HSF2

HSF2 heat shock transcription factor 2

Annotation transcript: NM_004506.4

466 unique variant annotations were identified in 211 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
6-122720806-G-A c.-77G>A - 5-UTRSNV 1/13 - 8
6-122720806-G-T c.-77G>T - 5-UTRSNV 1/13 - 8
6-122720869-G-T c.-14G>T - 5-UTRSNV 1/13 - 1
6-122720889-C-T c.7C>T p.Q3* Nonsense 1/13 - 1
6-122720891-G-C c.9G>C p.Q3H Missense 1/13 - 1
6-122720892-A-C c.10A>C p.S4R Missense 1/13 - 1
6-122720903-G-T c.21G>T p.V7= Synonymous 1/13 - 2
6-122720905-C-A c.23C>A p.P8Q Missense 1/13 - 1
6-122720907-G-A c.25G>A p.A9T Missense 1/13 - 2
6-122720910-T-C c.28T>C p.F10L Missense 1/13 - 1
6-122720912-C-A c.30C>A p.F10L Missense 1/13 - 1
6-122720912-C-G c.30C>G p.F10L Missense 1/13 - 1
6-122720919-AAG-TTT c.37_39delinsTTT p.K13F Missense 1/13 - 1
6-122720920-A-G c.38A>G p.K13R Missense 1/13 - 3
6-122720928-A-T c.46A>T p.T16S Missense 1/13 - 1
6-122720934-G-C c.52G>C p.V18L Missense 1/13 - 1
6-122720934-G-T c.52G>T p.V18L Missense 1/13 - 1
6-122720937-G-C c.55G>C p.E19Q Missense 1/13 - 3
6-122720938-A-C c.56A>C p.E19A Missense 1/13 - 1
6-122720943-A-G c.61A>G p.T21A Missense 1/13 - 1
6-122720944-C-T c.62C>T p.T21I Missense 1/13 - 1
6-122720949-A-C c.67A>C p.T23P Missense 1/13 - 1
6-122720949-A-G c.67A>G p.T23A Missense 1/13 - 1
6-122720950-C-A c.68C>A p.T23N Missense 1/13 - 1
6-122720958-T-C c.76T>C p.F26L Missense 1/13 - 2
6-122720968-G-A c.86G>A p.W29* Nonsense 1/13 - 1
6-122720969-G-A c.87G>A p.W29* Nonsense 1/13 - 1
6-122720973-C-A c.91C>A p.Q31K Missense 1/13 - 1
6-122720980-G-T c.93+5G>T - IntronicSNV - 1/12 1
6-122721510-A-G c.93+535A>G - IntronicSNV - 1/12 3
6-122733507-T-C c.94-11T>C - IntronicSNV - 1/12 1
6-122733526-A-C c.102A>C p.Q34H Missense 2/13 - 1
6-122733526-A-G c.102A>G p.Q34= Synonymous 2/13 - 2
6-122733528-G-A c.104G>A p.S35N Missense 2/13 - 2
6-122733530-T-G c.106T>G p.F36V Missense 2/13 - 2
6-122733533-C-G c.109C>G p.L37V Missense 2/13 - 1
6-122733535-G-A c.111G>A p.L37= Synonymous 2/13 - 1
6-122733542-G-A c.118G>A p.D40N Missense 2/13 - 1
6-122733543-A-C c.119A>C p.D40A Missense 2/13 - 1
6-122733543-A-G c.119A>G p.D40G Missense 2/13 - 1
6-122733546-A-G c.122A>G p.E41G Missense 2/13 - 1
6-122733547-G-C c.123G>C p.E41D Missense 2/13 - 1
6-122733547-G-T c.123G>T p.E41D Missense 2/13 - 1
6-122733552-G-A c.128G>A p.R43Q Missense 2/13 - 3
6-122733552-G-T c.128G>T p.R43L Missense 2/13 - 4
6-122733556-T-C c.132T>C p.F44= Synonymous 2/13 - 1
6-122733558-C-T c.134C>T p.A45V Missense 2/13 - 1
6-122733564-A-C c.140A>C p.E47A Missense 2/13 - 1
6-122733569-C-T c.145C>T p.L49F Missense 2/13 - 1
6-122733576-A-G c.152A>G p.K51R Missense 2/13 - 1
6-122733588-A-G c.164A>G p.H55R Missense 2/13 - 1
6-122733593-A-C c.169A>C p.N57H Missense 2/13 - 1
6-122733594-A-G c.170A>G p.N57S Missense 2/13 - 1
6-122733596-A-G c.172A>G p.M58V Missense 2/13 - 1
6-122733600-C-T c.176C>T p.A59V Missense 2/13 - 1
6-122733602-A-G c.178A>G p.S60G Missense 2/13 - 2
6-122733605-T-A c.181T>A p.F61I Missense 2/13 - 1
6-122733609-T-G c.185T>G p.V62G Missense 2/13 - 1
6-122733610-G-A c.186G>A p.V62= Synonymous 2/13 - 1
6-122733610-G-C c.186G>C p.V62= Synonymous 2/13 - 1
6-122733610-G-T c.186G>T p.V62= Synonymous 2/13 - 1
6-122733611-A-G c.187A>G p.R63G Missense 2/13 - 1
6-122733611-AG-CA c.187_188delinsCA p.R63Q Missense 2/13 - 1
6-122733611-AG-GC c.187_188delinsGC p.R63A Missense 2/13 - 1
6-122733612-G-C c.188G>C p.R63T Missense 2/13 - 1
6-122733613-G-T c.189G>T p.R63S Missense 2/13 - 1
6-122733617-C-G c.193C>G p.L65V Missense 2/13 - 1
6-122733617-C-T c.193C>T p.L65= Synonymous 2/13 - 2
6-122733619-G-A c.195G>A p.L65= Synonymous 2/13 - 2
6-122733619-G-C c.195G>C p.L65= Synonymous 2/13 - 1
6-122733619-G-T c.195G>T p.L65= Synonymous 2/13 - 1
6-122733783-T-A c.204T>A p.Y68* Nonsense 3/13 - 1
6-122733783-T-G c.204T>G p.Y68* Nonsense 3/13 - 1
6-122733789-C-T c.210C>T p.F70= Synonymous 3/13 - 2
6-122733790-C-T c.211C>T p.R71C Missense 3/13 - 6
6-122733804-T-C c.225T>C p.H75= Synonymous 3/13 - 3
6-122733812-C-G c.233C>G p.S78C Missense 3/13 - 1
6-122733813-T-G c.234T>G p.S78= Synonymous 3/13 - 1
6-122733823-A-T c.244A>T p.K82* Nonsense 3/13 - 1
6-122733824-A-G c.245A>G p.K82R Missense 3/13 - 4
6-122733825-G-A c.246G>A p.K82= Synonymous 3/13 - 1
6-122733826-C-G c.247C>G p.Q83E Missense 3/13 - 1
6-122733827-A-C c.248A>C p.Q83P Missense 3/13 - 1
6-122733833-G-A c.254G>A p.R85K Missense 3/13 - 1
6-122733833-G-T c.254G>T p.R85I Missense 3/13 - 2
6-122733838-G-A c.259G>A p.G87S Missense 3/13 - 3
6-122733841-CC-GA c.262_263delinsGA p.P88D Missense 3/13 - 1
6-122733844-GT-AC c.265_266inv p.V89T Missense 3/13 - 1
6-122733847-G-A c.268G>A p.E90K Missense 3/13 - 1
6-122733847-G-T c.268G>T p.E90* Nonsense 3/13 - 4
6-122733860-C-T c.281C>T p.P94L Missense 3/13 - 3
6-122733865-T-C c.286T>C p.F96L Missense 3/13 - 2
6-122733867-C-A c.288C>A p.F96L Missense 3/13 - 2
6-122733867-C-G c.288C>G p.F96L Missense 3/13 - 4
6-122733874-G-T c.295G>T p.G99* Nonsense 3/13 - 2
6-122733875-G-A c.296G>A p.G99E Missense 3/13 - 2
6-122733878-A-T c.299A>T p.Q100L Missense 3/13 - 2
6-122733880-G-A c.301G>A p.D101N Missense 3/13 - 6
6-122733884-A-G c.305A>G p.D102G Missense 3/13 - 2
6-122733889-T-A c.310T>A p.L104M Missense 3/13 - 1
6-122733893-A-T c.314A>T p.E105V Missense 3/13 - 2
6-122733896-A-C c.317A>C p.N106T Missense 3/13 - 1
6-122733900-T-G c.321T>G p.I107M Missense 3/13 - 2
6-122734675-A-T c.336A>T p.S112= Synonymous 4/13 - 1
6-122734678-T-A c.339T>A p.S113= Synonymous 4/13 - 1
6-122734678-T-C c.339T>C p.S113= Synonymous 4/13 - 1
6-122734678-T-G c.339T>G p.S113= Synonymous 4/13 - 1
6-122734685-C-T c.346C>T p.P116S Missense 4/13 - 1
6-122734703-C-T c.364C>T p.R122C Missense 4/13 - 15
6-122734712-G-A c.373G>A p.D125N Missense 4/13 - 1
6-122734712-G-T c.373G>T p.D125Y Missense 4/13 - 1
6-122734715-T-A c.376T>A p.L126I Missense 4/13 - 1
6-122734717-A-C c.378A>C p.L126F Missense 4/13 - 1
6-122734717-A-T c.378A>T p.L126F Missense 4/13 - 1
6-122734739-C-T c.400C>T p.Q134* Nonsense 4/13 - 1
6-122734741-G-A c.402G>A p.Q134= Synonymous 4/13 - 1
6-122734741-G-C c.402G>C p.Q134H Missense 4/13 - 1
6-122734741-G-T c.402G>T p.Q134H Missense 4/13 - 1
6-122734749-A-T c.410A>T p.Q137L Missense 4/13 - 1
6-122734755-A-G c.416A>G p.K139R Missense 4/13 - 3
6-122734760-G-A c.421G>A p.E141K Missense 4/13 - 1
6-122734774-C-T c.435C>T p.S145= Synonymous 4/13 - 2
6-122734777-G-A c.438G>A p.R146= Synonymous 4/13 - 1
6-122734791-A-G c.452A>G p.K151R Missense 4/13 - 3
6-122734972-G-A c.455+178G>A - IntronicSNV - 4/12 3
6-122735690-G-T c.455+896G>T - IntronicSNV - 4/12 1
6-122737104-A-G c.456-262A>G - IntronicSNV - 4/12 1
6-122737327-T-C c.456-39T>C - IntronicSNV - 4/12 1
6-122737363-TAGTG-T c.456_459del p.S152Rfs*40 SpliceAcceptorDeletion 5/13 - 1
6-122737367-G-C c.457G>C p.E153Q Missense 5/13 - 2
6-122737369-G-C c.459G>C p.E153D Missense 5/13 - 1
6-122737369-G-T c.459G>T p.E153D Missense 5/13 - 1
6-122737373-G-T c.463G>T p.E155* Nonsense 5/13 - 1
6-122737378-C-G c.468C>G p.S156= Synonymous 5/13 - 2
6-122737379-C-T c.469C>T p.L157F Missense 5/13 - 3
6-122737395-C-A c.485C>A p.S162* Nonsense 5/13 - 2
6-122737395-CA-TT c.485_486delinsTT p.S162F Missense 5/13 - 2
6-122737399-A-G c.489A>G p.E163= Synonymous 5/13 - 1
6-122737416-C-A c.506C>A p.A169E Missense 5/13 - 1
6-122737417-A-T c.507A>T p.A169= Synonymous 5/13 - 1
6-122737423-G-A c.513G>A p.Q171= Synonymous 5/13 - 2
6-122737427-C-A c.517C>A p.Q173K Missense 5/13 - 1
6-122737436-C-A c.526C>A p.R176= Synonymous 5/13 - 1
6-122737436-C-T c.526C>T p.R176* Nonsense 5/13 - 2
6-122737438-A-C c.528A>C p.R176= Synonymous 5/13 - 1
6-122737438-A-G c.528A>G p.R176= Synonymous 5/13 - 1
6-122737438-A-T c.528A>T p.R176= Synonymous 5/13 - 1
6-122737437-G-A c.527G>A p.R176Q Missense 5/13 - 1
6-122737439-AA-GC c.529_530delinsGC p.K177A Missense 5/13 - 1
6-122737441-G-T c.531G>T p.K177N Missense 5/13 - 1
6-122737557-A-T c.531+116A>T - IntronicSNV - 5/12 1
6-122737659-G-T c.531+218G>T - IntronicSNV - 5/12 1
6-122738269-G-A c.531+828G>A - IntronicSNV - 5/12 1
6-122738309-A-T c.531+868A>T - IntronicSNV - 5/12 1
6-122740000-T-A c.532-313T>A - IntronicSNV - 5/12 1
6-122740319-CA-GC c.538_539delinsGC p.Q180A Missense 6/13 - 1
6-122740322-TT-GC c.541_542delinsGC p.F181A Missense 6/13 - 1
6-122740323-T-A c.542T>A p.F181Y Missense 6/13 - 1
6-122740328-G-A c.547G>A p.V183I Missense 6/13 - 1
6-122740329-T-C c.548T>C p.V183A Missense 6/13 - 1
6-122740338-T-C c.557T>C p.V186A Missense 6/13 - 1
6-122740349-C-A c.568C>A p.Q190K Missense 6/13 - 1
6-122740353-T-G c.572T>G p.L191R Missense 6/13 - 2
6-122740355-G-C c.574G>C p.V192L Missense 6/13 - 1
6-122740355-G-T c.574G>T p.V192L Missense 6/13 - 1
6-122740367-C-T c.586C>T p.R196C Missense 6/13 - 1
6-122740368-G-A c.587G>A p.R196H Missense 6/13 - 1
6-122740369-T-C c.588T>C p.R196= Synonymous 6/13 - 1
6-122740374-G-A c.593G>A p.R198K Missense 6/13 - 1
6-122740376-T-C c.593+2T>C - IntronicSNV - 6/12 1
6-122740393-G-A c.593+19G>A - IntronicSNV - 6/12 1
6-122740405-G-A c.593+31G>A - IntronicSNV - 6/12 1
6-122740474-G-T c.593+100G>T - IntronicSNV - 6/12 1
6-122741272-G-A c.594-8G>A - IntronicSNV - 6/12 1
6-122741272-G-C c.594-8G>C - IntronicSNV - 6/12 1
6-122740373-A-C c.592A>C p.R198= Synonymous 6/13 - 1
6-122741280-G-A c.594G>A p.R198= Synonymous 7/13 - 2
6-122741282-C-T c.596C>T p.P199L Missense 7/13 - 1
6-122741284-CTA-TTT c.598_600delinsTTT p.L200F Missense 7/13 - 1
6-122741289-T-A c.603T>A p.L201= Synonymous 7/13 - 2
6-122741289-T-C c.603T>C p.L201= Synonymous 7/13 - 2
6-122741289-T-G c.603T>G p.L201= Synonymous 7/13 - 3
6-122741296-A-G c.610A>G p.T204A Missense 7/13 - 1
6-122741297-C-T c.611C>T p.T204I Missense 7/13 - 6
6-122741301-T-A c.615T>A p.N205K Missense 7/13 - 1
6-122741301-T-G c.615T>G p.N205K Missense 7/13 - 1
6-122741302-G-T c.616G>T p.G206* Nonsense 7/13 - 1
6-122741304-A-C c.618A>C p.G206= Synonymous 7/13 - 2
6-122741304-A-T c.618A>T p.G206= Synonymous 7/13 - 1
6-122741306-C-A c.620C>A p.A207D Missense 7/13 - 1
6-122741310-A-AT c.624_625insT p.K209* Nonsense 7/13 - 1
6-122741310-A-C c.624A>C p.Q208H Missense 7/13 - 1
6-122741310-A-T c.624A>T p.Q208H Missense 7/13 - 1
6-122741310-A-AAC c.625_626insCA p.K209Tfs*9 Frameshift 7/13 - 1
6-122741312-AAGAAGAACCTGTTT-A c.626_639del p.K209Tfs*9 Frameshift 7/13 - 1
6-122741319-C-T c.633C>T p.N211= Synonymous 7/13 - 1
6-122741326-C-T c.640C>T p.Q214* Nonsense 7/13 - 3
6-122741329-C-T c.643C>T p.H215Y Missense 7/13 - 1
6-122741330-A-G c.644A>G p.H215R Missense 7/13 - 1
6-122741334-A-G c.648A>G p.I216M Missense 7/13 - 3
6-122741341-G-A c.655G>A p.E219K Missense 7/13 - 4
6-122741341-G-T c.655G>T p.E219* Nonsense 7/13 - 2
6-122741351-A-G c.665A>G p.D222G Missense 7/13 - 1
6-122741351-A-T c.665A>T p.D222V Missense 7/13 - 1
6-122741353-A-C c.667A>C p.N223H Missense 7/13 - 1
6-122741354-A-T c.668A>T p.N223I Missense 7/13 - 2
6-122741356-C-T c.670C>T p.H224Y Missense 7/13 - 1
6-122741359-C-T c.673C>T p.H225Y Missense 7/13 - 1
6-122741441-T-A c.681+74T>A - IntronicSNV - 7/12 1
6-122742231-C-T c.681+864C>T - IntronicSNV - 7/12 1
6-122742375-A-G c.682-920A>G - IntronicSNV - 7/12 1
6-122742375-A-T c.682-920A>T - IntronicSNV - 7/12 1
6-122743304-AG-TT c.691_692delinsTT p.S231F Missense 8/13 - 2
6-122743308-G-A c.695G>A p.R232K Missense 8/13 - 1
6-122743309-G-C c.696G>C p.R232S Missense 8/13 - 1
6-122743309-G-T c.696G>T p.R232S Missense 8/13 - 2
6-122743311-C-A c.698C>A p.T233N Missense 8/13 - 1
6-122743311-C-T c.698C>T p.T233I Missense 8/13 - 1
6-122743313-G-A c.700G>A p.E234K Missense 8/13 - 1
6-122743317-G-T c.704G>T p.G235V Missense 8/13 - 1
6-122743326-C-A c.713C>A p.P238Q Missense 8/13 - 1
6-122743329-G-C c.716G>C p.R239T Missense 8/13 - 2
6-122743330-G-A c.717G>A p.R239= Synonymous 8/13 - 1
6-122743330-G-C c.717G>C p.R239S Missense 8/13 - 1
6-122743330-G-T c.717G>T p.R239S Missense 8/13 - 3
6-122743335-G-C c.722G>C p.R241T Missense 8/13 - 1
6-122743335-G-T c.722G>T p.R241M Missense 8/13 - 2
6-122743334-A-AG c.723dup p.I242Dfs*4 Frameshift 8/13 - 1
6-122743336-G-T c.723G>T p.R241S Missense 8/13 - 1
6-122743348-C-A c.735C>A p.D245E Missense 8/13 - 1
6-122743361-G-T c.748G>T p.D250Y Missense 8/13 - 3
6-122743368-C-T c.755C>T p.T252I Missense 8/13 - 2
6-122743373-G-A c.760G>A p.D254N Missense 8/13 - 1
6-122743385-G-A c.772G>A p.E258K Missense 8/13 - 1
6-122743394-A-C c.781A>C p.I261L Missense 8/13 - 1
6-122743397-C-T c.784C>T p.P262S Missense 8/13 - 2
6-122743400-G-A c.787G>A p.V263I Missense 8/13 - 1
6-122743400-G-T c.787G>T p.V263F Missense 8/13 - 1
6-122743406-C-T c.793C>T p.P265S Missense 8/13 - 1
6-122743407-C-T c.794C>T p.P265L Missense 8/13 - 1
6-122743411-A-C c.798A>C p.E266D Missense 8/13 - 1
6-122743411-A-T c.798A>T p.E266D Missense 8/13 - 1
6-122743412-A-G c.799A>G p.T267A Missense 8/13 - 1
6-122743417-T-A c.804T>A p.N268K Missense 8/13 - 1
6-122743417-T-G c.804T>G p.N268K Missense 8/13 - 6
6-122743421-G-A c.808G>A p.D270N Missense 8/13 - 1
6-122743424-G-A c.811G>A p.V271I Missense 8/13 - 2
6-122743425-T-C c.812T>C p.V271A Missense 8/13 - 1
6-122743435-T-C c.822T>C p.D274= Synonymous 8/13 - 1
6-122743440-C-G c.827C>G p.S276C Missense 8/13 - 5
6-122743502-T-A c.830+59T>A - IntronicSNV - 8/12 3
6-122743502-T-C c.830+59T>C - IntronicSNV - 8/12 4
6-122743686-A-G c.831-177A>G - IntronicSNV - 8/12 1
6-122743686-A-T c.831-177A>T - IntronicSNV - 8/12 1
6-122743693-A-G c.831-170A>G - IntronicSNV - 8/12 1
6-122743864-T-G c.832T>G p.C278G Missense 9/13 - 1
6-122743865-G-T c.833G>T p.C278F Missense 9/13 - 3
6-122743866-T-C c.834T>C p.C278= Synonymous 9/13 - 1
6-122743871-A-C c.839A>C p.Q280P Missense 9/13 - 2
6-122743876-C-T c.844C>T p.P282S Missense 9/13 - 2
6-122743890-C-T c.858C>T p.I286= Synonymous 9/13 - 2
6-122743891-G-A c.859G>A p.V287I Missense 9/13 - 2
6-122743900-GAC-ATG c.868_870delinsATG p.D290M Missense 9/13 - 1
6-122743906-GA-AC c.874_875delinsAC p.E292T Missense 9/13 - 1
6-122743906-GA-AT c.874_875delinsAT p.E292I Missense 9/13 - 1
6-122743913-A-C c.881A>C p.E294A Missense 9/13 - 1
6-122743919-C-T c.887C>T p.A296V Missense 9/13 - 1
6-122743926-C-T c.894C>T p.V298= Synonymous 9/13 - 1
6-122743927-A-G c.895A>G p.I299V Missense 9/13 - 1
6-122743929-T-A c.897T>A p.I299= Synonymous 9/13 - 1
6-122743929-T-C c.897T>C p.I299= Synonymous 9/13 - 1
6-122743932-G-A c.900G>A p.Q300= Synonymous 9/13 - 2
6-122743945-A-G c.913A>G p.N305D Missense 9/13 - 1
6-122743948-G-T c.916G>T p.E306* Nonsense 9/13 - 1
6-122743951-C-T c.919C>T p.P307S Missense 9/13 - 2
6-122743953-A-C c.921A>C p.P307= Synonymous 9/13 - 1
6-122743953-A-G c.921A>G p.P307= Synonymous 9/13 - 1
6-122743953-A-T c.921A>T p.P307= Synonymous 9/13 - 1
6-122743954-G-A c.922G>A p.A308T Missense 9/13 - 1
6-122743960-G-A c.928G>A p.E310K Missense 9/13 - 2
6-122743964-C-T c.932C>T p.S311F Missense 9/13 - 1
6-122743965-C-A c.933C>A p.S311= Synonymous 9/13 - 1
6-122743965-C-G c.933C>G p.S311= Synonymous 9/13 - 1
6-122743965-C-T c.933C>T p.S311= Synonymous 9/13 - 1
6-122743976-G-A c.944G>A p.G315D Missense 9/13 - 1
6-122743976-G-T c.944G>T p.G315V Missense 9/13 - 1
6-122743990-A-G c.958A>G p.S320G Missense 9/13 - 1
6-122743994-C-T c.962C>T p.P321L Missense 9/13 - 1
6-122743998-C-A c.966C>A p.L322= Synonymous 9/13 - 1
6-122743998-C-G c.966C>G p.L322= Synonymous 9/13 - 1
6-122743998-C-T c.966C>T p.L322= Synonymous 9/13 - 1
6-122743999-A-G c.967A>G p.M323V Missense 9/13 - 1
6-122744001-G-A c.969G>A p.M323I Missense 9/13 - 1
6-122744001-G-C c.969G>C p.M323I Missense 9/13 - 1
6-122744001-G-T c.969G>T p.M323I Missense 9/13 - 1
6-122744005-A-T c.973A>T p.S325C Missense 9/13 - 5
6-122744006-G-T c.974G>T p.S325I Missense 9/13 - 2
6-122744017-C-T c.985C>T p.L329= Synonymous 9/13 - 1
6-122744019-A-C c.987A>C p.L329= Synonymous 9/13 - 1
6-122744019-A-G c.987A>G p.L329= Synonymous 9/13 - 1
6-122744019-A-T c.987A>T p.L329= Synonymous 9/13 - 1
6-122744026-T-C c.994T>C p.S332P Missense 9/13 - 1
6-122744030-C-T c.998C>T p.S333F Missense 9/13 - 1
6-122744038-A-G c.1006A>G p.T336A Missense 9/13 - 1
6-122744040-C-A c.1008C>A p.T336= Synonymous 9/13 - 4
6-122744040-C-G c.1008C>G p.T336= Synonymous 9/13 - 2
6-122744040-C-T c.1008C>T p.T336= Synonymous 9/13 - 2
6-122744044-G-A c.1012G>A p.E338K Missense 9/13 - 1
6-122744050-C-T c.1018C>T p.P340S Missense 9/13 - 1
6-122744053-G-A c.1021G>A p.V341M Missense 9/13 - 1
6-122744061-G-A c.1029G>A p.M343I Missense 9/13 - 1
6-122744061-G-C c.1029G>C p.M343I Missense 9/13 - 1
6-122744061-G-T c.1029G>T p.M343I Missense 9/13 - 1
6-122744064-G-A c.1032G>A p.M344I Missense 9/13 - 2
6-122744064-G-C c.1032G>C p.M344I Missense 9/13 - 2
6-122744064-G-T c.1032G>T p.M344I Missense 9/13 - 2
6-122744065-G-A c.1033G>A p.D345N Missense 9/13 - 3
6-122744072-T-G c.1040T>G p.I347S Missense 9/13 - 1
6-122744076-G-A c.1044G>A p.L348= Synonymous 9/13 - 1
6-122744078-A-T c.1046A>T p.N349I Missense 9/13 - 6
6-122744098-G-T c.1066G>T p.G356* Nonsense 9/13 - 3
6-122744099-G-A c.1067G>A p.G356E Missense 9/13 - 4
6-122744741-T-A c.1086T>A p.D362E Missense 10/13 - 1
6-122744741-T-G c.1086T>G p.D362E Missense 10/13 - 1
6-122744744-T-C c.1089T>C p.Y363= Synonymous 10/13 - 1
6-122744757-G-C c.1102G>C p.D368H Missense 10/13 - 3
6-122744766-T-G c.1111T>G p.L371V Missense 10/13 - 2
6-122744769-G-A c.1114G>A p.E372K Missense 10/13 - 2
6-122744769-G-C c.1114G>C p.E372Q Missense 10/13 - 1
6-122744775-T-C c.1120T>C p.F374L Missense 10/13 - 1
6-122744777-C-A c.1122C>A p.F374L Missense 10/13 - 1
6-122744777-C-G c.1122C>G p.F374L Missense 10/13 - 1
6-122744777-C-T c.1122C>T p.F374= Synonymous 10/13 - 1
6-122744779-A-C c.1124A>C p.Q375P Missense 10/13 - 2
6-122744782-C-T c.1127C>T p.A376V Missense 10/13 - 1
6-122744787-C-G c.1132C>G p.L378V Missense 10/13 - 1
6-122744787-C-T c.1132C>T p.L378= Synonymous 10/13 - 1
6-122744789-A-C c.1134A>C p.L378= Synonymous 10/13 - 1
6-122744789-A-G c.1134A>G p.L378= Synonymous 10/13 - 1
6-122744789-A-T c.1134A>T p.L378= Synonymous 10/13 - 1
6-122744791-C-T c.1136C>T p.S379L Missense 10/13 - 5
6-122744792-A-C c.1137A>C p.S379= Synonymous 10/13 - 1
6-122744792-A-G c.1137A>G p.S379= Synonymous 10/13 - 1
6-122744792-A-T c.1137A>T p.S379= Synonymous 10/13 - 1
6-122744794-G-A c.1139G>A p.G380E Missense 10/13 - 1
6-122744794-G-T c.1139G>T p.G380V Missense 10/13 - 1
6-122744796-AGA-TGG c.1141_1143delinsTGG p.R381W Missense 10/13 - 1
6-122744823-CTG-ATC c.1168_1170delinsATC p.L390I Missense 10/13 - 1
6-122744830-A-T c.1175A>T p.D392V Missense 10/13 - 1
6-122745009-A-G c.1176+178A>G - IntronicSNV - 10/12 2
6-122749048-C-T c.1177C>T p.L393F Missense 11/13 - 1
6-122749050-T-A c.1179T>A p.L393= Synonymous 11/13 - 1
6-122749050-T-C c.1179T>C p.L393= Synonymous 11/13 - 1
6-122749050-T-G c.1179T>G p.L393= Synonymous 11/13 - 1
6-122749064-T-C c.1193T>C p.V398A Missense 11/13 - 1
6-122749067-A-G c.1196A>G p.Q399R Missense 11/13 - 1
6-122749075-C-T c.1204C>T p.P402S Missense 11/13 - 1
6-122749076-C-T c.1205C>T p.P402L Missense 11/13 - 1
6-122749077-C-A c.1206C>A p.P402= Synonymous 11/13 - 1
6-122749077-C-G c.1206C>G p.P402= Synonymous 11/13 - 1
6-122749077-C-T c.1206C>T p.P402= Synonymous 11/13 - 1
6-122749084-T-A c.1213T>A p.Y405N Missense 11/13 - 3
6-122749091-A-T c.1220A>T p.N407I Missense 11/13 - 4
6-122749096-A-T c.1225A>T p.T409S Missense 11/13 - 1
6-122749099-AA-CT c.1228_1229delinsCT p.K410L Missense 11/13 - 1
6-122749099-A-T c.1228A>T p.K410* Nonsense 11/13 - 1
6-122749100-AA-GC c.1229_1230delinsGC p.K410S Missense 11/13 - 1
6-122749097-CA-C c.1230del p.K410Nfs*7 Frameshift 11/13 - 1
6-122749588-AT-A c.1230+497del - IntronicDeletion - 11/12 1
6-122752447-C-T c.1231-128C>T - IntronicSNV - 11/12 1
6-122752471-A-G c.1231-104A>G - IntronicSNV - 11/12 1
6-122752550-T-TTG c.1231-24_1231-23insGT - IntronicInsertion - 11/12 2
6-122752561-T-TA c.1231-14_1231-13insA - IntronicInsertion - 11/12 1
6-122752561-T-TATA c.1231-14_1231-13insATA - IntronicInsertion - 11/12 1
6-122752562-T-A c.1231-13T>A - IntronicSNV - 11/12 1
6-122752576-C-T c.1232C>T p.S411F Missense 12/13 - 2
6-122752580-G-C c.1236G>C p.E412D Missense 12/13 - 2
6-122752580-G-T c.1236G>T p.E412D Missense 12/13 - 6
6-122752584-A-G c.1240A>G p.K414E Missense 12/13 - 2
6-122752593-G-C c.1249G>C p.E417Q Missense 12/13 - 1
6-122752601-C-T c.1257C>T p.T419= Synonymous 12/13 - 1
6-122752604-G-C c.1260G>C p.K420N Missense 12/13 - 1
6-122752604-G-T c.1260G>T p.K420N Missense 12/13 - 4
6-122752606-A-C c.1262A>C p.N421T Missense 12/13 - 2
6-122752613-A-C c.1269A>C p.V423= Synonymous 12/13 - 1
6-122752613-A-G c.1269A>G p.V423= Synonymous 12/13 - 1
6-122752619-G-A c.1275G>A p.Q425= Synonymous 12/13 - 2
6-122752627-C-A c.1283C>A p.S428* Nonsense 12/13 - 1
6-122752627-C-G c.1283C>G p.S428W Missense 12/13 - 3
6-122752627-C-T c.1283C>T p.S428L Missense 12/13 - 4
6-122752638-AGA-CAT c.1294_1296delinsCAT p.R432H Missense 12/13 - 1
6-122752641-A-C c.1297A>C p.K433Q Missense 12/13 - 5
6-122752648-A-G c.1304A>G p.K435R Missense 12/13 - 1
6-122752652-C-T c.1308C>T p.S436= Synonymous 12/13 - 1
6-122752655-A-C c.1311A>C p.K437N Missense 12/13 - 1
6-122752655-A-T c.1311A>T p.K437N Missense 12/13 - 1
6-122752657-C-A c.1313C>A p.P438Q Missense 12/13 - 1
6-122752657-C-T c.1313C>T p.P438L Missense 12/13 - 1
6-122752829-G-A c.1315+170G>A - IntronicSNV - 12/12 1
6-122752829-G-T c.1315+170G>T - IntronicSNV - 12/12 1
6-122752829-G-GT c.1315+182dup - IntronicInsertion - 12/12 1
6-122753084-C-A c.1330C>A p.Q444K Missense 13/13 - 1
6-122753091-C-A c.1337C>A p.T446N Missense 13/13 - 2
6-122753091-C-T c.1337C>T p.T446I Missense 13/13 - 1
6-122753092-C-A c.1338C>A p.T446= Synonymous 13/13 - 2
6-122753092-C-G c.1338C>G p.T446= Synonymous 13/13 - 1
6-122753092-C-T c.1338C>T p.T446= Synonymous 13/13 - 2
6-122753095-C-A c.1341C>A p.A447= Synonymous 13/13 - 1
6-122753095-C-G c.1341C>G p.A447= Synonymous 13/13 - 1
6-122753095-C-T c.1341C>T p.A447= Synonymous 13/13 - 1
6-122753096-T-G c.1342T>G p.F448V Missense 13/13 - 4
6-122753116-C-G c.1362C>G p.L454= Synonymous 13/13 - 2
6-122753116-C-T c.1362C>T p.L454= Synonymous 13/13 - 5
6-122753118-A-G c.1364A>G p.D455G Missense 13/13 - 1
6-122753126-C-A c.1372C>A p.P458T Missense 13/13 - 1
6-122753127-C-A c.1373C>A p.P458H Missense 13/13 - 1
6-122753131-T-A c.1377T>A p.A459= Synonymous 13/13 - 1
6-122753131-T-C c.1377T>C p.A459= Synonymous 13/13 - 1
6-122753131-T-G c.1377T>G p.A459= Synonymous 13/13 - 1
6-122753132-T-G c.1378T>G p.S460A Missense 13/13 - 2
6-122753136-C-T c.1382C>T p.S461F Missense 13/13 - 4
6-122753149-G-A c.1395G>A p.A465= Synonymous 13/13 - 2
6-122753149-G-C c.1395G>C p.A465= Synonymous 13/13 - 1
6-122753149-G-T c.1395G>T p.A465= Synonymous 13/13 - 1
6-122753151-G-A c.1397G>A p.S466N Missense 13/13 - 1
6-122753152-T-G c.1398T>G p.S466R Missense 13/13 - 2
6-122753159-G-T c.1405G>T p.A469S Missense 13/13 - 1
6-122753160-C-T c.1406C>T p.A469V Missense 13/13 - 4
6-122753163-C-T c.1409C>T p.S470L Missense 13/13 - 1
6-122753166-C-T c.1412C>T p.S471L Missense 13/13 - 1
6-122753179-C-T c.1425C>T p.S475= Synonymous 13/13 - 1
6-122753180-T-A c.1426T>A p.S476T Missense 13/13 - 3
6-122753188-T-A c.1434T>A p.D478E Missense 13/13 - 3
6-122753190-A-C c.1436A>C p.K479T Missense 13/13 - 3
6-122753196-T-C c.1442T>C p.I481T Missense 13/13 - 2
6-122753198-G-A c.1444G>A p.E482K Missense 13/13 - 4
6-122753202-T-G c.1448T>G p.V483G Missense 13/13 - 3
6-122753203-T-C c.1449T>C p.V483= Synonymous 13/13 - 1
6-122753206-T-C c.1452T>C p.D484= Synonymous 13/13 - 1
6-122753212-T-C c.1458T>C p.L486= Synonymous 13/13 - 2
6-122753220-G-A c.1466G>A p.S489N Missense 13/13 - 2
6-122753222-A-G c.1468A>G p.S490G Missense 13/13 - 3
6-122753230-C-T c.1476C>T p.D492= Synonymous 13/13 - 1
6-122753231-C-T c.1477C>T p.P493S Missense 13/13 - 1
6-122753232-C-T c.1478C>T p.P493L Missense 13/13 - 1
6-122753233-A-G c.1479A>G p.P493= Synonymous 13/13 - 1
6-122753236-A-G c.1482A>G p.E494= Synonymous 13/13 - 2
6-122753257-T-C c.1503T>C p.V501= Synonymous 13/13 - 1
6-122753257-TTCGC-T c.1503_1506del p.R502Wfs*4 Frameshift 13/13 - 1
6-122753258-C-T c.1504C>T p.R502C Missense 13/13 - 3
6-122753259-G-A c.1505G>A p.R502H Missense 13/13 - 6
6-122753266-G-A c.1512G>A p.E504= Synonymous 13/13 - 1
6-122753272-G-T c.1518G>T p.L506F Missense 13/13 - 1
6-122753278-A-G c.1524A>G p.E508= Synonymous 13/13 - 1
6-122753282-G-A c.1528G>A p.E510K Missense 13/13 - 1
6-122753291-G-T c.1537G>T p.E513* Nonsense 13/13 - 1
6-122753300-C-T c.1546C>T p.L516= Synonymous 13/13 - 2
6-122753302-G-A c.1548G>A p.L516= Synonymous 13/13 - 2
6-122753302-G-C c.1548G>C p.L516= Synonymous 13/13 - 2
6-122753302-G-T c.1548G>T p.L516= Synonymous 13/13 - 4
6-122753311-A-G c.1557A>G p.L519= Synonymous 13/13 - 1
6-122753330-C-G c.1576C>G p.P526A Missense 13/13 - 1
6-122753331-C-A c.1577C>A p.P526H Missense 13/13 - 6
6-122753350-A-G c.1596A>G p.P532= Synonymous 13/13 - 1
6-122753359-T-A c.1605T>A p.D535E Missense 13/13 - 3
6-122753368-C-T c.*3C>T - 3-UTRSNV 13/13 - 2