HFE

HFE homeostatic iron regulator

Annotation transcript: NM_000410.4

617 unique variant annotations were identified in 835 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
6-26087670-T-A c.2T>A p.M1? Missense 1/6 - 1
6-26087670-T-G c.2T>G p.M1? Missense 1/6 - 2
6-26087672-G-A c.4G>A p.G2S Missense 1/6 - 1
6-26087673-G-T c.5G>T p.G2V Missense 1/6 - 1
6-26087676-C-A c.8C>A p.P3Q Missense 1/6 - 1
6-26087676-C-T c.8C>T p.P3L Missense 1/6 - 2
6-26087678-C-G c.10C>G p.R4G Missense 1/6 - 1
6-26087681-G-T c.13G>T p.A5S Missense 1/6 - 1
6-26087682-C-T c.14C>T p.A5V Missense 1/6 - 1
6-26087683-C-CT c.15_16insT p.R6* Nonsense 1/6 - 1
6-26087686-G-C c.18G>C p.R6S Missense 1/6 - 9
6-26087686-G-T c.18G>T p.R6S Missense 1/6 - 5
6-26087690-G-A c.22G>A p.A8T Missense 1/6 - 1
6-26087690-G-C c.22G>C p.A8P Missense 1/6 - 1
6-26087691-C-T c.23C>T p.A8V Missense 1/6 - 3
6-26087697-T-A c.29T>A p.L10H Missense 1/6 - 5
6-26087697-T-C c.29T>C p.L10P Missense 1/6 - 2
6-26087698-C-A c.30C>A p.L10= Synonymous 1/6 - 1
6-26087698-C-G c.30C>G p.L10= Synonymous 1/6 - 1
6-26087698-C-T c.30C>T p.L10= Synonymous 1/6 - 1
6-26087701-C-T c.33C>T p.L11= Synonymous 1/6 - 1
6-26087702-C-T c.34C>T p.L12= Synonymous 1/6 - 2
6-26087708-C-T c.40C>T p.L14F Missense 1/6 - 1
6-26087715-A-G c.47A>G p.Q16R Missense 1/6 - 1
6-26087718-C-T c.50C>T p.T17I Missense 1/6 - 6
6-26087720-G-A c.52G>A p.A18T Missense 1/6 - 1
6-26087720-GC-AA c.52_53delinsAA p.A18K Missense 1/6 - 5
6-26087720-GCG-TGT c.52_54delinsTGT p.A18C Missense 1/6 - 1
6-26087727-T-C c.59T>C p.L20P Missense 1/6 - 1
6-26087731-G-C c.63G>C p.Q21H Missense 1/6 - 1
6-26087732-G-A c.64G>A p.G22R Missense 1/6 - 1
6-26087732-G-C c.64G>C p.G22R Missense 1/6 - 1
6-26087732-GGG-AAC c.64_66delinsAAC p.G22N Missense 1/6 - 1
6-26087734-G-A c.66G>A p.G22= Synonymous 1/6 - 1
6-26087735-C-G c.67C>G p.R23G Missense 1/6 - 1
6-26087735-C-T c.67C>T p.R23C Missense 1/6 - 2
6-26087733-GGC-G c.68_69del p.R23Lfs*25 Frameshift 1/6 - 1
6-26087736-G-A c.68G>A p.R23H Missense 1/6 - 2
6-26087746-T-C c.76+2T>C - IntronicSNV - 1/5 1
6-26087856-T-A c.76+112T>A - IntronicSNV - 1/5 6
6-26088407-A-G c.76+663A>G - IntronicSNV - 1/5 1
6-26088890-T-C c.76+1146T>C - IntronicSNV - 1/5 5
6-26088890-T-G c.76+1146T>G - IntronicSNV - 1/5 5
6-26089098-C-T c.76+1354C>T - IntronicSNV - 1/5 6
6-26090025-T-C c.77-1044T>C - IntronicSNV - 1/5 1
6-26090381-C-G c.77-688C>G - IntronicSNV - 1/5 1
6-26090452-T-C c.77-617T>C - IntronicSNV - 1/5 1
6-26091070-T-A c.78T>A p.R26= Synonymous 2/6 - 1
6-26091070-T-C c.78T>C p.R26= Synonymous 2/6 - 1
6-26091070-T-G c.78T>G p.R26= Synonymous 2/6 - 1
6-26091071-T-G c.79T>G p.S27A Missense 2/6 - 1
6-26091072-C-T c.80C>T p.S27L Missense 2/6 - 2
6-26091078-C-G c.86C>G p.S29C Missense 2/6 - 1
6-26091080-C-A c.88C>A p.L30M Missense 2/6 - 1
6-26091080-CTG-GAC c.88_90delinsGAC p.L30D Missense 2/6 - 1
6-26091081-T-A c.89T>A p.L30Q Missense 2/6 - 1
6-26091080-C-T c.88C>T p.L30= Synonymous 2/6 - 1
6-26091082-G-A c.90G>A p.L30= Synonymous 2/6 - 1
6-26091082-G-C c.90G>C p.L30= Synonymous 2/6 - 1
6-26091082-G-T c.90G>T p.L30= Synonymous 2/6 - 1
6-26091083-C-G c.91C>G p.H31D Missense 2/6 - 1
6-26091088-C-A c.96C>A p.Y32* Nonsense 2/6 - 1
6-26091090-T-C c.98T>C p.L33P Missense 2/6 - 1
6-26091097-G-A c.105G>A p.M35I Missense 2/6 - 2
6-26091097-G-C c.105G>C p.M35I Missense 2/6 - 1
6-26091097-G-T c.105G>T p.M35I Missense 2/6 - 1
6-26091095-ATGGG-A c.106_109del p.G36Pfs*51 Frameshift 2/6 - 2
6-26091098-G-T c.106G>T p.G36C Missense 2/6 - 2
6-26091101-G-A c.109G>A p.A37T Missense 2/6 - 4
6-26091101-GC-TG c.109_110delinsTG p.A37C Missense 2/6 - 1
6-26091106-A-G c.114A>G p.S38= Synonymous 2/6 - 2
6-26091108-A-C c.116A>C p.E39A Missense 2/6 - 1
6-26091110-C-G c.118C>G p.Q40E Missense 2/6 - 4
6-26091113-G-A c.121G>A p.D41N Missense 2/6 - 1
6-26091114-A-C c.122A>C p.D41A Missense 2/6 - 1
6-26091117-T-G c.125T>G p.L42R Missense 2/6 - 1
6-26091120-G-A c.128G>A p.G43D Missense 2/6 - 6
6-26091120-G-C c.128G>C p.G43A Missense 2/6 - 1
6-26091121-T-A c.129T>A p.G43= Synonymous 2/6 - 1
6-26091121-T-C c.129T>C p.G43= Synonymous 2/6 - 2
6-26091121-T-G c.129T>G p.G43= Synonymous 2/6 - 1
6-26091129-T-G c.137T>G p.L46W Missense 2/6 - 2
6-26091134-G-A c.142G>A p.E48K Missense 2/6 - 2
6-26091138-C-T c.146C>T p.A49V Missense 2/6 - 1
6-26091143-G-A c.151G>A p.G51S Missense 2/6 - 1
6-26091143-G-T c.151G>T p.G51C Missense 2/6 - 6
6-26091144-GC-AG c.152_153delinsAG p.G51E Missense 2/6 - 1
6-26091145-C-T c.153C>T p.G51= Synonymous 2/6 - 1
6-26091148-C-T c.156C>T p.Y52= Synonymous 2/6 - 1
6-26091149-G-A c.157G>A p.V53M Missense 2/6 - 21
6-26091153-A-G c.161A>G p.D54G Missense 2/6 - 1
6-26091158-C-G c.166C>G p.Q56E Missense 2/6 - 1
6-26091161-C-A c.169C>A p.L57M Missense 2/6 - 1
6-26091163-G-A c.171G>A p.L57= Synonymous 2/6 - 1
6-26091167-G-A c.175G>A p.V59M Missense 2/6 - 16
6-26091176-G-A c.184G>A p.D62N Missense 2/6 - 1
6-26091178-T-G c.186T>G p.D62E Missense 2/6 - 1
6-26091179-CA-GC c.187_188delinsGC p.H63A Missense 2/6 - 4
6-26091179-CA-TT c.187_188delinsTT p.H63F Missense 2/6 - 1
6-26091179-C-G c.187C>G p.H63D Missense 2/6 - 1007
6-26091179-C-T c.187C>T p.H63Y Missense 2/6 - 129
6-26091181-T-C c.189T>C p.H63= Synonymous 2/6 - 18
6-26091184-G-C c.192G>C p.E64D Missense 2/6 - 1
6-26091184-G-T c.192G>T p.E64D Missense 2/6 - 1
6-26091185-AG-CT c.193_194inv p.S65L Missense 2/6 - 1
6-26091185-AG-GA c.193_194delinsGA p.S65D Missense 2/6 - 5
6-26091185-A-T c.193A>T p.S65C Missense 2/6 - 187
6-26091186-G-A c.194G>A p.S65N Missense 2/6 - 1
6-26091187-T-C c.195T>C p.S65= Synonymous 2/6 - 1
6-26091188-C-T c.196C>T p.R66C Missense 2/6 - 10
6-26091189-G-A c.197G>A p.R66H Missense 2/6 - 2
6-26091191-C-T c.199C>T p.R67C Missense 2/6 - 3
6-26091192-G-A c.200G>A p.R67H Missense 2/6 - 1
6-26091192-G-T c.200G>T p.R67L Missense 2/6 - 4
6-26091194-G-A c.202G>A p.V68M Missense 2/6 - 1
6-26091198-A-T c.206A>T p.E69V Missense 2/6 - 2
6-26091202-C-T c.210C>T p.P70= Synonymous 2/6 - 1
6-26091203-CGA-TGT c.211_213delinsTGT p.R71C Missense 2/6 - 1
6-26091203-C-T c.211C>T p.R71* Nonsense 2/6 - 6
6-26091204-G-A c.212G>A p.R71Q Missense 2/6 - 9
6-26091204-G-T c.212G>T p.R71L Missense 2/6 - 1
6-26091206-A-G c.214A>G p.T72A Missense 2/6 - 3
6-26091209-C-A c.217C>A p.P73T Missense 2/6 - 1
6-26091210-C-T c.218C>T p.P73L Missense 2/6 - 3
6-26091212-T-C c.220T>C p.W74R Missense 2/6 - 1
6-26091213-G-T c.221G>T p.W74L Missense 2/6 - 1
6-26091215-G-A c.223G>A p.V75I Missense 2/6 - 3
6-26091219-C-T c.227C>T p.S76F Missense 2/6 - 5
6-26091224-AGA-CAT c.232_234delinsCAT p.R78H Missense 2/6 - 1
6-26091228-T-A c.236T>A p.I79N Missense 2/6 - 2
6-26091228-T-G c.236T>G p.I79S Missense 2/6 - 1
6-26091231-C-A c.239C>A p.S80* Nonsense 2/6 - 1
6-26091232-A-C c.240A>C p.S80= Synonymous 2/6 - 1
6-26091232-A-G c.240A>G p.S80= Synonymous 2/6 - 1
6-26091232-A-T c.240A>T p.S80= Synonymous 2/6 - 1
6-26091236-C-G c.244C>G p.Q82E Missense 2/6 - 1
6-26091239-A-C c.247A>C p.M83L Missense 2/6 - 1
6-26091239-A-G c.247A>G p.M83V Missense 2/6 - 1
6-26091240-T-C c.248T>C p.M83T Missense 2/6 - 1
6-26091241-G-A c.249G>A p.M83I Missense 2/6 - 2
6-26091241-G-C c.249G>C p.M83I Missense 2/6 - 2
6-26091241-G-T c.249G>T p.M83I Missense 2/6 - 2
6-26091253-G-A c.261G>A p.L87= Synonymous 2/6 - 2
6-26091254-A-T c.262A>T p.S88C Missense 2/6 - 1
6-26091255-G-C c.263G>C p.S88T Missense 2/6 - 1
6-26091261-G-A c.269G>A p.S90N Missense 2/6 - 1
6-26091263-C-A c.271C>A p.L91M Missense 2/6 - 1
6-26091268-A-C c.276A>C p.K92N Missense 2/6 - 1
6-26091268-A-T c.276A>T p.K92N Missense 2/6 - 1
6-26091269-G-A c.277G>A p.G93R Missense 2/6 - 10
6-26091269-G-C c.277G>C p.G93R Missense 2/6 - 16
6-26091269-GGG-TGT c.277_279delinsTGT p.G93C Missense 2/6 - 1
6-26091270-G-C c.278G>C p.G93A Missense 2/6 - 18
6-26091270-GG-AC c.278_279delinsAC p.G93D Missense 2/6 - 3
6-26091270-G-T c.278G>T p.G93V Missense 2/6 - 1
6-26091268-AG-A c.279del p.W94Gfs*117 Frameshift 2/6 - 1
6-26091273-G-A c.281G>A p.W94* Nonsense 2/6 - 1
6-26091273-G-T c.281G>T p.W94L Missense 2/6 - 1
6-26091274-G-A c.282G>A p.W94* Nonsense 2/6 - 1
6-26091275-G-A c.283G>A p.D95N Missense 2/6 - 2
6-26091278-C-T c.286C>T p.H96Y Missense 2/6 - 2
6-26091280-C-T c.288C>T p.H96= Synonymous 2/6 - 2
6-26091281-A-C c.289A>C p.M97L Missense 2/6 - 1
6-26091284-T-C c.292T>C p.F98L Missense 2/6 - 1
6-26091286-C-G c.294C>G p.F98L Missense 2/6 - 1
6-26091286-C-A c.294C>A p.F98L Missense 2/6 - 2
6-26091288-C-A c.296C>A p.T99N Missense 2/6 - 1
6-26091290-G-A c.298G>A p.V100I Missense 2/6 - 1
6-26091291-T-C c.299T>C p.V100A Missense 2/6 - 3
6-26091293-G-A c.301G>A p.D101N Missense 2/6 - 1
6-26091294-A-G c.302A>G p.D101G Missense 2/6 - 1
6-26091297-TC-GG c.305_306delinsGG p.F102W Missense 2/6 - 1
6-26091298-C-T c.306C>T p.F102= Synonymous 2/6 - 1
6-26091302-A-T c.310A>T p.T104S Missense 2/6 - 1
6-26091305-A-G c.313A>G p.I105V Missense 2/6 - 1
6-26091306-T-C c.314T>C p.I105T Missense 2/6 - 16
6-26091309-T-G c.317T>G p.M106R Missense 2/6 - 3
6-26091310-G-T c.318G>T p.M106I Missense 2/6 - 4
6-26091311-GA-AG c.319_320delinsAG p.E107R Missense 2/6 - 2
6-26091311-G-T c.319G>T p.E107* Nonsense 2/6 - 1
6-26091312-A-G c.320A>G p.E107G Missense 2/6 - 2
6-26091323-C-A c.331C>A p.H111N Missense 2/6 - 2
6-26091327-G-A c.335G>A p.S112N Missense 2/6 - 1
6-26091327-G-T c.335G>T p.S112I Missense 2/6 - 1
6-26091328-C-A c.336C>A p.S112R Missense 2/6 - 1
6-26091331-G-A c.339G>A p.K113= Synonymous 2/6 - 1
6-26091332-G-A c.340G>A p.E114K Missense 2/6 - 2
6-26091332-G-C c.340G>C p.E114Q Missense 2/6 - 1
6-26091330-A-AG c.340+1dup - SpliceDonorInsertion - 2/5 1
6-26091333-G-A c.340+1G>A - IntronicSNV - 2/5 2
6-26091336-T-C c.340+4T>C - IntronicSNV - 2/5 38
6-26091544-GT-G c.343del p.S115Pfs*96 Frameshift 3/6 - 1
6-26091545-C-T c.344C>T p.S115F Missense 3/6 - 2
6-26091546-C-G c.345C>G p.S115= Synonymous 3/6 - 1
6-26091546-C-T c.345C>T p.S115= Synonymous 3/6 - 1
6-26091547-C-A c.346C>A p.H116N Missense 3/6 - 1
6-26091550-A-G c.349A>G p.T117A Missense 3/6 - 2
6-26091551-C-T c.350C>T p.T117I Missense 3/6 - 1
6-26091552-C-A c.351C>A p.T117= Synonymous 3/6 - 1
6-26091552-C-G c.351C>G p.T117= Synonymous 3/6 - 1
6-26091552-C-T c.351C>T p.T117= Synonymous 3/6 - 1
6-26091556-C-A c.355C>A p.Q119K Missense 3/6 - 1
6-26091556-C-G c.355C>G p.Q119E Missense 3/6 - 1
6-26091565-C-A c.364C>A p.L122M Missense 3/6 - 1
6-26091571-T-A c.370T>A p.C124S Missense 3/6 - 1
6-26091572-G-C c.371G>C p.C124S Missense 3/6 - 1
6-26091572-G-A c.371G>A p.C124Y Missense 3/6 - 2
6-26091574-G-A c.373G>A p.E125K Missense 3/6 - 1
6-26091574-G-C c.373G>C p.E125Q Missense 3/6 - 1
6-26091577-A-G c.376A>G p.M126V Missense 3/6 - 1
6-26091582-A-C c.381A>C p.Q127H Missense 3/6 - 16
6-26091582-A-G c.381A>G p.Q127Q UnclassifiedSNV 3/6 - 3
6-26091582-A-T c.381A>T p.Q127H Missense 3/6 - 11
6-26091583-GA-AG c.382_383delinsAG p.E128R Missense 3/6 - 1
6-26091583-G-C c.382G>C p.E128Q Missense 3/6 - 1
6-26091585-A-C c.384A>C p.E128D Missense 3/6 - 1
6-26091585-A-T c.384A>T p.E128D Missense 3/6 - 1
6-26091586-G-A c.385G>A p.D129N Missense 3/6 - 3
6-26091587-A-G c.386A>G p.D129G Missense 3/6 - 3
6-26091591-C-T c.390C>T p.N130= Synonymous 3/6 - 3
6-26091594-T-A c.393T>A p.S131R Missense 3/6 - 1
6-26091598-G-A c.397G>A p.E133K Missense 3/6 - 2
6-26091601-G-C c.400G>C p.G134R Missense 3/6 - 1
6-26091602-G-A c.401G>A p.G134D Missense 3/6 - 2
6-26091603-C-T c.402C>T p.G134= Synonymous 3/6 - 2
6-26091606-C-A c.405C>A p.Y135* Nonsense 3/6 - 5
6-26091606-C-G c.405C>G p.Y135* Nonsense 3/6 - 2
6-26091612-G-A c.411G>A p.K137= Synonymous 3/6 - 1
6-26091615-C-A c.414C>A p.Y138* Nonsense 3/6 - 2
6-26091615-C-G c.414C>G p.Y138* Nonsense 3/6 - 3
6-26091615-C-T c.414C>T p.Y138= Synonymous 3/6 - 2
6-26091616-G-A c.415G>A p.G139R Missense 3/6 - 2
6-26091616-G-C c.415G>C p.G139R Missense 3/6 - 1
6-26091622-G-A c.421G>A p.D141N Missense 3/6 - 1
6-26091623-A-G c.422A>G p.D141G Missense 3/6 - 1
6-26091625-G-A c.424G>A p.G142R Missense 3/6 - 1
6-26091626-G-A c.425G>A p.G142E Missense 3/6 - 1
6-26091631-G-A c.430G>A p.D144N Missense 3/6 - 1
6-26091637-C-T c.436C>T p.L146F Missense 3/6 - 3
6-26091640-G-T c.439G>T p.E147* Nonsense 3/6 - 2
6-26091643-TT-GC c.442_443delinsGC p.F148A Missense 3/6 - 1
6-26091644-T-C c.443T>C p.F148S Missense 3/6 - 1
6-26091646-TG-AC c.445_446delinsAC p.C149T Missense 3/6 - 1
6-26091649-C-T c.448C>T p.P150S Missense 3/6 - 1
6-26091652-G-A c.451G>A p.D151N Missense 3/6 - 1
6-26091655-A-G c.454A>G p.T152A Missense 3/6 - 1
6-26091657-A-G c.456A>G p.T152= Synonymous 3/6 - 1
6-26091659-T-C c.458T>C p.L153P Missense 3/6 - 1
6-26091658-C-T c.457C>T p.L153= Synonymous 3/6 - 2
6-26091660-G-A c.459G>A p.L153= Synonymous 3/6 - 2
6-26091660-G-C c.459G>C p.L153= Synonymous 3/6 - 2
6-26091660-G-T c.459G>T p.L153= Synonymous 3/6 - 2
6-26091661-G-A c.460G>A p.D154N Missense 3/6 - 1
6-26091667-AGA-CAT c.466_468delinsCAT p.R156H Missense 3/6 - 2
6-26091667-AGA-TGT c.466_468delinsTGT p.R156C Missense 3/6 - 2
6-26091667-AG-CC c.466_467delinsCC p.R156P Missense 3/6 - 1
6-26091669-A-C c.468A>C p.R156S Missense 3/6 - 1
6-26091669-A-T c.468A>T p.R156S Missense 3/6 - 1
6-26091670-G-A c.469G>A p.A157T Missense 3/6 - 1
6-26091672-CA-C c.471del p.A158Qfs*53 Frameshift 3/6 - 1
6-26091679-C-A c.478C>A p.P160T Missense 3/6 - 1
6-26091679-C-T c.478C>T p.P160S Missense 3/6 - 1
6-26091680-C-G c.479C>G p.P160R Missense 3/6 - 1
6-26091678-AC-A c.480del p.R161Gfs*50 Frameshift 3/6 - 1
6-26091685-G-A c.484G>A p.A162T Missense 3/6 - 1
6-26091687-C-T c.486C>T p.A162= Synonymous 3/6 - 1
6-26091688-T-C c.487T>C p.W163R Missense 3/6 - 1
6-26091691-C-G c.490C>G p.P164A Missense 3/6 - 1
6-26091691-C-T c.490C>T p.P164S Missense 3/6 - 1
6-26091694-A-G c.493A>G p.T165A Missense 3/6 - 1
6-26091698-A-G c.497A>G p.K166R Missense 3/6 - 2
6-26091701-TGGA-T c.502_504del p.E168del InFrameDeletion 3/6 - 1
6-26091703-G-C c.502G>C p.E168Q Missense 3/6 - 14
6-26091703-G-T c.502G>T p.E168* Nonsense 3/6 - 15
6-26091706-T-C c.505T>C p.W169R Missense 3/6 - 1
6-26091707-G-A c.506G>A p.W169* Nonsense 3/6 - 10
6-26091708-G-A c.507G>A p.W169* Nonsense 3/6 - 8
6-26091709-G-A c.508G>A p.E170K Missense 3/6 - 2
6-26091716-A-G c.515A>G p.H172R Missense 3/6 - 3
6-26091720-G-A c.519G>A p.K173= Synonymous 3/6 - 1
6-26091723-T-G c.522T>G p.I174M Missense 3/6 - 2
6-26091724-C-A c.523C>A p.R175= Synonymous 3/6 - 1
6-26091724-C-T c.523C>T p.R175W Missense 3/6 - 7
6-26091726-G-A c.525G>A p.R175= Synonymous 3/6 - 1
6-26091726-G-C c.525G>C p.R175= Synonymous 3/6 - 1
6-26091726-G-T c.525G>T p.R175= Synonymous 3/6 - 1
6-26091725-G-A c.524G>A p.R175Q Missense 3/6 - 1
6-26091727-G-A c.526G>A p.A176T Missense 3/6 - 1
6-26091728-C-T c.527C>T p.A176V Missense 3/6 - 4
6-26091730-AG-TA c.529_530delinsTA p.R177* Nonsense 3/6 - 1
6-26091733-C-T c.532C>T p.Q178* Nonsense 3/6 - 1
6-26091736-A-T c.535A>T p.N179Y Missense 3/6 - 1
6-26091740-G-A c.539G>A p.R180K Missense 3/6 - 1
6-26091739-A-C c.538A>C p.R180= Synonymous 3/6 - 1
6-26091741-G-A c.540G>A p.R180= Synonymous 3/6 - 2
6-26091742-G-T c.541G>T p.A181S Missense 3/6 - 2
6-26091743-C-T c.542C>T p.A181V Missense 3/6 - 1
6-26091744-C-T c.543C>T p.A181= Synonymous 3/6 - 2
6-26091745-T-C c.544T>C p.Y182H Missense 3/6 - 2
6-26091742-GCCTA-G c.545_548del p.Y182Wfs*28 Frameshift 3/6 - 1
6-26091746-A-G c.545A>G p.Y182C Missense 3/6 - 1
6-26091747-ACC-A c.546_547del p.L183Gfs*60 Frameshift 3/6 - 2
6-26091747-C-A c.546C>A p.Y182* Nonsense 3/6 - 1
6-26091749-T-C c.548T>C p.L183P Missense 3/6 - 4
6-26091748-C-T c.547C>T p.L183= Synonymous 3/6 - 2
6-26091750-G-A c.549G>A p.L183= Synonymous 3/6 - 2
6-26091750-G-C c.549G>C p.L183= Synonymous 3/6 - 2
6-26091750-G-T c.549G>T p.L183= Synonymous 3/6 - 2
6-26091751-G-A c.550G>A p.E184K Missense 3/6 - 1
6-26091754-A-G c.553A>G p.R185G Missense 3/6 - 1
6-26091760-T-G c.559T>G p.C187G Missense 3/6 - 12
6-26091763-C-A c.562C>A p.P188T Missense 3/6 - 1
6-26091764-C-T c.563C>T p.P188L Missense 3/6 - 1
6-26091769-C-T c.568C>T p.Q190* Nonsense 3/6 - 1
6-26091775-C-T c.574C>T p.Q192* Nonsense 3/6 - 2
6-26091776-A-G c.575A>G p.Q192R Missense 3/6 - 5
6-26091776-A-T c.575A>T p.Q192L Missense 3/6 - 3
6-26091782-T-C c.581T>C p.L194S Missense 3/6 - 1
6-26091787-G-A c.586G>A p.E196K Missense 3/6 - 1
6-26091788-A-G c.587A>G p.E196G Missense 3/6 - 1
6-26091789-G-C c.588G>C p.E196D Missense 3/6 - 1
6-26091789-G-T c.588G>T p.E196D Missense 3/6 - 1
6-26091790-C-A c.589C>A p.L197M Missense 3/6 - 1
6-26091790-C-T c.589C>T p.L197= Synonymous 3/6 - 2
6-26091792-G-A c.591G>A p.L197= Synonymous 3/6 - 2
6-26091792-G-C c.591G>C p.L197= Synonymous 3/6 - 2
6-26091792-G-T c.591G>T p.L197= Synonymous 3/6 - 2
6-26091793-G-A c.592G>A p.G198R Missense 3/6 - 1
6-26091793-G-C c.592G>C p.G198R Missense 3/6 - 1
6-26091795-G-A c.594G>A p.G198= Synonymous 3/6 - 2
6-26091796-AGA-CAT c.595_597delinsCAT p.R199H Missense 3/6 - 1
6-26091797-G-C c.596G>C p.R199T Missense 3/6 - 1
6-26091800-G-T c.599G>T p.G200V Missense 3/6 - 1
6-26091801-T-C c.600T>C p.G200= Synonymous 3/6 - 2
6-26091804-T-A c.603T>A p.V201= Synonymous 3/6 - 1
6-26091804-T-C c.603T>C p.V201= Synonymous 3/6 - 1
6-26091804-T-G c.603T>G p.V201= Synonymous 3/6 - 1
6-26091805-TT-CC c.604_605delinsCC p.L202P Missense 3/6 - 1
6-26091806-TG-T c.607del p.D203Tfs*8 Frameshift 3/6 - 1
6-26091808-G-A c.607G>A p.D203N Missense 3/6 - 1
6-26091808-G-T c.607G>T p.D203Y Missense 3/6 - 1
6-26091811-C-A c.610C>A p.Q204K Missense 3/6 - 2
6-26091812-A-G c.611A>G p.Q204R Missense 3/6 - 1
6-26091818-G-T c.616+1G>T - IntronicSNV - 3/5 2
6-26092170-G-T c.616+353G>T - IntronicSNV - 3/5 4
6-26092850-T-A c.617-63T>A - IntronicSNV - 3/5 1
6-26092855-G-A c.617-58G>A - IntronicSNV - 3/5 1
6-26092860-C-T c.617-53C>T - IntronicSNV - 3/5 1
6-26092865-C-G c.617-48C>G - IntronicSNV - 3/5 2
6-26092865-C-T c.617-48C>T - IntronicSNV - 3/5 2
6-26092869-G-A c.617-44G>A - IntronicSNV - 3/5 1
6-26092883-C-T c.617-30C>T - IntronicSNV - 3/5 1
6-26092914-G-A c.618G>A p.V206= Synonymous 4/6 - 1
6-26092916-C-T c.620C>T p.P207L Missense 4/6 - 8
6-26092918-C-T c.622C>T p.P208S Missense 4/6 - 2
6-26092919-C-A c.623C>A p.P208H Missense 4/6 - 1
6-26092919-C-T c.623C>T p.P208L Missense 4/6 - 2
6-26092921-T-C c.625T>C p.L209= Synonymous 4/6 - 2
6-26092923-G-A c.627G>A p.L209= Synonymous 4/6 - 1
6-26092925-T-C c.629T>C p.V210A Missense 4/6 - 1
6-26092925-T-G c.629T>G p.V210G Missense 4/6 - 1
6-26092931-T-C c.635T>C p.V212A Missense 4/6 - 1
6-26092931-T-G c.635T>G p.V212G Missense 4/6 - 1
6-26092933-A-G c.637A>G p.T213A Missense 4/6 - 2
6-26092936-C-T c.640C>T p.H214Y Missense 4/6 - 1
6-26092939-C-T c.643C>T p.H215Y Missense 4/6 - 3
6-26092942-G-A c.646G>A p.V216M Missense 4/6 - 1
6-26092943-T-C c.647T>C p.V216A Missense 4/6 - 3
6-26092945-A-G c.649A>G p.T217A Missense 4/6 - 2
6-26092946-C-T c.650C>T p.T217I Missense 4/6 - 2
6-26092948-TC-GA c.652_653inv p.S218D Missense 4/6 - 1
6-26092949-C-T c.653C>T p.S218F Missense 4/6 - 1
6-26092961-C-T c.665C>T p.T222I Missense 4/6 - 1
6-26092963-C-T c.667C>T p.L223= Synonymous 4/6 - 1
6-26092966-C-G c.670C>G p.R224G Missense 4/6 - 3
6-26092966-C-T c.670C>T p.R224W Missense 4/6 - 3
6-26092967-G-A c.671G>A p.R224Q Missense 4/6 - 3
6-26092968-G-A c.672G>A p.R224= Synonymous 4/6 - 1
6-26092970-G-A c.674G>A p.C225Y Missense 4/6 - 3
6-26092972-C-G c.676C>G p.R226G Missense 4/6 - 2
6-26092972-C-T c.676C>T p.R226W Missense 4/6 - 2
6-26092973-G-A c.677G>A p.R226Q Missense 4/6 - 3
6-26092979-T-C c.683T>C p.L228S Missense 4/6 - 1
6-26092980-G-C c.684G>C p.L228F Missense 4/6 - 2
6-26092980-G-T c.684G>T p.L228F Missense 4/6 - 4
6-26092985-A-T c.689A>T p.Y230F Missense 4/6 - 1
6-26092986-C-T c.690C>T p.Y230= Synonymous 4/6 - 3
6-26092981-AACT-A c.691_693del p.Y231del InFrameDeletion 4/6 - 6
6-26092988-A-G c.692A>G p.Y231C Missense 4/6 - 1
6-26092989-C-A c.693C>A p.Y231* Nonsense 4/6 - 1
6-26092989-C-G c.693C>G p.Y231* Nonsense 4/6 - 1
6-26092990-CCC-ATG c.694_696delinsATG p.P232M Missense 4/6 - 1
6-26092990-CC-TT c.694_695delinsTT p.P232F Missense 4/6 - 1
6-26092992-C-A c.696C>A p.P232= Synonymous 4/6 - 1
6-26092992-C-G c.696C>G p.P232= Synonymous 4/6 - 1
6-26092992-C-T c.696C>T p.P232= Synonymous 4/6 - 1
6-26092988-AC-A c.697del p.Q233Rfs*5 Frameshift 4/6 - 1
6-26092993-C-A c.697C>A p.Q233K Missense 4/6 - 1
6-26092993-C-T c.697C>T p.Q233* Nonsense 4/6 - 3
6-26092994-A-G c.698A>G p.Q233R Missense 4/6 - 1
6-26092995-G-C c.699G>C p.Q233H Missense 4/6 - 2
6-26092995-G-T c.699G>T p.Q233H Missense 4/6 - 4
6-26092995-GAAC-G c.701_703del p.N234del InFrameDeletion 4/6 - 1
6-26092996-A-AACTACTACTAAGCC c.702_703insTACTACTAAGCCAC p.I235Yfs*3 Frameshift 4/6 - 1
6-26092998-C-A c.702C>A p.N234K Missense 4/6 - 1
6-26092998-C-G c.702C>G p.N234K Missense 4/6 - 1
6-26093003-C-G c.707C>G p.T236S Missense 4/6 - 1
6-26093004-C-T c.708C>T p.T236= Synonymous 4/6 - 1
6-26093006-T-A c.710T>A p.M237K Missense 4/6 - 1
6-26093008-A-T c.712A>T p.K238* Nonsense 4/6 - 2
6-26093009-AGTG-A c.715_717del p.W239del InFrameDeletion 4/6 - 1
6-26093011-T-C c.715T>C p.W239R Missense 4/6 - 1
6-26093012-G-A c.716G>A p.W239* Nonsense 4/6 - 3
6-26093013-G-A c.717G>A p.W239* Nonsense 4/6 - 2
6-26093013-G-T c.717G>T p.W239C Missense 4/6 - 1
6-26093014-C-T c.718C>T p.L240= Synonymous 4/6 - 1
6-26093016-G-A c.720G>A p.L240= Synonymous 4/6 - 1
6-26093016-G-C c.720G>C p.L240= Synonymous 4/6 - 1
6-26093016-G-T c.720G>T p.L240= Synonymous 4/6 - 1
6-26093018-A-T c.722A>T p.K241M Missense 4/6 - 2
6-26093020-G-A c.724G>A p.D242N Missense 4/6 - 1
6-26093020-G-T c.724G>T p.D242Y Missense 4/6 - 4
6-26093022-T-C c.726T>C p.D242= Synonymous 4/6 - 1
6-26093026-C-T c.730C>T p.Q244* Nonsense 4/6 - 3
6-26093028-G-T c.732G>T p.Q244H Missense 4/6 - 1
6-26093030-C-G c.734C>G p.P245R Missense 4/6 - 1
6-26093030-C-T c.734C>T p.P245L Missense 4/6 - 1
6-26093033-TG-T c.739del p.D247Mfs*22 UnclassifiedDeletion 4/6 - 1
6-26093038-G-T c.742G>T p.A248S Missense 4/6 - 2
6-26093039-C-G c.743C>G p.A248G Missense 4/6 - 7
6-26093042-A-G c.746A>G p.K249R Missense 4/6 - 1
6-26093043-G-A c.747G>A p.K249= Synonymous 4/6 - 3
6-26093044-G-A c.748G>A p.E250K Missense 4/6 - 2
6-26093049-C-T c.753C>T p.F251= Synonymous 4/6 - 4
6-26093050-G-A c.754G>A p.E252K Missense 4/6 - 2
6-26093055-TA-T c.762del p.D255Tfs*14 Frameshift 4/6 - 2
6-26093059-G-T c.763G>T p.D255Y Missense 4/6 - 2
6-26093061-C-T c.765C>T p.D255= Synonymous 4/6 - 1
6-26093062-G-A c.766G>A p.V256I Missense 4/6 - 3
6-26093064-A-C c.768A>C p.V256= Synonymous 4/6 - 1
6-26093064-A-G c.768A>G p.V256= Synonymous 4/6 - 1
6-26093064-A-T c.768A>T p.V256= Synonymous 4/6 - 1
6-26093068-C-T c.772C>T p.P258S Missense 4/6 - 1
6-26093072-A-G c.776A>G p.N259S Missense 4/6 - 1
6-26093075-G-A c.779G>A p.G260E Missense 4/6 - 1
6-26093075-G-T c.779G>T p.G260V Missense 4/6 - 3
6-26093077-G-A c.781G>A p.D261N Missense 4/6 - 1
6-26093081-G-A c.785G>A p.G262E Missense 4/6 - 2
6-26093088-C-G c.792C>G p.Y264* Nonsense 4/6 - 1
6-26093088-C-T c.792C>T p.Y264= Synonymous 4/6 - 1
6-26093089-C-A c.793C>A p.Q265K Missense 4/6 - 1
6-26093089-C-T c.793C>T p.Q265* Nonsense 4/6 - 1
6-26093110-G-C c.814G>C p.V272L Missense 4/6 - 2
6-26093110-G-T c.814G>T p.V272L Missense 4/6 - 2
6-26093113-CCC-ATG c.817_819delinsATG p.P273M Missense 4/6 - 1
6-26093113-CC-TT c.817_818delinsTT p.P273F Missense 4/6 - 1
6-26093114-C-T c.818C>T p.P273L Missense 4/6 - 3
6-26093115-C-T c.819C>T p.P273= Synonymous 4/6 - 1
6-26093116-C-A c.820C>A p.P274T Missense 4/6 - 1
6-26093112-AC-A c.821del p.P274Lfs*22 Frameshift 4/6 - 1
6-26093121-G-A c.825G>A p.G275= Synonymous 4/6 - 1
6-26093121-G-C c.825G>C p.G275= Synonymous 4/6 - 1
6-26093121-G-T c.825G>T p.G275= Synonymous 4/6 - 1
6-26093122-G-A c.826G>A p.E276K Missense 4/6 - 1
6-26093125-G-A c.829G>A p.E277K Missense 4/6 - 13
6-26093127-G-A c.831G>A p.E277= Synonymous 4/6 - 1
6-26093131-AGA-TGG c.835_837delinsTGG p.R279W Missense 4/6 - 1
6-26093132-G-A c.836G>A p.R279K Missense 4/6 - 1
6-26093135-A-G c.839A>G p.Y280C Missense 4/6 - 1
6-26093137-A-G c.841A>G p.T281A Missense 4/6 - 1
6-26093138-C-A c.842C>A p.T281K Missense 4/6 - 1
6-26093138-C-T c.842C>T p.T281M Missense 4/6 - 3
6-26093139-G-A c.843G>A p.T281= Synonymous 4/6 - 2
6-26093139-G-C c.843G>C p.T281= Synonymous 4/6 - 1
6-26093139-G-T c.843G>T p.T281= Synonymous 4/6 - 1
6-26093140-T-A c.844T>A p.C282S Missense 4/6 - 2
6-26093140-TG-AC c.844_845delinsAC p.C282T Missense 4/6 - 5
6-26093140-TG-CA c.844_845inv p.C282H Missense 4/6 - 1
6-26093141-G-C c.845G>C p.C282S Missense 4/6 - 2
6-26093141-G-A c.845G>A p.C282Y Missense 4/6 - 1414
6-26093142-C-T c.846C>T p.C282= Synonymous 4/6 - 1
6-26093143-C-G c.847C>G p.Q283E Missense 4/6 - 1
6-26093144-A-C c.848A>C p.Q283P Missense 4/6 - 23
6-26093145-G-A c.849G>A p.Q283= Synonymous 4/6 - 3
6-26093146-G-A c.850G>A p.V284M Missense 4/6 - 1
6-26093146-G-T c.850G>T p.V284L Missense 4/6 - 1
6-26093148-G-A c.852G>A p.V284= Synonymous 4/6 - 2
6-26093149-G-T c.853G>T p.E285* Nonsense 4/6 - 1
6-26093150-A-C c.854A>C p.E285A Missense 4/6 - 1
6-26093161-C-A c.865C>A p.L289M Missense 4/6 - 1
6-26093161-C-T c.865C>T p.L289= Synonymous 4/6 - 1
6-26093163-G-A c.867G>A p.L289= Synonymous 4/6 - 4
6-26093163-G-C c.867G>C p.L289= Synonymous 4/6 - 1
6-26093163-G-T c.867G>T p.L289= Synonymous 4/6 - 1
6-26093167-C-G c.871C>G p.Q291E Missense 4/6 - 1
6-26093167-C-T c.871C>T p.Q291* Nonsense 4/6 - 2
6-26093174-T-C c.878T>C p.L293P Missense 4/6 - 1
6-26093177-T-C c.881T>C p.I294T Missense 4/6 - 1
6-26093180-T-A c.884T>A p.V295E Missense 4/6 - 1
6-26093180-T-C c.884T>C p.V295A Missense 4/6 - 8
6-26093182-A-G c.886A>G p.I296V Missense 4/6 - 1
6-26093186-G-A c.890G>A p.W297* Nonsense 4/6 - 2
6-26093187-G-A c.891G>A p.W297* Nonsense 4/6 - 1
6-26093188-G-T c.892G>T p.E298* Nonsense 4/6 - 2
6-26093189-G-T c.892+1G>T - IntronicSNV - 4/5 2
6-26093190-T-C c.892+2T>C - IntronicSNV - 4/5 1
6-26093236-G-A c.892+48G>A - IntronicSNV - 4/5 12
6-26093297-G-A c.893-50G>A - IntronicSNV - 4/5 1
6-26093303-T-C c.893-44T>C - IntronicSNV - 4/5 10
6-26093346-G-C c.893-1G>C - IntronicSNV - 4/5 1
6-26093348-G-C c.894G>C p.E298D Missense 5/6 - 7
6-26093348-G-T c.894G>T p.E298D Missense 5/6 - 8
6-26093349-C-A c.895C>A p.P299T Missense 5/6 - 1
6-26093350-C-T c.896C>T p.P299L Missense 5/6 - 1
6-26093353-C-G c.899C>G p.S300* Nonsense 5/6 - 1
6-26093355-CC-AT c.901_902delinsAT p.P301M Missense 5/6 - 1
6-26093355-CCG-TTT c.901_903delinsTTT p.P301F Missense 5/6 - 1
6-26093355-C-T c.901C>T p.P301S Missense 5/6 - 2
6-26093356-C-T c.902C>T p.P301L Missense 5/6 - 5
6-26093357-G-A c.903G>A p.P301= Synonymous 5/6 - 1
6-26093357-G-C c.903G>C p.P301= Synonymous 5/6 - 1
6-26093357-G-T c.903G>T p.P301= Synonymous 5/6 - 1
6-26093362-G-A c.908G>A p.G303D Missense 5/6 - 1
6-26093362-G-T c.908G>T p.G303V Missense 5/6 - 1
6-26093372-C-A c.918C>A p.V306= Synonymous 5/6 - 1
6-26093372-C-G c.918C>G p.V306= Synonymous 5/6 - 1
6-26093372-C-T c.918C>T p.V306= Synonymous 5/6 - 1
6-26093373-A-G c.919A>G p.I307V Missense 5/6 - 1
6-26093376-G-A c.922G>A p.G308R Missense 5/6 - 3
6-26093376-G-C c.922G>C p.G308R Missense 5/6 - 1
6-26093376-GGA-TGT c.922_924delinsTGT p.G308C Missense 5/6 - 1
6-26093377-G-A c.923G>A p.G308E Missense 5/6 - 1
6-26093380-T-C c.926T>C p.V309A Missense 5/6 - 1
6-26093381-C-A c.927C>A p.V309= Synonymous 5/6 - 1
6-26093381-C-G c.927C>G p.V309= Synonymous 5/6 - 1
6-26093381-C-T c.927C>T p.V309= Synonymous 5/6 - 1
6-26093384-C-G c.930C>G p.I310M Missense 5/6 - 1
6-26093385-AG-TA c.931_932delinsTA p.S311Y Missense 5/6 - 1
6-26093385-A-T c.931A>T p.S311C Missense 5/6 - 1
6-26093386-G-A c.932G>A p.S311N Missense 5/6 - 1
6-26093388-G-T c.934G>T p.G312* Nonsense 5/6 - 1
6-26093394-G-A c.940G>A p.A314T Missense 5/6 - 1
6-26093394-G-C c.940G>C p.A314P Missense 5/6 - 1
6-26093394-G-T c.940G>T p.A314S Missense 5/6 - 1
6-26093395-C-T c.941C>T p.A314V Missense 5/6 - 1
6-26093396-T-A c.942T>A p.A314= Synonymous 5/6 - 1
6-26093396-T-C c.942T>C p.A314= Synonymous 5/6 - 1
6-26093396-T-G c.942T>G p.A314= Synonymous 5/6 - 1
6-26093401-T-G c.947T>G p.F316C Missense 5/6 - 1
6-26093403-G-T c.949G>T p.V317F Missense 5/6 - 1
6-26093406-G-A c.952G>A p.V318I Missense 5/6 - 1
6-26093406-G-C c.952G>C p.V318L Missense 5/6 - 1
6-26093407-T-C c.953T>C p.V318A Missense 5/6 - 1
6-26093411-C-T c.957C>T p.I319= Synonymous 5/6 - 1
6-26093412-TT-CC c.958_959delinsCC p.L320P Missense 5/6 - 1
6-26093422-G-A c.968G>A p.G323E Missense 5/6 - 1
6-26093422-G-T c.968G>T p.G323V Missense 5/6 - 3
6-26093432-C-G c.978C>G p.F326L Missense 5/6 - 1
6-26093433-AT-GC c.979_980delinsGC p.I327A Missense 5/6 - 2
6-26093440-T-A c.986T>A p.L329* Nonsense 5/6 - 1
6-26093440-T-G c.986T>G p.L329* Nonsense 5/6 - 1
6-26093443-G-C c.989G>C p.R330T Missense 5/6 - 2
6-26093443-G-T c.989G>T p.R330M Missense 5/6 - 8
6-26093444-G-T c.990G>T p.R330S Missense 5/6 - 1
6-26093446-A-G c.992A>G p.K331R Missense 5/6 - 1
6-26093447-G-C c.993G>C p.K331N Missense 5/6 - 1
6-26093447-G-T c.993G>T p.K331N Missense 5/6 - 1
6-26093448-AGG-CAT c.994_996delinsCAT p.R332H Missense 5/6 - 1
6-26093449-G-A c.995G>A p.R332K Missense 5/6 - 2
6-26093454-G-A c.1000G>A p.G334S Missense 5/6 - 1
6-26093455-G-A c.1001G>A p.G334D Missense 5/6 - 2
6-26093457-TCA-ATG c.1003_1005delinsATG p.S335M Missense 5/6 - 1
6-26093457-T-G c.1003T>G p.S335A Missense 5/6 - 1
6-26093461-G-A c.1006+1G>A - IntronicSNV - 5/5 2
6-26093462-T-A c.1006+2T>A - IntronicSNV - 5/5 1
6-26094026-G-A c.1007-388G>A - IntronicSNV - 5/5 7
6-26094026-G-C c.1007-388G>C - IntronicSNV - 5/5 7
6-26094026-G-T c.1007-388G>T - IntronicSNV - 5/5 7
6-26094367-G-A c.1007-47G>A - IntronicSNV - 5/5 24
6-26094367-G-T c.1007-47G>T - IntronicSNV - 5/5 24
6-26094414-G-A c.1007G>A p.R336K Missense 6/6 - 1
6-26094417-G-A c.1010G>A p.G337E Missense 6/6 - 2
6-26094419-G-T c.1012G>T p.A338S Missense 6/6 - 2
6-26094421-C-A c.1014C>A p.A338= Synonymous 6/6 - 1
6-26094421-C-G c.1014C>G p.A338= Synonymous 6/6 - 1
6-26094421-C-T c.1014C>T p.A338= Synonymous 6/6 - 1
6-26094428-CAC-TAA c.1021_1023delinsTAA p.H341* Nonsense 6/6 - 1
6-26094426-GGCACTACGTCTTA-G c.1022_1034del p.H341Lfs*119 Frameshift 6/6 - 1
6-26094430-C-T c.1023C>T p.H341= Synonymous 6/6 - 1
6-26094431-T-C c.1024T>C p.Y342H Missense 6/6 - 2
6-26094432-A-G c.1025A>G p.Y342C Missense 6/6 - 2
6-26094432-A-T c.1025A>T p.Y342F Missense 6/6 - 2
6-26094433-C-A c.1026C>A p.Y342* Nonsense 6/6 - 1
6-26094433-C-T c.1026C>T p.Y342= Synonymous 6/6 - 3
6-26094434-G-A c.1027G>A p.V343I Missense 6/6 - 2
6-26094436-C-A c.1029C>A p.V343= Synonymous 6/6 - 1
6-26094436-C-G c.1029C>G p.V343= Synonymous 6/6 - 1
6-26094436-C-T c.1029C>T p.V343= Synonymous 6/6 - 1
6-26094446-C-T c.1039C>T p.R347C Missense 6/6 - 1
6-26094447-G-A c.1040G>A p.R347H Missense 6/6 - 2
6-26094450-A-G c.1043A>G p.E348G Missense 6/6 - 4
6-26094451-G-A c.1044G>A p.E348= Synonymous 6/6 - 2
6-26094457-C-A c.*3C>A - 3-UTRSNV 6/6 - 1
6-26094457-C-T c.*3C>T - 3-UTRSNV 6/6 - 1
6-26094575-G-A c.*121G>A - 3-UTRSNV 6/6 - 1
6-26094750-A-T c.*296A>T - 3-UTRSNV 6/6 - 1
6-26095028-A-G c.*574A>G - 3-UTRSNV 6/6 - 2
6-26095643-G-A c.*1189G>A - IntergenicSNV 6/6 - 2
6-26095736-T-A c.*1282T>A - IntergenicSNV 6/6 - 1
6-26095744-T-A c.*1290T>A - IntergenicSNV 6/6 - 2
6-26095931-G-A c.*1477G>A - IntergenicSNV 6/6 - 7
6-26095931-G-T c.*1477G>T - IntergenicSNV 6/6 - 7
6-26096748-G-C c.*2294G>C - IntergenicSNV 6/6 - 8
6-26097046-T-C c.*2592T>C - IntergenicSNV 6/6 - 2
6-26097194-G-A c.*2740G>A - IntergenicSNV 6/6 - 6
6-26097384-T-C c.*2930T>C - IntergenicSNV 6/6 - 8
6-26098474-T-C c.*4020T>C - IntergenicSNV 6/6 - 3