SPDEF

SPDEF SAM pointed domain containing ETS transcription factor

Annotation transcript: NM_012391.3

337 unique variant annotations were identified in 200 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
6-34505633-C-A c.*418G>T - 3-UTRSNV 6/6 - 1
6-34506054-G-C c.1005C>G p.I335M Missense 6/6 - 1
6-34506062-G-T c.997C>A p.H333N Missense 6/6 - 1
6-34506065-C-T c.994G>A p.V332M Missense 6/6 - 1
6-34506066-G-A c.993C>T p.F331= Synonymous 6/6 - 1
6-34506077-C-T c.982G>A p.V328I Missense 6/6 - 2
6-34506078-G-A c.981C>T p.L327= Synonymous 6/6 - 2
6-34506082-C-A c.977G>T p.R326L Missense 6/6 - 1
6-34506091-A-G c.968T>C p.I323T Missense 6/6 - 2
6-34506097-G-A c.962C>T p.P321L Missense 6/6 - 1
6-34506103-C-A c.956G>T p.R319L Missense 6/6 - 1
6-34506103-C-T c.956G>A p.R319Q Missense 6/6 - 2
6-34506104-G-A c.955C>T p.R319W Missense 6/6 - 1
6-34506110-T-C c.949A>G p.I317V Missense 6/6 - 1
6-34506121-T-C c.938A>G p.Y313C Missense 6/6 - 1
6-34506127-T-C c.932A>G p.Q311R Missense 6/6 - 1
6-34506129-G-A c.930C>T p.R310= Synonymous 6/6 - 2
6-34506129-G-C c.930C>G p.R310= Synonymous 6/6 - 1
6-34506129-G-T c.930C>A p.R310= Synonymous 6/6 - 1
6-34506130-C-T c.929G>A p.R310H Missense 6/6 - 1
6-34506131-G-A c.928C>T p.R310C Missense 6/6 - 9
6-34506132-G-A c.927C>T p.I309= Synonymous 6/6 - 4
6-34506132-G-T c.927C>A p.I309= Synonymous 6/6 - 1
6-34506134-T-G c.925A>C p.I309L Missense 6/6 - 1
6-34506137-A-C c.922T>G p.S308A Missense 6/6 - 1
6-34506141-G-C c.918C>G p.S306R Missense 6/6 - 1
6-34506141-G-T c.918C>A p.S306R Missense 6/6 - 1
6-34506143-T-G c.916A>C p.S306R Missense 6/6 - 1
6-34506142-C-A c.917G>T p.S306I Missense 6/6 - 1
6-34506147-C-G c.912G>C p.K304N Missense 6/6 - 1
6-34506152-C-T c.907G>A p.D303N Missense 6/6 - 1
6-34506153-G-A c.906C>T p.Y302= Synonymous 6/6 - 3
6-34506164-C-T c.895G>A p.A299T Missense 6/6 - 3
6-34506166-G-A c.893C>T p.P298L Missense 6/6 - 1
6-34506169-C-T c.890G>A p.R297H Missense 6/6 - 4
6-34506170-G-A c.889C>T p.R297C Missense 6/6 - 2
6-34506171-G-A c.888C>T p.N296= Synonymous 6/6 - 1
6-34506177-G-A c.882C>T p.R294= Synonymous 6/6 - 1
6-34506177-G-C c.882C>G p.R294= Synonymous 6/6 - 1
6-34506177-G-T c.882C>A p.R294= Synonymous 6/6 - 1
6-34506178-C-T c.881G>A p.R294H Missense 6/6 - 3
6-34506179-G-A c.880C>T p.R294C Missense 6/6 - 2
6-34506180-G-A c.879C>T p.I293= Synonymous 6/6 - 2
6-34506180-G-T c.879C>A p.I293= Synonymous 6/6 - 2
6-34506192-C-A c.867G>T p.R289= Synonymous 6/6 - 1
6-34506192-C-G c.867G>C p.R289= Synonymous 6/6 - 1
6-34506192-C-T c.867G>A p.R289= Synonymous 6/6 - 1
6-34506194-G-A c.865C>T p.R289W Missense 6/6 - 4
6-34506194-G-T c.865C>A p.R289= Synonymous 6/6 - 1
6-34506195-G-A c.864C>T p.A288= Synonymous 6/6 - 1
6-34506197-C-G c.862G>C p.A288P Missense 6/6 - 1
6-34506200-C-A c.859G>T p.V287L Missense 6/6 - 1
6-34506201-C-A c.858G>T p.Q286H Missense 6/6 - 1
6-34506210-G-A c.849C>T p.D283= Synonymous 6/6 - 1
6-34506212-C-G c.847G>C p.D283H Missense 6/6 - 8
6-34506216-A-G c.843T>C p.I281= Synonymous 6/6 - 2
6-34506216-A-T c.843T>A p.I281= Synonymous 6/6 - 2
6-34506235-G-A c.830-6C>T - IntronicSNV - 5/5 1
6-34506833-A-G c.829+194T>C - IntronicSNV - 5/5 1
6-34507004-C-T c.829+23G>A - IntronicSNV - 5/5 4
6-34507026-C-T c.829+1G>A - IntronicSNV - 5/5 1
6-34507032-T-A c.824A>T p.E275V Missense 5/6 - 1
6-34507030-TCTC-T c.823_825del p.E275del InFrameDeletion 5/6 - 1
6-34507033-C-T c.823G>A p.E275K Missense 5/6 - 4
6-34507034-C-T c.822G>A p.K274= Synonymous 5/6 - 1
6-34507044-C-T c.812G>A p.W271* Nonsense 5/6 - 1
6-34507057-G-A c.799C>T p.R267C Missense 5/6 - 1
6-34507059-C-G c.797G>C p.G266A Missense 5/6 - 3
6-34507061-A-G c.795T>C p.Y265= Synonymous 5/6 - 1
6-34507062-T-C c.794A>G p.Y265C Missense 5/6 - 5
6-34507072-G-A c.784C>T p.P262S Missense 5/6 - 4
6-34507077-A-T c.779T>A p.L260H Missense 5/6 - 1
6-34507080-AG-GA c.775_776delinsTC p.L259S Missense 5/6 - 1
6-34507087-C-T c.769G>A p.E257K Missense 5/6 - 4
6-34507088-C-T c.768G>A p.K256= Synonymous 5/6 - 1
6-34507091-G-A c.765C>T p.L255= Synonymous 5/6 - 1
6-34507091-G-C c.765C>G p.L255= Synonymous 5/6 - 1
6-34507091-G-T c.765C>A p.L255= Synonymous 5/6 - 1
6-34507099-G-A c.757C>T p.Q253* Nonsense 5/6 - 1
6-34507100-C-T c.756G>A p.W252* Nonsense 5/6 - 1
6-34507103-CAG-GAT c.751_753delinsATC p.L251I Missense 5/6 - 1
6-34507112-G-A c.744C>T p.P248= Synonymous 5/6 - 1
6-34507112-G-C c.744C>G p.P248= Synonymous 5/6 - 1
6-34507112-G-T c.744C>A p.P248= Synonymous 5/6 - 1
6-34507113-G-T c.743C>A p.P248H Missense 5/6 - 1
6-34507116-T-C c.740A>G p.Q247R Missense 5/6 - 1
6-34507121-G-A c.735C>T p.S245= Synonymous 5/6 - 1
6-34507121-G-C c.735C>G p.S245= Synonymous 5/6 - 1
6-34507121-G-T c.735C>A p.S245= Synonymous 5/6 - 1
6-34507127-T-A c.729A>T p.S243= Synonymous 5/6 - 1
6-34507127-T-C c.729A>G p.S243= Synonymous 5/6 - 1
6-34507127-T-G c.729A>C p.S243= Synonymous 5/6 - 1
6-34507128-G-A c.728C>T p.S243L Missense 5/6 - 3
6-34507129-A-C c.727T>G p.S243A Missense 5/6 - 1
6-34507135-C-T c.721G>A p.D241N Missense 5/6 - 1
6-34507136-C-T c.720G>A p.V240= Synonymous 5/6 - 1
6-34507141-C-T c.715G>A p.E239K Missense 5/6 - 1
6-34507142-G-A c.714C>T p.S238= Synonymous 5/6 - 1
6-34507143-CT-GC c.712_713delinsGC p.S238A Missense 5/6 - 1
6-34507149-G-T c.707C>A p.T236N Missense 5/6 - 1
6-34507164-CT-GC c.691_692delinsGC p.S231A Missense 5/6 - 1
6-34507167-G-A c.689C>T p.T230I Missense 5/6 - 1
6-34507168-T-G c.688A>C p.T230P Missense 5/6 - 1
6-34507169-C-A c.687G>T p.S229= Synonymous 5/6 - 1
6-34507169-C-G c.687G>C p.S229= Synonymous 5/6 - 2
6-34507169-C-T c.687G>A p.S229= Synonymous 5/6 - 1
6-34507170-G-A c.686C>T p.S229L Missense 5/6 - 8
6-34507171-A-G c.685T>C p.S229P Missense 5/6 - 1
6-34507304-T-C c.670A>G p.I224V Missense 4/6 - 1
6-34507305-C-T c.669G>A p.A223= Synonymous 4/6 - 1
6-34507310-C-T c.664G>A p.G222R Missense 4/6 - 1
6-34507311-A-G c.663T>C p.P221= Synonymous 4/6 - 3
6-34507316-A-C c.658T>G p.S220A Missense 4/6 - 1
6-34507317-AG-CA c.656_657delinsTG p.T219M Missense 4/6 - 1
6-34507321-C-T c.653G>A p.R218Q Missense 4/6 - 1
6-34507322-G-A c.652C>T p.R218W Missense 4/6 - 1
6-34507325-C-G c.649G>C p.E217Q Missense 4/6 - 1
6-34507332-C-A c.642G>T p.W214C Missense 4/6 - 1
6-34507332-C-G c.642G>C p.W214C Missense 4/6 - 1
6-34507336-G-A c.638C>T p.A213V Missense 4/6 - 1
6-34508776-C-A c.619G>T p.D207Y Missense 3/6 - 1
6-34508797-C-G c.598G>C p.D200H Missense 3/6 - 1
6-34508799-C-G c.596G>C p.G199A Missense 3/6 - 1
6-34508800-C-G c.595G>C p.G199R Missense 3/6 - 2
6-34508800-C-T c.595G>A p.G199R Missense 3/6 - 6
6-34508806-G-A c.589C>T p.L197= Synonymous 3/6 - 2
6-34508807-G-A c.588C>T p.P196= Synonymous 3/6 - 1
6-34508810-C-T c.585G>A p.S195= Synonymous 3/6 - 1
6-34508813-GC-TT c.581_582delinsAA p.R194Q Missense 3/6 - 2
6-34508814-C-T c.581G>A p.R194H Missense 3/6 - 3
6-34508815-G-A c.580C>T p.R194C Missense 3/6 - 2
6-34508815-G-T c.580C>A p.R194S Missense 3/6 - 1
6-34508821-G-A c.574C>T p.R192C Missense 3/6 - 4
6-34508823-A-G c.572T>C p.F191S Missense 3/6 - 3
6-34508822-G-C c.573C>G p.F191L Missense 3/6 - 2
6-34508822-G-T c.573C>A p.F191L Missense 3/6 - 2
6-34508824-A-G c.571T>C p.F191L Missense 3/6 - 2
6-34508830-C-A c.565G>T p.E189* Nonsense 3/6 - 3
6-34508834-C-T c.561G>A p.S187= Synonymous 3/6 - 3
6-34508836-A-C c.559T>G p.S187A Missense 3/6 - 1
6-34508840-G-T c.555C>A p.A185= Synonymous 3/6 - 1
6-34508841-G-A c.554C>T p.A185V Missense 3/6 - 2
6-34508848-G-A c.547C>T p.L183= Synonymous 3/6 - 1
6-34508852-C-T c.543G>A p.K181= Synonymous 3/6 - 4
6-34508857-C-T c.538G>A p.G180S Missense 3/6 - 1
6-34508859-G-A c.536C>T p.A179V Missense 3/6 - 1
6-34508875-C-T c.520G>A p.A174T Missense 3/6 - 2
6-34508884-AT-A c.511del p.M171Wfs*45 Frameshift 3/6 - 2
6-34508885-G-A c.510C>T p.P170= Synonymous 3/6 - 1
6-34508884-TG-T c.510del p.M171Wfs*45 Frameshift 3/6 - 2
6-34508894-C-T c.501G>A p.R167= Synonymous 3/6 - 1
6-34508895-C-T c.500G>A p.R167Q Missense 3/6 - 1
6-34508896-G-A c.499C>T p.R167W Missense 3/6 - 3
6-34508912-C-T c.483G>A p.W161* Nonsense 3/6 - 2
6-34508913-C-T c.482G>A p.W161* Nonsense 3/6 - 1
6-34508914-CA-C c.481del p.W161Gfs*55 Frameshift 3/6 - 1
6-34508915-C-A c.480G>T p.L160= Synonymous 3/6 - 1
6-34508915-C-G c.480G>C p.L160= Synonymous 3/6 - 1
6-34508915-C-T c.480G>A p.L160= Synonymous 3/6 - 1
6-34508917-G-A c.478C>T p.L160= Synonymous 3/6 - 2
6-34508921-C-G c.474G>C p.W158C Missense 3/6 - 1
6-34508921-C-T c.474G>A p.W158* Nonsense 3/6 - 1
6-34508922-C-T c.473G>A p.W158* Nonsense 3/6 - 1
6-34508924-C-A c.471G>T p.K157N Missense 3/6 - 1
6-34508924-C-G c.471G>C p.K157N Missense 3/6 - 1
6-34508940-G-A c.455C>T p.P152L Missense 3/6 - 1
6-34508950-C-T c.445G>A p.D149N Missense 3/6 - 6
6-34508951-C-T c.444G>A p.M148I Missense 3/6 - 2
6-34508953-T-C c.442A>G p.M148V Missense 3/6 - 2
6-34508954-G-A c.441C>T p.P147= Synonymous 3/6 - 1
6-34508954-G-C c.441C>G p.P147= Synonymous 3/6 - 1
6-34508954-G-T c.441C>A p.P147= Synonymous 3/6 - 1
6-34508955-G-C c.440C>G p.P147R Missense 3/6 - 6
6-34510786-C-T c.436+1011G>A - IntronicSNV - 2/5 1
6-34511684-G-A c.436+113C>T - IntronicSNV - 2/5 1
6-34511802-G-A c.431C>T p.T144I Missense 2/6 - 1
6-34511806-T-C c.427A>G p.I143V Missense 2/6 - 1
6-34511816-C-A c.417G>T p.K139N Missense 2/6 - 1
6-34511817-T-C c.416A>G p.K139R Missense 2/6 - 1
6-34511825-C-A c.408G>T p.T136= Synonymous 2/6 - 1
6-34511828-C-A c.405G>T p.E135D Missense 2/6 - 1
6-34511828-C-G c.405G>C p.E135D Missense 2/6 - 1
6-34511828-C-T c.405G>A p.E135= Synonymous 2/6 - 4
6-34511830-C-T c.403G>A p.E135K Missense 2/6 - 6
6-34511834-G-A c.399C>T p.D133= Synonymous 2/6 - 1
6-34511852-C-T c.381G>A p.V127= Synonymous 2/6 - 1
6-34511857-C-A c.376G>T p.V126L Missense 2/6 - 1
6-34511857-C-G c.376G>C p.V126L Missense 2/6 - 1
6-34511861-G-A c.372C>T p.S124= Synonymous 2/6 - 2
6-34511862-G-A c.371C>T p.S124F Missense 2/6 - 4
6-34511868-A-C c.365T>G p.V122G Missense 2/6 - 1
6-34511872-G-T c.361C>A p.Q121K Missense 2/6 - 1
6-34511877-A-G c.356T>C p.L119P Missense 2/6 - 2
6-34511880-G-A c.353C>T p.S118L Missense 2/6 - 1
6-34511883-T-C c.350A>G p.H117R Missense 2/6 - 3
6-34511885-C-A c.348G>T p.E116D Missense 2/6 - 1
6-34511889-T-A c.344A>T p.E115V Missense 2/6 - 1
6-34511891-C-A c.342G>T p.L114F Missense 2/6 - 1
6-34511894-G-A c.339C>T p.T113= Synonymous 2/6 - 1
6-34511897-C-A c.336G>T p.L112= Synonymous 2/6 - 1
6-34511898-A-C c.335T>G p.L112R Missense 2/6 - 1
6-34511903-G-A c.330C>T p.G110= Synonymous 2/6 - 1
6-34511904-C-G c.329G>C p.G110A Missense 2/6 - 1
6-34511905-C-T c.328G>A p.G110S Missense 2/6 - 1
6-34511907-G-A c.326C>T p.P109L Missense 2/6 - 3
6-34511907-G-T c.326C>A p.P109H Missense 2/6 - 1
6-34511908-G-A c.325C>T p.P109S Missense 2/6 - 1
6-34511910-A-G c.323T>C p.V108A Missense 2/6 - 2
6-34511919-A-T c.314T>A p.L105Q Missense 2/6 - 1
6-34511921-G-A c.312C>T p.S104= Synonymous 2/6 - 1
6-34511922-C-T c.311G>A p.S104N Missense 2/6 - 3
6-34511922-CT-AA c.310_311delinsTT p.S104F Missense 2/6 - 1
6-34511927-C-A c.306G>T p.A102= Synonymous 2/6 - 1
6-34511927-C-G c.306G>C p.A102= Synonymous 2/6 - 1
6-34511927-C-T c.306G>A p.A102= Synonymous 2/6 - 3
6-34511928-G-A c.305C>T p.A102V Missense 2/6 - 3
6-34511928-G-C c.305C>G p.A102G Missense 2/6 - 1
6-34511929-C-T c.304G>A p.A102T Missense 2/6 - 1
6-34511940-C-T c.293G>A p.S98N Missense 2/6 - 2
6-34511944-C-G c.289G>C p.D97H Missense 2/6 - 3
6-34511952-G-A c.281C>T p.P94L Missense 2/6 - 1
6-34511952-G-C c.281C>G p.P94R Missense 2/6 - 1
6-34511953-G-A c.280C>T p.P94S Missense 2/6 - 1
6-34511955-C-A c.278G>T p.C93F Missense 2/6 - 1
6-34511962-C-G c.271G>C p.E91Q Missense 2/6 - 1
6-34511973-G-A c.260C>T p.P87L Missense 2/6 - 2
6-34511985-C-T c.248G>A p.R83Q Missense 2/6 - 1
6-34511997-C-T c.236G>A p.G79E Missense 2/6 - 3
6-34512000-G-C c.233C>G p.P78R Missense 2/6 - 3
6-34512001-G-A c.232C>T p.P78S Missense 2/6 - 1
6-34512002-GG-CT c.230_231delinsAG p.A77E Missense 2/6 - 1
6-34512002-GGC-TTG c.229_231delinsCAA p.A77Q Missense 2/6 - 1
6-34512003-G-C c.230C>G p.A77G Missense 2/6 - 1
6-34512004-C-G c.229G>C p.A77P Missense 2/6 - 1
6-34512008-GGC-CCA c.223_225delinsTGG p.A75W Missense 2/6 - 1
6-34512009-GC-CA c.223_224delinsTG p.A75C Missense 2/6 - 1
6-34512009-G-T c.224C>A p.A75D Missense 2/6 - 1
6-34512014-C-T c.219G>A p.W73* Nonsense 2/6 - 3
6-34512015-C-T c.218G>A p.W73* Nonsense 2/6 - 2
6-34512017-G-C c.216C>G p.S72R Missense 2/6 - 1
6-34512017-G-T c.216C>A p.S72R Missense 2/6 - 1
6-34512019-T-G c.214A>C p.S72R Missense 2/6 - 1
6-34512019-T-C c.214A>G p.S72G Missense 2/6 - 1
6-34512028-C-T c.205G>A p.E69K Missense 2/6 - 1
6-34512036-A-G c.197T>C p.L66P Missense 2/6 - 1
6-34512038-C-T c.195G>A p.M65I Missense 2/6 - 1
6-34512051-G-A c.182C>T p.S61F Missense 2/6 - 6
6-34512052-A-C c.181T>G p.S61A Missense 2/6 - 1
6-34512054-A-G c.179T>C p.L60P Missense 2/6 - 2
6-34512057-T-C c.176A>G p.Y59C Missense 2/6 - 1
6-34512062-G-T c.171C>A p.A57= Synonymous 2/6 - 1
6-34512064-C-T c.169G>A p.A57T Missense 2/6 - 11
6-34512065-G-A c.168C>T p.S56= Synonymous 2/6 - 4
6-34512065-G-C c.168C>G p.S56= Synonymous 2/6 - 2
6-34512065-G-T c.168C>A p.S56= Synonymous 2/6 - 2
6-34512073-C-T c.160G>A p.G54S Missense 2/6 - 6
6-34512074-C-A c.159G>T p.Q53H Missense 2/6 - 5
6-34512074-C-G c.159G>C p.Q53H Missense 2/6 - 4
6-34512076-G-T c.157C>A p.Q53K Missense 2/6 - 1
6-34512079-C-T c.154G>A p.E52K Missense 2/6 - 4
6-34512080-G-A c.153C>T p.P51= Synonymous 2/6 - 1
6-34512083-C-T c.150G>A p.T50= Synonymous 2/6 - 2
6-34512084-G-A c.149C>T p.T50M Missense 2/6 - 2
6-34512085-T-C c.148A>G p.T50A Missense 2/6 - 2
6-34512087-G-C c.146C>G p.A49G Missense 2/6 - 1
6-34512087-GC-AT c.145_146delinsAT p.A49I Missense 2/6 - 1
6-34512087-GC-TG c.145_146delinsCA p.A49H Missense 2/6 - 1
6-34512088-C-T c.145G>A p.A49T Missense 2/6 - 2
6-34512089-G-A c.144C>T p.P48= Synonymous 2/6 - 5
6-34512089-G-C c.144C>G p.P48= Synonymous 2/6 - 2
6-34512089-G-T c.144C>A p.P48= Synonymous 2/6 - 2
6-34512091-G-T c.142C>A p.P48T Missense 2/6 - 2
6-34512092-T-G c.141A>C p.P47= Synonymous 2/6 - 1
6-34512092-TGGACTGGGACTCCAGTCCC-T c.122_140del p.R41Hfs*66 Frameshift 2/6 - 1
6-34512099-G-A c.134C>T p.P45L Missense 2/6 - 1
6-34512100-G-C c.133C>G p.P45A Missense 2/6 - 1
6-34512102-CT-GC c.130_131delinsGC p.S44A Missense 2/6 - 1
6-34512112-G-A c.121C>T p.R41W Missense 2/6 - 3
6-34512119-G-A c.114C>T p.L38= Synonymous 2/6 - 2
6-34512125-C-A c.108G>T p.V36= Synonymous 2/6 - 1
6-34512125-C-G c.108G>C p.V36= Synonymous 2/6 - 1
6-34512125-C-T c.108G>A p.V36= Synonymous 2/6 - 1
6-34512131-C-T c.102G>A p.G34= Synonymous 2/6 - 1
6-34512132-C-A c.101G>T p.G34V Missense 2/6 - 1
6-34512134-C-A c.99G>T p.A33= Synonymous 2/6 - 1
6-34512134-C-G c.99G>C p.A33= Synonymous 2/6 - 1
6-34512134-C-T c.99G>A p.A33= Synonymous 2/6 - 1
6-34512135-G-C c.98C>G p.A33G Missense 2/6 - 1
6-34512135-GC-CT c.97_98delinsAG p.A33R Missense 2/6 - 1
6-34512141-G-A c.92C>T p.A31V Missense 2/6 - 1
6-34512142-C-G c.91G>C p.A31P Missense 2/6 - 1
6-34512143-C-A c.90G>T p.K30N Missense 2/6 - 3
6-34512143-C-G c.90G>C p.K30N Missense 2/6 - 2
6-34512146-C-T c.87G>A p.E29= Synonymous 2/6 - 3
6-34512149-C-T c.84G>A p.L28= Synonymous 2/6 - 1
6-34512153-C-T c.80G>A p.G27D Missense 2/6 - 3
6-34512159-C-T c.74G>A p.R25Q Missense 2/6 - 1
6-34512160-G-A c.73C>T p.R25W Missense 2/6 - 7
6-34512160-G-T c.73C>A p.R25= Synonymous 2/6 - 2
6-34512161-C-A c.72G>T p.S24= Synonymous 2/6 - 1
6-34512161-C-G c.72G>C p.S24= Synonymous 2/6 - 1
6-34512161-C-T c.72G>A p.S24= Synonymous 2/6 - 1
6-34512162-G-A c.71C>T p.S24L Missense 2/6 - 1
6-34512166-C-T c.67G>A p.V23M Missense 2/6 - 1
6-34512168-G-A c.65C>T p.T22M Missense 2/6 - 1
6-34512172-C-CA c.60_61insT p.D21* Nonsense 2/6 - 1
6-34512172-C-T c.61G>A p.D21N Missense 2/6 - 1
6-34512175-G-A c.58C>T p.P20S Missense 2/6 - 1
6-34512176-G-C c.57C>G p.P19= Synonymous 2/6 - 1
6-34512172-C-CG c.60dup p.D21Rfs*44 Frameshift 2/6 - 3
6-34512172-CG-C c.60del p.D21Tfs*92 Frameshift 2/6 - 2
6-34512178-G-A c.55C>T p.P19S Missense 2/6 - 3
6-34512185-G-C c.48C>G p.L16= Synonymous 2/6 - 1
6-34512187-G-A c.46C>T p.L16F Missense 2/6 - 1
6-34512187-G-T c.46C>A p.L16I Missense 2/6 - 1
6-34512192-C-A c.41G>T p.S14I Missense 2/6 - 2
6-34512192-CT-GC c.40_41delinsGC p.S14A Missense 2/6 - 3
6-34512193-T-A c.40A>T p.S14C Missense 2/6 - 2
6-34512194-GGG-CTT c.37_39delinsAAG p.P13K Missense 2/6 - 1
6-34512195-G-C c.38C>G p.P13R Missense 2/6 - 10
6-34512195-G-T c.38C>A p.P13H Missense 2/6 - 4
6-34512199-A-C c.34T>G p.S12A Missense 2/6 - 1
6-34512201-A-G c.32T>C p.V11A Missense 2/6 - 1
6-34512203-G-A c.30C>T p.S10= Synonymous 2/6 - 1
6-34512204-CT-GC c.28_29delinsGC p.S10A Missense 2/6 - 2
6-34512204-CT-TC c.28_29delinsGA p.S10D Missense 2/6 - 1
6-34512205-T-A c.28A>T p.S10C Missense 2/6 - 1
6-34512213-C-T c.20G>A p.G7D Missense 2/6 - 1
6-34512218-G-T c.15C>A p.S5R Missense 2/6 - 4
6-34512224-G-A c.9C>T p.S3= Synonymous 2/6 - 2
6-34512228-C-T c.5G>A p.G2D Missense 2/6 - 1
6-34512254-G-A c.-22C>T - 5-UTRSNV 2/6 - 1
6-34512265-C-T c.-29-4G>A - IntronicSNV - 1/5 1
6-34513266-C-A c.-29-1005G>T - IntronicSNV - 1/5 1
6-34514076-T-C c.-29-1815A>G - IntronicSNV - 1/5 1
6-34514207-C-T c.-29-1946G>A - IntronicSNV - 1/5 1
6-34523697-T-C c.-30+9A>G - intron_variant - 1/5 2