HLA-DPB1

HLA-DPB1 major histocompatibility complex, class II, DP beta 1

Annotation transcript: NM_002121.6

734 unique variant annotations were identified in 839 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
6-33043804-T-C c.-15T>C - 5-UTRSNV 1/6 - 1
6-33043824-G-C c.6G>C p.M2I Missense 1/6 - 1
6-33043828-C-T c.10C>T p.L4= Synonymous 1/6 - 2
6-33043830-G-A c.12G>A p.L4= Synonymous 1/6 - 2
6-33043830-G-C c.12G>C p.L4= Synonymous 1/6 - 2
6-33043830-G-T c.12G>T p.L4= Synonymous 1/6 - 3
6-33043838-C-T c.20C>T p.S7F Missense 1/6 - 1
6-33043841-C-T c.23C>T p.A8V Missense 1/6 - 2
6-33043842-G-A c.24G>A p.A8= Synonymous 1/6 - 1
6-33043843-G-C c.25G>C p.A9P Missense 1/6 - 4
6-33043843-G-GC c.31dup p.R11Pfs*38 Frameshift 1/6 - 1
6-33043849-C-A c.31C>A p.R11= Synonymous 1/6 - 2
6-33043849-C-T c.31C>T p.R11W Missense 1/6 - 1
6-33043851-G-A c.33G>A p.R11= Synonymous 1/6 - 1
6-33043851-G-C c.33G>C p.R11= Synonymous 1/6 - 1
6-33043851-G-T c.33G>T p.R11= Synonymous 1/6 - 1
6-33043853-CA-TG c.35_36inv p.T12M Missense 1/6 - 1
6-33043856-T-C c.38T>C p.V13A Missense 1/6 - 1
6-33043858-G-C c.40G>C p.A14P Missense 1/6 - 1
6-33043858-GC-AA c.40_41delinsAA p.A14N Missense 1/6 - 2
6-33043858-GC-CG c.40_41delinsCG p.A14R Missense 1/6 - 2
6-33043858-GCT-TGG c.40_42delinsTGG p.A14W Missense 1/6 - 1
6-33043859-C-T c.41C>T p.A14V Missense 1/6 - 1
6-33043863-G-A c.45G>A p.L15= Synonymous 1/6 - 1
6-33043864-A-G c.46A>G p.T16A Missense 1/6 - 1
6-33043865-C-A c.47C>A p.T16K Missense 1/6 - 2
6-33043865-C-CCT c.47_48insCT p.A17Wfs*4 Frameshift 1/6 - 1
6-33043865-C-T c.47C>T p.T16M Missense 1/6 - 3
6-33043867-G-A c.49G>A p.A17T Missense 1/6 - 6
6-33043867-GC-AG c.49_50delinsAG p.A17R Missense 1/6 - 1
6-33043867-GC-CA c.49_50delinsCA p.A17Q Missense 1/6 - 1
6-33043867-GCG-AAC c.49_51delinsAAC p.A17N Missense 1/6 - 2
6-33043867-GCG-TGT c.49_51delinsTGT p.A17C Missense 1/6 - 2
6-33043867-GC-TG c.49_50delinsTG p.A17W Missense 1/6 - 1
6-33043867-G-T c.49G>T p.A17S Missense 1/6 - 3
6-33043868-CG-AC c.50_51delinsAC p.A17D Missense 1/6 - 1
6-33043868-C-T c.50C>T p.A17V Missense 1/6 - 1
6-33043875-G-A c.57G>A p.L19= Synonymous 1/6 - 1
6-33043878-G-A c.60G>A p.M20I Missense 1/6 - 1
6-33043878-G-C c.60G>C p.M20I Missense 1/6 - 1
6-33043878-G-T c.60G>T p.M20I Missense 1/6 - 1
6-33043881-G-A c.63G>A p.V21= Synonymous 1/6 - 1
6-33043881-G-C c.63G>C p.V21= Synonymous 1/6 - 1
6-33043881-G-T c.63G>T p.V21= Synonymous 1/6 - 1
6-33043882-C-A c.64C>A p.L22M Missense 1/6 - 1
6-33043885-CT-GC c.67_68delinsGC p.L23A Missense 1/6 - 1
6-33043886-T-G c.68T>G p.L23R Missense 1/6 - 1
6-33043888-A-T c.70A>T p.T24S Missense 1/6 - 1
6-33043889-C-T c.71C>T p.T24I Missense 1/6 - 1
6-33043890-A-C c.72A>C p.T24= Synonymous 1/6 - 1
6-33043890-A-G c.72A>G p.T24= Synonymous 1/6 - 1
6-33043890-A-T c.72A>T p.T24= Synonymous 1/6 - 1
6-33043891-T-C c.73T>C p.S25P Missense 1/6 - 1
6-33043899-C-T c.81C>T p.V27= Synonymous 1/6 - 2
6-33043909-GC-CT c.91_92delinsCT p.A31L Missense 1/6 - 1
6-33043910-C-A c.92C>A p.A31D Missense 1/6 - 1
6-33043911-C-A c.93C>A p.A31= Synonymous 1/6 - 1
6-33043911-C-G c.93C>G p.A31= Synonymous 1/6 - 1
6-33043911-C-T c.93C>T p.A31= Synonymous 1/6 - 1
6-33043912-A-G c.94A>G p.T32A Missense 1/6 - 1
6-33043930-A-G c.100+12A>G - IntronicSNV - 1/5 16
6-33043990-G-A c.100+72G>A - IntronicSNV - 1/5 1
6-33044188-T-A c.100+270T>A - IntronicSNV - 1/5 2
6-33044257-T-C c.100+339T>C - IntronicSNV - 1/5 1
6-33044257-T-G c.100+339T>G - IntronicSNV - 1/5 1
6-33044388-T-C c.100+470T>C - IntronicSNV - 1/5 3
6-33044701-T-TTATA c.100+794_100+797dup - IntronicInsertion - 1/5 1
6-33044701-T-TTA c.100+796_100+797dup - IntronicInsertion - 1/5 1
6-33044956-T-C c.100+1038T>C - IntronicSNV - 1/5 1
6-33045147-A-T c.100+1229A>T - IntronicSNV - 1/5 1
6-33045208-T-C c.100+1290T>C - IntronicSNV - 1/5 1
6-33045255-T-C c.100+1337T>C - IntronicSNV - 1/5 1
6-33045272-C-A c.100+1354C>A - IntronicSNV - 1/5 3
6-33045500-T-C c.100+1582T>C - IntronicSNV - 1/5 1
6-33045530-T-C c.100+1612T>C - IntronicSNV - 1/5 1
6-33045558-G-A c.100+1640G>A - IntronicSNV - 1/5 20
6-33045659-T-C c.100+1741T>C - IntronicSNV - 1/5 1
6-33045698-G-A c.100+1780G>A - IntronicSNV - 1/5 2
6-33045735-C-T c.100+1817C>T - IntronicSNV - 1/5 1
6-33045770-G-A c.100+1852G>A - IntronicSNV - 1/5 1
6-33045773-G-T c.100+1855G>T - IntronicSNV - 1/5 1
6-33045823-A-G c.100+1905A>G - IntronicSNV - 1/5 1
6-33045835-A-G c.100+1917A>G - IntronicSNV - 1/5 1
6-33045838-G-A c.100+1920G>A - IntronicSNV - 1/5 2
6-33045839-C-T c.100+1921C>T - IntronicSNV - 1/5 1
6-33045891-C-G c.100+1973C>G - IntronicSNV - 1/5 1
6-33045891-C-T c.100+1973C>T - IntronicSNV - 1/5 1
6-33045896-A-G c.100+1978A>G - IntronicSNV - 1/5 1
6-33045966-G-A c.100+2048G>A - IntronicSNV - 1/5 1
6-33045982-G-A c.100+2064G>A - IntronicSNV - 1/5 1
6-33046082-C-T c.100+2164C>T - IntronicSNV - 1/5 1
6-33046651-G-A c.101-1798G>A - IntronicSNV - 1/5 1
6-33046662-T-C c.101-1787T>C - IntronicSNV - 1/5 2
6-33046742-T-C c.101-1707T>C - IntronicSNV - 1/5 2
6-33046752-G-A c.101-1697G>A - IntronicSNV - 1/5 1
6-33046752-G-C c.101-1697G>C - IntronicSNV - 1/5 1
6-33047031-T-C c.101-1418T>C - IntronicSNV - 1/5 10
6-33047432-A-C c.101-1017A>C - IntronicSNV - 1/5 1
6-33047466-T-C c.101-983T>C - IntronicSNV - 1/5 6
6-33047612-G-C c.101-837G>C - IntronicSNV - 1/5 11
6-33047898-C-A c.101-551C>A - IntronicSNV - 1/5 1
6-33048071-C-G c.101-378C>G - IntronicSNV - 1/5 1
6-33048102-C-T c.101-347C>T - IntronicSNV - 1/5 2
6-33048224-G-GCAGTGAGT c.101-224_101-223insAGTGAGTC - IntronicInsertion - 1/5 1
6-33048292-G-A c.101-157G>A - IntronicSNV - 1/5 1
6-33048292-G-C c.101-157G>C - IntronicSNV - 1/5 1
6-33048312-G-A c.101-137G>A - IntronicSNV - 1/5 1
6-33048340-C-T c.101-109C>T - IntronicSNV - 1/5 1
6-33048348-G-A c.101-101G>A - IntronicSNV - 1/5 4
6-33048354-A-C c.101-95A>C - IntronicSNV - 1/5 1
6-33048354-A-T c.101-95A>T - IntronicSNV - 1/5 1
6-33048371-G-C c.101-78G>C - IntronicSNV - 1/5 2
6-33048371-G-T c.101-78G>T - IntronicSNV - 1/5 2
6-33048380-G-A c.101-69G>A - IntronicSNV - 1/5 4
6-33048450-G-C c.102G>C p.E34D Missense 2/6 - 3
6-33048450-G-T c.102G>T p.E34D Missense 2/6 - 3
6-33048451-A-T c.103A>T p.N35Y Missense 2/6 - 1
6-33048454-T-C c.106T>C p.Y36H Missense 2/6 - 1
6-33048455-A-T c.107A>T p.Y36F Missense 2/6 - 1
6-33048456-C-A c.108C>A p.Y36* Nonsense 2/6 - 1
6-33048456-C-T c.108C>T p.Y36= Synonymous 2/6 - 1
6-33048457-C-G c.109C>G p.L37V Missense 2/6 - 22
6-33048457-CT-GC c.109_110delinsGC p.L37A Missense 2/6 - 1
6-33048457-CTTTT-GTGCA c.109_113delinsGTGCA p.L37_F38delinsVH MultiAAMissense 2/6 - 2
6-33048457-CTTTT-GTGTA c.109_113delinsGTGTA p.L37_F38delinsVY MultiAAMissense 2/6 - 1
6-33048459-T-A c.111T>A p.L37= Synonymous 2/6 - 3
6-33048459-T-C c.111T>C p.L37= Synonymous 2/6 - 3
6-33048459-T-G c.111T>G p.L37= Synonymous 2/6 - 12
6-33048460-T-C c.112T>C p.F38L Missense 2/6 - 6
6-33048460-T-G c.112T>G p.F38V Missense 2/6 - 2
6-33048460-TT-CA c.112_113delinsCA p.F38H Missense 2/6 - 1
6-33048461-T-A c.113T>A p.F38Y Missense 2/6 - 19
6-33048462-C-T c.114C>T p.F38= Synonymous 2/6 - 1
6-33048464-A-G c.116A>G p.Q39R Missense 2/6 - 1
6-33048464-A-T c.116A>T p.Q39L Missense 2/6 - 1
6-33048466-GG-CT c.118_119delinsCT p.G40L Missense 2/6 - 3
6-33048466-GG-TT c.118_119delinsTT p.G40L Missense 2/6 - 2
6-33048466-G-T c.118G>T p.G40* Nonsense 2/6 - 17
6-33048467-G-T c.119G>T p.G40V Missense 2/6 - 20
6-33048468-A-C c.120A>C p.G40= Synonymous 2/6 - 1
6-33048468-A-G c.120A>G p.G40= Synonymous 2/6 - 1
6-33048468-A-T c.120A>T p.G40= Synonymous 2/6 - 1
6-33048470-G-C c.122G>C p.R41P Missense 2/6 - 1
6-33048470-G-T c.122G>T p.R41L Missense 2/6 - 1
6-33048478-T-C c.130T>C p.C44R Missense 2/6 - 1
6-33048480-C-T c.132C>T p.C44= Synonymous 2/6 - 2
6-33048483-C-T c.135C>T p.Y45= Synonymous 2/6 - 1
6-33048484-G-A c.136G>A p.A46T Missense 2/6 - 2
6-33048484-G-C c.136G>C p.A46P Missense 2/6 - 2
6-33048484-GC-AA c.136_137delinsAA p.A46K Missense 2/6 - 1
6-33048484-GC-CT c.136_137delinsCT p.A46L Missense 2/6 - 1
6-33048484-GCG-TAT c.136_138delinsTAT p.A46Y Missense 2/6 - 1
6-33048485-CG-AC c.137_138delinsAC p.A46D Missense 2/6 - 1
6-33048485-C-T c.137C>T p.A46V Missense 2/6 - 2
6-33048492-T-C c.144T>C p.N48= Synonymous 2/6 - 1
6-33048497-C-A c.149C>A p.T50K Missense 2/6 - 1
6-33048501-G-C c.153G>C p.Q51H Missense 2/6 - 1
6-33048503-G-A c.155G>A p.R52H Missense 2/6 - 2
6-33048504-C-G c.156C>G p.R52= Synonymous 2/6 - 1
6-33048511-G-A c.163G>A p.E55K Missense 2/6 - 1
6-33048513-G-A c.165G>A p.E55= Synonymous 2/6 - 1
6-33048514-A-G c.166A>G p.R56G Missense 2/6 - 1
6-33048517-TA-CT c.169_170delinsCT p.Y57L Missense 2/6 - 1
6-33048517-T-C c.169T>C p.Y57H Missense 2/6 - 3
6-33048517-T-G c.169T>G p.Y57D Missense 2/6 - 1
6-33048520-A-T c.172A>T p.I58F Missense 2/6 - 2
6-33048523-T-C c.175T>C p.Y59H Missense 2/6 - 3
6-33048525-C-T c.177C>T p.Y59= Synonymous 2/6 - 2
6-33048526-A-C c.178A>C p.N60H Missense 2/6 - 1
6-33048525-C-CA c.179dup p.N60Kfs*66 Frameshift 2/6 - 1
6-33048528-C-T c.180C>T p.N60= Synonymous 2/6 - 1
6-33048529-C-T c.181C>T p.R61W Missense 2/6 - 2
6-33048530-G-A c.182G>A p.R61Q Missense 2/6 - 3
6-33048530-G-C c.182G>C p.R61P Missense 2/6 - 1
6-33048530-G-T c.182G>T p.R61L Missense 2/6 - 1
6-33048531-G-A c.183G>A p.R61= Synonymous 2/6 - 1
6-33048532-G-C c.184G>C p.E62Q Missense 2/6 - 8
6-33048534-G-A c.186G>A p.E62= Synonymous 2/6 - 1
6-33048534-G-C c.186G>C p.E62D Missense 2/6 - 1
6-33048535-G-C c.187G>C p.E63Q Missense 2/6 - 1
6-33048537-G-C c.189G>C p.E63D Missense 2/6 - 1
6-33048538-T-A c.190T>A p.F64I Missense 2/6 - 1
6-33048538-T-C c.190T>C p.F64L Missense 2/6 - 12
6-33048538-TT-CA c.190_191delinsCA p.F64H Missense 2/6 - 1
6-33048540-C-G c.192C>G p.F64L Missense 2/6 - 2
6-33048539-T-A c.191T>A p.F64Y Missense 2/6 - 16
6-33048540-C-A c.192C>A p.F64L Missense 2/6 - 3
6-33048541-GC-AG c.193_194delinsAG p.A65R Missense 2/6 - 1
6-33048541-GC-TA c.193_194delinsTA p.A65* Nonsense 2/6 - 1
6-33048541-G-T c.193G>T p.A65S Missense 2/6 - 1
6-33048542-C-T c.194C>T p.A65V Missense 2/6 - 26
6-33048543-G-A c.195G>A p.A65= Synonymous 2/6 - 3
6-33048543-G-C c.195G>C p.A65= Synonymous 2/6 - 3
6-33048543-G-T c.195G>T p.A65= Synonymous 2/6 - 3
6-33048544-C-T c.196C>T p.R66C Missense 2/6 - 1
6-33048547-T-C c.199T>C p.F67L Missense 2/6 - 1
6-33048548-T-A c.200T>A p.F67Y Missense 2/6 - 1
6-33048548-T-C c.200T>C p.F67S Missense 2/6 - 1
6-33048549-C-T c.201C>T p.F67= Synonymous 2/6 - 1
6-33048550-G-C c.202G>C p.D68H Missense 2/6 - 2
6-33048562-G-C c.214G>C p.G72R Missense 2/6 - 1
6-33048562-GG-TA c.214_215delinsTA p.G72* Nonsense 2/6 - 1
6-33048562-G-T c.214G>T p.G72W Missense 2/6 - 1
6-33048564-G-A c.216G>A p.G72= Synonymous 2/6 - 3
6-33048560-T-TG c.217dup p.E73Gfs*53 Frameshift 2/6 - 1
6-33048569-T-A c.221T>A p.F74Y Missense 2/6 - 4
6-33048569-T-G c.221T>G p.F74C Missense 2/6 - 1
6-33048570-C-T c.222C>T p.F74= Synonymous 2/6 - 3
6-33048575-C-T c.227C>T p.A76V Missense 2/6 - 1
6-33048576-G-A c.228G>A p.A76= Synonymous 2/6 - 1
6-33048576-G-C c.228G>C p.A76= Synonymous 2/6 - 1
6-33048576-G-T c.228G>T p.A76= Synonymous 2/6 - 1
6-33048581-C-G c.233C>G p.T78R Missense 2/6 - 2
6-33048583-GA-CT c.235_236delinsCT p.E79L Missense 2/6 - 1
6-33048588-G-A c.240G>A p.L80= Synonymous 2/6 - 1
6-33048592-C-T c.244C>T p.R82W Missense 2/6 - 4
6-33048593-G-T c.245G>T p.R82L Missense 2/6 - 1
6-33048598-G-A c.250G>A p.A84T Missense 2/6 - 1
6-33048599-C-A c.251C>A p.A84D Missense 2/6 - 28
6-33048599-C-G c.251C>G p.A84G Missense 2/6 - 6
6-33048599-C-T c.251C>T p.A84V Missense 2/6 - 6
6-33048599-CT-AG c.251_252inv p.A84E Missense 2/6 - 3
6-33048599-CT-TC c.251_252delinsTC p.A84V Missense 2/6 - 1
6-33048600-T-A c.252T>A p.A84= Synonymous 2/6 - 2
6-33048600-T-C c.252T>C p.A84= Synonymous 2/6 - 6
6-33048600-T-G c.252T>G p.A84= Synonymous 2/6 - 7
6-33048602-C-A c.254C>A p.A85E Missense 2/6 - 28
6-33048602-C-T c.254C>T p.A85V Missense 2/6 - 5
6-33048603-G-A c.255G>A p.A85= Synonymous 2/6 - 5
6-33048603-G-C c.255G>C p.A85= Synonymous 2/6 - 6
6-33048603-G-T c.255G>T p.A85= Synonymous 2/6 - 4
6-33048604-G-C c.256G>C p.E86Q Missense 2/6 - 1
6-33048605-A-C c.257A>C p.E86A Missense 2/6 - 1
6-33048605-A-T c.257A>T p.E86V Missense 2/6 - 1
6-33048606-G-A c.258G>A p.E86= Synonymous 2/6 - 1
6-33048606-G-C c.258G>C p.E86D Missense 2/6 - 14
6-33048606-G-T c.258G>T p.E86D Missense 2/6 - 4
6-33048607-T-C c.259T>C p.Y87H Missense 2/6 - 4
6-33048608-A-C c.260A>C p.Y87S Missense 2/6 - 1
6-33048612-G-C c.264G>C p.W88C Missense 2/6 - 1
6-33048612-G-T c.264G>T p.W88C Missense 2/6 - 1
6-33048613-A-C c.265A>C p.N89H Missense 2/6 - 1
6-33048612-GA-G c.266del p.N89Tfs*28 Frameshift 2/6 - 1
6-33048615-C-T c.267C>T p.N89= Synonymous 2/6 - 1
6-33048623-A-G c.275A>G p.K92R Missense 2/6 - 1
6-33048624-G-C c.276G>C p.K92N Missense 2/6 - 1
6-33048624-G-T c.276G>T p.K92N Missense 2/6 - 1
6-33048625-G-C c.277G>C p.D93H Missense 2/6 - 1
6-33048628-A-C c.280A>C p.I94L Missense 2/6 - 26
6-33048628-A-T c.280A>T p.I94F Missense 2/6 - 10
6-33048629-T-A c.281T>A p.I94N Missense 2/6 - 1
6-33048630-C-A c.282C>A p.I94= Synonymous 2/6 - 1
6-33048630-C-G c.282C>G p.I94M Missense 2/6 - 1
6-33048630-C-T c.282C>T p.I94= Synonymous 2/6 - 2
6-33048631-C-T c.283C>T p.L95= Synonymous 2/6 - 1
6-33048637-GA-AG c.289_290delinsAG p.E97R Missense 2/6 - 1
6-33048637-G-C c.289G>C p.E97Q Missense 2/6 - 4
6-33048638-A-C c.290A>C p.E97A Missense 2/6 - 1
6-33048639-G-C c.291G>C p.E97D Missense 2/6 - 1
6-33048640-A-C c.292A>C p.K98Q Missense 2/6 - 5
6-33048640-A-G c.292A>G p.K98E Missense 2/6 - 26
6-33048640-A-T c.292A>T p.K98* Nonsense 2/6 - 5
6-33048641-A-G c.293A>G p.K98R Missense 2/6 - 11
6-33048642-G-A c.294G>A p.K98= Synonymous 2/6 - 4
6-33048643-C-T c.295C>T p.R99W Missense 2/6 - 1
6-33048646-G-A c.298G>A p.A100T Missense 2/6 - 2
6-33048648-A-G c.300A>G p.A100= Synonymous 2/6 - 2
6-33048649-G-A c.301G>A p.V101M Missense 2/6 - 1
6-33048649-G-T c.301G>T p.V101L Missense 2/6 - 2
6-33048650-T-C c.302T>C p.V101A Missense 2/6 - 2
6-33048652-CC-GT c.304_305delinsGT p.P102V Missense 2/6 - 2
6-33048652-C-T c.304C>T p.P102S Missense 2/6 - 1
6-33048653-C-T c.305C>T p.P102L Missense 2/6 - 1
6-33048661-A-G c.313A>G p.M105V Missense 2/6 - 39
6-33048662-T-C c.314T>C p.M105T Missense 2/6 - 1
6-33048663-G-A c.315G>A p.M105I Missense 2/6 - 25
6-33048663-G-C c.315G>C p.M105I Missense 2/6 - 6
6-33048663-G-T c.315G>T p.M105I Missense 2/6 - 5
6-33048664-TG-GC c.316_317delinsGC p.C106A Missense 2/6 - 1
6-33048666-C-T c.318C>T p.C106= Synonymous 2/6 - 2
6-33048679-G-C c.331G>C p.E111Q Missense 2/6 - 1
6-33048680-A-G c.332A>G p.E111G Missense 2/6 - 1
6-33048682-C-T c.334C>T p.L112= Synonymous 2/6 - 1
6-33048684-G-A c.336G>A p.L112= Synonymous 2/6 - 1
6-33048685-G-GA c.337_338insA p.G113Efs*13 Frameshift 2/6 - 1
6-33048685-GG-AA c.337_338delinsAA p.G113N Missense 2/6 - 1
6-33048686-G-A c.338G>A p.G113D Missense 2/6 - 31
6-33048686-GC-AG c.338_339delinsAG p.G113E Missense 2/6 - 1
6-33048686-G-T c.338G>T p.G113V Missense 2/6 - 18
6-33048687-C-A c.339C>A p.G113= Synonymous 2/6 - 1
6-33048687-C-G c.339C>G p.G113= Synonymous 2/6 - 1
6-33048687-C-T c.339C>T p.G113= Synonymous 2/6 - 1
6-33048688-G-GA c.340_341insA p.G114Efs*12 Frameshift 2/6 - 9
6-33048689-G-A c.341G>A p.G114E Missense 2/6 - 20
6-33048690-G-A c.342G>A p.G114= Synonymous 2/6 - 1
6-33048690-G-C c.342G>C p.G114= Synonymous 2/6 - 1
6-33048690-G-T c.342G>T p.G114= Synonymous 2/6 - 1
6-33048691-C-G c.343C>G p.P115A Missense 2/6 - 23
6-33048691-C-T c.343C>T p.P115S Missense 2/6 - 1
6-33048692-C-G c.344C>G p.P115R Missense 2/6 - 1
6-33048693-C-A c.345C>A p.P115= Synonymous 2/6 - 1
6-33048693-C-G c.345C>G p.P115= Synonymous 2/6 - 1
6-33048693-C-T c.345C>T p.P115= Synonymous 2/6 - 1
6-33048694-A-G c.346A>G p.M116V Missense 2/6 - 23
6-33048695-T-C c.347T>C p.M116T Missense 2/6 - 1
6-33048698-C-T c.350C>T p.T117I Missense 2/6 - 1
6-33048700-C-T c.352C>T p.L118= Synonymous 2/6 - 1
6-33048707-G-A c.359G>A p.R120H Missense 2/6 - 1
6-33048708-C-G c.360C>G p.R120= Synonymous 2/6 - 1
6-33048709-CGA-TGT c.361_363delinsTGT p.R121C Missense 2/6 - 1
6-33048709-C-T c.361C>T p.R121* Nonsense 2/6 - 1
6-33048735-C-A c.364+23C>A - IntronicSNV - 2/5 2
6-33048735-C-G c.364+23C>G - IntronicSNV - 2/5 3
6-33048736-G-T c.364+24G>T - IntronicSNV - 2/5 1
6-33048754-C-T c.364+42C>T - IntronicSNV - 2/5 1
6-33048809-C-T c.364+97C>T - IntronicSNV - 2/5 1
6-33048810-G-A c.364+98G>A - IntronicSNV - 2/5 1
6-33048811-G-A c.364+99G>A - IntronicSNV - 2/5 1
6-33048841-A-AT c.364+130dup - IntronicInsertion - 2/5 1
6-33048844-G-C c.364+132G>C - IntronicSNV - 2/5 1
6-33048844-G-T c.364+132G>T - IntronicSNV - 2/5 1
6-33048921-A-G c.364+209A>G - IntronicSNV - 2/5 11
6-33048937-C-G c.364+225C>G - IntronicSNV - 2/5 2
6-33048937-C-T c.364+225C>T - IntronicSNV - 2/5 1
6-33049211-C-T c.364+499C>T - IntronicSNV - 2/5 3
6-33049309-A-G c.364+597A>G - IntronicSNV - 2/5 1
6-33049384-A-G c.364+672A>G - IntronicSNV - 2/5 1
6-33049663-A-G c.364+951A>G - IntronicSNV - 2/5 1
6-33049694-C-T c.364+982C>T - IntronicSNV - 2/5 2
6-33049726-G-T c.364+1014G>T - IntronicSNV - 2/5 3
6-33049979-A-G c.364+1267A>G - IntronicSNV - 2/5 6
6-33049983-C-T c.364+1271C>T - IntronicSNV - 2/5 2
6-33050024-C-A c.364+1312C>A - IntronicSNV - 2/5 2
6-33050024-C-T c.364+1312C>T - IntronicSNV - 2/5 2
6-33050045-T-C c.364+1333T>C - IntronicSNV - 2/5 2
6-33050107-G-A c.364+1395G>A - IntronicSNV - 2/5 2
6-33050179-A-G c.364+1467A>G - IntronicSNV - 2/5 1
6-33050223-G-A c.364+1511G>A - IntronicSNV - 2/5 2
6-33050279-A-G c.364+1567A>G - IntronicSNV - 2/5 28
6-33050325-A-C c.364+1613A>C - IntronicSNV - 2/5 3
6-33050394-G-A c.364+1682G>A - IntronicSNV - 2/5 1
6-33050463-C-G c.364+1751C>G - IntronicSNV - 2/5 3
6-33050473-A-G c.364+1761A>G - IntronicSNV - 2/5 2
6-33050499-A-G c.364+1787A>G - IntronicSNV - 2/5 3
6-33050526-C-T c.364+1814C>T - IntronicSNV - 2/5 2
6-33050683-A-C c.364+1971A>C - IntronicSNV - 2/5 2
6-33050683-A-G c.364+1971A>G - IntronicSNV - 2/5 2
6-33050742-G-A c.365-1985G>A - IntronicSNV - 2/5 2
6-33050877-A-G c.365-1850A>G - IntronicSNV - 2/5 2
6-33050970-A-T c.365-1757A>T - IntronicSNV - 2/5 1
6-33051139-G-A c.365-1588G>A - IntronicSNV - 2/5 3
6-33051640-G-A c.365-1087G>A - IntronicSNV - 2/5 3
6-33051683-C-G c.365-1044C>G - IntronicSNV - 2/5 1
6-33051683-C-T c.365-1044C>T - IntronicSNV - 2/5 1
6-33051820-G-A c.365-907G>A - IntronicSNV - 2/5 2
6-33051865-A-C c.365-862A>C - IntronicSNV - 2/5 2
6-33051910-C-A c.365-817C>A - IntronicSNV - 2/5 2
6-33051910-C-G c.365-817C>G - IntronicSNV - 2/5 2
6-33052186-A-G c.365-541A>G - IntronicSNV - 2/5 1
6-33052186-A-T c.365-541A>T - IntronicSNV - 2/5 1
6-33052250-A-G c.365-477A>G - IntronicSNV - 2/5 3
6-33052382-G-C c.365-345G>C - IntronicSNV - 2/5 1
6-33052382-G-T c.365-345G>T - IntronicSNV - 2/5 1
6-33052414-A-G c.365-313A>G - IntronicSNV - 2/5 2
6-33052439-A-G c.365-288A>G - IntronicSNV - 2/5 2
6-33052492-G-C c.365-235G>C - IntronicSNV - 2/5 1
6-33052498-G-C c.365-229G>C - IntronicSNV - 2/5 1
6-33052502-G-A c.365-225G>A - IntronicSNV - 2/5 1
6-33052502-G-T c.365-225G>T - IntronicSNV - 2/5 1
6-33052562-T-C c.365-165T>C - IntronicSNV - 2/5 1
6-33052572-T-A c.365-155T>A - IntronicSNV - 2/5 1
6-33052572-T-C c.365-155T>C - IntronicSNV - 2/5 1
6-33052615-T-C c.365-112T>C - IntronicSNV - 2/5 2
6-33052677-A-G c.365-50A>G - IntronicSNV - 2/5 1
6-33052695-T-G c.365-32T>G - IntronicSNV - 2/5 3
6-33052711-T-C c.365-16T>C - IntronicSNV - 2/5 3
6-33052717-A-C c.365-10A>C - IntronicSNV - 2/5 3
6-33052719-G-A c.365-8G>A - IntronicSNV - 2/5 4
6-33052719-G-C c.365-8G>C - IntronicSNV - 2/5 4
6-33052723-C-G c.365-4C>G - IntronicSNV - 2/5 5
6-33052732-C-G c.370C>G p.P124A Missense 3/6 - 1
6-33052736-G-A c.374G>A p.R125K Missense 3/6 - 18
6-33052735-A-C c.373A>C p.R125= Synonymous 3/6 - 1
6-33052737-G-A c.375G>A p.R125= Synonymous 3/6 - 1
6-33052738-G-A c.376G>A p.V126M Missense 3/6 - 2
6-33052743-T-C c.381T>C p.N127= Synonymous 3/6 - 12
6-33052748-C-T c.386C>T p.S129F Missense 3/6 - 1
6-33052751-C-T c.389C>T p.P130L Missense 3/6 - 5
6-33052754-C-T c.392C>T p.S131F Missense 3/6 - 2
6-33052758-G-A c.396G>A p.K132= Synonymous 3/6 - 1
6-33052763-G-A c.401G>A p.G134E Missense 3/6 - 1
6-33052763-G-C c.401G>C p.G134A Missense 3/6 - 2
6-33052764-G-A c.402G>A p.G134= Synonymous 3/6 - 1
6-33052764-G-C c.402G>C p.G134= Synonymous 3/6 - 1
6-33052764-G-T c.402G>T p.G134= Synonymous 3/6 - 1
6-33052765-C-T c.403C>T p.P135S Missense 3/6 - 1
6-33052768-T-A c.406T>A p.L136M Missense 3/6 - 3
6-33052768-T-C c.406T>C p.L136= Synonymous 3/6 - 14
6-33052768-T-G c.406T>G p.L136V Missense 3/6 - 3
6-33052770-G-A c.408G>A p.L136= Synonymous 3/6 - 2
6-33052771-C-G c.409C>G p.Q137E Missense 3/6 - 1
6-33052778-A-G c.416A>G p.H139R Missense 3/6 - 1
6-33052779-C-A c.417C>A p.H139Q Missense 3/6 - 1
6-33052779-C-G c.417C>G p.H139Q Missense 3/6 - 1
6-33052783-C-T c.421C>T p.L141= Synonymous 3/6 - 3
6-33052789-GTC-ATG c.427_429delinsATG p.V143M Missense 3/6 - 1
6-33052794-C-T c.432C>T p.C144= Synonymous 3/6 - 1
6-33052798-G-GCTCCTAGTCCAGCCTAGGGTGAATGT c.436_437insCTCCTAGTCCAGCCTAGGGTGAATGT p.V146Afs*6 Frameshift 3/6 - 1
6-33052799-TGACG-CACCTAGCCCTGCATAA c.437_441delinsCACCTAGCCCTGCATAA p.V146_T147delinsAPSPA* MultiAAMissense 3/6 - 1
6-33052801-A-G c.439A>G p.T147A Missense 3/6 - 1
6-33052802-C-T c.440C>T p.T147M Missense 3/6 - 2
6-33052803-G-A c.441G>A p.T147= Synonymous 3/6 - 13
6-33052803-G-C c.441G>C p.T147= Synonymous 3/6 - 4
6-33052803-G-T c.441G>T p.T147= Synonymous 3/6 - 4
6-33052806-T-A c.444T>A p.D148E Missense 3/6 - 1
6-33052806-T-G c.444T>G p.D148E Missense 3/6 - 1
6-33052820-G-A c.458G>A p.S153N Missense 3/6 - 1
6-33052820-G-C c.458G>C p.S153T Missense 3/6 - 1
6-33052830-C-T c.468C>T p.V156= Synonymous 3/6 - 4
6-33052831-C-T c.469C>T p.R157* Nonsense 3/6 - 1
6-33052832-G-A c.470G>A p.R157Q Missense 3/6 - 1
6-33052833-A-G c.471A>G p.R157= Synonymous 3/6 - 1
6-33052838-T-G c.476T>G p.F159C Missense 3/6 - 1
6-33052842-G-A c.480G>A p.L160= Synonymous 3/6 - 1
6-33052844-A-G c.482A>G p.N161S Missense 3/6 - 1
6-33052845-T-C c.483T>C p.N161= Synonymous 3/6 - 1
6-33052851-G-A c.489G>A p.Q163= Synonymous 3/6 - 1
6-33052852-G-T c.490G>T p.E164* Nonsense 3/6 - 1
6-33052869-C-T c.507C>T p.V169= Synonymous 3/6 - 3
6-33052870-G-A c.508G>A p.V170M Missense 3/6 - 1
6-33052871-T-G c.509T>G p.V170G Missense 3/6 - 2
6-33052874-C-T c.512C>T p.S171F Missense 3/6 - 1
6-33052876-AC-TG c.514_515delinsTG p.T172C Missense 3/6 - 1
6-33052881-C-A c.519C>A p.N173K Missense 3/6 - 1
6-33052881-C-G c.519C>G p.N173K Missense 3/6 - 1
6-33052883-T-A c.521T>A p.L174Q Missense 3/6 - 1
6-33052882-C-T c.520C>T p.L174= Synonymous 3/6 - 1
6-33052884-G-A c.522G>A p.L174= Synonymous 3/6 - 2
6-33052884-G-C c.522G>C p.L174= Synonymous 3/6 - 1
6-33052884-G-T c.522G>T p.L174= Synonymous 3/6 - 1
6-33052887-C-A c.525C>A p.I175= Synonymous 3/6 - 4
6-33052887-C-T c.525C>T p.I175= Synonymous 3/6 - 3
6-33052888-C-T c.526C>T p.R176C Missense 3/6 - 1
6-33052889-G-A c.527G>A p.R176H Missense 3/6 - 2
6-33052895-G-C c.533G>C p.G178A Missense 3/6 - 1
6-33052903-AC-GG c.541_542delinsGG p.T181G Missense 3/6 - 1
6-33052904-C-T c.542C>T p.T181I Missense 3/6 - 2
6-33052912-A-G c.550A>G p.I184V Missense 3/6 - 3
6-33052914-C-T c.552C>T p.I184= Synonymous 3/6 - 3
6-33052919-T-A c.557T>A p.V186E Missense 3/6 - 1
6-33052919-T-G c.557T>G p.V186G Missense 3/6 - 4
6-33052922-T-G c.560T>G p.M187R Missense 3/6 - 1
6-33052924-C-A c.562C>A p.L188M Missense 3/6 - 1
6-33052926-G-T c.564G>T p.L188= Synonymous 3/6 - 2
6-33052932-G-A c.570G>A p.M190I Missense 3/6 - 1
6-33052932-G-C c.570G>C p.M190I Missense 3/6 - 1
6-33052932-G-T c.570G>T p.M190I Missense 3/6 - 1
6-33052933-A-G c.571A>G p.T191A Missense 3/6 - 1
6-33052937-C-T c.575C>T p.P192L Missense 3/6 - 2
6-33052933-A-AC c.577dup p.Q193Pfs*17 Frameshift 3/6 - 1
6-33052933-AC-A c.577del p.Q193Sfs*35 Frameshift 3/6 - 3
6-33052940-A-G c.578A>G p.Q193R Missense 3/6 - 1
6-33052941-G-C c.579G>C p.Q193H Missense 3/6 - 1
6-33052941-G-T c.579G>T p.Q193H Missense 3/6 - 1
6-33052945-G-T c.583G>T p.G195* Nonsense 3/6 - 1
6-33052946-G-A c.584G>A p.G195E Missense 3/6 - 2
6-33052950-T-C c.588T>C p.D196= Synonymous 3/6 - 17
6-33052955-A-T c.593A>T p.Y198F Missense 3/6 - 1
6-33052956-C-T c.594C>T p.Y198= Synonymous 3/6 - 1
6-33052957-A-G c.595A>G p.T199A Missense 3/6 - 1
6-33052958-C-A c.596C>A p.T199N Missense 3/6 - 7
6-33052958-C-T c.596C>T p.T199I Missense 3/6 - 25
6-33052959-C-A c.597C>A p.T199= Synonymous 3/6 - 1
6-33052959-C-G c.597C>G p.T199= Synonymous 3/6 - 1
6-33052959-C-T c.597C>T p.T199= Synonymous 3/6 - 1
6-33052961-G-A c.599G>A p.C200Y Missense 3/6 - 1
6-33052962-C-T c.600C>T p.C200= Synonymous 3/6 - 1
6-33052969-G-A c.607G>A p.E203K Missense 3/6 - 1
6-33052978-A-C c.616A>C p.S206R Missense 3/6 - 1
6-33052980-C-A c.618C>A p.S206R Missense 3/6 - 1
6-33052980-C-G c.618C>G p.S206R Missense 3/6 - 1
6-33052981-C-A c.619C>A p.L207M Missense 3/6 - 13
6-33052981-C-T c.619C>T p.L207= Synonymous 3/6 - 7
6-33052983-G-A c.621G>A p.L207= Synonymous 3/6 - 2
6-33052983-G-C c.621G>C p.L207= Synonymous 3/6 - 2
6-33052983-G-T c.621G>T p.L207= Synonymous 3/6 - 2
6-33052986-T-C c.624T>C p.D208= Synonymous 3/6 - 17
6-33052988-G-A c.626G>A p.S209N Missense 3/6 - 1
6-33052994-T-C c.632T>C p.V211A Missense 3/6 - 2
6-33052997-C-T c.635C>T p.T212I Missense 3/6 - 2
6-33052998-C-A c.636C>A p.T212= Synonymous 3/6 - 3
6-33052998-C-G c.636C>G p.T212= Synonymous 3/6 - 3
6-33052998-C-T c.636C>T p.T212= Synonymous 3/6 - 5
6-33052999-G-A c.637G>A p.V213M Missense 3/6 - 1
6-33053006-G-A c.644G>A p.W215* Nonsense 3/6 - 1
6-33053007-G-A c.645G>A p.W215* Nonsense 3/6 - 1
6-33053010-T-C c.646+2T>C - IntronicSNV - 3/5 1
6-33053026-C-A c.646+18C>A - IntronicSNV - 3/5 3
6-33053026-C-G c.646+18C>G - IntronicSNV - 3/5 4
6-33053060-C-T c.646+52C>T - IntronicSNV - 3/5 1
6-33053080-T-C c.646+72T>C - IntronicSNV - 3/5 1
6-33053092-C-T c.646+84C>T - IntronicSNV - 3/5 1
6-33053121-C-T c.646+113C>T - IntronicSNV - 3/5 1
6-33053167-A-C c.646+159A>C - IntronicSNV - 3/5 2
6-33053167-A-T c.646+159A>T - IntronicSNV - 3/5 1
6-33053248-A-G c.646+240A>G - IntronicSNV - 3/5 2
6-33053252-G-A c.646+244G>A - IntronicSNV - 3/5 2
6-33053270-T-A c.646+262T>A - IntronicSNV - 3/5 1
6-33053271-T-C c.646+263T>C - IntronicSNV - 3/5 4
6-33053307-C-T c.647-249C>T - IntronicSNV - 3/5 1
6-33053352-C-T c.647-204C>T - IntronicSNV - 3/5 9
6-33053396-A-G c.647-160A>G - IntronicSNV - 3/5 2
6-33053399-T-A c.647-157T>A - IntronicSNV - 3/5 2
6-33053399-T-C c.647-157T>C - IntronicSNV - 3/5 2
6-33053444-G-A c.647-112G>A - IntronicSNV - 3/5 2
6-33053444-G-C c.647-112G>C - IntronicSNV - 3/5 2
6-33053455-C-T c.647-101C>T - IntronicSNV - 3/5 1
6-33053468-G-T c.647-88G>T - IntronicSNV - 3/5 4
6-33053477-G-C c.647-79G>C - IntronicSNV - 3/5 1
6-33053477-G-T c.647-79G>T - IntronicSNV - 3/5 1
6-33053561-C-T c.652C>T p.Q218* Nonsense 4/6 - 2
6-33053564-TC-CG c.655_656delinsCG p.S219R Missense 4/6 - 1
6-33053564-TC-GG c.655_656delinsGG p.S219G Missense 4/6 - 1
6-33053574-C-T c.665C>T p.A222V Missense 4/6 - 1
6-33053576-C-A c.667C>A p.R223= Synonymous 4/6 - 1
6-33053576-C-T c.667C>T p.R223W Missense 4/6 - 2
6-33053578-G-A c.669G>A p.R223= Synonymous 4/6 - 1
6-33053578-G-C c.669G>C p.R223= Synonymous 4/6 - 1
6-33053578-G-T c.669G>T p.R223= Synonymous 4/6 - 1
6-33053577-G-A c.668G>A p.R223Q Missense 4/6 - 12
6-33053577-G-C c.668G>C p.R223P Missense 4/6 - 4
6-33053577-G-T c.668G>T p.R223L Missense 4/6 - 4
6-33053586-C-T c.677C>T p.T226I Missense 4/6 - 1
6-33053590-G-A c.681G>A p.L227= Synonymous 4/6 - 1
6-33053592-C-T c.683C>T p.T228M Missense 4/6 - 3
6-33053593-G-A c.684G>A p.T228= Synonymous 4/6 - 2
6-33053593-G-C c.684G>C p.T228= Synonymous 4/6 - 1
6-33053593-G-T c.684G>T p.T228= Synonymous 4/6 - 1
6-33053597-G-A c.688G>A p.A230T Missense 4/6 - 1
6-33053603-G-T c.694G>T p.G232C Missense 4/6 - 1
6-33053608-C-T c.699C>T p.F233= Synonymous 4/6 - 3
6-33053609-G-A c.700G>A p.V234M Missense 4/6 - 16
6-33053611-G-A c.702G>A p.V234= Synonymous 4/6 - 1
6-33053611-G-C c.702G>C p.V234= Synonymous 4/6 - 1
6-33053611-G-T c.702G>T p.V234= Synonymous 4/6 - 1
6-33053612-C-T c.703C>T p.L235= Synonymous 4/6 - 1
6-33053615-G-A c.706G>A p.G236R Missense 4/6 - 2
6-33053616-G-A c.707G>A p.G236E Missense 4/6 - 1
6-33053622-T-A c.713T>A p.I238N Missense 4/6 - 1
6-33053640-T-A c.731T>A p.I244N Missense 4/6 - 2
6-33053640-T-C c.731T>C p.I244T Missense 4/6 - 6
6-33053651-A-G c.742A>G p.R248G Missense 4/6 - 1
6-33053651-A-T c.742A>T p.R248W Missense 4/6 - 1
6-33053652-G-A c.743G>A p.R248K Missense 4/6 - 3
6-33053654-A-G c.745A>G p.R249G Missense 4/6 - 1
6-33053654-AGG-CAT c.745_747delinsCAT p.R249H Missense 4/6 - 2
6-33053655-G-A c.746G>A p.R249K Missense 4/6 - 1
6-33053655-G-T c.746G>T p.R249M Missense 4/6 - 1
6-33053654-A-C c.745A>C p.R249= Synonymous 4/6 - 1
6-33053656-G-A c.747G>A p.R249= Synonymous 4/6 - 1
6-33053656-G-C c.747G>C p.R249S Missense 4/6 - 2
6-33053656-G-T c.747G>T p.R249S Missense 4/6 - 3
6-33053662-G-C c.753G>C p.K251N Missense 4/6 - 1
6-33053662-G-T c.753G>T p.K251N Missense 4/6 - 1
6-33053666-G-T c.757G>T p.V253F Missense 4/6 - 1
6-33053682-G-A c.757+16G>A - IntronicSNV - 4/5 14
6-33053682-G-C c.757+16G>C - IntronicSNV - 4/5 12
6-33053695-T-C c.757+29T>C - IntronicSNV - 4/5 2
6-33053708-G-A c.757+42G>A - IntronicSNV - 4/5 1
6-33053723-T-C c.757+57T>C - IntronicSNV - 4/5 7
6-33053726-C-T c.757+60C>T - IntronicSNV - 4/5 1
6-33053728-C-T c.757+62C>T - IntronicSNV - 4/5 4
6-33053737-G-A c.757+71G>A - IntronicSNV - 4/5 3
6-33053737-G-T c.757+71G>T - IntronicSNV - 4/5 4
6-33053739-T-C c.757+73T>C - IntronicSNV - 4/5 2
6-33053740-T-A c.757+74T>A - IntronicSNV - 4/5 2
6-33053740-T-C c.757+74T>C - IntronicSNV - 4/5 1
6-33053772-G-A c.757+106G>A - IntronicSNV - 4/5 3
6-33053772-G-T c.757+106G>T - IntronicSNV - 4/5 2
6-33053780-T-A c.757+114T>A - IntronicSNV - 4/5 3
6-33053789-A-G c.757+123A>G - IntronicSNV - 4/5 4
6-33053812-A-G c.757+146A>G - IntronicSNV - 4/5 2
6-33053820-A-G c.757+154A>G - IntronicSNV - 4/5 2
6-33053820-A-T c.757+154A>T - IntronicSNV - 4/5 1
6-33053845-G-T c.758-151G>T - IntronicSNV - 4/5 1
6-33053868-A-G c.758-128A>G - IntronicSNV - 4/5 2
6-33053871-A-G c.758-125A>G - IntronicSNV - 4/5 2
6-33053877-G-A c.758-119G>A - IntronicSNV - 4/5 2
6-33053877-G-C c.758-119G>C - IntronicSNV - 4/5 2
6-33053877-G-T c.758-119G>T - IntronicSNV - 4/5 2
6-33053887-A-G c.758-109A>G - IntronicSNV - 4/5 2
6-33053890-G-A c.758-106G>A - IntronicSNV - 4/5 2
6-33053902-A-G c.758-94A>G - IntronicSNV - 4/5 2
6-33053906-G-T c.758-90G>T - IntronicSNV - 4/5 2
6-33053942-T-C c.758-54T>C - IntronicSNV - 4/5 11
6-33053968-T-A c.758-28T>A - IntronicSNV - 4/5 4
6-33053971-T-C c.758-25T>C - IntronicSNV - 4/5 5
6-33053982-G-A c.758-14G>A - IntronicSNV - 4/5 4
6-33053982-G-C c.758-14G>C - IntronicSNV - 4/5 4
6-33054000-A-G c.762A>G p.Q254= Synonymous 5/6 - 1
6-33054001-C-T c.763C>T p.R255* Nonsense 5/6 - 2
6-33054002-G-C c.764G>C p.R255P Missense 5/6 - 1
6-33054004-G-A c.766G>A p.G256R Missense 5/6 - 1
6-33054004-G-C c.766G>C p.G256R Missense 5/6 - 1
6-33054007-T-A c.769T>A p.S257T Missense 5/6 - 1
6-33054013-AT-A c.775del p.*259Kfs*5 CdsStopDeletion 5/6 - 1
6-33054013-T-C c.775T>C p.*259Qext*53 Missense 5/6 - 1
6-33054013-TA-T c.*1del - CdsStopDeletion 5/6 - 5
6-33054035-T-A c.*20T>A - IntronicSNV 6/6 - 3
6-33054035-T-C c.*20T>C - IntronicSNV 6/6 - 3
6-33054046-T-A c.*31T>A - IntronicSNV 6/6 - 2
6-33054046-T-C c.*31T>C - IntronicSNV 6/6 - 2
6-33054046-T-G c.*4+27T>G - IntronicSNV - 5/5 5
6-33054342-T-A c.*31T>A - IntronicSNV 6/6 - 4
6-33054342-T-C c.*31T>C - IntronicSNV 6/6 - 4
6-33054057-G-A c.*42G>A - IntronicSNV 6/6 - 4
6-33054057-G-T c.*4+38G>T - IntronicSNV - 5/5 4
6-33054059-A-C c.*44A>C - IntronicSNV 6/6 - 2
6-33054059-A-T c.*44A>T - IntronicSNV 6/6 - 2
6-33054071-G-C c.*4+52G>C - IntronicSNV - 5/5 3
6-33054074-C-T c.*4+55C>T - IntronicSNV - 5/5 4
6-33054080-G-C c.*4+61G>C - IntronicSNV - 5/5 1
6-33054085-T-C c.*70T>C - IntronicSNV 6/6 - 2
6-33054091-C-T c.*4+72C>T - IntronicSNV - 5/5 2
6-33054114-A-C c.*99A>C - IntronicSNV 6/6 - 1
6-33054118-T-A c.*103T>A - IntronicSNV 6/6 - 1
6-33054141-T-C c.*4+122T>C - IntronicSNV - 5/5 4
6-33054142-G-C c.*4+123G>C - IntronicSNV - 5/5 2
6-33054148-C-T c.*4+129C>T - IntronicSNV - 5/5 2
6-33054149-T-C c.*4+130T>C - IntronicSNV - 5/5 2
6-33054152-A-G c.*4+133A>G - IntronicSNV - 5/5 2
6-33054155-C-T c.*4+136C>T - IntronicSNV - 5/5 2
6-33054156-A-G c.*4+137A>G - IntronicSNV - 5/5 2
6-33054167-G-A c.*4+148G>A - IntronicSNV - 5/5 2
6-33054176-T-A c.*5-140T>A - intron_variant - 5/5 2
6-33054177-T-C c.*5-139T>C - intron_variant - 5/5 2
6-33054207-A-G c.*5-109A>G - intron_variant - 5/5 3
6-33054208-C-T c.*5-108C>T - intron_variant - 5/5 2
6-33054215-A-C c.*5-101A>C - intron_variant - 5/5 2
6-33054227-G-A c.*5-89G>A - intron_variant - 5/5 2
6-33054231-C-T c.*5-85C>T - intron_variant - 5/5 2
6-33054235-T-G c.*5-81T>G - intron_variant - 5/5 4
6-33054256-C-G c.*241C>G - IntronicSNV 6/6 - 2
6-33054256-C-T c.*241C>T - IntronicSNV 6/6 - 2
6-33054552-C-G c.*241C>G - IntronicSNV 6/6 - 2
6-33054552-C-T c.*241C>T - IntronicSNV 6/6 - 2
6-33054268-C-A c.*5-48C>A - intron_variant - 5/5 3
6-33054268-C-T c.*5-48C>T - intron_variant - 5/5 3
6-33054280-T-C c.*5-36T>C - intron_variant - 5/5 2
6-33054281-G-A c.*5-35G>A - intron_variant - 5/5 3
6-33054283-C-T c.*268C>T - IntronicSNV 6/6 - 2
6-33054579-C-T c.*268C>T - IntronicSNV 6/6 - 1
6-33054302-T-C c.*5-14T>C - splice_polypyrimidine_tract_variant,intron_variant - 5/5 3
6-33054323-G-A c.*308G>A - 3-UTRSNV 6/6 - 1
6-33054619-G-A c.*308G>A - 3-UTRSNV 6/6 - 4
6-33054325-G-A c.*14G>A - 3_prime_UTR_variant 6/6 - 4
6-33054325-G-C c.*14G>C - 3_prime_UTR_variant 6/6 - 4
6-33054360-A-C c.*345A>C - 3-UTRSNV 6/6 - 1
6-33054360-A-T c.*345A>T - 3-UTRSNV 6/6 - 1
6-33054656-A-C c.*345A>C - 3-UTRSNV 6/6 - 2
6-33054656-A-T c.*345A>T - 3-UTRSNV 6/6 - 2
6-33054373-C-T c.*62C>T - 3_prime_UTR_variant 6/6 - 2
6-33054386-C-T c.*75C>T - 3_prime_UTR_variant 6/6 - 2
6-33054687-G-A c.*376G>A - 3-UTRSNV 6/6 - 1
6-33054400-T-C c.*89T>C - 3_prime_UTR_variant 6/6 - 2
6-33054404-A-G c.*93A>G - 3_prime_UTR_variant 6/6 - 1
6-33054413-T-C c.*102T>C - 3_prime_UTR_variant 6/6 - 1
6-33054413-T-G c.*102T>G - 3_prime_UTR_variant 6/6 - 1
6-33054433-G-C c.*122G>C - 3_prime_UTR_variant 6/6 - 4
6-33054457-A-G c.*146A>G - 3_prime_UTR_variant 6/6 - 10
6-33054463-C-T c.*152C>T - 3_prime_UTR_variant 6/6 - 2
6-33054550-G-A c.*239G>A - 3_prime_UTR_variant 6/6 - 9
6-33054586-A-G c.*275A>G - 3_prime_UTR_variant 6/6 - 1
6-33054595-C-T c.*284C>T - 3_prime_UTR_variant 6/6 - 3
6-33054659-A-G c.*348A>G - 3_prime_UTR_variant 6/6 - 2
6-33054683-A-G c.*372A>G - 3_prime_UTR_variant 6/6 - 1
6-33054721-C-T c.*410C>T - 3_prime_UTR_variant 6/6 - 4
6-33054807-A-G c.*496A>G - 3_prime_UTR_variant 6/6 - 63
6-33054861-A-G c.*550A>G - 3_prime_UTR_variant 6/6 - 129
6-33054890-C-T c.*579C>T - 3_prime_UTR_variant 6/6 - 2
6-33055009-C-A c.*698C>A - 3_prime_UTR_variant 6/6 - 1
6-33055047-A-G c.*736A>G - 3_prime_UTR_variant 6/6 - 4
6-33055367-C-A c.*1056C>A - 3-UTRSNV 6/6 - 1
6-33055079-A-G c.*768A>G - 3_prime_UTR_variant 6/6 - 2
6-33055094-C-T c.*1079C>T - 3-UTRSNV 6/6 - 1
6-33055098-C-T c.*787C>T - 3_prime_UTR_variant 6/6 - 2
6-33055123-A-G c.*1108A>G - 3-UTRSNV 6/6 - 1
6-33055419-A-G c.*1108A>G - 3-UTRSNV 6/6 - 3
6-33055158-A-G c.*847A>G - 3_prime_UTR_variant 6/6 - 1
6-33055158-A-T c.*847A>T - 3_prime_UTR_variant 6/6 - 1
6-33055191-T-C c.*1176T>C - 3-UTRSNV 6/6 - 1
6-33055487-T-C c.*1176T>C - 3-UTRSNV 6/6 - 1
6-33055242-C-T c.*1227C>T - 3-UTRSNV 6/6 - 3
6-33055538-C-T c.*1227C>T - 3-UTRSNV 6/6 - 18
6-33055247-T-A c.*936T>A - 3_prime_UTR_variant 6/6 - 24
6-33055247-T-C c.*936T>C - 3_prime_UTR_variant 6/6 - 24
6-33055255-G-A c.*1240G>A - 3-UTRSNV 6/6 - 2
6-33055255-G-T c.*1240G>T - 3-UTRSNV 6/6 - 2
6-33055323-C-A c.*1012C>A - 3_prime_UTR_variant 6/6 - 2
6-33055323-C-T c.*1012C>T - 3_prime_UTR_variant 6/6 - 2
6-33055346-T-G c.*1035T>G - 3_prime_UTR_variant 6/6 - 5
6-33055355-A-G c.*1044A>G - 3_prime_UTR_variant 6/6 - 7
6-33055355-A-T c.*1044A>T - 3_prime_UTR_variant 6/6 - 7
6-33055494-G-A c.*1183G>A - 3_prime_UTR_variant 6/6 - 1
6-33055494-G-T c.*1183G>T - 3_prime_UTR_variant 6/6 - 1
6-33055501-C-T c.*1190C>T - 3_prime_UTR_variant 6/6 - 3
6-33055605-G-A c.*1294G>A - 3_prime_UTR_variant 6/6 - 13
6-33055773-G-A c.*1758G>A - 3-UTRSNV 6/6 - 2
6-33056069-G-A c.*1758G>A - 3-UTRSNV 6/6 - 1
6-33055780-C-T c.*1469C>T - 3_prime_UTR_variant 6/6 - 4
6-33055818-A-G c.*1507A>G - 3_prime_UTR_variant 6/6 - 1
6-33055818-A-T c.*1507A>T - 3_prime_UTR_variant 6/6 - 1
6-33055899-G-A c.*1588G>A - 3_prime_UTR_variant 6/6 - 16
6-33055946-G-A c.*1635G>A - 3_prime_UTR_variant 6/6 - 4
6-33056253-T-A c.*1942T>A - 3-UTRSNV 6/6 - 1
6-33056139-G-T c.*2124G>T - 3-UTRSNV 6/6 - 2
6-33056435-G-T c.*2124G>T - 3-UTRSNV 6/6 - 4
6-33056207-C-T c.*1896C>T - 3_prime_UTR_variant 6/6 - 3
6-33056384-G-A c.*2073G>A - 3_prime_UTR_variant 6/6 - 2
6-33056470-A-G c.*2455A>G - 3-UTRSNV 6/6 - 1
6-33056470-A-T c.*2455A>T - 3-UTRSNV 6/6 - 1
6-33056566-T-C c.*2255T>C - 3_prime_UTR_variant 6/6 - 2
6-33056962-C-T c.*2651C>T - 3-UTRSNV 6/6 - 2
6-33056694-T-C c.*2383T>C - 3_prime_UTR_variant 6/6 - 2
6-33056711-C-T c.*2400C>T - 3_prime_UTR_variant 6/6 - 1
6-33056749-T-C c.*2438T>C - 3_prime_UTR_variant 6/6 - 3
6-33056788-G-A c.*2477G>A - 3_prime_UTR_variant 6/6 - 1
6-33056897-C-T c.*2586C>T - 3_prime_UTR_variant 6/6 - 14
6-33057198-G-C c.*2887G>C - 3-UTRSNV 6/6 - 1
6-33057013-A-C c.*2702A>C - 3_prime_UTR_variant 6/6 - 6
6-33057055-T-C c.*2744T>C - 3_prime_UTR_variant 6/6 - 1
6-33057176-T-C c.*2865T>C - 3_prime_UTR_variant 6/6 - 4
6-33057232-T-C c.*2921T>C - 3_prime_UTR_variant 6/6 - 1
6-33057440-C-T c.*3129C>T - 3_prime_UTR_variant 6/6 - 1