BBX

BBX BBX high mobility group box domain containing

Annotation transcript: NM_001142568.3

976 unique variant annotations were identified in 407 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
3-107243467-G-A c.-156+1513G>A - intron_variant - 1/17 1
3-107243467-G-C c.-156+1513G>C - intron_variant - 1/17 1
3-107243467-G-T c.-156+1513G>T - intron_variant - 1/17 1
3-107246785-G-T c.-84+1540G>T - intron_variant - 2/17 1
3-107250143-C-T c.-84+4898C>T - intron_variant - 2/17 1
3-107251324-C-T c.-84+6079C>T - intron_variant - 2/17 1
3-107252190-A-G c.-84+6945A>G - intron_variant - 2/17 1
3-107252190-A-T c.-84+6945A>T - intron_variant - 2/17 1
3-107263875-A-T c.-84+18630A>T - intron_variant - 2/17 1
3-107294634-G-A c.-84+49389G>A - intron_variant - 2/17 2
3-107295392-A-C c.-84+50147A>C - intron_variant - 2/17 1
3-107298118-A-G c.-84+52873A>G - intron_variant - 2/17 1
3-107300979-A-T c.-84+55734A>T - intron_variant - 2/17 1
3-107302989-T-A c.-84+57744T>A - intron_variant - 2/17 2
3-107302989-T-C c.-84+57744T>C - intron_variant - 2/17 2
3-107307503-C-T c.-83-57180C>T - intron_variant - 2/17 1
3-107311016-A-C c.-83-53667A>C - intron_variant - 2/17 1
3-107312980-G-A c.-83-51703G>A - intron_variant - 2/17 1
3-107312980-G-T c.-83-51703G>T - intron_variant - 2/17 1
3-107340769-A-C c.-83-23914A>C - intron_variant - 2/17 1
3-107340769-A-G c.-83-23914A>G - intron_variant - 2/17 1
3-107356934-A-T c.-83-7749A>T - intron_variant - 2/17 1
3-107371482-C-A c.-10+6726C>A - intron_variant - 3/17 1
3-107399859-G-A c.-9-29440G>A - IntronicSNV - 3/17 1
3-107404332-T-G c.-83-24893T>G - IntronicSNV - 2/17 1
3-107343299-G-A c.-83-21384G>A - IntronicSNV - 2/17 1
3-107424090-G-A c.-9-5209G>A - IntronicSNV - 3/17 2
3-107424090-G-T c.-9-5209G>T - IntronicSNV - 3/17 2
3-107428412-T-C c.-155-741T>C - IntronicSNV - 1/17 1
3-107429258-C-T c.-9-41C>T - IntronicSNV - 3/17 1
3-107429309-T-C c.2T>C p.M1? Missense 4/18 - 1
3-107429317-AGT-TGA c.10_12delinsTGA p.S4* Nonsense 4/18 - 1
3-107429321-A-G c.14A>G p.N5S Missense 4/18 - 2
3-107429324-G-C c.17G>C p.R6T Missense 4/18 - 1
3-107429331-G-T c.24G>T p.K8N Missense 4/18 - 1
3-107429333-A-G c.26A>G p.D9G Missense 4/18 - 1
3-107429337-T-A c.30T>A p.H10Q Missense 4/18 - 1
3-107429337-T-G c.30T>G p.H10Q Missense 4/18 - 2
3-107429338-TCA-GAC c.31_33delinsGAC p.S11D Missense 4/18 - 1
3-107429338-T-G c.31T>G p.S11A Missense 4/18 - 3
3-107429339-C-A c.32C>A p.S11* Nonsense 4/18 - 1
3-107429339-CA-GT c.32_33delinsGT p.S11C Missense 4/18 - 2
3-107429339-C-G c.32C>G p.S11* Nonsense 4/18 - 1
3-107429341-GC-AA c.34_35delinsAA p.A12K Missense 4/18 - 2
3-107429341-GCA-ATG c.34_36delinsATG p.A12M Missense 4/18 - 1
3-107429341-GC-CA c.34_35delinsCA p.A12Q Missense 4/18 - 1
3-107429341-GC-TA c.34_35delinsTA p.A12* Nonsense 4/18 - 1
3-107429346-A-C c.39A>C p.E13D Missense 4/18 - 1
3-107429346-A-T c.39A>T p.E13D Missense 4/18 - 1
3-107429347-GGA-TGG c.40_42delinsTGG p.G14W Missense 4/18 - 1
3-107429348-G-C c.41G>C p.G14A Missense 4/18 - 6
3-107429348-G-T c.41G>T p.G14V Missense 4/18 - 1
3-107429350-G-T c.43G>T p.E15* Nonsense 4/18 - 1
3-107429355-G-A c.48G>A p.G16= Synonymous 4/18 - 1
3-107429355-G-C c.48G>C p.G16= Synonymous 4/18 - 1
3-107429355-G-T c.48G>T p.G16= Synonymous 4/18 - 1
3-107429356-G-A c.49G>A p.V17I Missense 4/18 - 1
3-107429363-AA-TG c.56_57delinsTG p.K19M Missense 4/18 - 1
3-107429365-C-T c.58C>T p.R20* Nonsense 4/18 - 6
3-107429366-G-A c.59G>A p.R20Q Missense 4/18 - 1
3-107429374-C-A c.67C>A p.R23= Synonymous 4/18 - 1
3-107429374-CG-AT c.67_68delinsAT p.R23I Missense 4/18 - 1
3-107429374-CGA-TGT c.67_69delinsTGT p.R23C Missense 4/18 - 1
3-107429374-C-T c.67C>T p.R23* Nonsense 4/18 - 3
3-107429376-A-C c.69A>C p.R23= Synonymous 4/18 - 1
3-107429376-A-G c.69A>G p.R23= Synonymous 4/18 - 1
3-107429376-A-T c.69A>T p.R23= Synonymous 4/18 - 1
3-107429375-G-A c.68G>A p.R23Q Missense 4/18 - 3
3-107429382-T-C c.75T>C p.C25= Synonymous 4/18 - 1
3-107429390-G-A c.83G>A p.W28* Nonsense 4/18 - 2
3-107429390-G-C c.83G>C p.W28S Missense 4/18 - 1
3-107429391-G-A c.84G>A p.W28* Nonsense 4/18 - 3
3-107429395-C-A c.88C>A p.P30T Missense 4/18 - 1
3-107429399-T-C c.92T>C p.L31S Missense 4/18 - 1
3-107429404-G-A c.97G>A p.A33T Missense 4/18 - 1
3-107429404-G-C c.97G>C p.A33P Missense 4/18 - 1
3-107429404-GC-AG c.97_98delinsAG p.A33R Missense 4/18 - 1
3-107429407-A-G c.100A>G p.K34E Missense 4/18 - 1
3-107429409-G-A c.102G>A p.K34= Synonymous 4/18 - 1
3-107429413-C-A c.106C>A p.L36I Missense 4/18 - 1
3-107429423-T-C c.116T>C p.F39S Missense 4/18 - 1
3-107429425-T-A c.118T>A p.S40T Missense 4/18 - 2
3-107429434-G-T c.127G>T p.E43* Nonsense 4/18 - 1
3-107429435-A-T c.128A>T p.E43V Missense 4/18 - 1
3-107429437-G-A c.130G>A p.E44K Missense 4/18 - 1
3-107429440-G-A c.133G>A p.E45K Missense 4/18 - 1
3-107429440-G-T c.133G>T p.E45* Nonsense 4/18 - 2
3-107429441-A-T c.134A>T p.E45V Missense 4/18 - 1
3-107429446-G-T c.139G>T p.D47Y Missense 4/18 - 1
3-107429447-A-G c.140A>G p.D47G Missense 4/18 - 3
3-107429449-G-A c.142G>A p.E48K Missense 4/18 - 3
3-107429453-A-G c.146A>G p.E49G Missense 4/18 - 1
3-107429455-G-A c.148G>A p.E50K Missense 4/18 - 3
3-107429456-A-G c.149A>G p.E50G Missense 4/18 - 1
3-107429457-G-T c.150G>T p.E50D Missense 4/18 - 2
3-107429458-G-A c.151G>A p.D51N Missense 4/18 - 1
3-107429464-G-A c.157G>A p.D53N Missense 4/18 - 1
3-107429464-G-C c.157G>C p.D53H Missense 4/18 - 1
3-107435457-C-A c.166C>A p.Q56K Missense 5/18 - 1
3-107435457-C-T c.166C>T p.Q56* Nonsense 5/18 - 1
3-107435463-CTT-TGG c.172_174delinsTGG p.L58W Missense 5/18 - 1
3-107435469-GC-CT c.178_179delinsCT p.A60L Missense 5/18 - 1
3-107435470-C-T c.179C>T p.A60V Missense 5/18 - 2
3-107435471-C-A c.180C>A p.A60= Synonymous 5/18 - 1
3-107435471-C-G c.180C>G p.A60= Synonymous 5/18 - 1
3-107435471-C-T c.180C>T p.A60= Synonymous 5/18 - 1
3-107435472-G-A c.181G>A p.D61N Missense 5/18 - 3
3-107435473-A-G c.182A>G p.D61G Missense 5/18 - 1
3-107435479-T-C c.188T>C p.L63P Missense 5/18 - 3
3-107435483-G-A c.192G>A p.E64= Synonymous 5/18 - 1
3-107435486-A-G c.195A>G p.Q65= Synonymous 5/18 - 1
3-107435487-G-T c.196G>T p.D66Y Missense 5/18 - 2
3-107435491-T-C c.200T>C p.V67A Missense 5/18 - 4
3-107435496-G-T c.205G>T p.E69* Nonsense 5/18 - 1
3-107435497-A-T c.206A>T p.E69V Missense 5/18 - 1
3-107435501-T-G c.210T>G p.T70= Synonymous 5/18 - 2
3-107435502-G-A c.211G>A p.E71K Missense 5/18 - 1
3-107435504-A-C c.213A>C p.E71D Missense 5/18 - 1
3-107435504-A-T c.213A>T p.E71D Missense 5/18 - 1
3-107435505-G-T c.214G>T p.D72Y Missense 5/18 - 1
3-107435506-A-C c.215A>C p.D72A Missense 5/18 - 2
3-107435509-A-T c.218A>T p.D73V Missense 5/18 - 1
3-107435511-G-T c.220G>T p.E74* Nonsense 5/18 - 1
3-107435513-A-T c.222A>T p.E74D Missense 5/18 - 1
3-107435515-C-T c.224C>T p.S75L Missense 5/18 - 1
3-107435519-A-T c.228A>T p.P76= Synonymous 5/18 - 1
3-107435520-G-T c.229G>T p.E77* Nonsense 5/18 - 1
3-107435526-C-G c.235C>G p.R79G Missense 5/18 - 2
3-107435526-C-T c.235C>T p.R79* Nonsense 5/18 - 5
3-107435527-G-A c.236G>A p.R79Q Missense 5/18 - 3
3-107435529-G-A c.238G>A p.A80T Missense 5/18 - 1
3-107435532-C-A c.241C>A p.R81= Synonymous 5/18 - 1
3-107435532-C-T c.241C>T p.R81W Missense 5/18 - 14
3-107435534-G-A c.243G>A p.R81= Synonymous 5/18 - 1
3-107435534-G-C c.243G>C p.R81= Synonymous 5/18 - 1
3-107435534-G-T c.243G>T p.R81= Synonymous 5/18 - 1
3-107435533-G-A c.242G>A p.R81Q Missense 5/18 - 1
3-107435533-G-T c.242G>T p.R81L Missense 5/18 - 1
3-107435535-A-AG c.245dup p.P83Tfs*24 Frameshift 5/18 - 1
3-107435536-G-A c.245G>A p.R82K Missense 5/18 - 1
3-107435541-A-G c.250A>G p.M84V Missense 5/18 - 2
3-107435553-C-A c.262C>A p.L88I Missense 5/18 - 1
3-107435554-TT-AA c.263_264inv p.L88Q Missense 5/18 - 1
3-107435568-C-G c.277C>G p.R93G Missense 5/18 - 1
3-107435568-C-T c.277C>T p.R93C Missense 5/18 - 1
3-107435569-G-A c.278G>A p.R93H Missense 5/18 - 1
3-107435570-C-T c.279C>T p.R93= Synonymous 5/18 - 1
3-107435575-G-A c.284G>A p.R95H Missense 5/18 - 3
3-107435575-G-T c.284G>T p.R95L Missense 5/18 - 1
3-107435576-C-T c.285C>T p.R95= Synonymous 5/18 - 1
3-107435578-C-T c.287C>T p.S96F Missense 5/18 - 2
3-107435586-C-T c.295C>T p.R99C Missense 5/18 - 1
3-107435588-T-C c.297T>C p.R99= Synonymous 5/18 - 1
3-107435591-G-C c.300G>C p.Q100H Missense 5/18 - 1
3-107435591-G-T c.300G>T p.Q100H Missense 5/18 - 2
3-107435596-A-T c.305A>T p.H102L Missense 5/18 - 1
3-107435597-C-A c.306C>A p.H102Q Missense 5/18 - 1
3-107435599-C-G c.308C>G p.P103R Missense 5/18 - 2
3-107435601-A-G c.310A>G p.R104G Missense 5/18 - 1
3-107435601-AGG-CAT c.310_312delinsCAT p.R104H Missense 5/18 - 2
3-107435603-G-C c.312G>C p.R104S Missense 5/18 - 1
3-107435605-T-G c.314T>G p.L105R Missense 5/18 - 2
3-107435607-G-A c.316G>A p.D106N Missense 5/18 - 1
3-107435613-C-G c.322C>G p.R108G Missense 5/18 - 1
3-107435614-G-A c.323G>A p.R108Q Missense 5/18 - 1
3-107435617-G-C c.326G>C p.G109A Missense 5/18 - 2
3-107435617-G-T c.326G>T p.G109V Missense 5/18 - 1
3-107435619-G-T c.328G>T p.A110S Missense 5/18 - 2
3-107435622-A-T c.331A>T p.T111S Missense 5/18 - 1
3-107435623-C-G c.332C>G p.T111S Missense 5/18 - 1
3-107435627-G-C c.336G>C p.K112N Missense 5/18 - 1
3-107435627-G-T c.336G>T p.K112N Missense 5/18 - 1
3-107435631-C-T c.340C>T p.L114= Synonymous 5/18 - 1
3-107435635-CT-AG c.344_345inv p.A115E Missense 5/18 - 1
3-107435647-C-A c.356C>A p.A119D Missense 5/18 - 3
3-107435647-C-T c.356C>T p.A119V Missense 5/18 - 1
3-107435649-G-C c.358G>C p.V120L Missense 5/18 - 1
3-107435652-C-T c.361C>T p.L121F Missense 5/18 - 1
3-107435658-C-G c.367C>G p.P123A Missense 5/18 - 1
3-107435659-CA-AT c.368_369delinsAT p.P123H Missense 5/18 - 1
3-107435659-C-T c.368C>T p.P123L Missense 5/18 - 1
3-107435662-A-G c.371A>G p.K124R Missense 5/18 - 1
3-107435663-G-C c.372G>C p.K124N Missense 5/18 - 2
3-107435663-G-T c.372G>T p.K124N Missense 5/18 - 1
3-107435664-G-A c.373G>A p.E125K Missense 5/18 - 1
3-107435671-A-G c.380A>G p.Q127R Missense 5/18 - 1
3-107435679-A-G c.388A>G p.T130A Missense 5/18 - 1
3-107435680-CA-TG c.389_390inv p.T130M Missense 5/18 - 1
3-107435686-T-C c.395T>C p.M132T Missense 5/18 - 1
3-107435690-C-T c.399C>T p.A133= Synonymous 5/18 - 1
3-107435693-G-A c.402G>A p.K134= Synonymous 5/18 - 2
3-107435698-T-C c.405+2T>C - IntronicSNV - 5/17 1
3-107435728-T-C c.405+32T>C - IntronicSNV - 5/17 1
3-107436698-T-G c.405+1002T>G - IntronicSNV - 5/17 1
3-107440221-GT-G c.405+4533del - IntronicDeletion - 5/17 1
3-107447613-A-G c.407A>G p.Y136C Missense 6/18 - 3
3-107447617-G-A c.411G>A p.K137= Synonymous 6/18 - 1
3-107447618-G-T c.412G>T p.D138Y Missense 6/18 - 1
3-107447621-G-A c.415G>A p.A139T Missense 6/18 - 1
3-107447622-C-A c.416C>A p.A139E Missense 6/18 - 1
3-107447622-C-T c.416C>T p.A139V Missense 6/18 - 1
3-107447633-G-A c.427G>A p.A143T Missense 6/18 - 1
3-107447634-C-T c.428C>T p.A143V Missense 6/18 - 1
3-107447638-T-A c.432T>A p.N144K Missense 6/18 - 1
3-107447639-C-T c.433C>T p.P145S Missense 6/18 - 1
3-107447640-C-A c.434C>A p.P145H Missense 6/18 - 1
3-107447641-T-A c.435T>A p.P145= Synonymous 6/18 - 1
3-107447641-T-C c.435T>C p.P145= Synonymous 6/18 - 1
3-107447641-T-G c.435T>G p.P145= Synonymous 6/18 - 1
3-107447642-G-A c.436G>A p.G146S Missense 6/18 - 1
3-107447642-G-C c.436G>C p.G146R Missense 6/18 - 1
3-107447644-C-A c.438C>A p.G146= Synonymous 6/18 - 1
3-107447644-C-G c.438C>G p.G146= Synonymous 6/18 - 1
3-107447644-C-T c.438C>T p.G146= Synonymous 6/18 - 1
3-107447645-T-C c.439T>C p.Y147H Missense 6/18 - 1
3-107447652-G-T c.446G>T p.W149L Missense 6/18 - 2
3-107447653-G-A c.447G>A p.W149* Nonsense 6/18 - 1
3-107447661-C-T c.455C>T p.T152I Missense 6/18 - 1
3-107447662-C-T c.456C>T p.T152= Synonymous 6/18 - 1
3-107447670-A-G c.464A>G p.K155R Missense 6/18 - 1
3-107447671-G-C c.465G>C p.K155N Missense 6/18 - 1
3-107447671-G-T c.465G>T p.K155N Missense 6/18 - 1
3-107447675-GTG-TTT c.469_471delinsTTT p.V157F Missense 6/18 - 1
3-107447677-G-T c.471G>T p.V157= Synonymous 6/18 - 1
3-107447682-C-A c.476C>A p.S159Y Missense 6/18 - 1
3-107447682-C-T c.476C>T p.S159F Missense 6/18 - 3
3-107447683-C-A c.477C>A p.S159= Synonymous 6/18 - 3
3-107447683-C-G c.477C>G p.S159= Synonymous 6/18 - 1
3-107447683-C-T c.477C>T p.S159= Synonymous 6/18 - 2
3-107447684-C-T c.478C>T p.P160S Missense 6/18 - 1
3-107447694-C-A c.488C>A p.T163N Missense 6/18 - 1
3-107447696-G-T c.490G>T p.V164F Missense 6/18 - 1
3-107447700-A-G c.494A>G p.N165S Missense 6/18 - 1
3-107447705-C-G c.499C>G p.R167G Missense 6/18 - 2
3-107447705-C-T c.499C>T p.R167* Nonsense 6/18 - 5
3-107447706-G-A c.500G>A p.R167Q Missense 6/18 - 1
3-107447709-A-T c.503A>T p.K168M Missense 6/18 - 1
3-107447713-A-C c.507A>C p.K169N Missense 6/18 - 1
3-107447713-A-T c.507A>T p.K169N Missense 6/18 - 1
3-107447714-C-A c.508C>A p.L170I Missense 6/18 - 1
3-107447714-CT-GC c.508_509delinsGC p.L170A Missense 6/18 - 1
3-107447717-T-A c.511T>A p.W171R Missense 6/18 - 1
3-107447717-T-C c.511T>C p.W171R Missense 6/18 - 1
3-107447718-G-T c.512G>T p.W171L Missense 6/18 - 1
3-107447722-C-A c.516C>A p.A172= Synonymous 6/18 - 1
3-107447722-C-G c.516C>G p.A172= Synonymous 6/18 - 1
3-107447722-C-T c.516C>T p.A172= Synonymous 6/18 - 2
3-107447726-C-T c.520C>T p.P174S Missense 6/18 - 1
3-107447727-C-A c.521C>A p.P174Q Missense 6/18 - 1
3-107447730-CT-AA c.524_525delinsAA p.S175* Nonsense 6/18 - 1
3-107447736-C-G c.530C>G p.S177C Missense 6/18 - 2
3-107447736-C-T c.530C>T p.S177F Missense 6/18 - 1
3-107447740-A-C c.534A>C p.S178= Synonymous 6/18 - 1
3-107447740-A-G c.534A>G p.S178= Synonymous 6/18 - 1
3-107447740-A-T c.534A>T p.S178= Synonymous 6/18 - 1
3-107447750-C-T c.544C>T p.P182S Missense 6/18 - 1
3-107447754-G-A c.548G>A p.S183N Missense 6/18 - 1
3-107447756-C-A c.550C>A p.P184T Missense 6/18 - 1
3-107447758-C-A c.552C>A p.P184= Synonymous 6/18 - 1
3-107447758-C-G c.552C>G p.P184= Synonymous 6/18 - 1
3-107447758-C-T c.552C>T p.P184= Synonymous 6/18 - 1
3-107447758-CA-C c.554del p.K185Rfs*24 Frameshift 6/18 - 2
3-107447766-C-T c.560C>T p.A187V Missense 6/18 - 1
3-107447782-G-T c.576G>T p.M192I Missense 6/18 - 2
3-107447786-C-T c.580C>T p.Q194* Nonsense 6/18 - 1
3-107447789-C-T c.583C>T p.L195F Missense 6/18 - 1
3-107447792-A-T c.586A>T p.N196Y Missense 6/18 - 1
3-107447798-G-A c.592G>A p.G198R Missense 6/18 - 2
3-107447803-G-A c.597G>A p.M199I Missense 6/18 - 1
3-107447803-G-C c.597G>C p.M199I Missense 6/18 - 1
3-107447803-G-T c.597G>T p.M199I Missense 6/18 - 3
3-107447857-T-A c.601+50T>A - IntronicSNV - 6/17 5
3-107447857-T-G c.601+50T>G - IntronicSNV - 6/17 2
3-107448949-A-G c.601+1142A>G - IntronicSNV - 6/17 1
3-107450527-T-C c.602-1276T>C - IntronicSNV - 6/17 1
3-107451713-A-C c.602-90A>C - IntronicSNV - 6/17 1
3-107451814-A-G c.613A>G p.M205V Missense 7/18 - 1
3-107451818-G-C c.617G>C p.G206A Missense 7/18 - 6
3-107451824-T-C c.623T>C p.L208P Missense 7/18 - 1
3-107451824-T-G c.623T>G p.L208R Missense 7/18 - 1
3-107451823-C-T c.622C>T p.L208= Synonymous 7/18 - 2
3-107451825-G-A c.624G>A p.L208= Synonymous 7/18 - 2
3-107451825-G-C c.624G>C p.L208= Synonymous 7/18 - 2
3-107451825-G-T c.624G>T p.L208= Synonymous 7/18 - 2
3-107451829-A-C c.628A>C p.M210L Missense 7/18 - 1
3-107451829-A-G c.628A>G p.M210V Missense 7/18 - 3
3-107451829-A-T c.628A>T p.M210L Missense 7/18 - 1
3-107451841-G-A c.640G>A p.A214T Missense 7/18 - 1
3-107451845-G-A c.644G>A p.G215E Missense 7/18 - 1
3-107451850-C-G c.649C>G p.H217D Missense 7/18 - 1
3-107451854-C-T c.653C>T p.A218V Missense 7/18 - 1
3-107451862-A-T c.661A>T p.T221S Missense 7/18 - 1
3-107451864-A-C c.663A>C p.T221= Synonymous 7/18 - 1
3-107451864-A-G c.663A>G p.T221= Synonymous 7/18 - 1
3-107451864-A-T c.663A>T p.T221= Synonymous 7/18 - 1
3-107451907-C-T c.669+37C>T - IntronicSNV - 7/17 7
3-107454744-C-A c.669+2874C>A - IntronicSNV - 7/17 1
3-107463486-G-A c.679G>A p.G227S Missense 8/18 - 1
3-107463486-G-T c.679G>T p.G227C Missense 8/18 - 1
3-107463487-G-A c.680G>A p.G227D Missense 8/18 - 1
3-107463488-C-T c.681C>T p.G227= Synonymous 8/18 - 1
3-107463492-T-G c.685T>G p.C229G Missense 8/18 - 1
3-107463493-G-A c.686G>A p.C229Y Missense 8/18 - 1
3-107463494-C-T c.687C>T p.C229= Synonymous 8/18 - 1
3-107463495-A-T c.688A>T p.R230W Missense 8/18 - 1
3-107463499-C-T c.692C>T p.P231L Missense 8/18 - 1
3-107463507-TC-AG c.700_701delinsAG p.S234R Missense 8/18 - 1
3-107463511-A-G c.704A>G p.E235G Missense 8/18 - 1
3-107463512-A-C c.705A>C p.E235D Missense 8/18 - 1
3-107463519-G-C c.712G>C p.E238Q Missense 8/18 - 1
3-107463525-C-A c.718C>A p.R240S Missense 8/18 - 1
3-107463525-C-G c.718C>G p.R240G Missense 8/18 - 1
3-107463525-C-T c.718C>T p.R240C Missense 8/18 - 2
3-107463526-G-A c.719G>A p.R240H Missense 8/18 - 8
3-107463526-G-C c.719G>C p.R240P Missense 8/18 - 2
3-107463526-G-T c.719G>T p.R240L Missense 8/18 - 1
3-107463528-C-T c.721C>T p.Q241* Nonsense 8/18 - 1
3-107463536-A-C c.729A>C p.S243= Synonymous 8/18 - 1
3-107463536-A-G c.729A>G p.S243= Synonymous 8/18 - 1
3-107463536-A-T c.729A>T p.S243= Synonymous 8/18 - 1
3-107463539-A-G c.732A>G p.P244= Synonymous 8/18 - 1
3-107463546-C-A c.739C>A p.Q247K Missense 8/18 - 1
3-107463552-G-T c.745G>T p.A249S Missense 8/18 - 2
3-107463554-C-A c.747C>A p.A249= Synonymous 8/18 - 1
3-107463554-C-G c.747C>G p.A249= Synonymous 8/18 - 1
3-107463554-C-T c.747C>T p.A249= Synonymous 8/18 - 1
3-107463555-G-A c.748G>A p.E250K Missense 8/18 - 1
3-107463555-G-T c.748G>T p.E250* Nonsense 8/18 - 1
3-107463557-G-A c.750G>A p.E250= Synonymous 8/18 - 1
3-107463666-A-G c.750+109A>G - IntronicSNV - 8/17 1
3-107464170-A-G c.750+613A>G - IntronicSNV - 8/17 1
3-107464170-A-T c.750+613A>T - IntronicSNV - 8/17 1
3-107464317-AT-A c.750+769del - IntronicDeletion - 8/17 1
3-107465817-T-C c.751-995T>C - IntronicSNV - 8/17 5
3-107466812-A-G c.751A>G p.I251V Missense 9/18 - 2
3-107466818-T-G c.757T>G p.S253A Missense 9/18 - 1
3-107466825-C-T c.764C>T p.T255M Missense 9/18 - 3
3-107466827-T-C c.766T>C p.S256P Missense 9/18 - 1
3-107466834-C-T c.773C>T p.S258F Missense 9/18 - 1
3-107466840-C-T c.779C>T p.A260V Missense 9/18 - 4
3-107466845-A-G c.784A>G p.T262A Missense 9/18 - 6
3-107466846-C-T c.785C>T p.T262I Missense 9/18 - 1
3-107466847-A-C c.786A>C p.T262= Synonymous 9/18 - 1
3-107466847-A-G c.786A>G p.T262= Synonymous 9/18 - 2
3-107466847-A-T c.786A>T p.T262= Synonymous 9/18 - 1
3-107466855-G-A c.794G>A p.C265Y Missense 9/18 - 2
3-107466857-C-A c.796C>A p.Q266K Missense 9/18 - 1
3-107466871-G-C c.810G>C p.L270F Missense 9/18 - 2
3-107466871-G-T c.810G>T p.L270F Missense 9/18 - 1
3-107466875-C-A c.814C>A p.Q272K Missense 9/18 - 1
3-107466875-C-G c.814C>G p.Q272E Missense 9/18 - 1
3-107466884-G-A c.823G>A p.E275K Missense 9/18 - 1
3-107466884-G-C c.823G>C p.E275Q Missense 9/18 - 6
3-107466884-G-T c.823G>T p.E275* Nonsense 9/18 - 1
3-107466886-G-T c.825G>T p.E275D Missense 9/18 - 1
3-107467845-TA-T c.825+970del - IntronicDeletion - 9/17 1
3-107474446-T-C c.827T>C p.I276T Missense 10/18 - 1
3-107474447-T-G c.828T>G p.I276M Missense 10/18 - 1
3-107474449-C-A c.830C>A p.S277Y Missense 10/18 - 1
3-107474449-C-T c.830C>T p.S277F Missense 10/18 - 2
3-107474452-C-A c.833C>A p.S278* Nonsense 10/18 - 1
3-107474452-C-G c.833C>G p.S278* Nonsense 10/18 - 1
3-107474457-A-C c.838A>C p.T280P Missense 10/18 - 1
3-107474459-T-A c.840T>A p.T280= Synonymous 10/18 - 2
3-107474459-T-C c.840T>C p.T280= Synonymous 10/18 - 2
3-107474459-T-G c.840T>G p.T280= Synonymous 10/18 - 2
3-107474461-C-T c.842C>T p.S281L Missense 10/18 - 6
3-107474462-G-A c.843G>A p.S281= Synonymous 10/18 - 1
3-107474465-G-T c.846G>T p.Q282H Missense 10/18 - 1
3-107474468-G-C c.849G>C p.L283F Missense 10/18 - 2
3-107474468-G-T c.849G>T p.L283F Missense 10/18 - 4
3-107474470-G-A c.851G>A p.G284D Missense 10/18 - 1
3-107474473-G-C c.854G>C p.G285A Missense 10/18 - 1
3-107474475-G-A c.856G>A p.A286T Missense 10/18 - 2
3-107474476-C-G c.857C>G p.A286G Missense 10/18 - 1
3-107474476-C-T c.857C>T p.A286V Missense 10/18 - 2
3-107474483-T-C c.864T>C p.P288= Synonymous 10/18 - 1
3-107474486-A-C c.867A>C p.V289= Synonymous 10/18 - 1
3-107474486-A-G c.867A>G p.V289= Synonymous 10/18 - 1
3-107474486-A-T c.867A>T p.V289= Synonymous 10/18 - 1
3-107474490-C-T c.871C>T p.R291C Missense 10/18 - 2
3-107474491-G-A c.872G>A p.R291H Missense 10/18 - 1
3-107474493-T-C c.874T>C p.C292R Missense 10/18 - 1
3-107474505-G-T c.886G>T p.A296S Missense 10/18 - 2
3-107474514-C-A c.895C>A p.Q299K Missense 10/18 - 1
3-107474514-C-T c.895C>T p.Q299* Nonsense 10/18 - 3
3-107474517-C-T c.898C>T p.L300= Synonymous 10/18 - 1
3-107474523-G-A c.904G>A p.E302K Missense 10/18 - 1
3-107474523-G-C c.904G>C p.E302Q Missense 10/18 - 1
3-107474525-G-C c.906G>C p.E302D Missense 10/18 - 2
3-107474525-G-T c.906G>T p.E302D Missense 10/18 - 2
3-107474528-A-C c.906+3A>C - IntronicSNV - 10/17 1
3-107480342-C-T c.906+5817C>T - IntronicSNV - 10/17 1
3-107491490-G-A c.922G>A p.E308K Missense 11/18 - 2
3-107491498-G-T c.930G>T p.M310I Missense 11/18 - 1
3-107491500-A-T c.932A>T p.K311I Missense 11/18 - 1
3-107491504-G-A c.936G>A p.M312I Missense 11/18 - 2
3-107491504-G-C c.936G>C p.M312I Missense 11/18 - 2
3-107491504-G-T c.936G>T p.M312I Missense 11/18 - 4
3-107491516-G-C c.948G>C p.K316N Missense 11/18 - 1
3-107491516-G-T c.948G>T p.K316N Missense 11/18 - 1
3-107491524-A-C c.956A>C p.K319T Missense 11/18 - 1
3-107491526-G-A c.958G>A p.A320T Missense 11/18 - 1
3-107491527-C-A c.959C>A p.A320E Missense 11/18 - 1
3-107491534-A-G c.966A>G p.E322= Synonymous 11/18 - 1
3-107491536-C-T c.968C>T p.S323F Missense 11/18 - 3
3-107491537-C-T c.969C>T p.S323= Synonymous 11/18 - 1
3-107491556-G-T c.988G>T p.E330* Nonsense 11/18 - 1
3-107491558-A-C c.990A>C p.E330D Missense 11/18 - 1
3-107491558-A-T c.990A>T p.E330D Missense 11/18 - 1
3-107491559-T-C c.991T>C p.L331= Synonymous 11/18 - 1
3-107491561-A-G c.993A>G p.L331= Synonymous 11/18 - 1
3-107491563-A-T c.995A>T p.E332V Missense 11/18 - 1
3-107491564-G-C c.996G>C p.E332D Missense 11/18 - 1
3-107491564-G-T c.996G>T p.E332D Missense 11/18 - 1
3-107491572-A-G c.1004A>G p.K335R Missense 11/18 - 1
3-107491576-A-G c.1008A>G p.E336= Synonymous 11/18 - 1
3-107491577-G-A c.1009G>A p.E337K Missense 11/18 - 1
3-107491583-G-A c.1015G>A p.E339K Missense 11/18 - 1
3-107491583-G-T c.1015G>T p.E339* Nonsense 11/18 - 2
3-107491587-T-A c.1019T>A p.I340N Missense 11/18 - 1
3-107491588-T-G c.1020T>G p.I340M Missense 11/18 - 1
3-107491592-A-G c.1024A>G p.M342V Missense 11/18 - 2
3-107491596-A-G c.1028A>G p.E343G Missense 11/18 - 1
3-107491597-G-T c.1029G>T p.E343D Missense 11/18 - 1
3-107491599-A-C c.1031A>C p.K344T Missense 11/18 - 1
3-107491599-A-T c.1031A>T p.K344I Missense 11/18 - 1
3-107491604-G-A c.1036G>A p.D346N Missense 11/18 - 1
3-107491611-C-T c.1043C>T p.T348I Missense 11/18 - 3
3-107491614-G-T c.1046G>T p.R349M Missense 11/18 - 1
3-107491616-T-C c.1048T>C p.L350= Synonymous 11/18 - 1
3-107491618-A-G c.1050A>G p.L350= Synonymous 11/18 - 1
3-107491621-G-A c.1053G>A p.Q351= Synonymous 11/18 - 2
3-107491624-G-A c.1056G>A p.K352= Synonymous 11/18 - 3
3-107491637-G-C c.1069G>C p.E357Q Missense 11/18 - 1
3-107491637-G-GA c.1074dup p.S359Ifs*3 Frameshift 11/18 - 1
3-107491644-C-A c.1076C>A p.S359* Nonsense 11/18 - 2
3-107491644-C-T c.1076C>T p.S359L Missense 11/18 - 1
3-107491645-G-A c.1077G>A p.S359= Synonymous 11/18 - 1
3-107491648-T-A c.1080T>A p.A360= Synonymous 11/18 - 1
3-107491653-A-C c.1085A>C p.E362A Missense 11/18 - 1
3-107491662-G-C c.1094G>C p.R365T Missense 11/18 - 1
3-107491664-G-A c.1096G>A p.D366N Missense 11/18 - 2
3-107491664-G-C c.1096G>C p.D366H Missense 11/18 - 1
3-107491664-G-T c.1096G>T p.D366Y Missense 11/18 - 1
3-107491668-C-T c.1100C>T p.S367F Missense 11/18 - 5
3-107491672-G-T c.1104G>T p.K368N Missense 11/18 - 1
3-107491685-T-G c.1117T>G p.F373V Missense 11/18 - 2
3-107491690-G-C c.1122G>C p.E374D Missense 11/18 - 1
3-107491690-G-T c.1122G>T p.E374D Missense 11/18 - 2
3-107491692-C-T c.1124C>T p.A375V Missense 11/18 - 1
3-107491697-C-A c.1129C>A p.Q377K Missense 11/18 - 1
3-107491697-C-G c.1129C>G p.Q377E Missense 11/18 - 1
3-107491699-A-C c.1131A>C p.Q377H Missense 11/18 - 2
3-107491699-A-T c.1131A>T p.Q377H Missense 11/18 - 2
3-107491700-A-G c.1132A>G p.I378V Missense 11/18 - 1
3-107491703-G-A c.1135G>A p.D379N Missense 11/18 - 1
3-107491711-A-G c.1143A>G p.I381M Missense 11/18 - 1
3-107491712-A-G c.1144A>G p.M382V Missense 11/18 - 1
3-107491715-G-T c.1147G>T p.A383S Missense 11/18 - 1
3-107491716-GC-G c.1148del p.A383Vfs*2 Frameshift 11/18 - 1
3-107491726-G-C c.1158G>C p.M386I Missense 11/18 - 1
3-107491728-A-T c.1160A>T p.E387V Missense 11/18 - 1
3-107491730-G-T c.1162G>T p.D388Y Missense 11/18 - 1
3-107491733-C-G c.1165C>G p.P389A Missense 11/18 - 1
3-107491737-A-T c.1169A>T p.K390I Missense 11/18 - 1
3-107491739-G-T c.1171G>T p.E391* Nonsense 11/18 - 1
3-107491743-T-C c.1175T>C p.I392T Missense 11/18 - 1
3-107491746-G-A c.1178G>A p.R393K Missense 11/18 - 1
3-107491750-G-A c.1182G>A p.K394= Synonymous 11/18 - 3
3-107491751-G-T c.1183G>T p.E395* Nonsense 11/18 - 1
3-107491758-TTAG-T c.1190_1192del p.L397_E398delins* MultiAAMissense 11/18 - 1
3-107491761-A-T c.1193A>T p.E398V Missense 11/18 - 1
3-107491763-G-A c.1195G>A p.E399K Missense 11/18 - 1
3-107491758-TAGA-T c.1197_1199del p.E399del InFrameDeletion 11/18 - 9
3-107491774-A-C c.1206A>C p.K402N Missense 11/18 - 1
3-107491779-G-C c.1211G>C p.S404T Missense 11/18 - 1
3-107491781-C-G c.1213C>G p.H405D Missense 11/18 - 2
3-107491783-TTTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGA-T c.1217_1250del p.F406* Frameshift 11/18 - 1
3-107491785-TT-AA c.1217_1218inv p.F406* Nonsense 11/18 - 1
3-107491787-C-T c.1219C>T p.P407S Missense 11/18 - 1
3-107491788-C-T c.1220C>T p.P407L Missense 11/18 - 1
3-107491791-A-T c.1223A>T p.D408V Missense 11/18 - 1
3-107491797-C-T c.1229C>T p.S410F Missense 11/18 - 1
3-107491798-T-A c.1230T>A p.S410= Synonymous 11/18 - 1
3-107491798-T-C c.1230T>C p.S410= Synonymous 11/18 - 2
3-107491798-T-G c.1230T>G p.S410= Synonymous 11/18 - 1
3-107491799-T-C c.1231T>C p.Y411H Missense 11/18 - 2
3-107491801-T-C c.1233T>C p.Y411= Synonymous 11/18 - 1
3-107491804-T-A c.1236T>A p.S412= Synonymous 11/18 - 1
3-107491804-T-C c.1236T>C p.S412= Synonymous 11/18 - 1
3-107491804-T-G c.1236T>G p.S412= Synonymous 11/18 - 1
3-107491807-C-A c.1239C>A p.A413= Synonymous 11/18 - 1
3-107491807-C-G c.1239C>G p.A413= Synonymous 11/18 - 1
3-107491807-C-T c.1239C>T p.A413= Synonymous 11/18 - 1
3-107491816-G-T c.1248G>T p.K416N Missense 11/18 - 1
3-107491820-A-G c.1252A>G p.I418V Missense 11/18 - 2
3-107491827-G-A c.1259G>A p.S420N Missense 11/18 - 2
3-107491834-T-A c.1266T>A p.V422= Synonymous 11/18 - 2
3-107491834-T-C c.1266T>C p.V422= Synonymous 11/18 - 2
3-107491834-T-G c.1266T>G p.V422= Synonymous 11/18 - 2
3-107491836-C-A c.1268C>A p.P423H Missense 11/18 - 1
3-107491836-C-T c.1268C>T p.P423L Missense 11/18 - 3
3-107491837-C-A c.1269C>A p.P423= Synonymous 11/18 - 1
3-107491837-C-G c.1269C>G p.P423= Synonymous 11/18 - 1
3-107491837-C-T c.1269C>T p.P423= Synonymous 11/18 - 2
3-107491842-G-C c.1274G>C p.R425T Missense 11/18 - 1
3-107491842-G-T c.1274G>T p.R425I Missense 11/18 - 1
3-107491858-C-T c.1290C>T p.C430= Synonymous 11/18 - 3
3-107491862-C-A c.1294C>A p.P432T Missense 11/18 - 1
3-107491862-C-G c.1294C>G p.P432A Missense 11/18 - 1
3-107491862-C-T c.1294C>T p.P432S Missense 11/18 - 2
3-107491867-T-C c.1299T>C p.H433= Synonymous 11/18 - 1
3-107491871-A-G c.1303A>G p.I435V Missense 11/18 - 1
3-107491874-A-G c.1306A>G p.M436V Missense 11/18 - 1
3-107491879-C-A c.1311C>A p.I437= Synonymous 11/18 - 3
3-107491879-C-T c.1311C>T p.I437= Synonymous 11/18 - 3
3-107491881-T-C c.1313T>C p.I438T Missense 11/18 - 5
3-107491885-G-A c.1317G>A p.E439= Synonymous 11/18 - 1
3-107491888-T-C c.1320T>C p.D440= Synonymous 11/18 - 1
3-107491889-C-T c.1321C>T p.P441S Missense 11/18 - 2
3-107491892-G-A c.1324G>A p.A442T Missense 11/18 - 8
3-107491892-G-T c.1324G>T p.A442S Missense 11/18 - 2
3-107491895-G-A c.1327G>A p.A443T Missense 11/18 - 5
3-107491897-A-G c.1329A>G p.A443= Synonymous 11/18 - 2
3-107491898-T-G c.1330T>G p.L444V Missense 11/18 - 1
3-107491900-A-C c.1332A>C p.L444F Missense 11/18 - 1
3-107491905-A-G c.1337A>G p.K446R Missense 11/18 - 1
3-107491917-TA-T c.1355del p.K452Rfs*49 Frameshift 11/18 - 1
3-107491930-G-A c.1362G>A p.K454= Synonymous 11/18 - 3
3-107491930-G-C c.1362G>C p.K454N Missense 11/18 - 1
3-107491930-G-T c.1362G>T p.K454N Missense 11/18 - 1
3-107491932-A-G c.1364A>G p.K455R Missense 11/18 - 1
3-107491933-G-C c.1365G>C p.K455N Missense 11/18 - 2
3-107491933-G-T c.1365G>T p.K455N Missense 11/18 - 1
3-107491933-GA-G c.1369del p.S457Afs*44 Frameshift 11/18 - 1
3-107491938-G-A c.1370G>A p.S457N Missense 11/18 - 1
3-107491947-A-G c.1379A>G p.D460G Missense 11/18 - 1
3-107491949-CGA-TGT c.1381_1383delinsTGT p.R461C Missense 11/18 - 1
3-107491949-C-T c.1381C>T p.R461* Nonsense 11/18 - 3
3-107491950-G-A c.1382G>A p.R461Q Missense 11/18 - 3
3-107491963-T-C c.1395T>C p.D465= Synonymous 11/18 - 1
3-107491966-A-C c.1398A>C p.K466N Missense 11/18 - 1
3-107491966-A-T c.1398A>T p.K466N Missense 11/18 - 1
3-107491967-T-A c.1399T>A p.S467T Missense 11/18 - 1
3-107491967-T-C c.1399T>C p.S467P Missense 11/18 - 1
3-107491974-C-T c.1406C>T p.P469L Missense 11/18 - 2
3-107491983-ACTTGC-A c.1415_1419del p.T472Kfs*9 Frameshift 11/18 - 1
3-107491983-C-G c.1415C>G p.T472S Missense 11/18 - 1
3-107491984-T-G c.1416T>G p.T472= Synonymous 11/18 - 1
3-107491987-C-T c.1419C>T p.C473= Synonymous 11/18 - 3
3-107491989-A-G c.1421A>G p.K474R Missense 11/18 - 1
3-107491990-A-G c.1422A>G p.K474= Synonymous 11/18 - 1
3-107491993-G-A c.1425G>A p.K475= Synonymous 11/18 - 1
3-107491995-G-A c.1427G>A p.R476K Missense 11/18 - 1
3-107491995-G-T c.1427G>T p.R476M Missense 11/18 - 1
3-107492001-C-A c.1433C>A p.S478Y Missense 11/18 - 1
3-107492004-C-T c.1436C>T p.S479L Missense 11/18 - 2
3-107492007-A-G c.1439A>G p.E480G Missense 11/18 - 3
3-107492007-A-T c.1439A>T p.E480V Missense 11/18 - 2
3-107492011-T-A c.1443T>A p.S481= Synonymous 11/18 - 1
3-107492011-T-C c.1443T>C p.S481= Synonymous 11/18 - 1
3-107492011-T-G c.1443T>G p.S481= Synonymous 11/18 - 1
3-107492012-G-T c.1444G>T p.D482Y Missense 11/18 - 4
3-107492013-A-G c.1445A>G p.D482G Missense 11/18 - 2
3-107492014-C-T c.1446C>T p.D482= Synonymous 11/18 - 1
3-107492018-G-A c.1450G>A p.E484K Missense 11/18 - 2
3-107492018-G-C c.1450G>C p.E484Q Missense 11/18 - 1
3-107492019-A-G c.1451A>G p.E484G Missense 11/18 - 2
3-107492021-A-G c.1453A>G p.S485G Missense 11/18 - 1
3-107492023-C-T c.1455C>T p.S485= Synonymous 11/18 - 5
3-107492024-G-A c.1456G>A p.V486I Missense 11/18 - 1
3-107492027-ATA-TTT c.1459_1461delinsTTT p.I487F Missense 11/18 - 1
3-107492029-A-C c.1461A>C p.I487= Synonymous 11/18 - 1
3-107492029-A-T c.1461A>T p.I487= Synonymous 11/18 - 2
3-107492034-C-T c.1466C>T p.T489I Missense 11/18 - 2
3-107492035-C-A c.1467C>A p.T489= Synonymous 11/18 - 1
3-107492042-G-T c.1474G>T p.A492S Missense 11/18 - 1
3-107492044-C-A c.1476C>A p.A492= Synonymous 11/18 - 1
3-107492044-C-G c.1476C>G p.A492= Synonymous 11/18 - 1
3-107492044-C-T c.1476C>T p.A492= Synonymous 11/18 - 1
3-107492048-G-A c.1480G>A p.A494T Missense 11/18 - 3
3-107492049-C-A c.1481C>A p.A494E Missense 11/18 - 1
3-107492049-C-T c.1481C>T p.A494V Missense 11/18 - 1
3-107492058-A-T c.1490A>T p.D497V Missense 11/18 - 1
3-107492066-A-T c.1498A>T p.I500L Missense 11/18 - 1
3-107492069-G-C c.1501G>C p.E501Q Missense 11/18 - 3
3-107492070-A-T c.1502A>T p.E501V Missense 11/18 - 1
3-107492079-G-A c.1511G>A p.G504E Missense 11/18 - 1
3-107492079-G-T c.1511G>T p.G504V Missense 11/18 - 1
3-107492081-G-C c.1513G>C p.D505H Missense 11/18 - 2
3-107492085-C-G c.1517C>G p.T506S Missense 11/18 - 1
3-107492087-C-T c.1519C>T p.P507S Missense 11/18 - 3
3-107492088-C-T c.1520C>T p.P507L Missense 11/18 - 1
3-107492090-C-A c.1522C>A p.R508S Missense 11/18 - 1
3-107492090-C-T c.1522C>T p.R508C Missense 11/18 - 3
3-107492093-A-C c.1525A>C p.K509Q Missense 11/18 - 1
3-107492095-G-A c.1527G>A p.K509= Synonymous 11/18 - 1
3-107492102-C-T c.1534C>T p.R512C Missense 11/18 - 3
3-107492103-G-A c.1535G>A p.R512H Missense 11/18 - 2
3-107492110-C-T c.1542C>T p.S514= Synonymous 11/18 - 1
3-107492114-A-T c.1546A>T p.S516C Missense 11/18 - 2
3-107492115-G-A c.1547G>A p.S516N Missense 11/18 - 2
3-107492121-A-T c.1553A>T p.K518M Missense 11/18 - 1
3-107492126-AGC-TGA c.1558_1560delinsTGA p.S520* Nonsense 11/18 - 2
3-107492134-G-C c.1566G>C p.L522F Missense 11/18 - 2
3-107492134-G-T c.1566G>T p.L522F Missense 11/18 - 1
3-107492145-C-T c.1577C>T p.P526L Missense 11/18 - 1
3-107492146-AC-A c.1580del p.P527Qfs*5 Frameshift 11/18 - 1
3-107492148-C-T c.1580C>T p.P527L Missense 11/18 - 1
3-107492157-A-AAT c.1590_1591insTA p.V531* Nonsense 11/18 - 1
3-107492158-A-C c.1590A>C p.K530N Missense 11/18 - 1
3-107492158-A-T c.1590A>T p.K530N Missense 11/18 - 1
3-107492159-AG-A c.1591del p.V531* Frameshift 11/18 - 1
3-107492166-CA-GT c.1598_1599delinsGT p.S533C Missense 11/18 - 1
3-107492168-AGA-TGT c.1600_1602delinsTGT p.R534C Missense 11/18 - 2
3-107492169-G-C c.1601G>C p.R534T Missense 11/18 - 3
3-107492171-G-A c.1603G>A p.E535K Missense 11/18 - 1
3-107492171-G-C c.1603G>C p.E535Q Missense 11/18 - 1
3-107492176-AG-A c.1608del p.M538Cfs*35 Frameshift 11/18 - 1
3-107492179-A-C c.1611A>C p.K537N Missense 11/18 - 3
3-107492179-A-T c.1611A>T p.K537N Missense 11/18 - 1
3-107492182-G-A c.1614G>A p.M538I Missense 11/18 - 1
3-107492182-G-C c.1614G>C p.M538I Missense 11/18 - 1
3-107492182-G-T c.1614G>T p.M538I Missense 11/18 - 1
3-107492186-A-G c.1618A>G p.K540E Missense 11/18 - 1
3-107492195-T-C c.1627T>C p.S543P Missense 11/18 - 1
3-107492195-TC-CT c.1627_1628delinsCT p.S543L Missense 11/18 - 1
3-107492196-C-G c.1628C>G p.S543C Missense 11/18 - 1
3-107492197-C-T c.1629C>T p.S543= Synonymous 11/18 - 3
3-107492199-C-A c.1631C>A p.S544* Nonsense 11/18 - 1
3-107492199-C-G c.1631C>G p.S544* Nonsense 11/18 - 2
3-107492199-C-T c.1631C>T p.S544L Missense 11/18 - 5
3-107492200-A-C c.1632A>C p.S544= Synonymous 11/18 - 2
3-107492200-A-G c.1632A>G p.S544= Synonymous 11/18 - 2
3-107492200-A-T c.1632A>T p.S544= Synonymous 11/18 - 2
3-107492201-G-A c.1633G>A p.D545N Missense 11/18 - 2
3-107492208-C-T c.1640C>T p.T547I Missense 11/18 - 1
3-107492209-C-A c.1641C>A p.T547= Synonymous 11/18 - 1
3-107492210-A-T c.1642A>T p.K548* Nonsense 11/18 - 1
3-107492213-G-A c.1645G>A p.E549K Missense 11/18 - 1
3-107492213-G-C c.1645G>C p.E549Q Missense 11/18 - 1
3-107492213-G-T c.1645G>T p.E549* Nonsense 11/18 - 1
3-107492217-C-A c.1649C>A p.S550* Nonsense 11/18 - 1
3-107492228-G-A c.1660G>A p.D554N Missense 11/18 - 1
3-107492233-C-T c.1665C>T p.F555= Synonymous 11/18 - 1
3-107492234-A-G c.1666A>G p.I556V Missense 11/18 - 1
3-107492238-G-T c.1670G>T p.S557I Missense 11/18 - 2
3-107492244-C-T c.1676C>T p.S559F Missense 11/18 - 1
3-107492253-A-C c.1685A>C p.K562T Missense 11/18 - 1
3-107492256-A-T c.1688A>T p.N563I Missense 11/18 - 1
3-107492257-C-A c.1689C>A p.N563K Missense 11/18 - 3
3-107492258-A-G c.1690A>G p.I564V Missense 11/18 - 2
3-107492264-G-T c.1696G>T p.G566C Missense 11/18 - 1
3-107492265-G-T c.1697G>T p.G566V Missense 11/18 - 1
3-107492268-A-C c.1700A>C p.E567A Missense 11/18 - 2
3-107492271-C-A c.1703C>A p.T568K Missense 11/18 - 1
3-107492271-C-T c.1703C>T p.T568I Missense 11/18 - 2
3-107492272-A-T c.1704A>T p.T568= Synonymous 11/18 - 1
3-107492279-G-A c.1711G>A p.G571S Missense 11/18 - 4
3-107492289-C-A c.1721C>A p.A574E Missense 11/18 - 1
3-107492294-C-A c.1726C>A p.P576T Missense 11/18 - 1
3-107492294-C-T c.1726C>T p.P576S Missense 11/18 - 4
3-107492295-C-A c.1727C>A p.P576Q Missense 11/18 - 1
3-107492296-A-T c.1728A>T p.P576= Synonymous 11/18 - 1
3-107492302-C-A c.1734C>A p.T578= Synonymous 11/18 - 2
3-107492302-C-G c.1734C>G p.T578= Synonymous 11/18 - 2
3-107492302-C-T c.1734C>T p.T578= Synonymous 11/18 - 2
3-107492303-C-T c.1735C>T p.P579S Missense 11/18 - 1
3-107492306-A-G c.1738A>G p.M580V Missense 11/18 - 3
3-107492308-G-A c.1740G>A p.M580I Missense 11/18 - 1
3-107492308-G-C c.1740G>C p.M580I Missense 11/18 - 1
3-107492308-G-T c.1740G>T p.M580I Missense 11/18 - 1
3-107492311-A-G c.1743A>G p.E581= Synonymous 11/18 - 1
3-107492312-G-A c.1744G>A p.D582N Missense 11/18 - 4
3-107492318-C-T c.1750C>T p.L584= Synonymous 11/18 - 1
3-107492320-A-C c.1752A>C p.L584= Synonymous 11/18 - 1
3-107492320-A-G c.1752A>G p.L584= Synonymous 11/18 - 2
3-107492320-A-T c.1752A>T p.L584= Synonymous 11/18 - 1
3-107492321-C-T c.1753C>T p.P585S Missense 11/18 - 1
3-107492322-C-T c.1754C>T p.P585L Missense 11/18 - 1
3-107492327-A-G c.1759A>G p.S587G Missense 11/18 - 1
3-107492327-AG-GC c.1759_1760delinsGC p.S587A Missense 11/18 - 1
3-107492330-C-T c.1762C>T p.L588= Synonymous 11/18 - 1
3-107492332-A-C c.1764A>C p.L588= Synonymous 11/18 - 1
3-107492332-A-G c.1764A>G p.L588= Synonymous 11/18 - 1
3-107492332-A-T c.1764A>T p.L588= Synonymous 11/18 - 1
3-107492334-C-G c.1766C>G p.S589* Nonsense 11/18 - 1
3-107492342-G-A c.1774G>A p.A592T Missense 11/18 - 3
3-107492360-G-A c.1792G>A p.D598N Missense 11/18 - 1
3-107492368-C-A c.1800C>A p.H600Q Missense 11/18 - 1
3-107492368-C-G c.1800C>G p.H600Q Missense 11/18 - 1
3-107492374-A-C c.1806A>C p.K602N Missense 11/18 - 1
3-107492374-A-T c.1806A>T p.K602N Missense 11/18 - 1
3-107492381-A-G c.1813A>G p.T605A Missense 11/18 - 1
3-107492385-G-A c.1817G>A p.C606Y Missense 11/18 - 2
3-107492391-C-T c.1823C>T p.S608F Missense 11/18 - 2
3-107492393-A-C c.1825A>C p.R609= Synonymous 11/18 - 1
3-107492395-G-A c.1827G>A p.R609= Synonymous 11/18 - 1
3-107492402-G-A c.1834G>A p.E612K Missense 11/18 - 4
3-107492402-G-C c.1834G>C p.E612Q Missense 11/18 - 1
3-107492402-G-T c.1834G>T p.E612* Nonsense 11/18 - 3
3-107492404-G-A c.1836G>A p.E612= Synonymous 11/18 - 1
3-107492405-A-T c.1837A>T p.R613W Missense 11/18 - 1
3-107492411-T-C c.1843T>C p.C615R Missense 11/18 - 1
3-107492411-T-TG c.1844dup p.C615Wfs*7 Frameshift 11/18 - 1
3-107492413-C-T c.1845C>T p.C615= Synonymous 11/18 - 1
3-107492417-G-T c.1849G>T p.G617C Missense 11/18 - 1
3-107492423-C-T c.1855C>T p.L619F Missense 11/18 - 1
3-107492433-C-A c.1865C>A p.T622N Missense 11/18 - 1
3-107492440-G-C c.1872G>C p.V624= Synonymous 11/18 - 1
3-107492443-T-A c.1875T>A p.S625= Synonymous 11/18 - 1
3-107492443-T-C c.1875T>C p.S625= Synonymous 11/18 - 1
3-107492443-T-G c.1875T>G p.S625= Synonymous 11/18 - 1
3-107492444-G-A c.1876G>A p.E626K Missense 11/18 - 1
3-107492444-G-C c.1876G>C p.E626Q Missense 11/18 - 1
3-107492447-G-C c.1879G>C p.G627R Missense 11/18 - 1
3-107492448-G-C c.1880G>C p.G627A Missense 11/18 - 1
3-107492454-T-C c.1886T>C p.L629P Missense 11/18 - 1
3-107492456-A-T c.1888A>T p.T630S Missense 11/18 - 2
3-107492457-C-G c.1889C>G p.T630S Missense 11/18 - 1
3-107492462-C-A c.1894C>A p.L632M Missense 11/18 - 2
3-107492464-G-A c.1896G>A p.L632= Synonymous 11/18 - 1
3-107492465-C-T c.1897C>T p.R633* Nonsense 11/18 - 1
3-107492466-G-A c.1898G>A p.R633Q Missense 11/18 - 1
3-107492472-A-G c.1904A>G p.N635S Missense 11/18 - 1
3-107492474-GTT-ATG c.1906_1908delinsATG p.V636M Missense 11/18 - 1
3-107492475-T-C c.1907T>C p.V636A Missense 11/18 - 1
3-107493571-C-T c.1921C>T p.R641* Nonsense 12/18 - 3
3-107493572-G-T c.1922G>T p.R641L Missense 12/18 - 3
3-107493576-C-A c.1926C>A p.S642R Missense 12/18 - 1
3-107493577-T-C c.1927T>C p.S643P Missense 12/18 - 1
3-107493578-C-T c.1928C>T p.S643L Missense 12/18 - 1
3-107493591-C-T c.1941C>T p.N647= Synonymous 12/18 - 1
3-107493593-C-T c.1943C>T p.S648F Missense 12/18 - 2
3-107493594-C-T c.1944C>T p.S648= Synonymous 12/18 - 2
3-107493601-C-T c.1951C>T p.H651Y Missense 12/18 - 1
3-107493611-G-T c.1961G>T p.C654F Missense 12/18 - 1
3-107493617-A-G c.1967A>G p.N656S Missense 12/18 - 1
3-107493619-G-A c.1969G>A p.E657K Missense 12/18 - 1
3-107493622-G-A c.1972G>A p.E658K Missense 12/18 - 1
3-107493629-G-A c.1979G>A p.W660* Nonsense 12/18 - 1
3-107493630-G-A c.1980G>A p.W660* Nonsense 12/18 - 1
3-107493630-G-T c.1980G>T p.W660C Missense 12/18 - 1
3-107493642-G-C c.1992G>C p.Q664H Missense 12/18 - 1
3-107493656-G-A c.2006G>A p.G669E Missense 12/18 - 1
3-107493663-G-A c.2013G>A p.K671= Synonymous 12/18 - 3
3-107493684-A-G c.2034A>G p.P678= Synonymous 12/18 - 4
3-107493688-G-T c.2038G>T p.E680* Nonsense 12/18 - 1
3-107493693-C-T c.2043C>T p.D681= Synonymous 12/18 - 1
3-107493696-T-C c.2046T>C p.C682= Synonymous 12/18 - 1
3-107493699-C-T c.2049C>T p.L683= Synonymous 12/18 - 1
3-107493700-C-T c.2050C>T p.L684F Missense 12/18 - 1
3-107497209-T-C c.2055-9T>C - IntronicSNV - 12/17 1
3-107497218-C-T c.2055C>T p.G685= Synonymous 13/18 - 2
3-107497222-G-A c.2059G>A p.A687T Missense 13/18 - 1
3-107497227-G-C c.2064G>C p.K688N Missense 13/18 - 1
3-107497227-G-T c.2064G>T p.K688N Missense 13/18 - 1
3-107497231-G-A c.2068G>A p.D690N Missense 13/18 - 1
3-107497231-G-C c.2068G>C p.D690H Missense 13/18 - 1
3-107497236-A-C c.2073A>C p.E691D Missense 13/18 - 1
3-107497236-A-T c.2073A>T p.E691D Missense 13/18 - 1
3-107497237-G-A c.2074G>A p.E692K Missense 13/18 - 4
3-107497237-G-T c.2074G>T p.E692* Nonsense 13/18 - 1
3-107497239-A-AT c.2079dup p.E694* Nonsense 13/18 - 2
3-107497243-G-A c.2080G>A p.E694K Missense 13/18 - 1
3-107497247-A-G c.2084A>G p.K695R Missense 13/18 - 1
3-107497249-A-G c.2086A>G p.K696E Missense 13/18 - 1
3-107497243-GA-G c.2088del p.K696Nfs*270 Frameshift 13/18 - 3
3-107497243-G-GA c.2088dup p.F697Ifs*8 Frameshift 13/18 - 5
3-107497254-C-T c.2091C>T p.F697= Synonymous 13/18 - 2
3-107497257-C-T c.2094C>T p.N698= Synonymous 13/18 - 1
3-107497259-G-A c.2096G>A p.S699N Missense 13/18 - 1
3-107497264-C-T c.2101C>T p.P701S Missense 13/18 - 1
3-107497265-C-T c.2102C>T p.P701L Missense 13/18 - 3
3-107497267-C-A c.2104C>A p.Q702K Missense 13/18 - 1
3-107497271-A-G c.2108A>G p.Y703C Missense 13/18 - 2
3-107497275-T-C c.2112T>C p.S704= Synonymous 13/18 - 1
3-107497277-C-A c.2114C>A p.P705H Missense 13/18 - 1
3-107497277-C-T c.2114C>T p.P705L Missense 13/18 - 4
3-107497279-G-A c.2116G>A p.V706I Missense 13/18 - 1
3-107497283-C-T c.2120C>T p.T707I Missense 13/18 - 1
3-107497288-G-A c.2125G>A p.D709N Missense 13/18 - 1
3-107497291-C-T c.2128C>T p.R710W Missense 13/18 - 1
3-107497292-G-A c.2129G>A p.R710Q Missense 13/18 - 1
3-107497297-T-A c.2134T>A p.C712S Missense 13/18 - 1
3-107497300-G-C c.2137G>C p.V713L Missense 13/18 - 1
3-107497300-G-T c.2137G>T p.V713L Missense 13/18 - 1
3-107497303-C-T c.2140C>T p.P714S Missense 13/18 - 2
3-107497306-G-A c.2143G>A p.V715I Missense 13/18 - 1
3-107497307-T-C c.2144T>C p.V715A Missense 13/18 - 1
3-107497309-C-T c.2146C>T p.P716S Missense 13/18 - 2
3-107497315-A-C c.2152A>C p.K718Q Missense 13/18 - 1
3-107497320-AG-A c.2157del p.K720Rfs*246 Frameshift 13/18 - 1
3-107497324-A-T c.2161A>T p.K721* Nonsense 13/18 - 1
3-107497325-A-C c.2162A>C p.K721T Missense 13/18 - 1
3-107497327-A-G c.2164A>G p.T722A Missense 13/18 - 1
3-107497329-T-A c.2166T>A p.T722= Synonymous 13/18 - 1
3-107497329-T-C c.2166T>C p.T722= Synonymous 13/18 - 1
3-107497329-T-G c.2166T>G p.T722= Synonymous 13/18 - 1
3-107497334-A-G c.2171A>G p.N724S Missense 13/18 - 1
3-107497336-G-A c.2173G>A p.V725M Missense 13/18 - 1
3-107497345-G-T c.2182G>T p.E728* Nonsense 13/18 - 3
3-107497348-C-T c.2185C>T p.P729S Missense 13/18 - 1
3-107497349-C-T c.2186C>T p.P729L Missense 13/18 - 4
3-107497350-G-A c.2187G>A p.P729= Synonymous 13/18 - 1
3-107497350-G-C c.2187G>C p.P729= Synonymous 13/18 - 2
3-107497350-G-T c.2187G>T p.P729= Synonymous 13/18 - 1
3-107497354-A-G c.2191A>G p.K731E Missense 13/18 - 1
3-107497360-AG-CT c.2197_2198inv p.S733L Missense 13/18 - 1
3-107497360-A-T c.2197A>T p.S733C Missense 13/18 - 1
3-107497362-C-T c.2199C>T p.S733= Synonymous 13/18 - 1
3-107497367-G-T c.2203+1G>T - IntronicSNV - 13/17 1
3-107508634-G-A c.2204G>A p.G735D Missense 14/18 - 1
3-107508636-C-T c.2206C>T p.P736S Missense 14/18 - 1
3-107508650-AG-A c.2220del p.K742Rfs*224 Frameshift 14/18 - 1
3-107508663-T-G c.2233T>G p.F745V Missense 14/18 - 1
3-107508672-A-C c.2242A>C p.I748L Missense 14/18 - 1
3-107508704-G-T c.2274G>T p.K758N Missense 14/18 - 2
3-107508706-C-T c.2276C>T p.P759L Missense 14/18 - 1
3-107508707-C-T c.2277C>T p.P759= Synonymous 14/18 - 2
3-107508711-G-A c.2281G>A p.V761I Missense 14/18 - 1
3-107508714-C-T c.2284C>T p.P762S Missense 14/18 - 2
3-107508715-C-T c.2285C>T p.P762L Missense 14/18 - 2
3-107508720-AA-CC c.2290_2291delinsCC p.K764P Missense 14/18 - 1
3-107508742-C-T c.2293+19C>T - IntronicSNV - 14/17 1
3-107508772-G-T c.2293+49G>T - IntronicSNV - 14/17 1
3-107510089-AG-CT c.2296_2297inv p.S766L Missense 15/18 - 1
3-107510092-G-A c.2299G>A p.G767R Missense 15/18 - 1
3-107510092-G-C c.2299G>C p.G767R Missense 15/18 - 2
3-107510093-G-A c.2300G>A p.G767E Missense 15/18 - 1
3-107510093-G-T c.2300G>T p.G767V Missense 15/18 - 1
3-107510099-A-C c.2306A>C p.K769T Missense 15/18 - 1
3-107510116-C-T c.2323C>T p.L775F Missense 15/18 - 1
3-107510118-C-T c.2325C>T p.L775= Synonymous 15/18 - 1
3-107510129-C-T c.2336C>T p.A779V Missense 15/18 - 1
3-107510138-C-T c.2345C>T p.P782L Missense 15/18 - 2
3-107510199-A-G c.2353+53A>G - IntronicSNV - 15/17 1
3-107510403-G-A c.2353+257G>A - IntronicSNV - 15/17 1
3-107510457-G-A c.2353+311G>A - IntronicSNV - 15/17 1
3-107511082-G-C c.2353+936G>C - IntronicSNV - 15/17 1
3-107512703-C-CT c.2353+2565dup - IntronicInsertion - 15/17 1
3-107513287-A-G c.2353+3141A>G - IntronicSNV - 15/17 1
3-107513286-GA-G c.2353+3150del - IntronicDeletion - 15/17 1
3-107514134-T-C c.2354-3236T>C - IntronicSNV - 15/17 1
3-107516847-A-G c.2354-523A>G - IntronicSNV - 15/17 1
3-107517370-C-T c.2354C>T p.A785V Missense 16/18 - 2
3-107517384-G-C c.2368G>C p.D790H Missense 16/18 - 1
3-107517392-C-T c.2376C>T p.N792= Synonymous 16/18 - 1
3-107517405-G-A c.2389G>A p.V797I Missense 16/18 - 1
3-107517405-G-C c.2389G>C p.V797L Missense 16/18 - 1
3-107517406-T-C c.2390T>C p.V797A Missense 16/18 - 1
3-107517407-T-A c.2391T>A p.V797= Synonymous 16/18 - 1
3-107517407-T-C c.2391T>C p.V797= Synonymous 16/18 - 1
3-107517407-T-G c.2391T>G p.V797= Synonymous 16/18 - 1
3-107517414-G-A c.2398G>A p.V800I Missense 16/18 - 1
3-107517424-T-C c.2408T>C p.I803T Missense 16/18 - 1
3-107517427-C-T c.2411C>T p.P804L Missense 16/18 - 2
3-107517431-C-A c.2415C>A p.S805= Synonymous 16/18 - 1
3-107517431-C-G c.2415C>G p.S805= Synonymous 16/18 - 1
3-107517431-C-T c.2415C>T p.S805= Synonymous 16/18 - 1
3-107517460-C-T c.2444C>T p.T815M Missense 16/18 - 6
3-107517461-G-T c.2445G>T p.T815= Synonymous 16/18 - 1
3-107517465-G-A c.2449G>A p.E817K Missense 16/18 - 3
3-107517479-C-T c.2463C>T p.G821= Synonymous 16/18 - 1
3-107517483-C-G c.2467C>G p.Q823E Missense 16/18 - 1
3-107517498-AGG-TGT c.2482_2484delinsTGT p.R828C Missense 16/18 - 1
3-107517499-G-T c.2483G>T p.R828M Missense 16/18 - 3
3-107517503-A-C c.2487A>C p.K829N Missense 16/18 - 1
3-107517506-C-T c.2490C>T p.T830= Synonymous 16/18 - 1
3-107517519-C-T c.2503C>T p.L835F Missense 16/18 - 2
3-107517526-G-A c.2510G>A p.R837K Missense 16/18 - 3
3-107517531-G-A c.2515G>A p.A839T Missense 16/18 - 1
3-107517543-G-A c.2527G>A p.V843I Missense 16/18 - 1
3-107517545-A-G c.2529A>G p.V843= Synonymous 16/18 - 1
3-107517547-C-A c.2531C>A p.S844* Nonsense 16/18 - 1
3-107517556-G-A c.2540G>A p.G847E Missense 16/18 - 1
3-107517567-G-A c.2551G>A p.D851N Missense 16/18 - 1
3-107517567-G-T c.2551G>T p.D851Y Missense 16/18 - 1
3-107517599-TCC-T c.2551+32_2551+33del - IntronicDeletion - 16/17 1
3-107517674-CCAA-C c.2551+107_2551+109del - IntronicDeletion - 16/17 1
3-107517751-G-A c.2551+184G>A - IntronicSNV - 16/17 1
3-107519777-A-G c.2552-165A>G - IntronicSNV - 16/17 2
3-107519777-A-T c.2552-165A>T - IntronicSNV - 16/17 2
3-107519843-T-C c.2552-99T>C - IntronicSNV - 16/17 5
3-107519950-C-T c.2560C>T p.P854S Missense 17/18 - 1
3-107519956-G-A c.2566G>A p.E856K Missense 17/18 - 1
3-107519962-CTG-TTT c.2572_2574delinsTTT p.L858F Missense 17/18 - 1
3-107519968-A-C c.2578A>C p.R860= Synonymous 17/18 - 1
3-107519970-G-A c.2580G>A p.R860= Synonymous 17/18 - 1
3-107519972-G-T c.2582G>T p.S861I Missense 17/18 - 1
3-107519974-C-T c.2584C>T p.L862F Missense 17/18 - 3
3-107519976-C-A c.2586C>A p.L862= Synonymous 17/18 - 2
3-107519976-C-G c.2586C>G p.L862= Synonymous 17/18 - 1
3-107519976-C-T c.2586C>T p.L862= Synonymous 17/18 - 2
3-107519980-A-G c.2590A>G p.K864E Missense 17/18 - 1
3-107519983-G-A c.2593G>A p.A865T Missense 17/18 - 1
3-107519991-G-C c.2601G>C p.E867D Missense 17/18 - 1
3-107519991-G-T c.2601G>T p.E867D Missense 17/18 - 1
3-107519997-C-T c.2607C>T p.D869= Synonymous 17/18 - 1
3-107520000-C-T c.2610C>T p.C870= Synonymous 17/18 - 1
3-107520009-A-G c.2619A>G p.K873= Synonymous 17/18 - 2
3-107520010-T-A c.2620T>A p.C874S Missense 17/18 - 1
3-107520011-G-C c.2621G>C p.C874S Missense 17/18 - 1
3-107520028-G-T c.2638G>T p.V880F Missense 17/18 - 1
3-107520030-C-A c.2640C>A p.V880= Synonymous 17/18 - 1
3-107520030-C-G c.2640C>G p.V880= Synonymous 17/18 - 1
3-107520030-C-T c.2640C>T p.V880= Synonymous 17/18 - 3
3-107520031-G-A c.2641G>A p.G881R Missense 17/18 - 1
3-107520032-G-A c.2642G>A p.G881E Missense 17/18 - 3
3-107520033-G-A c.2643G>A p.G881= Synonymous 17/18 - 1
3-107520040-C-A c.2650C>A p.R884= Synonymous 17/18 - 1
3-107520042-G-A c.2652G>A p.R884= Synonymous 17/18 - 1
3-107520042-G-C c.2652G>C p.R884= Synonymous 17/18 - 1
3-107520042-G-T c.2652G>T p.R884= Synonymous 17/18 - 1
3-107520041-G-A c.2651G>A p.R884Q Missense 17/18 - 2
3-107520043-A-C c.2653A>C p.S885R Missense 17/18 - 1
3-107520045-C-A c.2655C>A p.S885R Missense 17/18 - 1
3-107520045-C-G c.2655C>G p.S885R Missense 17/18 - 1
3-107520045-C-T c.2655C>T p.S885= Synonymous 17/18 - 1
3-107520049-A-T c.2659A>T p.T887S Missense 17/18 - 2
3-107520052-C-A c.2662C>A p.P888T Missense 17/18 - 1
3-107520065-C-T c.2675C>T p.A892V Missense 17/18 - 3
3-107520066-C-T c.2676C>T p.A892= Synonymous 17/18 - 2
3-107520067-G-A c.2677G>A p.V893M Missense 17/18 - 1
3-107520070-T-A c.2680T>A p.S894T Missense 17/18 - 1
3-107520070-TC-AT c.2680_2681delinsAT p.S894I Missense 17/18 - 1
3-107520076-T-C c.2686T>C p.F896L Missense 17/18 - 2
3-107520081-T-C c.2691T>C p.F897= Synonymous 17/18 - 1
3-107520089-C-T c.2699C>T p.A900V Missense 17/18 - 1
3-107520092-C-T c.2702C>T p.A901V Missense 17/18 - 1
3-107520106-G-A c.2716G>A p.A906T Missense 17/18 - 1
3-107520107-C-T c.2717C>T p.A906V Missense 17/18 - 1
3-107520111-C-T c.2721C>T p.A907= Synonymous 17/18 - 1
3-107520115-G-C c.2725G>C p.E909Q Missense 17/18 - 1
3-107520121-GTG-ATC c.2731_2733delinsATC p.V911I Missense 17/18 - 1
3-107520123-G-A c.2733G>A p.V911= Synonymous 17/18 - 1
3-107520123-G-T c.2733G>T p.V911= Synonymous 17/18 - 1
3-107520126-C-A c.2736C>A p.H912Q Missense 17/18 - 3
3-107520126-C-G c.2736C>G p.H912Q Missense 17/18 - 2
3-107524097-A-C c.2739-120A>C - IntronicSNV - 17/17 1
3-107524097-A-G c.2739-120A>G - IntronicSNV - 17/17 1
3-107524110-C-T c.2739-107C>T - IntronicSNV - 17/17 2
3-107524112-G-GT c.2739-104dup - IntronicInsertion - 17/17 2
3-107524226-G-T c.2748G>T p.R916S Missense 18/18 - 2
3-107524234-C-T c.2756C>T p.P919L Missense 18/18 - 3
3-107524235-G-A c.2757G>A p.P919= Synonymous 18/18 - 1
3-107524235-G-T c.2757G>T p.P919= Synonymous 18/18 - 1
3-107524238-C-T c.2760C>T p.L920= Synonymous 18/18 - 4
3-107524254-C-G c.2776C>G p.P926A Missense 18/18 - 3
3-107524260-G-A c.2782G>A p.E928K Missense 18/18 - 1
3-107524263-A-C c.2785A>C p.M929L Missense 18/18 - 1
3-107524263-A-T c.2785A>T p.M929L Missense 18/18 - 1
3-107524264-T-C c.2786T>C p.M929T Missense 18/18 - 1
3-107524267-C-T c.2789C>T p.P930L Missense 18/18 - 1
3-107524268-G-A c.2790G>A p.P930= Synonymous 18/18 - 1
3-107524268-G-C c.2790G>C p.P930= Synonymous 18/18 - 1
3-107524268-G-T c.2790G>T p.P930= Synonymous 18/18 - 3
3-107524269-C-T c.2791C>T p.Q931* Nonsense 18/18 - 1
3-107524275-C-A c.2797C>A p.P933T Missense 18/18 - 3
3-107524276-C-T c.2798C>T p.P933L Missense 18/18 - 1
3-107524278-G-A c.2800G>A p.V934I Missense 18/18 - 1
3-107524288-C-T c.2810C>T p.S937F Missense 18/18 - 6
3-107524289-C-T c.2811C>T p.S937= Synonymous 18/18 - 3
3-107524292-C-T c.2814C>T p.C938= Synonymous 18/18 - 3
3-107524293-G-A c.2815G>A p.A939T Missense 18/18 - 5
3-107524294-C-A c.2816C>A p.A939D Missense 18/18 - 1
3-107524298-C-A c.2820C>A p.D940E Missense 18/18 - 1
3-107525789-C-T c.*1485C>T - 3-UTRSNV 18/18 - 1
3-107526033-T-A c.*1729T>A - 3-UTRSNV 18/18 - 2
3-107526182-T-C c.*1878T>C - 3-UTRSNV 18/18 - 1
3-107526407-G-A c.*2103G>A - 3-UTRSNV 18/18 - 1
3-107526455-G-A c.*2151G>A - 3-UTRSNV 18/18 - 1
3-107526557-T-A c.*2253T>A - 3-UTRSNV 18/18 - 1
3-107526863-A-T c.*2559A>T - 3-UTRSNV 18/18 - 3
3-107529058-A-T c.*4754A>T - 3-UTRSNV 18/18 - 3