PALM

PALM paralemmin

Annotation transcript: NM_002579.3

675 unique variant annotations were identified in 380 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-709913-G-T c.5+762G>T - IntronicSNV - 1/8 1
19-711234-C-G c.5+2083C>G - IntronicSNV - 1/8 1
19-714660-CT-C c.5+5517del - IntronicDeletion - 1/8 1
19-719644-C-A c.6-6494C>A - IntronicSNV - 1/8 1
19-719644-C-T c.6-6494C>T - IntronicSNV - 1/8 1
19-721909-A-T c.6-4229A>T - IntronicSNV - 1/8 1
19-724622-T-A c.6-1516T>A - IntronicSNV - 1/8 1
19-724622-T-C c.6-1516T>C - IntronicSNV - 1/8 1
19-725066-G-A c.6-1072G>A - IntronicSNV - 1/8 1
19-725939-C-G c.6-199C>G - IntronicSNV - 1/8 5
19-725939-C-T c.6-199C>T - IntronicSNV - 1/8 5
19-725985-G-A c.6-153G>A - IntronicSNV - 1/8 1
19-726098-G-A c.6-40G>A - IntronicSNV - 1/8 3
19-726098-G-C c.6-40G>C - IntronicSNV - 1/8 3
19-726098-G-T c.6-40G>T - IntronicSNV - 1/8 3
19-726138-G-A c.6G>A p.E2= Synonymous 2/9 - 2
19-726145-G-A c.13G>A p.A5T Missense 2/9 - 1
19-726146-C-T c.14C>T p.A5V Missense 2/9 - 3
19-726148-G-A c.16G>A p.A6T Missense 2/9 - 1
19-726149-C-T c.17C>T p.A6V Missense 2/9 - 1
19-726150-A-C c.18A>C p.A6= Synonymous 2/9 - 1
19-726150-A-G c.18A>G p.A6= Synonymous 2/9 - 1
19-726150-A-T c.18A>T p.A6= Synonymous 2/9 - 1
19-726152-A-G c.20A>G p.E7G Missense 2/9 - 1
19-726153-G-C c.21G>C p.E7D Missense 2/9 - 1
19-726153-G-T c.21G>T p.E7D Missense 2/9 - 1
19-726158-C-T c.26C>T p.T9M Missense 2/9 - 1
19-726159-G-A c.27G>A p.T9= Synonymous 2/9 - 2
19-726160-TC-AT c.28_29delinsAT p.S10I Missense 2/9 - 1
19-726160-TC-CA c.28_29delinsCA p.S10H Missense 2/9 - 2
19-726160-TCC-GAG c.28_30delinsGAG p.S10E Missense 2/9 - 2
19-726160-TC-GA c.28_29inv p.S10D Missense 2/9 - 8
19-726160-TC-GG c.28_29delinsGG p.S10G Missense 2/9 - 8
19-726160-T-G c.28T>G p.S10A Missense 2/9 - 19
19-726161-C-G c.29C>G p.S10C Missense 2/9 - 14
19-726161-C-T c.29C>T p.S10F Missense 2/9 - 5
19-726162-C-G c.30C>G p.S10= Synonymous 2/9 - 2
19-726166-CA-GC c.34_35delinsGC p.Q12A Missense 2/9 - 1
19-726166-CA-TG c.34_35inv p.Q12W Missense 2/9 - 3
19-726167-A-G c.35A>G p.Q12R Missense 2/9 - 1
19-726172-C-T c.40C>T p.R14W Missense 2/9 - 2
19-726173-G-A c.41G>A p.R14Q Missense 2/9 - 1
19-726175-CT-GA c.43_44delinsGA p.L15E Missense 2/9 - 1
19-726176-T-C c.44T>C p.L15P Missense 2/9 - 3
19-726176-T-G c.44T>G p.L15R Missense 2/9 - 1
19-726175-C-T c.43C>T p.L15= Synonymous 2/9 - 1
19-726177-G-A c.45G>A p.L15= Synonymous 2/9 - 1
19-726177-G-C c.45G>C p.L15= Synonymous 2/9 - 1
19-726177-G-T c.45G>T p.L15= Synonymous 2/9 - 1
19-726178-C-T c.46C>T p.Q16* Nonsense 2/9 - 1
19-726180-G-C c.48G>C p.Q16H Missense 2/9 - 1
19-726180-G-T c.48G>T p.Q16H Missense 2/9 - 1
19-726181-GCC-CAA c.49_51delinsCAA p.A17Q Missense 2/9 - 1
19-726182-C-T c.50C>T p.A17V Missense 2/9 - 1
19-726183-C-A c.51C>A p.A17= Synonymous 2/9 - 2
19-726183-C-G c.51C>G p.A17= Synonymous 2/9 - 1
19-726183-C-T c.51C>T p.A17= Synonymous 2/9 - 1
19-726186-C-T c.54C>T p.I18= Synonymous 2/9 - 1
19-726187-G-A c.55G>A p.A19T Missense 2/9 - 4
19-726187-GCA-TTT c.55_57delinsTTT p.A19F Missense 2/9 - 1
19-726187-G-T c.55G>T p.A19S Missense 2/9 - 2
19-726189-A-C c.57A>C p.A19= Synonymous 2/9 - 1
19-726189-A-G c.57A>G p.A19= Synonymous 2/9 - 1
19-726189-A-T c.57A>T p.A19= Synonymous 2/9 - 1
19-726202-C-T c.57+13C>T - IntronicSNV - 2/8 2
19-726910-G-A c.58-98G>A - IntronicSNV - 2/8 1
19-727009-A-C c.59A>C p.E20A Missense 3/9 - 1
19-727013-G-C c.63G>C p.K21N Missense 3/9 - 1
19-727015-G-A c.65G>A p.R22Q Missense 3/9 - 4
19-727021-G-A c.71G>A p.R24Q Missense 3/9 - 1
19-727021-G-T c.71G>T p.R24L Missense 3/9 - 1
19-727021-GGCA-G c.73_75del p.Q25del InFrameDeletion 3/9 - 1
19-727026-GCG-TGT c.76_78delinsTGT p.A26C Missense 3/9 - 1
19-727027-C-G c.77C>G p.A26G Missense 3/9 - 1
19-727027-C-T c.77C>T p.A26V Missense 3/9 - 1
19-727031-G-A c.81G>A p.E27= Synonymous 3/9 - 1
19-727034-C-T c.84C>T p.I28= Synonymous 3/9 - 1
19-727035-G-T c.85G>T p.E29* Nonsense 3/9 - 1
19-727037-G-A c.87G>A p.E29= Synonymous 3/9 - 2
19-727040-C-A c.90C>A p.N30K Missense 3/9 - 1
19-727040-C-G c.90C>G p.N30K Missense 3/9 - 1
19-727041-A-G c.91A>G p.K31E Missense 3/9 - 1
19-727045-G-A c.95G>A p.R32H Missense 3/9 - 1
19-727056-GAG-TTT c.106_108delinsTTT p.E36F Missense 3/9 - 1
19-727057-A-C c.107A>C p.E36A Missense 3/9 - 1
19-727059-G-T c.109G>T p.D37Y Missense 3/9 - 1
19-727062-G-A c.112G>A p.E38K Missense 3/9 - 2
19-727065-CG-AA c.115_116delinsAA p.R39K Missense 3/9 - 1
19-727065-CG-GC c.115_116delinsGC p.R39A Missense 3/9 - 1
19-727072-A-G c.122A>G p.Q41R Missense 3/9 - 1
19-727076-G-T c.126G>T p.L42= Synonymous 3/9 - 1
19-727077-C-T c.127C>T p.Q43* Nonsense 3/9 - 2
19-727081-A-T c.131A>T p.H44L Missense 3/9 - 1
19-727097-G-A c.138+9G>A - IntronicSNV - 3/8 1
19-727097-G-C c.138+9G>C - IntronicSNV - 3/8 1
19-727099-G-C c.138+11G>C - IntronicSNV - 3/8 1
19-727105-G-A c.138+17G>A - IntronicSNV - 3/8 4
19-727225-C-T c.138+137C>T - IntronicSNV - 3/8 1
19-727226-G-A c.138+138G>A - IntronicSNV - 3/8 2
19-727226-G-C c.138+138G>C - IntronicSNV - 3/8 1
19-727238-G-A c.138+150G>A - IntronicSNV - 3/8 1
19-727240-C-A c.138+152C>A - IntronicSNV - 3/8 1
19-727237-C-CGACCCT c.138+154_138+155insTGACCC - IntronicInsertion - 3/8 1
19-727243-C-T c.138+155C>T - IntronicSNV - 3/8 1
19-727231-TGACCCC-T c.138+161_138+166del - IntronicDeletion - 3/8 1
19-727249-C-T c.138+161C>T - IntronicSNV - 3/8 2
19-727255-T-C c.138+167T>C - IntronicSNV - 3/8 2
19-727262-A-C c.138+174A>C - IntronicSNV - 3/8 1
19-727262-A-G c.138+174A>G - IntronicSNV - 3/8 2
19-727262-CAACCT-C c.138+174_138+178del - IntronicDeletion - 3/8 2
19-727272-C-T c.138+184C>T - IntronicSNV - 3/8 1
19-727280-A-C c.138+192A>C - IntronicSNV - 3/8 1
19-727282-C-T c.138+194C>T - IntronicSNV - 3/8 1
19-727286-A-C c.138+198A>C - IntronicSNV - 3/8 1
19-727302-G-A c.138+214G>A - IntronicSNV - 3/8 1
19-727310-C-A c.138+222C>A - IntronicSNV - 3/8 4
19-727310-C-T c.138+222C>T - IntronicSNV - 3/8 4
19-727401-C-G c.139-163C>G - IntronicSNV - 3/8 2
19-727448-C-A c.139-116C>A - IntronicSNV - 3/8 2
19-727544-C-A c.139-20C>A - IntronicSNV - 3/8 5
19-727544-C-G c.139-20C>G - IntronicSNV - 3/8 5
19-727544-C-T c.139-20C>T - IntronicSNV - 3/8 5
19-727543-A-ACCTGGATC c.139-16_139-9dup - IntronicInsertion - 3/8 1
19-727550-T-C c.139-14T>C - IntronicSNV - 3/8 5
19-727552-C-CAT c.139-12_139-11insAT - IntronicInsertion - 3/8 1
19-727552-C-CGT c.139-12_139-11insGT - IntronicInsertion - 3/8 1
19-727552-C-CT c.139-12_139-11insT - IntronicInsertion - 3/8 1
19-727552-C-T c.139-12C>T - IntronicSNV - 3/8 4
19-727567-AA-GC c.142_143delinsGC p.K48A Missense 4/9 - 1
19-727568-A-G c.143A>G p.K48R Missense 4/9 - 1
19-727573-CTG-TTT c.148_150delinsTTT p.L50F Missense 4/9 - 1
19-727580-A-C c.155A>C p.E52A Missense 4/9 - 1
19-727581-G-C c.156G>C p.E52D Missense 4/9 - 1
19-727581-G-T c.156G>T p.E52D Missense 4/9 - 1
19-727582-C-T c.157C>T p.R53C Missense 4/9 - 1
19-727583-G-A c.158G>A p.R53H Missense 4/9 - 1
19-727590-G-A c.165G>A p.L55= Synonymous 4/9 - 1
19-727592-T-G c.167T>G p.L56R Missense 4/9 - 1
19-727599-G-A c.174G>A p.G58= Synonymous 4/9 - 2
19-727599-G-C c.174G>C p.G58= Synonymous 4/9 - 1
19-727599-G-T c.174G>T p.G58= Synonymous 4/9 - 1
19-727600-ACG-CAT c.175_177delinsCAT p.T59H Missense 4/9 - 1
19-727601-C-T c.176C>T p.T59M Missense 4/9 - 1
19-727602-G-A c.177G>A p.T59= Synonymous 4/9 - 1
19-727602-G-C c.177G>C p.T59= Synonymous 4/9 - 1
19-727602-G-T c.177G>T p.T59= Synonymous 4/9 - 1
19-727603-CCG-TGT c.178_180delinsTGT p.P60C Missense 4/9 - 1
19-727605-G-A c.180G>A p.P60= Synonymous 4/9 - 1
19-727610-C-T c.185C>T p.S62L Missense 4/9 - 1
19-727619-A-C c.194A>C p.E65A Missense 4/9 - 1
19-727622-G-A c.197G>A p.G66E Missense 4/9 - 1
19-727622-G-T c.197G>T p.G66V Missense 4/9 - 2
19-727623-G-GT c.198_199insT p.D67* Nonsense 4/9 - 1
19-727624-G-A c.199G>A p.D67N Missense 4/9 - 3
19-727627-G-A c.202G>A p.E68K Missense 4/9 - 1
19-727633-CTG-ATC c.208_210delinsATC p.L70I Missense 4/9 - 1
19-727637-G-A c.212G>A p.R71K Missense 4/9 - 1
19-727638-G-A c.213G>A p.R71= Synonymous 4/9 - 2
19-727639-AGG-TGT c.214_216delinsTGT p.R72C Missense 4/9 - 1
19-727642-C-T c.217C>T p.Q73* Nonsense 4/9 - 1
19-727648-C-A c.223C>A p.Q75K Missense 4/9 - 1
19-727657-G-A c.232G>A p.E78K Missense 4/9 - 1
19-727665-G-A c.240G>A p.K80= Synonymous 4/9 - 1
19-727667-C-CGGCAT c.242_243insGGCAT p.R82Afs*56 Frameshift 4/9 - 1
19-727672-C-G c.247C>G p.L83V Missense 4/9 - 1
19-727675-CTG-TTT c.250_252delinsTTT p.L84F Missense 4/9 - 1
19-727679-A-G c.254A>G p.E85G Missense 4/9 - 1
19-727680-G-T c.255G>T p.E85D Missense 4/9 - 1
19-727681-GAC-AAG c.256_258delinsAAG p.D86K Missense 4/9 - 1
19-727682-A-C c.257A>C p.D86A Missense 4/9 - 1
19-727683-C-A c.258C>A p.D86E Missense 4/9 - 2
19-727683-C-G c.258C>G p.D86E Missense 4/9 - 2
19-727684-T-C c.259T>C p.S87P Missense 4/9 - 1
19-727687-G-A c.262G>A p.V88M Missense 4/9 - 1
19-727689-G-A c.264G>A p.V88= Synonymous 4/9 - 1
19-727689-G-C c.264G>C p.V88= Synonymous 4/9 - 1
19-727689-G-T c.264G>T p.V88= Synonymous 4/9 - 1
19-727694-GGTGGGGGCTGCAGC-G c.269+6_269+19del - IntronicDeletion - 4/8 1
19-727754-C-T c.269+60C>T - IntronicSNV - 4/8 1
19-727997-C-G c.269+303C>G - IntronicSNV - 4/8 1
19-731055-G-C c.270-40G>C - IntronicSNV - 4/8 6
19-731055-G-T c.270-40G>T - IntronicSNV - 4/8 6
19-731077-G-C c.270-18G>C - IntronicSNV - 4/8 5
19-731078-G-T c.270-17G>T - IntronicSNV - 4/8 5
19-731101-G-A c.276G>A p.E92= Synonymous 5/9 - 1
19-731105-GAA-TTT c.280_282delinsTTT p.E94F Missense 5/9 - 1
19-731111-GAG-TGT c.286_288delinsTGT p.E96C Missense 5/9 - 1
19-731111-TG-T c.286del p.E96Rfs*40 Frameshift 5/9 - 1
19-731113-G-A c.288G>A p.E96= Synonymous 5/9 - 1
19-731114-G-C c.289G>C p.V97L Missense 5/9 - 3
19-731114-G-T c.289G>T p.V97L Missense 5/9 - 3
19-731124-G-A c.299G>A p.R100H Missense 5/9 - 3
19-731124-GT-AA c.299_300delinsAA p.R100Q Missense 5/9 - 1
19-731130-A-C c.305A>C p.D102A Missense 5/9 - 1
19-731131-C-T c.306C>T p.D102= Synonymous 5/9 - 2
19-731132-T-C c.307T>C p.S103P Missense 5/9 - 1
19-731133-C-T c.308C>T p.S103F Missense 5/9 - 2
19-731134-C-T c.309C>T p.S103= Synonymous 5/9 - 1
19-731135-G-A c.310G>A p.A104T Missense 5/9 - 1
19-731135-G-T c.310G>T p.A104S Missense 5/9 - 1
19-731141-GC-TG c.316_317delinsTG p.A106C Missense 5/9 - 1
19-731142-C-T c.317C>T p.A106V Missense 5/9 - 1
19-731144-A-G c.319A>G p.T107A Missense 5/9 - 28
19-731146-T-A c.321T>A p.T107= Synonymous 5/9 - 1
19-731146-T-C c.321T>C p.T107= Synonymous 5/9 - 1
19-731146-T-G c.321T>G p.T107= Synonymous 5/9 - 1
19-731147-G-C c.322G>C p.A108P Missense 5/9 - 1
19-731156-AAC-CAA c.331_333delinsCAA p.N111Q Missense 5/9 - 1
19-731160-C-T c.335C>T p.A112V Missense 5/9 - 3
19-731161-G-A c.336G>A p.A112= Synonymous 5/9 - 3
19-731167-C-A c.342C>A p.A114= Synonymous 5/9 - 1
19-731167-C-G c.342C>G p.A114= Synonymous 5/9 - 1
19-731167-C-T c.342C>T p.A114= Synonymous 5/9 - 1
19-731168-C-A c.343C>A p.P115T Missense 5/9 - 1
19-731173-C-T c.348C>T p.S116= Synonymous 5/9 - 1
19-731176-A-C c.351A>C p.P117= Synonymous 5/9 - 1
19-731176-A-G c.351A>G p.P117= Synonymous 5/9 - 3
19-731176-A-T c.351A>T p.P117= Synonymous 5/9 - 1
19-731177-G-T c.352G>T p.V118F Missense 5/9 - 1
19-731179-C-T c.354C>T p.V118= Synonymous 5/9 - 1
19-731180-C-T c.355C>T p.R119W Missense 5/9 - 1
19-731183-G-A c.358G>A p.A120T Missense 5/9 - 1
19-731193-C-G c.368C>G p.P123R Missense 5/9 - 1
19-731196-G-T c.371G>T p.S124I Missense 5/9 - 1
19-731197-T-C c.372T>C p.S124= Synonymous 5/9 - 1
19-731198-C-T c.373C>T p.P125S Missense 5/9 - 1
19-731207-G-A c.382G>A p.E128K Missense 5/9 - 1
19-731211-A-G c.386A>G p.E129G Missense 5/9 - 1
19-731213-CGC-GAG c.388_390delinsGAG p.R130E Missense 5/9 - 1
19-731213-C-T c.388C>T p.R130C Missense 5/9 - 1
19-731219-A-T c.394A>T p.T132S Missense 5/9 - 1
19-731224-G-A c.399G>A p.E133= Synonymous 5/9 - 1
19-731228-G-A c.403G>A p.V135M Missense 5/9 - 1
19-731238-C-T c.413C>T p.S138L Missense 5/9 - 2
19-731239-A-C c.414A>C p.S138= Synonymous 5/9 - 1
19-731239-A-G c.414A>G p.S138= Synonymous 5/9 - 1
19-731239-A-T c.414A>T p.S138= Synonymous 5/9 - 1
19-731240-C-A c.415C>A p.Q139K Missense 5/9 - 1
19-731243-C-G c.418C>G p.Q140E Missense 5/9 - 1
19-731265-G-T c.420+20G>T - IntronicSNV - 5/8 1
19-731384-G-A c.420+139G>A - IntronicSNV - 5/8 3
19-731386-A-G c.420+141A>G - IntronicSNV - 5/8 1
19-731484-G-A c.420+239G>A - IntronicSNV - 5/8 1
19-731533-A-G c.420+288A>G - IntronicSNV - 5/8 1
19-731542-G-A c.420+297G>A - IntronicSNV - 5/8 1
19-731613-G-A c.420+368G>A - IntronicSNV - 5/8 1
19-731622-G-T c.420+377G>T - IntronicSNV - 5/8 1
19-733674-G-A c.421-499G>A - IntronicSNV - 5/8 1
19-734077-C-G c.421-96C>G - IntronicSNV - 5/8 3
19-734173-AC-TA c.421_422delinsTA p.T141* Nonsense 6/9 - 1
19-734174-CG-TC c.422_423delinsTC p.T141I Missense 6/9 - 1
19-734175-G-A c.423G>A p.T141= Synonymous 6/9 - 1
19-734175-G-C c.423G>C p.T141= Synonymous 6/9 - 1
19-734175-G-T c.423G>T p.T141= Synonymous 6/9 - 1
19-734176-C-A c.424C>A p.P142T Missense 6/9 - 1
19-734182-G-T c.430G>T p.G144C Missense 6/9 - 2
19-734187-G-A c.435G>A p.T145= Synonymous 6/9 - 3
19-734187-G-C c.435G>C p.T145= Synonymous 6/9 - 1
19-734187-G-T c.435G>T p.T145= Synonymous 6/9 - 1
19-734190-C-T c.438C>T p.P146= Synonymous 6/9 - 1
19-734195-G-A c.442+1G>A - IntronicSNV - 6/8 1
19-734199-G-C c.442+5G>C - IntronicSNV - 6/8 1
19-734224-C-T c.442+30C>T - IntronicSNV - 6/8 1
19-734266-G-A c.442+72G>A - IntronicSNV - 6/8 1
19-734371-C-T c.442+177C>T - IntronicSNV - 6/8 1
19-734714-A-G c.442+520A>G - IntronicSNV - 6/8 1
19-734851-C-T c.442+657C>T - IntronicSNV - 6/8 1
19-735111-G-A c.443-908G>A - IntronicSNV - 6/8 1
19-735111-G-T c.443-908G>T - IntronicSNV - 6/8 1
19-735219-G-C c.443-800G>C - IntronicSNV - 6/8 1
19-735388-A-G c.443-631A>G - IntronicSNV - 6/8 1
19-735426-A-G c.443-593A>G - IntronicSNV - 6/8 2
19-735426-A-T c.443-593A>T - IntronicSNV - 6/8 2
19-735465-A-G c.443-554A>G - IntronicSNV - 6/8 2
19-735723-T-C c.443-296T>C - IntronicSNV - 6/8 1
19-735966-T-C c.443-53T>C - IntronicSNV - 6/8 1
19-736020-C-A c.444C>A p.D148E Missense 7/9 - 1
19-736020-C-G c.444C>G p.D148E Missense 7/9 - 1
19-736021-A-C c.445A>C p.K149Q Missense 7/9 - 1
19-736021-A-G c.445A>G p.K149E Missense 7/9 - 1
19-736022-A-C c.446A>C p.K149T Missense 7/9 - 1
19-736023-G-C c.447G>C p.K149N Missense 7/9 - 1
19-736023-G-T c.447G>T p.K149N Missense 7/9 - 1
19-736024-CGA-ATG c.448_450delinsATG p.R150M Missense 7/9 - 1
19-736024-C-T c.448C>T p.R150* Nonsense 7/9 - 1
19-736024-GC-G c.448del p.R150Efs*7 Frameshift 7/9 - 1
19-736025-G-A c.449G>A p.R150Q Missense 7/9 - 2
19-736027-G-C c.451G>C p.V151L Missense 7/9 - 1
19-736028-T-C c.452T>C p.V151A Missense 7/9 - 1
19-736029-C-A c.453C>A p.V151= Synonymous 7/9 - 1
19-736029-C-G c.453C>G p.V151= Synonymous 7/9 - 1
19-736029-C-T c.453C>T p.V151= Synonymous 7/9 - 1
19-736030-TC-GG c.454_455delinsGG p.S152G Missense 7/9 - 1
19-736032-C-A c.456C>A p.S152= Synonymous 7/9 - 1
19-736032-C-G c.456C>G p.S152= Synonymous 7/9 - 1
19-736032-C-T c.456C>T p.S152= Synonymous 7/9 - 1
19-736033-A-C c.457A>C p.N153H Missense 7/9 - 1
19-736035-C-A c.459C>A p.N153K Missense 7/9 - 1
19-736037-C-T c.461C>T p.T154M Missense 7/9 - 3
19-736038-G-A c.462G>A p.T154= Synonymous 7/9 - 1
19-736038-G-C c.462G>C p.T154= Synonymous 7/9 - 1
19-736038-G-T c.462G>T p.T154= Synonymous 7/9 - 1
19-736043-T-C c.467T>C p.L156P Missense 7/9 - 2
19-736044-G-A c.468G>A p.L156= Synonymous 7/9 - 3
19-736048-ACG-CAT c.472_474delinsCAT p.T158H Missense 7/9 - 1
19-736048-A-G c.472A>G p.T158A Missense 7/9 - 4
19-736049-C-G c.473C>G p.T158R Missense 7/9 - 2
19-736049-C-T c.473C>T p.T158M Missense 7/9 - 2
19-736050-G-A c.474G>A p.T158= Synonymous 7/9 - 1
19-736050-G-C c.474G>C p.T158= Synonymous 7/9 - 1
19-736050-G-T c.474G>T p.T158= Synonymous 7/9 - 1
19-736054-G-T c.478G>T p.D160Y Missense 7/9 - 1
19-736056-C-T c.480C>T p.D160= Synonymous 7/9 - 1
19-736057-G-A c.481G>A p.G161S Missense 7/9 - 2
19-736058-G-A c.482G>A p.G161D Missense 7/9 - 1
19-736062-C-A c.486C>A p.S162= Synonymous 7/9 - 1
19-736062-C-G c.486C>G p.S162= Synonymous 7/9 - 1
19-736062-C-T c.486C>T p.S162= Synonymous 7/9 - 1
19-736065-C-A c.489C>A p.P163= Synonymous 7/9 - 1
19-736065-C-G c.489C>G p.P163= Synonymous 7/9 - 1
19-736065-C-T c.489C>T p.P163= Synonymous 7/9 - 2
19-736066-AT-GC c.490_491delinsGC p.M164A Missense 7/9 - 1
19-736066-ATG-GAC c.490_492delinsGAC p.M164D Missense 7/9 - 1
19-736066-AT-TA c.490_491delinsTA p.M164* Nonsense 7/9 - 3
19-736073-A-G c.497A>G p.K166R Missense 7/9 - 1
19-736116-C-T c.502+38C>T - IntronicSNV - 7/8 1
19-736241-G-A c.502+163G>A - IntronicSNV - 7/8 1
19-740198-G-A c.503-154G>A - IntronicSNV - 7/8 1
19-740272-C-A c.503-80C>A - IntronicSNV - 7/8 4
19-740272-C-G c.503-80C>G - IntronicSNV - 7/8 4
19-740272-C-T c.503-80C>T - IntronicSNV - 7/8 4
19-740275-C-A c.503-77C>A - IntronicSNV - 7/8 1
19-740312-G-A c.503-40G>A - IntronicSNV - 7/8 2
19-740312-G-C c.503-40G>C - IntronicSNV - 7/8 2
19-740312-G-T c.503-40G>T - IntronicSNV - 7/8 2
19-740356-G-A c.507G>A p.M169I Missense 8/9 - 2
19-740356-G-C c.507G>C p.M169I Missense 8/9 - 2
19-740356-G-T c.507G>T p.M169I Missense 8/9 - 2
19-740358-A-G c.509A>G p.Y170C Missense 8/9 - 1
19-740360-T-A c.511T>A p.S171T Missense 8/9 - 1
19-740362-G-A c.513G>A p.S171= Synonymous 8/9 - 2
19-740362-G-C c.513G>C p.S171= Synonymous 8/9 - 1
19-740362-G-T c.513G>T p.S171= Synonymous 8/9 - 1
19-740364-T-C c.515T>C p.V172A Missense 8/9 - 1
19-740365-T-A c.516T>A p.V172= Synonymous 8/9 - 1
19-740365-T-C c.516T>C p.V172= Synonymous 8/9 - 1
19-740365-T-G c.516T>G p.V172= Synonymous 8/9 - 1
19-740367-A-C c.518A>C p.E173A Missense 8/9 - 1
19-740372-AC-CA c.523_524delinsCA p.T175H Missense 8/9 - 1
19-740374-T-A c.525T>A p.T175= Synonymous 8/9 - 1
19-740374-T-C c.525T>C p.T175= Synonymous 8/9 - 1
19-740374-T-G c.525T>G p.T175= Synonymous 8/9 - 1
19-740375-G-A c.526G>A p.V176M Missense 8/9 - 1
19-740375-GTG-ATC c.526_528delinsATC p.V176I Missense 8/9 - 1
19-740378-G-A c.529G>A p.E177K Missense 8/9 - 4
19-740381-A-G c.532A>G p.K178E Missense 8/9 - 1
19-740385-A-C c.536A>C p.D179A Missense 8/9 - 1
19-740389-G-C c.540G>C p.K180N Missense 8/9 - 2
19-740389-G-T c.540G>T p.K180N Missense 8/9 - 2
19-740390-G-A c.541G>A p.V181M Missense 8/9 - 1
19-740394-C-T c.545C>T p.T182I Missense 8/9 - 1
19-740396-G-A c.547G>A p.G183R Missense 8/9 - 2
19-740404-C-T c.555C>T p.T185= Synonymous 8/9 - 1
19-740406-G-A c.557G>A p.R186K Missense 8/9 - 1
19-740413-G-A c.564G>A p.L188= Synonymous 8/9 - 1
19-740416-C-T c.567C>T p.S189= Synonymous 8/9 - 1
19-740424-C-T c.575C>T p.T192M Missense 8/9 - 1
19-740432-C-T c.583C>T p.P195S Missense 8/9 - 4
19-740433-C-T c.584C>T p.P195L Missense 8/9 - 2
19-740436-G-A c.587G>A p.R196Q Missense 8/9 - 3
19-740441-C-T c.592C>T p.P198S Missense 8/9 - 3
19-740442-C-G c.593C>G p.P198R Missense 8/9 - 1
19-740442-CG-AT c.593_594delinsAT p.P198H Missense 8/9 - 1
19-740442-C-T c.593C>T p.P198L Missense 8/9 - 1
19-740451-T-C c.602T>C p.L201P Missense 8/9 - 1
19-740454-G-A c.605G>A p.G202D Missense 8/9 - 1
19-740456-AT-TA c.607_608delinsTA p.I203Y Missense 8/9 - 1
19-740457-TC-GG c.608_609delinsGG p.I203R Missense 8/9 - 2
19-740462-G-C c.613G>C p.V205L Missense 8/9 - 1
19-740464-C-A c.615C>A p.V205= Synonymous 8/9 - 2
19-740464-C-G c.615C>G p.V205= Synonymous 8/9 - 2
19-740464-C-T c.615C>T p.V205= Synonymous 8/9 - 2
19-740467-C-A c.618C>A p.Y206* Nonsense 8/9 - 2
19-740468-G-A c.619G>A p.E207K Missense 8/9 - 2
19-740476-G-T c.627G>T p.E209D Missense 8/9 - 1
19-740560-T-C c.634+77T>C - IntronicSNV - 8/8 7
19-740582-GA-G c.634+99del - IntronicDeletion - 8/8 1
19-740592-G-A c.634+109G>A - IntronicSNV - 8/8 1
19-740592-G-T c.634+109G>T - IntronicSNV - 8/8 1
19-743362-G-A c.634+2879G>A - IntronicSNV - 8/8 1
19-744880-G-A c.635-1405G>A - IntronicSNV - 8/8 1
19-744880-G-C c.635-1405G>C - IntronicSNV - 8/8 1
19-744880-G-T c.635-1405G>T - IntronicSNV - 8/8 1
19-746206-C-T c.635-79C>T - IntronicSNV - 8/8 5
19-746289-C-T c.639C>T p.V213= Synonymous 9/9 - 3
19-746288-T-TC c.640dup p.H214Pfs*98 Frameshift 9/9 - 2
19-746290-C-T c.640C>T p.H214Y Missense 9/9 - 4
19-746294-C-G c.644C>G p.A215G Missense 9/9 - 1
19-746298-G-A c.648G>A p.V216= Synonymous 9/9 - 1
19-746298-G-C c.648G>C p.V216= Synonymous 9/9 - 1
19-746298-G-T c.648G>T p.V216= Synonymous 9/9 - 1
19-746301-C-T c.651C>T p.D217= Synonymous 9/9 - 2
19-746302-G-C c.652G>C p.G218R Missense 9/9 - 3
19-746303-G-T c.653G>T p.G218V Missense 9/9 - 1
19-746307-C-A c.657C>A p.T219= Synonymous 9/9 - 1
19-746307-C-T c.657C>T p.T219= Synonymous 9/9 - 2
19-746308-G-A c.658G>A p.A220T Missense 9/9 - 1
19-746310-C-A c.660C>A p.A220= Synonymous 9/9 - 2
19-746310-C-G c.660C>G p.A220= Synonymous 9/9 - 2
19-746310-C-T c.660C>T p.A220= Synonymous 9/9 - 4
19-746311-G-A c.661G>A p.E221K Missense 9/9 - 2
19-746311-G-C c.661G>C p.E221Q Missense 9/9 - 1
19-746315-A-G c.665A>G p.N222S Missense 9/9 - 1
19-746317-G-A c.667G>A p.G223R Missense 9/9 - 2
19-746317-G-C c.667G>C p.G223R Missense 9/9 - 1
19-746317-GG-AA c.667_668delinsAA p.G223K Missense 9/9 - 1
19-746318-G-A c.668G>A p.G223E Missense 9/9 - 1
19-746328-C-G c.678C>G p.P226= Synonymous 9/9 - 1
19-746328-C-T c.678C>T p.P226= Synonymous 9/9 - 1
19-746329-C-T c.679C>T p.L227= Synonymous 9/9 - 1
19-746332-A-T c.682A>T p.S228C Missense 9/9 - 1
19-746333-G-A c.683G>A p.S228N Missense 9/9 - 1
19-746332-A-C c.682A>C p.S228R Missense 9/9 - 1
19-746334-C-A c.684C>A p.S228R Missense 9/9 - 1
19-746334-C-G c.684C>G p.S228R Missense 9/9 - 1
19-746335-T-C c.685T>C p.S229P Missense 9/9 - 1
19-746337-C-T c.687C>T p.S229= Synonymous 9/9 - 2
19-746341-G-T c.691G>T p.E231* Nonsense 9/9 - 1
19-746346-G-A c.696G>A p.V232= Synonymous 9/9 - 1
19-746348-A-G c.698A>G p.D233G Missense 9/9 - 1
19-746350-G-A c.700G>A p.E234K Missense 9/9 - 4
19-746350-G-C c.700G>C p.E234Q Missense 9/9 - 1
19-746353-CT-GC c.703_704delinsGC p.L235A Missense 9/9 - 2
19-746358-C-T c.708C>T p.I236= Synonymous 9/9 - 2
19-746359-C-A c.709C>A p.H237N Missense 9/9 - 1
19-746365-G-A c.715G>A p.A239T Missense 9/9 - 2
19-746366-C-A c.716C>A p.A239E Missense 9/9 - 4
19-746366-C-T c.716C>T p.A239V Missense 9/9 - 3
19-746370-C-A c.720C>A p.D240E Missense 9/9 - 1
19-746370-C-G c.720C>G p.D240E Missense 9/9 - 1
19-746370-C-T c.720C>T p.D240= Synonymous 9/9 - 1
19-746371-G-A c.721G>A p.E241K Missense 9/9 - 1
19-746375-T-C c.725T>C p.V242A Missense 9/9 - 1
19-746378-C-G c.728C>G p.T243R Missense 9/9 - 1
19-746379-G-T c.729G>T p.T243= Synonymous 9/9 - 1
19-746389-G-T c.739G>T p.A247S Missense 9/9 - 1
19-746400-G-A c.750G>A p.T250= Synonymous 9/9 - 5
19-746400-G-C c.750G>C p.T250= Synonymous 9/9 - 2
19-746400-G-T c.750G>T p.T250= Synonymous 9/9 - 2
19-746404-G-A c.754G>A p.G252R Missense 9/9 - 1
19-746406-G-T c.756G>T p.G252= Synonymous 9/9 - 1
19-746408-C-T c.758C>T p.A253V Missense 9/9 - 3
19-746409-G-A c.759G>A p.A253= Synonymous 9/9 - 4
19-746410-G-A c.760G>A p.A254T Missense 9/9 - 1
19-746411-C-A c.761C>A p.A254E Missense 9/9 - 2
19-746414-A-G c.764A>G p.E255G Missense 9/9 - 2
19-746416-ACC-GAG c.766_768delinsGAG p.T256E Missense 9/9 - 1
19-746418-C-A c.768C>A p.T256= Synonymous 9/9 - 1
19-746418-C-G c.768C>G p.T256= Synonymous 9/9 - 1
19-746418-C-T c.768C>T p.T256= Synonymous 9/9 - 4
19-746420-G-T c.770G>T p.R257L Missense 9/9 - 2
19-746423-G-A c.773G>A p.G258E Missense 9/9 - 1
19-746424-G-A c.774G>A p.G258= Synonymous 9/9 - 2
19-746419-C-CG c.775dup p.A259Gfs*53 Frameshift 9/9 - 2
19-746419-CG-C c.775del p.A259Lfs*42 Frameshift 9/9 - 1
19-746426-C-G c.776C>G p.A259G Missense 9/9 - 1
19-746430-G-A c.780G>A p.V260= Synonymous 9/9 - 1
19-746430-G-C c.780G>C p.V260= Synonymous 9/9 - 1
19-746430-G-T c.780G>T p.V260= Synonymous 9/9 - 1
19-746431-G-A c.781G>A p.E261K Missense 9/9 - 1
19-746432-A-C c.782A>C p.E261A Missense 9/9 - 3
19-746433-G-C c.783G>C p.E261D Missense 9/9 - 2
19-746433-G-T c.783G>T p.E261D Missense 9/9 - 2
19-746434-GG-AA c.784_785delinsAA p.G262K Missense 9/9 - 1
19-746438-C-G c.788C>G p.A263G Missense 9/9 - 1
19-746441-C-T c.791C>T p.A264V Missense 9/9 - 1
19-746443-C-A c.793C>A p.R265= Synonymous 9/9 - 1
19-746443-C-G c.793C>G p.R265G Missense 9/9 - 2
19-746443-C-T c.793C>T p.R265W Missense 9/9 - 2
19-746445-G-A c.795G>A p.R265= Synonymous 9/9 - 1
19-746445-G-C c.795G>C p.R265= Synonymous 9/9 - 1
19-746445-G-T c.795G>T p.R265= Synonymous 9/9 - 1
19-746448-C-T c.798C>T p.T266= Synonymous 9/9 - 1
19-746449-A-C c.799A>C p.T267P Missense 9/9 - 1
19-746450-C-T c.800C>T p.T267M Missense 9/9 - 1
19-746451-G-A c.801G>A p.T267= Synonymous 9/9 - 1
19-746456-C-T c.806C>T p.S269F Missense 9/9 - 3
19-746457-CC-TT c.807_808delinsTT p.R270W Missense 9/9 - 1
19-746458-C-T c.808C>T p.R270W Missense 9/9 - 2
19-746459-G-A c.809G>A p.R270Q Missense 9/9 - 1
19-746472-C-T c.822C>T p.T274= Synonymous 9/9 - 2
19-746482-G-A c.832G>A p.A278T Missense 9/9 - 1
19-746493-C-A c.843C>A p.G281= Synonymous 9/9 - 1
19-746493-C-G c.843C>G p.G281= Synonymous 9/9 - 1
19-746493-C-T c.843C>T p.G281= Synonymous 9/9 - 2
19-746494-G-A c.844G>A p.E282K Missense 9/9 - 1
19-746498-C-T c.848C>T p.A283V Missense 9/9 - 1
19-746504-C-T c.854C>T p.S285F Missense 9/9 - 1
19-746505-C-A c.855C>A p.S285= Synonymous 9/9 - 1
19-746505-C-G c.855C>G p.S285= Synonymous 9/9 - 1
19-746505-C-T c.855C>T p.S285= Synonymous 9/9 - 3
19-746506-G-A c.856G>A p.G286S Missense 9/9 - 1
19-746508-C-A c.858C>A p.G286= Synonymous 9/9 - 1
19-746510-C-G c.860C>G p.P287R Missense 9/9 - 1
19-746513-C-A c.863C>A p.P288Q Missense 9/9 - 2
19-746524-C-A c.874C>A p.P292T Missense 9/9 - 1
19-746525-C-T c.875C>T p.P292L Missense 9/9 - 2
19-746527-G-A c.877G>A p.G293S Missense 9/9 - 4
19-746527-G-T c.877G>T p.G293C Missense 9/9 - 1
19-746532-G-A c.882G>A p.Q294= Synonymous 9/9 - 1
19-746532-G-GA c.882_883insA p.E295Rfs*17 Frameshift 9/9 - 1
19-746533-G-C c.883G>C p.E295Q Missense 9/9 - 1
19-746537-C-A c.887C>A p.P296H Missense 9/9 - 2
19-746537-C-T c.887C>T p.P296L Missense 9/9 - 2
19-746538-C-T c.888C>T p.P296= Synonymous 9/9 - 2
19-746539-C-T c.889C>T p.P297S Missense 9/9 - 2
19-746535-G-GC c.890dup p.V298Gfs*14 Frameshift 9/9 - 1
19-746540-C-T c.890C>T p.P297L Missense 9/9 - 1
19-746541-G-A c.891G>A p.P297= Synonymous 9/9 - 1
19-746541-G-C c.891G>C p.P297= Synonymous 9/9 - 1
19-746541-G-T c.891G>T p.P297= Synonymous 9/9 - 1
19-746542-G-C c.892G>C p.V298L Missense 9/9 - 1
19-746543-T-G c.893T>G p.V298G Missense 9/9 - 1
19-746553-C-T c.903C>T p.I301= Synonymous 9/9 - 1
19-746557-A-G c.907A>G p.M303V Missense 9/9 - 2
19-746564-A-G c.914A>G p.Y305C Missense 9/9 - 2
19-746575-G-C c.925G>C p.E309Q Missense 9/9 - 1
19-746578-G-A c.928G>A p.D310N Missense 9/9 - 3
19-746578-GA-AG c.928_929delinsAG p.D310S Missense 9/9 - 1
19-746583-G-C c.933G>C p.E311D Missense 9/9 - 1
19-746583-G-T c.933G>T p.E311D Missense 9/9 - 1
19-746584-G-T c.934G>T p.A312S Missense 9/9 - 1
19-746585-C-T c.935C>T p.A312V Missense 9/9 - 1
19-746586-C-A c.936C>A p.A312= Synonymous 9/9 - 2
19-746586-C-T c.936C>T p.A312= Synonymous 9/9 - 1
19-746587-G-A c.937G>A p.E313K Missense 9/9 - 2
19-746589-G-A c.939G>A p.E313= Synonymous 9/9 - 1
19-746589-G-C c.939G>C p.E313D Missense 9/9 - 1
19-746591-C-T c.941C>T p.T314I Missense 9/9 - 2
19-746593-A-G c.943A>G p.K315E Missense 9/9 - 1
19-746608-C-T c.958C>T p.L320F Missense 9/9 - 2
19-746622-C-A c.972C>A p.I324= Synonymous 9/9 - 1
19-746622-C-T c.972C>T p.I324= Synonymous 9/9 - 1
19-746624-C-T c.974C>T p.T325M Missense 9/9 - 2
19-746627-C-G c.977C>G p.A326G Missense 9/9 - 1
19-746627-C-T c.977C>T p.A326V Missense 9/9 - 5
19-746628-G-A c.978G>A p.A326= Synonymous 9/9 - 2
19-746629-G-C c.979G>C p.E327Q Missense 9/9 - 2
19-746632-C-G c.982C>G p.L328V Missense 9/9 - 1
19-746632-C-T c.982C>T p.L328= Synonymous 9/9 - 1
19-746643-C-A c.993C>A p.I331= Synonymous 9/9 - 1
19-746643-C-T c.993C>T p.I331= Synonymous 9/9 - 2
19-746647-G-C c.997G>C p.D333H Missense 9/9 - 1
19-746652-G-A c.1002G>A p.A334= Synonymous 9/9 - 1
19-746653-G-A c.1003G>A p.A335T Missense 9/9 - 6
19-746654-C-G c.1004C>G p.A335G Missense 9/9 - 1
19-746655-T-G c.1005T>G p.A335= Synonymous 9/9 - 1
19-746656-G-T c.1006G>T p.E336* Nonsense 9/9 - 1
19-746663-A-G c.1013A>G p.K338R Missense 9/9 - 1
19-746667-G-A c.1017G>A p.E339= Synonymous 9/9 - 1
19-746668-C-A c.1018C>A p.P340T Missense 9/9 - 1
19-746672-C-T c.1022C>T p.A341V Missense 9/9 - 1
19-746674-C-G c.1024C>G p.P342A Missense 9/9 - 1
19-746674-C-T c.1024C>T p.P342S Missense 9/9 - 2
19-746675-C-A c.1025C>A p.P342Q Missense 9/9 - 1
19-746675-C-T c.1025C>T p.P342L Missense 9/9 - 1
19-746677-C-G c.1027C>G p.P343A Missense 9/9 - 1
19-746678-C-T c.1028C>T p.P343L Missense 9/9 - 3
19-746679-C-A c.1029C>A p.P343= Synonymous 9/9 - 2
19-746679-C-G c.1029C>G p.P343= Synonymous 9/9 - 2
19-746679-C-T c.1029C>T p.P343= Synonymous 9/9 - 2
19-746680-A-G c.1030A>G p.N344D Missense 9/9 - 1
19-746682-C-T c.1032C>T p.N344= Synonymous 9/9 - 1
19-746683-G-A c.1033G>A p.G345S Missense 9/9 - 1
19-746684-G-T c.1034G>T p.G345V Missense 9/9 - 1
19-746686-A-G c.1036A>G p.S346G Missense 9/9 - 1
19-746686-AG-GC c.1036_1037delinsGC p.S346A Missense 9/9 - 1
19-746686-AGT-GAG c.1036_1038delinsGAG p.S346E Missense 9/9 - 1
19-746687-G-A c.1037G>A p.S346N Missense 9/9 - 2
19-746692-G-A c.1042G>A p.A348T Missense 9/9 - 1
19-746692-G-C c.1042G>C p.A348P Missense 9/9 - 1
19-746692-G-T c.1042G>T p.A348S Missense 9/9 - 1
19-746694-C-T c.1044C>T p.A348= Synonymous 9/9 - 1
19-746695-G-A c.1045G>A p.E349K Missense 9/9 - 1
19-746696-A-T c.1046A>T p.E349V Missense 9/9 - 2
19-746698-C-T c.1048C>T p.P350S Missense 9/9 - 1
19-746702-C-T c.1052C>T p.P351L Missense 9/9 - 1
19-746703-C-A c.1053C>A p.P351= Synonymous 9/9 - 1
19-746703-C-T c.1053C>T p.P351= Synonymous 9/9 - 2
19-746705-C-T c.1055C>T p.T352M Missense 9/9 - 3
19-746706-G-A c.1056G>A p.T352= Synonymous 9/9 - 1
19-746706-G-T c.1056G>T p.T352= Synonymous 9/9 - 1
19-746709-G-A c.1059G>A p.E353= Synonymous 9/9 - 1
19-746709-G-C c.1059G>C p.E353D Missense 9/9 - 1
19-746710-G-A c.1060G>A p.A354T Missense 9/9 - 1
19-746710-G-T c.1060G>T p.A354S Missense 9/9 - 1
19-746711-C-G c.1061C>G p.A354G Missense 9/9 - 1
19-746711-C-T c.1061C>T p.A354V Missense 9/9 - 1
19-746712-C-T c.1062C>T p.A354= Synonymous 9/9 - 9
19-746713-G-A c.1063G>A p.A355T Missense 9/9 - 1
19-746714-C-T c.1064C>T p.A355V Missense 9/9 - 1
19-746715-C-T c.1065C>T p.A355= Synonymous 9/9 - 1
19-746716-TCC-GAG c.1066_1068delinsGAG p.S356E Missense 9/9 - 1
19-746718-C-G c.1068C>G p.S356= Synonymous 9/9 - 1
19-746718-C-T c.1068C>T p.S356= Synonymous 9/9 - 2
19-746719-A-G c.1069A>G p.R357G Missense 9/9 - 1
19-746721-G-T c.1071G>T p.R357S Missense 9/9 - 1
19-746722-G-A c.1072G>A p.E358K Missense 9/9 - 1
19-746727-G-A c.1077G>A p.E359= Synonymous 9/9 - 1
19-746730-T-A c.1080T>A p.N360K Missense 9/9 - 1
19-746731-C-T c.1081C>T p.Q361* Nonsense 9/9 - 1
19-746732-A-G c.1082A>G p.Q361R Missense 9/9 - 1
19-746735-C-T c.1085C>T p.A362V Missense 9/9 - 3
19-746736-G-A c.1086G>A p.A362= Synonymous 9/9 - 4
19-746736-G-C c.1086G>C p.A362= Synonymous 9/9 - 1
19-746737-G-A c.1087G>A p.G363R Missense 9/9 - 1
19-746738-G-A c.1088G>A p.G363E Missense 9/9 - 1
19-746738-G-T c.1088G>T p.G363V Missense 9/9 - 1
19-746739-G-A c.1089G>A p.G363= Synonymous 9/9 - 2
19-746739-G-C c.1089G>C p.G363= Synonymous 9/9 - 2
19-746741-C-T c.1091C>T p.P364L Missense 9/9 - 1
19-746742-C-A c.1092C>A p.P364= Synonymous 9/9 - 1
19-746742-C-G c.1092C>G p.P364= Synonymous 9/9 - 2
19-746742-C-T c.1092C>T p.P364= Synonymous 9/9 - 3
19-746743-G-A c.1093G>A p.E365K Missense 9/9 - 1
19-746744-A-G c.1094A>G p.E365G Missense 9/9 - 1
19-746744-A-T c.1094A>T p.E365V Missense 9/9 - 1
19-746745-G-C c.1095G>C p.E365D Missense 9/9 - 1
19-746745-G-T c.1095G>T p.E365D Missense 9/9 - 2
19-746747-CC-AG c.1097_1098delinsAG p.A366E Missense 9/9 - 1
19-746750-C-A c.1100C>A p.T367N Missense 9/9 - 1
19-746750-C-G c.1100C>G p.T367S Missense 9/9 - 1
19-746751-C-A c.1101C>A p.T367= Synonymous 9/9 - 1
19-746751-C-T c.1101C>T p.T367= Synonymous 9/9 - 1
19-746753-C-T c.1103C>T p.T368I Missense 9/9 - 1
19-746754-C-T c.1104C>T p.T368= Synonymous 9/9 - 1
19-746755-A-G c.1105A>G p.S369G Missense 9/9 - 1
19-746757-C-G c.1107C>G p.S369R Missense 9/9 - 1
19-746757-C-T c.1107C>T p.S369= Synonymous 9/9 - 1
19-746758-G-A c.1108G>A p.D370N Missense 9/9 - 1
19-746761-C-T c.1111C>T p.P371S Missense 9/9 - 4
19-746763-C-T c.1113C>T p.P371= Synonymous 9/9 - 1
19-746767-G-A c.1117G>A p.D373N Missense 9/9 - 1
19-746769-C-T c.1119C>T p.D373= Synonymous 9/9 - 1
19-746770-C-T c.1120C>T p.L374F Missense 9/9 - 1
19-746772-C-G c.1122C>G p.L374= Synonymous 9/9 - 1
19-746772-C-T c.1122C>T p.L374= Synonymous 9/9 - 2
19-746773-G-A c.1123G>A p.D375N Missense 9/9 - 1
19-746773-G-C c.1123G>C p.D375H Missense 9/9 - 1
19-746774-A-G c.1124A>G p.D375G Missense 9/9 - 1
19-746775-C-T c.1125C>T p.D375= Synonymous 9/9 - 1
19-746776-A-C c.1126A>C p.M376L Missense 9/9 - 1
19-746776-A-G c.1126A>G p.M376V Missense 9/9 - 1
19-746777-T-G c.1127T>G p.M376R Missense 9/9 - 1
19-746778-G-A c.1128G>A p.M376I Missense 9/9 - 2
19-746778-G-C c.1128G>C p.M376I Missense 9/9 - 1
19-746778-G-T c.1128G>T p.M376I Missense 9/9 - 1
19-746781-G-A c.1131G>A p.K377= Synonymous 9/9 - 5
19-746777-TGAA-T c.1132_1134del p.K378del InFrameDeletion 9/9 - 1
19-746784-G-T c.1134G>T p.K378N Missense 9/9 - 1
19-746785-C-A c.1135C>A p.H379N Missense 9/9 - 1
19-746785-C-T c.1135C>T p.H379Y Missense 9/9 - 1
19-746787-C-T c.1137C>T p.H379= Synonymous 9/9 - 1
19-746788-CG-GC c.1138_1139delinsGC p.R380A Missense 9/9 - 1
19-746788-C-T c.1138C>T p.R380C Missense 9/9 - 2
19-746789-G-A c.1139G>A p.R380H Missense 9/9 - 4
19-746789-G-T c.1139G>T p.R380L Missense 9/9 - 1
19-746790-T-C c.1140T>C p.R380= Synonymous 9/9 - 1
19-746804-C-T c.1154C>T p.S385F Missense 9/9 - 1
19-746808-C-T c.1158C>T p.I386= Synonymous 9/9 - 1
19-746810-T-C c.1160T>C p.M387T Missense 9/9 - 1
19-747150-A-G c.*336A>G - 3-UTRSNV 9/9 - 2
19-747473-C-T c.*659C>T - 3-UTRSNV 9/9 - 1
19-747664-T-A c.*850T>A - 3-UTRSNV 9/9 - 1
19-748084-A-G c.*1270A>G - 3-UTRSNV 9/9 - 3