OR2B6

OR2B6 olfactory receptor family 2 subfamily B member 6

Annotation transcript: NM_012367.1

523 unique variant annotations were identified in 204 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
6-27925021-G-A c.3G>A p.M1? Missense 1/1 - 2
6-27925024-T-A c.6T>A p.N2K Missense 1/1 - 1
6-27925027-G-T c.9G>T p.W3C Missense 1/1 - 1
6-27925030-A-T c.12A>T p.V4= Synonymous 1/1 - 1
6-27925033-T-C c.15T>C p.N5= Synonymous 1/1 - 1
6-27925039-C-T c.21C>T p.S7= Synonymous 1/1 - 2
6-27925040-A-G c.22A>G p.I8V Missense 1/1 - 1
6-27925047-A-T c.29A>T p.Q10L Missense 1/1 - 1
6-27925048-G-T c.30G>T p.Q10H Missense 1/1 - 1
6-27925049-G-A c.31G>A p.E11K Missense 1/1 - 2
6-27925059-T-G c.41T>G p.L14R Missense 1/1 - 1
6-27925060-G-C c.42G>C p.L14= Synonymous 1/1 - 1
6-27925061-C-T c.43C>T p.L15= Synonymous 1/1 - 2
6-27925063-G-A c.45G>A p.L15= Synonymous 1/1 - 2
6-27925063-G-C c.45G>C p.L15= Synonymous 1/1 - 1
6-27925063-G-T c.45G>T p.L15= Synonymous 1/1 - 1
6-27925062-TG-T c.47del p.G16Vfs*17 Frameshift 1/1 - 1
6-27925069-C-A c.51C>A p.F17L Missense 1/1 - 1
6-27925073-G-A c.55G>A p.D19N Missense 1/1 - 1
6-27925074-A-G c.56A>G p.D19G Missense 1/1 - 1
6-27925076-C-G c.58C>G p.R20G Missense 1/1 - 4
6-27925076-CGA-TGT c.58_60delinsTGT p.R20C Missense 1/1 - 1
6-27925076-C-T c.58C>T p.R20* Nonsense 1/1 - 3
6-27925077-G-T c.59G>T p.R20L Missense 1/1 - 5
6-27925080-C-T c.62C>T p.P21L Missense 1/1 - 1
6-27925082-T-C c.64T>C p.W22R Missense 1/1 - 1
6-27925083-G-A c.65G>A p.W22* Nonsense 1/1 - 2
6-27925084-G-A c.66G>A p.W22* Nonsense 1/1 - 2
6-27925085-CT-TG c.67_68delinsTG p.L23W Missense 1/1 - 1
6-27925088-G-A c.70G>A p.E24K Missense 1/1 - 1
6-27925089-A-C c.71A>C p.E24A Missense 1/1 - 1
6-27925094-C-T c.76C>T p.P26S Missense 1/1 - 2
6-27925098-T-G c.80T>G p.L27R Missense 1/1 - 1
6-27925099-C-T c.81C>T p.L27= Synonymous 1/1 - 2
6-27925100-C-G c.82C>G p.L28V Missense 1/1 - 1
6-27925100-C-T c.82C>T p.L28F Missense 1/1 - 7
6-27925103-G-A c.85G>A p.V29M Missense 1/1 - 1
6-27925104-T-A c.86T>A p.V29E Missense 1/1 - 1
6-27925106-G-T c.88G>T p.V30F Missense 1/1 - 1
6-27925109-T-G c.91T>G p.F31V Missense 1/1 - 1
6-27925114-G-A c.96G>A p.L32= Synonymous 1/1 - 1
6-27925114-G-C c.96G>C p.L32F Missense 1/1 - 7
6-27925114-G-T c.96G>T p.L32F Missense 1/1 - 6
6-27925119-C-A c.101C>A p.S34Y Missense 1/1 - 1
6-27925119-C-G c.101C>G p.S34C Missense 1/1 - 2
6-27925120-T-C c.102T>C p.S34= Synonymous 1/1 - 1
6-27925126-T-C c.108T>C p.T36= Synonymous 1/1 - 1
6-27925128-T-C c.110T>C p.V37A Missense 1/1 - 1
6-27925130-A-G c.112A>G p.T38A Missense 1/1 - 1
6-27925131-C-T c.113C>T p.T38I Missense 1/1 - 1
6-27925133-A-G c.115A>G p.I39V Missense 1/1 - 1
6-27925134-T-A c.116T>A p.I39N Missense 1/1 - 1
6-27925135-C-T c.117C>T p.I39= Synonymous 1/1 - 2
6-27925136-T-C c.118T>C p.F40L Missense 1/1 - 1
6-27925138-T-A c.120T>A p.F40L Missense 1/1 - 1
6-27925138-T-G c.120T>G p.F40L Missense 1/1 - 1
6-27925137-T-C c.119T>C p.F40S Missense 1/1 - 1
6-27925138-T-C c.120T>C p.F40= Synonymous 1/1 - 1
6-27925139-G-A c.121G>A p.G41S Missense 1/1 - 1
6-27925140-G-A c.122G>A p.G41D Missense 1/1 - 2
6-27925140-G-T c.122G>T p.G41V Missense 1/1 - 4
6-27925148-A-T c.130A>T p.T44S Missense 1/1 - 1
6-27925149-C-G c.131C>G p.T44S Missense 1/1 - 1
6-27925155-T-G c.137T>G p.I46S Missense 1/1 - 1
6-27925159-A-G c.141A>G p.L47= Synonymous 1/1 - 1
6-27925163-T-C c.145T>C p.S49P Missense 1/1 - 2
6-27925164-C-T c.146C>T p.S49L Missense 1/1 - 4
6-27925167-G-A c.149G>A p.R50H Missense 1/1 - 2
6-27925167-G-T c.149G>T p.R50L Missense 1/1 - 1
6-27925169-C-A c.151C>A p.L51M Missense 1/1 - 4
6-27925170-T-A c.152T>A p.L51Q Missense 1/1 - 1
6-27925170-T-C c.152T>C p.L51P Missense 1/1 - 1
6-27925174-C-T c.156C>T p.D52= Synonymous 1/1 - 1
6-27925175-A-G c.157A>G p.T53A Missense 1/1 - 1
6-27925175-A-T c.157A>T p.T53S Missense 1/1 - 2
6-27925176-C-G c.158C>G p.T53S Missense 1/1 - 2
6-27925182-T-G c.164T>G p.L55R Missense 1/1 - 2
6-27925184-C-T c.166C>T p.H56Y Missense 1/1 - 4
6-27925185-A-C c.167A>C p.H56P Missense 1/1 - 1
6-27925188-C-A c.170C>A p.T57N Missense 1/1 - 2
6-27925189-C-A c.171C>A p.T57= Synonymous 1/1 - 1
6-27925189-C-T c.171C>T p.T57= Synonymous 1/1 - 1
6-27925190-C-T c.172C>T p.P58S Missense 1/1 - 1
6-27925191-C-A c.173C>A p.P58H Missense 1/1 - 1
6-27925191-C-T c.173C>T p.P58L Missense 1/1 - 3
6-27925194-T-C c.176T>C p.M59T Missense 1/1 - 1
6-27925194-T-G c.176T>G p.M59R Missense 1/1 - 1
6-27925196-T-C c.178T>C p.Y60H Missense 1/1 - 1
6-27925199-T-C c.181T>C p.F61L Missense 1/1 - 1
6-27925199-T-G c.181T>G p.F61V Missense 1/1 - 1
6-27925202-T-C c.184T>C p.F62L Missense 1/1 - 1
6-27925203-T-A c.185T>A p.F62Y Missense 1/1 - 2
6-27925197-AT-A c.186del p.T64Pfs*19 Frameshift 1/1 - 1
6-27925204-T-G c.186T>G p.F62L Missense 1/1 - 1
6-27925205-C-T c.187C>T p.L63F Missense 1/1 - 1
6-27925206-T-C c.188T>C p.L63P Missense 1/1 - 1
6-27925208-TA-T c.190del p.T64Pfs*19 Frameshift 1/1 - 1
6-27925212-A-G c.194A>G p.N65S Missense 1/1 - 1
6-27925213-T-A c.195T>A p.N65K Missense 1/1 - 1
6-27925214-C-A c.196C>A p.L66I Missense 1/1 - 1
6-27925214-C-T c.196C>T p.L66= Synonymous 1/1 - 4
6-27925216-A-C c.198A>C p.L66= Synonymous 1/1 - 1
6-27925216-A-G c.198A>G p.L66= Synonymous 1/1 - 2
6-27925216-A-T c.198A>T p.L66= Synonymous 1/1 - 1
6-27925218-C-T c.200C>T p.S67L Missense 1/1 - 1
6-27925219-A-T c.201A>T p.S67= Synonymous 1/1 - 1
6-27925220-C-G c.202C>G p.L68V Missense 1/1 - 2
6-27925222-C-G c.204C>G p.L68= Synonymous 1/1 - 2
6-27925225-G-A c.207G>A p.L69= Synonymous 1/1 - 1
6-27925226-G-C c.208G>C p.D70H Missense 1/1 - 1
6-27925229-C-A c.211C>A p.L71I Missense 1/1 - 1
6-27925232-T-G c.214T>G p.C72G Missense 1/1 - 1
6-27925239-C-T c.221C>T p.T74I Missense 1/1 - 2
6-27925240-C-G c.222C>G p.T74= Synonymous 1/1 - 1
6-27925242-C-A c.224C>A p.T75K Missense 1/1 - 1
6-27925245-G-A c.227G>A p.C76Y Missense 1/1 - 1
6-27925253-C-A c.235C>A p.P79T Missense 1/1 - 2
6-27925254-C-T c.236C>T p.P79L Missense 1/1 - 1
6-27925255-A-T c.237A>T p.P79= Synonymous 1/1 - 2
6-27925258-A-T c.240A>T p.Q80H Missense 1/1 - 1
6-27925259-A-G c.241A>G p.M81V Missense 1/1 - 1
6-27925263-T-C c.245T>C p.L82P Missense 1/1 - 3
6-27925264-A-T c.246A>T p.L82= Synonymous 1/1 - 2
6-27925268-A-C c.250A>C p.N84H Missense 1/1 - 1
6-27925271-T-G c.253T>G p.L85V Missense 1/1 - 1
6-27925275-G-A c.257G>A p.C86Y Missense 1/1 - 2
6-27925276-C-A c.258C>A p.C86* Nonsense 1/1 - 3
6-27925276-C-T c.258C>T p.C86= Synonymous 1/1 - 3
6-27925278-G-A c.260G>A p.S87N Missense 1/1 - 1
6-27925278-G-T c.260G>T p.S87I Missense 1/1 - 1
6-27925280-A-G c.262A>G p.I88V Missense 1/1 - 3
6-27925280-A-T c.262A>T p.I88F Missense 1/1 - 4
6-27925282-C-T c.264C>T p.I88= Synonymous 1/1 - 2
6-27925284-G-A c.266G>A p.R89K Missense 1/1 - 4
6-27925284-G-T c.266G>T p.R89M Missense 1/1 - 1
6-27925286-A-G c.268A>G p.K90E Missense 1/1 - 1
6-27925288-A-C c.270A>C p.K90N Missense 1/1 - 2
6-27925289-G-C c.271G>C p.V91L Missense 1/1 - 2
6-27925289-G-T c.271G>T p.V91L Missense 1/1 - 4
6-27925290-T-A c.272T>A p.V91E Missense 1/1 - 1
6-27925291-A-C c.273A>C p.V91= Synonymous 1/1 - 1
6-27925291-A-G c.273A>G p.V91= Synonymous 1/1 - 1
6-27925291-A-T c.273A>T p.V91= Synonymous 1/1 - 1
6-27925296-G-A c.278G>A p.S93N Missense 1/1 - 1
6-27925297-T-G c.279T>G p.S93R Missense 1/1 - 1
6-27925301-C-G c.283C>G p.R95G Missense 1/1 - 2
6-27925301-C-T c.283C>T p.R95C Missense 1/1 - 6
6-27925302-G-A c.284G>A p.R95H Missense 1/1 - 3
6-27925302-G-C c.284G>C p.R95P Missense 1/1 - 1
6-27925304-G-A c.286G>A p.G96S Missense 1/1 - 2
6-27925304-GG-TT c.286_287delinsTT p.G96F Missense 1/1 - 1
6-27925304-G-T c.286G>T p.G96C Missense 1/1 - 1
6-27925305-G-A c.287G>A p.G96D Missense 1/1 - 1
6-27925306-C-T c.288C>T p.G96= Synonymous 1/1 - 1
6-27925307-T-G c.289T>G p.C97G Missense 1/1 - 1
6-27925308-G-A c.290G>A p.C97Y Missense 1/1 - 1
6-27925310-G-A c.292G>A p.V98I Missense 1/1 - 1
6-27925312-A-G c.294A>G p.V98= Synonymous 1/1 - 1
6-27925315-C-A c.297C>A p.A99= Synonymous 1/1 - 1
6-27925315-C-G c.297C>G p.A99= Synonymous 1/1 - 1
6-27925315-C-T c.297C>T p.A99= Synonymous 1/1 - 1
6-27925319-C-A c.301C>A p.L101I Missense 1/1 - 4
6-27925319-C-G c.301C>G p.L101V Missense 1/1 - 1
6-27925324-C-T c.306C>T p.F102= Synonymous 1/1 - 1
6-27925331-C-T c.313C>T p.L105= Synonymous 1/1 - 2
6-27925332-T-C c.314T>C p.L105P Missense 1/1 - 1
6-27925333-G-T c.315G>T p.L105= Synonymous 1/1 - 1
6-27925334-G-A c.316G>A p.A106T Missense 1/1 - 2
6-27925335-CC-TT c.317_318delinsTT p.A106V Missense 1/1 - 1
6-27925335-C-T c.317C>T p.A106V Missense 1/1 - 4
6-27925338-T-C c.320T>C p.L107S Missense 1/1 - 1
6-27925339-G-A c.321G>A p.L107= Synonymous 1/1 - 1
6-27925341-G-A c.323G>A p.G108E Missense 1/1 - 1
6-27925338-TGG-T c.324_325del p.A109Yfs*2 Frameshift 1/1 - 1
6-27925342-G-A c.324G>A p.G108= Synonymous 1/1 - 3
6-27925342-G-C c.324G>C p.G108= Synonymous 1/1 - 2
6-27925342-G-T c.324G>T p.G108= Synonymous 1/1 - 3
6-27925338-T-TG c.325dup p.A109Gfs*3 Frameshift 1/1 - 1
6-27925348-T-C c.330T>C p.T110= Synonymous 1/1 - 1
6-27925349-G-A c.331G>A p.E111K Missense 1/1 - 1
6-27925352-T-C c.334T>C p.Y112H Missense 1/1 - 1
6-27925357-T-C c.339T>C p.L113= Synonymous 1/1 - 1
6-27925359-T-A c.341T>A p.L114H Missense 1/1 - 1
6-27925360-C-T c.342C>T p.L114= Synonymous 1/1 - 4
6-27925366-C-A c.348C>A p.A116= Synonymous 1/1 - 1
6-27925366-C-T c.348C>T p.A116= Synonymous 1/1 - 1
6-27925367-G-A c.349G>A p.V117I Missense 1/1 - 13
6-27925369-C-A c.351C>A p.V117= Synonymous 1/1 - 1
6-27925369-C-G c.351C>G p.V117= Synonymous 1/1 - 1
6-27925369-C-T c.351C>T p.V117= Synonymous 1/1 - 1
6-27925370-A-G c.352A>G p.M118V Missense 1/1 - 3
6-27925371-T-C c.353T>C p.M118T Missense 1/1 - 1
6-27925372-G-A c.354G>A p.M118I Missense 1/1 - 1
6-27925374-C-A c.356C>A p.S119Y Missense 1/1 - 2
6-27925375-C-G c.357C>G p.S119= Synonymous 1/1 - 1
6-27925378-T-G c.360T>G p.F120L Missense 1/1 - 1
6-27925379-G-C c.361G>C p.D121H Missense 1/1 - 1
6-27925384-G-C c.366G>C p.R122S Missense 1/1 - 1
6-27925385-T-C c.367T>C p.F123L Missense 1/1 - 2
6-27925385-T-G c.367T>G p.F123V Missense 1/1 - 1
6-27925387-T-G c.369T>G p.F123L Missense 1/1 - 2
6-27925387-T-A c.369T>A p.F123L Missense 1/1 - 3
6-27925389-T-G c.371T>G p.V124G Missense 1/1 - 1
6-27925394-A-G c.376A>G p.I126V Missense 1/1 - 4
6-27925395-T-C c.377T>C p.I126T Missense 1/1 - 1
6-27925396-T-A c.378T>A p.I126= Synonymous 1/1 - 2
6-27925396-T-C c.378T>C p.I126= Synonymous 1/1 - 2
6-27925398-G-A c.380G>A p.C127Y Missense 1/1 - 1
6-27925398-G-T c.380G>T p.C127F Missense 1/1 - 1
6-27925400-C-T c.382C>T p.R128W Missense 1/1 - 2
6-27925401-G-A c.383G>A p.R128Q Missense 1/1 - 2
6-27925402-G-A c.384G>A p.R128= Synonymous 1/1 - 1
6-27925405-T-C c.387T>C p.P129= Synonymous 1/1 - 1
6-27925408-C-T c.390C>T p.L130= Synonymous 1/1 - 2
6-27925409-C-T c.391C>T p.H131Y Missense 1/1 - 2
6-27925410-A-G c.392A>G p.H131R Missense 1/1 - 1
6-27925410-A-T c.392A>T p.H131L Missense 1/1 - 1
6-27925414-C-A c.396C>A p.Y132* Nonsense 1/1 - 2
6-27925414-C-G c.396C>G p.Y132* Nonsense 1/1 - 3
6-27925418-G-A c.400G>A p.V134I Missense 1/1 - 1
6-27925418-G-T c.400G>T p.V134F Missense 1/1 - 2
6-27925419-T-C c.401T>C p.V134A Missense 1/1 - 1
6-27925422-T-A c.404T>A p.I135N Missense 1/1 - 1
6-27925422-T-C c.404T>C p.I135T Missense 1/1 - 1
6-27925425-T-C c.407T>C p.M136T Missense 1/1 - 2
6-27925429-C-T c.411C>T p.H137= Synonymous 1/1 - 1
6-27925431-A-G c.413A>G p.Q138R Missense 1/1 - 1
6-27925432-G-C c.414G>C p.Q138H Missense 1/1 - 1
6-27925433-AGA-TGT c.415_417delinsTGT p.R139C Missense 1/1 - 1
6-27925436-C-A c.418C>A p.L140I Missense 1/1 - 1
6-27925440-G-A c.422G>A p.C141Y Missense 1/1 - 1
6-27925441-C-A c.423C>A p.C141* Nonsense 1/1 - 5
6-27925443-T-C c.425T>C p.L142P Missense 1/1 - 1
6-27925444-C-A c.426C>A p.L142= Synonymous 1/1 - 1
6-27925444-C-G c.426C>G p.L142= Synonymous 1/1 - 1
6-27925444-C-T c.426C>T p.L142= Synonymous 1/1 - 2
6-27925445-C-A c.427C>A p.Q143K Missense 1/1 - 1
6-27925445-C-T c.427C>T p.Q143* Nonsense 1/1 - 4
6-27925448-T-A c.430T>A p.L144M Missense 1/1 - 1
6-27925448-T-G c.430T>G p.L144V Missense 1/1 - 5
6-27925449-T-C c.431T>C p.L144S Missense 1/1 - 1
6-27925449-T-G c.431T>G p.L144W Missense 1/1 - 1
6-27925450-G-A c.432G>A p.L144= Synonymous 1/1 - 1
6-27925452-C-A c.434C>A p.A145E Missense 1/1 - 1
6-27925452-C-T c.434C>T p.A145V Missense 1/1 - 2
6-27925455-C-A c.437C>A p.A146D Missense 1/1 - 1
6-27925456-T-A c.438T>A p.A146= Synonymous 1/1 - 2
6-27925456-T-C c.438T>C p.A146= Synonymous 1/1 - 5
6-27925456-T-G c.438T>G p.A146= Synonymous 1/1 - 2
6-27925457-G-C c.439G>C p.A147P Missense 1/1 - 4
6-27925461-C-T c.443C>T p.S148F Missense 1/1 - 1
6-27925462-C-G c.444C>G p.S148= Synonymous 1/1 - 1
6-27925464-G-C c.446G>C p.W149S Missense 1/1 - 1
6-27925470-C-T c.452C>T p.T151I Missense 1/1 - 1
6-27925477-T-C c.459T>C p.F153= Synonymous 1/1 - 1
6-27925483-C-A c.465C>A p.N155K Missense 1/1 - 1
6-27925483-C-G c.465C>G p.N155K Missense 1/1 - 1
6-27925489-G-A c.471G>A p.V157= Synonymous 1/1 - 1
6-27925489-G-C c.471G>C p.V157= Synonymous 1/1 - 1
6-27925489-G-T c.471G>T p.V157= Synonymous 1/1 - 1
6-27925491-G-T c.473G>T p.W158L Missense 1/1 - 6
6-27925493-T-C c.475T>C p.L159= Synonymous 1/1 - 1
6-27925495-G-A c.477G>A p.L159= Synonymous 1/1 - 1
6-27925498-T-C c.480T>C p.S160= Synonymous 1/1 - 1
6-27925499-A-C c.481A>C p.T161P Missense 1/1 - 2
6-27925506-C-A c.488C>A p.T163N Missense 1/1 - 2
6-27925506-C-T c.488C>T p.T163I Missense 1/1 - 1
6-27925508-C-T c.490C>T p.L164F Missense 1/1 - 1
6-27925514-C-G c.496C>G p.L166V Missense 1/1 - 1
6-27925516-G-C c.498G>C p.L166= Synonymous 1/1 - 1
6-27925519-A-C c.501A>C p.P167= Synonymous 1/1 - 1
6-27925519-A-G c.501A>G p.P167= Synonymous 1/1 - 1
6-27925519-A-T c.501A>T p.P167= Synonymous 1/1 - 2
6-27925520-C-A c.502C>A p.L168I Missense 1/1 - 2
6-27925528-C-T c.510C>T p.D170= Synonymous 1/1 - 1
6-27925529-C-T c.511C>T p.P171S Missense 1/1 - 1
6-27925530-C-G c.512C>G p.P171R Missense 1/1 - 1
6-27925530-C-T c.512C>T p.P171L Missense 1/1 - 2
6-27925533-A-C c.515A>C p.Y172S Missense 1/1 - 1
6-27925533-A-G c.515A>G p.Y172C Missense 1/1 - 1
6-27925534-T-C c.516T>C p.Y172= Synonymous 1/1 - 1
6-27925535-G-C c.517G>C p.V173L Missense 1/1 - 1
6-27925535-G-T c.517G>T p.V173L Missense 1/1 - 2
6-27925537-G-A c.519G>A p.V173= Synonymous 1/1 - 2
6-27925538-A-G c.520A>G p.I174V Missense 1/1 - 1
6-27925539-T-C c.521T>C p.I174T Missense 1/1 - 1
6-27925541-G-A c.523G>A p.D175N Missense 1/1 - 3
6-27925541-G-C c.523G>C p.D175H Missense 1/1 - 1
6-27925541-G-T c.523G>T p.D175Y Missense 1/1 - 1
6-27925544-C-T c.526C>T p.H176Y Missense 1/1 - 2
6-27925550-C-A c.532C>A p.L178I Missense 1/1 - 4
6-27925550-C-T c.532C>T p.L178F Missense 1/1 - 2
6-27925552-C-A c.534C>A p.L178= Synonymous 1/1 - 1
6-27925552-C-G c.534C>G p.L178= Synonymous 1/1 - 1
6-27925552-C-T c.534C>T p.L178= Synonymous 1/1 - 3
6-27925555-T-C c.537T>C p.C179= Synonymous 1/1 - 1
6-27925558-A-G c.540A>G p.E180= Synonymous 1/1 - 2
6-27925558-A-T c.540A>T p.E180D Missense 1/1 - 1
6-27925559-G-T c.541G>T p.V181F Missense 1/1 - 1
6-27925562-C-T c.544C>T p.P182S Missense 1/1 - 1
6-27925564-T-A c.546T>A p.P182= Synonymous 1/1 - 2
6-27925566-C-T c.548C>T p.A183V Missense 1/1 - 1
6-27925570-G-A c.552G>A p.L184= Synonymous 1/1 - 1
6-27925570-G-T c.552G>T p.L184= Synonymous 1/1 - 1
6-27925572-T-C c.554T>C p.L185P Missense 1/1 - 1
6-27925573-C-A c.555C>A p.L185= Synonymous 1/1 - 3
6-27925573-C-G c.555C>G p.L185= Synonymous 1/1 - 5
6-27925573-C-T c.555C>T p.L185= Synonymous 1/1 - 3
6-27925576-G-A c.558G>A p.K186= Synonymous 1/1 - 1
6-27925581-C-A c.563C>A p.S188Y Missense 1/1 - 1
6-27925583-T-C c.565T>C p.C189R Missense 1/1 - 1
6-27925583-T-G c.565T>G p.C189G Missense 1/1 - 1
6-27925584-G-C c.566G>C p.C189S Missense 1/1 - 1
6-27925586-G-A c.568G>A p.V190I Missense 1/1 - 1
6-27925589-G-A c.571G>A p.E191K Missense 1/1 - 4
6-27925589-G-C c.571G>C p.E191Q Missense 1/1 - 3
6-27925596-C-T c.578C>T p.T193I Missense 1/1 - 1
6-27925600-A-C c.582A>C p.A194= Synonymous 1/1 - 1
6-27925600-A-G c.582A>G p.A194= Synonymous 1/1 - 1
6-27925600-A-T c.582A>T p.A194= Synonymous 1/1 - 2
6-27925601-A-G c.583A>G p.N195D Missense 1/1 - 1
6-27925602-A-G c.584A>G p.N195S Missense 1/1 - 1
6-27925607-G-A c.589G>A p.A197T Missense 1/1 - 2
6-27925610-G-C c.592G>C p.E198Q Missense 1/1 - 1
6-27925613-C-A c.595C>A p.L199I Missense 1/1 - 1
6-27925613-C-G c.595C>G p.L199V Missense 1/1 - 1
6-27925614-T-A c.596T>A p.L199Q Missense 1/1 - 1
6-27925616-T-C c.598T>C p.F200L Missense 1/1 - 1
6-27925618-C-G c.600C>G p.F200L Missense 1/1 - 1
6-27925618-C-T c.600C>T p.F200= Synonymous 1/1 - 4
6-27925619-C-T c.601C>T p.L201F Missense 1/1 - 5
6-27925621-T-C c.603T>C p.L201= Synonymous 1/1 - 1
6-27925626-G-A c.608G>A p.S203N Missense 1/1 - 2
6-27925628-G-C c.610G>C p.E204Q Missense 1/1 - 1
6-27925629-A-T c.611A>T p.E204V Missense 1/1 - 9
6-27925630-G-A c.612G>A p.E204= Synonymous 1/1 - 2
6-27925633-C-T c.615C>T p.L205= Synonymous 1/1 - 1
6-27925636-C-G c.618C>G p.F206L Missense 1/1 - 1
6-27925636-C-T c.618C>T p.F206= Synonymous 1/1 - 5
6-27925637-C-T c.619C>T p.H207Y Missense 1/1 - 3
6-27925640-C-G c.622C>G p.L208V Missense 1/1 - 1
6-27925641-T-G c.623T>G p.L208R Missense 1/1 - 1
6-27925643-A-C c.625A>C p.I209L Missense 1/1 - 1
6-27925643-A-T c.625A>T p.I209L Missense 1/1 - 1
6-27925644-T-C c.626T>C p.I209T Missense 1/1 - 1
6-27925646-C-T c.628C>T p.P210S Missense 1/1 - 1
6-27925645-AC-A c.631del p.L211* Frameshift 1/1 - 1
6-27925649-C-T c.631C>T p.L211= Synonymous 1/1 - 1
6-27925649-CT-TA c.631_632delinsTA p.L211* Nonsense 1/1 - 2
6-27925654-A-G c.636A>G p.T212= Synonymous 1/1 - 2
6-27925655-C-G c.637C>G p.L213V Missense 1/1 - 1
6-27925655-C-T c.637C>T p.L213F Missense 1/1 - 2
6-27925656-T-C c.638T>C p.L213P Missense 1/1 - 1
6-27925657-C-A c.639C>A p.L213= Synonymous 1/1 - 2
6-27925657-C-T c.639C>T p.L213= Synonymous 1/1 - 3
6-27925667-T-A c.649T>A p.S217T Missense 1/1 - 1
6-27925663-TATATC-T c.650_654del p.S217Cfs*14 Frameshift 1/1 - 1
6-27925668-C-T c.650C>T p.S217L Missense 1/1 - 8
6-27925672-T-G c.654T>G p.Y218* Nonsense 1/1 - 1
6-27925673-G-A c.655G>A p.A219T Missense 1/1 - 1
6-27925674-C-G c.656C>G p.A219G Missense 1/1 - 1
6-27925674-C-T c.656C>T p.A219V Missense 1/1 - 1
6-27925680-T-C c.662T>C p.I221T Missense 1/1 - 2
6-27925685-C-A c.667C>A p.R223= Synonymous 1/1 - 1
6-27925685-C-T c.667C>T p.R223* Nonsense 1/1 - 8
6-27925686-G-A c.668G>A p.R223Q Missense 1/1 - 8
6-27925686-G-T c.668G>T p.R223L Missense 1/1 - 2
6-27925687-A-C c.669A>C p.R223= Synonymous 1/1 - 1
6-27925688-G-A c.670G>A p.A224T Missense 1/1 - 2
6-27925691-G-C c.673G>C p.V225L Missense 1/1 - 2
6-27925691-G-T c.673G>T p.V225L Missense 1/1 - 1
6-27925692-T-C c.674T>C p.V225A Missense 1/1 - 5
6-27925693-A-G c.675A>G p.V225= Synonymous 1/1 - 1
6-27925695-T-C c.677T>C p.L226S Missense 1/1 - 1
6-27925700-A-G c.682A>G p.I228V Missense 1/1 - 2
6-27925706-T-C c.688T>C p.S230P Missense 1/1 - 1
6-27925709-G-T c.691G>T p.A231S Missense 1/1 - 1
6-27925710-C-T c.692C>T p.A231V Missense 1/1 - 1
6-27925710-C-CT c.693dup p.E232* Nonsense 1/1 - 1
6-27925712-G-A c.694G>A p.E232K Missense 1/1 - 7
6-27925715-G-A c.697G>A p.G233S Missense 1/1 - 2
6-27925716-G-T c.698G>T p.G233V Missense 1/1 - 1
6-27925718-C-G c.700C>G p.R234G Missense 1/1 - 1
6-27925718-C-T c.700C>T p.R234* Nonsense 1/1 - 2
6-27925719-G-A c.701G>A p.R234Q Missense 1/1 - 6
6-27925721-C-T c.703C>T p.Q235* Nonsense 1/1 - 2
6-27925725-A-G c.707A>G p.K236R Missense 1/1 - 1
6-27925726-A-C c.708A>C p.K236N Missense 1/1 - 1
6-27925726-A-T c.708A>T p.K236N Missense 1/1 - 1
6-27925734-G-T c.716G>T p.G239V Missense 1/1 - 1
6-27925735-G-A c.717G>A p.G239= Synonymous 1/1 - 1
6-27925735-G-C c.717G>C p.G239= Synonymous 1/1 - 1
6-27925735-G-T c.717G>T p.G239= Synonymous 1/1 - 1
6-27925736-A-G c.718A>G p.T240A Missense 1/1 - 1
6-27925745-T-C c.727T>C p.S243P Missense 1/1 - 1
6-27925745-TTCCC-T c.727_730del p.S243Ifs*2 Frameshift 1/1 - 1
6-27925746-C-T c.728C>T p.S243F Missense 1/1 - 3
6-27925748-C-T c.730C>T p.H244Y Missense 1/1 - 1
6-27925749-A-G c.731A>G p.H244R Missense 1/1 - 1
6-27925750-ATCTAATTGTGGTGT-A c.732_745del p.L245Sfs*4 Frameshift 1/1 - 1
6-27925751-C-G c.733C>G p.L245V Missense 1/1 - 1
6-27925751-CT-TC c.733_734delinsTC p.L245S Missense 1/1 - 1
6-27925755-T-C c.737T>C p.I246T Missense 1/1 - 1
6-27925755-T-G c.737T>G p.I246S Missense 1/1 - 1
6-27925756-T-C c.738T>C p.I246= Synonymous 1/1 - 1
6-27925759-G-A c.741G>A p.V247= Synonymous 1/1 - 1
6-27925760-G-A c.742G>A p.V248M Missense 1/1 - 2
6-27925762-G-T c.744G>T p.V248= Synonymous 1/1 - 1
6-27925765-T-A c.747T>A p.S249= Synonymous 1/1 - 2
6-27925765-T-C c.747T>C p.S249= Synonymous 1/1 - 3
6-27925765-T-G c.747T>G p.S249= Synonymous 1/1 - 2
6-27925766-C-T c.748C>T p.L250F Missense 1/1 - 2
6-27925768-T-G c.750T>G p.L250= Synonymous 1/1 - 1
6-27925771-T-C c.753T>C p.F251= Synonymous 1/1 - 2
6-27925772-T-A c.754T>A p.Y252N Missense 1/1 - 1
6-27925772-T-C c.754T>C p.Y252H Missense 1/1 - 1
6-27925774-T-C c.756T>C p.Y252= Synonymous 1/1 - 1
6-27925776-G-A c.758G>A p.S253N Missense 1/1 - 1
6-27925777-T-G c.759T>G p.S253R Missense 1/1 - 1
6-27925783-C-T c.765C>T p.A255= Synonymous 1/1 - 1
6-27925784-G-A c.766G>A p.V256I Missense 1/1 - 4
6-27925784-G-GT c.767dup p.S257Lfs*37 Frameshift 1/1 - 1
6-27925786-C-T c.768C>T p.V256= Synonymous 1/1 - 3
6-27925788-C-T c.770C>T p.S257F Missense 1/1 - 6
6-27925790-G-A c.772G>A p.V258M Missense 1/1 - 1
6-27925791-T-C c.773T>C p.V258A Missense 1/1 - 1
6-27925793-T-C c.775T>C p.Y259H Missense 1/1 - 2
6-27925794-A-G c.776A>G p.Y259C Missense 1/1 - 3
6-27925796-C-T c.778C>T p.L260= Synonymous 1/1 - 1
6-27925798-G-A c.780G>A p.L260= Synonymous 1/1 - 1
6-27925798-G-C c.780G>C p.L260= Synonymous 1/1 - 1
6-27925798-G-T c.780G>T p.L260= Synonymous 1/1 - 1
6-27925799-C-A c.781C>A p.Q261K Missense 1/1 - 1
6-27925799-C-T c.781C>T p.Q261* Nonsense 1/1 - 3
6-27925800-A-C c.782A>C p.Q261P Missense 1/1 - 1
6-27925801-A-C c.783A>C p.Q261H Missense 1/1 - 1
6-27925801-A-T c.783A>T p.Q261H Missense 1/1 - 1
6-27925804-A-G c.786A>G p.P262= Synonymous 1/1 - 1
6-27925809-C-G c.791C>G p.S264W Missense 1/1 - 1
6-27925809-C-T c.791C>T p.S264L Missense 1/1 - 9
6-27925810-G-A c.792G>A p.S264= Synonymous 1/1 - 2
6-27925810-G-C c.792G>C p.S264= Synonymous 1/1 - 1
6-27925810-G-T c.792G>T p.S264= Synonymous 1/1 - 2
6-27925816-C-T c.798C>T p.S266= Synonymous 1/1 - 2
6-27925818-C-T c.800C>T p.S267F Missense 1/1 - 4
6-27925819-C-T c.801C>T p.S267= Synonymous 1/1 - 1
6-27925821-A-G c.803A>G p.K268R Missense 1/1 - 1
6-27925822-G-C c.804G>C p.K268N Missense 1/1 - 1
6-27925823-G-A c.805G>A p.D269N Missense 1/1 - 1
6-27925823-G-C c.805G>C p.D269H Missense 1/1 - 2
6-27925824-A-G c.806A>G p.D269G Missense 1/1 - 1
6-27925825-C-A c.807C>A p.D269E Missense 1/1 - 1
6-27925826-C-A c.808C>A p.Q270K Missense 1/1 - 1
6-27925827-A-G c.809A>G p.Q270R Missense 1/1 - 10
6-27925828-A-G c.810A>G p.Q270= Synonymous 1/1 - 1
6-27925829-G-A c.811G>A p.G271R Missense 1/1 - 3
6-27925830-G-A c.812G>A p.G271E Missense 1/1 - 2
6-27925834-G-C c.816G>C p.K272N Missense 1/1 - 2
6-27925834-G-T c.816G>T p.K272N Missense 1/1 - 2
6-27925835-A-C c.817A>C p.M273L Missense 1/1 - 1
6-27925837-G-A c.819G>A p.M273I Missense 1/1 - 1
6-27925839-T-C c.821T>C p.V274A Missense 1/1 - 1
6-27925842-C-A c.824C>A p.S275Y Missense 1/1 - 1
6-27925844-C-T c.826C>T p.L276F Missense 1/1 - 2
6-27925849-C-G c.831C>G p.F277L Missense 1/1 - 1
6-27925849-TC-T c.831del p.Y278Mfs*8 Frameshift 1/1 - 2
6-27925851-A-G c.833A>G p.Y278C Missense 1/1 - 1
6-27925852-T-C c.834T>C p.Y278= Synonymous 1/1 - 2
6-27925861-T-G c.843T>G p.I281M Missense 1/1 - 1
6-27925863-C-T c.845C>T p.A282V Missense 1/1 - 1
6-27925866-C-A c.848C>A p.P283H Missense 1/1 - 1
6-27925866-C-T c.848C>T p.P283L Missense 1/1 - 2
6-27925874-A-G c.856A>G p.N286D Missense 1/1 - 1
6-27925875-A-G c.857A>G p.N286S Missense 1/1 - 1
6-27925877-C-T c.859C>T p.P287S Missense 1/1 - 2
6-27925878-C-T c.860C>T p.P287L Missense 1/1 - 1
6-27925879-C-T c.861C>T p.P287= Synonymous 1/1 - 1
6-27925880-C-T c.862C>T p.L288F Missense 1/1 - 2
6-27925884-T-C c.866T>C p.I289T Missense 1/1 - 1
6-27925885-A-G c.867A>G p.I289M Missense 1/1 - 1
6-27925887-A-G c.869A>G p.Y290C Missense 1/1 - 1
6-27925891-A-C c.873A>C p.T291= Synonymous 1/1 - 1
6-27925892-C-T c.874C>T p.L292F Missense 1/1 - 2
6-27925894-T-A c.876T>A p.L292= Synonymous 1/1 - 1
6-27925894-T-C c.876T>C p.L292= Synonymous 1/1 - 1
6-27925894-T-G c.876T>G p.L292= Synonymous 1/1 - 1
6-27925895-AGG-CAT c.877_879delinsCAT p.R293H Missense 1/1 - 1
6-27925895-A-C c.877A>C p.R293= Synonymous 1/1 - 3
6-27925897-G-A c.879G>A p.R293= Synonymous 1/1 - 7
6-27925899-A-G c.881A>G p.N294S Missense 1/1 - 1
6-27925900-C-A c.882C>A p.N294K Missense 1/1 - 2
6-27925900-C-T c.882C>T p.N294= Synonymous 1/1 - 1
6-27925903-G-A c.885G>A p.K295= Synonymous 1/1 - 1
6-27925906-G-C c.888G>C p.E296D Missense 1/1 - 1
6-27925906-G-T c.888G>T p.E296D Missense 1/1 - 1
6-27925907-G-C c.889G>C p.V297L Missense 1/1 - 1
6-27925907-G-T c.889G>T p.V297L Missense 1/1 - 1
6-27925909-A-G c.891A>G p.V297= Synonymous 1/1 - 1
6-27925912-G-A c.894G>A p.K298= Synonymous 1/1 - 1
6-27925915-A-C c.897A>C p.E299D Missense 1/1 - 1
6-27925916-G-A c.898G>A p.G300S Missense 1/1 - 2
6-27925917-G-C c.899G>C p.G300A Missense 1/1 - 1
6-27925917-G-T c.899G>T p.G300V Missense 1/1 - 1
6-27925920-T-C c.902T>C p.F301S Missense 1/1 - 1
6-27925926-G-T c.908G>T p.R303M Missense 1/1 - 1
6-27925928-T-C c.910T>C p.L304= Synonymous 1/1 - 3
6-27925930-G-A c.912G>A p.L304= Synonymous 1/1 - 1
6-27925930-G-T c.912G>T p.L304F Missense 1/1 - 1
6-27925931-G-T c.913G>T p.V305F Missense 1/1 - 1
6-27925932-T-C c.914T>C p.V305A Missense 1/1 - 1
6-27925939-GA-G c.921del p.V308Sfs*3 Frameshift 1/1 - 1
6-27925940-G-C c.922G>C p.V308L Missense 1/1 - 1
6-27925943-T-G c.925T>G p.F309V Missense 1/1 - 2
6-27925943-TTC-T c.927_928del p.L310Nfs*? Frameshift 1/1 - 1
6-27925948-A-C c.930A>C p.L310F Missense 1/1 - 1
6-27925949-A-T c.931A>T p.I311F Missense 1/1 - 2
6-27925951-C-A c.933C>A p.I311= Synonymous 1/1 - 2
6-27925951-C-T c.933C>T p.I311= Synonymous 1/1 - 1
6-27925952-A-G c.934A>G p.K312E Missense 1/1 - 1
6-27925952-A-T c.934A>T p.K312* Nonsense 1/1 - 1
6-27925953-A-T c.935A>T p.K312M Missense 1/1 - 1
6-27925954-G-A c.936G>A p.K312= Synonymous 1/1 - 2
6-27925956-A-T c.938A>T p.K313I Missense 1/1 - 1