - 1
20-43058202-C-A c.1322C>A p.Ser441* Nonsense 10/10 - 1
20-43058202-C-T c.1322C>T p.Ser441Leu Missense 10/10 - 1
20-43058213-C-T c.1333C>T p.Pro445Ser Missense 10/10 - 4
20-43058228-C-T c.1348C>T p.Pro450Ser Missense 10/10 - 62
20-43058229-C-T c.1349C>T p.Pro450Leu Missense 10/10 - 1
20-43058232-GA-AC c.1352_1353delinsAC p.Gly451Asp Missense 10/10 - 1
20-43058236-C-T c.1356C>T p.Ala452Ala Synonymous 10/10 - 1
20-43058240-G-A c.1360G>A p.Ala454Thr Missense 10/10 - 2
20-43058241-C-A c.1361C>A p.Ala454Asp Missense 10/10 - 1
20-43058241-CC-AG c.1361_1362delinsAG p.Ala454Glu Missense 10/10 - 1
20-43058249-G-C c.1369G>C p.Val457Leu Missense 10/10 - 1
20-43058253-A-G c.1373A>G p.Lys458Arg Missense 10/10 - 1
20-43058255-C-T c.1375C>T p.Pro459Ser Missense 10/10 - 1
20-43058267-A-G c.1387A>G p.Ile463Val Missense 10/10 - 3
20-43058276-C-T c.1396C>T p.Pro466Ser Missense 10/10 - 1
20-43058312-G-A c.*7G>A - 3-UTRSNV 10/10 - 1
20-43058472-T-A c.*167T>A - 3-UTRSNV 10/10 - 7
20-43058697-T-G c.*392T>G - 3-UTRSNV 10/10 - 6
20-43058962-G-A c.*657G>A - 3-UTRSNV 10/10 - 2
20-43058962-G-T c.*657G>T - 3-UTRSNV 10/10 - 2
20-43059437-C-T c.*1132C>T - 3-UTRSNV 10/10 - 3
20-43060280-G-A c.*1975G>A - 3-UTRSNV 10/10 - 1