IGF2R

IGF2R insulin like growth factor 2 receptor

Annotation transcript: NM_000876.4

3376 unique variant annotations were identified in 1019 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
6-160390241-T-C c.-38T>C - 5-UTRSNV 1/48 - 4
6-160390281-G-A c.3G>A p.M1? Missense 1/48 - 1
6-160390281-G-C c.3G>C p.M1? Missense 1/48 - 2
6-160390281-G-T c.3G>T p.M1? Missense 1/48 - 1
6-160390288-G-A c.10G>A p.A4T Missense 1/48 - 1
6-160390289-C-T c.11C>T p.A4V Missense 1/48 - 1
6-160390291-G-T c.13G>T p.A5S Missense 1/48 - 1
6-160390294-G-A c.16G>A p.G6S Missense 1/48 - 1
6-160390294-G-C c.16G>C p.G6R Missense 1/48 - 1
6-160390298-G-A c.20G>A p.R7Q Missense 1/48 - 1
6-160390300-AG-TT c.22_23delinsTT p.S8F Missense 1/48 - 1
6-160390301-G-A c.23G>A p.S8N Missense 1/48 - 1
6-160390302-C-T c.24C>T p.S8= Synonymous 1/48 - 2
6-160390309-CTG-ATC c.31_33delinsATC p.L11I Missense 1/48 - 1
6-160390312-G-T c.34G>T p.G12W Missense 1/48 - 1
6-160390313-G-A c.35G>A p.G12E Missense 1/48 - 1
6-160390313-G-C c.35G>C p.G12A Missense 1/48 - 1
6-160390313-GG-AC c.35_36delinsAC p.G12D Missense 1/48 - 2
6-160390313-G-T c.35G>T p.G12V Missense 1/48 - 1
6-160390315-CCC-AAG c.37_39delinsAAG p.P13K Missense 1/48 - 5
6-160390315-C-G c.37C>G p.P13A Missense 1/48 - 2
6-160390318-G-A c.40G>A p.A14T Missense 1/48 - 1
6-160390318-G-C c.40G>C p.A14P Missense 1/48 - 1
6-160390318-GC-AA c.40_41delinsAA p.A14K Missense 1/48 - 1
6-160390318-GC-TG c.40_41delinsTG p.A14W Missense 1/48 - 2
6-160390319-C-G c.41C>G p.A14G Missense 1/48 - 2
6-160390319-C-T c.41C>T p.A14V Missense 1/48 - 1
6-160390324-G-A c.46G>A p.A16T Missense 1/48 - 1
6-160390324-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 1/48 - 3
6-160390324-GC-TT c.46_47delinsTT p.A16F Missense 1/48 - 1
6-160390325-C-A c.47C>A p.A16D Missense 1/48 - 2
6-160390326-C-A c.48C>A p.A16= Synonymous 1/48 - 2
6-160390326-C-G c.48C>G p.A16= Synonymous 1/48 - 1
6-160390326-C-T c.48C>T p.A16= Synonymous 1/48 - 1
6-160390327-C-T c.49C>T p.R17C Missense 1/48 - 1
6-160390328-G-A c.50G>A p.R17H Missense 1/48 - 1
6-160390330-C-A c.52C>A p.R18S Missense 1/48 - 2
6-160390330-CGC-TGA c.52_54delinsTGA p.R18* Nonsense 1/48 - 1
6-160390333-C-G c.55C>G p.P19A Missense 1/48 - 1
6-160390333-C-T c.55C>T p.P19S Missense 1/48 - 1
6-160390334-C-T c.56C>T p.P19L Missense 1/48 - 1
6-160390338-G-C c.60G>C p.Q20H Missense 1/48 - 2
6-160390338-G-T c.60G>T p.Q20H Missense 1/48 - 1
6-160390339-C-A c.61C>A p.R21S Missense 1/48 - 1
6-160390339-CGC-GAG c.61_63delinsGAG p.R21E Missense 1/48 - 1
6-160390341-C-A c.63C>A p.R21= Synonymous 1/48 - 1
6-160390341-C-G c.63C>G p.R21= Synonymous 1/48 - 1
6-160390341-C-T c.63C>T p.R21= Synonymous 1/48 - 1
6-160390342-TC-AA c.64_65delinsAA p.S22N Missense 1/48 - 2
6-160390343-C-A c.65C>A p.S22Y Missense 1/48 - 1
6-160390343-C-T c.65C>T p.S22F Missense 1/48 - 1
6-160390344-T-A c.66T>A p.S22= Synonymous 1/48 - 2
6-160390344-T-C c.66T>C p.S22= Synonymous 1/48 - 2
6-160390344-T-G c.66T>G p.S22= Synonymous 1/48 - 2
6-160390345-CT-GC c.67_68delinsGC p.L23A Missense 1/48 - 1
6-160390350-C-T c.72C>T p.L24= Synonymous 1/48 - 2
6-160390351-C-A c.73C>A p.L25M Missense 1/48 - 1
6-160390359-G-A c.81G>A p.Q27= Synonymous 1/48 - 1
6-160390360-C-T c.82C>T p.L28= Synonymous 1/48 - 1
6-160390366-CTG-TTT c.88_90delinsTTT p.L30F Missense 1/48 - 1
6-160390367-T-A c.89T>A p.L30Q Missense 1/48 - 1
6-160390370-T-C c.92T>C p.L31P Missense 1/48 - 1
6-160390372-G-A c.94G>A p.V32I Missense 1/48 - 3
6-160390376-C-G c.98C>G p.A33G Missense 1/48 - 1
6-160390378-GC-TG c.100_101delinsTG p.A34C Missense 1/48 - 1
6-160390379-C-A c.101C>A p.A34D Missense 1/48 - 1
6-160390379-C-T c.101C>T p.A34V Missense 1/48 - 1
6-160390381-CCG-AAC c.103_105delinsAAC p.P35N Missense 1/48 - 1
6-160390381-CC-GG c.103_104inv p.P35G Missense 1/48 - 4
6-160390386-G-A c.108G>A p.G36= Synonymous 1/48 - 1
6-160390386-G-C c.108G>C p.G36= Synonymous 1/48 - 1
6-160390386-G-T c.108G>T p.G36= Synonymous 1/48 - 1
6-160390389-C-T c.111C>T p.S37= Synonymous 1/48 - 1
6-160390390-A-G c.112A>G p.T38A Missense 1/48 - 1
6-160390396-G-A c.118G>A p.A40T Missense 1/48 - 1
6-160390396-GC-AA c.118_119delinsAA p.A40N Missense 1/48 - 1
6-160390396-GCC-TGG c.118_120delinsTGG p.A40W Missense 1/48 - 1
6-160390397-CC-AG c.119_120delinsAG p.A40E Missense 1/48 - 1
6-160390399-C-T c.121C>T p.Q41* Nonsense 1/48 - 1
6-160390402-GC-TA c.124_125delinsTA p.A42Y Missense 1/48 - 2
6-160390402-G-T c.124G>T p.A42S Missense 1/48 - 1
6-160390404-C-A c.126C>A p.A42= Synonymous 1/48 - 1
6-160390404-C-G c.126C>G p.A42= Synonymous 1/48 - 1
6-160390404-C-T c.126C>T p.A42= Synonymous 1/48 - 1
6-160390405-GC-TG c.127_128delinsTG p.A43C Missense 1/48 - 1
6-160390411-T-G c.133T>G p.F45V Missense 1/48 - 1
6-160390412-T-C c.134T>C p.F45S Missense 1/48 - 1
6-160390414-C-G c.136C>G p.P46A Missense 1/48 - 1
6-160390415-C-A c.137C>A p.P46H Missense 1/48 - 1
6-160390424-G-T c.146G>T p.C49F Missense 1/48 - 1
6-160390425-C-A c.147C>A p.C49* Nonsense 1/48 - 1
6-160390425-C-T c.147C>T p.C49= Synonymous 1/48 - 1
6-160390426-AG-GC c.148_149delinsGC p.S50A Missense 1/48 - 1
6-160390427-G-A c.149G>A p.S50N Missense 1/48 - 1
6-160390427-G-T c.149G>T p.S50I Missense 1/48 - 1
6-160390430-G-A c.149+3G>A - IntronicSNV - 1/47 1
6-160391477-TG-T c.149+1058del - IntronicDeletion - 1/47 1
6-160393870-T-A c.149+3443T>A - IntronicSNV - 1/47 1
6-160393870-T-G c.149+3443T>G - IntronicSNV - 1/47 1
6-160396684-GA-G c.149+6266del - IntronicDeletion - 1/47 1
6-160397713-C-T c.149+7286C>T - IntronicSNV - 1/47 1
6-160399929-G-C c.149+9502G>C - IntronicSNV - 1/47 1
6-160402705-G-A c.150-9511G>A - IntronicSNV - 1/47 2
6-160403788-C-G c.150-8428C>G - IntronicSNV - 1/47 1
6-160403788-C-T c.150-8428C>T - IntronicSNV - 1/47 1
6-160404044-C-T c.150-8172C>T - IntronicSNV - 1/47 1
6-160404832-T-C c.150-7384T>C - IntronicSNV - 1/47 1
6-160405089-A-C c.150-7127A>C - IntronicSNV - 1/47 2
6-160405089-A-G c.150-7127A>G - IntronicSNV - 1/47 2
6-160405424-G-A c.150-6792G>A - IntronicSNV - 1/47 1
6-160405424-G-T c.150-6792G>T - IntronicSNV - 1/47 1
6-160408325-G-T c.150-3891G>T - IntronicSNV - 1/47 1
6-160410634-A-T c.150-1582A>T - IntronicSNV - 1/47 1
6-160411965-C-T c.150-251C>T - IntronicSNV - 1/47 1
6-160412221-C-T c.155C>T p.T52I Missense 2/48 - 1
6-160412222-A-C c.156A>C p.T52= Synonymous 2/48 - 1
6-160412222-A-G c.156A>G p.T52= Synonymous 2/48 - 2
6-160412222-A-T c.156A>T p.T52= Synonymous 2/48 - 1
6-160412225-G-A c.159G>A p.W53* Nonsense 2/48 - 1
6-160412229-GCT-TGG c.163_165delinsTGG p.A55W Missense 2/48 - 1
6-160412231-T-A c.165T>A p.A55= Synonymous 2/48 - 1
6-160412231-T-C c.165T>C p.A55= Synonymous 2/48 - 1
6-160412231-T-G c.165T>G p.A55= Synonymous 2/48 - 1
6-160412232-G-A c.166G>A p.V56I Missense 2/48 - 1
6-160412235-G-A c.169G>A p.D57N Missense 2/48 - 1
6-160412236-A-C c.170A>C p.D57A Missense 2/48 - 2
6-160412238-A-G c.172A>G p.T58A Missense 2/48 - 1
6-160412239-CC-TG c.173_174delinsTG p.T58M Missense 2/48 - 1
6-160412244-AAT-TAA c.178_180delinsTAA p.N60* Nonsense 2/48 - 1
6-160412247-A-G c.181A>G p.N61D Missense 2/48 - 1
6-160412249-T-C c.183T>C p.N61= Synonymous 2/48 - 1
6-160412250-G-A c.184G>A p.V62I Missense 2/48 - 1
6-160412250-GTA-TTT c.184_186delinsTTT p.V62F Missense 2/48 - 1
6-160412253-C-T c.187C>T p.L63F Missense 2/48 - 1
6-160412253-CT-GC c.187_188delinsGC p.L63A Missense 2/48 - 1
6-160412256-TA-GC c.190_191delinsGC p.Y64A Missense 2/48 - 1
6-160412257-A-G c.191A>G p.Y64C Missense 2/48 - 1
6-160412258-T-A c.192T>A p.Y64* Nonsense 2/48 - 1
6-160412258-T-G c.192T>G p.Y64* Nonsense 2/48 - 1
6-160412262-A-G c.196A>G p.I66V Missense 2/48 - 1
6-160412270-C-A c.204C>A p.I68= Synonymous 2/48 - 1
6-160412270-C-G c.204C>G p.I68M Missense 2/48 - 1
6-160412270-C-T c.204C>T p.I68= Synonymous 2/48 - 1
6-160412271-TG-GC c.205_206delinsGC p.C69A Missense 2/48 - 1
6-160412271-TGT-GAG c.205_207delinsGAG p.C69E Missense 2/48 - 1
6-160412272-G-A c.206G>A p.C69Y Missense 2/48 - 1
6-160412275-G-A c.209G>A p.G70E Missense 2/48 - 1
6-160412275-GA-AC c.209_210delinsAC p.G70D Missense 2/48 - 1
6-160412275-G-T c.209G>T p.G70V Missense 2/48 - 1
6-160412276-A-G c.210A>G p.G70= Synonymous 2/48 - 1
6-160412277-A-C c.211A>C p.S71R Missense 2/48 - 1
6-160412277-A-G c.211A>G p.S71G Missense 2/48 - 1
6-160412277-AG-GC c.211_212delinsGC p.S71A Missense 2/48 - 1
6-160412278-G-A c.212G>A p.S71N Missense 2/48 - 1
6-160412278-G-T c.212G>T p.S71I Missense 2/48 - 1
6-160412280-G-A c.214G>A p.V72M Missense 2/48 - 1
6-160412284-A-G c.218A>G p.D73G Missense 2/48 - 1
6-160412285-T-C c.219T>C p.D73= Synonymous 2/48 - 1
6-160412287-TT-GG c.221_222delinsGG p.I74R Missense 2/48 - 1
6-160412288-T-A c.222T>A p.I74= Synonymous 2/48 - 1
6-160412288-T-C c.222T>C p.I74= Synonymous 2/48 - 1
6-160412291-C-A c.225C>A p.V75= Synonymous 2/48 - 1
6-160412291-C-G c.225C>G p.V75= Synonymous 2/48 - 1
6-160412291-C-T c.225C>T p.V75= Synonymous 2/48 - 1
6-160412297-C-A c.231C>A p.C77* Nonsense 2/48 - 1
6-160412298-G-A c.232G>A p.G78R Missense 2/48 - 2
6-160412298-G-C c.232G>C p.G78R Missense 2/48 - 1
6-160412304-T-C c.238T>C p.S80P Missense 2/48 - 1
6-160412305-C-T c.239C>T p.S80L Missense 2/48 - 1
6-160412308-G-C c.242G>C p.S81T Missense 2/48 - 1
6-160412310-GC-TG c.244_245delinsTG p.A82C Missense 2/48 - 2
6-160412311-C-A c.245C>A p.A82D Missense 2/48 - 1
6-160412311-C-T c.245C>T p.A82V Missense 2/48 - 1
6-160412313-G-A c.247G>A p.V83I Missense 2/48 - 1
6-160412313-GTT-ATG c.247_249delinsATG p.V83M Missense 2/48 - 1
6-160412315-T-A c.249T>A p.V83= Synonymous 2/48 - 1
6-160412315-T-C c.249T>C p.V83= Synonymous 2/48 - 1
6-160412315-T-G c.249T>G p.V83= Synonymous 2/48 - 2
6-160412316-T-C c.250T>C p.C84R Missense 2/48 - 1
6-160412317-G-A c.251G>A p.C84Y Missense 2/48 - 1
6-160412322-CA-GC c.256_257delinsGC p.H86A Missense 2/48 - 2
6-160412322-C-T c.256C>T p.H86Y Missense 2/48 - 1
6-160412325-G-A c.259G>A p.D87N Missense 2/48 - 4
6-160412329-TTG-T c.263_264del p.L88* Frameshift 2/48 - 1
6-160412334-A-G c.268A>G p.T90A Missense 2/48 - 1
6-160412335-C-T c.269C>T p.T90I Missense 2/48 - 1
6-160412337-C-G c.271C>G p.R91G Missense 2/48 - 4
6-160412337-C-T c.271C>T p.R91C Missense 2/48 - 1
6-160412338-G-A c.272G>A p.R91H Missense 2/48 - 6
6-160412338-G-C c.272G>C p.R91P Missense 2/48 - 1
6-160412338-G-T c.272G>T p.R91L Missense 2/48 - 3
6-160412340-A-T c.274A>T p.T92S Missense 2/48 - 2
6-160412341-C-G c.275C>G p.T92S Missense 2/48 - 1
6-160412343-T-C c.277T>C p.Y93H Missense 2/48 - 1
6-160412346-C-A c.280C>A p.H94N Missense 2/48 - 1
6-160412349-T-C c.283T>C p.S95P Missense 2/48 - 2
6-160412349-TC-AG c.283_284delinsAG p.S95R Missense 2/48 - 1
6-160412350-C-A c.284C>A p.S95* Nonsense 2/48 - 1
6-160412350-C-G c.284C>G p.S95* Nonsense 2/48 - 1
6-160412350-C-T c.284C>T p.S95L Missense 2/48 - 3
6-160412355-G-A c.289G>A p.G97S Missense 2/48 - 1
6-160412356-G-A c.289+1G>A - IntronicSNV - 2/47 1
6-160412434-G-A c.289+79G>A - IntronicSNV - 2/47 1
6-160415341-T-A c.289+2986T>A - IntronicSNV - 2/47 1
6-160415341-T-C c.289+2986T>C - IntronicSNV - 2/47 1
6-160416040-T-C c.289+3685T>C - IntronicSNV - 2/47 1
6-160417205-G-C c.289+4850G>C - IntronicSNV - 2/47 1
6-160418050-G-A c.289+5695G>A - IntronicSNV - 2/47 1
6-160421012-A-G c.289+8657A>G - IntronicSNV - 2/47 2
6-160422785-A-G c.290-7257A>G - IntronicSNV - 2/47 1
6-160427644-G-C c.290-2398G>C - IntronicSNV - 2/47 1
6-160427882-T-C c.290-2160T>C - IntronicSNV - 2/47 1
6-160428074-G-A c.290-1968G>A - IntronicSNV - 2/47 1
6-160428137-T-C c.290-1905T>C - IntronicSNV - 2/47 1
6-160428408-G-T c.290-1634G>T - IntronicSNV - 2/47 2
6-160428561-T-A c.290-1481T>A - IntronicSNV - 2/47 1
6-160429357-A-G c.290-685A>G - IntronicSNV - 2/47 3
6-160429737-A-G c.290-305A>G - IntronicSNV - 2/47 1
6-160429807-G-A c.290-235G>A - IntronicSNV - 2/47 1
6-160429807-G-T c.290-235G>T - IntronicSNV - 2/47 1
6-160429883-A-G c.290-159A>G - IntronicSNV - 2/47 1
6-160430042-G-A c.290G>A p.G97D Missense 3/48 - 1
6-160430047-T-A c.295T>A p.S99T Missense 3/48 - 1
6-160430048-C-G c.296C>G p.S99C Missense 3/48 - 5
6-160430053-TTG-GAC c.301_303delinsGAC p.L101D Missense 3/48 - 1
6-160430056-A-G c.304A>G p.R102G Missense 3/48 - 1
6-160430059-AG-CT c.307_308inv p.S103L Missense 3/48 - 1
6-160430059-AG-TT c.307_308delinsTT p.S103F Missense 3/48 - 1
6-160430062-G-A c.310G>A p.A104T Missense 3/48 - 1
6-160430063-C-A c.311C>A p.A104E Missense 3/48 - 1
6-160430063-C-T c.311C>T p.A104V Missense 3/48 - 2
6-160430065-A-G c.313A>G p.T105A Missense 3/48 - 1
6-160430066-C-T c.314C>T p.T105I Missense 3/48 - 1
6-160430068-A-T c.316A>T p.R106* Nonsense 3/48 - 1
6-160430069-G-A c.317G>A p.R106K Missense 3/48 - 1
6-160430070-A-G c.318A>G p.R106= Synonymous 3/48 - 1
6-160430070-A-AT c.319dup p.S107Ffs*12 Frameshift 3/48 - 1
6-160430071-T-A c.319T>A p.S107T Missense 3/48 - 1
6-160430071-TC-AA c.319_320delinsAA p.S107N Missense 3/48 - 3
6-160430072-C-A c.320C>A p.S107Y Missense 3/48 - 1
6-160430072-C-G c.320C>G p.S107C Missense 3/48 - 1
6-160430074-C-T c.322C>T p.L108F Missense 3/48 - 1
6-160430077-C-A c.325C>A p.L109M Missense 3/48 - 4
6-160430078-T-C c.326T>C p.L109P Missense 3/48 - 1
6-160430078-T-G c.326T>G p.L109R Missense 3/48 - 1
6-160430081-A-AAC c.330_331insCA p.F111Hfs*6 Frameshift 3/48 - 1
6-160430083-T-A c.331T>A p.F111I Missense 3/48 - 1
6-160430084-T-A c.332T>A p.F111Y Missense 3/48 - 1
6-160430084-T-C c.332T>C p.F111S Missense 3/48 - 1
6-160430085-C-T c.333C>T p.F111= Synonymous 3/48 - 2
6-160430087-A-G c.335A>G p.N112S Missense 3/48 - 2
6-160430089-A-G c.337A>G p.T113A Missense 3/48 - 2
6-160430092-A-C c.340A>C p.T114P Missense 3/48 - 1
6-160430092-A-G c.340A>G p.T114A Missense 3/48 - 1
6-160430093-C-A c.341C>A p.T114K Missense 3/48 - 1
6-160430100-C-T c.348C>T p.S116= Synonymous 3/48 - 1
6-160430101-T-A c.349T>A p.C117S Missense 3/48 - 2
6-160430102-G-A c.350G>A p.C117Y Missense 3/48 - 1
6-160430102-G-C c.350G>C p.C117S Missense 3/48 - 3
6-160430103-T-A c.351T>A p.C117* Nonsense 3/48 - 1
6-160430107-C-T c.355C>T p.Q119* Nonsense 3/48 - 2
6-160430109-G-A c.357G>A p.Q119= Synonymous 3/48 - 2
6-160430110-C-A c.358C>A p.Q120K Missense 3/48 - 1
6-160430113-G-C c.361G>C p.G121R Missense 3/48 - 1
6-160430114-G-A c.362G>A p.G121D Missense 3/48 - 1
6-160430114-G-T c.362G>T p.G121V Missense 3/48 - 2
6-160430117-C-G c.365C>G p.T122R Missense 3/48 - 2
6-160430121-T-C c.369T>C p.N123= Synonymous 3/48 - 1
6-160430125-AGA-TGG c.373_375delinsTGG p.R125W Missense 3/48 - 1
6-160430125-AGA-TGT c.373_375delinsTGT p.R125C Missense 3/48 - 1
6-160430128-G-A c.376G>A p.V126I Missense 3/48 - 1
6-160430131-C-A c.379C>A p.Q127K Missense 3/48 - 1
6-160430132-A-G c.380A>G p.Q127R Missense 3/48 - 2
6-160430134-AG-TA c.382_383delinsTA p.S128Y Missense 3/48 - 1
6-160430139-C-T c.387C>T p.S129= Synonymous 3/48 - 1
6-160430143-G-A c.391G>A p.A131T Missense 3/48 - 1
6-160430144-C-G c.392C>G p.A131G Missense 3/48 - 1
6-160430144-C-T c.392C>T p.A131V Missense 3/48 - 1
6-160430146-T-A c.394T>A p.F132I Missense 3/48 - 1
6-160430148-C-T c.396C>T p.F132= Synonymous 3/48 - 2
6-160430149-C-G c.397C>G p.L133V Missense 3/48 - 1
6-160430149-C-T c.397C>T p.L133= Synonymous 3/48 - 1
6-160430151-G-T c.399G>T p.L133= Synonymous 3/48 - 1
6-160430152-T-C c.400T>C p.C134R Missense 3/48 - 2
6-160430152-T-G c.400T>G p.C134G Missense 3/48 - 1
6-160430152-TG-AC c.400_401delinsAC p.C134T Missense 3/48 - 1
6-160430153-G-T c.401G>T p.C134F Missense 3/48 - 2
6-160430154-T-C c.402T>C p.C134= Synonymous 3/48 - 1
6-160430157-GGAAA-G c.405_408del p.K136Pfs*8 Frameshift 3/48 - 1
6-160430157-GAAA-G c.407_409del p.K136del InFrameDeletion 3/48 - 2
6-160430157-G-GA c.409dup p.T137Nfs*6 Frameshift 3/48 - 1
6-160430161-A-G c.409A>G p.T137A Missense 3/48 - 1
6-160430162-C-CTCA c.410_411insTCA p.T137_L138insH InFrameInsertion 3/48 - 1
6-160430164-C-G c.412C>G p.L138V Missense 3/48 - 1
6-160430165-T-A c.413T>A p.L138Q Missense 3/48 - 1
6-160430165-T-G c.413T>G p.L138R Missense 3/48 - 2
6-160430171-G-T c.414+5G>T - IntronicSNV - 3/47 1
6-160430199-T-A c.414+33T>A - IntronicSNV - 3/47 1
6-160430199-TAA-T c.414+43_414+44del - IntronicDeletion - 3/47 1
6-160430199-TA-T c.414+44del - IntronicDeletion - 3/47 3
6-160430210-A-G c.414+44A>G - IntronicSNV - 3/47 1
6-160430210-A-T c.414+44A>T - IntronicSNV - 3/47 1
6-160430656-A-C c.414+490A>C - IntronicSNV - 3/47 3
6-160430656-A-T c.414+490A>T - IntronicSNV - 3/47 3
6-160431380-G-A c.415-339G>A - IntronicSNV - 3/47 2
6-160431688-T-C c.415-31T>C - IntronicSNV - 3/47 1
6-160431719-G-A c.415G>A p.G139R Missense 4/48 - 2
6-160431720-G-A c.416G>A p.G139E Missense 4/48 - 2
6-160431720-G-T c.416G>T p.G139V Missense 4/48 - 1
6-160431723-C-A c.419C>A p.T140N Missense 4/48 - 1
6-160431723-C-T c.419C>T p.T140I Missense 4/48 - 1
6-160431725-C-A c.421C>A p.P141T Missense 4/48 - 2
6-160431725-C-G c.421C>G p.P141A Missense 4/48 - 1
6-160431725-C-T c.421C>T p.P141S Missense 4/48 - 2
6-160431728-G-C c.424G>C p.E142Q Missense 4/48 - 1
6-160431740-G-A c.436G>A p.A146T Missense 4/48 - 1
6-160431740-G-T c.436G>T p.A146S Missense 4/48 - 1
6-160431744-C-T c.440C>T p.T147I Missense 4/48 - 1
6-160431746-G-A c.442G>A p.E148K Missense 4/48 - 1
6-160431750-G-A c.446G>A p.C149Y Missense 4/48 - 1
6-160431751-T-A c.447T>A p.C149* Nonsense 4/48 - 1
6-160431755-C-T c.451C>T p.H151Y Missense 4/48 - 3
6-160431757-C-A c.453C>A p.H151Q Missense 4/48 - 1
6-160431760-C-T c.456C>T p.Y152= Synonymous 4/48 - 1
6-160431762-T-C c.458T>C p.F153S Missense 4/48 - 1
6-160431762-T-G c.458T>G p.F153C Missense 4/48 - 1
6-160431763-T-C c.459T>C p.F153= Synonymous 4/48 - 1
6-160431767-TG-T c.465del p.W155* Frameshift 4/48 - 1
6-160431770-A-T c.466A>T p.R156W Missense 4/48 - 1
6-160431771-G-A c.467G>A p.R156K Missense 4/48 - 1
6-160431771-G-T c.467G>T p.R156M Missense 4/48 - 1
6-160431774-CC-TG c.470_471delinsTG p.T157M Missense 4/48 - 1
6-160431776-A-G c.472A>G p.T158A Missense 4/48 - 1
6-160431777-C-T c.473C>T p.T158I Missense 4/48 - 1
6-160431778-T-A c.474T>A p.T158= Synonymous 4/48 - 1
6-160431778-T-C c.474T>C p.T158= Synonymous 4/48 - 1
6-160431778-T-G c.474T>G p.T158= Synonymous 4/48 - 1
6-160431779-G-A c.475G>A p.A159T Missense 4/48 - 2
6-160431780-C-A c.476C>A p.A159E Missense 4/48 - 1
6-160431783-C-T c.479C>T p.A160V Missense 4/48 - 1
6-160431789-A-G c.485A>G p.K162R Missense 4/48 - 3
6-160431793-A-C c.489A>C p.K163N Missense 4/48 - 1
6-160431793-A-T c.489A>T p.K163N Missense 4/48 - 1
6-160431794-G-T c.490G>T p.D164Y Missense 4/48 - 1
6-160431798-T-A c.494T>A p.I165K Missense 4/48 - 1
6-160431798-T-C c.494T>C p.I165T Missense 4/48 - 1
6-160431806-G-A c.502G>A p.A168T Missense 4/48 - 4
6-160431812-A-C c.508A>C p.K170Q Missense 4/48 - 3
6-160431813-A-C c.509A>C p.K170T Missense 4/48 - 1
6-160432744-T-A c.513+927T>A - IntronicSNV - 4/47 1
6-160435569-T-A c.513+3752T>A - IntronicSNV - 4/47 1
6-160435569-T-G c.513+3752T>G - IntronicSNV - 4/47 1
6-160443428-A-G c.514-2176A>G - IntronicSNV - 4/47 5
6-160443428-A-T c.514-2176A>T - IntronicSNV - 4/47 5
6-160445493-G-A c.514-111G>A - IntronicSNV - 4/47 2
6-160445493-G-T c.514-111G>T - IntronicSNV - 4/47 2
6-160445602-AG-A c.514del p.V172Cfs*10 Frameshift 5/48 - 1
6-160445604-G-A c.514G>A p.V172M Missense 5/48 - 4
6-160445604-G-T c.514G>T p.V172L Missense 5/48 - 1
6-160445605-T-C c.515T>C p.V172A Missense 5/48 - 1
6-160445607-C-G c.517C>G p.P173A Missense 5/48 - 1
6-160445611-G-T c.521G>T p.C174F Missense 5/48 - 1
6-160445614-A-G c.524A>G p.Y175C Missense 5/48 - 2
6-160445619-T-C c.529T>C p.F177L Missense 5/48 - 2
6-160445621-T-A c.531T>A p.F177L Missense 5/48 - 2
6-160445621-T-G c.531T>G p.F177L Missense 5/48 - 2
6-160445622-G-A c.532G>A p.D178N Missense 5/48 - 2
6-160445625-G-A c.535G>A p.E179K Missense 5/48 - 1
6-160445633-G-C c.543G>C p.L181F Missense 5/48 - 2
6-160445635-G-C c.545G>C p.R182T Missense 5/48 - 1
6-160445637-A-G c.547A>G p.K183E Missense 5/48 - 1
6-160445640-C-T c.550C>T p.H184Y Missense 5/48 - 1
6-160445643-G-A c.553G>A p.D185N Missense 5/48 - 1
6-160445646-C-T c.556C>T p.L186F Missense 5/48 - 1
6-160445655-C-T c.565C>T p.L189= Synonymous 5/48 - 1
6-160445657-G-A c.567G>A p.L189= Synonymous 5/48 - 1
6-160445657-G-C c.567G>C p.L189= Synonymous 5/48 - 1
6-160445657-G-T c.567G>T p.L189= Synonymous 5/48 - 1
6-160445659-T-C c.569T>C p.I190T Missense 5/48 - 1
6-160445660-C-G c.570C>G p.I190M Missense 5/48 - 1
6-160445661-A-T c.571A>T p.K191* Nonsense 5/48 - 1
6-160445663-G-C c.573G>C p.K191N Missense 5/48 - 1
6-160445663-G-T c.573G>T p.K191N Missense 5/48 - 1
6-160445664-C-A c.574C>A p.L192I Missense 5/48 - 1
6-160445670-G-T c.580G>T p.G194C Missense 5/48 - 1
6-160445671-G-A c.581G>A p.G194D Missense 5/48 - 1
6-160445671-G-C c.581G>C p.G194A Missense 5/48 - 1
6-160445674-C-G c.584C>G p.A195G Missense 5/48 - 2
6-160445676-T-C c.586T>C p.Y196H Missense 5/48 - 1
6-160445679-T-G c.589T>G p.L197V Missense 5/48 - 1
6-160445682-G-A c.592G>A p.V198M Missense 5/48 - 2
6-160445682-GTG-TTT c.592_594delinsTTT p.V198F Missense 5/48 - 1
6-160445684-G-A c.594G>A p.V198= Synonymous 5/48 - 1
6-160445684-G-C c.594G>C p.V198= Synonymous 5/48 - 1
6-160445684-G-T c.594G>T p.V198= Synonymous 5/48 - 1
6-160445687-T-C c.597T>C p.D199= Synonymous 5/48 - 1
6-160445687-T-G c.597T>G p.D199E Missense 5/48 - 1
6-160445688-G-T c.598G>T p.D200Y Missense 5/48 - 1
6-160445689-A-C c.599A>C p.D200A Missense 5/48 - 1
6-160445692-C-T c.602C>T p.S201F Missense 5/48 - 5
6-160445693-C-A c.603C>A p.S201= Synonymous 5/48 - 1
6-160445693-C-G c.603C>G p.S201= Synonymous 5/48 - 1
6-160445693-C-T c.603C>T p.S201= Synonymous 5/48 - 2
6-160445694-G-T c.604G>T p.D202Y Missense 5/48 - 1
6-160445697-C-T c.607C>T p.P203S Missense 5/48 - 3
6-160445698-C-G c.608C>G p.P203R Missense 5/48 - 1
6-160445698-C-T c.608C>T p.P203L Missense 5/48 - 8
6-160445699-G-A c.609G>A p.P203= Synonymous 5/48 - 2
6-160445699-G-C c.609G>C p.P203= Synonymous 5/48 - 1
6-160445699-G-T c.609G>T p.P203= Synonymous 5/48 - 1
6-160445703-A-G c.613A>G p.T205A Missense 5/48 - 2
6-160445704-C-T c.614C>T p.T205I Missense 5/48 - 2
6-160445706-T-A c.616T>A p.S206T Missense 5/48 - 1
6-160445706-TC-AA c.616_617delinsAA p.S206N Missense 5/48 - 1
6-160445709-C-G c.619C>G p.L207V Missense 5/48 - 4
6-160445709-C-T c.619C>T p.L207= Synonymous 5/48 - 1
6-160445710-T-G c.620T>G p.L207R Missense 5/48 - 1
6-160445715-A-G c.625A>G p.I209V Missense 5/48 - 2
6-160445718-A-G c.628A>G p.N210D Missense 5/48 - 1
6-160445719-A-G c.629A>G p.N210S Missense 5/48 - 2
6-160445719-A-T c.629A>T p.N210I Missense 5/48 - 1
6-160445722-T-C c.632T>C p.V211A Missense 5/48 - 1
6-160445724-TG-AC c.634_635delinsAC p.C212T Missense 5/48 - 1
6-160445727-AGA-CAT c.637_639delinsCAT p.R213H Missense 5/48 - 1
6-160445727-AGA-TGT c.637_639delinsTGT p.R213C Missense 5/48 - 1
6-160445727-A-T c.637A>T p.R213* Nonsense 5/48 - 1
6-160445728-G-C c.638G>C p.R213T Missense 5/48 - 1
6-160445736-G-T c.646G>T p.D216Y Missense 5/48 - 3
6-160445739-A-G c.646+3A>G - IntronicSNV - 5/47 2
6-160445777-T-G c.646+41T>G - IntronicSNV - 5/47 1
6-160445779-T-C c.646+43T>C - IntronicSNV - 5/47 1
6-160445793-A-G c.646+57A>G - IntronicSNV - 5/47 6
6-160445922-T-C c.646+186T>C - IntronicSNV - 5/47 1
6-160447988-A-G c.647-229A>G - IntronicSNV - 5/47 2
6-160448162-G-A c.647-55G>A - IntronicSNV - 5/47 1
6-160448218-C-A c.648C>A p.D216E Missense 6/48 - 1
6-160448219-A-G c.649A>G p.T217A Missense 6/48 - 1
6-160448220-C-G c.650C>G p.T217R Missense 6/48 - 1
6-160448220-C-T c.650C>T p.T217I Missense 6/48 - 1
6-160448223-T-A c.653T>A p.L218Q Missense 6/48 - 1
6-160448225-C-T c.655C>T p.R219* Nonsense 6/48 - 2
6-160448226-G-T c.656G>T p.R219L Missense 6/48 - 1
6-160448228-G-A c.658G>A p.D220N Missense 6/48 - 2
6-160448230-C-A c.660C>A p.D220E Missense 6/48 - 1
6-160448236-T-C c.666T>C p.G222= Synonymous 6/48 - 1
6-160448238-C-G c.668C>G p.S223* Nonsense 6/48 - 1
6-160448240-C-T c.670C>T p.Q224* Nonsense 6/48 - 1
6-160448241-A-G c.671A>G p.Q224R Missense 6/48 - 2
6-160448244-T-C c.674T>C p.L225P Missense 6/48 - 1
6-160448244-TGCG-T c.676_678del p.R226del InFrameDeletion 6/48 - 1
6-160448246-C-T c.676C>T p.R226W Missense 6/48 - 10
6-160448247-G-A c.677G>A p.R226Q Missense 6/48 - 1
6-160448250-C-T c.680C>T p.A227V Missense 6/48 - 1
6-160448252-TG-AC c.682_683delinsAC p.C228T Missense 6/48 - 2
6-160448256-C-A c.686C>A p.P229H Missense 6/48 - 2
6-160448256-C-G c.686C>G p.P229R Missense 6/48 - 1
6-160448256-C-T c.686C>T p.P229L Missense 6/48 - 1
6-160448259-C-A c.689C>A p.P230H Missense 6/48 - 1
6-160448259-C-T c.689C>T p.P230L Missense 6/48 - 3
6-160448254-T-TC c.690dup p.G231Rfs*14 Frameshift 6/48 - 2
6-160448260-C-A c.690C>A p.P230= Synonymous 6/48 - 2
6-160448260-C-G c.690C>G p.P230= Synonymous 6/48 - 2
6-160448260-C-T c.690C>T p.P230= Synonymous 6/48 - 2
6-160448261-G-A c.691G>A p.G231S Missense 6/48 - 4
6-160448262-G-A c.692G>A p.G231D Missense 6/48 - 4
6-160448264-AC-TG c.694_695delinsTG p.T232C Missense 6/48 - 1
6-160448264-A-G c.694A>G p.T232A Missense 6/48 - 5
6-160448268-C-A c.698C>A p.A233D Missense 6/48 - 1
6-160448268-C-G c.698C>G p.A233G Missense 6/48 - 1
6-160448269-C-T c.699C>T p.A233= Synonymous 6/48 - 2
6-160448270-G-A c.700G>A p.A234T Missense 6/48 - 1
6-160448271-C-G c.701C>G p.A234G Missense 6/48 - 1
6-160448273-T-A c.703T>A p.C235S Missense 6/48 - 1
6-160448274-G-C c.704G>C p.C235S Missense 6/48 - 1
6-160448274-G-A c.704G>A p.C235Y Missense 6/48 - 1
6-160448279-G-A c.709G>A p.V237I Missense 6/48 - 1
6-160448279-G-C c.709G>C p.V237L Missense 6/48 - 1
6-160448281-A-C c.711A>C p.V237= Synonymous 6/48 - 3
6-160448281-A-G c.711A>G p.V237= Synonymous 6/48 - 3
6-160448281-A-T c.711A>T p.V237= Synonymous 6/48 - 4
6-160448282-AG-CT c.712_713inv p.R238L Missense 6/48 - 1
6-160448285-G-A c.715G>A p.G239R Missense 6/48 - 1
6-160448286-G-A c.716G>A p.G239E Missense 6/48 - 2
6-160448291-C-A c.721C>A p.Q241K Missense 6/48 - 1
6-160448293-G-T c.723G>T p.Q241H Missense 6/48 - 1
6-160448294-G-A c.724G>A p.A242T Missense 6/48 - 1
6-160448295-C-G c.725C>G p.A242G Missense 6/48 - 1
6-160448295-C-T c.725C>T p.A242V Missense 6/48 - 3
6-160448301-A-G c.731A>G p.D244G Missense 6/48 - 1
6-160448303-G-C c.733G>C p.V245L Missense 6/48 - 1
6-160448307-G-C c.737G>C p.G246A Missense 6/48 - 2
6-160448307-G-T c.737G>T p.G246V Missense 6/48 - 1
6-160448310-A-G c.740A>G p.Q247R Missense 6/48 - 1
6-160448311-G-C c.741G>C p.Q247H Missense 6/48 - 3
6-160448311-G-T c.741G>T p.Q247H Missense 6/48 - 2
6-160448312-C-T c.742C>T p.P248S Missense 6/48 - 2
6-160448313-C-T c.743C>T p.P248L Missense 6/48 - 1
6-160448315-C-G c.745C>G p.R249G Missense 6/48 - 1
6-160448315-CGG-AGC c.745_747delinsAGC p.R249S Missense 6/48 - 1
6-160448315-C-T c.745C>T p.R249W Missense 6/48 - 2
6-160448316-G-A c.746G>A p.R249Q Missense 6/48 - 1
6-160448316-G-T c.746G>T p.R249L Missense 6/48 - 1
6-160448318-G-A c.748G>A p.D250N Missense 6/48 - 1
6-160448322-G-A c.752G>A p.G251E Missense 6/48 - 1
6-160448322-G-T c.752G>T p.G251V Missense 6/48 - 1
6-160448323-A-G c.753A>G p.G251= Synonymous 6/48 - 1
6-160448324-C-G c.754C>G p.L252V Missense 6/48 - 44
6-160448324-C-T c.754C>T p.L252= Synonymous 6/48 - 2
6-160448326-G-A c.756G>A p.L252= Synonymous 6/48 - 2
6-160448326-G-C c.756G>C p.L252= Synonymous 6/48 - 2
6-160448326-G-T c.756G>T p.L252= Synonymous 6/48 - 2
6-160448330-C-T c.760C>T p.L254= Synonymous 6/48 - 1
6-160448333-G-A c.763G>A p.V255M Missense 6/48 - 2
6-160448334-T-G c.764T>G p.V255G Missense 6/48 - 1
6-160448336-CG-AT c.766_767delinsAT p.R256I Missense 6/48 - 1
6-160448337-G-A c.767G>A p.R256H Missense 6/48 - 2
6-160448342-G-A c.772G>A p.D258N Missense 6/48 - 1
6-160448342-G-T c.772G>T p.D258Y Missense 6/48 - 1
6-160448344-C-A c.774C>A p.D258E Missense 6/48 - 1
6-160448345-AG-CA c.775_776delinsCA p.R259Q Missense 6/48 - 1
6-160448462-G-A c.776+116G>A - IntronicSNV - 6/47 1
6-160450299-A-C c.777-283A>C - IntronicSNV - 6/47 1
6-160450299-A-T c.777-283A>T - IntronicSNV - 6/47 1
6-160450401-C-A c.777-181C>A - IntronicSNV - 6/47 1
6-160450402-T-A c.777-180T>A - IntronicSNV - 6/47 2
6-160450402-T-C c.777-180T>C - IntronicSNV - 6/47 2
6-160450575-C-T c.777-7C>T - IntronicSNV - 6/47 1
6-160450585-T-A c.780T>A p.L260= Synonymous 7/48 - 1
6-160450585-T-C c.780T>C p.L260= Synonymous 7/48 - 1
6-160450585-T-G c.780T>G p.L260= Synonymous 7/48 - 1
6-160450589-C-T c.784C>T p.L262= Synonymous 7/48 - 2
6-160450592-AG-CC c.787_788delinsCC p.S263P Missense 7/48 - 1
6-160450596-A-T c.791A>T p.Y264F Missense 7/48 - 1
6-160450597-C-T c.792C>T p.Y264= Synonymous 7/48 - 1
6-160450598-G-A c.793G>A p.V265M Missense 7/48 - 3
6-160450598-GTG-TTT c.793_795delinsTTT p.V265F Missense 7/48 - 1
6-160450601-AGG-TGT c.796_798delinsTGT p.R266C Missense 7/48 - 3
6-160450602-G-A c.797G>A p.R266K Missense 7/48 - 2
6-160450609-G-C c.804G>C p.E268D Missense 7/48 - 1
6-160450609-G-T c.804G>T p.E268D Missense 7/48 - 1
6-160450615-A-C c.810A>C p.G270= Synonymous 7/48 - 1
6-160450615-A-G c.810A>G p.G270= Synonymous 7/48 - 1
6-160450615-A-T c.810A>T p.G270= Synonymous 7/48 - 1
6-160450622-G-C c.817G>C p.D273H Missense 7/48 - 1
6-160450623-A-G c.818A>G p.D273G Missense 7/48 - 3
6-160450623-A-T c.818A>T p.D273V Missense 7/48 - 1
6-160450627-T-C c.822T>C p.F274= Synonymous 7/48 - 1
6-160450635-G-A c.830G>A p.G277D Missense 7/48 - 2
6-160450635-G-C c.830G>C p.G277A Missense 7/48 - 1
6-160450638-A-G c.833A>G p.H278R Missense 7/48 - 1
6-160450640-A-G c.835A>G p.S279G Missense 7/48 - 3
6-160450640-AG-GC c.835_836delinsGC p.S279A Missense 7/48 - 1
6-160450641-G-A c.836G>A p.S279N Missense 7/48 - 1
6-160450642-C-T c.837C>T p.S279= Synonymous 7/48 - 1
6-160450644-C-A c.839C>A p.P280H Missense 7/48 - 1
6-160450644-C-T c.839C>T p.P280L Missense 7/48 - 2
6-160450647-C-T c.842C>T p.A281V Missense 7/48 - 7
6-160450648-G-A c.843G>A p.A281= Synonymous 7/48 - 1
6-160450648-G-C c.843G>C p.A281= Synonymous 7/48 - 1
6-160450648-G-T c.843G>T p.A281= Synonymous 7/48 - 1
6-160450653-C-A c.848C>A p.T283N Missense 7/48 - 1
6-160450655-A-G c.850A>G p.I284V Missense 7/48 - 1
6-160450659-CA-TG c.854_855inv p.T285M Missense 7/48 - 1
6-160450659-C-T c.854C>T p.T285I Missense 7/48 - 1
6-160450668-G-A c.863G>A p.C288Y Missense 7/48 - 3
6-160450668-G-T c.863G>T p.C288F Missense 7/48 - 1
6-160450670-C-T c.865C>T p.P289S Missense 7/48 - 2
6-160450671-C-G c.866C>G p.P289R Missense 7/48 - 1
6-160450671-C-T c.866C>T p.P289L Missense 7/48 - 4
6-160450672-G-A c.867G>A p.P289= Synonymous 7/48 - 4
6-160450672-G-C c.867G>C p.P289= Synonymous 7/48 - 1
6-160450672-G-T c.867G>T p.P289= Synonymous 7/48 - 1
6-160450674-C-T c.869C>T p.S290L Missense 7/48 - 4
6-160450676-G-A c.871G>A p.E291K Missense 7/48 - 1
6-160450679-C-T c.874C>T p.R292W Missense 7/48 - 5
6-160450680-G-A c.875G>A p.R292Q Missense 7/48 - 2
6-160450682-A-G c.877A>G p.R293G Missense 7/48 - 1
6-160450682-AGA-CAT c.877_879delinsCAT p.R293H Missense 7/48 - 1
6-160450682-AGA-TGT c.877_879delinsTGT p.R293C Missense 7/48 - 1
6-160450682-A-T c.877A>T p.R293* Nonsense 7/48 - 1
6-160450874-C-T c.882+187C>T - IntronicSNV - 7/47 1
6-160453352-G-A c.883-231G>A - IntronicSNV - 7/47 1
6-160453561-T-G c.883-22T>G - IntronicSNV - 7/47 5
6-160453569-A-C c.883-14A>C - IntronicSNV - 7/47 1
6-160453569-A-G c.883-14A>G - IntronicSNV - 7/47 1
6-160453586-A-T c.886A>T p.T296S Missense 8/48 - 2
6-160453587-CC-GG c.887_888inv p.T296R Missense 8/48 - 1
6-160453587-C-G c.887C>G p.T296S Missense 8/48 - 2
6-160453587-C-T c.887C>T p.T296I Missense 8/48 - 3
6-160453591-T-C c.891T>C p.I297= Synonymous 8/48 - 1
6-160453598-C-T c.898C>T p.L300F Missense 8/48 - 1
6-160453599-T-C c.899T>C p.L300P Missense 8/48 - 1
6-160453601-A-G c.901A>G p.T301A Missense 8/48 - 2
6-160453604-G-A c.904G>A p.A302T Missense 8/48 - 2
6-160453607-A-G c.907A>G p.K303E Missense 8/48 - 1
6-160453608-A-G c.908A>G p.K303R Missense 8/48 - 1
6-160453610-TCC-GAG c.910_912delinsGAG p.S304E Missense 8/48 - 1
6-160453614-A-C c.914A>C p.N305T Missense 8/48 - 1
6-160453617-G-A c.917G>A p.C306Y Missense 8/48 - 1
6-160453618-C-T c.918C>T p.C306= Synonymous 8/48 - 1
6-160453619-CG-AT c.919_920delinsAT p.R307I Missense 8/48 - 1
6-160453619-C-T c.919C>T p.R307C Missense 8/48 - 1
6-160453620-G-A c.920G>A p.R307H Missense 8/48 - 2
6-160453621-C-A c.921C>A p.R307= Synonymous 8/48 - 1
6-160453621-C-G c.921C>G p.R307= Synonymous 8/48 - 1
6-160453621-C-T c.921C>T p.R307= Synonymous 8/48 - 1
6-160453622-T-C c.922T>C p.Y308H Missense 8/48 - 1
6-160453625-G-C c.925G>C p.E309Q Missense 8/48 - 1
6-160453627-A-C c.927A>C p.E309D Missense 8/48 - 1
6-160453627-A-T c.927A>T p.E309D Missense 8/48 - 1
6-160453636-G-T c.936G>T p.W312C Missense 8/48 - 1
6-160453638-T-C c.938T>C p.I313T Missense 8/48 - 1
6-160453642-T-A c.942T>A p.T314= Synonymous 8/48 - 2
6-160453642-T-C c.942T>C p.T314= Synonymous 8/48 - 2
6-160453642-T-G c.942T>G p.T314= Synonymous 8/48 - 2
6-160453643-G-C c.943G>C p.E315Q Missense 8/48 - 1
6-160453649-G-T c.949G>T p.A317S Missense 8/48 - 1
6-160453650-C-T c.950C>T p.A317V Missense 8/48 - 1
6-160453651-C-A c.951C>A p.A317= Synonymous 8/48 - 1
6-160453651-C-G c.951C>G p.A317= Synonymous 8/48 - 1
6-160453651-C-T c.951C>T p.A317= Synonymous 8/48 - 1
6-160453652-T-A c.952T>A p.C318S Missense 8/48 - 2
6-160453652-T-G c.952T>G p.C318G Missense 8/48 - 1
6-160453653-G-C c.953G>C p.C318S Missense 8/48 - 4
6-160453654-C-T c.954C>T p.C318= Synonymous 8/48 - 1
6-160453657-C-A c.957C>A p.H319Q Missense 8/48 - 2
6-160453657-C-G c.957C>G p.H319Q Missense 8/48 - 3
6-160453658-AG-CA c.958_959delinsCA p.R320Q Missense 8/48 - 1
6-160453658-A-T c.958A>T p.R320* Nonsense 8/48 - 2
6-160453659-G-A c.959G>A p.R320K Missense 8/48 - 1
6-160453661-G-C c.961G>C p.D321H Missense 8/48 - 1
6-160453670-G-A c.970G>A p.E324K Missense 8/48 - 1
6-160453674-G-A c.974G>A p.S325N Missense 8/48 - 1
6-160453686-C-A c.986C>A p.S329Y Missense 8/48 - 1
6-160453686-C-T c.986C>T p.S329F Missense 8/48 - 1
6-160453688-C-A c.988C>A p.L330M Missense 8/48 - 1
6-160453691-A-G c.991A>G p.S331G Missense 8/48 - 1
6-160453694-G-C c.994G>C p.G332R Missense 8/48 - 1
6-160453699-G-C c.999G>C p.E333D Missense 8/48 - 1
6-160453699-G-T c.999G>T p.E333D Missense 8/48 - 1
6-160453700-C-T c.1000C>T p.Q334* Nonsense 8/48 - 1
6-160453701-A-T c.1001A>T p.Q334L Missense 8/48 - 2
6-160453702-G-A c.1002G>A p.Q334= Synonymous 8/48 - 1
6-160453705-G-A c.1005G>A p.Q335= Synonymous 8/48 - 1
6-160453705-G-C c.1005G>C p.Q335H Missense 8/48 - 1
6-160453705-G-T c.1005G>T p.Q335H Missense 8/48 - 1
6-160453706-G-A c.1006G>A p.D336N Missense 8/48 - 1
6-160453707-A-T c.1007A>T p.D336V Missense 8/48 - 2
6-160453709-GTC-ATG c.1009_1011delinsATG p.V337M Missense 8/48 - 1
6-160453713-C-T c.1013C>T p.S338F Missense 8/48 - 6
6-160453715-A-C c.1015A>C p.I339L Missense 8/48 - 1
6-160453715-A-G c.1015A>G p.I339V Missense 8/48 - 3
6-160453715-A-T c.1015A>T p.I339L Missense 8/48 - 1
6-160453718-G-C c.1018G>C p.D340H Missense 8/48 - 1
6-160453724-A-G c.1024A>G p.T342A Missense 8/48 - 1
6-160453725-C-A c.1025C>A p.T342K Missense 8/48 - 1
6-160453725-C-T c.1025C>T p.T342I Missense 8/48 - 1
6-160453726-A-C c.1026A>C p.T342= Synonymous 8/48 - 2
6-160453726-A-G c.1026A>G p.T342= Synonymous 8/48 - 1
6-160453726-A-T c.1026A>T p.T342= Synonymous 8/48 - 1
6-160453728-C-G c.1028C>G p.P343R Missense 8/48 - 1
6-160453733-G-A c.1033G>A p.A345T Missense 8/48 - 1
6-160453733-G-T c.1033G>T p.A345S Missense 8/48 - 1
6-160453736-C-T c.1036C>T p.Q346* Nonsense 8/48 - 1
6-160453737-A-C c.1037A>C p.Q346P Missense 8/48 - 1
6-160453737-A-G c.1037A>G p.Q346R Missense 8/48 - 1
6-160453741-C-T c.1041C>T p.S347= Synonymous 8/48 - 1
6-160453742-G-A c.1042G>A p.G348R Missense 8/48 - 1
6-160453744-A-C c.1044A>C p.G348= Synonymous 8/48 - 2
6-160453744-A-G c.1044A>G p.G348= Synonymous 8/48 - 2
6-160453744-A-T c.1044A>T p.G348= Synonymous 8/48 - 2
6-160453795-G-A c.1045+50G>A - IntronicSNV - 8/47 1
6-160453974-G-A c.1046G>A p.G349D Missense 9/48 - 1
6-160453974-G-T c.1046G>T p.G349V Missense 9/48 - 1
6-160453976-T-C c.1048T>C p.S350P Missense 9/48 - 1
6-160453977-TCA-T c.1049_1050del p.S350Ffs*20 Frameshift 9/48 - 1
6-160453978-A-C c.1050A>C p.S350= Synonymous 9/48 - 4
6-160453978-A-G c.1050A>G p.S350= Synonymous 9/48 - 29
6-160453978-A-T c.1050A>T p.S350= Synonymous 9/48 - 4
6-160453983-A-C c.1055A>C p.Y352S Missense 9/48 - 1
6-160453983-A-G c.1055A>G p.Y352C Missense 9/48 - 3
6-160453985-A-C c.1057A>C p.I353L Missense 9/48 - 1
6-160453988-T-A c.1060T>A p.S354T Missense 9/48 - 1
6-160453991-G-A c.1063G>A p.D355N Missense 9/48 - 5
6-160453993-T-C c.1065T>C p.D355= Synonymous 9/48 - 1
6-160453994-G-A c.1066G>A p.G356R Missense 9/48 - 1
6-160453994-GGA-AGC c.1066_1068delinsAGC p.G356S Missense 9/48 - 3
6-160453995-G-C c.1067G>C p.G356A Missense 9/48 - 1
6-160453995-G-T c.1067G>T p.G356V Missense 9/48 - 1
6-160453997-A-T c.1069A>T p.K357* Nonsense 9/48 - 2
6-160453998-A-C c.1070A>C p.K357T Missense 9/48 - 2
6-160453999-A-G c.1071A>G p.K357= Synonymous 9/48 - 1
6-160454000-G-A c.1072G>A p.E358K Missense 9/48 - 1
6-160454000-G-T c.1072G>T p.E358* Nonsense 9/48 - 2
6-160454002-A-C c.1074A>C p.E358D Missense 9/48 - 1
6-160454002-A-T c.1074A>T p.E358D Missense 9/48 - 1
6-160454004-A-G c.1076A>G p.Y359C Missense 9/48 - 1
6-160454017-G-T c.1089G>T p.L363F Missense 9/48 - 1
6-160454021-G-A c.1093G>A p.V365I Missense 9/48 - 1
6-160454023-C-A c.1095C>A p.V365= Synonymous 9/48 - 1
6-160454023-C-G c.1095C>G p.V365= Synonymous 9/48 - 1
6-160454023-C-T c.1095C>T p.V365= Synonymous 9/48 - 1
6-160454024-T-C c.1096T>C p.C366R Missense 9/48 - 1
6-160454024-TG-AC c.1096_1097delinsAC p.C366T Missense 9/48 - 1
6-160454027-G-T c.1099G>T p.G367* Nonsense 9/48 - 2
6-160454030-G-T c.1102G>T p.E368* Nonsense 9/48 - 1
6-160454034-CT-TG c.1106_1107delinsTG p.T369M Missense 9/48 - 1
6-160454037-A-G c.1109A>G p.E370G Missense 9/48 - 2
6-160454038-A-G c.1110A>G p.E370= Synonymous 9/48 - 1
6-160454039-A-C c.1111A>C p.I371L Missense 9/48 - 1
6-160454039-A-G c.1111A>G p.I371V Missense 9/48 - 1
6-160454040-T-C c.1112T>C p.I371T Missense 9/48 - 1
6-160454042-C-T c.1114C>T p.Q372* Nonsense 9/48 - 1
6-160454048-TG-AC c.1120_1121delinsAC p.C374T Missense 9/48 - 1
6-160454049-G-GT c.1122dup p.N375* Nonsense 9/48 - 1
6-160454052-A-G c.1124A>G p.N375S Missense 9/48 - 1
6-160454055-A-C c.1127A>C p.K376T Missense 9/48 - 1
6-160454061-A-G c.1133A>G p.Q378R Missense 9/48 - 1
6-160454063-G-A c.1135G>A p.A379T Missense 9/48 - 2
6-160454066-G-A c.1138G>A p.A380T Missense 9/48 - 1
6-160454066-G-T c.1138G>T p.A380S Missense 9/48 - 2
6-160454067-C-A c.1139C>A p.A380E Missense 9/48 - 1
6-160454067-C-T c.1139C>T p.A380V Missense 9/48 - 1
6-160454069-G-C c.1141G>C p.V381L Missense 9/48 - 1
6-160454078-G-A c.1150G>A p.V384M Missense 9/48 - 3
6-160454083-A-G c.1155A>G p.K385= Synonymous 9/48 - 1
6-160454084-A-T c.1156A>T p.K386* Nonsense 9/48 - 1
6-160454088-G-A c.1160G>A p.S387N Missense 9/48 - 1
6-160454089-C-T c.1161C>T p.S387= Synonymous 9/48 - 3
6-160454090-G-A c.1162G>A p.D388N Missense 9/48 - 2
6-160454093-A-C c.1165A>C p.T389P Missense 9/48 - 1
6-160454095-C-A c.1167C>A p.T389= Synonymous 9/48 - 2
6-160454095-C-G c.1167C>G p.T389= Synonymous 9/48 - 2
6-160454095-C-T c.1167C>T p.T389= Synonymous 9/48 - 2
6-160454097-C-A c.1169C>A p.S390Y Missense 9/48 - 1
6-160454099-C-G c.1171C>G p.Q391E Missense 9/48 - 2
6-160454099-C-T c.1171C>T p.Q391* Nonsense 9/48 - 2
6-160454100-A-G c.1172A>G p.Q391R Missense 9/48 - 1
6-160454101-A-T c.1173A>T p.Q391H Missense 9/48 - 2
6-160454108-G-A c.1180G>A p.A394T Missense 9/48 - 1
6-160454117-A-C c.1189A>C p.R397= Synonymous 9/48 - 2
6-160454117-AGA-CAT c.1189_1191delinsCAT p.R397H Missense 9/48 - 1
6-160454117-AGA-TGG c.1189_1191delinsTGG p.R397W Missense 9/48 - 1
6-160454118-G-A c.1190G>A p.R397K Missense 9/48 - 1
6-160454119-A-G c.1191A>G p.R397= Synonymous 9/48 - 1
6-160454123-C-T c.1195C>T p.H399Y Missense 9/48 - 1
6-160454124-A-G c.1196A>G p.H399R Missense 9/48 - 1
6-160454129-C-G c.1201C>G p.Q401E Missense 9/48 - 1
6-160454131-G-A c.1203G>A p.Q401= Synonymous 9/48 - 1
6-160454132-A-G c.1204A>G p.T402A Missense 9/48 - 1
6-160454137-C-T c.1209C>T p.L403= Synonymous 9/48 - 3
6-160454141-T-C c.1211+2T>C - IntronicSNV - 9/47 1
6-160455254-G-A c.1212-197G>A - IntronicSNV - 9/47 2
6-160455456-C-G c.1217C>G p.S406W Missense 10/48 - 1
6-160455456-C-T c.1217C>T p.S406L Missense 10/48 - 4
6-160455458-G-GT c.1219_1220insT p.D407Vfs*12 Frameshift 10/48 - 1
6-160455458-G-T c.1219G>T p.D407Y Missense 10/48 - 1
6-160455460-T-A c.1221T>A p.D407E Missense 10/48 - 1
6-160455461-G-A c.1222G>A p.G408R Missense 10/48 - 1
6-160455461-G-T c.1222G>T p.G408* Nonsense 10/48 - 1
6-160455462-G-C c.1223G>C p.G408A Missense 10/48 - 1
6-160455462-G-T c.1223G>T p.G408V Missense 10/48 - 1
6-160455464-G-A c.1225G>A p.D409N Missense 10/48 - 1
6-160455465-A-T c.1226A>T p.D409V Missense 10/48 - 1
6-160455471-CC-GG c.1232_1233inv p.T411R Missense 10/48 - 1
6-160455478-A-G c.1239A>G p.I413M Missense 10/48 - 1
6-160455480-A-G c.1241A>G p.Y414C Missense 10/48 - 2
6-160455486-G-C c.1247G>C p.G416A Missense 10/48 - 1
6-160455487-A-T c.1248A>T p.G416= Synonymous 10/48 - 1
6-160455489-G-A c.1250G>A p.G417D Missense 10/48 - 1
6-160455491-G-A c.1252G>A p.D418N Missense 10/48 - 1
6-160455492-A-G c.1253A>G p.D418G Missense 10/48 - 1
6-160455493-T-A c.1254T>A p.D418E Missense 10/48 - 1
6-160455493-T-G c.1254T>G p.D418E Missense 10/48 - 1
6-160455496-A-G c.1257A>G p.E419= Synonymous 10/48 - 1
6-160455500-A-T c.1261A>T p.S421C Missense 10/48 - 1
6-160455496-ATGCAGCTCAGGGTTTCAGCGGATGAGCGTCATAAACTTTGAG-A c.1262_1303del p.S421_C434del InFrameDeletion 10/48 - 1
6-160455504-CA-TT c.1265_1266delinsTT p.S422F Missense 10/48 - 1
6-160455504-C-T c.1265C>T p.S422L Missense 10/48 - 1
6-160455507-G-T c.1268G>T p.G423V Missense 10/48 - 1
6-160455510-T-A c.1271T>A p.F424Y Missense 10/48 - 1
6-160455512-C-G c.1273C>G p.Q425E Missense 10/48 - 1
6-160455512-C-T c.1273C>T p.Q425* Nonsense 10/48 - 1
6-160455516-G-A c.1277G>A p.R426Q Missense 10/48 - 2
6-160455517-G-T c.1278G>T p.R426= Synonymous 10/48 - 1
6-160455519-T-C c.1280T>C p.M427T Missense 10/48 - 2
6-160455520-G-A c.1281G>A p.M427I Missense 10/48 - 2
6-160455520-G-C c.1281G>C p.M427I Missense 10/48 - 5
6-160455520-G-T c.1281G>T p.M427I Missense 10/48 - 2
6-160455521-AG-TA c.1282_1283delinsTA p.S428Y Missense 10/48 - 1
6-160455522-G-C c.1283G>C p.S428T Missense 10/48 - 1
6-160455523-C-T c.1284C>T p.S428= Synonymous 10/48 - 2
6-160455524-G-A c.1285G>A p.V429I Missense 10/48 - 1
6-160455525-T-A c.1286T>A p.V429D Missense 10/48 - 1
6-160455530-A-T c.1291A>T p.N431Y Missense 10/48 - 1
6-160455532-C-A c.1293C>A p.N431K Missense 10/48 - 1
6-160455534-T-G c.1295T>G p.F432C Missense 10/48 - 2
6-160455536-G-A c.1297G>A p.E433K Missense 10/48 - 1
6-160455550-C-G c.1311C>G p.T437= Synonymous 10/48 - 1
6-160455550-C-T c.1311C>T p.T437= Synonymous 10/48 - 1
6-160455551-G-A c.1312G>A p.A438T Missense 10/48 - 2
6-160455551-G-C c.1312G>C p.A438P Missense 10/48 - 1
6-160456020-A-G c.1315+466A>G - IntronicSNV - 10/47 1
6-160456163-C-T c.1315+609C>T - IntronicSNV - 10/47 2
6-160459205-G-T c.1316-2387G>T - IntronicSNV - 10/47 1
6-160460082-C-G c.1316-1510C>G - IntronicSNV - 10/47 1
6-160461334-A-G c.1316-258A>G - IntronicSNV - 10/47 2
6-160461519-C-T c.1316-73C>T - IntronicSNV - 10/47 1
6-160461592-G-A c.1316G>A p.G439D Missense 11/48 - 1
6-160461594-A-G c.1318A>G p.N440D Missense 11/48 - 1
6-160461597-G-A c.1321G>A p.D441N Missense 11/48 - 1
6-160461597-G-C c.1321G>C p.D441H Missense 11/48 - 1
6-160461597-G-T c.1321G>T p.D441Y Missense 11/48 - 3
6-160461600-G-A c.1324G>A p.G442R Missense 11/48 - 1
6-160461606-G-C c.1330G>C p.G444R Missense 11/48 - 1
6-160461607-G-C c.1331G>C p.G444A Missense 11/48 - 1
6-160461612-C-A c.1336C>A p.P446T Missense 11/48 - 1
6-160461613-C-T c.1337C>T p.P446L Missense 11/48 - 3
6-160461621-A-T c.1345A>T p.T449S Missense 11/48 - 1
6-160461622-C-A c.1346C>A p.T449K Missense 11/48 - 1
6-160461627-G-C c.1351G>C p.E451Q Missense 11/48 - 1
6-160461631-T-C c.1355T>C p.V452A Missense 11/48 - 2
6-160461636-T-C c.1360T>C p.C454R Missense 11/48 - 1
6-160461637-G-C c.1361G>C p.C454S Missense 11/48 - 1
6-160461643-A-C c.1367A>C p.Y456S Missense 11/48 - 1
6-160461647-C-G c.1371C>G p.F457L Missense 11/48 - 1
6-160461647-C-T c.1371C>T p.F457= Synonymous 11/48 - 1
6-160461661-C-T c.1385C>T p.T462M Missense 11/48 - 1
6-160461662-G-A c.1386G>A p.T462= Synonymous 11/48 - 2
6-160461664-A-G c.1388A>G p.E463G Missense 11/48 - 1
6-160461664-A-T c.1388A>T p.E463V Missense 11/48 - 1
6-160461669-G-A c.1393G>A p.A465T Missense 11/48 - 1
6-160461671-C-A c.1395C>A p.A465= Synonymous 11/48 - 1
6-160461671-C-G c.1395C>G p.A465= Synonymous 11/48 - 2
6-160461671-C-T c.1395C>T p.A465= Synonymous 11/48 - 1
6-160461672-TG-GC c.1396_1397delinsGC p.C466A Missense 11/48 - 1
6-160461681-G-C c.1405G>C p.E469Q Missense 11/48 - 1
6-160461687-G-C c.1411G>C p.E471Q Missense 11/48 - 1
6-160461689-A-C c.1413A>C p.E471D Missense 11/48 - 1
6-160461689-A-T c.1413A>T p.E471D Missense 11/48 - 1
6-160461690-G-T c.1414G>T p.D472Y Missense 11/48 - 2
6-160461691-A-G c.1415A>G p.D472G Missense 11/48 - 1
6-160461692-C-A c.1416C>A p.D472E Missense 11/48 - 1
6-160461693-C-A c.1417C>A p.L473I Missense 11/48 - 1
6-160461693-C-T c.1417C>T p.L473F Missense 11/48 - 1
6-160461695-C-A c.1419C>A p.L473= Synonymous 11/48 - 1
6-160461695-C-G c.1419C>G p.L473= Synonymous 11/48 - 1
6-160461695-C-T c.1419C>T p.L473= Synonymous 11/48 - 1
6-160461691-ACCT-A c.1420_1422del p.L474del InFrameDeletion 11/48 - 1
6-160461696-C-A c.1420C>A p.L474I Missense 11/48 - 1
6-160461698-C-A c.1422C>A p.L474= Synonymous 11/48 - 4
6-160461698-C-G c.1422C>G p.L474= Synonymous 11/48 - 4
6-160461698-C-T c.1422C>T p.L474= Synonymous 11/48 - 5
6-160461699-TG-AC c.1423_1424delinsAC p.C475T Missense 11/48 - 1
6-160461700-G-C c.1424G>C p.C475S Missense 11/48 - 1
6-160461701-C-T c.1425C>T p.C475= Synonymous 11/48 - 1
6-160461702-G-C c.1426G>C p.G476R Missense 11/48 - 2
6-160461702-G-T c.1426G>T p.G476C Missense 11/48 - 1
6-160461706-C-T c.1430C>T p.A477V Missense 11/48 - 1
6-160461709-CC-AG c.1433_1434delinsAG p.T478K Missense 11/48 - 1
6-160461711-G-A c.1435G>A p.D479N Missense 11/48 - 1
6-160461713-C-T c.1437C>T p.D479= Synonymous 11/48 - 1
6-160461714-G-A c.1438G>A p.G480R Missense 11/48 - 2
6-160461714-G-C c.1438G>C p.G480R Missense 11/48 - 2
6-160461714-G-T c.1438G>T p.G480W Missense 11/48 - 1
6-160461717-A-C c.1441A>C p.K481Q Missense 11/48 - 1
6-160461723-C-T c.1447C>T p.R483C Missense 11/48 - 3
6-160461724-G-A c.1448G>A p.R483H Missense 11/48 - 4
6-160461724-G-C c.1448G>C p.R483P Missense 11/48 - 1
6-160461725-C-A c.1449C>A p.R483= Synonymous 11/48 - 1
6-160461725-C-G c.1449C>G p.R483= Synonymous 11/48 - 1
6-160461725-C-T c.1449C>T p.R483= Synonymous 11/48 - 1
6-160461738-G-A c.1462G>A p.A488T Missense 11/48 - 1
6-160461738-GCG-CAT c.1462_1464delinsCAT p.A488H Missense 11/48 - 1
6-160461739-C-T c.1463C>T p.A488V Missense 11/48 - 1
6-160461742-TG-T c.1468del p.V490Sfs*67 Frameshift 11/48 - 1
6-160461744-G-T c.1468G>T p.V490F Missense 11/48 - 4
6-160461745-T-A c.1469T>A p.V490D Missense 11/48 - 1
6-160461746-CC-TT c.1470_1471delinsTT p.R491C Missense 11/48 - 1
6-160461747-CGC-AAG c.1471_1473delinsAAG p.R491K Missense 11/48 - 1
6-160461747-CGC-TGG c.1471_1473delinsTGG p.R491W Missense 11/48 - 1
6-160461747-C-T c.1471C>T p.R491C Missense 11/48 - 3
6-160461748-G-A c.1472G>A p.R491H Missense 11/48 - 1
6-160461754-C-A c.1478C>A p.A493E Missense 11/48 - 1
6-160461754-C-G c.1478C>G p.A493G Missense 11/48 - 2
6-160461755-A-C c.1479A>C p.A493= Synonymous 11/48 - 1
6-160461756-G-A c.1480G>A p.E494K Missense 11/48 - 1
6-160461793-T-C c.1480+37T>C - IntronicSNV - 11/47 2
6-160461793-T-G c.1480+37T>G - IntronicSNV - 11/47 2
6-160461839-T-C c.1480+83T>C - IntronicSNV - 11/47 1
6-160463936-G-A c.1481-244G>A - IntronicSNV - 11/47 1
6-160464183-C-G c.1484C>G p.P495R Missense 12/48 - 1
6-160464188-C-A c.1489C>A p.Q497K Missense 12/48 - 1
6-160464200-G-A c.1501G>A p.A501T Missense 12/48 - 1
6-160464212-A-T c.1513A>T p.S505C Missense 12/48 - 1
6-160464213-G-A c.1514G>A p.S505N Missense 12/48 - 2
6-160464216-A-G c.1517A>G p.Q506R Missense 12/48 - 1
6-160464217-G-A c.1518G>A p.Q506= Synonymous 12/48 - 1
6-160464220-G-A c.1521G>A p.T507= Synonymous 12/48 - 2
6-160464220-G-C c.1521G>C p.T507= Synonymous 12/48 - 2
6-160464220-G-T c.1521G>T p.T507= Synonymous 12/48 - 3
6-160464229-G-C c.1530G>C p.E510D Missense 12/48 - 2
6-160464229-G-T c.1530G>T p.E510D Missense 12/48 - 1
6-160464232-G-A c.1533G>A p.K511= Synonymous 12/48 - 1
6-160464233-A-C c.1534A>C p.K512Q Missense 12/48 - 2
6-160464233-A-T c.1534A>T p.K512* Nonsense 12/48 - 3
6-160464236-C-A c.1537C>A p.H513N Missense 12/48 - 1
6-160464238-T-A c.1539T>A p.H513Q Missense 12/48 - 2
6-160464238-T-G c.1539T>G p.H513Q Missense 12/48 - 2
6-160464241-T-A c.1542T>A p.F514L Missense 12/48 - 1
6-160464242-T-C c.1543T>C p.F515L Missense 12/48 - 1
6-160464244-C-A c.1545C>A p.F515L Missense 12/48 - 1
6-160464244-C-G c.1545C>G p.F515L Missense 12/48 - 1
6-160464237-A-AT c.1544dup p.I516Hfs*2 Frameshift 12/48 - 1
6-160464244-C-T c.1545C>T p.F515= Synonymous 12/48 - 3
6-160464245-A-T c.1546A>T p.I516F Missense 12/48 - 1
6-160464255-G-T c.1556G>T p.C519F Missense 12/48 - 1
6-160464258-A-G c.1559A>G p.H520R Missense 12/48 - 1
6-160464260-AGA-TGG c.1561_1563delinsTGG p.R521W Missense 12/48 - 1
6-160464260-AG-CA c.1561_1562delinsCA p.R521Q Missense 12/48 - 1
6-160464260-AG-CT c.1561_1562inv p.R521L Missense 12/48 - 1
6-160464260-A-T c.1561A>T p.R521* Nonsense 12/48 - 1
6-160464261-G-T c.1562G>T p.R521I Missense 12/48 - 2
6-160464263-G-A c.1564G>A p.V522M Missense 12/48 - 1
6-160464263-G-T c.1564G>T p.V522L Missense 12/48 - 1
6-160464269-C-T c.1570C>T p.Q524* Nonsense 12/48 - 1
6-160464271-G-GT c.1572_1573insT p.E525* Nonsense 12/48 - 2
6-160464270-AG-A c.1573del p.E525Kfs*32 Frameshift 12/48 - 1
6-160464274-A-C c.1575A>C p.E525D Missense 12/48 - 1
6-160464274-A-T c.1575A>T p.E525D Missense 12/48 - 1
6-160464273-AAGGC-A c.1576_1579del p.G526Rfs*30 Frameshift 12/48 - 1
6-160464278-A-C c.1579A>C p.K527Q Missense 12/48 - 1
6-160464282-C-A c.1583C>A p.A528E Missense 12/48 - 1
6-160464284-CGA-TGG c.1585_1587delinsTGG p.R529W Missense 12/48 - 1
6-160464285-G-A c.1586G>A p.R529Q Missense 12/48 - 4
6-160464285-G-C c.1586G>C p.R529P Missense 12/48 - 2
6-160464285-G-T c.1586G>T p.R529L Missense 12/48 - 2
6-160464288-G-C c.1589G>C p.G530A Missense 12/48 - 1
6-160464289-G-A c.1590G>A p.G530= Synonymous 12/48 - 20
6-160464289-G-C c.1590G>C p.G530= Synonymous 12/48 - 3
6-160464289-G-T c.1590G>T p.G530= Synonymous 12/48 - 3
6-160464290-T-A c.1591T>A p.C531S Missense 12/48 - 1
6-160464293-C-T c.1594C>T p.P532S Missense 12/48 - 1
6-160464294-C-A c.1595C>A p.P532H Missense 12/48 - 1
6-160464296-G-A c.1597G>A p.E533K Missense 12/48 - 6
6-160464296-G-C c.1597G>C p.E533Q Missense 12/48 - 1
6-160464299-G-A c.1600G>A p.D534N Missense 12/48 - 1
6-160464300-A-G c.1601A>G p.D534G Missense 12/48 - 1
6-160464302-G-A c.1603G>A p.A535T Missense 12/48 - 2
6-160464303-C-T c.1604C>T p.A535V Missense 12/48 - 3
6-160464305-G-A c.1606G>A p.A536T Missense 12/48 - 4
6-160464306-C-T c.1607C>T p.A536V Missense 12/48 - 1
6-160464308-G-C c.1609G>C p.V537L Missense 12/48 - 1
6-160464310-G-A c.1611G>A p.V537= Synonymous 12/48 - 1
6-160464310-G-C c.1611G>C p.V537= Synonymous 12/48 - 1
6-160464310-G-T c.1611G>T p.V537= Synonymous 12/48 - 1
6-160464311-T-C c.1612T>C p.C538R Missense 12/48 - 1
6-160464311-TG-AC c.1612_1613delinsAC p.C538T Missense 12/48 - 1
6-160464314-G-A c.1615G>A p.A539T Missense 12/48 - 1
6-160464321-G-A c.1621+1G>A - IntronicSNV - 12/47 1
6-160464553-A-C c.1621+233A>C - IntronicSNV - 12/47 1
6-160464869-G-A c.1621+549G>A - IntronicSNV - 12/47 1
6-160465421-G-A c.1622-125G>A - IntronicSNV - 12/47 2
6-160465421-G-T c.1622-125G>T - IntronicSNV - 12/47 2
6-160465456-C-T c.1622-90C>T - IntronicSNV - 12/47 1
6-160465547-T-A c.1623T>A p.D541E Missense 13/48 - 1
6-160465547-T-G c.1623T>G p.D541E Missense 13/48 - 1
6-160465549-A-G c.1625A>G p.K542R Missense 13/48 - 1
6-160465549-A-T c.1625A>T p.K542I Missense 13/48 - 1
6-160465552-A-G c.1628A>G p.N543S Missense 13/48 - 1
6-160465552-A-T c.1628A>T p.N543I Missense 13/48 - 1
6-160465554-GGA-AGC c.1630_1632delinsAGC p.G544S Missense 13/48 - 1
6-160465555-G-A c.1631G>A p.G544E Missense 13/48 - 1
6-160465557-AG-CC c.1633_1634delinsCC p.S545P Missense 13/48 - 1
6-160465566-C-A c.1642C>A p.L548M Missense 13/48 - 1
6-160465566-C-T c.1642C>T p.L548= Synonymous 13/48 - 1
6-160465569-G-A c.1645G>A p.G549R Missense 13/48 - 1
6-160465569-G-C c.1645G>C p.G549R Missense 13/48 - 1
6-160465571-A-C c.1647A>C p.G549= Synonymous 13/48 - 1
6-160465570-GA-G c.1650del p.K550Nfs*7 Frameshift 13/48 - 1
6-160465575-T-C c.1651T>C p.F551L Missense 13/48 - 1
6-160465577-T-A c.1653T>A p.F551L Missense 13/48 - 1
6-160465577-T-G c.1653T>G p.F551L Missense 13/48 - 1
6-160465580-T-G c.1656T>G p.I552M Missense 13/48 - 1
6-160465581-TC-AA c.1657_1658delinsAA p.S553N Missense 13/48 - 1
6-160465582-C-T c.1658C>T p.S553F Missense 13/48 - 1
6-160465585-C-T c.1661C>T p.S554F Missense 13/48 - 1
6-160465590-A-G c.1666A>G p.M556V Missense 13/48 - 1
6-160465607-ACATTCAACTCTCTTATTCAG-A c.1683_1702del p.N561Kfs*3 Frameshift 13/48 - 1
6-160465612-A-G c.1688A>G p.Q563R Missense 13/48 - 1
6-160465614-C-G c.1690C>G p.L564V Missense 13/48 - 1
6-160465614-C-T c.1690C>T p.L564F Missense 13/48 - 1
6-160465616-C-A c.1692C>A p.L564= Synonymous 13/48 - 1
6-160465616-C-G c.1692C>G p.L564= Synonymous 13/48 - 1
6-160465616-C-T c.1692C>T p.L564= Synonymous 13/48 - 2
6-160465618-C-T c.1694C>T p.S565F Missense 13/48 - 1
6-160465623-T-G c.1699T>G p.S567A Missense 13/48 - 3
6-160465624-C-T c.1700C>T p.S567L Missense 13/48 - 1
6-160465626-G-A c.1702G>A p.D568N Missense 13/48 - 1
6-160465631-T-A c.1707T>A p.G569= Synonymous 13/48 - 1
6-160465631-T-C c.1707T>C p.G569= Synonymous 13/48 - 1
6-160465631-T-G c.1707T>G p.G569= Synonymous 13/48 - 2
6-160465632-G-A c.1708G>A p.D570N Missense 13/48 - 1
6-160465637-T-A c.1713T>A p.D571E Missense 13/48 - 1
6-160465638-T-G c.1714T>G p.C572G Missense 13/48 - 1
6-160465639-G-A c.1715G>A p.C572Y Missense 13/48 - 1
6-160465641-G-A c.1717G>A p.G573S Missense 13/48 - 4
6-160465645-A-C c.1721A>C p.H574P Missense 13/48 - 1
6-160465652-G-T c.1728G>T p.K576N Missense 13/48 - 1
6-160465660-A-C c.1736A>C p.K579T Missense 13/48 - 5
6-160465662-A-G c.1738A>G p.T580A Missense 13/48 - 1
6-160465663-CT-TG c.1739_1740delinsTG p.T580M Missense 13/48 - 1
6-160465666-A-G c.1742A>G p.N581S Missense 13/48 - 1
6-160465670-C-G c.1746C>G p.I582M Missense 13/48 - 1
6-160465680-TG-AC c.1756_1757delinsAC p.C586T Missense 13/48 - 1
6-160465681-G-T c.1757G>T p.C586F Missense 13/48 - 2
6-160465682-C-A c.1758C>A p.C586* Nonsense 13/48 - 1
6-160465682-C-T c.1758C>T p.C586= Synonymous 13/48 - 1
6-160465731-C-A c.1765+42C>A - IntronicSNV - 13/47 1
6-160465753-T-C c.1765+64T>C - IntronicSNV - 13/47 4
6-160465753-T-G c.1765+64T>G - IntronicSNV - 13/47 5
6-160466781-T-C c.1770T>C p.D590= Synonymous 14/48 - 1
6-160466788-A-G c.1777A>G p.S593G Missense 14/48 - 2
6-160466789-G-C c.1778G>C p.S593T Missense 14/48 - 1
6-160466802-G-A c.1791G>A p.L597= Synonymous 14/48 - 1
6-160466803-A-T c.1792A>T p.R598* Nonsense 14/48 - 2
6-160466804-G-A c.1793G>A p.R598K Missense 14/48 - 1
6-160466807-C-A c.1796C>A p.T599N Missense 14/48 - 1
6-160466808-T-C c.1797T>C p.T599= Synonymous 14/48 - 2
6-160466809-TC-CG c.1798_1799delinsCG p.S600R Missense 14/48 - 1
6-160466810-C-G c.1799C>G p.S600C Missense 14/48 - 1
6-160466812-G-A c.1801G>A p.G601R Missense 14/48 - 1
6-160466812-G-C c.1801G>C p.G601R Missense 14/48 - 1
6-160466813-G-T c.1802G>T p.G601V Missense 14/48 - 1
6-160466820-C-A c.1809C>A p.G603= Synonymous 14/48 - 2
6-160466820-C-G c.1809C>G p.G603= Synonymous 14/48 - 1
6-160466820-C-T c.1809C>T p.G603= Synonymous 14/48 - 4
6-160466821-G-A c.1810G>A p.G604S Missense 14/48 - 2
6-160466823-T-C c.1812T>C p.G604= Synonymous 14/48 - 1
6-160466824-T-A c.1813T>A p.C605S Missense 14/48 - 1
6-160466825-G-C c.1814G>C p.C605S Missense 14/48 - 1
6-160466834-A-T c.1823A>T p.E608V Missense 14/48 - 1
6-160466836-T-C c.1825T>C p.F609L Missense 14/48 - 1
6-160466838-T-A c.1827T>A p.F609L Missense 14/48 - 1
6-160466838-T-G c.1827T>G p.F609L Missense 14/48 - 1
6-160466839-G-A c.1828G>A p.E610K Missense 14/48 - 1
6-160466839-G-T c.1828G>T p.E610* Nonsense 14/48 - 1
6-160466842-T-C c.1831T>C p.W611R Missense 14/48 - 1
6-160466849-C-G c.1838C>G p.T613R Missense 14/48 - 1
6-160466851-G-A c.1840G>A p.A614T Missense 14/48 - 1
6-160466855-C-T c.1844C>T p.A615V Missense 14/48 - 1
6-160466856-G-A c.1845G>A p.A615= Synonymous 14/48 - 2
6-160466856-G-C c.1845G>C p.A615= Synonymous 14/48 - 1
6-160466856-G-T c.1845G>T p.A615= Synonymous 14/48 - 2
6-160466858-C-G c.1847C>G p.A616G Missense 14/48 - 2
6-160466859-C-A c.1848C>A p.A616= Synonymous 14/48 - 2
6-160466859-C-G c.1848C>G p.A616= Synonymous 14/48 - 2
6-160466859-C-T c.1848C>T p.A616= Synonymous 14/48 - 2
6-160466861-G-C c.1850G>C p.C617S Missense 14/48 - 1
6-160466863-G-T c.1852G>T p.V618L Missense 14/48 - 1
6-160466866-C-A c.1855C>A p.L619M Missense 14/48 - 1
6-160466866-CTG-TTT c.1855_1857delinsTTT p.L619F Missense 14/48 - 1
6-160466869-T-C c.1858T>C p.S620P Missense 14/48 - 1
6-160466870-C-G c.1859C>G p.S620C Missense 14/48 - 3
6-160466870-C-T c.1859C>T p.S620F Missense 14/48 - 1
6-160466872-A-G c.1861A>G p.K621E Missense 14/48 - 1
6-160466873-A-G c.1862A>G p.K621R Missense 14/48 - 1
6-160466876-C-T c.1865C>T p.T622I Missense 14/48 - 2
6-160466882-G-T c.1871G>T p.G624V Missense 14/48 - 1
6-160466885-A-C c.1874A>C p.E625A Missense 14/48 - 1
6-160466886-G-C c.1875G>C p.E625D Missense 14/48 - 3
6-160466886-G-T c.1875G>T p.E625D Missense 14/48 - 2
6-160466889-C-A c.1878C>A p.N626K Missense 14/48 - 3
6-160466889-C-G c.1878C>G p.N626K Missense 14/48 - 5
6-160466892-C-A c.1881C>A p.C627* Nonsense 14/48 - 1
6-160466893-A-G c.1882A>G p.T628A Missense 14/48 - 1
6-160466894-C-T c.1883C>T p.T628M Missense 14/48 - 3
6-160466901-T-C c.1890T>C p.F630= Synonymous 14/48 - 1
6-160466902-G-A c.1891G>A p.D631N Missense 14/48 - 1
6-160466906-C-G c.1895C>G p.S632C Missense 14/48 - 1
6-160466906-C-T c.1895C>T p.S632F Missense 14/48 - 3
6-160466909-A-C c.1898A>C p.Q633P Missense 14/48 - 1
6-160466911-G-A c.1900G>A p.A634T Missense 14/48 - 1
6-160466911-G-C c.1900G>C p.A634P Missense 14/48 - 1
6-160466920-T-C c.1903+6T>C - IntronicSNV - 14/47 1
6-160467530-G-A c.1904G>A p.G635E Missense 15/48 - 2
6-160467533-T-G c.1907T>G p.F636C Missense 15/48 - 1
6-160467536-C-A c.1910C>A p.S637Y Missense 15/48 - 4
6-160467542-A-AC c.1917dup p.S641Ifs*11 Frameshift 15/48 - 1
6-160467555-C-A c.1929C>A p.L643= Synonymous 15/48 - 2
6-160467555-C-G c.1929C>G p.L643= Synonymous 15/48 - 2
6-160467555-C-T c.1929C>T p.L643= Synonymous 15/48 - 3
6-160467566-A-G c.1940A>G p.N647S Missense 15/48 - 1
6-160467567-T-C c.1941T>C p.N647= Synonymous 15/48 - 1
6-160467569-G-A c.1943G>A p.G648D Missense 15/48 - 1
6-160467569-G-C c.1943G>C p.G648A Missense 15/48 - 1
6-160467569-G-T c.1943G>T p.G648V Missense 15/48 - 1
6-160467570-T-C c.1944T>C p.G648= Synonymous 15/48 - 1
6-160467572-C-T c.1946C>T p.A649V Missense 15/48 - 1
6-160467575-A-G c.1949A>G p.Y650C Missense 15/48 - 1
6-160467577-A-G c.1951A>G p.K651E Missense 15/48 - 1
6-160467580-G-T c.1954G>T p.V652F Missense 15/48 - 2
6-160467581-T-C c.1955T>C p.V652A Missense 15/48 - 3
6-160467582-T-A c.1956T>A p.V652= Synonymous 15/48 - 1
6-160467582-T-C c.1956T>C p.V652= Synonymous 15/48 - 1
6-160467582-T-G c.1956T>G p.V652= Synonymous 15/48 - 1
6-160467586-A-G c.1960A>G p.T654A Missense 15/48 - 1
6-160467587-CA-C c.1964del p.K655Rfs*7 Frameshift 15/48 - 1
6-160467591-G-A c.1965G>A p.K655= Synonymous 15/48 - 1
6-160467592-A-G c.1966A>G p.K656E Missense 15/48 - 1
6-160467593-A-G c.1967A>G p.K656R Missense 15/48 - 1
6-160467594-G-C c.1968G>C p.K656N Missense 15/48 - 1
6-160467594-G-T c.1968G>T p.K656N Missense 15/48 - 1
6-160467595-T-G c.1969T>G p.Y657D Missense 15/48 - 3
6-160467598-G-A c.1972G>A p.D658N Missense 15/48 - 3
6-160467600-CT-C c.1978del p.Y660Ifs*2 Frameshift 15/48 - 1
6-160467608-T-C c.1982T>C p.I661T Missense 15/48 - 1
6-160467609-A-C c.1983A>C p.I661= Synonymous 15/48 - 1
6-160467609-A-T c.1983A>T p.I661= Synonymous 15/48 - 1
6-160467612-T-C c.1986T>C p.N662= Synonymous 15/48 - 1
6-160467619-G-A c.1993G>A p.G665S Missense 15/48 - 1
6-160467623-C-G c.1997C>G p.P666R Missense 15/48 - 1
6-160467623-C-T c.1997C>T p.P666L Missense 15/48 - 5
6-160467624-G-A c.1998G>A p.P666= Synonymous 15/48 - 1
6-160467627-G-C c.2001G>C p.V667= Synonymous 15/48 - 1
6-160467629-C-T c.2003C>T p.S668F Missense 15/48 - 1
6-160467632-T-G c.2006T>G p.V669G Missense 15/48 - 1
6-160467634-AG-CT c.2008_2009inv p.S670L Missense 15/48 - 1
6-160467635-G-C c.2009G>C p.S670T Missense 15/48 - 1
6-160467646-C-G c.2020C>G p.P674A Missense 15/48 - 1
6-160467647-C-G c.2021C>G p.P674R Missense 15/48 - 2
6-160467649-G-C c.2023G>C p.D675H Missense 15/48 - 1
6-160467651-C-T c.2025C>T p.D675= Synonymous 15/48 - 1
6-160467653-C-A c.2027C>A p.S676* Nonsense 15/48 - 1
6-160467653-C-G c.2027C>G p.S676* Nonsense 15/48 - 1
6-160467658-G-C c.2032G>C p.A678P Missense 15/48 - 1
6-160467665-A-G c.2039A>G p.Q680R Missense 15/48 - 1
6-160467666-G-A c.2040G>A p.Q680= Synonymous 15/48 - 1
6-160467666-G-C c.2040G>C p.Q680H Missense 15/48 - 1
6-160467666-G-T c.2040G>T p.Q680H Missense 15/48 - 1
6-160467670-G-A c.2044G>A p.A682T Missense 15/48 - 2
6-160467671-C-T c.2045C>T p.A682V Missense 15/48 - 1
6-160467674-A-C c.2048A>C p.K683T Missense 15/48 - 1
6-160467684-A-G c.2051+7A>G - IntronicSNV - 15/47 1
6-160467890-T-C c.2051+213T>C - IntronicSNV - 15/47 3
6-160468180-G-A c.2052-11G>A - IntronicSNV - 15/47 3
6-160468206-G-C c.2067G>C p.W689C Missense 16/48 - 1
6-160468207-A-G c.2068A>G p.N690D Missense 16/48 - 2
6-160468213-G-T c.2074G>T p.G692C Missense 16/48 - 2
6-160468226-C-T c.2087C>T p.A696V Missense 16/48 - 4
6-160468228-A-G c.2089A>G p.K697E Missense 16/48 - 2
6-160468231-C-T c.2092C>T p.L698F Missense 16/48 - 1
6-160468234-T-C c.2095T>C p.S699P Missense 16/48 - 1
6-160468234-TC-AT c.2095_2096delinsAT p.S699I Missense 16/48 - 1
6-160468236-A-G c.2097A>G p.S699= Synonymous 16/48 - 1
6-160468238-A-G c.2099A>G p.Y700C Missense 16/48 - 2
6-160468241-A-G c.2102A>G p.Y701C Missense 16/48 - 2
6-160468246-GG-AC c.2107_2108delinsAC p.G703T Missense 16/48 - 1
6-160468246-G-T c.2107G>T p.G703W Missense 16/48 - 2
6-160468250-T-G c.2111T>G p.M704R Missense 16/48 - 1
6-160468251-G-A c.2112G>A p.M704I Missense 16/48 - 2
6-160468257-A-C c.2118A>C p.Q706H Missense 16/48 - 1
6-160468262-A-G c.2123A>G p.N708S Missense 16/48 - 1
6-160468267-A-G c.2128A>G p.R710G Missense 16/48 - 1
6-160468270-G-A c.2131G>A p.G711S Missense 16/48 - 1
6-160468274-G-A c.2135G>A p.G712D Missense 16/48 - 1
6-160468277-C-T c.2138C>T p.T713I Missense 16/48 - 2
6-160468278-A-C c.2139A>C p.T713= Synonymous 16/48 - 5
6-160468278-A-G c.2139A>G p.T713= Synonymous 16/48 - 30
6-160468278-A-T c.2139A>T p.T713= Synonymous 16/48 - 5
6-160468279-C-G c.2140C>G p.P714A Missense 16/48 - 3
6-160468280-C-T c.2141C>T p.P714L Missense 16/48 - 1
6-160468286-A-G c.2147A>G p.N716S Missense 16/48 - 1
6-160468285-AACAATGAAAG-A c.2150_2159del p.N717Tfs*49 Frameshift 16/48 - 1
6-160468290-T-C c.2151T>C p.N717= Synonymous 16/48 - 1
6-160468291-G-A c.2152G>A p.E718K Missense 16/48 - 2
6-160468295-G-A c.2156G>A p.R719K Missense 16/48 - 1
6-160468295-G-C c.2156G>C p.R719T Missense 16/48 - 2
6-160468294-A-C c.2155A>C p.R719= Synonymous 16/48 - 1
6-160468296-A-G c.2157A>G p.R719= Synonymous 16/48 - 1
6-160468303-C-G c.2164C>G p.P722A Missense 16/48 - 1
6-160468304-C-T c.2165C>T p.P722L Missense 16/48 - 2
6-160468305-G-A c.2166G>A p.P722= Synonymous 16/48 - 1
6-160468305-G-C c.2166G>C p.P722= Synonymous 16/48 - 1
6-160468305-G-T c.2166G>T p.P722= Synonymous 16/48 - 1
6-160468309-G-A c.2170G>A p.A724T Missense 16/48 - 9
6-160468309-G-C c.2170G>C p.A724P Missense 16/48 - 2
6-160468309-G-T c.2170G>T p.A724S Missense 16/48 - 1
6-160468310-C-G c.2171C>G p.A724G Missense 16/48 - 4
6-160468311-T-A c.2172T>A p.A724= Synonymous 16/48 - 2
6-160468311-T-C c.2172T>C p.A724= Synonymous 16/48 - 2
6-160468311-T-G c.2172T>G p.A724= Synonymous 16/48 - 2
6-160468313-C-T c.2174C>T p.T725M Missense 16/48 - 5
6-160468314-G-A c.2175G>A p.T725= Synonymous 16/48 - 2
6-160468314-G-C c.2175G>C p.T725= Synonymous 16/48 - 2
6-160468314-G-T c.2175G>T p.T725= Synonymous 16/48 - 3
6-160468315-C-T c.2176C>T p.L726F Missense 16/48 - 1
6-160468320-C-A c.2181C>A p.I727= Synonymous 16/48 - 1
6-160468320-C-T c.2181C>T p.I727= Synonymous 16/48 - 1
6-160468322-C-T c.2183C>T p.T728I Missense 16/48 - 1
6-160468327-C-G c.2188C>G p.L730V Missense 16/48 - 1
6-160468330-T-A c.2191T>A p.C731S Missense 16/48 - 1
6-160468331-G-C c.2192G>C p.C731S Missense 16/48 - 1
6-160468332-T-A c.2193T>A p.C731* Nonsense 16/48 - 1
6-160468336-CGA-TGG c.2197_2199delinsTGG p.R733W Missense 16/48 - 1
6-160468337-G-A c.2198G>A p.R733Q Missense 16/48 - 1
6-160468337-G-GA c.2199dup p.D734Rfs*8 Frameshift 16/48 - 1
6-160468339-G-A c.2200G>A p.D734N Missense 16/48 - 2
6-160468340-A-T c.2201A>T p.D734V Missense 16/48 - 2
6-160468341-C-A c.2202C>A p.D734E Missense 16/48 - 1
6-160468341-C-G c.2202C>G p.D734E Missense 16/48 - 1
6-160468342-G-A c.2203G>A p.A735T Missense 16/48 - 2
6-160468342-G-T c.2203G>T p.A735S Missense 16/48 - 1
6-160468343-C-A c.2204C>A p.A735E Missense 16/48 - 1
6-160468343-C-T c.2204C>T p.A735V Missense 16/48 - 2
6-160468345-G-A c.2206G>A p.G736R Missense 16/48 - 1
6-160468345-G-C c.2206G>C p.G736R Missense 16/48 - 1
6-160468348-GTG-ATC c.2209_2211delinsATC p.V737I Missense 16/48 - 1
6-160468350-G-A c.2211G>A p.V737= Synonymous 16/48 - 1
6-160468350-G-C c.2211G>C p.V737= Synonymous 16/48 - 1
6-160468350-G-T c.2211G>T p.V737= Synonymous 16/48 - 1
6-160468351-G-C c.2212G>C p.G738R Missense 16/48 - 1
6-160468351-G-T c.2212G>T p.G738C Missense 16/48 - 3
6-160468352-G-A c.2213G>A p.G738D Missense 16/48 - 2
6-160468358-C-G c.2219C>G p.P740R Missense 16/48 - 1
6-160468364-A-G c.2225A>G p.Y742C Missense 16/48 - 2
6-160468366-C-G c.2227C>G p.Q743E Missense 16/48 - 1
6-160468367-A-C c.2228A>C p.Q743P Missense 16/48 - 1
6-160468367-A-T c.2228A>T p.Q743L Missense 16/48 - 1
6-160468368-G-C c.2229G>C p.Q743H Missense 16/48 - 1
6-160468368-G-T c.2229G>T p.Q743H Missense 16/48 - 1
6-160468383-T-A c.2229+15T>A - IntronicSNV - 16/47 11
6-160468383-T-C c.2229+15T>C - IntronicSNV - 16/47 13
6-160468553-A-G c.2229+185A>G - IntronicSNV - 16/47 1
6-160468669-G-A c.2230-155G>A - IntronicSNV - 16/47 1
6-160468803-C-T c.2230-21C>T - IntronicSNV - 16/47 1
6-160468824-G-A c.2230G>A p.E744K Missense 17/48 - 1
6-160468827-G-C c.2233G>C p.E745Q Missense 17/48 - 2
6-160468834-A-G c.2240A>G p.N747S Missense 17/48 - 1
6-160468835-C-T c.2241C>T p.N747= Synonymous 17/48 - 1
6-160468837-C-A c.2243C>A p.S748Y Missense 17/48 - 1
6-160468838-C-T c.2244C>T p.S748= Synonymous 17/48 - 2
6-160468844-C-T c.2250C>T p.Y750= Synonymous 17/48 - 1
6-160468846-A-G c.2252A>G p.N751S Missense 17/48 - 1
6-160468850-C-G c.2256C>G p.F752L Missense 17/48 - 1
6-160468850-C-T c.2256C>T p.F752= Synonymous 17/48 - 3
6-160468851-C-T c.2257C>T p.R753W Missense 17/48 - 3
6-160468852-G-A c.2258G>A p.R753Q Missense 17/48 - 3
6-160468858-A-G c.2264A>G p.Y755C Missense 17/48 - 1
6-160468858-A-T c.2264A>T p.Y755F Missense 17/48 - 2
6-160468859-C-A c.2265C>A p.Y755* Nonsense 17/48 - 3
6-160468859-C-G c.2265C>G p.Y755* Nonsense 17/48 - 2
6-160468860-AC-GG c.2266_2267delinsGG p.T756G Missense 17/48 - 1
6-160468861-C-A c.2267C>A p.T756N Missense 17/48 - 1
6-160468862-C-A c.2268C>A p.T756= Synonymous 17/48 - 2
6-160468862-C-G c.2268C>G p.T756= Synonymous 17/48 - 2
6-160468862-C-T c.2268C>T p.T756= Synonymous 17/48 - 2
6-160468867-A-C c.2273A>C p.Y758S Missense 17/48 - 1
6-160468867-A-G c.2273A>G p.Y758C Missense 17/48 - 1
6-160468869-G-A c.2275G>A p.A759T Missense 17/48 - 1
6-160468873-G-T c.2279G>T p.C760F Missense 17/48 - 1
6-160468875-C-A c.2281C>A p.P761T Missense 17/48 - 2
6-160468876-C-A c.2282C>A p.P761Q Missense 17/48 - 2
6-160468876-C-G c.2282C>G p.P761R Missense 17/48 - 1
6-160468876-C-T c.2282C>T p.P761L Missense 17/48 - 3
6-160468877-G-A c.2283G>A p.P761= Synonymous 17/48 - 1
6-160468877-G-C c.2283G>C p.P761= Synonymous 17/48 - 1
6-160468877-G-T c.2283G>T p.P761= Synonymous 17/48 - 1
6-160468878-G-A c.2284G>A p.E762K Missense 17/48 - 2
6-160468881-G-A c.2287G>A p.E763K Missense 17/48 - 1
6-160468885-C-G c.2291C>G p.P764R Missense 17/48 - 1
6-160468886-C-T c.2292C>T p.P764= Synonymous 17/48 - 1
6-160468895-C-T c.2301C>T p.C767= Synonymous 17/48 - 1
6-160468896-G-A c.2302G>A p.V768I Missense 17/48 - 2
6-160468897-T-A c.2303T>A p.V768E Missense 17/48 - 1
6-160468898-A-T c.2304A>T p.V768= Synonymous 17/48 - 1
6-160468899-G-C c.2305G>C p.V769L Missense 17/48 - 1
6-160468899-G-T c.2305G>T p.V769L Missense 17/48 - 1
6-160468904-C-T c.2310C>T p.T770= Synonymous 17/48 - 1
6-160468908-C-T c.2314C>T p.P772S Missense 17/48 - 2
6-160468909-C-T c.2315C>T p.P772L Missense 17/48 - 1
6-160468911-T-C c.2317T>C p.S773P Missense 17/48 - 1
6-160468915-C-T c.2321C>T p.T774M Missense 17/48 - 2
6-160468917-CTG-TTT c.2323_2325delinsTTT p.L775F Missense 17/48 - 1
6-160468922-G-A c.2328G>A p.E776= Synonymous 17/48 - 1
6-160468924-A-G c.2330A>G p.Q777R Missense 17/48 - 1
6-160468925-G-T c.2331G>T p.Q777H Missense 17/48 - 1
6-160468929-G-A c.2335G>A p.D779N Missense 17/48 - 8
6-160468932-CTC-ATG c.2338_2340delinsATG p.L780M Missense 17/48 - 1
6-160468936-C-G c.2342C>G p.S781C Missense 17/48 - 1
6-160468939-G-C c.2345G>C p.S782T Missense 17/48 - 1
6-160468947-A-G c.2345+8A>G - IntronicSNV - 17/47 1
6-160469099-T-A c.2345+160T>A - IntronicSNV - 17/47 2
6-160469149-G-A c.2345+210G>A - IntronicSNV - 17/47 3
6-160469408-C-G c.2347C>G p.L783V Missense 18/48 - 1
6-160469411-G-A c.2350G>A p.A784T Missense 18/48 - 1
6-160469411-G-T c.2350G>T p.A784S Missense 18/48 - 1
6-160469420-G-A c.2359G>A p.E787K Missense 18/48 - 1
6-160469420-G-C c.2359G>C p.E787Q Missense 18/48 - 1
6-160469421-A-G c.2360A>G p.E787G Missense 18/48 - 1
6-160469423-GGT-TGG c.2362_2364delinsTGG p.G788W Missense 18/48 - 1
6-160469427-GC-AG c.2366_2367delinsAG p.G789E Missense 18/48 - 1
6-160469428-C-A c.2367C>A p.G789= Synonymous 18/48 - 1
6-160469428-C-G c.2367C>G p.G789= Synonymous 18/48 - 1
6-160469428-C-T c.2367C>T p.G789= Synonymous 18/48 - 1
6-160469429-C-G c.2368C>G p.L790V Missense 18/48 - 1
6-160469432-G-A c.2371G>A p.G791R Missense 18/48 - 1
6-160469432-G-C c.2371G>C p.G791R Missense 18/48 - 1
6-160469434-A-G c.2373A>G p.G791= Synonymous 18/48 - 1
6-160469442-G-T c.2381G>T p.W794L Missense 18/48 - 1
6-160469447-G-A c.2386G>A p.A796T Missense 18/48 - 1
6-160469456-A-G c.2395A>G p.N799D Missense 18/48 - 1
6-160469460-C-A c.2399C>A p.S800* Nonsense 18/48 - 2
6-160469466-A-G c.2405A>G p.E802G Missense 18/48 - 1
6-160469469-A-G c.2408A>G p.H803R Missense 18/48 - 2
6-160469473-C-T c.2412C>T p.V804= Synonymous 18/48 - 1
6-160469475-C-A c.2414C>A p.T805K Missense 18/48 - 2
6-160469475-C-G c.2414C>G p.T805R Missense 18/48 - 2
6-160469475-C-T c.2414C>T p.T805M Missense 18/48 - 8
6-160469476-G-A c.2415G>A p.T805= Synonymous 18/48 - 1
6-160469478-G-A c.2417G>A p.W806* Nonsense 18/48 - 1
6-160469485-A-G c.2424A>G p.K808= Synonymous 18/48 - 1
6-160469488-C-T c.2427C>T p.Y809= Synonymous 18/48 - 1
6-160469492-A-G c.2431A>G p.I811V Missense 18/48 - 1
6-160469498-G-A c.2437G>A p.V813M Missense 18/48 - 2
6-160469498-GTG-ATC c.2437_2439delinsATC p.V813I Missense 18/48 - 1
6-160469504-C-A c.2443C>A p.R815= Synonymous 18/48 - 1
6-160469504-C-T c.2443C>T p.R815W Missense 18/48 - 2
6-160469506-G-A c.2445G>A p.R815= Synonymous 18/48 - 1
6-160469506-G-C c.2445G>C p.R815= Synonymous 18/48 - 1
6-160469506-G-T c.2445G>T p.R815= Synonymous 18/48 - 1
6-160469505-G-A c.2444G>A p.R815Q Missense 18/48 - 4
6-160469505-G-T c.2444G>T p.R815L Missense 18/48 - 1
6-160469508-C-T c.2447C>T p.P816L Missense 18/48 - 2
6-160469510-C-G c.2449C>G p.L817V Missense 18/48 - 17
6-160469510-C-T c.2449C>T p.L817= Synonymous 18/48 - 1
6-160469512-G-A c.2451G>A p.L817= Synonymous 18/48 - 1
6-160469512-G-C c.2451G>C p.L817= Synonymous 18/48 - 1
6-160469512-G-T c.2451G>T p.L817= Synonymous 18/48 - 1
6-160469516-C-T c.2455C>T p.P819S Missense 18/48 - 1
6-160469519-G-A c.2458G>A p.V820M Missense 18/48 - 1
6-160469520-T-C c.2459T>C p.V820A Missense 18/48 - 1
6-160469526-G-C c.2465G>C p.G822A Missense 18/48 - 2
6-160469529-G-A c.2468G>A p.C823Y Missense 18/48 - 1
6-160469532-A-G c.2471A>G p.N824S Missense 18/48 - 1
6-160469534-C-T c.2473C>T p.R825* Nonsense 18/48 - 1
6-160469535-G-A c.2474G>A p.R825Q Missense 18/48 - 2
6-160469535-G-T c.2474G>T p.R825L Missense 18/48 - 1
6-160469539-T-A c.2478T>A p.Y826* Nonsense 18/48 - 1
6-160469539-T-G c.2478T>G p.Y826* Nonsense 18/48 - 2
6-160469540-G-A c.2479G>A p.A827T Missense 18/48 - 1
6-160469542-A-G c.2481A>G p.A827= Synonymous 18/48 - 2
6-160469544-C-T c.2483C>T p.S828L Missense 18/48 - 3
6-160469546-G-A c.2485G>A p.A829T Missense 18/48 - 2
6-160469547-C-T c.2486C>T p.A829V Missense 18/48 - 1
6-160469549-T-G c.2488T>G p.C830G Missense 18/48 - 1
6-160469550-G-T c.2489G>T p.C830F Missense 18/48 - 1
6-160469550-TGCCAGA-T c.2489_2494del p.C830_M832delinsL MultiAAMissense 18/48 - 1
6-160469553-A-G c.2492A>G p.Q831R Missense 18/48 - 1
6-160469555-A-C c.2494A>C p.M832L Missense 18/48 - 1
6-160469555-A-T c.2494A>T p.M832L Missense 18/48 - 1
6-160469556-T-C c.2495T>C p.M832T Missense 18/48 - 1
6-160469562-A-G c.2501A>G p.Y834C Missense 18/48 - 1
6-160469564-G-A c.2503G>A p.E835K Missense 18/48 - 1
6-160469564-G-C c.2503G>C p.E835Q Missense 18/48 - 2
6-160469565-A-C c.2504A>C p.E835A Missense 18/48 - 1
6-160469565-A-G c.2504A>G p.E835G Missense 18/48 - 2
6-160469570-G-C c.2509G>C p.D837H Missense 18/48 - 1
6-160469570-G-T c.2509G>T p.D837Y Missense 18/48 - 1
6-160469571-A-G c.2510A>G p.D837G Missense 18/48 - 2
6-160469573-C-T c.2512C>T p.Q838* Nonsense 18/48 - 1
6-160469947-C-G c.2514+372C>G - IntronicSNV - 18/47 1
6-160469947-C-T c.2514+372C>T - IntronicSNV - 18/47 1
6-160471191-T-G c.2515-314T>G - IntronicSNV - 18/47 1
6-160471506-G-A c.2516G>A p.G839D Missense 19/48 - 1
6-160471506-GC-AG c.2516_2517delinsAG p.G839E Missense 19/48 - 1
6-160471509-C-T c.2519C>T p.S840F Missense 19/48 - 1
6-160471514-A-G c.2524A>G p.T842A Missense 19/48 - 1
6-160471524-T-C c.2534T>C p.V845A Missense 19/48 - 1
6-160471526-T-G c.2536T>G p.S846A Missense 19/48 - 2
6-160471529-A-G c.2539A>G p.I847V Missense 19/48 - 1
6-160471535-A-G c.2545A>G p.N849D Missense 19/48 - 1
6-160471537-C-T c.2547C>T p.N849= Synonymous 19/48 - 2
6-160471538-T-G c.2548T>G p.L850V Missense 19/48 - 1
6-160471539-T-C c.2549T>C p.L850S Missense 19/48 - 2
6-160471542-G-C c.2552G>C p.G851A Missense 19/48 - 1
6-160471546-G-A c.2556G>A p.M852I Missense 19/48 - 1
6-160471547-G-A c.2557G>A p.A853T Missense 19/48 - 4
6-160471548-C-T c.2558C>T p.A853V Missense 19/48 - 1
6-160471551-A-C c.2561A>C p.K854T Missense 19/48 - 2
6-160471554-CC-AG c.2564_2565delinsAG p.T855K Missense 19/48 - 1
6-160471555-C-A c.2565C>A p.T855= Synonymous 19/48 - 1
6-160471555-C-G c.2565C>G p.T855= Synonymous 19/48 - 1
6-160471555-C-T c.2565C>T p.T855= Synonymous 19/48 - 5
6-160471556-G-A c.2566G>A p.G856S Missense 19/48 - 4
6-160471556-G-C c.2566G>C p.G856R Missense 19/48 - 1
6-160471557-G-C c.2567G>C p.G856A Missense 19/48 - 1
6-160471558-C-G c.2568C>G p.G856= Synonymous 19/48 - 2
6-160471559-C-T c.2569C>T p.P857S Missense 19/48 - 1
6-160471560-C-T c.2570C>T p.P857L Missense 19/48 - 5
6-160471561-G-A c.2571G>A p.P857= Synonymous 19/48 - 2
6-160471563-T-C c.2573T>C p.V858A Missense 19/48 - 1
6-160471570-G-A c.2580G>A p.E860= Synonymous 19/48 - 1
6-160471577-G-A c.2587G>A p.G863S Missense 19/48 - 1
6-160471578-G-A c.2588G>A p.G863D Missense 19/48 - 2
6-160471578-G-C c.2588G>C p.G863A Missense 19/48 - 1
6-160471581-G-C c.2591G>C p.S864T Missense 19/48 - 1
6-160471585-C-A c.2595C>A p.L865= Synonymous 19/48 - 1
6-160471585-C-G c.2595C>G p.L865= Synonymous 19/48 - 1
6-160471585-C-T c.2595C>T p.L865= Synonymous 19/48 - 2
6-160471586-C-A c.2596C>A p.L866I Missense 19/48 - 1
6-160471586-C-T c.2596C>T p.L866F Missense 19/48 - 2
6-160471588-T-C c.2598T>C p.L866= Synonymous 19/48 - 1
6-160471596-A-G c.2606A>G p.Y869C Missense 19/48 - 3
6-160471596-A-T c.2606A>T p.Y869F Missense 19/48 - 1
6-160471598-G-A c.2608G>A p.V870M Missense 19/48 - 1
6-160471602-A-G c.2612A>G p.N871S Missense 19/48 - 1
6-160471605-G-C c.2615G>C p.G872A Missense 19/48 - 1
6-160471608-C-T c.2618C>T p.S873L Missense 19/48 - 4
6-160471610-G-A c.2620G>A p.A874T Missense 19/48 - 1
6-160471611-C-A c.2621C>A p.A874D Missense 19/48 - 1
6-160471611-C-T c.2621C>T p.A874V Missense 19/48 - 1
6-160471612-C-A c.2622C>A p.A874= Synonymous 19/48 - 3
6-160471612-C-G c.2622C>G p.A874= Synonymous 19/48 - 2
6-160471612-C-T c.2622C>T p.A874= Synonymous 19/48 - 2
6-160471613-TG-AC c.2623_2624delinsAC p.C875T Missense 19/48 - 2
6-160471614-G-T c.2624G>T p.C875F Missense 19/48 - 1
6-160471616-A-G c.2626A>G p.T876A Missense 19/48 - 1
6-160471617-C-T c.2627C>T p.T876I Missense 19/48 - 1
6-160471619-A-G c.2629A>G p.T877A Missense 19/48 - 3
6-160471622-A-G c.2632A>G p.S878G Missense 19/48 - 4
6-160471623-G-A c.2633G>A p.S878N Missense 19/48 - 1
6-160471625-G-A c.2635G>A p.D879N Missense 19/48 - 1
6-160471628-G-A c.2638G>A p.G880S Missense 19/48 - 1
6-160471629-G-A c.2639G>A p.G880D Missense 19/48 - 2
6-160471630-C-A c.2640C>A p.G880= Synonymous 19/48 - 1
6-160471630-C-G c.2640C>G p.G880= Synonymous 19/48 - 1
6-160471630-C-T c.2640C>T p.G880= Synonymous 19/48 - 1
6-160471636-G-T c.2646G>T p.Q882H Missense 19/48 - 1
6-160471640-A-G c.2650A>G p.T884A Missense 19/48 - 1
6-160471643-T-G c.2653T>G p.Y885D Missense 19/48 - 1
6-160471646-A-T c.2656A>T p.T886S Missense 19/48 - 1
6-160471647-C-G c.2657C>G p.T886S Missense 19/48 - 1
6-160471648-C-A c.2658C>A p.T886= Synonymous 19/48 - 1
6-160471650-C-T c.2660C>T p.T887M Missense 19/48 - 2
6-160471651-G-A c.2661G>A p.T887= Synonymous 19/48 - 2
6-160471652-AGG-CAT c.2662_2664delinsCAT p.R888H Missense 19/48 - 1
6-160471654-G-C c.2664G>C p.R888S Missense 19/48 - 1
6-160471658-C-G c.2668C>G p.H890D Missense 19/48 - 1
6-160471663-C-T c.2673C>T p.L891= Synonymous 19/48 - 2
6-160471666-C-A c.2676C>A p.V892= Synonymous 19/48 - 1
6-160471666-C-G c.2676C>G p.V892= Synonymous 19/48 - 1
6-160471666-C-T c.2676C>T p.V892= Synonymous 19/48 - 2
6-160471677-G-A c.2687G>A p.G896D Missense 19/48 - 2
6-160471752-C-T c.2694+68C>T - IntronicSNV - 19/47 2
6-160476945-C-T c.2695-511C>T - IntronicSNV - 19/47 1
6-160477458-C-T c.2697C>T p.N899= Synonymous 20/48 - 1
6-160477462-C-T c.2701C>T p.H901Y Missense 20/48 - 1
6-160477465-C-T c.2704C>T p.P902S Missense 20/48 - 2
6-160477466-C-T c.2705C>T p.P902L Missense 20/48 - 3
6-160477467-C-A c.2706C>A p.P902= Synonymous 20/48 - 1
6-160477467-C-G c.2706C>G p.P902= Synonymous 20/48 - 1
6-160477467-C-T c.2706C>T p.P902= Synonymous 20/48 - 1
6-160477475-C-T c.2714C>T p.S905F Missense 20/48 - 1
6-160477476-T-A c.2715T>A p.S905= Synonymous 20/48 - 1
6-160477476-T-C c.2715T>C p.S905= Synonymous 20/48 - 1
6-160477476-T-G c.2715T>G p.S905= Synonymous 20/48 - 1
6-160477477-C-G c.2716C>G p.L906V Missense 20/48 - 1
6-160477477-C-T c.2716C>T p.L906F Missense 20/48 - 1
6-160477479-C-A c.2718C>A p.L906= Synonymous 20/48 - 1
6-160477479-C-G c.2718C>G p.L906= Synonymous 20/48 - 2
6-160477479-C-T c.2718C>T p.L906= Synonymous 20/48 - 1
6-160477485-G-C c.2724G>C p.W908C Missense 20/48 - 1
6-160477485-G-T c.2724G>T p.W908C Missense 20/48 - 1
6-160477489-T-C c.2728T>C p.C910R Missense 20/48 - 2
6-160477508-G-A c.2747G>A p.W916* Nonsense 20/48 - 2
6-160477509-G-A c.2748G>A p.W916* Nonsense 20/48 - 3
6-160477511-A-G c.2750A>G p.N917S Missense 20/48 - 1
6-160477512-C-A c.2751C>A p.N917K Missense 20/48 - 1
6-160477512-C-G c.2751C>G p.N917K Missense 20/48 - 1
6-160477514-C-T c.2753C>T p.T918I Missense 20/48 - 1
6-160477520-C-T c.2759C>T p.A920V Missense 20/48 - 1
6-160477522-G-T c.2761G>T p.A921S Missense 20/48 - 1
6-160477523-C-A c.2762C>A p.A921D Missense 20/48 - 1
6-160477525-T-C c.2764T>C p.C922R Missense 20/48 - 1
6-160477529-C-T c.2768C>T p.P923L Missense 20/48 - 2
6-160477533-T-G c.2772T>G p.I924M Missense 20/48 - 1
6-160477534-C-A c.2773C>A p.Q925K Missense 20/48 - 1
6-160477534-C-G c.2773C>G p.Q925E Missense 20/48 - 6
6-160477534-C-T c.2773C>T p.Q925* Nonsense 20/48 - 4
6-160477541-C-T c.2780C>T p.T927M Missense 20/48 - 8
6-160477544-C-T c.2783C>T p.T928M Missense 20/48 - 2
6-160477545-G-A c.2784G>A p.T928= Synonymous 20/48 - 3
6-160477545-G-C c.2784G>C p.T928= Synonymous 20/48 - 1
6-160477545-G-T c.2784G>T p.T928= Synonymous 20/48 - 1
6-160477546-G-A c.2785G>A p.D929N Missense 20/48 - 1
6-160477548-T-C c.2787T>C p.D929= Synonymous 20/48 - 1
6-160477556-A-G c.2795A>G p.Q932R Missense 20/48 - 1
6-160477557-G-C c.2796G>C p.Q932H Missense 20/48 - 1
6-160477557-G-T c.2796G>T p.Q932H Missense 20/48 - 1
6-160477556-AG-A c.2796+1del - IntronicDeletion - 20/47 1
6-160477638-C-T c.2796+81C>T - IntronicSNV - 20/47 1
6-160477798-G-GT c.2796+244dup - IntronicInsertion - 20/47 1
6-160477798-GT-G c.2796+244del - IntronicDeletion - 20/47 1
6-160478789-A-G c.2797-266A>G - IntronicSNV - 20/47 1
6-160479055-G-A c.2797G>A p.A933T Missense 21/48 - 1
6-160479062-C-G c.2804C>G p.S935C Missense 21/48 - 1
6-160479063-T-C c.2805T>C p.S935= Synonymous 21/48 - 1
6-160479066-A-G c.2808A>G p.I936M Missense 21/48 - 2
6-160479069-G-T c.2811G>T p.R937S Missense 21/48 - 1
6-160479070-G-A c.2812G>A p.D938N Missense 21/48 - 1
6-160479096-T-C c.2838T>C p.N946= Synonymous 21/48 - 1
6-160479100-A-T c.2842A>T p.N948Y Missense 21/48 - 1
6-160479103-C-T c.2845C>T p.P949S Missense 21/48 - 2
6-160479104-C-T c.2846C>T p.P949L Missense 21/48 - 2
6-160479106-C-T c.2848C>T p.L950= Synonymous 21/48 - 1
6-160479110-A-G c.2852A>G p.N951S Missense 21/48 - 1
6-160479116-C-A c.2858C>A p.S953* Nonsense 21/48 - 1
6-160479116-C-T c.2858C>T p.S953L Missense 21/48 - 6
6-160479118-C-T c.2860C>T p.Q954* Nonsense 21/48 - 1
6-160479122-G-A c.2864G>A p.G955E Missense 21/48 - 1
6-160479125-A-G c.2867A>G p.Y956C Missense 21/48 - 1
6-160479128-A-G c.2870A>G p.N957S Missense 21/48 - 2
6-160479132-C-A c.2874C>A p.V958= Synonymous 21/48 - 1
6-160479132-C-G c.2874C>G p.V958= Synonymous 21/48 - 1
6-160479132-C-T c.2874C>T p.V958= Synonymous 21/48 - 1
6-160479137-G-C c.2879G>C p.G960A Missense 21/48 - 2
6-160479143-G-A c.2885G>A p.G962E Missense 21/48 - 1
6-160479148-A-T c.2890A>T p.I964F Missense 21/48 - 1
6-160479149-T-A c.2891T>A p.I964N Missense 21/48 - 2
6-160479149-TTTTTA-T c.2893_2897del p.F965Vfs*2 SpliceDonorDeletion 21/48 - 1
6-160479207-G-A c.2898+51G>A - IntronicSNV - 21/47 1
6-160479478-G-A c.2898+322G>A - IntronicSNV - 21/47 1
6-160479789-A-G c.2899-149A>G - IntronicSNV - 21/47 2
6-160479882-G-A c.2899-56G>A - IntronicSNV - 21/47 2
6-160479924-C-T c.2899-14C>T - IntronicSNV - 21/47 1
6-160479941-A-C c.2902A>C p.N968H Missense 22/48 - 1
6-160479941-A-G c.2902A>G p.N968D Missense 22/48 - 1
6-160479942-A-G c.2903A>G p.N968S Missense 22/48 - 1
6-160479946-C-T c.2907C>T p.V969= Synonymous 22/48 - 2
6-160479949-C-T c.2910C>T p.C970= Synonymous 22/48 - 1
6-160479950-G-A c.2911G>A p.G971S Missense 22/48 - 3
6-160479956-A-G c.2917A>G p.M973V Missense 22/48 - 2
6-160479957-T-C c.2918T>C p.M973T Missense 22/48 - 1
6-160479959-C-T c.2920C>T p.P974S Missense 22/48 - 1
6-160479960-C-T c.2921C>T p.P974L Missense 22/48 - 1
6-160479962-G-A c.2923G>A p.V975I Missense 22/48 - 2
6-160479962-G-T c.2923G>T p.V975F Missense 22/48 - 1
6-160479965-TG-AC c.2926_2927delinsAC p.C976T Missense 22/48 - 1
6-160479967-T-C c.2928T>C p.C976= Synonymous 22/48 - 1
6-160479968-G-A c.2929G>A p.G977R Missense 22/48 - 1
6-160479968-G-C c.2929G>C p.G977R Missense 22/48 - 1
6-160479970-G-A c.2931G>A p.G977= Synonymous 22/48 - 1
6-160479970-G-C c.2931G>C p.G977= Synonymous 22/48 - 1
6-160479970-G-T c.2931G>T p.G977= Synonymous 22/48 - 2
6-160479971-A-G c.2932A>G p.T978A Missense 22/48 - 1
6-160479972-C-G c.2933C>G p.T978S Missense 22/48 - 1
6-160479976-C-T c.2937C>T p.I979= Synonymous 22/48 - 2
6-160479977-C-G c.2938C>G p.L980V Missense 22/48 - 1
6-160479981-G-A c.2942G>A p.G981E Missense 22/48 - 1
6-160479983-A-T c.2944A>T p.K982* Nonsense 22/48 - 1
6-160479989-G-A c.2950G>A p.A984T Missense 22/48 - 1
6-160479990-C-T c.2951C>T p.A984V Missense 22/48 - 2
6-160479993-C-T c.2954C>T p.S985F Missense 22/48 - 1
6-160479996-G-A c.2957G>A p.G986D Missense 22/48 - 2
6-160479997-C-A c.2958C>A p.G986= Synonymous 22/48 - 1
6-160480002-A-T c.2963A>T p.E988V Missense 22/48 - 1
6-160480004-G-T c.2965G>T p.A989S Missense 22/48 - 2
6-160480005-C-G c.2966C>G p.A989G Missense 22/48 - 1
6-160480014-A-G c.2975A>G p.Q992R Missense 22/48 - 1
6-160480019-G-A c.2980G>A p.E994K Missense 22/48 - 1
6-160480022-G-C c.2983G>C p.E995Q Missense 22/48 - 1
6-160480023-GA-G c.2984del p.E995Gfs*27 Frameshift 22/48 - 1
6-160480030-G-A c.2991G>A p.K997= Synonymous 22/48 - 1
6-160480030-G-C c.2991G>C p.K997N Missense 22/48 - 3
6-160480035-G-A c.2996G>A p.W999* Nonsense 22/48 - 1
6-160480035-G-T c.2996G>T p.W999L Missense 22/48 - 3
6-160480043-G-A c.3004G>A p.A1002T Missense 22/48 - 1
6-160480052-G-T c.3013G>T p.V1005F Missense 22/48 - 1
6-160480055-G-T c.3016G>T p.G1006* Nonsense 22/48 - 1
6-160480060-T-A c.3021T>A p.I1007= Synonymous 22/48 - 1
6-160480061-G-A c.3022G>A p.E1008K Missense 22/48 - 1
6-160480062-A-G c.3023A>G p.E1008G Missense 22/48 - 1
6-160480068-G-GC c.3031dup p.L1011Pfs*24 Frameshift 22/48 - 1
6-160480072-C-A c.3033C>A p.L1011= Synonymous 22/48 - 1
6-160480072-C-G c.3033C>G p.L1011= Synonymous 22/48 - 1
6-160480072-C-T c.3033C>T p.L1011= Synonymous 22/48 - 1
6-160480076-C-G c.3037C>G p.L1013V Missense 22/48 - 2
6-160480077-T-A c.3038T>A p.L1013Q Missense 22/48 - 1
6-160480080-C-T c.3041C>T p.S1014F Missense 22/48 - 1
6-160480091-T-C c.3052T>C p.F1018L Missense 22/48 - 1
6-160480091-T-G c.3052T>G p.F1018V Missense 22/48 - 3
6-160480093-C-G c.3054C>G p.F1018L Missense 22/48 - 1
6-160480092-T-G c.3053T>G p.F1018C Missense 22/48 - 1
6-160480093-C-A c.3054C>A p.F1018L Missense 22/48 - 3
6-160480093-C-T c.3054C>T p.F1018= Synonymous 22/48 - 1
6-160480096-C-A c.3057C>A p.I1019= Synonymous 22/48 - 1
6-160480103-A-G c.3064A>G p.T1022A Missense 22/48 - 1
6-160480115-C-A c.3076C>A p.P1026T Missense 22/48 - 1
6-160480115-C-T c.3076C>T p.P1026S Missense 22/48 - 2
6-160480116-C-G c.3077C>G p.P1026R Missense 22/48 - 1
6-160480125-C-T c.3086C>T p.A1029V Missense 22/48 - 1
6-160480128-A-C c.3089A>C p.K1030T Missense 22/48 - 2
6-160480130-G-C c.3091G>C p.G1031R Missense 22/48 - 2
6-160480130-G-T c.3091G>T p.G1031C Missense 22/48 - 1
6-160480177-G-T c.3091+47G>T - IntronicSNV - 22/47 1
6-160481537-T-C c.3092-42T>C - IntronicSNV - 22/47 3
6-160481579-G-A c.3092G>A p.G1031D Missense 23/48 - 3
6-160481582-C-T c.3095C>T p.T1032I Missense 23/48 - 1
6-160481583-C-A c.3096C>A p.T1032= Synonymous 23/48 - 1
6-160481583-C-G c.3096C>G p.T1032= Synonymous 23/48 - 1
6-160481583-C-T c.3096C>T p.T1032= Synonymous 23/48 - 3
6-160481584-G-A c.3097G>A p.A1033T Missense 23/48 - 1
6-160481584-G-T c.3097G>T p.A1033S Missense 23/48 - 1
6-160481588-A-ATTT c.3102_3103insTTT p.D1034_A1035insF InFrameInsertion 23/48 - 1
6-160481589-T-A c.3102T>A p.D1034E Missense 23/48 - 1
6-160481589-T-G c.3102T>G p.D1034E Missense 23/48 - 1
6-160481598-C-A c.3111C>A p.I1037= Synonymous 23/48 - 1
6-160481598-C-T c.3111C>T p.I1037= Synonymous 23/48 - 5
6-160481599-G-A c.3112G>A p.V1038I Missense 23/48 - 2
6-160481601-C-T c.3114C>T p.V1038= Synonymous 23/48 - 1
6-160481602-CGC-TGA c.3115_3117delinsTGA p.R1039* Nonsense 23/48 - 1
6-160481602-C-T c.3115C>T p.R1039C Missense 23/48 - 4
6-160481603-G-A c.3116G>A p.R1039H Missense 23/48 - 7
6-160481608-G-T c.3121G>T p.V1041F Missense 23/48 - 2
6-160481611-TG-AC c.3124_3125delinsAC p.C1042T Missense 23/48 - 1
6-160481615-A-G c.3128A>G p.N1043S Missense 23/48 - 3
6-160481615-A-T c.3128A>T p.N1043I Missense 23/48 - 1
6-160481616-T-G c.3129T>G p.N1043K Missense 23/48 - 1
6-160481619-T-A c.3132T>A p.D1044E Missense 23/48 - 1
6-160481621-A-C c.3134A>C p.D1045A Missense 23/48 - 3
6-160481626-T-C c.3139T>C p.Y1047H Missense 23/48 - 1
6-160481630-C-G c.3143C>G p.S1048* Nonsense 23/48 - 2
6-160481630-C-T c.3143C>T p.S1048L Missense 23/48 - 1
6-160481638-C-G c.3151C>G p.L1051V Missense 23/48 - 1
6-160481640-C-A c.3153C>A p.L1051= Synonymous 23/48 - 1
6-160481640-C-G c.3153C>G p.L1051= Synonymous 23/48 - 2
6-160481640-C-T c.3153C>T p.L1051= Synonymous 23/48 - 1
6-160481641-A-G c.3154A>G p.K1052E Missense 23/48 - 5
6-160481647-C-T c.3160C>T p.L1054= Synonymous 23/48 - 2
6-160481649-G-A c.3162G>A p.L1054= Synonymous 23/48 - 2
6-160481649-G-C c.3162G>C p.L1054= Synonymous 23/48 - 2
6-160481649-G-T c.3162G>T p.L1054= Synonymous 23/48 - 2
6-160481653-C-G c.3166C>G p.Q1056E Missense 23/48 - 2
6-160481656-G-T c.3169G>T p.D1057Y Missense 23/48 - 1
6-160481658-T-A c.3171T>A p.D1057E Missense 23/48 - 1
6-160481658-T-G c.3171T>G p.D1057E Missense 23/48 - 1
6-160481660-T-C c.3173T>C p.I1058T Missense 23/48 - 1
6-160481662-G-A c.3175G>A p.D1059N Missense 23/48 - 2
6-160481664-C-T c.3177C>T p.D1059= Synonymous 23/48 - 1
6-160481668-GGG-TGT c.3181_3183delinsTGT p.G1061C Missense 23/48 - 1
6-160481672-A-G c.3185A>G p.Q1062R Missense 23/48 - 1
6-160481675-G-C c.3188G>C p.G1063A Missense 23/48 - 1
6-160481680-C-T c.3193C>T p.R1065* Nonsense 23/48 - 3
6-160481681-G-A c.3194G>A p.R1065Q Missense 23/48 - 2
6-160481684-A-G c.3197A>G p.N1066S Missense 23/48 - 1
6-160481686-A-G c.3199A>G p.T1067A Missense 23/48 - 1
6-160481687-C-G c.3200C>G p.T1067S Missense 23/48 - 1
6-160481687-C-T c.3200C>T p.T1067I Missense 23/48 - 1
6-160481695-G-A c.3208G>A p.E1070K Missense 23/48 - 1
6-160481697-G-GT c.3213dup p.E1072* Nonsense 23/48 - 1
6-160481701-G-A c.3214G>A p.E1072K Missense 23/48 - 1
6-160481705-C-A c.3218C>A p.T1073N Missense 23/48 - 1
6-160481707-G-A c.3220G>A p.A1074T Missense 23/48 - 6
6-160481708-C-T c.3221C>T p.A1074V Missense 23/48 - 4
6-160481709-G-A c.3222G>A p.A1074= Synonymous 23/48 - 3
6-160481709-G-C c.3222G>C p.A1074= Synonymous 23/48 - 2
6-160481709-G-T c.3222G>T p.A1074= Synonymous 23/48 - 2
6-160481710-T-C c.3223T>C p.L1075= Synonymous 23/48 - 1
6-160481712-G-A c.3225G>A p.L1075= Synonymous 23/48 - 1
6-160481714-C-A c.3227C>A p.A1076D Missense 23/48 - 1
6-160481714-C-T c.3227C>T p.A1076V Missense 23/48 - 1
6-160481717-G-T c.3230G>T p.C1077F Missense 23/48 - 1
6-160481719-G-A c.3232G>A p.V1078I Missense 23/48 - 1
6-160481723-C-T c.3236C>T p.P1079L Missense 23/48 - 2
6-160481731-G-A c.3244G>A p.V1082M Missense 23/48 - 2
6-160481735-A-G c.3248A>G p.D1083G Missense 23/48 - 1
6-160481740-C-A c.3253C>A p.Q1085K Missense 23/48 - 1
6-160481743-G-C c.3256G>C p.V1086L Missense 23/48 - 1
6-160481744-T-C c.3257T>C p.V1086A Missense 23/48 - 1
6-160481748-C-A c.3261C>A p.T1087= Synonymous 23/48 - 1
6-160481748-C-G c.3261C>G p.T1087= Synonymous 23/48 - 1
6-160481748-C-T c.3261C>T p.T1087= Synonymous 23/48 - 1
6-160481749-G-A c.3262G>A p.D1088N Missense 23/48 - 1
6-160481749-G-T c.3262G>T p.D1088Y Missense 23/48 - 2
6-160482069-GA-G c.3262+329del - IntronicDeletion - 23/47 1
6-160482513-G-A c.3263-22G>A - IntronicSNV - 23/47 1
6-160482535-A-T c.3263A>T p.D1088V Missense 24/48 - 1
6-160482536-C-T c.3264C>T p.D1088= Synonymous 24/48 - 3
6-160482540-G-A c.3268G>A p.A1090T Missense 24/48 - 3
6-160482540-G-T c.3268G>T p.A1090S Missense 24/48 - 1
6-160482544-G-A c.3272G>A p.G1091E Missense 24/48 - 1
6-160482546-A-G c.3274A>G p.N1092D Missense 24/48 - 1
6-160482553-A-G c.3281A>G p.Y1094C Missense 24/48 - 1
6-160482554-C-T c.3282C>T p.Y1094= Synonymous 24/48 - 2
6-160482559-T-A c.3287T>A p.L1096Q Missense 24/48 - 1
6-160482564-G-A c.3292G>A p.G1098S Missense 24/48 - 2
6-160482564-G-C c.3292G>C p.G1098R Missense 24/48 - 1
6-160482574-C-A c.3302C>A p.T1101K Missense 24/48 - 1
6-160482576-G-A c.3304G>A p.V1102I Missense 24/48 - 1
6-160482577-T-C c.3305T>C p.V1102A Missense 24/48 - 1
6-160482579-AGG-CAT c.3307_3309delinsCAT p.R1103H Missense 24/48 - 1
6-160482581-G-C c.3309G>C p.R1103S Missense 24/48 - 1
6-160482581-G-T c.3309G>T p.R1103S Missense 24/48 - 2
6-160482584-A-C c.3312A>C p.K1104N Missense 24/48 - 1
6-160482584-A-T c.3312A>T p.K1104N Missense 24/48 - 1
6-160482586-C-T c.3314C>T p.P1105L Missense 24/48 - 1
6-160482588-T-G c.3316T>G p.W1106G Missense 24/48 - 1
6-160482591-A-G c.3319A>G p.T1107A Missense 24/48 - 1
6-160482592-C-T c.3320C>T p.T1107M Missense 24/48 - 5
6-160482594-G-A c.3322G>A p.A1108T Missense 24/48 - 1
6-160482594-G-C c.3322G>C p.A1108P Missense 24/48 - 1
6-160482598-T-A c.3326T>A p.V1109D Missense 24/48 - 1
6-160482600-G-A c.3328G>A p.D1110N Missense 24/48 - 1
6-160482600-G-T c.3328G>T p.D1110Y Missense 24/48 - 1
6-160482607-C-A c.3335C>A p.S1112Y Missense 24/48 - 1
6-160482607-C-G c.3335C>G p.S1112C Missense 24/48 - 1
6-160482612-G-A c.3340G>A p.D1114N Missense 24/48 - 2
6-160482630-T-A c.3358T>A p.F1120I Missense 24/48 - 1
6-160482632-C-T c.3360C>T p.F1120= Synonymous 24/48 - 1
6-160482634-A-G c.3362A>G p.Y1121C Missense 24/48 - 1
6-160482636-TT-GC c.3364_3365delinsGC p.L1122A Missense 24/48 - 1
6-160482640-G-T c.3368G>T p.S1123I Missense 24/48 - 1
6-160482642-G-A c.3370G>A p.V1124I Missense 24/48 - 5
6-160482646-G-T c.3374G>T p.C1125F Missense 24/48 - 1
6-160482649-A-G c.3377A>G p.N1126S Missense 24/48 - 7
6-160482650-T-C c.3378T>C p.N1126= Synonymous 24/48 - 1
6-160482653-T-A c.3381T>A p.P1127= Synonymous 24/48 - 1
6-160482653-T-C c.3381T>C p.P1127= Synonymous 24/48 - 1
6-160482653-T-G c.3381T>G p.P1127= Synonymous 24/48 - 1
6-160482654-C-G c.3382C>G p.L1128V Missense 24/48 - 1
6-160482654-C-T c.3382C>T p.L1128F Missense 24/48 - 1
6-160482656-C-A c.3384C>A p.L1128= Synonymous 24/48 - 1
6-160482656-C-T c.3384C>T p.L1128= Synonymous 24/48 - 4
6-160482657-C-T c.3385C>T p.P1129S Missense 24/48 - 2
6-160482661-A-T c.3389A>T p.Y1130F Missense 24/48 - 1
6-160482666-C-T c.3394C>T p.P1132S Missense 24/48 - 1
6-160482667-C-T c.3395C>T p.P1132L Missense 24/48 - 1
6-160482672-TG-AC c.3400_3401delinsAC p.C1134T Missense 24/48 - 1
6-160482676-A-G c.3404A>G p.Q1135R Missense 24/48 - 1
6-160482678-G-C c.3406G>C p.G1136R Missense 24/48 - 1
6-160482689-C-A c.3406+11C>A - IntronicSNV - 24/47 1
6-160482691-T-C c.3406+13T>C - IntronicSNV - 24/47 1
6-160482790-G-A c.3412G>A p.A1138T Missense 25/48 - 4
6-160482791-C-T c.3413C>T p.A1138V Missense 25/48 - 2
6-160482793-G-A c.3415G>A p.V1139M Missense 25/48 - 1
6-160482796-GG-AC c.3418_3419delinsAC p.G1140T Missense 25/48 - 1
6-160482796-G-T c.3418G>T p.G1140W Missense 25/48 - 1
6-160482797-G-A c.3419G>A p.G1140E Missense 25/48 - 1
6-160482799-T-C c.3421T>C p.S1141P Missense 25/48 - 1
6-160482800-C-A c.3422C>A p.S1141Y Missense 25/48 - 1
6-160482802-TG-GC c.3424_3425delinsGC p.C1142A Missense 25/48 - 1
6-160482804-C-A c.3426C>A p.C1142* Nonsense 25/48 - 1
6-160482806-T-C c.3428T>C p.L1143S Missense 25/48 - 1
6-160482828-G-T c.3450G>T p.W1150C Missense 25/48 - 2
6-160482833-T-C c.3455T>C p.L1152P Missense 25/48 - 1
6-160482832-C-T c.3454C>T p.L1152= Synonymous 25/48 - 1
6-160482834-G-A c.3456G>A p.L1152= Synonymous 25/48 - 2
6-160482834-G-C c.3456G>C p.L1152= Synonymous 25/48 - 1
6-160482834-G-T c.3456G>T p.L1152= Synonymous 25/48 - 1
6-160482835-G-C c.3457G>C p.G1153R Missense 25/48 - 1
6-160482836-G-C c.3458G>C p.G1153A Missense 25/48 - 1
6-160482842-T-C c.3464T>C p.V1155A Missense 25/48 - 2
6-160482846-G-A c.3468G>A p.Q1156= Synonymous 25/48 - 1
6-160482847-A-T c.3469A>T p.M1157L Missense 25/48 - 1
6-160482851-G-C c.3473G>C p.S1158T Missense 25/48 - 1
6-160482851-G-T c.3473G>T p.S1158I Missense 25/48 - 1
6-160482856-C-T c.3478C>T p.Q1160* Nonsense 25/48 - 1
6-160482862-G-A c.3484G>A p.A1162T Missense 25/48 - 5
6-160482866-C-T c.3488C>T p.A1163V Missense 25/48 - 4
6-160482867-G-A c.3489G>A p.A1163= Synonymous 25/48 - 2
6-160482867-G-C c.3489G>C p.A1163= Synonymous 25/48 - 1
6-160482867-G-T c.3489G>T p.A1163= Synonymous 25/48 - 1
6-160482871-G-A c.3493G>A p.G1165R Missense 25/48 - 1
6-160482871-G-C c.3493G>C p.G1165R Missense 25/48 - 2
6-160482872-G-C c.3494G>C p.G1165A Missense 25/48 - 1
6-160482877-T-C c.3499T>C p.L1167= Synonymous 25/48 - 1
6-160482879-G-A c.3501G>A p.L1167= Synonymous 25/48 - 1
6-160482881-G-A c.3503G>A p.S1168N Missense 25/48 - 2
6-160482885-C-A c.3507C>A p.I1169= Synonymous 25/48 - 5
6-160482885-C-T c.3507C>T p.I1169= Synonymous 25/48 - 6
6-160482886-A-G c.3508A>G p.M1170V Missense 25/48 - 2
6-160482887-T-C c.3509T>C p.M1170T Missense 25/48 - 1
6-160482889-T-C c.3511T>C p.Y1171H Missense 25/48 - 1
6-160482892-G-A c.3514G>A p.V1172I Missense 25/48 - 1
6-160482897-C-T c.3519C>T p.N1173= Synonymous 25/48 - 2
6-160482898-G-A c.3520G>A p.G1174S Missense 25/48 - 1
6-160482901-G-A c.3523G>A p.D1175N Missense 25/48 - 1
6-160482902-A-G c.3524A>G p.D1175G Missense 25/48 - 1
6-160482911-GG-AC c.3533_3534delinsAC p.G1178D Missense 25/48 - 1
6-160482914-A-C c.3536A>C p.N1179T Missense 25/48 - 1
6-160482916-C-T c.3538C>T p.Q1180* Nonsense 25/48 - 1
6-160482919-C-T c.3541C>T p.R1181C Missense 25/48 - 3
6-160482920-G-A c.3542G>A p.R1181H Missense 25/48 - 1
6-160482925-TC-AA c.3547_3548delinsAA p.S1183N Missense 25/48 - 1
6-160482928-AC-TG c.3550_3551delinsTG p.T1184C Missense 25/48 - 1
6-160482928-A-T c.3550A>T p.T1184S Missense 25/48 - 2
6-160482929-C-G c.3551C>G p.T1184S Missense 25/48 - 6
6-160482929-C-T c.3551C>T p.T1184I Missense 25/48 - 2
6-160482930-C-A c.3552C>A p.T1184= Synonymous 25/48 - 1
6-160482930-C-T c.3552C>T p.T1184= Synonymous 25/48 - 1
6-160482931-A-G c.3553A>G p.R1185G Missense 25/48 - 2
6-160482931-AGG-TGT c.3553_3555delinsTGT p.R1185C Missense 25/48 - 1
6-160482936-C-G c.3558C>G p.I1186M Missense 25/48 - 1
6-160482938-C-T c.3560C>T p.T1187M Missense 25/48 - 1
6-160482939-G-A c.3561G>A p.T1187= Synonymous 25/48 - 2
6-160482939-G-C c.3561G>C p.T1187= Synonymous 25/48 - 1
6-160482939-G-T c.3561G>T p.T1187= Synonymous 25/48 - 2
6-160482941-T-G c.3563T>G p.F1188C Missense 25/48 - 1
6-160482943-G-A c.3565G>A p.E1189K Missense 25/48 - 1
6-160482947-G-T c.3569G>T p.C1190F Missense 25/48 - 1
6-160482952-C-A c.3574C>A p.Q1192K Missense 25/48 - 2
6-160482959-C-T c.3581C>T p.S1194L Missense 25/48 - 6
6-160482960-G-A c.3582G>A p.S1194= Synonymous 25/48 - 3
6-160482960-G-C c.3582G>C p.S1194= Synonymous 25/48 - 2
6-160482960-G-T c.3582G>T p.S1194= Synonymous 25/48 - 2
6-160482961-G-A c.3582+1G>A - IntronicSNV - 25/47 1
6-160483144-G-A c.3582+184G>A - IntronicSNV - 25/47 1
6-160483568-C-T c.3587C>T p.S1196L Missense 26/48 - 1
6-160483570-C-A c.3589C>A p.P1197T Missense 26/48 - 1
6-160483574-C-G c.3593C>G p.A1198G Missense 26/48 - 1
6-160483581-G-C c.3600G>C p.Q1200H Missense 26/48 - 2
6-160483581-G-T c.3600G>T p.Q1200H Missense 26/48 - 2
6-160483582-C-A c.3601C>A p.L1201I Missense 26/48 - 1
6-160483586-A-C c.3605A>C p.Q1202P Missense 26/48 - 1
6-160483588-G-A c.3607G>A p.D1203N Missense 26/48 - 1
6-160483591-G-A c.3610G>A p.G1204S Missense 26/48 - 1
6-160483598-A-G c.3617A>G p.E1206G Missense 26/48 - 1
6-160483601-A-G c.3620A>G p.Y1207C Missense 26/48 - 1
6-160483603-G-A c.3622G>A p.V1208M Missense 26/48 - 5
6-160483609-A-G c.3628A>G p.I1210V Missense 26/48 - 1
6-160483611-C-A c.3630C>A p.I1210= Synonymous 26/48 - 1
6-160483611-C-G c.3630C>G p.I1210M Missense 26/48 - 1
6-160483611-C-T c.3630C>T p.I1210= Synonymous 26/48 - 1
6-160483621-G-A c.3640G>A p.V1214M Missense 26/48 - 1
6-160483621-GTG-ATC c.3640_3642delinsATC p.V1214I Missense 26/48 - 1
6-160483627-G-A c.3646G>A p.A1216T Missense 26/48 - 1
6-160483629-C-T c.3648C>T p.A1216= Synonymous 26/48 - 1
6-160483631-G-C c.3650G>C p.C1217S Missense 26/48 - 1
6-160483631-G-T c.3650G>T p.C1217F Missense 26/48 - 1
6-160483632-T-C c.3651T>C p.C1217= Synonymous 26/48 - 1
6-160483635-C-A c.3654C>A p.P1218= Synonymous 26/48 - 1
6-160483635-C-G c.3654C>G p.P1218= Synonymous 26/48 - 2
6-160483635-C-T c.3654C>T p.P1218= Synonymous 26/48 - 1
6-160483636-G-A c.3655G>A p.V1219I Missense 26/48 - 2
6-160483639-G-T c.3658G>T p.V1220F Missense 26/48 - 1
6-160483643-G-C c.3662G>C p.R1221T Missense 26/48 - 1
6-160483651-G-T c.3670G>T p.G1224W Missense 26/48 - 1
6-160483652-G-C c.3670+1G>C - IntronicSNV - 26/47 1
6-160483733-G-A c.3670+82G>A - IntronicSNV - 26/47 2
6-160483801-CT-C c.3670+160del - IntronicDeletion - 26/47 1
6-160484321-A-G c.3671-126A>G - IntronicSNV - 26/47 2
6-160484321-A-T c.3671-126A>T - IntronicSNV - 26/47 2
6-160484447-G-A c.3671G>A p.G1224E Missense 27/48 - 1
6-160484449-G-T c.3673G>T p.D1225Y Missense 27/48 - 2
6-160484453-A-G c.3677A>G p.N1226S Missense 27/48 - 2
6-160484458-G-T c.3682G>T p.E1228* Nonsense 27/48 - 1
6-160484463-G-A c.3687G>A p.V1229= Synonymous 27/48 - 3
6-160484463-G-C c.3687G>C p.V1229= Synonymous 27/48 - 1
6-160484463-G-T c.3687G>T p.V1229= Synonymous 27/48 - 1
6-160484464-A-T c.3688A>T p.K1230* Nonsense 27/48 - 1
6-160484469-C-A c.3693C>A p.D1231E Missense 27/48 - 2
6-160484469-C-G c.3693C>G p.D1231E Missense 27/48 - 3
6-160484470-C-A c.3694C>A p.P1232T Missense 27/48 - 1
6-160484473-A-G c.3697A>G p.R1233G Missense 27/48 - 1
6-160484473-A-C c.3697A>C p.R1233= Synonymous 27/48 - 1
6-160484475-G-A c.3699G>A p.R1233= Synonymous 27/48 - 1
6-160484480-G-A c.3704G>A p.G1235D Missense 27/48 - 1
6-160484483-A-T c.3707A>T p.N1236I Missense 27/48 - 2
6-160484484-C-G c.3708C>G p.N1236K Missense 27/48 - 1
6-160484489-A-G c.3713A>G p.Y1238C Missense 27/48 - 1
6-160484494-C-G c.3718C>G p.L1240V Missense 27/48 - 10
6-160484506-G-T c.3730G>T p.G1244C Missense 27/48 - 1
6-160484509-C-T c.3733C>T p.L1245F Missense 27/48 - 1
6-160484513-A-G c.3737A>G p.N1246S Missense 27/48 - 2
6-160484515-G-A c.3739G>A p.D1247N Missense 27/48 - 3
6-160484515-G-T c.3739G>T p.D1247Y Missense 27/48 - 1
6-160484516-A-G c.3740A>G p.D1247G Missense 27/48 - 1
6-160484518-A-G c.3742A>G p.T1248A Missense 27/48 - 1
6-160484522-T-C c.3746T>C p.I1249T Missense 27/48 - 1
6-160484524-GTG-ATC c.3748_3750delinsATC p.V1250I Missense 27/48 - 1
6-160484525-T-C c.3749T>C p.V1250A Missense 27/48 - 1
6-160484530-G-A c.3754G>A p.A1252T Missense 27/48 - 3
6-160484535-C-A c.3759C>A p.G1253= Synonymous 27/48 - 1
6-160484535-C-G c.3759C>G p.G1253= Synonymous 27/48 - 1
6-160484535-C-T c.3759C>T p.G1253= Synonymous 27/48 - 1
6-160484536-G-A c.3760G>A p.E1254K Missense 27/48 - 1
6-160484537-A-C c.3761A>C p.E1254A Missense 27/48 - 2
6-160484543-C-G c.3767C>G p.T1256S Missense 27/48 - 2
6-160484544-T-A c.3768T>A p.T1256= Synonymous 27/48 - 1
6-160484544-T-C c.3768T>C p.T1256= Synonymous 27/48 - 1
6-160484544-T-G c.3768T>G p.T1256= Synonymous 27/48 - 1
6-160484546-A-G c.3770A>G p.Y1257C Missense 27/48 - 1
6-160484546-A-T c.3770A>T p.Y1257F Missense 27/48 - 1
6-160484554-C-T c.3778C>T p.R1260W Missense 27/48 - 7
6-160484559-C-A c.3783C>A p.V1261= Synonymous 27/48 - 2
6-160484559-C-G c.3783C>G p.V1261= Synonymous 27/48 - 1
6-160484559-C-T c.3783C>T p.V1261= Synonymous 27/48 - 1
6-160484560-T-A c.3784T>A p.C1262S Missense 27/48 - 1
6-160484561-G-C c.3785G>C p.C1262S Missense 27/48 - 1
6-160484563-G-A c.3787G>A p.G1263R Missense 27/48 - 1
6-160484563-G-C c.3787G>C p.G1263R Missense 27/48 - 1
6-160484564-G-A c.3788G>A p.G1263E Missense 27/48 - 4
6-160484569-C-T c.3793C>T p.L1265F Missense 27/48 - 1
6-160484573-C-T c.3797C>T p.S1266F Missense 27/48 - 1
6-160484575-TC-GG c.3799_3800delinsGG p.S1267G Missense 27/48 - 1
6-160484576-C-A c.3800C>A p.S1267* Nonsense 27/48 - 1
6-160484576-CA-TT c.3800_3801delinsTT p.S1267F Missense 27/48 - 1
6-160484576-C-G c.3800C>G p.S1267* Nonsense 27/48 - 1
6-160484579-A-T c.3803A>T p.D1268V Missense 27/48 - 1
6-160484580-C-A c.3804C>A p.D1268E Missense 27/48 - 1
6-160484580-C-G c.3804C>G p.D1268E Missense 27/48 - 1
6-160484580-C-T c.3804C>T p.D1268= Synonymous 27/48 - 1
6-160484581-G-A c.3805G>A p.V1269I Missense 27/48 - 1
6-160484587-C-T c.3811C>T p.P1271S Missense 27/48 - 1
6-160484589-C-T c.3813C>T p.P1271= Synonymous 27/48 - 1
6-160484590-A-G c.3814A>G p.T1272A Missense 27/48 - 1
6-160484590-A-T c.3814A>T p.T1272S Missense 27/48 - 1
6-160484596-G-A c.3820G>A p.D1274N Missense 27/48 - 2
6-160484607-G-C c.3831G>C p.K1277N Missense 27/48 - 2
6-160484607-G-T c.3831G>T p.K1277N Missense 27/48 - 2
6-160484610-G-A c.3834G>A p.V1278= Synonymous 27/48 - 2
6-160484610-G-C c.3834G>C p.V1278= Synonymous 27/48 - 1
6-160484610-G-T c.3834G>T p.V1278= Synonymous 27/48 - 1
6-160484615-C-T c.3839C>T p.S1280F Missense 27/48 - 2
6-160484617-TC-AG c.3841_3842delinsAG p.S1281R Missense 27/48 - 1
6-160484618-C-G c.3842C>G p.S1281* Nonsense 27/48 - 1
6-160484618-C-T c.3842C>T p.S1281L Missense 27/48 - 1
6-160484629-A-G c.3853A>G p.K1285E Missense 27/48 - 2
6-160484632-C-G c.3856C>G p.R1286G Missense 27/48 - 1
6-160484632-C-T c.3856C>T p.R1286W Missense 27/48 - 1
6-160484633-G-A c.3857G>A p.R1286Q Missense 27/48 - 1
6-160484633-G-C c.3857G>C p.R1286P Missense 27/48 - 1
6-160484633-G-T c.3857G>T p.R1286L Missense 27/48 - 2
6-160484639-C-T c.3863C>T p.P1288L Missense 27/48 - 5
6-160484640-G-A c.3864G>A p.P1288= Synonymous 27/48 - 1
6-160484640-G-C c.3864G>C p.P1288= Synonymous 27/48 - 1
6-160484640-G-T c.3864G>T p.P1288= Synonymous 27/48 - 1
6-160484644-G-A c.3868G>A p.G1290R Missense 27/48 - 1
6-160484644-G-T c.3868G>T p.G1290* Nonsense 27/48 - 1
6-160484647-T-C c.3871T>C p.F1291L Missense 27/48 - 1
6-160484649-T-A c.3873T>A p.F1291L Missense 27/48 - 1
6-160484649-T-G c.3873T>G p.F1291L Missense 27/48 - 1
6-160484659-G-A c.3883G>A p.A1295T Missense 27/48 - 2
6-160484659-G-T c.3883G>T p.A1295S Missense 27/48 - 1
6-160484662-G-C c.3886G>C p.G1296R Missense 27/48 - 1
6-160484664-T-G c.3886+2T>G - IntronicSNV - 27/47 1
6-160484773-TA-T c.3886+125del - IntronicDeletion - 27/47 3
6-160485437-C-T c.3891C>T p.L1297= Synonymous 28/48 - 1
6-160485448-A-G c.3902A>G p.K1301R Missense 28/48 - 1
6-160485448-A-T c.3902A>T p.K1301M Missense 28/48 - 1
6-160485450-C-G c.3904C>G p.L1302V Missense 28/48 - 1
6-160485453-A-C c.3907A>C p.T1303P Missense 28/48 - 1
6-160485460-A-G c.3914A>G p.E1305G Missense 28/48 - 1
6-160485465-G-T c.3919G>T p.G1307C Missense 28/48 - 1
6-160485466-G-C c.3920G>C p.G1307A Missense 28/48 - 2
6-160485470-G-C c.3924G>C p.L1308F Missense 28/48 - 1
6-160485470-G-T c.3924G>T p.L1308F Missense 28/48 - 2
6-160485473-A-C c.3927A>C p.L1309F Missense 28/48 - 1
6-160485473-A-T c.3927A>T p.L1309F Missense 28/48 - 1
6-160485478-T-A c.3932T>A p.M1311K Missense 28/48 - 1
6-160485479-G-A c.3933G>A p.M1311I Missense 28/48 - 1
6-160485479-G-C c.3933G>C p.M1311I Missense 28/48 - 1
6-160485479-G-T c.3933G>T p.M1311I Missense 28/48 - 1
6-160485486-A-G c.3940A>G p.T1314A Missense 28/48 - 1
6-160485486-CA-C c.3940del p.T1314Rfs*30 Frameshift 28/48 - 1
6-160485487-C-A c.3941C>A p.T1314K Missense 28/48 - 1
6-160485487-C-G c.3941C>G p.T1314R Missense 28/48 - 2
6-160485487-C-T c.3941C>T p.T1314M Missense 28/48 - 1
6-160485488-G-A c.3942G>A p.T1314= Synonymous 28/48 - 3
6-160485488-G-C c.3942G>C p.T1314= Synonymous 28/48 - 3
6-160485488-G-T c.3942G>T p.T1314= Synonymous 28/48 - 3
6-160485489-GGG-TGT c.3943_3945delinsTGT p.G1315C Missense 28/48 - 1
6-160485490-G-A c.3944G>A p.G1315E Missense 28/48 - 5
6-160485490-G-C c.3944G>C p.G1315A Missense 28/48 - 6
6-160485490-G-T c.3944G>T p.G1315V Missense 28/48 - 2
6-160485491-G-A c.3945G>A p.G1315= Synonymous 28/48 - 1
6-160485491-G-C c.3945G>C p.G1315= Synonymous 28/48 - 1
6-160485491-G-T c.3945G>T p.G1315= Synonymous 28/48 - 1
6-160485493-G-C c.3947G>C p.G1316A Missense 28/48 - 2
6-160485494-G-GT c.3948_3949insT p.D1317* Nonsense 28/48 - 2
6-160485487-C-CG c.3949dup p.D1317Gfs*5 Frameshift 28/48 - 11
6-160485487-CG-C c.3949del p.D1317Tfs*27 Frameshift 28/48 - 10
6-160485496-A-C c.3950A>C p.D1317A Missense 28/48 - 1
6-160485496-A-T c.3950A>T p.D1317V Missense 28/48 - 1
6-160485499-C-T c.3953C>T p.T1318I Missense 28/48 - 2
6-160485503-C-T c.3957C>T p.C1319= Synonymous 28/48 - 3
6-160485504-C-T c.3958C>T p.H1320Y Missense 28/48 - 1
6-160485509-G-C c.3963G>C p.K1321N Missense 28/48 - 3
6-160485509-G-T c.3963G>T p.K1321N Missense 28/48 - 4
6-160485510-G-A c.3964G>A p.V1322I Missense 28/48 - 1
6-160485516-C-T c.3970C>T p.Q1324* Nonsense 28/48 - 2
6-160485518-G-C c.3972G>C p.Q1324H Missense 28/48 - 1
6-160485518-G-T c.3972G>T p.Q1324H Missense 28/48 - 1
6-160485519-C-T c.3973C>T p.R1325C Missense 28/48 - 4
6-160485517-AGC-A c.3974_3975del p.R1325Lfs*9 Frameshift 28/48 - 1
6-160485520-G-A c.3974G>A p.R1325H Missense 28/48 - 3
6-160485522-TC-AA c.3976_3977delinsAA p.S1326N Missense 28/48 - 1
6-160485523-C-T c.3977C>T p.S1326F Missense 28/48 - 1
6-160485529-C-G c.3983C>G p.A1328G Missense 28/48 - 1
6-160485529-C-T c.3983C>T p.A1328V Missense 28/48 - 2
6-160485528-GC-G c.3984del p.I1329Sfs*15 Frameshift 28/48 - 1
6-160485530-C-T c.3984C>T p.A1328= Synonymous 28/48 - 1
6-160485531-A-G c.3985A>G p.I1329V Missense 28/48 - 1
6-160485533-C-G c.3987C>G p.I1329M Missense 28/48 - 2
6-160485538-T-A c.3992T>A p.F1331Y Missense 28/48 - 1
6-160485539-C-T c.3993C>T p.F1331= Synonymous 28/48 - 2
6-160485548-C-A c.4002C>A p.D1334E Missense 28/48 - 2
6-160485548-C-G c.4002C>G p.D1334E Missense 28/48 - 1
6-160485548-C-CCAA c.4003_4004insAAC p.D1334_R1335insQ InFrameInsertion 28/48 - 1
6-160485549-C-A c.4003C>A p.R1335S Missense 28/48 - 1
6-160485549-C-G c.4003C>G p.R1335G Missense 28/48 - 3
6-160485549-CGC-TGA c.4003_4005delinsTGA p.R1335* Nonsense 28/48 - 1
6-160485549-C-T c.4003C>T p.R1335C Missense 28/48 - 5
6-160485550-G-A c.4004G>A p.R1335H Missense 28/48 - 2
6-160485553-G-A c.4007G>A p.G1336D Missense 28/48 - 2
6-160485555-A-G c.4009A>G p.T1337A Missense 28/48 - 1
6-160485556-C-T c.4010C>T p.T1337I Missense 28/48 - 1
6-160485559-AGCG-A c.4015_4017del p.R1339del InFrameDeletion 28/48 - 1
6-160485561-C-T c.4015C>T p.R1339W Missense 28/48 - 1
6-160485562-G-A c.4016G>A p.R1339Q Missense 28/48 - 1
6-160485564-G-T c.4017+1G>T - IntronicSNV - 28/47 1
6-160485565-T-A c.4017+2T>A - IntronicSNV - 28/47 1
6-160485837-C-T c.4019C>T p.P1340L Missense 29/48 - 2
6-160485839-G-A c.4021G>A p.V1341I Missense 29/48 - 3
6-160485839-G-C c.4021G>C p.V1341L Missense 29/48 - 1
6-160485839-G-T c.4021G>T p.V1341L Missense 29/48 - 1
6-160485844-T-A c.4026T>A p.F1342L Missense 29/48 - 1
6-160485851-G-C c.4033G>C p.E1345Q Missense 29/48 - 1
6-160485854-AC-TG c.4036_4037delinsTG p.T1346C Missense 29/48 - 1
6-160485858-C-T c.4040C>T p.S1347L Missense 29/48 - 1
6-160485860-G-C c.4042G>C p.D1348H Missense 29/48 - 1
6-160485866-T-G c.4048T>G p.S1350A Missense 29/48 - 1
6-160485869-T-C c.4051T>C p.Y1351H Missense 29/48 - 1
6-160485872-TT-CC c.4054_4055delinsCC p.L1352P Missense 29/48 - 1
6-160485874-G-C c.4056G>C p.L1352F Missense 29/48 - 2
6-160485874-G-T c.4056G>T p.L1352F Missense 29/48 - 2
6-160485884-CGA-TGG c.4066_4068delinsTGG p.R1356W Missense 29/48 - 1
6-160485884-C-T c.4066C>T p.R1356* Nonsense 29/48 - 3
6-160485885-G-A c.4067G>A p.R1356Q Missense 29/48 - 7
6-160485888-C-T c.4070C>T p.T1357M Missense 29/48 - 1
6-160485889-G-A c.4071G>A p.T1357= Synonymous 29/48 - 1
6-160485889-G-T c.4071G>T p.T1357= Synonymous 29/48 - 1
6-160485891-A-C c.4073A>C p.Q1358P Missense 29/48 - 1
6-160485893-T-C c.4075T>C p.Y1359H Missense 29/48 - 1
6-160485896-G-A c.4078G>A p.A1360T Missense 29/48 - 2
6-160485896-G-C c.4078G>C p.A1360P Missense 29/48 - 1
6-160485897-C-G c.4079C>G p.A1360G Missense 29/48 - 1
6-160485902-C-T c.4084C>T p.P1362S Missense 29/48 - 2
6-160485910-C-T c.4092C>T p.F1364= Synonymous 29/48 - 2
6-160485911-G-A c.4093G>A p.D1365N Missense 29/48 - 1
6-160485912-A-G c.4094A>G p.D1365G Missense 29/48 - 4
6-160485923-T-A c.4105T>A p.C1369S Missense 29/48 - 1
6-160485924-G-C c.4106G>C p.C1369S Missense 29/48 - 1
6-160485925-T-C c.4107T>C p.C1369= Synonymous 29/48 - 1
6-160485927-C-A c.4109C>A p.S1370* Nonsense 29/48 - 1
6-160486083-A-G c.4115+150A>G - IntronicSNV - 29/47 1
6-160487196-G-A c.4115+1263G>A - IntronicSNV - 29/47 3
6-160489055-A-G c.4116-226A>G - IntronicSNV - 29/47 2
6-160489243-G-A c.4116-38G>A - IntronicSNV - 29/47 1
6-160489286-G-T c.4121G>T p.G1374V Missense 30/48 - 1
6-160489288-G-A c.4123G>A p.A1375T Missense 30/48 - 1
6-160489289-C-T c.4124C>T p.A1375V Missense 30/48 - 1
6-160489290-T-A c.4125T>A p.A1375= Synonymous 30/48 - 4
6-160489290-T-C c.4125T>C p.A1375= Synonymous 30/48 - 4
6-160489290-T-G c.4125T>G p.A1375= Synonymous 30/48 - 4
6-160489291-G-T c.4126G>T p.G1376C Missense 30/48 - 1
6-160489292-G-A c.4127G>A p.G1376D Missense 30/48 - 1
6-160489302-C-T c.4137C>T p.F1379= Synonymous 30/48 - 1
6-160489304-A-G c.4139A>G p.D1380G Missense 30/48 - 2
6-160489304-A-T c.4139A>T p.D1380V Missense 30/48 - 1
6-160489310-C-T c.4145C>T p.S1382L Missense 30/48 - 4
6-160489311-G-A c.4146G>A p.S1382= Synonymous 30/48 - 2
6-160489311-G-C c.4146G>C p.S1382= Synonymous 30/48 - 2
6-160489311-G-T c.4146G>T p.S1382= Synonymous 30/48 - 1
6-160489313-C-A c.4148C>A p.S1383Y Missense 30/48 - 1
6-160489314-C-A c.4149C>A p.S1383= Synonymous 30/48 - 1
6-160489314-C-T c.4149C>T p.S1383= Synonymous 30/48 - 2
6-160489315-C-A c.4150C>A p.L1384M Missense 30/48 - 1
6-160489319-CA-GT c.4154_4155delinsGT p.S1385C Missense 30/48 - 1
6-160489319-C-T c.4154C>T p.S1385L Missense 30/48 - 1
6-160489321-AG-CA c.4156_4157delinsCA p.R1386Q Missense 30/48 - 4
6-160489326-C-A c.4161C>A p.Y1387* Nonsense 30/48 - 1
6-160489327-A-G c.4162A>G p.S1388G Missense 30/48 - 2
6-160489331-A-C c.4166A>C p.D1389A Missense 30/48 - 1
6-160489348-A-T c.4183A>T p.T1395S Missense 30/48 - 10
6-160489349-C-G c.4184C>G p.T1395S Missense 30/48 - 2
6-160489349-C-T c.4184C>T p.T1395I Missense 30/48 - 1
6-160489350-T-C c.4185T>C p.T1395= Synonymous 30/48 - 1
6-160489351-G-T c.4186G>T p.G1396W Missense 30/48 - 2
6-160489352-G-T c.4187G>T p.G1396V Missense 30/48 - 1
6-160489353-G-A c.4188G>A p.G1396= Synonymous 30/48 - 1
6-160489354-A-C c.4189A>C p.T1397P Missense 30/48 - 1
6-160489354-A-T c.4189A>T p.T1397S Missense 30/48 - 2
6-160489355-C-T c.4190C>T p.T1397M Missense 30/48 - 2
6-160489360-G-A c.4195G>A p.D1399N Missense 30/48 - 2
6-160489364-C-T c.4199C>T p.P1400L Missense 30/48 - 2
6-160489365-G-A c.4200G>A p.P1400= Synonymous 30/48 - 1
6-160489385-T-A c.4220T>A p.V1407D Missense 30/48 - 1
6-160489387-T-A c.4222T>A p.C1408S Missense 30/48 - 1
6-160489388-G-C c.4223G>C p.C1408S Missense 30/48 - 1
6-160489400-C-G c.4235C>G p.A1412G Missense 30/48 - 1
6-160489403-C-A c.4238C>A p.P1413Q Missense 30/48 - 2
6-160489403-C-T c.4238C>T p.P1413L Missense 30/48 - 2
6-160489404-G-A c.4239G>A p.P1413= Synonymous 30/48 - 2
6-160489404-G-C c.4239G>C p.P1413= Synonymous 30/48 - 2
6-160489404-G-T c.4239G>T p.P1413= Synonymous 30/48 - 2
6-160489407-G-T c.4242G>T p.Q1414H Missense 30/48 - 2
6-160489413-C-A c.4248C>A p.G1416= Synonymous 30/48 - 1
6-160489733-CCTCGTGGGATGGTGTTTGCAGTGAGTGTATTGAAGGCTGGCACTGGTGAGAGAGGGCCT-C c.4252+318_4252+376del - IntronicDeletion - 30/47 1
6-160490902-C-A c.4255C>A p.P1419T Missense 31/48 - 1
6-160490902-C-T c.4255C>T p.P1419S Missense 31/48 - 1
6-160490903-C-T c.4256C>T p.P1419L Missense 31/48 - 1
6-160490905-T-G c.4258T>G p.C1420G Missense 31/48 - 1
6-160490907-C-T c.4260C>T p.C1420= Synonymous 31/48 - 1
6-160490915-A-G c.4268A>G p.E1423G Missense 31/48 - 1
6-160490918-C-T c.4271C>T p.A1424V Missense 31/48 - 1
6-160490920-G-A c.4273G>A p.A1425T Missense 31/48 - 1
6-160490921-C-G c.4274C>G p.A1425G Missense 31/48 - 1
6-160490922-C-A c.4275C>A p.A1425= Synonymous 31/48 - 1
6-160490922-C-G c.4275C>G p.A1425= Synonymous 31/48 - 1
6-160490922-C-T c.4275C>T p.A1425= Synonymous 31/48 - 3
6-160490923-G-A c.4276G>A p.A1426T Missense 31/48 - 1
6-160490924-C-T c.4277C>T p.A1426V Missense 31/48 - 1
6-160490925-G-A c.4278G>A p.A1426= Synonymous 31/48 - 1
6-160490926-T-C c.4279T>C p.C1427R Missense 31/48 - 1
6-160490935-G-C c.4288G>C p.G1430R Missense 31/48 - 1
6-160490935-G-T c.4288G>T p.G1430C Missense 31/48 - 1
6-160490939-G-A c.4292G>A p.G1431D Missense 31/48 - 1
6-160490950-G-A c.4303G>A p.V1435M Missense 31/48 - 5
6-160490954-A-G c.4307A>G p.N1436S Missense 31/48 - 1
6-160490956-C-T c.4309C>T p.L1437F Missense 31/48 - 1
6-160490958-C-T c.4311C>T p.L1437= Synonymous 31/48 - 2
6-160490959-G-T c.4312G>T p.G1438C Missense 31/48 - 1
6-160490960-G-C c.4313G>C p.G1438A Missense 31/48 - 1
6-160490962-AGG-CAT c.4315_4317delinsCAT p.R1439H Missense 31/48 - 1
6-160490963-G-T c.4316G>T p.R1439M Missense 31/48 - 2
6-160490974-G-A c.4327G>A p.G1443R Missense 31/48 - 3
6-160490974-G-C c.4327G>C p.G1443R Missense 31/48 - 2
6-160490974-GGA-AGC c.4327_4329delinsAGC p.G1443S Missense 31/48 - 1
6-160490978-C-T c.4331C>T p.P1444L Missense 31/48 - 1
6-160490980-C-T c.4333C>T p.Q1445* Nonsense 31/48 - 2
6-160490982-G-C c.4335G>C p.Q1445H Missense 31/48 - 1
6-160490982-G-T c.4335G>T p.Q1445H Missense 31/48 - 1
6-160490985-G-C c.4338G>C p.W1446C Missense 31/48 - 2
6-160490985-G-T c.4338G>T p.W1446C Missense 31/48 - 2
6-160490993-G-A c.4346G>A p.G1449D Missense 31/48 - 1
6-160490993-G-C c.4346G>C p.G1449A Missense 31/48 - 1
6-160490993-G-T c.4346G>T p.G1449V Missense 31/48 - 3
6-160490994-C-A c.4347C>A p.G1449= Synonymous 31/48 - 1
6-160490994-C-G c.4347C>G p.G1449= Synonymous 31/48 - 1
6-160490994-C-T c.4347C>T p.G1449= Synonymous 31/48 - 2
6-160490998-A-G c.4351A>G p.I1451V Missense 31/48 - 1
6-160491005-T-A c.4358T>A p.L1453Q Missense 31/48 - 4
6-160491011-A-T c.4364A>T p.Y1455F Missense 31/48 - 1
6-160491013-G-A c.4366G>A p.V1456I Missense 31/48 - 1
6-160491014-T-C c.4367T>C p.V1456A Missense 31/48 - 2
6-160491016-G-A c.4369G>A p.D1457N Missense 31/48 - 1
6-160491021-C-A c.4374C>A p.G1458= Synonymous 31/48 - 1
6-160491021-C-G c.4374C>G p.G1458= Synonymous 31/48 - 1
6-160491021-C-T c.4374C>T p.G1458= Synonymous 31/48 - 2
6-160491025-T-A c.4378T>A p.L1460I Missense 31/48 - 1
6-160491029-G-A c.4382G>A p.C1461Y Missense 31/48 - 2
6-160491030-T-A c.4383T>A p.C1461* Nonsense 31/48 - 1
6-160491031-C-A c.4384C>A p.P1462T Missense 31/48 - 1
6-160491031-C-G c.4384C>G p.P1462A Missense 31/48 - 1
6-160491032-C-T c.4385C>T p.P1462L Missense 31/48 - 1
6-160491035-A-G c.4388A>G p.D1463G Missense 31/48 - 1
6-160491037-GGG-AGC c.4390_4392delinsAGC p.G1464S Missense 31/48 - 1
6-160491038-G-A c.4391G>A p.G1464E Missense 31/48 - 2
6-160491043-CGG-TGT c.4396_4398delinsTGT p.R1466C Missense 31/48 - 1
6-160491043-C-T c.4396C>T p.R1466W Missense 31/48 - 3
6-160491044-G-A c.4397G>A p.R1466Q Missense 31/48 - 1
6-160491052-T-C c.4405T>C p.S1469P Missense 31/48 - 1
6-160491055-A-G c.4408A>G p.T1470A Missense 31/48 - 1
6-160491061-A-G c.4414A>G p.I1472V Missense 31/48 - 1
6-160491063-C-G c.4416C>G p.I1472M Missense 31/48 - 2
6-160491064-C-T c.4417C>T p.R1473* Nonsense 31/48 - 5
6-160491065-G-A c.4418G>A p.R1473Q Missense 31/48 - 2
6-160491065-G-T c.4418G>T p.R1473L Missense 31/48 - 1
6-160491067-T-C c.4420T>C p.F1474L Missense 31/48 - 4
6-160491069-C-G c.4422C>G p.F1474L Missense 31/48 - 1
6-160491069-C-A c.4422C>A p.F1474L Missense 31/48 - 2
6-160491069-C-T c.4422C>T p.F1474= Synonymous 31/48 - 2
6-160491075-C-T c.4428C>T p.C1476= Synonymous 31/48 - 1
6-160491078-C-T c.4431C>T p.S1477= Synonymous 31/48 - 2
6-160491079-G-A c.4432G>A p.E1478K Missense 31/48 - 5
6-160491648-T-A c.4443+558T>A - IntronicSNV - 31/47 1
6-160491741-A-G c.4443+651A>G - IntronicSNV - 31/47 2
6-160492349-T-C c.4444-593T>C - IntronicSNV - 31/47 1
6-160492613-T-C c.4444-329T>C - IntronicSNV - 31/47 2
6-160492942-A-G c.4444A>G p.N1482D Missense 32/48 - 2
6-160492944-C-A c.4446C>A p.N1482K Missense 32/48 - 1
6-160492944-C-G c.4446C>G p.N1482K Missense 32/48 - 2
6-160492949-G-T c.4451G>T p.R1484M Missense 32/48 - 1
6-160492950-G-C c.4452G>C p.R1484S Missense 32/48 - 1
6-160492950-G-T c.4452G>T p.R1484S Missense 32/48 - 1
6-160492953-C-T c.4455C>T p.P1485= Synonymous 32/48 - 2
6-160492954-A-G c.4456A>G p.M1486V Missense 32/48 - 1
6-160492956-G-T c.4458G>T p.M1486I Missense 32/48 - 1
6-160492966-G-A c.4468G>A p.A1490T Missense 32/48 - 6
6-160492966-G-T c.4468G>T p.A1490S Missense 32/48 - 1
6-160492967-C-T c.4469C>T p.A1490V Missense 32/48 - 2
6-160492968-C-A c.4470C>A p.A1490= Synonymous 32/48 - 1
6-160492968-C-G c.4470C>G p.A1490= Synonymous 32/48 - 1
6-160492968-C-T c.4470C>T p.A1490= Synonymous 32/48 - 1
6-160492969-G-A c.4471G>A p.V1491M Missense 32/48 - 9
6-160492972-G-A c.4474G>A p.E1492K Missense 32/48 - 1
6-160492981-G-A c.4483G>A p.E1495K Missense 32/48 - 1
6-160492983-G-C c.4485G>C p.E1495D Missense 32/48 - 2
6-160492983-G-T c.4485G>T p.E1495D Missense 32/48 - 3
6-160492984-T-C c.4486T>C p.Y1496H Missense 32/48 - 1
6-160492989-C-A c.4491C>A p.T1497= Synonymous 32/48 - 1
6-160492989-C-G c.4491C>G p.T1497= Synonymous 32/48 - 1
6-160492989-C-T c.4491C>T p.T1497= Synonymous 32/48 - 1
6-160492997-G-A c.4499G>A p.W1500* Nonsense 32/48 - 1
6-160492998-G-A c.4500G>A p.W1500* Nonsense 32/48 - 2
6-160493000-C-T c.4502C>T p.P1501L Missense 32/48 - 1
6-160493002-A-G c.4504A>G p.T1502A Missense 32/48 - 1
6-160493006-C-T c.4508C>T p.A1503V Missense 32/48 - 1
6-160493008-A-C c.4510A>C p.T1504P Missense 32/48 - 1
6-160493009-C-G c.4511C>G p.T1504R Missense 32/48 - 1
6-160493009-C-T c.4511C>T p.T1504I Missense 32/48 - 3
6-160493012-C-T c.4514C>T p.A1505V Missense 32/48 - 1
6-160493014-T-A c.4516T>A p.C1506S Missense 32/48 - 1
6-160493014-T-C c.4516T>C p.C1506R Missense 32/48 - 1
6-160493014-TG-AC c.4516_4517delinsAC p.C1506T Missense 32/48 - 1
6-160493015-G-C c.4517G>C p.C1506S Missense 32/48 - 1
6-160493019-C-T c.4521C>T p.P1507= Synonymous 32/48 - 2
6-160493026-A-C c.4528A>C p.S1510R Missense 32/48 - 1
6-160493028-C-A c.4530C>A p.S1510R Missense 32/48 - 1
6-160493028-C-G c.4530C>G p.S1510R Missense 32/48 - 1
6-160493030-A-G c.4532A>G p.N1511S Missense 32/48 - 1
6-160493031-C-T c.4533C>T p.N1511= Synonymous 32/48 - 1
6-160493032-G-A c.4534G>A p.E1512K Missense 32/48 - 1
6-160493034-G-T c.4536G>T p.E1512D Missense 32/48 - 1
6-160493036-A-G c.4538A>G p.H1513R Missense 32/48 - 1
6-160493039-A-G c.4541A>G p.D1514G Missense 32/48 - 2
6-160493041-G-A c.4543G>A p.D1515N Missense 32/48 - 1
6-160493045-G-T c.4547G>T p.C1516F Missense 32/48 - 1
6-160493047-C-G c.4549C>G p.Q1517E Missense 32/48 - 1
6-160493048-A-G c.4550A>G p.Q1517R Missense 32/48 - 1
6-160493059-C-A c.4561C>A p.P1521T Missense 32/48 - 1
6-160493063-G-T c.4565G>T p.S1522I Missense 32/48 - 1
6-160493062-A-C c.4564A>C p.S1522R Missense 32/48 - 1
6-160493064-C-A c.4566C>A p.S1522R Missense 32/48 - 1
6-160493064-C-G c.4566C>G p.S1522R Missense 32/48 - 1
6-160493099-C-G c.4570+31C>G - IntronicSNV - 32/47 1
6-160493099-C-T c.4570+31C>T - IntronicSNV - 32/47 1
6-160493117-C-T c.4570+49C>T - IntronicSNV - 32/47 3
6-160493176-G-A c.4570+108G>A - IntronicSNV - 32/47 1
6-160493794-C-T c.4571-3C>T - IntronicSNV - 32/47 1
6-160493797-G-A c.4571G>A p.G1524E Missense 33/48 - 1
6-160493808-G-C c.4582G>C p.D1528H Missense 33/48 - 1
6-160493818-C-T c.4592C>T p.S1531F Missense 33/48 - 2
6-160493824-G-T c.4598G>T p.S1533I Missense 33/48 - 1
6-160493826-G-A c.4600G>A p.G1534S Missense 33/48 - 1
6-160493826-G-C c.4600G>C p.G1534R Missense 33/48 - 1
6-160493826-G-T c.4600G>T p.G1534C Missense 33/48 - 2
6-160493833-C-G c.4607C>G p.A1536G Missense 33/48 - 1
6-160493833-C-T c.4607C>T p.A1536V Missense 33/48 - 1
6-160493834-G-A c.4608G>A p.A1536= Synonymous 33/48 - 8
6-160493834-G-C c.4608G>C p.A1536= Synonymous 33/48 - 3
6-160493834-G-T c.4608G>T p.A1536= Synonymous 33/48 - 3
6-160493838-T-C c.4612T>C p.F1538L Missense 33/48 - 1
6-160493840-C-A c.4614C>A p.F1538L Missense 33/48 - 1
6-160493840-C-G c.4614C>G p.F1538L Missense 33/48 - 1
6-160493844-G-T c.4618G>T p.A1540S Missense 33/48 - 1
6-160493850-TA-CT c.4624_4625delinsCT p.Y1542L Missense 33/48 - 1
6-160493851-A-T c.4625A>T p.Y1542F Missense 33/48 - 1
6-160493852-C-T c.4626C>T p.Y1542= Synonymous 33/48 - 1
6-160493856-G-A c.4630G>A p.E1544K Missense 33/48 - 4
6-160493857-A-G c.4631A>G p.E1544G Missense 33/48 - 1
6-160493860-A-G c.4634A>G p.K1545R Missense 33/48 - 2
6-160493860-AG-GC c.4634_4635delinsGC p.K1545S Missense 33/48 - 1
6-160493863-G-C c.4637G>C p.G1546A Missense 33/48 - 1
6-160493865-T-G c.4639T>G p.L1547V Missense 33/48 - 1
6-160493868-G-C c.4642G>C p.V1548L Missense 33/48 - 1
6-160493881-T-C c.4655T>C p.I1552T Missense 33/48 - 2
6-160493883-TG-AC c.4657_4658delinsAC p.C1553T Missense 33/48 - 1
6-160493885-T-G c.4659T>G p.C1553W Missense 33/48 - 1
6-160493887-G-A c.4661G>A p.G1554E Missense 33/48 - 2
6-160493888-G-A c.4662G>A p.G1554= Synonymous 33/48 - 1
6-160493888-G-C c.4662G>C p.G1554= Synonymous 33/48 - 1
6-160493888-G-T c.4662G>T p.G1554= Synonymous 33/48 - 1
6-160493903-C-T c.4677C>T p.C1559= Synonymous 33/48 - 1
6-160493904-C-T c.4678C>T p.P1560S Missense 33/48 - 1
6-160493907-C-A c.4681C>A p.P1561T Missense 33/48 - 1
6-160493907-C-T c.4681C>T p.P1561S Missense 33/48 - 1
6-160493908-C-T c.4682C>T p.P1561L Missense 33/48 - 1
6-160493910-G-T c.4684G>T p.G1562C Missense 33/48 - 1
6-160493911-G-C c.4685G>C p.G1562A Missense 33/48 - 1
6-160493913-G-A c.4687G>A p.V1563M Missense 33/48 - 1
6-160493914-T-C c.4688T>C p.V1563A Missense 33/48 - 1
6-160493916-G-A c.4690G>A p.G1564R Missense 33/48 - 1
6-160493916-G-C c.4690G>C p.G1564R Missense 33/48 - 1
6-160494068-C-T c.4690+152C>T - IntronicSNV - 33/47 1
6-160494245-G-T c.4691G>T p.G1564V Missense 34/48 - 1
6-160494246-G-A c.4692G>A p.G1564= Synonymous 34/48 - 1
6-160494247-G-T c.4693G>T p.A1565S Missense 34/48 - 1
6-160494250-T-C c.4696T>C p.C1566R Missense 34/48 - 1
6-160494260-A-T c.4706A>T p.Q1569L Missense 34/48 - 1
6-160494261-G-A c.4707G>A p.Q1569= Synonymous 34/48 - 1
6-160494262-A-C c.4708A>C p.T1570P Missense 34/48 - 1
6-160494265-A-G c.4711A>G p.R1571G Missense 34/48 - 1
6-160494267-G-C c.4713G>C p.R1571S Missense 34/48 - 3
6-160494267-G-T c.4713G>T p.R1571S Missense 34/48 - 2
6-160494268-A-C c.4714A>C p.I1572L Missense 34/48 - 1
6-160494268-AT-GC c.4714_4715delinsGC p.I1572A Missense 34/48 - 1
6-160494269-T-C c.4715T>C p.I1572T Missense 34/48 - 3
6-160494272-AG-A c.4718del p.S1573Tfs*9 Frameshift 34/48 - 1
6-160494272-G-A c.4718G>A p.S1573N Missense 34/48 - 1
6-160494274-G-A c.4720G>A p.V1574M Missense 34/48 - 3
6-160494276-G-A c.4722G>A p.V1574= Synonymous 34/48 - 1
6-160494278-G-C c.4724G>C p.G1575A Missense 34/48 - 1
6-160494283-G-A c.4729G>A p.A1577T Missense 34/48 - 2
6-160494286-A-C c.4732A>C p.N1578H Missense 34/48 - 1
6-160494291-G-C c.4737G>C p.K1579N Missense 34/48 - 1
6-160494299-G-A c.4745G>A p.R1582K Missense 34/48 - 5
6-160494304-G-A c.4750G>A p.V1584M Missense 34/48 - 3
6-160494305-T-C c.4751T>C p.V1584A Missense 34/48 - 1
6-160494306-G-A c.4752G>A p.V1584= Synonymous 34/48 - 1
6-160494306-G-C c.4752G>C p.V1584= Synonymous 34/48 - 1
6-160494306-G-T c.4752G>T p.V1584= Synonymous 34/48 - 1
6-160494307-G-A c.4753G>A p.D1585N Missense 34/48 - 6
6-160494315-C-A c.4761C>A p.V1587= Synonymous 34/48 - 1
6-160494315-C-G c.4761C>G p.V1587= Synonymous 34/48 - 1
6-160494315-C-T c.4761C>T p.V1587= Synonymous 34/48 - 1
6-160494316-C-T c.4762C>T p.L1588= Synonymous 34/48 - 1
6-160494318-G-A c.4764G>A p.L1588= Synonymous 34/48 - 1
6-160494318-G-C c.4764G>C p.L1588= Synonymous 34/48 - 1
6-160494318-G-T c.4764G>T p.L1588= Synonymous 34/48 - 1
6-160494321-G-C c.4767G>C p.Q1589H Missense 34/48 - 1
6-160494321-G-T c.4767G>T p.Q1589H Missense 34/48 - 1
6-160494322-C-G c.4768C>G p.L1590V Missense 34/48 - 1
6-160494322-C-T c.4768C>T p.L1590= Synonymous 34/48 - 1
6-160494324-G-A c.4770G>A p.L1590= Synonymous 34/48 - 2
6-160494324-G-C c.4770G>C p.L1590= Synonymous 34/48 - 1
6-160494324-G-T c.4770G>T p.L1590= Synonymous 34/48 - 1
6-160494326-T-C c.4772T>C p.V1591A Missense 34/48 - 1
6-160494333-G-T c.4779G>T p.K1593N Missense 34/48 - 1
6-160494336-T-C c.4782T>C p.D1594= Synonymous 34/48 - 2
6-160494338-G-C c.4784G>C p.G1595A Missense 34/48 - 1
6-160494339-G-A c.4785G>A p.G1595= Synonymous 34/48 - 1
6-160494339-G-C c.4785G>C p.G1595= Synonymous 34/48 - 1
6-160494339-G-T c.4785G>T p.G1595= Synonymous 34/48 - 1
6-160494340-TC-GG c.4786_4787delinsGG p.S1596G Missense 34/48 - 1
6-160494345-T-A c.4791T>A p.P1597= Synonymous 34/48 - 1
6-160494345-T-C c.4791T>C p.P1597= Synonymous 34/48 - 2
6-160494345-T-G c.4791T>G p.P1597= Synonymous 34/48 - 1
6-160494348-T-C c.4794T>C p.C1598= Synonymous 34/48 - 1
6-160494349-C-A c.4795C>A p.P1599T Missense 34/48 - 1
6-160494350-C-T c.4796C>T p.P1599L Missense 34/48 - 1
6-160494352-T-A c.4798T>A p.S1600T Missense 34/48 - 1
6-160494353-C-T c.4799C>T p.S1600F Missense 34/48 - 12
6-160494354-C-T c.4800C>T p.S1600= Synonymous 34/48 - 2
6-160494360-C-T c.4806C>T p.S1602= Synonymous 34/48 - 4
6-160494362-G-T c.4808G>T p.G1603V Missense 34/48 - 1
6-160494365-T-G c.4811T>G p.L1604R Missense 34/48 - 3
6-160494375-G-A c.4821G>A p.K1607= Synonymous 34/48 - 1
6-160494375-G-C c.4821G>C p.K1607N Missense 34/48 - 1
6-160494382-A-G c.4828A>G p.I1610V Missense 34/48 - 1
6-160494385-A-G c.4831A>G p.S1611G Missense 34/48 - 1
6-160494390-C-T c.4836C>T p.F1612= Synonymous 34/48 - 1
6-160494391-G-A c.4837G>A p.V1613M Missense 34/48 - 1
6-160494392-T-A c.4838T>A p.V1613E Missense 34/48 - 2
6-160494395-G-A c.4841G>A p.C1614Y Missense 34/48 - 2
6-160494403-G-T c.4849G>T p.E1617* Nonsense 34/48 - 2
6-160494406-G-A c.4852G>A p.A1618T Missense 34/48 - 1
6-160494409-A-C c.4855A>C p.R1619= Synonymous 34/48 - 44
6-160494409-A-G c.4855A>G p.R1619G Missense 34/48 - 44
6-160494409-A-T c.4855A>T p.R1619W Missense 34/48 - 44
6-160494418-A-G c.4864A>G p.N1622D Missense 34/48 - 2
6-160494421-A-G c.4867A>G p.R1623G Missense 34/48 - 1
6-160494421-AGG-TGT c.4867_4869delinsTGT p.R1623C Missense 34/48 - 1
6-160494421-A-T c.4867A>T p.R1623W Missense 34/48 - 1
6-160494422-G-A c.4868G>A p.R1623K Missense 34/48 - 5
6-160494424-C-T c.4870C>T p.P1624S Missense 34/48 - 1
6-160494432-C-T c.4878C>T p.L1626= Synonymous 34/48 - 1
6-160494436-T-G c.4882T>G p.S1628A Missense 34/48 - 1
6-160494437-C-T c.4883C>T p.S1628F Missense 34/48 - 1
6-160494439-C-T c.4885C>T p.L1629= Synonymous 34/48 - 1
6-160494441-G-A c.4887G>A p.L1629= Synonymous 34/48 - 1
6-160494441-G-C c.4887G>C p.L1629= Synonymous 34/48 - 1
6-160494441-G-T c.4887G>T p.L1629= Synonymous 34/48 - 1
6-160494443-A-G c.4889A>G p.D1630G Missense 34/48 - 1
6-160494446-A-G c.4892A>G p.K1631R Missense 34/48 - 2
6-160494446-A-T c.4892A>T p.K1631M Missense 34/48 - 1
6-160494454-TG-AC c.4900_4901delinsAC p.C1634T Missense 34/48 - 1
6-160494456-C-T c.4902C>T p.C1634= Synonymous 34/48 - 1
6-160494457-A-T c.4903A>T p.T1635S Missense 34/48 - 1
6-160494458-C-G c.4904C>G p.T1635S Missense 34/48 - 1
6-160494459-T-A c.4905T>A p.T1635= Synonymous 34/48 - 1
6-160494459-T-C c.4905T>C p.T1635= Synonymous 34/48 - 1
6-160494459-T-G c.4905T>G p.T1635= Synonymous 34/48 - 1
6-160494460-C-G c.4906C>G p.L1636V Missense 34/48 - 1
6-160494466-T-A c.4912T>A p.F1638I Missense 34/48 - 1
6-160494467-TCTC-T c.4916_4918del p.S1639del InFrameDeletion 34/48 - 4
6-160494473-G-A c.4919G>A p.W1640* Nonsense 34/48 - 1
6-160494474-G-A c.4920G>A p.W1640* Nonsense 34/48 - 1
6-160494479-C-T c.4925C>T p.T1642M Missense 34/48 - 1
6-160494482-C-T c.4928C>T p.P1643L Missense 34/48 - 1
6-160494487-G-T c.4933G>T p.A1645S Missense 34/48 - 1
6-160494493-G-A c.4939G>A p.E1647K Missense 34/48 - 1
6-160494495-G-C c.4941G>C p.E1647D Missense 34/48 - 1
6-160494495-G-T c.4941G>T p.E1647D Missense 34/48 - 1
6-160494500-C-G c.4946C>G p.A1649G Missense 34/48 - 1
6-160494500-C-T c.4946C>T p.A1649V Missense 34/48 - 3
6-160494501-G-A c.4947G>A p.A1649= Synonymous 34/48 - 1
6-160494503-T-C c.4947+2T>C - IntronicSNV - 34/47 1
6-160494521-C-T c.4947+20C>T - IntronicSNV - 34/47 7
6-160494790-CC-AG c.4949_4950delinsAG p.T1650K Missense 35/48 - 1
6-160494792-G-A c.4951G>A p.E1651K Missense 35/48 - 2
6-160494792-G-T c.4951G>T p.E1651* Nonsense 35/48 - 2
6-160494795-T-G c.4954T>G p.C1652G Missense 35/48 - 4
6-160494795-TG-AC c.4954_4955delinsAC p.C1652T Missense 35/48 - 1
6-160494796-G-A c.4955G>A p.C1652Y Missense 35/48 - 2
6-160494800-C-T c.4959C>T p.S1653= Synonymous 35/48 - 1
6-160494801-G-A c.4960G>A p.V1654M Missense 35/48 - 5
6-160494805-G-A c.4964G>A p.R1655K Missense 35/48 - 2
6-160494811-G-A c.4970G>A p.G1657E Missense 35/48 - 2
6-160494817-C-T c.4976C>T p.S1659F Missense 35/48 - 1
6-160494822-G-T c.4981G>T p.V1661F Missense 35/48 - 4
6-160494825-G-A c.4984G>A p.D1662N Missense 35/48 - 2
6-160494832-C-T c.4991C>T p.S1664F Missense 35/48 - 1
6-160494834-C-T c.4993C>T p.P1665S Missense 35/48 - 2
6-160494835-C-A c.4994C>A p.P1665H Missense 35/48 - 1
6-160494835-C-T c.4994C>T p.P1665L Missense 35/48 - 3
6-160494846-C-T c.5005C>T p.R1669C Missense 35/48 - 5
6-160494847-G-A c.5006G>A p.R1669H Missense 35/48 - 2
6-160494849-A-T c.5008A>T p.T1670S Missense 35/48 - 1
6-160494850-C-T c.5009C>T p.T1670I Missense 35/48 - 1
6-160494852-GG-TT c.5011_5012delinsTT p.G1671F Missense 35/48 - 1
6-160494855-G-A c.5014G>A p.G1672S Missense 35/48 - 1
6-160494862-A-G c.5021A>G p.E1674G Missense 35/48 - 1
6-160494864-G-T c.5023G>T p.A1675S Missense 35/48 - 1
6-160494865-CT-AG c.5024_5025inv p.A1675E Missense 35/48 - 1
6-160494868-A-G c.5027A>G p.Y1676C Missense 35/48 - 1
6-160494870-G-A c.5029G>A p.D1677N Missense 35/48 - 1
6-160494870-G-T c.5029G>T p.D1677Y Missense 35/48 - 1
6-160494871-A-G c.5030A>G p.D1677G Missense 35/48 - 2
6-160494875-G-A c.5034G>A p.E1678= Synonymous 35/48 - 1
6-160494877-G-A c.5036G>A p.S1679N Missense 35/48 - 1
6-160494882-G-A c.5041G>A p.D1681N Missense 35/48 - 1
6-160494882-G-T c.5041G>T p.D1681Y Missense 35/48 - 3
6-160494883-A-G c.5042A>G p.D1681G Missense 35/48 - 1
6-160494889-C-A c.5048C>A p.A1683D Missense 35/48 - 1
6-160494892-C-T c.5051C>T p.S1684F Missense 35/48 - 2
6-160494893-C-A c.5052C>A p.S1684= Synonymous 35/48 - 1
6-160494893-C-G c.5052C>G p.S1684= Synonymous 35/48 - 1
6-160494893-C-T c.5052C>T p.S1684= Synonymous 35/48 - 1
6-160494894-G-A c.5053G>A p.D1685N Missense 35/48 - 3
6-160494895-A-T c.5054A>T p.D1685V Missense 35/48 - 1
6-160494906-G-C c.5065G>C p.D1689H Missense 35/48 - 1
6-160494909-T-C c.5068T>C p.F1690L Missense 35/48 - 2
6-160494911-C-A c.5070C>A p.F1690L Missense 35/48 - 2
6-160494911-C-G c.5070C>G p.F1690L Missense 35/48 - 3
6-160494915-CA-C c.5074del p.I1692Sfs*7 Frameshift 35/48 - 1
6-160494916-T-C c.5075T>C p.I1692T Missense 35/48 - 1
6-160494917-C-G c.5076C>G p.I1692M Missense 35/48 - 1
6-160494928-A-G c.5087A>G p.Q1696R Missense 35/48 - 8
6-160494930-C-T c.5089C>T p.P1697S Missense 35/48 - 1
6-160494934-T-C c.5093T>C p.L1698P Missense 35/48 - 1
6-160494936-A-C c.5095A>C p.N1699H Missense 35/48 - 1
6-160494936-A-G c.5095A>G p.N1699D Missense 35/48 - 1
6-160494939-C-T c.5098C>T p.P1700S Missense 35/48 - 2
6-160494940-C-A c.5099C>A p.P1700H Missense 35/48 - 1
6-160494940-C-T c.5099C>T p.P1700L Missense 35/48 - 1
6-160494941-C-A c.5100C>A p.P1700= Synonymous 35/48 - 1
6-160494941-C-G c.5100C>G p.P1700= Synonymous 35/48 - 1
6-160494941-C-T c.5100C>T p.P1700= Synonymous 35/48 - 1
6-160494942-A-G c.5101A>G p.M1701V Missense 35/48 - 1
6-160494947-C-T c.5106C>T p.H1702= Synonymous 35/48 - 1
6-160494948-G-A c.5107G>A p.G1703R Missense 35/48 - 5
6-160494948-G-C c.5107G>C p.G1703R Missense 35/48 - 3
6-160494948-G-T c.5107G>T p.G1703* Nonsense 35/48 - 1
6-160494954-C-T c.5113C>T p.P1705S Missense 35/48 - 1
6-160494962-T-A c.5121T>A p.P1707= Synonymous 35/48 - 1
6-160494962-T-C c.5121T>C p.P1707= Synonymous 35/48 - 1
6-160494962-T-G c.5121T>G p.P1707= Synonymous 35/48 - 1
6-160494963-G-T c.5122G>T p.A1708S Missense 35/48 - 1
6-160494966-G-A c.5125G>A p.G1709R Missense 35/48 - 1
6-160494967-G-A c.5126G>A p.G1709E Missense 35/48 - 2
6-160494967-G-T c.5126G>T p.G1709V Missense 35/48 - 2
6-160494979-G-T c.5138G>T p.C1713F Missense 35/48 - 2
6-160494982-A-T c.5141A>T p.K1714I Missense 35/48 - 1
6-160494984-G-C c.5143G>C p.V1715L Missense 35/48 - 1
6-160494987-C-T c.5146C>T p.P1716S Missense 35/48 - 3
6-160494988-C-A c.5147C>A p.P1716H Missense 35/48 - 1
6-160494990-A-G c.5149A>G p.I1717V Missense 35/48 - 2
6-160494991-T-C c.5150T>C p.I1717T Missense 35/48 - 1
6-160494994-A-T c.5153A>T p.D1718V Missense 35/48 - 2
6-160494996-G-C c.5155G>C p.G1719R Missense 35/48 - 1
6-160494999-C-A c.5158C>A p.P1720T Missense 35/48 - 1
6-160494999-C-T c.5158C>T p.P1720S Missense 35/48 - 1
6-160494998-T-TC c.5163dup p.I1722Hfs*18 Frameshift 35/48 - 1
6-160495007-A-G c.5166A>G p.I1722M Missense 35/48 - 1
6-160495055-A-C c.5166+48A>C - IntronicSNV - 35/47 3
6-160496055-G-A c.5167-824G>A - IntronicSNV - 35/47 1
6-160496817-T-C c.5167-62T>C - IntronicSNV - 35/47 3
6-160496879-G-C c.5167G>C p.D1723H Missense 36/48 - 1
6-160496885-G-C c.5173G>C p.G1725R Missense 36/48 - 1
6-160496886-G-A c.5174G>A p.G1725D Missense 36/48 - 1
6-160496887-C-A c.5175C>A p.G1725= Synonymous 36/48 - 2
6-160496887-C-G c.5175C>G p.G1725= Synonymous 36/48 - 2
6-160496887-C-T c.5175C>T p.G1725= Synonymous 36/48 - 2
6-160496888-C-T c.5176C>T p.R1726W Missense 36/48 - 4
6-160496894-G-T c.5182G>T p.A1728S Missense 36/48 - 2
6-160496898-G-A c.5186G>A p.G1729E Missense 36/48 - 1
6-160496901-C-T c.5189C>T p.P1730L Missense 36/48 - 1
6-160496906-A-G c.5194A>G p.I1732V Missense 36/48 - 1
6-160496911-C-A c.5199C>A p.L1733= Synonymous 36/48 - 1
6-160496911-C-G c.5199C>G p.L1733= Synonymous 36/48 - 1
6-160496911-C-T c.5199C>T p.L1733= Synonymous 36/48 - 1
6-160496916-C-T c.5204C>T p.P1735L Missense 36/48 - 3
6-160496917-A-G c.5205A>G p.P1735= Synonymous 36/48 - 1
6-160496926-T-A c.5214T>A p.N1738K Missense 36/48 - 1
6-160496926-T-G c.5214T>G p.N1738K Missense 36/48 - 1
6-160496927-G-A c.5215G>A p.E1739K Missense 36/48 - 6
6-160496927-G-C c.5215G>C p.E1739Q Missense 36/48 - 2
6-160496930-AT-A c.5221del p.Y1741Tfs*2 Frameshift 36/48 - 1
6-160496934-A-G c.5222A>G p.Y1741C Missense 36/48 - 2
6-160496937-T-C c.5225T>C p.L1742S Missense 36/48 - 1
6-160496945-GA-CT c.5233_5234delinsCT p.E1745L Missense 36/48 - 1
6-160496946-A-G c.5234A>G p.E1745G Missense 36/48 - 1
6-160496949-G-A c.5237G>A p.S1746N Missense 36/48 - 1
6-160496951-A-G c.5239A>G p.S1747G Missense 36/48 - 1
6-160496952-G-A c.5240G>A p.S1747N Missense 36/48 - 3
6-160496954-A-G c.5242A>G p.T1748A Missense 36/48 - 1
6-160496955-C-T c.5243C>T p.T1748I Missense 36/48 - 1
6-160496957-CC-TT c.5245_5246delinsTT p.P1749F Missense 36/48 - 1
6-160496957-C-T c.5245C>T p.P1749S Missense 36/48 - 1
6-160496958-C-T c.5246C>T p.P1749L Missense 36/48 - 1
6-160496966-G-A c.5254G>A p.A1752T Missense 36/48 - 2
6-160496967-C-T c.5255C>T p.A1752V Missense 36/48 - 1
6-160496974-G-A c.5262G>A p.K1754= Synonymous 36/48 - 2
6-160496975-C-T c.5263C>T p.H1755Y Missense 36/48 - 2
6-160496980-C-T c.5268C>T p.F1756= Synonymous 36/48 - 5
6-160496984-T-C c.5272T>C p.Y1758H Missense 36/48 - 1
6-160496989-C-T c.5277C>T p.T1759= Synonymous 36/48 - 1
6-160496991-C-T c.5279C>T p.S1760L Missense 36/48 - 4
6-160496992-G-A c.5280G>A p.S1760= Synonymous 36/48 - 1
6-160496992-G-C c.5280G>C p.S1760= Synonymous 36/48 - 1
6-160496992-G-T c.5280G>T p.S1760= Synonymous 36/48 - 1
6-160496993-C-T c.5281C>T p.L1761F Missense 36/48 - 3
6-160496999-G-A c.5287G>A p.A1763T Missense 36/48 - 7
6-160497000-C-T c.5288C>T p.A1763V Missense 36/48 - 4
6-160497008-T-A c.5296T>A p.C1766S Missense 36/48 - 2
6-160497009-G-C c.5297G>C p.C1766S Missense 36/48 - 2
6-160497010-T-C c.5298T>C p.C1766= Synonymous 36/48 - 1
6-160497017-G-T c.5305G>T p.G1769C Missense 36/48 - 1
6-160497027-T-A c.5315T>A p.M1772K Missense 36/48 - 2
6-160497028-G-A c.5316G>A p.M1772I Missense 36/48 - 1
6-160497028-G-C c.5316G>C p.M1772I Missense 36/48 - 1
6-160497028-G-T c.5316G>T p.M1772I Missense 36/48 - 1
6-160497890-C-T c.5316+862C>T - IntronicSNV - 36/47 1
6-160498049-G-A c.5316+1021G>A - IntronicSNV - 36/47 2
6-160498965-C-G c.5317-268C>G - IntronicSNV - 36/47 1
6-160498965-C-T c.5317-268C>T - IntronicSNV - 36/47 1
6-160499233-G-A c.5317G>A p.G1773R Missense 37/48 - 5
6-160499236-A-T c.5320A>T p.T1774S Missense 37/48 - 1
6-160499237-C-T c.5321C>T p.T1774M Missense 37/48 - 2
6-160499238-G-A c.5322G>A p.T1774= Synonymous 37/48 - 1
6-160499248-T-G c.5332T>G p.L1778V Missense 37/48 - 2
6-160499252-G-A c.5336G>A p.R1779K Missense 37/48 - 1
6-160499257-A-T c.5341A>T p.S1781C Missense 37/48 - 3
6-160499258-G-A c.5342G>A p.S1781N Missense 37/48 - 1
6-160499260-G-A c.5344G>A p.E1782K Missense 37/48 - 2
6-160499260-G-T c.5344G>T p.E1782* Nonsense 37/48 - 1
6-160499262-G-A c.5346G>A p.E1782= Synonymous 37/48 - 1
6-160499264-G-T c.5348G>T p.C1783F Missense 37/48 - 1
6-160499265-C-T c.5349C>T p.C1783= Synonymous 37/48 - 2
6-160499266-G-A c.5350G>A p.D1784N Missense 37/48 - 2
6-160499266-G-C c.5350G>C p.D1784H Missense 37/48 - 2
6-160499270-T-C c.5354T>C p.F1785S Missense 37/48 - 2
6-160499277-C-T c.5361C>T p.F1787= Synonymous 37/48 - 2
6-160499278-G-A c.5362G>A p.E1788K Missense 37/48 - 1
6-160499288-C-A c.5372C>A p.T1791N Missense 37/48 - 1
6-160499293-G-A c.5377G>A p.V1793I Missense 37/48 - 1
6-160499293-G-T c.5377G>T p.V1793F Missense 37/48 - 1
6-160499295-C-A c.5379C>A p.V1793= Synonymous 37/48 - 1
6-160499295-C-G c.5379C>G p.V1793= Synonymous 37/48 - 1
6-160499295-C-T c.5379C>T p.V1793= Synonymous 37/48 - 1
6-160499296-G-A c.5380G>A p.V1794I Missense 37/48 - 4
6-160499299-T-G c.5383T>G p.C1795G Missense 37/48 - 1
6-160499303-C-A c.5387C>A p.P1796H Missense 37/48 - 4
6-160499308-G-A c.5392G>A p.E1798K Missense 37/48 - 1
6-160499308-G-C c.5392G>C p.E1798Q Missense 37/48 - 2
6-160499308-G-T c.5392G>T p.E1798* Nonsense 37/48 - 1
6-160499311-G-C c.5395G>C p.V1799L Missense 37/48 - 1
6-160499311-G-T c.5395G>T p.V1799L Missense 37/48 - 1
6-160499312-T-A c.5396T>A p.V1799E Missense 37/48 - 2
6-160499316-G-C c.5400G>C p.R1800S Missense 37/48 - 1
6-160499316-G-T c.5400G>T p.R1800S Missense 37/48 - 1
6-160499321-A-T c.5405A>T p.D1802V Missense 37/48 - 1
6-160499330-C-T c.5414C>T p.T1805I Missense 37/48 - 1
6-160499331-C-T c.5415C>T p.T1805= Synonymous 37/48 - 1
6-160499335-A-T c.5419A>T p.T1807S Missense 37/48 - 1
6-160499335-A-AC c.5420dup p.D1808Rfs*2 Frameshift 37/48 - 1
6-160499336-C-T c.5420C>T p.T1807I Missense 37/48 - 2
6-160499343-G-T c.5427G>T p.E1809D Missense 37/48 - 1
6-160499351-T-G c.5435T>G p.L1812R Missense 37/48 - 1
6-160499367-G-C c.5451G>C p.L1817F Missense 37/48 - 1
6-160499367-G-T c.5451G>T p.L1817F Missense 37/48 - 1
6-160499369-C-T c.5453C>T p.S1818F Missense 37/48 - 1
6-160499372-G-A c.5456G>A p.S1819N Missense 37/48 - 3
6-160499380-A-G c.5464A>G p.T1822A Missense 37/48 - 1
6-160499381-C-T c.5465C>T p.T1822M Missense 37/48 - 5
6-160499382-G-A c.5466G>A p.T1822= Synonymous 37/48 - 1
6-160499383-A-G c.5467A>G p.S1823G Missense 37/48 - 2
6-160499436-G-A c.5478+42G>A - IntronicSNV - 37/47 1
6-160499565-T-C c.5478+171T>C - IntronicSNV - 37/47 3
6-160500612-G-C c.5479G>C p.V1827L Missense 38/48 - 1
6-160500612-G-T c.5479G>T p.V1827L Missense 38/48 - 1
6-160500618-C-T c.5485C>T p.R1829C Missense 38/48 - 1
6-160500620-C-T c.5487C>T p.R1829= Synonymous 38/48 - 1
6-160500621-GA-CG c.5488_5489delinsCG p.D1830R Missense 38/48 - 1
6-160500623-C-A c.5490C>A p.D1830E Missense 38/48 - 2
6-160500623-C-G c.5490C>G p.D1830E Missense 38/48 - 2
6-160500626-G-A c.5493G>A p.S1831= Synonymous 38/48 - 2
6-160500627-C-T c.5494C>T p.R1832C Missense 38/48 - 1
6-160500628-G-A c.5495G>A p.R1832H Missense 38/48 - 6
6-160500629-C-A c.5496C>A p.R1832= Synonymous 38/48 - 1
6-160500629-C-G c.5496C>G p.R1832= Synonymous 38/48 - 1
6-160500629-C-T c.5496C>T p.R1832= Synonymous 38/48 - 1
6-160500636-A-G c.5503A>G p.S1835G Missense 38/48 - 1
6-160500638-C-T c.5505C>T p.S1835= Synonymous 38/48 - 2
6-160500639-G-A c.5506G>A p.V1836I Missense 38/48 - 1
6-160500641-T-A c.5508T>A p.V1836= Synonymous 38/48 - 1
6-160500641-T-C c.5508T>C p.V1836= Synonymous 38/48 - 1
6-160500641-T-G c.5508T>G p.V1836= Synonymous 38/48 - 1
6-160500650-C-T c.5517C>T p.C1839= Synonymous 38/48 - 1
6-160500657-G-A c.5524G>A p.A1842T Missense 38/48 - 1
6-160500662-C-G c.5529C>G p.V1843= Synonymous 38/48 - 1
6-160500662-C-T c.5529C>T p.V1843= Synonymous 38/48 - 4
6-160500663-G-A c.5530G>A p.G1844R Missense 38/48 - 4
6-160500663-G-C c.5530G>C p.G1844R Missense 38/48 - 2
6-160500663-GGG-AGC c.5530_5532delinsAGC p.G1844S Missense 38/48 - 1
6-160500669-G-C c.5536G>C p.E1846Q Missense 38/48 - 2
6-160500672-C-T c.5539C>T p.Q1847* Nonsense 38/48 - 1
6-160500677-A-C c.5544A>C p.G1848= Synonymous 38/48 - 5
6-160500677-A-G c.5544A>G p.G1848= Synonymous 38/48 - 6
6-160500677-A-T c.5544A>T p.G1848= Synonymous 38/48 - 5
6-160500682-G-A c.5549G>A p.C1850Y Missense 38/48 - 1
6-160500684-A-G c.5551A>G p.K1851E Missense 38/48 - 1
6-160500686-G-C c.5553G>C p.K1851N Missense 38/48 - 1
6-160500690-G-C c.5557G>C p.G1853R Missense 38/48 - 1
6-160500690-G-T c.5557G>T p.G1853* Nonsense 38/48 - 1
6-160500689-CG-C c.5558del p.G1853Efs*20 Frameshift 38/48 - 1
6-160500691-G-A c.5558G>A p.G1853E Missense 38/48 - 1
6-160500693-G-A c.5560G>A p.G1854R Missense 38/48 - 1
6-160500693-G-C c.5560G>C p.G1854R Missense 38/48 - 1
6-160500697-T-C c.5564T>C p.V1855A Missense 38/48 - 1
6-160500701-T-C c.5568T>C p.C1856= Synonymous 38/48 - 2
6-160500703-T-C c.5570T>C p.L1857P Missense 38/48 - 1
6-160500705-CT-GC c.5572_5573delinsGC p.L1858A Missense 38/48 - 1
6-160500707-C-T c.5574C>T p.L1858= Synonymous 38/48 - 1
6-160500709-C-G c.5576C>G p.S1859* Nonsense 38/48 - 1
6-160500709-C-T c.5576C>T p.S1859L Missense 38/48 - 1
6-160500711-G-T c.5578G>T p.G1860C Missense 38/48 - 1
6-160500712-G-A c.5579G>A p.G1860D Missense 38/48 - 2
6-160500714-A-G c.5581A>G p.T1861A Missense 38/48 - 1
6-160500716-C-T c.5583C>T p.T1861= Synonymous 38/48 - 1
6-160500723-G-A c.5590G>A p.A1864T Missense 38/48 - 1
6-160500724-C-G c.5591C>G p.A1864G Missense 38/48 - 1
6-160500728-C-T c.5595C>T p.S1865= Synonymous 38/48 - 1
6-160500734-A-C c.5601A>C p.G1867= Synonymous 38/48 - 1
6-160500734-A-G c.5601A>G p.G1867= Synonymous 38/48 - 1
6-160500734-A-T c.5601A>T p.G1867= Synonymous 38/48 - 1
6-160500735-C-T c.5602C>T p.R1868W Missense 38/48 - 1
6-160500760-A-G c.5627A>G p.Y1876C Missense 38/48 - 1
6-160500770-G-T c.5637G>T p.Q1879H Missense 38/48 - 2
6-160500771-G-T c.5638G>T p.D1880Y Missense 38/48 - 2
6-160500774-G-C c.5641G>C p.E1881Q Missense 38/48 - 3
6-160500777-G-A c.5644G>A p.A1882T Missense 38/48 - 2
6-160500778-C-T c.5645C>T p.A1882V Missense 38/48 - 2
6-160500778-GC-G c.5645del p.A1882Gfs*4 Frameshift 38/48 - 1
6-160500779-G-A c.5646G>A p.A1882= Synonymous 38/48 - 2
6-160500780-G-A c.5647G>A p.V1883I Missense 38/48 - 2
6-160500783-G-A c.5650G>A p.V1884I Missense 38/48 - 2
6-160500785-T-G c.5652T>G p.V1884= Synonymous 38/48 - 1
6-160500787-TTA-T c.5654_5655del p.L1885* Frameshift 38/48 - 1
6-160500794-AC-A c.5661del p.Y1887* Frameshift 38/48 - 1
6-160500795-G-A c.5662G>A p.V1888M Missense 38/48 - 4
6-160500795-G-T c.5662G>T p.V1888L Missense 38/48 - 1
6-160500802-G-A c.5669G>A p.G1890D Missense 38/48 - 1
6-160500807-C-A c.5674C>A p.R1892S Missense 38/48 - 2
6-160500807-CGT-TGG c.5674_5676delinsTGG p.R1892W Missense 38/48 - 1
6-160500807-C-T c.5674C>T p.R1892C Missense 38/48 - 3
6-160500808-G-A c.5675G>A p.R1892H Missense 38/48 - 1
6-160500810-TG-AC c.5677_5678delinsAC p.C1893T Missense 38/48 - 1
6-160500812-C-T c.5679C>T p.C1893= Synonymous 38/48 - 1
6-160500816-C-G c.5683C>G p.P1895A Missense 38/48 - 1
6-160500816-C-T c.5683C>T p.P1895S Missense 38/48 - 2
6-160500817-C-T c.5684C>T p.P1895L Missense 38/48 - 2
6-160500818-A-G c.5685A>G p.P1895= Synonymous 38/48 - 1
6-160500820-G-T c.5686+1G>T - IntronicSNV - 38/47 1
6-160500934-C-A c.5686+115C>A - IntronicSNV - 38/47 1
6-160501165-C-A c.5691C>A p.T1897= Synonymous 39/48 - 1
6-160501165-C-G c.5691C>G p.T1897= Synonymous 39/48 - 1
6-160501165-C-T c.5691C>T p.T1897= Synonymous 39/48 - 1
6-160501166-G-A c.5692G>A p.D1898N Missense 39/48 - 1
6-160501166-G-C c.5692G>C p.D1898H Missense 39/48 - 1
6-160501172-G-A c.5698G>A p.G1900S Missense 39/48 - 1
6-160501173-G-A c.5699G>A p.G1900D Missense 39/48 - 5
6-160501173-G-C c.5699G>C p.G1900A Missense 39/48 - 1
6-160501174-C-A c.5700C>A p.G1900= Synonymous 39/48 - 2
6-160501174-C-G c.5700C>G p.G1900= Synonymous 39/48 - 2
6-160501174-C-T c.5700C>T p.G1900= Synonymous 39/48 - 3
6-160501175-G-A c.5701G>A p.V1901I Missense 39/48 - 14
6-160501176-T-C c.5702T>C p.V1901A Missense 39/48 - 1
6-160501182-G-A c.5708G>A p.C1903Y Missense 39/48 - 1
6-160501183-T-C c.5709T>C p.C1903= Synonymous 39/48 - 1
6-160501185-T-C c.5711T>C p.V1904A Missense 39/48 - 1
6-160501186-C-A c.5712C>A p.V1904= Synonymous 39/48 - 1
6-160501186-C-G c.5712C>G p.V1904= Synonymous 39/48 - 2
6-160501186-C-T c.5712C>T p.V1904= Synonymous 39/48 - 1
6-160501191-C-T c.5717C>T p.P1906L Missense 39/48 - 1
6-160501196-A-G c.5722A>G p.I1908V Missense 39/48 - 2
6-160501197-T-C c.5723T>C p.I1908T Missense 39/48 - 2
6-160501198-A-G c.5724A>G p.I1908M Missense 39/48 - 4
6-160501199-T-C c.5725T>C p.F1909L Missense 39/48 - 1
6-160501199-T-G c.5725T>G p.F1909V Missense 39/48 - 2
6-160501201-C-A c.5727C>A p.F1909L Missense 39/48 - 1
6-160501201-C-G c.5727C>G p.F1909L Missense 39/48 - 1
6-160501208-A-G c.5734A>G p.K1912E Missense 39/48 - 1
6-160501209-A-G c.5735A>G p.K1912R Missense 39/48 - 1
6-160501213-C-G c.5739C>G p.S1913R Missense 39/48 - 1
6-160501216-C-T c.5742C>T p.Y1914= Synonymous 39/48 - 1
6-160501217-G-A c.5743G>A p.E1915K Missense 39/48 - 1
6-160501220-G-A c.5746G>A p.E1916K Missense 39/48 - 1
6-160501221-A-T c.5747A>T p.E1916V Missense 39/48 - 1
6-160501223-T-A c.5749T>A p.C1917S Missense 39/48 - 1
6-160501223-TG-AC c.5749_5750delinsAC p.C1917T Missense 39/48 - 1
6-160501234-G-C c.5760G>C p.E1920D Missense 39/48 - 1
6-160501237-C-A c.5763C>A p.S1921R Missense 39/48 - 1
6-160501238-AGG-CAT c.5764_5766delinsCAT p.R1922H Missense 39/48 - 1
6-160501242-C-T c.5768C>T p.A1923V Missense 39/48 - 6
6-160501252-G-T c.5778G>T p.W1926C Missense 39/48 - 1
6-160501253-TG-AC c.5779_5780delinsAC p.C1927T Missense 39/48 - 1
6-160501254-G-C c.5780G>C p.C1927S Missense 39/48 - 1
6-160501254-G-T c.5780G>T p.C1927F Missense 39/48 - 1
6-160501256-A-T c.5782A>T p.S1928C Missense 39/48 - 1
6-160501266-C-T c.5792C>T p.A1931V Missense 39/48 - 2
6-160501267-G-A c.5793G>A p.A1931= Synonymous 39/48 - 2
6-160501267-G-C c.5793G>C p.A1931= Synonymous 39/48 - 1
6-160501267-G-T c.5793G>T p.A1931= Synonymous 39/48 - 1
6-160501268-G-A c.5794G>A p.D1932N Missense 39/48 - 2
6-160501268-G-T c.5794G>T p.D1932Y Missense 39/48 - 1
6-160501272-A-G c.5798A>G p.Y1933C Missense 39/48 - 4
6-160501273-C-T c.5799C>T p.Y1933= Synonymous 39/48 - 2
6-160501274-G-A c.5800G>A p.D1934N Missense 39/48 - 2
6-160501274-G-C c.5800G>C p.D1934H Missense 39/48 - 1
6-160501275-A-T c.5801A>T p.D1934V Missense 39/48 - 1
6-160501278-G-C c.5804G>C p.R1935T Missense 39/48 - 1
6-160501285-C-T c.5811C>T p.H1937= Synonymous 39/48 - 1
6-160501286-G-A c.5812G>A p.E1938K Missense 39/48 - 3
6-160501286-G-T c.5812G>T p.E1938* Nonsense 39/48 - 1
6-160501287-A-G c.5813A>G p.E1938G Missense 39/48 - 1
6-160501289-T-G c.5815T>G p.W1939G Missense 39/48 - 1
6-160501301-AGA-CAT c.5827_5829delinsCAT p.R1943H Missense 39/48 - 1
6-160501305-A-C c.5831A>C p.H1944P Missense 39/48 - 2
6-160501316-G-A c.5833+9G>A - IntronicSNV - 39/47 1
6-160501707-C-T c.5833+400C>T - IntronicSNV - 39/47 1
6-160502727-T-C c.5833+1420T>C - IntronicSNV - 39/47 1
6-160503656-C-T c.5834-1326C>T - IntronicSNV - 39/47 8
6-160504615-G-A c.5834-367G>A - IntronicSNV - 39/47 1
6-160504615-G-C c.5834-367G>C - IntronicSNV - 39/47 1
6-160504784-C-G c.5834-198C>G - IntronicSNV - 39/47 1
6-160504784-C-T c.5834-198C>T - IntronicSNV - 39/47 1
6-160504984-A-G c.5836A>G p.N1946D Missense 40/48 - 1
6-160504989-C-T c.5841C>T p.S1947= Synonymous 40/48 - 1
6-160504990-T-C c.5842T>C p.Y1948H Missense 40/48 - 1
6-160504993-C-G c.5845C>G p.R1949G Missense 40/48 - 5
6-160504993-C-T c.5845C>T p.R1949W Missense 40/48 - 2
6-160504994-G-A c.5846G>A p.R1949Q Missense 40/48 - 2
6-160504994-G-T c.5846G>T p.R1949L Missense 40/48 - 3
6-160505001-C-T c.5853C>T p.S1951= Synonymous 40/48 - 2
6-160505007-C-A c.5859C>A p.I1953= Synonymous 40/48 - 1
6-160505010-A-G c.5862A>G p.I1954M Missense 40/48 - 3
6-160505019-T-C c.5871T>C p.C1957= Synonymous 40/48 - 1
6-160505021-A-T c.5873A>T p.D1958V Missense 40/48 - 1
6-160505022-T-A c.5874T>A p.D1958E Missense 40/48 - 1
6-160505022-T-G c.5874T>G p.D1958E Missense 40/48 - 1
6-160505029-G-A c.5881G>A p.E1961K Missense 40/48 - 3
6-160505031-G-C c.5883G>C p.E1961D Missense 40/48 - 1
6-160505031-G-T c.5883G>T p.E1961D Missense 40/48 - 1
6-160505032-G-A c.5884G>A p.D1962N Missense 40/48 - 1
6-160505034-C-T c.5886C>T p.D1962= Synonymous 40/48 - 1
6-160505046-A-C c.5898A>C p.P1966= Synonymous 40/48 - 1
6-160505046-A-G c.5898A>G p.P1966= Synonymous 40/48 - 1
6-160505046-A-T c.5898A>T p.P1966= Synonymous 40/48 - 1
6-160505053-T-C c.5905T>C p.F1969L Missense 40/48 - 1
6-160505055-C-A c.5907C>A p.F1969L Missense 40/48 - 1
6-160505055-C-G c.5907C>G p.F1969L Missense 40/48 - 1
6-160505055-C-T c.5907C>T p.F1969= Synonymous 40/48 - 1
6-160505057-G-A c.5909G>A p.S1970N Missense 40/48 - 1
6-160505060-A-G c.5912A>G p.E1971G Missense 40/48 - 1
6-160505064-G-A c.5916G>A p.V1972= Synonymous 40/48 - 1
6-160505065-C-T c.5917C>T p.R1973C Missense 40/48 - 7
6-160505066-G-C c.5918G>C p.R1973P Missense 40/48 - 2
6-160505068-G-A c.5920G>A p.G1974R Missense 40/48 - 1
6-160505068-G-C c.5920G>C p.G1974R Missense 40/48 - 1
6-160505069-G-T c.5921G>T p.G1974V Missense 40/48 - 2
6-160505073-T-C c.5925T>C p.C1975= Synonymous 40/48 - 1
6-160505075-A-T c.5927A>T p.D1976V Missense 40/48 - 1
6-160505080-A-G c.5932A>G p.T1978A Missense 40/48 - 4
6-160505083-T-C c.5935T>C p.F1979L Missense 40/48 - 1
6-160505086-G-A c.5938G>A p.E1980K Missense 40/48 - 1
6-160505102-T-G c.5954T>G p.V1985G Missense 40/48 - 1
6-160505103-T-C c.5955T>C p.V1985= Synonymous 40/48 - 1
6-160505104-G-A c.5956G>A p.V1986I Missense 40/48 - 2
6-160505107-TG-GC c.5959_5960delinsGC p.C1987A Missense 40/48 - 1
6-160505109-C-T c.5961C>T p.C1987= Synonymous 40/48 - 3
6-160505110-C-A c.5962C>A p.P1988T Missense 40/48 - 1
6-160505113-C-G c.5965C>G p.P1989A Missense 40/48 - 2
6-160505118-G-A c.5970G>A p.K1990= Synonymous 40/48 - 2
6-160505128-T-G c.5980T>G p.C1994G Missense 40/48 - 1
6-160505129-G-A c.5981G>A p.C1994Y Missense 40/48 - 1
6-160505129-G-T c.5981G>T p.C1994F Missense 40/48 - 1
6-160505135-T-C c.5987T>C p.F1996S Missense 40/48 - 2
6-160505137-G-A c.5989G>A p.V1997I Missense 40/48 - 1
6-160505140-C-A c.5992C>A p.Q1998K Missense 40/48 - 1
6-160505142-G-A c.5994G>A p.Q1998= Synonymous 40/48 - 1
6-160505143-A-G c.5995A>G p.K1999E Missense 40/48 - 1
6-160505157-C-T c.6009C>T p.Y2003= Synonymous 40/48 - 3
6-160505158-G-A c.6010G>A p.D2004N Missense 40/48 - 4
6-160505160-C-T c.6012C>T p.D2004= Synonymous 40/48 - 1
6-160505164-C-A c.6016C>A p.R2006= Synonymous 40/48 - 1
6-160505166-G-A c.6018G>A p.R2006= Synonymous 40/48 - 1
6-160505166-G-C c.6018G>C p.R2006= Synonymous 40/48 - 1
6-160505166-G-T c.6018G>T p.R2006= Synonymous 40/48 - 1
6-160505170-C-G c.6022C>G p.L2008V Missense 40/48 - 2
6-160505174-C-A c.6026C>A p.S2009Y Missense 40/48 - 1
6-160505177-C-G c.6029C>G p.S2010C Missense 40/48 - 1
6-160505177-C-T c.6029C>T p.S2010F Missense 40/48 - 1
6-160505182-AC-TG c.6034_6035delinsTG p.T2012C Missense 40/48 - 1
6-160505185-G-A c.6037G>A p.G2013R Missense 40/48 - 1
6-160505189-C-T c.6041C>T p.S2014F Missense 40/48 - 2
6-160505195-C-A c.6047C>A p.S2016Y Missense 40/48 - 1
6-160505195-C-T c.6047C>T p.S2016F Missense 40/48 - 2
6-160505197-C-G c.6049C>G p.L2017V Missense 40/48 - 4
6-160505199-C-A c.6051C>A p.L2017= Synonymous 40/48 - 18
6-160505199-C-G c.6051C>G p.L2017= Synonymous 40/48 - 25
6-160505199-C-T c.6051C>T p.L2017= Synonymous 40/48 - 17
6-160505202-C-T c.6054C>T p.V2018= Synonymous 40/48 - 3
6-160505207-A-G c.6059A>G p.N2020S Missense 40/48 - 21
6-160505208-C-T c.6060C>T p.N2020= Synonymous 40/48 - 1
6-160505209-G-A c.6061G>A p.G2021R Missense 40/48 - 2
6-160505209-G-C c.6061G>C p.G2021R Missense 40/48 - 1
6-160505216-C-T c.6068C>T p.S2023L Missense 40/48 - 1
6-160505312-G-C c.6068+96G>C - IntronicSNV - 40/47 1
6-160505983-G-A c.6069-44G>A - IntronicSNV - 40/47 1
6-160506032-A-C c.6074A>C p.Y2025S Missense 41/48 - 1
6-160506032-A-G c.6074A>G p.Y2025C Missense 41/48 - 1
6-160506033-T-A c.6075T>A p.Y2025* Nonsense 41/48 - 1
6-160506033-T-G c.6075T>G p.Y2025* Nonsense 41/48 - 1
6-160506034-A-G c.6076A>G p.I2026V Missense 41/48 - 1
6-160506040-C-T c.6082C>T p.L2028= Synonymous 41/48 - 2
6-160506047-A-G c.6089A>G p.Q2030R Missense 41/48 - 1
6-160506055-T-C c.6097T>C p.Y2033H Missense 41/48 - 1
6-160506062-G-A c.6104G>A p.G2035E Missense 41/48 - 3
6-160506065-C-T c.6107C>T p.P2036L Missense 41/48 - 2
6-160506070-GG-AC c.6112_6113delinsAC p.G2038T Missense 41/48 - 1
6-160506071-G-A c.6113G>A p.G2038D Missense 41/48 - 1
6-160506071-G-C c.6113G>C p.G2038A Missense 41/48 - 1
6-160506076-T-C c.6118T>C p.S2040P Missense 41/48 - 2
6-160506085-G-A c.6127G>A p.A2043T Missense 41/48 - 6
6-160506086-C-T c.6128C>T p.A2043V Missense 41/48 - 1
6-160506089-AG-A c.6131del p.S2044Tfs*25 Frameshift 41/48 - 1
6-160506093-T-A c.6135T>A p.I2045= Synonymous 41/48 - 2
6-160506093-T-C c.6135T>C p.I2045= Synonymous 41/48 - 2
6-160506097-AGA-TGG c.6139_6141delinsTGG p.R2047W Missense 41/48 - 1
6-160506109-A-G c.6151A>G p.T2051A Missense 41/48 - 1
6-160506112-G-A c.6154G>A p.G2052S Missense 41/48 - 1
6-160506117-C-T c.6159C>T p.D2053= Synonymous 41/48 - 1
6-160506118-G-A c.6160G>A p.V2054I Missense 41/48 - 3
6-160506118-G-T c.6160G>T p.V2054F Missense 41/48 - 4
6-160506123-G-C c.6165G>C p.Q2055H Missense 41/48 - 1
6-160506124-G-T c.6166G>T p.V2056F Missense 41/48 - 1
6-160506136-G-A c.6178G>A p.V2060I Missense 41/48 - 1
6-160506148-A-C c.6190A>C p.K2064Q Missense 41/48 - 1
6-160506152-T-C c.6194T>C p.L2065P Missense 41/48 - 1
6-160506154-G-A c.6196G>A p.G2066S Missense 41/48 - 1
6-160506154-G-C c.6196G>C p.G2066R Missense 41/48 - 1
6-160506157-GTC-ATG c.6199_6201delinsATG p.V2067M Missense 41/48 - 1
6-160506159-C-A c.6201C>A p.V2067= Synonymous 41/48 - 1
6-160506159-C-G c.6201C>G p.V2067= Synonymous 41/48 - 1
6-160506159-C-T c.6201C>T p.V2067= Synonymous 41/48 - 1
6-160506160-A-T c.6202A>T p.I2068L Missense 41/48 - 1
6-160506462-G-A c.6205+299G>A - IntronicSNV - 41/47 1
6-160507298-A-G c.6205+1135A>G - IntronicSNV - 41/47 1
6-160507478-A-G c.6205+1315A>G - IntronicSNV - 41/47 2
6-160508172-T-C c.6206-893T>C - IntronicSNV - 41/47 1
6-160508896-C-T c.6206-169C>T - IntronicSNV - 41/47 1
6-160509069-C-A c.6210C>A p.D2070E Missense 42/48 - 3
6-160509069-C-G c.6210C>G p.D2070E Missense 42/48 - 4
6-160509071-A-G c.6212A>G p.K2071R Missense 42/48 - 2
6-160509083-C-T c.6224C>T p.T2075M Missense 42/48 - 1
6-160509084-G-A c.6225G>A p.T2075= Synonymous 42/48 - 2
6-160509084-G-C c.6225G>C p.T2075= Synonymous 42/48 - 1
6-160509084-G-T c.6225G>T p.T2075= Synonymous 42/48 - 1
6-160509092-A-T c.6233A>T p.K2078I Missense 42/48 - 1
6-160509098-A-G c.6239A>G p.Y2080C Missense 42/48 - 3
6-160509100-C-T c.6241C>T p.P2081S Missense 42/48 - 2
6-160509101-C-A c.6242C>A p.P2081Q Missense 42/48 - 1
6-160509101-C-T c.6242C>T p.P2081L Missense 42/48 - 1
6-160509103-T-C c.6244T>C p.C2082R Missense 42/48 - 1
6-160509116-A-G c.6257A>G p.K2086R Missense 42/48 - 1
6-160509117-G-T c.6258G>T p.K2086N Missense 42/48 - 1
6-160509118-A-T c.6259A>T p.T2087S Missense 42/48 - 1
6-160509119-C-G c.6260C>G p.T2087S Missense 42/48 - 1
6-160509121-G-A c.6262G>A p.A2088T Missense 42/48 - 14
6-160509124-T-A c.6265T>A p.S2089T Missense 42/48 - 1
6-160509125-C-A c.6266C>A p.S2089Y Missense 42/48 - 1
6-160509125-C-T c.6266C>T p.S2089F Missense 42/48 - 3
6-160509127-T-G c.6268T>G p.S2090A Missense 42/48 - 1
6-160509128-C-T c.6269C>T p.S2090F Missense 42/48 - 4
6-160509129-C-T c.6270C>T p.S2090= Synonymous 42/48 - 1
6-160509130-G-A c.6271G>A p.V2091M Missense 42/48 - 1
6-160509135-A-C c.6276A>C p.I2092= Synonymous 42/48 - 1
6-160509135-A-T c.6276A>T p.I2092= Synonymous 42/48 - 1
6-160509140-T-C c.6281T>C p.L2094S Missense 42/48 - 3
6-160509147-T-C c.6288T>C p.C2096= Synonymous 42/48 - 2
6-160509152-A-G c.6293A>G p.K2098R Missense 42/48 - 1
6-160509153-G-T c.6294G>T p.K2098N Missense 42/48 - 1
6-160509155-C-T c.6296C>T p.T2099M Missense 42/48 - 1
6-160509157-G-A c.6298G>A p.V2100M Missense 42/48 - 1
6-160509160-G-A c.6301G>A p.G2101S Missense 42/48 - 1
6-160509163-AGA-TGT c.6304_6306delinsTGT p.R2102C Missense 42/48 - 1
6-160509166-C-G c.6307C>G p.P2103A Missense 42/48 - 1
6-160509170-C-A c.6311C>A p.A2104E Missense 42/48 - 1
6-160509177-G-C c.6318G>C p.K2106N Missense 42/48 - 2
6-160509177-G-T c.6318G>T p.K2106N Missense 42/48 - 3
6-160509181-T-C c.6320+2T>C - IntronicSNV - 42/47 1
6-160509183-A-C c.6320+4A>C - IntronicSNV - 42/47 1
6-160510146-A-G c.6328A>G p.I2110V Missense 43/48 - 1
6-160510147-T-A c.6329T>A p.I2110N Missense 43/48 - 1
6-160510147-T-C c.6329T>C p.I2110T Missense 43/48 - 3
6-160510149-G-A c.6331G>A p.D2111N Missense 43/48 - 1
6-160510153-G-C c.6335G>C p.S2112T Missense 43/48 - 1
6-160510161-T-TA c.6344dup p.Y2115* Nonsense 43/48 - 4
6-160510163-ACT-A c.6345_6346del p.Y2115* Frameshift 43/48 - 1
6-160510163-C-A c.6345C>A p.Y2115* Nonsense 43/48 - 1
6-160510163-C-G c.6345C>G p.Y2115* Nonsense 43/48 - 1
6-160510166-C-G c.6348C>G p.Y2116* Nonsense 43/48 - 1
6-160510169-C-T c.6351C>T p.F2117= Synonymous 43/48 - 1
6-160510170-A-G c.6352A>G p.S2118G Missense 43/48 - 2
6-160510171-G-A c.6353G>A p.S2118N Missense 43/48 - 2
6-160510188-G-A c.6370G>A p.A2124T Missense 43/48 - 7
6-160510192-G-T c.6374G>T p.C2125F Missense 43/48 - 1
6-160510193-C-T c.6375C>T p.C2125= Synonymous 43/48 - 4
6-160510194-G-A c.6376G>A p.A2126T Missense 43/48 - 1
6-160510197-G-A c.6379G>A p.V2127M Missense 43/48 - 1
6-160510202-G-A c.6384G>A p.K2128= Synonymous 43/48 - 5
6-160510205-T-C c.6387T>C p.P2129= Synonymous 43/48 - 2
6-160510206-C-T c.6388C>T p.Q2130* Nonsense 43/48 - 1
6-160510207-A-T c.6389A>T p.Q2130L Missense 43/48 - 1
6-160510210-A-G c.6392A>G p.E2131G Missense 43/48 - 1
6-160510217-G-C c.6399G>C p.Q2133H Missense 43/48 - 3
6-160510217-G-T c.6399G>T p.Q2133H Missense 43/48 - 5
6-160510221-G-C c.6403G>C p.V2135L Missense 43/48 - 1
6-160510221-G-T c.6403G>T p.V2135L Missense 43/48 - 1
6-160510229-G-A c.6411G>A p.G2137= Synonymous 43/48 - 1
6-160510229-G-C c.6411G>C p.G2137= Synonymous 43/48 - 1
6-160510229-G-T c.6411G>T p.G2137= Synonymous 43/48 - 1
6-160510237-C-T c.6419C>T p.T2140I Missense 43/48 - 2
6-160510242-C-T c.6424C>T p.P2142S Missense 43/48 - 3
6-160510247-A-G c.6429A>G p.I2143M Missense 43/48 - 1
6-160510252-G-C c.6434G>C p.G2145A Missense 43/48 - 1
6-160510254-A-G c.6436A>G p.K2146E Missense 43/48 - 1
6-160510257-A-C c.6439A>C p.S2147R Missense 43/48 - 3
6-160510259-C-A c.6441C>A p.S2147R Missense 43/48 - 3
6-160510259-C-G c.6441C>G p.S2147R Missense 43/48 - 6
6-160510264-G-A c.6446G>A p.S2149N Missense 43/48 - 1
6-160510264-GC-G c.6448del p.L2150Sfs*15 Frameshift 43/48 - 1
6-160510268-C-T c.6450C>T p.L2150= Synonymous 43/48 - 1
6-160510269-G-A c.6451G>A p.G2151R Missense 43/48 - 1
6-160510269-G-C c.6451G>C p.G2151R Missense 43/48 - 1
6-160510271-A-T c.6453A>T p.G2151= Synonymous 43/48 - 2
6-160510272-G-T c.6454G>T p.D2152Y Missense 43/48 - 1
6-160510274-T-C c.6456T>C p.D2152= Synonymous 43/48 - 1
6-160510275-A-T c.6457A>T p.I2153F Missense 43/48 - 1
6-160510275-ATT-A c.6459_6460del p.Y2154Ffs*2 Frameshift 43/48 - 1
6-160510277-TTA-T c.6461_6462del p.Y2154Ffs*2 Frameshift 43/48 - 2
6-160510323-T-C c.6467+38T>C - IntronicSNV - 43/47 1
6-160510955-AGA-TGT c.6475_6477delinsTGT p.R2159C Missense 44/48 - 1
6-160510956-G-C c.6476G>C p.R2159T Missense 44/48 - 4
6-160510964-G-A c.6484G>A p.G2162R Missense 44/48 - 1
6-160510964-G-C c.6484G>C p.G2162R Missense 44/48 - 1
6-160510965-G-A c.6485G>A p.G2162E Missense 44/48 - 2
6-160510965-G-C c.6485G>C p.G2162A Missense 44/48 - 1
6-160510965-G-T c.6485G>T p.G2162V Missense 44/48 - 1
6-160510963-TG-T c.6487del p.D2163Tfs*2 Frameshift 44/48 - 1
6-160510968-A-G c.6488A>G p.D2163G Missense 44/48 - 2
6-160510968-A-T c.6488A>T p.D2163V Missense 44/48 - 1
6-160510976-A-T c.6496A>T p.T2166S Missense 44/48 - 1
6-160510985-G-A c.6505G>A p.D2169N Missense 44/48 - 1
6-160510991-T-C c.6511T>C p.Y2171H Missense 44/48 - 1
6-160510993-C-A c.6513C>A p.Y2171* Nonsense 44/48 - 1
6-160510993-C-G c.6513C>G p.Y2171* Nonsense 44/48 - 1
6-160511000-G-C c.6520G>C p.E2174Q Missense 44/48 - 1
6-160511003-A-G c.6523A>G p.I2175V Missense 44/48 - 1
6-160511005-C-G c.6525C>G p.I2175M Missense 44/48 - 1
6-160511006-C-T c.6526C>T p.Q2176* Nonsense 44/48 - 1
6-160511007-A-G c.6527A>G p.Q2176R Missense 44/48 - 1
6-160511008-A-G c.6528A>G p.Q2176= Synonymous 44/48 - 2
6-160511018-A-G c.6538A>G p.I2180V Missense 44/48 - 3
6-160511025-G-A c.6545G>A p.S2182N Missense 44/48 - 1
6-160511027-T-C c.6547T>C p.S2183P Missense 44/48 - 1
6-160511028-C-T c.6548C>T p.S2183F Missense 44/48 - 2
6-160511031-G-A c.6551G>A p.R2184K Missense 44/48 - 2
6-160511031-G-C c.6551G>C p.R2184T Missense 44/48 - 1
6-160511036-C-T c.6556C>T p.P2186S Missense 44/48 - 1
6-160511037-C-A c.6557C>A p.P2186Q Missense 44/48 - 1
6-160511040-C-T c.6560C>T p.A2187V Missense 44/48 - 6
6-160511042-T-G c.6562T>G p.C2188G Missense 44/48 - 1
6-160511046-C-T c.6566C>T p.S2189F Missense 44/48 - 1
6-160511055-A-C c.6575A>C p.N2192T Missense 44/48 - 1
6-160511055-A-G c.6575A>G p.N2192S Missense 44/48 - 2
6-160511061-G-A c.6581G>A p.C2194Y Missense 44/48 - 1
6-160511065-G-A c.6585G>A p.Q2195= Synonymous 44/48 - 3
6-160511076-A-G c.6596A>G p.N2199S Missense 44/48 - 1
6-160511077-C-T c.6597C>T p.N2199= Synonymous 44/48 - 1
6-160511081-C-A c.6601C>A p.Q2201K Missense 44/48 - 1
6-160511085-A-T c.6605A>T p.H2202L Missense 44/48 - 1
6-160511089-C-T c.6609C>T p.F2203= Synonymous 44/48 - 2
6-160511093-C-T c.6613C>T p.R2205W Missense 44/48 - 3
6-160511104-A-C c.6624A>C p.G2208= Synonymous 44/48 - 1
6-160511104-A-G c.6624A>G p.G2208= Synonymous 44/48 - 1
6-160511104-A-T c.6624A>T p.G2208= Synonymous 44/48 - 1
6-160511106-C-A c.6626C>A p.T2209N Missense 44/48 - 1
6-160511106-C-T c.6626C>T p.T2209I Missense 44/48 - 1
6-160511108-T-TTTTGTCCCACCCGAGGTGTTCAAGCAGCCTGG c.6628_6629insTTTGTCCCACCCGAGGTGTTCAAGCAGCCTGG p.S2210Ffs*137 Frameshift 44/48 - 1
6-160511111-G-T c.6631G>T p.D2211Y Missense 44/48 - 2
6-160511126-T-C c.6646T>C p.Y2216H Missense 44/48 - 1
6-160511131-T-G c.6651T>G p.L2217= Synonymous 44/48 - 1
6-160511135-G-T c.6655G>T p.D2219Y Missense 44/48 - 3
6-160511249-C-T c.6655+114C>T - IntronicSNV - 44/47 1
6-160511250-T-A c.6655+115T>A - IntronicSNV - 44/47 5
6-160511354-G-A c.6655+219G>A - IntronicSNV - 44/47 1
6-160511893-T-C c.6655+758T>C - IntronicSNV - 44/47 1
6-160511933-T-G c.6655+798T>G - IntronicSNV - 44/47 1
6-160514246-A-G c.6655+3111A>G - IntronicSNV - 44/47 3
6-160514246-A-T c.6655+3111A>T - IntronicSNV - 44/47 3
6-160514541-T-C c.6656-2930T>C - IntronicSNV - 44/47 4
6-160515145-G-A c.6656-2326G>A - IntronicSNV - 44/47 2
6-160517462-G-A c.6656-9G>A - IntronicSNV - 44/47 1
6-160517462-G-C c.6656-9G>C - IntronicSNV - 44/47 1
6-160517471-A-T c.6656A>T p.D2219V Missense 45/48 - 1
6-160517472-C-T c.6657C>T p.D2219= Synonymous 45/48 - 4
6-160517473-G-A c.6658G>A p.G2220S Missense 45/48 - 1
6-160517473-G-T c.6658G>T p.G2220C Missense 45/48 - 1
6-160517475-C-A c.6660C>A p.G2220= Synonymous 45/48 - 2
6-160517475-C-G c.6660C>G p.G2220= Synonymous 45/48 - 2
6-160517475-C-T c.6660C>T p.G2220= Synonymous 45/48 - 3
6-160517476-G-T c.6661G>T p.D2221Y Missense 45/48 - 1
6-160517481-C-A c.6666C>A p.L2222= Synonymous 45/48 - 7
6-160517481-C-G c.6666C>G p.L2222= Synonymous 45/48 - 2
6-160517481-C-T c.6666C>T p.L2222= Synonymous 45/48 - 12
6-160517482-G-C c.6667G>C p.D2223H Missense 45/48 - 1
6-160517488-G-A c.6673G>A p.V2225M Missense 45/48 - 3
6-160517488-G-T c.6673G>T p.V2225L Missense 45/48 - 1
6-160517493-T-A c.6678T>A p.F2226L Missense 45/48 - 1
6-160517497-CT-C c.6682del p.S2228Lfs*108 Frameshift 45/48 - 1
6-160517500-T-C c.6685T>C p.S2229P Missense 45/48 - 1
6-160517501-C-G c.6686C>G p.S2229C Missense 45/48 - 3
6-160517504-C-G c.6689C>G p.S2230C Missense 45/48 - 1
6-160517509-T-C c.6694T>C p.C2232R Missense 45/48 - 1
6-160517512-G-A c.6697G>A p.G2233R Missense 45/48 - 2
6-160517512-G-C c.6697G>C p.G2233R Missense 45/48 - 2
6-160517513-G-C c.6698G>C p.G2233A Missense 45/48 - 1
6-160517516-A-G c.6701A>G p.K2234R Missense 45/48 - 1
6-160517517-G-C c.6702G>C p.K2234N Missense 45/48 - 1
6-160517517-G-T c.6702G>T p.K2234N Missense 45/48 - 1
6-160517522-A-C c.6707A>C p.K2236T Missense 45/48 - 2
6-160517529-G-A c.6714G>A p.K2238= Synonymous 45/48 - 1
6-160517534-T-C c.6719T>C p.V2240A Missense 45/48 - 1
6-160517537-C-G c.6722C>G p.S2241C Missense 45/48 - 1
6-160517540-C-A c.6725C>A p.S2242Y Missense 45/48 - 1
6-160517543-C-T c.6728C>T p.T2243I Missense 45/48 - 4
6-160517548-T-C c.6733T>C p.F2245L Missense 45/48 - 1
6-160517548-T-G c.6733T>G p.F2245V Missense 45/48 - 1
6-160517550-C-A c.6735C>A p.F2245L Missense 45/48 - 1
6-160517550-C-G c.6735C>G p.F2245L Missense 45/48 - 1
6-160517551-T-C c.6736T>C p.F2246L Missense 45/48 - 1
6-160517552-T-C c.6737T>C p.F2246S Missense 45/48 - 1
6-160517553-C-T c.6738C>T p.F2246= Synonymous 45/48 - 2
6-160517563-C-T c.6748C>T p.P2250S Missense 45/48 - 1
6-160517575-G-A c.6760G>A p.D2254N Missense 45/48 - 1
6-160517577-C-T c.6762C>T p.D2254= Synonymous 45/48 - 2
6-160517578-G-T c.6763G>T p.G2255W Missense 45/48 - 1
6-160517593-A-G c.6778A>G p.S2260G Missense 45/48 - 2
6-160517597-A-T c.6782A>T p.H2261L Missense 45/48 - 1
6-160517598-C-T c.6783C>T p.H2261= Synonymous 45/48 - 1
6-160517599-G-A c.6784G>A p.E2262K Missense 45/48 - 3
6-160517606-C-T c.6791C>T p.A2264V Missense 45/48 - 1
6-160517607-C-A c.6792C>A p.A2264= Synonymous 45/48 - 1
6-160517607-C-G c.6792C>G p.A2264= Synonymous 45/48 - 1
6-160517607-C-T c.6792C>T p.A2264= Synonymous 45/48 - 1
6-160517608-G-A c.6793G>A p.D2265N Missense 45/48 - 1
6-160517609-A-G c.6794A>G p.D2265G Missense 45/48 - 1
6-160517610-C-T c.6795C>T p.D2265= Synonymous 45/48 - 1
6-160517616-G-A c.6801G>A p.Q2267= Synonymous 45/48 - 3
6-160517617-T-C c.6802T>C p.Y2268H Missense 45/48 - 1
6-160517637-C-A c.6822C>A p.T2274= Synonymous 45/48 - 1
6-160517637-C-G c.6822C>G p.T2274= Synonymous 45/48 - 1
6-160517637-C-T c.6822C>T p.T2274= Synonymous 45/48 - 2
6-160517644-G-C c.6829G>C p.V2277L Missense 45/48 - 3
6-160517644-G-T c.6829G>T p.V2277L Missense 45/48 - 5
6-160517655-G-T c.6840G>T p.L2280= Synonymous 45/48 - 1
6-160517656-G-A c.6841G>A p.G2281R Missense 45/48 - 1
6-160517656-G-C c.6841G>C p.G2281R Missense 45/48 - 1
6-160517888-C-T c.6842+231C>T - IntronicSNV - 45/47 1
6-160519020-C-T c.6842+1363C>T - IntronicSNV - 45/47 1
6-160519514-AT-A c.6842+1866del - IntronicDeletion - 45/47 1
6-160520768-C-T c.6843-2783C>T - IntronicSNV - 45/47 1
6-160521885-C-T c.6843-1666C>T - IntronicSNV - 45/47 3
6-160523369-C-A c.6843-182C>A - IntronicSNV - 45/47 1
6-160523369-C-T c.6843-182C>T - IntronicSNV - 45/47 1
6-160523553-T-C c.6845T>C p.V2282A Missense 46/48 - 1
6-160523557-C-A c.6849C>A p.G2283= Synonymous 46/48 - 1
6-160523557-C-G c.6849C>G p.G2283= Synonymous 46/48 - 1
6-160523557-C-T c.6849C>T p.G2283= Synonymous 46/48 - 1
6-160523558-T-G c.6850T>G p.F2284V Missense 46/48 - 2
6-160523560-T-C c.6852T>C p.F2284= Synonymous 46/48 - 3
6-160523561-G-A c.6853G>A p.D2285N Missense 46/48 - 1
6-160523566-C-T c.6858C>T p.S2286= Synonymous 46/48 - 2
6-160523573-C-T c.6865C>T p.P2289S Missense 46/48 - 2
6-160523575-C-A c.6867C>A p.P2289= Synonymous 46/48 - 1
6-160523575-C-G c.6867C>G p.P2289= Synonymous 46/48 - 1
6-160523575-C-T c.6867C>T p.P2289= Synonymous 46/48 - 1
6-160523576-G-A c.6868G>A p.G2290R Missense 46/48 - 1
6-160523577-G-T c.6869G>T p.G2290V Missense 46/48 - 1
6-160523575-CG-C c.6871del p.D2291Tfs*45 Frameshift 46/48 - 1
6-160523581-C-T c.6873C>T p.D2291= Synonymous 46/48 - 1
6-160523582-G-A c.6874G>A p.D2292N Missense 46/48 - 2
6-160523585-G-A c.6877G>A p.G2293R Missense 46/48 - 1
6-160523585-G-T c.6877G>T p.G2293W Missense 46/48 - 1
6-160523590-G-A c.6882G>A p.Q2294= Synonymous 46/48 - 1
6-160523595-A-G c.6887A>G p.H2296R Missense 46/48 - 1
6-160523601-G-A c.6893G>A p.G2298E Missense 46/48 - 1
6-160523607-C-A c.6899C>A p.S2300* Nonsense 46/48 - 1
6-160523607-C-G c.6899C>G p.S2300* Nonsense 46/48 - 1
6-160523609-G-A c.6901G>A p.E2301K Missense 46/48 - 1
6-160523623-A-G c.6915A>G p.A2305= Synonymous 46/48 - 1
6-160523626-C-A c.6918C>A p.V2306= Synonymous 46/48 - 2
6-160523626-C-G c.6918C>G p.V2306= Synonymous 46/48 - 3
6-160523626-C-T c.6918C>T p.V2306= Synonymous 46/48 - 3
6-160523627-G-A c.6919G>A p.G2307S Missense 46/48 - 2
6-160523629-C-A c.6921C>A p.G2307= Synonymous 46/48 - 1
6-160523629-C-G c.6921C>G p.G2307= Synonymous 46/48 - 1
6-160523629-C-T c.6921C>T p.G2307= Synonymous 46/48 - 4
6-160523630-G-A c.6922G>A p.A2308T Missense 46/48 - 1
6-160523630-G-T c.6922G>T p.A2308S Missense 46/48 - 1
6-160523631-C-T c.6923C>T p.A2308V Missense 46/48 - 4
6-160523633-G-C c.6925G>C p.V2309L Missense 46/48 - 1
6-160523633-G-T c.6925G>T p.V2309L Missense 46/48 - 2
6-160523636-C-T c.6928C>T p.L2310F Missense 46/48 - 1
6-160523639-A-G c.6931A>G p.S2311G Missense 46/48 - 1
6-160523640-G-A c.6932G>A p.S2311N Missense 46/48 - 1
6-160523640-GC-G c.6934del p.L2312Cfs*24 Frameshift 46/48 - 1
6-160523644-G-C c.6936G>C p.L2312= Synonymous 46/48 - 1
6-160523647-GCTGGTGGCGCTCACCTGCTGC-G c.6943_6963del p.V2315_L2321del InFrameDeletion 46/48 - 3
6-160523655-C-T c.6947C>T p.A2316V Missense 46/48 - 1
6-160523656-G-A c.6948G>A p.A2316= Synonymous 46/48 - 1
6-160523670-T-C c.6962T>C p.L2321P Missense 46/48 - 1
6-160523671-G-T c.6963G>T p.L2321= Synonymous 46/48 - 3
6-160523673-T-A c.6965T>A p.L2322Q Missense 46/48 - 1
6-160523675-G-C c.6967G>C p.A2323P Missense 46/48 - 1
6-160523694-A-G c.6986A>G p.K2329R Missense 46/48 - 2
6-160523695-G-C c.6987G>C p.K2329N Missense 46/48 - 4
6-160523695-G-T c.6987G>T p.K2329N Missense 46/48 - 2
6-160523709-C-G c.6995+6C>G - IntronicSNV - 46/47 2
6-160523709-C-T c.6995+6C>T - IntronicSNV - 46/47 4
6-160523724-G-A c.6995+21G>A - IntronicSNV - 46/47 1
6-160524578-C-G c.6996-200C>G - IntronicSNV - 46/47 1
6-160524671-A-G c.6996-107A>G - IntronicSNV - 46/47 4
6-160524773-T-A c.6996-5T>A - IntronicSNV - 46/47 8
6-160524773-T-C c.6996-5T>C - IntronicSNV - 46/47 8
6-160524780-A-C c.6998A>C p.E2333A Missense 47/48 - 1
6-160524780-A-G c.6998A>G p.E2333G Missense 47/48 - 1
6-160524787-G-A c.7005G>A p.V2335= Synonymous 47/48 - 1
6-160524787-G-C c.7005G>C p.V2335= Synonymous 47/48 - 1
6-160524787-G-T c.7005G>T p.V2335= Synonymous 47/48 - 2
6-160524790-A-G c.7008A>G p.I2336M Missense 47/48 - 1
6-160524806-T-A c.7024T>A p.C2342S Missense 47/48 - 1
6-160524806-T-C c.7024T>C p.C2342R Missense 47/48 - 1
6-160524811-T-C c.7029T>C p.C2343= Synonymous 47/48 - 1
6-160524811-TAGG-T c.7032_7034del p.R2345del InFrameDeletion 47/48 - 2
6-160524814-G-A c.7032G>A p.R2344= Synonymous 47/48 - 1
6-160524816-G-A c.7034G>A p.R2345K Missense 47/48 - 1
6-160524818-A-C c.7036A>C p.S2346R Missense 47/48 - 1
6-160524818-A-G c.7036A>G p.S2346G Missense 47/48 - 3
6-160524822-C-G c.7040C>G p.S2347C Missense 47/48 - 1
6-160524823-C-A c.7041C>A p.S2347= Synonymous 47/48 - 1
6-160524823-C-G c.7041C>G p.S2347= Synonymous 47/48 - 1
6-160524823-C-T c.7041C>T p.S2347= Synonymous 47/48 - 1
6-160524825-A-G c.7043A>G p.N2348S Missense 47/48 - 11
6-160524827-G-A c.7045G>A p.V2349M Missense 47/48 - 1
6-160524828-TG-AC c.7046_7047delinsAC p.V2349D Missense 47/48 - 1
6-160524832-C-A c.7050C>A p.S2350= Synonymous 47/48 - 1
6-160524832-C-G c.7050C>G p.S2350= Synonymous 47/48 - 1
6-160524832-C-T c.7050C>T p.S2350= Synonymous 47/48 - 1
6-160524833-T-A c.7051T>A p.Y2351N Missense 47/48 - 1
6-160524833-T-G c.7051T>G p.Y2351D Missense 47/48 - 1
6-160524835-C-A c.7053C>A p.Y2351* Nonsense 47/48 - 2
6-160524835-C-G c.7053C>G p.Y2351* Nonsense 47/48 - 1
6-160524835-C-T c.7053C>T p.Y2351= Synonymous 47/48 - 1
6-160524838-A-G c.7056A>G p.K2352= Synonymous 47/48 - 1
6-160524843-C-A c.7061C>A p.S2354* Nonsense 47/48 - 1
6-160524843-C-G c.7061C>G p.S2354* Nonsense 47/48 - 1
6-160524844-A-C c.7062A>C p.S2354= Synonymous 47/48 - 1
6-160524844-A-G c.7062A>G p.S2354= Synonymous 47/48 - 1
6-160524844-A-T c.7062A>T p.S2354= Synonymous 47/48 - 1
6-160524849-T-C c.7065+2T>C - IntronicSNV - 47/47 2
6-160524887-C-T c.7065+40C>T - IntronicSNV - 47/47 1
6-160524915-G-A c.7065+68G>A - IntronicSNV - 47/47 1
6-160525708-G-A c.7068G>A p.V2356= Synonymous 48/48 - 2
6-160525708-G-C c.7068G>C p.V2356= Synonymous 48/48 - 1
6-160525708-G-T c.7068G>T p.V2356= Synonymous 48/48 - 1
6-160525714-G-C c.7074G>C p.K2358N Missense 48/48 - 2
6-160525714-G-T c.7074G>T p.K2358N Missense 48/48 - 2
6-160525715-G-A c.7075G>A p.E2359K Missense 48/48 - 1
6-160525717-A-C c.7077A>C p.E2359D Missense 48/48 - 1
6-160525717-A-T c.7077A>T p.E2359D Missense 48/48 - 1
6-160525718-G-A c.7078G>A p.E2360K Missense 48/48 - 1
6-160525725-C-G c.7085C>G p.T2362R Missense 48/48 - 1
6-160525726-A-C c.7086A>C p.T2362= Synonymous 48/48 - 1
6-160525726-A-G c.7086A>G p.T2362= Synonymous 48/48 - 1
6-160525726-A-T c.7086A>T p.T2362= Synonymous 48/48 - 1
6-160525740-C-A c.7100C>A p.T2367K Missense 48/48 - 1
6-160525740-C-T c.7100C>T p.T2367I Missense 48/48 - 1
6-160525746-G-A c.7106G>A p.W2369* Nonsense 48/48 - 1
6-160525748-CTG-GAC c.7108_7110delinsGAC p.L2370D Missense 48/48 - 1
6-160525748-C-T c.7108C>T p.L2370= Synonymous 48/48 - 1
6-160525750-G-A c.7110G>A p.L2370= Synonymous 48/48 - 1
6-160525750-G-C c.7110G>C p.L2370= Synonymous 48/48 - 1
6-160525750-G-T c.7110G>T p.L2370= Synonymous 48/48 - 1
6-160525751-A-G c.7111A>G p.M2371V Missense 48/48 - 1
6-160525751-ATG-GAC c.7111_7113delinsGAC p.M2371D Missense 48/48 - 1
6-160525770-C-T c.7130C>T p.P2377L Missense 48/48 - 1
6-160525775-C-T c.7135C>T p.P2379S Missense 48/48 - 1
6-160525776-C-T c.7136C>T p.P2379L Missense 48/48 - 4
6-160525778-C-A c.7138C>A p.R2380= Synonymous 48/48 - 1
6-160525780-G-A c.7140G>A p.R2380= Synonymous 48/48 - 1
6-160525780-G-C c.7140G>C p.R2380= Synonymous 48/48 - 1
6-160525780-G-T c.7140G>T p.R2380= Synonymous 48/48 - 1
6-160525779-G-A c.7139G>A p.R2380Q Missense 48/48 - 1
6-160525790-G-A c.7150G>A p.E2384K Missense 48/48 - 1
6-160525794-G-C c.7154G>C p.G2385A Missense 48/48 - 1
6-160525804-C-T c.7164C>T p.N2388= Synonymous 48/48 - 2
6-160525805-G-A c.7165G>A p.G2389S Missense 48/48 - 2
6-160525815-C-A c.7175C>A p.T2392N Missense 48/48 - 1
6-160525818-C-T c.7178C>T p.T2393I Missense 48/48 - 1
6-160525821-A-T c.7181A>T p.K2394M Missense 48/48 - 2
6-160525822-G-A c.7182G>A p.K2394= Synonymous 48/48 - 1
6-160525823-T-G c.7183T>G p.S2395A Missense 48/48 - 1
6-160525832-G-T c.7192G>T p.A2398S Missense 48/48 - 1
6-160525833-C-T c.7193C>T p.A2398V Missense 48/48 - 7
6-160525834-C-T c.7194C>T p.A2398= Synonymous 48/48 - 1
6-160525835-C-T c.7195C>T p.L2399F Missense 48/48 - 1
6-160525839-G-A c.7199G>A p.S2400N Missense 48/48 - 1
6-160525842-C-T c.7202C>T p.S2401F Missense 48/48 - 2
6-160525844-C-T c.7204C>T p.L2402= Synonymous 48/48 - 1
6-160525851-G-A c.7211G>A p.G2404E Missense 48/48 - 1
6-160525861-G-C c.7221G>C p.Q2407H Missense 48/48 - 1
6-160525861-G-T c.7221G>T p.Q2407H Missense 48/48 - 1
6-160525862-G-A c.7222G>A p.D2408N Missense 48/48 - 1
6-160525867-T-C c.7227T>C p.S2409= Synonymous 48/48 - 1
6-160525869-A-G c.7229A>G p.E2410G Missense 48/48 - 1
6-160525876-G-A c.7236G>A p.E2412= Synonymous 48/48 - 2
6-160525884-C-T c.7244C>T p.T2415I Missense 48/48 - 1
6-160525887-T-C c.7247T>C p.I2416T Missense 48/48 - 1
6-160525893-A-G c.7253A>G p.E2418G Missense 48/48 - 1
6-160525896-T-A c.7256T>A p.V2419E Missense 48/48 - 1
6-160525899-A-G c.7259A>G p.K2420R Missense 48/48 - 1
6-160525904-C-T c.7264C>T p.H2422Y Missense 48/48 - 4
6-160525905-A-G c.7265A>G p.H2422R Missense 48/48 - 1
6-160525908-C-T c.7268C>T p.S2423L Missense 48/48 - 1
6-160525909-G-A c.7269G>A p.S2423= Synonymous 48/48 - 2
6-160525909-G-C c.7269G>C p.S2423= Synonymous 48/48 - 2
6-160525909-G-T c.7269G>T p.S2423= Synonymous 48/48 - 3
6-160525908-C-CG c.7271dup p.R2425Qfs*23 Frameshift 48/48 - 1
6-160525911-G-A c.7271G>A p.G2424D Missense 48/48 - 1
6-160525913-AG-CA c.7273_7274delinsCA p.R2425Q Missense 48/48 - 1
6-160525914-G-T c.7274G>T p.R2425M Missense 48/48 - 1
6-160525913-AG-A c.7277del p.G2426Efs*10 Frameshift 48/48 - 2
6-160525917-G-T c.7277G>T p.G2426V Missense 48/48 - 1
6-160525923-G-A c.7283G>A p.G2428E Missense 48/48 - 2
6-160525925-G-C c.7285G>C p.A2429P Missense 48/48 - 1
6-160525929-A-T c.7289A>T p.E2430V Missense 48/48 - 2
6-160525931-A-T c.7291A>T p.S2431C Missense 48/48 - 1
6-160525940-C-A c.7300C>A p.P2434T Missense 48/48 - 1
6-160525947-G-A c.7307G>A p.R2436K Missense 48/48 - 1
6-160525950-A-G c.7310A>G p.N2437S Missense 48/48 - 1
6-160525952-G-A c.7312G>A p.A2438T Missense 48/48 - 1
6-160525953-C-G c.7313C>G p.A2438G Missense 48/48 - 1
6-160525953-C-T c.7313C>T p.A2438V Missense 48/48 - 1
6-160525962-A-G c.7322A>G p.N2441S Missense 48/48 - 1
6-160525964-G-C c.7324G>C p.A2442P Missense 48/48 - 1
6-160525970-C-T c.7330C>T p.Q2444* Nonsense 48/48 - 3
6-160525975-G-C c.7335G>C p.E2445D Missense 48/48 - 1
6-160525975-G-T c.7335G>T p.E2445D Missense 48/48 - 1
6-160525976-C-T c.7336C>T p.R2446C Missense 48/48 - 1
6-160525977-G-A c.7337G>A p.R2446H Missense 48/48 - 2
6-160525978-T-G c.7338T>G p.R2446= Synonymous 48/48 - 2
6-160525981-G-C c.7341G>C p.E2447D Missense 48/48 - 1
6-160525981-G-T c.7341G>T p.E2447D Missense 48/48 - 1
6-160525984-C-T c.7344C>T p.D2448= Synonymous 48/48 - 2
6-160525985-G-A c.7345G>A p.D2449N Missense 48/48 - 2
6-160525993-G-A c.7353G>A p.V2451= Synonymous 48/48 - 1
6-160525995-G-A c.7355G>A p.G2452E Missense 48/48 - 1
6-160525997-C-T c.7357C>T p.L2453= Synonymous 48/48 - 1
6-160525999-G-A c.7359G>A p.L2453= Synonymous 48/48 - 1
6-160525999-G-C c.7359G>C p.L2453= Synonymous 48/48 - 1
6-160525999-G-T c.7359G>T p.L2453= Synonymous 48/48 - 1
6-160526000-G-C c.7360G>C p.V2454L Missense 48/48 - 1
6-160526002-C-A c.7362C>A p.V2454= Synonymous 48/48 - 1
6-160526002-C-G c.7362C>G p.V2454= Synonymous 48/48 - 1
6-160526002-C-T c.7362C>T p.V2454= Synonymous 48/48 - 1
6-160526005-G-A c.7365G>A p.R2455= Synonymous 48/48 - 1
6-160526009-G-T c.7369G>T p.E2457* Nonsense 48/48 - 1
6-160526012-A-T c.7372A>T p.K2458* Nonsense 48/48 - 3
6-160526014-G-A c.7374G>A p.K2458= Synonymous 48/48 - 1
6-160526014-G-T c.7374G>T p.K2458N Missense 48/48 - 1
6-160526016-C-A c.7376C>A p.A2459E Missense 48/48 - 2
6-160526016-C-T c.7376C>T p.A2459V Missense 48/48 - 8
6-160526017-G-A c.7377G>A p.A2459= Synonymous 48/48 - 1
6-160526023-AG-A c.7386del p.K2463Sfs*10 Frameshift 48/48 - 1
6-160526026-G-GT c.7386_7387insT p.K2463* Nonsense 48/48 - 1
6-160526027-A-G c.7387A>G p.K2463E Missense 48/48 - 1
6-160526026-GA-G c.7388del p.K2463Sfs*10 Frameshift 48/48 - 1
6-160526028-A-G c.7388A>G p.K2463R Missense 48/48 - 1
6-160526033-A-G c.7393A>G p.S2465G Missense 48/48 - 1
6-160526034-G-C c.7394G>C p.S2465T Missense 48/48 - 6
6-160526037-C-A c.7397C>A p.S2466Y Missense 48/48 - 1
6-160526044-G-T c.7404G>T p.Q2468H Missense 48/48 - 1
6-160526045-C-T c.7405C>T p.Q2469* Nonsense 48/48 - 3
6-160526046-A-G c.7406A>G p.Q2469R Missense 48/48 - 1
6-160526049-A-G c.7409A>G p.K2470R Missense 48/48 - 1
6-160526053-A-C c.7413A>C p.T2471= Synonymous 48/48 - 1
6-160526053-A-G c.7413A>G p.T2471= Synonymous 48/48 - 1
6-160526053-A-T c.7413A>T p.T2471= Synonymous 48/48 - 1
6-160526054-G-T c.7414G>T p.V2472L Missense 48/48 - 1
6-160526057-A-T c.7417A>T p.S2473C Missense 48/48 - 1
6-160526058-G-A c.7418G>A p.S2473N Missense 48/48 - 1
6-160526060-T-C c.7420T>C p.S2474P Missense 48/48 - 2
6-160526063-A-T c.7423A>T p.T2475S Missense 48/48 - 1
6-160526064-C-T c.7424C>T p.T2475I Missense 48/48 - 4
6-160526069-CTGGTGTCCTTCCA-C c.7432_7444del p.V2478Tfs*55 Frameshift 48/48 - 1
6-160526076-C-T c.7436C>T p.S2479F Missense 48/48 - 3
6-160526081-C-A c.7441C>A p.H2481N Missense 48/48 - 1
6-160526082-A-G c.7442A>G p.H2481R Missense 48/48 - 1
6-160526085-A-T c.7445A>T p.D2482V Missense 48/48 - 1
6-160526086-C-G c.7446C>G p.D2482E Missense 48/48 - 2
6-160526086-C-T c.7446C>T p.D2482= Synonymous 48/48 - 3
6-160526089-C-G c.7449C>G p.D2483E Missense 48/48 - 1
6-160526092-C-T c.7452C>T p.S2484= Synonymous 48/48 - 3
6-160526093-G-A c.7453G>A p.D2485N Missense 48/48 - 1
6-160526094-A-G c.7454A>G p.D2485G Missense 48/48 - 2
6-160526095-C-T c.7455C>T p.D2485= Synonymous 48/48 - 1
6-160526098-G-T c.7458G>T p.E2486D Missense 48/48 - 1
6-160526107-A-C c.7467A>C p.L2489F Missense 48/48 - 1
6-160526107-A-T c.7467A>T p.L2489F Missense 48/48 - 1
6-160526108-C-A c.7468C>A p.H2490N Missense 48/48 - 1
6-160526111-A-G c.7471A>G p.I2491V Missense 48/48 - 2
6-160526175-A-G c.*59A>G - 3-UTRSNV 48/48 - 1
6-160526538-G-A c.*422G>A - 3-UTRSNV 48/48 - 1
6-160526638-G-A c.*522G>A - 3-UTRSNV 48/48 - 1
6-160527180-C-A c.*1064C>A - 3-UTRSNV 48/48 - 1
6-160527180-C-T c.*1064C>T - 3-UTRSNV 48/48 - 1
6-160528057-T-C c.*1941T>C - IntergenicSNV 48/48 - 2
6-160529808-G-A c.*3692G>A - IntergenicSNV 48/48 - 1
6-160530626-T-C c.*4510T>C - IntergenicSNV 48/48 - 1
6-160532335-C-T c.*6219C>T - IntergenicSNV 48/48 - 1