MARCKS

MARCKS myristoylated alanine rich protein kinase C substrate

Annotation transcript: NM_002356.7

629 unique variant annotations were identified in 723 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
6-114178805-T-A c.-120T>A - 5_prime_UTR_variant 1/2 - 1
6-114178828-C-A c.-94C>A - 5-UTRSNV 1/2 - 3
6-114178828-C-T c.-94C>T - 5-UTRSNV 1/2 - 3
6-114178831-C-CACT c.-91_-90insACT - 5-UTRInsertion 1/2 - 1
6-114178831-C-CGCCGCTGCT c.-89_-88insCGCTGCTGC - 5-UTRInsertion 1/2 - 8
6-114178831-C-CGCTGCTGCT c.-90_-82dup - 5-UTRInsertion 1/2 - 1
6-114178831-C-CGCTGCT c.-87_-82dup - 5-UTRInsertion 1/2 - 1
6-114178831-C-CGCT c.-84_-82dup - 5-UTRInsertion 1/2 - 8
6-114178922-A-C c.1A>C p.M1? Missense 1/2 - 1
6-114178922-CATG-C c.1_3del p.M1? InFrameDeletion 1/2 - 1
6-114178927-T-A c.6T>A p.G2= Synonymous 1/2 - 3
6-114178927-T-C c.6T>C p.G2= Synonymous 1/2 - 3
6-114178927-T-G c.6T>G p.G2= Synonymous 1/2 - 3
6-114178933-G-A c.12G>A p.Q4= Synonymous 1/2 - 3
6-114178945-C-A c.24C>A p.T8= Synonymous 1/2 - 1
6-114178945-C-G c.24C>G p.T8= Synonymous 1/2 - 1
6-114178945-C-T c.24C>T p.T8= Synonymous 1/2 - 1
6-114178949-G-A c.28G>A p.A10T Missense 1/2 - 1
6-114178949-GC-CT c.28_29delinsCT p.A10L Missense 1/2 - 1
6-114178950-C-G c.29C>G p.A10G Missense 1/2 - 1
6-114178951-G-A c.30G>A p.A10= Synonymous 1/2 - 1
6-114178951-G-C c.30G>C p.A10= Synonymous 1/2 - 1
6-114178951-G-T c.30G>T p.A10= Synonymous 1/2 - 1
6-114178952-AAG-TGT c.31_33delinsTGT p.K11C Missense 1/2 - 1
6-114178952-A-G c.31A>G p.K11E Missense 1/2 - 2
6-114178953-A-G c.32A>G p.K11R Missense 1/2 - 3
6-114178953-A-T c.32A>T p.K11M Missense 1/2 - 1
6-114178954-G-A c.33G>A p.K11= Synonymous 1/2 - 1
6-114178955-G-A c.34G>A p.G12R Missense 1/2 - 2
6-114178955-G-C c.34G>C p.G12R Missense 1/2 - 2
6-114178955-GGA-TGT c.34_36delinsTGT p.G12C Missense 1/2 - 1
6-114178956-G-A c.35G>A p.G12E Missense 1/2 - 1
6-114178956-GA-AC c.35_36delinsAC p.G12D Missense 1/2 - 62
6-114178956-G-C c.35G>C p.G12A Missense 1/2 - 3
6-114178956-G-T c.35G>T p.G12V Missense 1/2 - 23
6-114178957-A-AG c.37dup p.E13Gfs*77 Frameshift 1/2 - 1
6-114178958-G-A c.37G>A p.E13K Missense 1/2 - 1
6-114178958-G-C c.37G>C p.E13Q Missense 1/2 - 1
6-114178958-G-T c.37G>T p.E13* Nonsense 1/2 - 1
6-114178959-A-C c.38A>C p.E13A Missense 1/2 - 1
6-114178961-GCC-AAG c.40_42delinsAAG p.A14K Missense 1/2 - 1
6-114178961-GC-CG c.40_41delinsCG p.A14R Missense 1/2 - 1
6-114178961-GC-CT c.40_41delinsCT p.A14L Missense 1/2 - 1
6-114178961-GC-TG c.40_41delinsTG p.A14C Missense 1/2 - 1
6-114178961-GC-TT c.40_41delinsTT p.A14F Missense 1/2 - 1
6-114178961-G-T c.40G>T p.A14S Missense 1/2 - 1
6-114178962-C-A c.41C>A p.A14D Missense 1/2 - 1
6-114178964-G-A c.43G>A p.A15T Missense 1/2 - 3
6-114178964-GC-AA c.43_44delinsAA p.A15N Missense 1/2 - 1
6-114178964-G-T c.43G>T p.A15S Missense 1/2 - 1
6-114178965-CC-AG c.44_45delinsAG p.A15E Missense 1/2 - 2
6-114178965-C-T c.44C>T p.A15V Missense 1/2 - 1
6-114178967-GC-CT c.46_47delinsCT p.A16L Missense 1/2 - 1
6-114178967-GCG-TAT c.46_48delinsTAT p.A16Y Missense 1/2 - 1
6-114178967-GCG-TGT c.46_48delinsTGT p.A16C Missense 1/2 - 1
6-114178967-G-T c.46G>T p.A16S Missense 1/2 - 1
6-114178970-G-A c.49G>A p.E17K Missense 1/2 - 2
6-114178970-GA-AG c.49_50delinsAG p.E17R Missense 1/2 - 1
6-114178971-A-C c.50A>C p.E17A Missense 1/2 - 1
6-114178971-A-G c.50A>G p.E17G Missense 1/2 - 2
6-114178972-G-C c.51G>C p.E17D Missense 1/2 - 1
6-114178972-G-T c.51G>T p.E17D Missense 1/2 - 1
6-114178973-A-G c.52A>G p.R18G Missense 1/2 - 1
6-114178973-AG-GC c.52_53delinsGC p.R18A Missense 1/2 - 1
6-114178975-G-C c.54G>C p.R18S Missense 1/2 - 8
6-114178975-G-T c.54G>T p.R18S Missense 1/2 - 7
6-114178976-C-A c.55C>A p.P19T Missense 1/2 - 1
6-114178976-CC-GA c.55_56delinsGA p.P19D Missense 1/2 - 1
6-114178976-C-T c.55C>T p.P19S Missense 1/2 - 1
6-114178979-G-C c.58G>C p.G20R Missense 1/2 - 1
6-114178982-GAG-TTT c.61_63delinsTTT p.E21F Missense 1/2 - 1
6-114178986-CG-AC c.65_66delinsAC p.A22D Missense 1/2 - 1
6-114178988-GCT-ATG c.67_69delinsATG p.A23M Missense 1/2 - 1
6-114178994-G-A c.73G>A p.A25T Missense 1/2 - 2
6-114178994-GC-TT c.73_74delinsTT p.A25F Missense 1/2 - 1
6-114178994-G-T c.73G>T p.A25S Missense 1/2 - 2
6-114178995-C-A c.74C>A p.A25D Missense 1/2 - 3
6-114178995-CC-AG c.74_75delinsAG p.A25E Missense 1/2 - 1
6-114178997-TC-GA c.76_77inv p.S26E Missense 1/2 - 2
6-114178997-TCG-GAC c.76_78delinsGAC p.S26D Missense 1/2 - 1
6-114178997-T-G c.76T>G p.S26A Missense 1/2 - 2
6-114178998-C-A c.77C>A p.S26* Nonsense 1/2 - 1
6-114178998-CG-GT c.77_78delinsGT p.S26C Missense 1/2 - 1
6-114178998-C-T c.77C>T p.S26L Missense 1/2 - 2
6-114179000-TC-GG c.79_80delinsGG p.S27G Missense 1/2 - 1
6-114179000-T-G c.79T>G p.S27A Missense 1/2 - 2
6-114179001-C-A c.80C>A p.S27* Nonsense 1/2 - 1
6-114179001-CG-GT c.80_81delinsGT p.S27C Missense 1/2 - 1
6-114179001-C-T c.80C>T p.S27L Missense 1/2 - 1
6-114179002-G-A c.81G>A p.S27= Synonymous 1/2 - 1
6-114179002-G-C c.81G>C p.S27= Synonymous 1/2 - 1
6-114179002-G-T c.81G>T p.S27= Synonymous 1/2 - 1
6-114179003-C-A c.82C>A p.P28T Missense 1/2 - 1
6-114179004-C-T c.83C>T p.P28L Missense 1/2 - 1
6-114179006-T-G c.85T>G p.S29A Missense 1/2 - 3
6-114179007-CC-AA c.86_87delinsAA p.S29* Nonsense 1/2 - 1
6-114179007-C-G c.86C>G p.S29C Missense 1/2 - 1
6-114179007-C-T c.86C>T p.S29F Missense 1/2 - 3
6-114179009-A-G c.88A>G p.K30E Missense 1/2 - 2
6-114179011-A-G c.90A>G p.K30= Synonymous 1/2 - 1
6-114179012-GCG-TGT c.91_93delinsTGT p.A31C Missense 1/2 - 1
6-114179012-GCG-TTT c.91_93delinsTTT p.A31F Missense 1/2 - 1
6-114179012-G-T c.91G>T p.A31S Missense 1/2 - 2
6-114179013-C-A c.92C>A p.A31E Missense 1/2 - 1
6-114179013-C-G c.92C>G p.A31G Missense 1/2 - 1
6-114179013-CG-AC c.92_93delinsAC p.A31D Missense 1/2 - 1
6-114179014-G-A c.93G>A p.A31= Synonymous 1/2 - 4
6-114179014-G-C c.93G>C p.A31= Synonymous 1/2 - 1
6-114179014-G-T c.93G>T p.A31= Synonymous 1/2 - 1
6-114179018-G-A c.97G>A p.G33R Missense 1/2 - 1
6-114179018-G-C c.97G>C p.G33R Missense 1/2 - 1
6-114179018-GGA-TGG c.97_99delinsTGG p.G33W Missense 1/2 - 1
6-114179019-G-C c.98G>C p.G33A Missense 1/2 - 1
6-114179021-CA-TC c.99+1_99+2delinsTC p.Q34S Missense 1/2 - 1
6-114179072-T-G c.99+49T>G - IntronicSNV - 1/1 1
6-114180646-C-G c.100-213C>G - intron_variant - 1/1 1
6-114180646-C-T c.100-213C>T - intron_variant - 1/1 1
6-114180671-C-T c.100-188C>T - intron_variant - 1/1 1
6-114180860-A-C c.104A>C p.E35A Missense 2/2 - 1
6-114180865-G-C c.109G>C p.G37R Missense 2/2 - 2
6-114180873-G-C c.117G>C p.V39= Synonymous 2/2 - 1
6-114180882-C-T c.126C>T p.N42= Synonymous 2/2 - 1
6-114180887-A-G c.131A>G p.D44G Missense 2/2 - 1
6-114180888-C-T c.132C>T p.D44= Synonymous 2/2 - 1
6-114180889-G-A c.133G>A p.A45T Missense 2/2 - 2
6-114180889-GCT-CAA c.133_135delinsCAA p.A45Q Missense 2/2 - 1
6-114180889-GC-TG c.133_134delinsTG p.A45C Missense 2/2 - 1
6-114180889-G-T c.133G>T p.A45S Missense 2/2 - 1
6-114180890-CT-AG c.134_135inv p.A45E Missense 2/2 - 1
6-114180891-T-A c.135T>A p.A45= Synonymous 2/2 - 2
6-114180891-T-C c.135T>C p.A45= Synonymous 2/2 - 2
6-114180891-T-G c.135T>G p.A45= Synonymous 2/2 - 2
6-114180892-TC-AT c.136_137delinsAT p.S46M Missense 2/2 - 1
6-114180892-TC-GA c.136_137inv p.S46E Missense 2/2 - 1
6-114180892-TCG-GAC c.136_138delinsGAC p.S46D Missense 2/2 - 1
6-114180892-T-G c.136T>G p.S46A Missense 2/2 - 1
6-114180893-C-A c.137C>A p.S46* Nonsense 2/2 - 1
6-114180898-GCG-TGT c.142_144delinsTGT p.A48C Missense 2/2 - 1
6-114180898-GCG-TTT c.142_144delinsTTT p.A48F Missense 2/2 - 1
6-114180899-CG-AC c.143_144delinsAC p.A48D Missense 2/2 - 2
6-114180900-G-A c.144G>A p.A48= Synonymous 2/2 - 2
6-114180900-G-C c.144G>C p.A48= Synonymous 2/2 - 2
6-114180900-G-T c.144G>T p.A48= Synonymous 2/2 - 2
6-114180901-G-A c.145G>A p.A49T Missense 2/2 - 4
6-114180901-GC-TG c.145_146delinsTG p.A49C Missense 2/2 - 2
6-114180901-GC-TT c.145_146delinsTT p.A49F Missense 2/2 - 2
6-114180901-G-T c.145G>T p.A49S Missense 2/2 - 2
6-114180902-C-A c.146C>A p.A49D Missense 2/2 - 1
6-114180902-CC-AG c.146_147delinsAG p.A49E Missense 2/2 - 2
6-114180902-C-T c.146C>T p.A49V Missense 2/2 - 3
6-114180903-C-A c.147C>A p.A49= Synonymous 2/2 - 1
6-114180903-C-G c.147C>G p.A49= Synonymous 2/2 - 1
6-114180903-C-T c.147C>T p.A49= Synonymous 2/2 - 1
6-114180904-G-A c.148G>A p.A50T Missense 2/2 - 2
6-114180904-GC-CG c.148_149delinsCG p.A50R Missense 2/2 - 1
6-114180905-C-A c.149C>A p.A50D Missense 2/2 - 1
6-114180905-C-G c.149C>G p.A50G Missense 2/2 - 1
6-114180905-C-T c.149C>T p.A50V Missense 2/2 - 2
6-114180904-GC-G c.150del p.E51Sfs*53 Frameshift 2/2 - 1
6-114180906-C-A c.150C>A p.A50= Synonymous 2/2 - 1
6-114180906-C-G c.150C>G p.A50= Synonymous 2/2 - 1
6-114180906-C-T c.150C>T p.A50= Synonymous 2/2 - 1
6-114180910-TCG-AAC c.154_156delinsAAC p.S52N Missense 2/2 - 1
6-114180912-G-A c.156G>A p.S52= Synonymous 2/2 - 1
6-114180912-G-C c.156G>C p.S52= Synonymous 2/2 - 1
6-114180912-G-T c.156G>T p.S52= Synonymous 2/2 - 1
6-114180913-G-A c.157G>A p.G53S Missense 2/2 - 1
6-114180913-G-C c.157G>C p.G53R Missense 2/2 - 1
6-114180914-GC-AG c.158_159delinsAG p.G53E Missense 2/2 - 1
6-114180917-C-A c.161C>A p.A54D Missense 2/2 - 1
6-114180917-CC-AG c.161_162delinsAG p.A54E Missense 2/2 - 1
6-114180918-C-A c.162C>A p.A54= Synonymous 2/2 - 1
6-114180918-C-G c.162C>G p.A54= Synonymous 2/2 - 1
6-114180918-C-T c.162C>T p.A54= Synonymous 2/2 - 1
6-114180919-A-G c.163A>G p.K55E Missense 2/2 - 1
6-114180920-A-T c.164A>T p.K55M Missense 2/2 - 1
6-114180921-G-A c.165G>A p.K55= Synonymous 2/2 - 1
6-114180922-G-A c.166G>A p.E56K Missense 2/2 - 1
6-114180923-A-G c.167A>G p.E56G Missense 2/2 - 1
6-114180925-G-C c.169G>C p.E57Q Missense 2/2 - 1
6-114180926-A-C c.170A>C p.E57A Missense 2/2 - 2
6-114180931-CAG-TTT c.175_177delinsTTT p.Q59F Missense 2/2 - 1
6-114180933-G-A c.177G>A p.Q59= Synonymous 2/2 - 1
6-114180939-C-T c.183C>T p.N61= Synonymous 2/2 - 1
6-114180943-A-T c.187A>T p.S63C Missense 2/2 - 1
6-114180945-C-T c.189C>T p.S63= Synonymous 2/2 - 1
6-114180946-GC-TG c.190_191delinsTG p.A64C Missense 2/2 - 1
6-114180946-GC-TT c.190_191delinsTT p.A64F Missense 2/2 - 1
6-114180947-C-A c.191C>A p.A64D Missense 2/2 - 3
6-114180948-C-A c.192C>A p.A64= Synonymous 2/2 - 1
6-114180948-C-G c.192C>G p.A64= Synonymous 2/2 - 1
6-114180948-C-T c.192C>T p.A64= Synonymous 2/2 - 1
6-114180949-CC-AA c.193_194delinsAA p.P65K Missense 2/2 - 1
6-114180949-C-G c.193C>G p.P65A Missense 2/2 - 1
6-114180952-G-T c.196G>T p.A66S Missense 2/2 - 1
6-114180953-CC-AG c.197_198delinsAG p.A66E Missense 2/2 - 2
6-114180953-C-T c.197C>T p.A66V Missense 2/2 - 1
6-114180955-GC-TT c.199_200delinsTT p.A67F Missense 2/2 - 1
6-114180956-C-T c.200C>T p.A67V Missense 2/2 - 8
6-114180958-G-A c.202G>A p.D68N Missense 2/2 - 1
6-114180963-G-A c.207G>A p.K69= Synonymous 2/2 - 1
6-114180968-A-C c.212A>C p.E71A Missense 2/2 - 2
6-114180971-C-G c.215C>G p.P72R Missense 2/2 - 1
6-114180972-C-T c.216C>T p.P72= Synonymous 2/2 - 1
6-114180973-GCG-TGT c.217_219delinsTGT p.A73C Missense 2/2 - 2
6-114180973-GCG-TTT c.217_219delinsTTT p.A73F Missense 2/2 - 1
6-114180974-C-A c.218C>A p.A73E Missense 2/2 - 1
6-114180974-C-G c.218C>G p.A73G Missense 2/2 - 1
6-114180974-CG-AC c.218_219delinsAC p.A73D Missense 2/2 - 3
6-114180975-G-A c.219G>A p.A73= Synonymous 2/2 - 1
6-114180975-G-C c.219G>C p.A73= Synonymous 2/2 - 1
6-114180975-G-T c.219G>T p.A73= Synonymous 2/2 - 1
6-114180976-GC-TG c.220_221delinsTG p.A74C Missense 2/2 - 1
6-114180977-C-A c.221C>A p.A74D Missense 2/2 - 2
6-114180977-C-T c.221C>T p.A74V Missense 2/2 - 1
6-114180978-C-A c.222C>A p.A74= Synonymous 2/2 - 2
6-114180978-C-G c.222C>G p.A74= Synonymous 2/2 - 2
6-114180978-C-T c.222C>T p.A74= Synonymous 2/2 - 3
6-114180979-GC-TG c.223_224delinsTG p.A75C Missense 2/2 - 3
6-114180980-C-A c.224C>A p.A75D Missense 2/2 - 1
6-114180981-C-A c.225C>A p.A75= Synonymous 2/2 - 3
6-114180981-C-G c.225C>G p.A75= Synonymous 2/2 - 3
6-114180981-C-T c.225C>T p.A75= Synonymous 2/2 - 3
6-114180983-G-T c.227G>T p.G76V Missense 2/2 - 1
6-114180985-AGC-GAG c.229_231delinsGAG p.S77E Missense 2/2 - 1
6-114180985-AG-GA c.229_230delinsGA p.S77D Missense 2/2 - 1
6-114180985-AG-GC c.229_230delinsGC p.S77A Missense 2/2 - 1
6-114180987-C-T c.231C>T p.S77= Synonymous 2/2 - 1
6-114180991-GCG-TTT c.235_237delinsTTT p.A79F Missense 2/2 - 3
6-114180992-C-T c.236C>T p.A79V Missense 2/2 - 1
6-114180992-GC-G c.236del p.A79Gfs*25 Frameshift 2/2 - 1
6-114180993-G-A c.237G>A p.A79= Synonymous 2/2 - 1
6-114180993-G-C c.237G>C p.A79= Synonymous 2/2 - 1
6-114180993-G-T c.237G>T p.A79= Synonymous 2/2 - 1
6-114180994-GCG-TGT c.238_240delinsTGT p.A80C Missense 2/2 - 2
6-114180994-GCG-TTT c.238_240delinsTTT p.A80F Missense 2/2 - 1
6-114180994-G-T c.238G>T p.A80S Missense 2/2 - 1
6-114180996-G-A c.240G>A p.A80= Synonymous 2/2 - 2
6-114180996-G-C c.240G>C p.A80= Synonymous 2/2 - 2
6-114180996-G-T c.240G>T p.A80= Synonymous 2/2 - 2
6-114180994-GCGT-G c.241_243del p.S81del InFrameDeletion 2/2 - 1
6-114180997-TCG-ATC c.241_243delinsATC p.S81I Missense 2/2 - 1
6-114181000-C-T c.244C>T p.P82S Missense 2/2 - 1
6-114180999-GC-G c.246del p.S83Pfs*21 Frameshift 2/2 - 1
6-114180999-G-GC c.246dup p.S83Lfs*7 Frameshift 2/2 - 1
6-114181004-CC-AA c.248_249delinsAA p.S83* Nonsense 2/2 - 1
6-114181006-G-A c.250G>A p.A84T Missense 2/2 - 2
6-114181006-GCG-TTT c.250_252delinsTTT p.A84F Missense 2/2 - 1
6-114181009-G-A c.253G>A p.A85T Missense 2/2 - 1
6-114181009-GC-TG c.253_254delinsTG p.A85C Missense 2/2 - 1
6-114181011-C-A c.255C>A p.A85= Synonymous 2/2 - 1
6-114181011-C-G c.255C>G p.A85= Synonymous 2/2 - 1
6-114181011-C-T c.255C>T p.A85= Synonymous 2/2 - 2
6-114181012-GA-TC c.256_257inv p.E86S Missense 2/2 - 1
6-114181011-CGA-C c.258_259del p.K87Rfs*2 Frameshift 2/2 - 1
6-114181015-AA-GC c.259_260delinsGC p.K87A Missense 2/2 - 2
6-114181016-A-G c.260A>G p.K87R Missense 2/2 - 2
6-114181017-A-C c.261A>C p.K87N Missense 2/2 - 1
6-114181019-GT-AG c.263_264delinsAG p.G88E Missense 2/2 - 1
6-114181021-G-A c.265G>A p.E89K Missense 2/2 - 2
6-114181021-GAG-TTT c.265_267delinsTTT p.E89F Missense 2/2 - 2
6-114181021-G-C c.265G>C p.E89Q Missense 2/2 - 1
6-114181024-C-G c.268C>G p.P90A Missense 2/2 - 2
6-114181027-GC-TG c.271_272delinsTG p.A91C Missense 2/2 - 1
6-114181027-GC-TT c.271_272delinsTT p.A91F Missense 2/2 - 3
6-114181026-GGCCGCCGCC-G c.273_281del p.A93_A95del InFrameDeletion 2/2 - 2
6-114181030-GC-TT c.274_275delinsTT p.A92F Missense 2/2 - 2
6-114181032-C-T c.276C>T p.A92= Synonymous 2/2 - 1
6-114181033-GC-TG c.277_278delinsTG p.A93C Missense 2/2 - 1
6-114181033-GC-TT c.277_278delinsTT p.A93F Missense 2/2 - 1
6-114181034-CC-ACGAGCTT c.278_279delinsACGAGCTT p.A93delinsDEL MultiAAMissense 2/2 - 1
6-114181034-C-G c.278C>G p.A93G Missense 2/2 - 1
6-114181036-G-A c.280G>A p.A94T Missense 2/2 - 1
6-114181036-GC-TG c.280_281delinsTG p.A94C Missense 2/2 - 1
6-114181037-C-A c.281C>A p.A94D Missense 2/2 - 2
6-114181039-TGCC-T c.283_285del p.A95del InFrameDeletion 2/2 - 1
6-114181040-CC-AG c.284_285delinsAG p.A95E Missense 2/2 - 1
6-114181043-C-G c.287C>G p.P96R Missense 2/2 - 1
6-114181046-A-G c.290A>G p.E97G Missense 2/2 - 1
6-114181048-G-T c.292G>T p.A98S Missense 2/2 - 1
6-114181049-C-A c.293C>A p.A98D Missense 2/2 - 2
6-114181049-C-G c.293C>G p.A98G Missense 2/2 - 1
6-114181051-G-A c.295G>A p.G99R Missense 2/2 - 1
6-114181051-G-C c.295G>C p.G99R Missense 2/2 - 1
6-114181054-GCC-TAA c.298_300delinsTAA p.A100* Nonsense 2/2 - 1
6-114181055-C-G c.299C>G p.A100G Missense 2/2 - 1
6-114181056-C-T c.300C>T p.A100= Synonymous 2/2 - 1
6-114181057-A-C c.301A>C p.S101R Missense 2/2 - 1
6-114181057-A-G c.301A>G p.S101G Missense 2/2 - 1
6-114181057-AG-GA c.301_302delinsGA p.S101D Missense 2/2 - 1
6-114181057-AG-GC c.301_302delinsGC p.S101A Missense 2/2 - 2
6-114181057-AG-TA c.301_302delinsTA p.S101Y Missense 2/2 - 1
6-114181057-AG-TT c.301_302delinsTT p.S101F Missense 2/2 - 1
6-114181058-G-A c.302G>A p.S101N Missense 2/2 - 1
6-114181059-C-A c.303C>A p.S101R Missense 2/2 - 1
6-114181059-C-T c.303C>T p.S101= Synonymous 2/2 - 1
6-114181061-C-G c.305C>G p.P102R Missense 2/2 - 1
6-114181063-G-A c.307G>A p.V103I Missense 2/2 - 1
6-114181066-G-C c.310G>C p.E104Q Missense 2/2 - 1
6-114181074-G-C c.318G>C p.E106D Missense 2/2 - 1
6-114181074-G-T c.318G>T p.E106D Missense 2/2 - 1
6-114181076-C-T c.320C>T p.A107V Missense 2/2 - 1
6-114181081-G-C c.325G>C p.A109P Missense 2/2 - 1
6-114181085-A-C c.329A>C p.E110A Missense 2/2 - 1
6-114181086-A-C c.330A>C p.E110D Missense 2/2 - 1
6-114181086-A-T c.330A>T p.E110D Missense 2/2 - 1
6-114181089-C-A c.333C>A p.G111= Synonymous 2/2 - 1
6-114181089-C-G c.333C>G p.G111= Synonymous 2/2 - 1
6-114181089-C-T c.333C>T p.G111= Synonymous 2/2 - 1
6-114181090-G-A c.334G>A p.E112K Missense 2/2 - 1
6-114181090-G-T c.334G>T p.E112* Nonsense 2/2 - 1
6-114181092-G-A c.336G>A p.E112= Synonymous 2/2 - 1
6-114181096-G-A c.340G>A p.A114T Missense 2/2 - 1
6-114181096-G-C c.340G>C p.A114P Missense 2/2 - 1
6-114181096-GC-TG c.340_341delinsTG p.A114C Missense 2/2 - 1
6-114181101-G-A c.345G>A p.E115= Synonymous 2/2 - 1
6-114181108-T-C c.352T>C p.S118P Missense 2/2 - 1
6-114181108-T-G c.352T>G p.S118A Missense 2/2 - 1
6-114181109-C-T c.353C>T p.S118L Missense 2/2 - 1
6-114181110-G-A c.354G>A p.S118= Synonymous 2/2 - 1
6-114181110-G-C c.354G>C p.S118= Synonymous 2/2 - 1
6-114181110-G-T c.354G>T p.S118= Synonymous 2/2 - 1
6-114181111-CC-TG c.355_356delinsTG p.P119C Missense 2/2 - 1
6-114181112-C-G c.356C>G p.P119R Missense 2/2 - 2
6-114181112-C-T c.356C>T p.P119L Missense 2/2 - 2
6-114181114-AC-TA c.358_359delinsTA p.T120* Nonsense 2/2 - 1
6-114181115-CG-TC c.359_360delinsTC p.T120I Missense 2/2 - 1
6-114181115-C-T c.359C>T p.T120M Missense 2/2 - 1
6-114181118-C-T c.362C>T p.A121V Missense 2/2 - 2
6-114181119-C-A c.363C>A p.A121= Synonymous 2/2 - 1
6-114181119-C-G c.363C>G p.A121= Synonymous 2/2 - 1
6-114181119-C-T c.363C>T p.A121= Synonymous 2/2 - 1
6-114181120-G-A c.364G>A p.A122T Missense 2/2 - 1
6-114181123-G-T c.367G>T p.E123* Nonsense 2/2 - 1
6-114181126-G-A c.370G>A p.G124R Missense 2/2 - 1
6-114181126-G-C c.370G>C p.G124R Missense 2/2 - 1
6-114181127-G-A c.371G>A p.G124E Missense 2/2 - 3
6-114181129-G-A c.373G>A p.E125K Missense 2/2 - 1
6-114181138-TC-AG c.382_383delinsAG p.S128R Missense 2/2 - 1
6-114181145-C-G c.389C>G p.A130G Missense 2/2 - 1
6-114181149-C-A c.393C>A p.S131= Synonymous 2/2 - 1
6-114181149-C-G c.393C>G p.S131= Synonymous 2/2 - 1
6-114181149-C-T c.393C>T p.S131= Synonymous 2/2 - 1
6-114181151-CG-GT c.395_396delinsGT p.S132C Missense 2/2 - 1
6-114181152-G-A c.396G>A p.S132= Synonymous 2/2 - 1
6-114181152-G-C c.396G>C p.S132= Synonymous 2/2 - 1
6-114181152-G-T c.396G>T p.S132= Synonymous 2/2 - 1
6-114181155-T-A c.399T>A p.T133= Synonymous 2/2 - 1
6-114181155-T-C c.399T>C p.T133= Synonymous 2/2 - 1
6-114181155-T-G c.399T>G p.T133= Synonymous 2/2 - 1
6-114181157-C-A c.401C>A p.S134Y Missense 2/2 - 1
6-114181159-T-C c.403T>C p.S135P Missense 2/2 - 1
6-114181159-T-G c.403T>G p.S135A Missense 2/2 - 1
6-114181160-CG-GT c.404_405delinsGT p.S135C Missense 2/2 - 1
6-114181169-C-G c.413C>G p.A138G Missense 2/2 - 1
6-114181171-G-T c.415G>T p.E139* Nonsense 2/2 - 2
6-114181174-G-A c.418G>A p.D140N Missense 2/2 - 1
6-114181174-G-T c.418G>T p.D140Y Missense 2/2 - 2
6-114181175-A-C c.419A>C p.D140A Missense 2/2 - 1
6-114181176-C-T c.420C>T p.D140= Synonymous 2/2 - 1
6-114181179-G-A c.423G>A p.G141= Synonymous 2/2 - 1
6-114181179-G-C c.423G>C p.G141= Synonymous 2/2 - 1
6-114181179-G-T c.423G>T p.G141= Synonymous 2/2 - 1
6-114181180-G-C c.424G>C p.A142P Missense 2/2 - 1
6-114181183-ACG-TGT c.427_429delinsTGT p.T143C Missense 2/2 - 1
6-114181185-G-A c.429G>A p.T143= Synonymous 2/2 - 2
6-114181185-G-C c.429G>C p.T143= Synonymous 2/2 - 2
6-114181185-G-T c.429G>T p.T143= Synonymous 2/2 - 2
6-114181189-T-G c.433T>G p.S145A Missense 2/2 - 1
6-114181190-C-T c.434C>T p.S145L Missense 2/2 - 1
6-114181191-G-A c.435G>A p.S145= Synonymous 2/2 - 2
6-114181191-G-C c.435G>C p.S145= Synonymous 2/2 - 2
6-114181191-G-T c.435G>T p.S145= Synonymous 2/2 - 2
6-114181195-A-G c.439A>G p.S147G Missense 2/2 - 2
6-114181195-AGC-TGA c.439_441delinsTGA p.S147* Nonsense 2/2 - 1
6-114181195-AG-GC c.439_440delinsGC p.S147A Missense 2/2 - 1
6-114181196-GC-AG c.440_441delinsAG p.S147K Missense 2/2 - 1
6-114181196-G-T c.440G>T p.S147I Missense 2/2 - 1
6-114181197-C-T c.441C>T p.S147= Synonymous 2/2 - 1
6-114181201-G-A c.445G>A p.E149K Missense 2/2 - 1
6-114181203-G-C c.447G>C p.E149D Missense 2/2 - 1
6-114181203-G-T c.447G>T p.E149D Missense 2/2 - 1
6-114181204-ACC-TAA c.448_450delinsTAA p.T150* Nonsense 2/2 - 1
6-114181208-C-CG c.453dup p.K152Efs*32 Frameshift 2/2 - 1
6-114181209-CGA-C c.453_454del p.K155Efs*28 Frameshift 2/2 - 2
6-114181209-G-A c.453G>A p.P151= Synonymous 2/2 - 1
6-114181209-G-C c.453G>C p.P151= Synonymous 2/2 - 1
6-114181209-G-GT c.453_454insT p.K152* Nonsense 2/2 - 2
6-114181209-G-T c.453G>T p.P151= Synonymous 2/2 - 1
6-114181210-A-C c.454A>C p.K152Q Missense 2/2 - 1
6-114181210-A-G c.454A>G p.K152E Missense 2/2 - 1
6-114181218-A-AT c.462_463insT p.K155* Nonsense 2/2 - 4
6-114181209-GAA-G c.463_464del p.K155Efs*28 Frameshift 2/2 - 3
6-114181219-AA-GC c.463_464delinsGC p.K155A Missense 2/2 - 1
6-114181219-A-G c.463A>G p.K155E Missense 2/2 - 1
6-114181209-GA-G c.464del p.K155Rfs*12 Frameshift 2/2 - 7
6-114181209-G-GA c.464dup p.K156Efs*28 Frameshift 2/2 - 6
6-114181221-G-GT c.465_466insT p.K156* Nonsense 2/2 - 1
6-114181218-AAAG-A c.466_468del p.K156del InFrameDeletion 2/2 - 1
6-114181226-G-C c.470G>C p.R157P Missense 2/2 - 1
6-114181228-T-A c.472T>A p.F158I Missense 2/2 - 1
6-114181228-T-C c.472T>C p.F158L Missense 2/2 - 1
6-114181228-T-G c.472T>G p.F158V Missense 2/2 - 4
6-114181230-T-A c.474T>A p.F158L Missense 2/2 - 1
6-114181230-T-G c.474T>G p.F158L Missense 2/2 - 3
6-114181231-T-G c.475T>G p.S159A Missense 2/2 - 1
6-114181232-C-T c.476C>T p.S159F Missense 2/2 - 2
6-114181235-TC-GG c.479_480delinsGG p.F160W Missense 2/2 - 2
6-114181243-TC-AA c.487_488delinsAA p.S163N Missense 2/2 - 1
6-114181243-T-G c.487T>G p.S163A Missense 2/2 - 1
6-114181248-C-T c.492C>T p.F164= Synonymous 2/2 - 1
6-114181251-G-A c.495G>A p.K165= Synonymous 2/2 - 2
6-114181251-G-C c.495G>C p.K165N Missense 2/2 - 1
6-114181253-T-C c.497T>C p.L166P Missense 2/2 - 2
6-114181255-AGC-GAG c.499_501delinsGAG p.S167E Missense 2/2 - 1
6-114181255-AG-GC c.499_500delinsGC p.S167A Missense 2/2 - 1
6-114181255-A-T c.499A>T p.S167C Missense 2/2 - 4
6-114181256-G-T c.500G>T p.S167I Missense 2/2 - 1
6-114181257-C-T c.501C>T p.S167= Synonymous 2/2 - 1
6-114181262-T-G c.506T>G p.F169C Missense 2/2 - 1
6-114181263-C-A c.507C>A p.F169L Missense 2/2 - 1
6-114181265-CC-AA c.509_510delinsAA p.S170* Nonsense 2/2 - 1
6-114181266-C-A c.510C>A p.S170= Synonymous 2/2 - 1
6-114181266-C-G c.510C>G p.S170= Synonymous 2/2 - 1
6-114181266-C-T c.510C>T p.S170= Synonymous 2/2 - 1
6-114181272-G-A c.516G>A p.K172= Synonymous 2/2 - 1
6-114181272-G-C c.516G>C p.K172N Missense 2/2 - 1
6-114181272-G-T c.516G>T p.K172N Missense 2/2 - 1
6-114181285-GA-AG c.529_530delinsAG p.E177R Missense 2/2 - 1
6-114181290-T-G c.534T>G p.A178= Synonymous 2/2 - 1
6-114181295-A-C c.539A>C p.E180A Missense 2/2 - 1
6-114181297-G-A c.541G>A p.G181S Missense 2/2 - 1
6-114181299-C-A c.543C>A p.G181= Synonymous 2/2 - 1
6-114181299-C-G c.543C>G p.G181= Synonymous 2/2 - 1
6-114181299-C-T c.543C>T p.G181= Synonymous 2/2 - 1
6-114181304-A-G c.548A>G p.E183G Missense 2/2 - 1
6-114181308-T-G c.552T>G p.A184= Synonymous 2/2 - 1
6-114181309-G-T c.553G>T p.E185* Nonsense 2/2 - 1
6-114181314-G-GGAGGCA c.558_559insGAGGCA p.E185_A186dup InFrameInsertion 2/2 - 1
6-114181315-C-T c.559C>T p.P187S Missense 2/2 - 1
6-114181319-C-A c.563C>A p.A188D Missense 2/2 - 1
6-114181321-GC-TT c.565_566delinsTT p.A189F Missense 2/2 - 1
6-114181322-C-G c.566C>G p.A189G Missense 2/2 - 1
6-114181324-G-A c.568G>A p.E190K Missense 2/2 - 1
6-114181325-A-T c.569A>T p.E190V Missense 2/2 - 1
6-114181326-A-C c.570A>C p.E190D Missense 2/2 - 1
6-114181329-C-A c.573C>A p.G191= Synonymous 2/2 - 1
6-114181329-C-G c.573C>G p.G191= Synonymous 2/2 - 1
6-114181329-C-T c.573C>T p.G191= Synonymous 2/2 - 1
6-114181334-A-G c.578A>G p.K193R Missense 2/2 - 1
6-114181338-C-T c.582C>T p.D194= Synonymous 2/2 - 1
6-114181339-GAG-CAT c.583_585delinsCAT p.E195H Missense 2/2 - 1
6-114181339-GAG-TGT c.583_585delinsTGT p.E195C Missense 2/2 - 1
6-114181340-A-C c.584A>C p.E195A Missense 2/2 - 1
6-114181341-G-C c.585G>C p.E195D Missense 2/2 - 1
6-114181341-G-T c.585G>T p.E195D Missense 2/2 - 1
6-114181346-C-A c.590C>A p.A197D Missense 2/2 - 1
6-114181349-G-C c.593G>C p.G198A Missense 2/2 - 1
6-114181349-G-T c.593G>T p.G198V Missense 2/2 - 1
6-114181354-G-A c.598G>A p.A200T Missense 2/2 - 1
6-114181354-G-T c.598G>T p.A200S Missense 2/2 - 1
6-114181355-C-G c.599C>G p.A200G Missense 2/2 - 1
6-114181355-C-T c.599C>T p.A200V Missense 2/2 - 1
6-114181358-C-T c.602C>T p.A201V Missense 2/2 - 1
6-114181360-G-A c.604G>A p.A202T Missense 2/2 - 1
6-114181361-C-T c.605C>T p.A202V Missense 2/2 - 2
6-114181378-G-A c.622G>A p.G208S Missense 2/2 - 1
6-114181378-G-C c.622G>C p.G208R Missense 2/2 - 1
6-114181378-GG-AC c.622_623delinsAC p.G208T Missense 2/2 - 1
6-114181378-GGC-CAACAACAACAACAACAACAACAACAACAACAAAGG c.622_624delinsCAACAACAACAACAACAACAACAACAACAACAAAGG p.G208delinsQQQQQQQQQQQR MultiAAMissense 2/2 - 1
6-114181385-C-A c.629C>A p.A210D Missense 2/2 - 1
6-114181391-G-C c.635G>C p.G212A Missense 2/2 - 1
6-114181405-G-A c.649G>A p.A217T Missense 2/2 - 1
6-114181413-C-T c.657C>T p.G219= Synonymous 2/2 - 1
6-114181416-G-A c.660G>A p.E220= Synonymous 2/2 - 1
6-114181421-C-T c.665C>T p.A222V Missense 2/2 - 4
6-114181423-G-A c.667G>A p.A223T Missense 2/2 - 1
6-114181435-GA-CT c.679_680delinsCT p.E227L Missense 2/2 - 1
6-114181436-A-C c.680A>C p.E227A Missense 2/2 - 1
6-114181441-G-A c.685G>A p.A229T Missense 2/2 - 1
6-114181442-C-T c.686C>T p.A229V Missense 2/2 - 1
6-114181450-G-T c.694G>T p.G232C Missense 2/2 - 2
6-114181451-G-A c.695G>A p.G232D Missense 2/2 - 1
6-114181452-C-T c.696C>T p.G232= Synonymous 2/2 - 1
6-114181466-C-T c.710C>T p.A237V Missense 2/2 - 1
6-114181470-G-C c.714G>C p.K238N Missense 2/2 - 1
6-114181470-G-T c.714G>T p.K238N Missense 2/2 - 1
6-114181481-C-T c.725C>T p.A242V Missense 2/2 - 1
6-114181482-CGCT-C c.728_730del p.A243del InFrameDeletion 2/2 - 1
6-114181486-G-A c.730G>A p.V244I Missense 2/2 - 1
6-114181486-G-T c.730G>T p.V244F Missense 2/2 - 1
6-114181488-C-G c.732C>G p.V244= Synonymous 2/2 - 1
6-114181490-C-T c.734C>T p.A245V Missense 2/2 - 1
6-114181496-GA-G c.740del p.E247Gfs*122 Frameshift 2/2 - 1
6-114181500-G-A c.744G>A p.K248= Synonymous 2/2 - 1
6-114181504-C-T c.748C>T p.P250S Missense 2/2 - 1
6-114181505-C-T c.749C>T p.P250L Missense 2/2 - 3
6-114181507-G-A c.751G>A p.A251T Missense 2/2 - 1
6-114181508-C-G c.752C>G p.A251G Missense 2/2 - 1
6-114181514-A-G c.758A>G p.D253G Missense 2/2 - 3
6-114181516-G-A c.760G>A p.E254K Missense 2/2 - 1
6-114181526-C-T c.770C>T p.A257V Missense 2/2 - 1
6-114181529-CC-AG c.773_774delinsAG p.A258E Missense 2/2 - 1
6-114181529-C-G c.773C>G p.A258G Missense 2/2 - 1
6-114181530-C-G c.774C>G p.A258= Synonymous 2/2 - 1
6-114181531-G-T c.775G>T p.E259* Nonsense 2/2 - 1
6-114181532-A-C c.776A>C p.E259A Missense 2/2 - 1
6-114181534-G-A c.778G>A p.E260K Missense 2/2 - 1
6-114181540-AG-CC c.784_785delinsCC p.S262P Missense 2/2 - 1
6-114181540-AGC-CAA c.784_786delinsCAA p.S262Q Missense 2/2 - 1
6-114181540-AGC-GAG c.784_786delinsGAG p.S262E Missense 2/2 - 1
6-114181540-AG-GA c.784_785delinsGA p.S262D Missense 2/2 - 1
6-114181540-AG-GC c.784_785delinsGC p.S262A Missense 2/2 - 1
6-114181543-A-G c.787A>G p.K263E Missense 2/2 - 1
6-114181544-A-T c.788A>T p.K263M Missense 2/2 - 1
6-114181545-G-A c.789G>A p.K263= Synonymous 2/2 - 1
6-114181550-A-C c.794A>C p.E265A Missense 2/2 - 1
6-114181551-G-C c.795G>C p.E265D Missense 2/2 - 1
6-114181551-G-T c.795G>T p.E265D Missense 2/2 - 1
6-114181552-G-A c.796G>A p.E266K Missense 2/2 - 1
6-114181553-A-C c.797A>C p.E266A Missense 2/2 - 2
6-114181553-A-G c.797A>G p.E266G Missense 2/2 - 1
6-114181554-G-A c.798G>A p.E266= Synonymous 2/2 - 1
6-114181558-A-G c.802A>G p.K268E Missense 2/2 - 1
6-114181573-GG-TA c.817_818delinsTA p.G273* Nonsense 2/2 - 1
6-114181575-G-A c.819G>A p.G273= Synonymous 2/2 - 1
6-114181575-G-T c.819G>T p.G273= Synonymous 2/2 - 1
6-114181576-G-A c.820G>A p.A274T Missense 2/2 - 1
6-114181577-C-T c.821C>T p.A274V Missense 2/2 - 5
6-114181582-G-A c.826G>A p.A276T Missense 2/2 - 1
6-114181585-G-A c.829G>A p.A277T Missense 2/2 - 1
6-114181586-C-T c.830C>T p.A277V Missense 2/2 - 1
6-114181597-G-A c.841G>A p.A281T Missense 2/2 - 1
6-114181598-C-T c.842C>T p.A281V Missense 2/2 - 1
6-114181600-C-T c.844C>T p.P282S Missense 2/2 - 1
6-114181606-G-A c.850G>A p.A284T Missense 2/2 - 1
6-114181606-G-C c.850G>C p.A284P Missense 2/2 - 3
6-114181612-GGG-AGC c.856_858delinsAGC p.G286S Missense 2/2 - 1
6-114181615-CC-GG c.859_860inv p.P287G Missense 2/2 - 1
6-114181619-GC-AG c.863_864delinsAG p.G288E Missense 2/2 - 1
6-114181620-C-T c.864C>T p.G288= Synonymous 2/2 - 1
6-114181621-G-A c.865G>A p.A289T Missense 2/2 - 1
6-114181623-G-A c.867G>A p.A289= Synonymous 2/2 - 1
6-114181624-C-T c.868C>T p.P290S Missense 2/2 - 1
6-114181626-C-A c.870C>A p.P290= Synonymous 2/2 - 2
6-114181626-C-G c.870C>G p.P290= Synonymous 2/2 - 2
6-114181626-C-T c.870C>T p.P290= Synonymous 2/2 - 2
6-114181628-C-T c.872C>T p.P291L Missense 2/2 - 1
6-114181632-G-A c.876G>A p.E292= Synonymous 2/2 - 2
6-114181633-C-A c.877C>A p.Q293K Missense 2/2 - 1
6-114181639-G-A c.883G>A p.A295T Missense 2/2 - 2
6-114181642-G-T c.886G>T p.A296S Missense 2/2 - 1
6-114181642-G-GC c.891dup p.A298Rfs*44 Frameshift 2/2 - 1
6-114181647-C-T c.891C>T p.P297= Synonymous 2/2 - 1
6-114181651-G-A c.895G>A p.E299K Missense 2/2 - 3
6-114181652-A-G c.896A>G p.E299G Missense 2/2 - 1
6-114181655-A-C c.899A>C p.E300A Missense 2/2 - 1
6-114181657-C-T c.901C>T p.P301S Missense 2/2 - 17
6-114181658-C-A c.902C>A p.P301H Missense 2/2 - 1
6-114181658-C-T c.902C>T p.P301L Missense 2/2 - 14
6-114181660-GCG-TGT c.904_906delinsTGT p.A302C Missense 2/2 - 1
6-114181661-C-T c.905C>T p.A302V Missense 2/2 - 2
6-114181663-G-A c.907G>A p.A303T Missense 2/2 - 1
6-114181665-C-T c.909C>T p.A303= Synonymous 2/2 - 1
6-114181669-G-A c.913G>A p.A305T Missense 2/2 - 3
6-114181672-G-T c.916G>T p.A306S Missense 2/2 - 3
6-114181677-G-A c.921G>A p.S307= Synonymous 2/2 - 1
6-114181677-G-C c.921G>C p.S307= Synonymous 2/2 - 1
6-114181677-G-T c.921G>T p.S307= Synonymous 2/2 - 1
6-114181679-C-G c.923C>G p.S308* Nonsense 2/2 - 1
6-114181679-C-T c.923C>T p.S308L Missense 2/2 - 1
6-114181680-A-C c.924A>C p.S308= Synonymous 2/2 - 1
6-114181680-A-G c.924A>G p.S308= Synonymous 2/2 - 1
6-114181680-A-T c.924A>T p.S308= Synonymous 2/2 - 1
6-114181682-C-T c.926C>T p.A309V Missense 2/2 - 1
6-114181684-T-C c.928T>C p.C310R Missense 2/2 - 1
6-114181686-C-T c.930C>T p.C310= Synonymous 2/2 - 1
6-114181687-G-T c.931G>T p.A311S Missense 2/2 - 1
6-114181692-C-T c.936C>T p.A312= Synonymous 2/2 - 1
6-114181690-G-GC c.939dup p.S314Lfs*28 Frameshift 2/2 - 1
6-114181696-CT-C c.940del p.S314Hfs*55 Frameshift 2/2 - 2
6-114181697-C-T c.941C>T p.S314L Missense 2/2 - 2
6-114181699-C-T c.943C>T p.Q315* Nonsense 2/2 - 1
6-114181700-A-C c.944A>C p.Q315P Missense 2/2 - 1
6-114181701-G-C c.945G>C p.Q315H Missense 2/2 - 1
6-114181701-G-T c.945G>T p.Q315H Missense 2/2 - 1
6-114181712-C-A c.956C>A p.P319H Missense 2/2 - 1
6-114181714-G-T c.958G>T p.E320* Nonsense 2/2 - 1
6-114181717-TG-GA c.961_962delinsGA p.C321D Missense 2/2 - 1
6-114181717-TG-GT c.961_962delinsGT p.C321V Missense 2/2 - 1
6-114181718-G-T c.962G>T p.C321F Missense 2/2 - 1
6-114181721-G-A c.965G>A p.S322N Missense 2/2 - 1
6-114181724-C-T c.968C>T p.P323L Missense 2/2 - 1
6-114181727-A-C c.971A>C p.E324A Missense 2/2 - 1
6-114181728-A-C c.972A>C p.E324D Missense 2/2 - 1
6-114181728-A-G c.972A>G p.E324= Synonymous 2/2 - 1
6-114181731-C-A c.975C>A p.A325= Synonymous 2/2 - 1
6-114181731-C-G c.975C>G p.A325= Synonymous 2/2 - 1
6-114181731-C-T c.975C>T p.A325= Synonymous 2/2 - 1
6-114181732-C-T c.976C>T p.P326S Missense 2/2 - 1
6-114181733-C-G c.977C>G p.P326R Missense 2/2 - 1
6-114181729-GC-G c.980del p.P327Qfs*42 Frameshift 2/2 - 6
6-114181729-G-GC c.980dup p.A328Sfs*14 Frameshift 2/2 - 3
6-114181740-G-A c.984G>A p.A328= Synonymous 2/2 - 2
6-114181740-G-C c.984G>C p.A328= Synonymous 2/2 - 1
6-114181740-G-T c.984G>T p.A328= Synonymous 2/2 - 1
6-114181744-G-A c.988G>A p.A330T Missense 2/2 - 2
6-114181744-GC-CT c.988_989delinsCT p.A330L Missense 2/2 - 2
6-114181744-G-T c.988G>T p.A330S Missense 2/2 - 2
6-114181745-C-A c.989C>A p.A330E Missense 2/2 - 1
6-114181745-C-T c.989C>T p.A330V Missense 2/2 - 1
6-114181747-G-A c.991G>A p.A331T Missense 2/2 - 1
6-114181749-A-C c.993A>C p.A331= Synonymous 2/2 - 1
6-114181749-A-G c.993A>G p.A331= Synonymous 2/2 - 1
6-114181749-A-T c.993A>T p.A331= Synonymous 2/2 - 1
6-114181750-G-C c.994G>C p.E332Q Missense 2/2 - 1
6-114182108-A-G c.*353A>G - 3-UTRSNV 2/2 - 1
6-114182120-G-A c.*365G>A - 3-UTRSNV 2/2 - 1
6-114182120-G-T c.*365G>T - 3-UTRSNV 2/2 - 1
6-114182252-T-C c.*496T>C - 3_prime_UTR_variant 2/2 - 1
6-114182264-T-A c.*509T>A - 3-UTRSNV 2/2 - 3
6-114182264-T-G c.*509T>G - 3-UTRSNV 2/2 - 3
6-114182754-T-C c.*999T>C - 3-UTRSNV 2/2 - 1
6-114183590-C-CA c.*1836dup - 3-UTRInsertion 2/2 - 1
6-114183591-A-ACC c.*1836_*1837insCC - 3-UTRInsertion 2/2 - 1
6-114183591-A-ACCC c.*1836_*1837insCCC - 3-UTRInsertion 2/2 - 1
6-114183883-A-C c.*2128A>C - 3-UTRSNV 2/2 - 3
6-114183883-A-G c.*2128A>G - 3-UTRSNV 2/2 - 3
6-114184247-T-C c.*2492T>C - 3-UTRSNV 2/2 - 1