KIT

KIT KIT proto-oncogene, receptor tyrosine kinase

Annotation transcript: NM_000222.3

9466 unique variant annotations were identified in 3798 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
4-55524161-G-T c.-21G>T - 5-UTRSNV 1/21 - 1
4-55524168-T-A c.-14T>A - 5-UTRSNV 1/21 - 5
4-55524168-T-C c.-14T>C - 5-UTRSNV 1/21 - 5
4-55524182-GA-G c.1del p.M1? CdsStartDeletion 1/21 - 1
4-55524185-A-G c.4A>G p.R2G Missense 1/21 - 1
4-55524185-AG-CC c.4_5delinsCC p.R2P Missense 1/21 - 1
4-55524186-G-A c.5G>A p.R2K Missense 1/21 - 1
4-55524186-G-C c.5G>C p.R2T Missense 1/21 - 1
4-55524186-G-T c.5G>T p.R2I Missense 1/21 - 1
4-55524185-A-C c.4A>C p.R2= Synonymous 1/21 - 43
4-55524187-A-G c.6A>G p.R2= Synonymous 1/21 - 42
4-55524188-G-T c.7G>T p.G3C Missense 1/21 - 1
4-55524189-G-A c.8G>A p.G3D Missense 1/21 - 1
4-55524190-C-A c.9C>A p.G3= Synonymous 1/21 - 3
4-55524190-C-G c.9C>G p.G3= Synonymous 1/21 - 3
4-55524190-C-T c.9C>T p.G3= Synonymous 1/21 - 3
4-55524190-GC-G c.9del p.A4Lfs*26 Frameshift 1/21 - 1
4-55524192-C-T c.11C>T p.A4V Missense 1/21 - 1
4-55524192-CT-AG c.11_12inv p.A4E Missense 1/21 - 1
4-55524194-C-G c.13C>G p.R5G Missense 1/21 - 1
4-55524194-C-T c.13C>T p.R5C Missense 1/21 - 3
4-55524195-G-A c.14G>A p.R5H Missense 1/21 - 2
4-55524196-C-A c.15C>A p.R5= Synonymous 1/21 - 3
4-55524196-C-G c.15C>G p.R5= Synonymous 1/21 - 3
4-55524196-C-T c.15C>T p.R5= Synonymous 1/21 - 5
4-55524197-G-A c.16G>A p.G6S Missense 1/21 - 1
4-55524198-G-A c.17G>A p.G6D Missense 1/21 - 3
4-55524197-GGCGCCT-G c.18_23del p.A7_W8del InFrameDeletion 1/21 - 1
4-55524200-G-A c.19G>A p.A7T Missense 1/21 - 2
4-55524201-C-A c.20C>A p.A7D Missense 1/21 - 1
4-55524202-C-A c.21C>A p.A7= Synonymous 1/21 - 1
4-55524203-CTGGGATTTTCTCTGCGTTCTGCTCCTACTGCTTCGCGTCCAGACAGGTGGGACACCGCG-C c.22_67+13del - SpliceDonorDeletion 1/21 1/20 1
4-55524203-T-C c.22T>C p.W8R Missense 1/21 - 1
4-55524204-G-A c.23G>A p.W8* Nonsense 1/21 - 2
4-55524204-G-T c.23G>T p.W8L Missense 1/21 - 2
4-55524205-G-A c.24G>A p.W8* Nonsense 1/21 - 1
4-55524206-G-A c.25G>A p.D9N Missense 1/21 - 5
4-55524207-GA-G c.26del p.D9Vfs*21 Frameshift 1/21 - 1
4-55524208-T-A c.27T>A p.D9E Missense 1/21 - 1
4-55524208-T-C c.27T>C p.D9= Synonymous 1/21 - 1
4-55524208-T-G c.27T>G p.D9E Missense 1/21 - 1
4-55524209-TT-AA c.28_29inv p.F10N Missense 1/21 - 1
4-55524209-TT-AC c.28_29delinsAC p.F10T Missense 1/21 - 2
4-55524209-TT-GC c.28_29delinsGC p.F10A Missense 1/21 - 2
4-55524210-T-C c.29T>C p.F10S Missense 1/21 - 1
4-55524212-C-A c.31C>A p.L11I Missense 1/21 - 2
4-55524214-C-A c.33C>A p.L11= Synonymous 1/21 - 1
4-55524214-C-G c.33C>G p.L11= Synonymous 1/21 - 1
4-55524214-C-T c.33C>T p.L11= Synonymous 1/21 - 1
4-55524215-T-A c.34T>A p.C12S Missense 1/21 - 2
4-55524215-T-G c.34T>G p.C12G Missense 1/21 - 1
4-55524215-TG-CA c.34_35inv p.C12H Missense 1/21 - 1
4-55524215-TG-GT c.34_35delinsGT p.C12V Missense 1/21 - 1
4-55524216-G-A c.35G>A p.C12Y Missense 1/21 - 6
4-55524216-G-C c.35G>C p.C12S Missense 1/21 - 3
4-55524216-G-T c.35G>T p.C12F Missense 1/21 - 5
4-55524216-TG-T c.35del p.C12Sfs*18 Frameshift 1/21 - 1
4-55524217-C-T c.36C>T p.C12= Synonymous 1/21 - 1
4-55524218-G-A c.37G>A p.V13I Missense 1/21 - 4
4-55524218-G-C c.37G>C p.V13L Missense 1/21 - 2
4-55524218-G-T c.37G>T p.V13F Missense 1/21 - 1
4-55524219-T-A c.38T>A p.V13D Missense 1/21 - 1
4-55524219-T-C c.38T>C p.V13A Missense 1/21 - 1
4-55524221-C-G c.40C>G p.L14V Missense 1/21 - 3
4-55524221-C-T c.40C>T p.L14= Synonymous 1/21 - 1
4-55524222-T-A c.41T>A p.L14Q Missense 1/21 - 1
4-55524222-T-G c.41T>G p.L14R Missense 1/21 - 5
4-55524224-C-G c.43C>G p.L15V Missense 1/21 - 1
4-55524225-T-C c.44T>C p.L15P Missense 1/21 - 1
4-55524226-C-A c.45C>A p.L15= Synonymous 1/21 - 1
4-55524226-C-G c.45C>G p.L15= Synonymous 1/21 - 1
4-55524226-C-T c.45C>T p.L15= Synonymous 1/21 - 3
4-55524230-C-A c.49C>A p.L17M Missense 1/21 - 1
4-55524231-T-C c.50T>C p.L17P Missense 1/21 - 2
4-55524230-C-T c.49C>T p.L17= Synonymous 1/21 - 2
4-55524233-C-T c.52C>T p.L18F Missense 1/21 - 2
4-55524233-CT-GC c.52_53delinsGC p.L18A Missense 1/21 - 1
4-55524234-T-C c.53T>C p.L18P Missense 1/21 - 1
4-55524236-C-G c.55C>G p.R19G Missense 1/21 - 2
4-55524236-CGC-ATG c.55_57delinsATG p.R19M Missense 1/21 - 1
4-55524236-CG-GC c.55_56delinsGC p.R19A Missense 1/21 - 1
4-55524236-C-T c.55C>T p.R19C Missense 1/21 - 12
4-55524236-TCGC-T c.55_57del p.R19del InFrameDeletion 1/21 - 2
4-55524237-G-A c.56G>A p.R19H Missense 1/21 - 7
4-55524237-G-T c.56G>T p.R19L Missense 1/21 - 2
4-55524239-G-A c.58G>A p.V20I Missense 1/21 - 3
4-55524240-T-G c.59T>G p.V20G Missense 1/21 - 1
4-55524241-C-T c.60C>T p.V20= Synonymous 1/21 - 1
4-55524242-C-A c.61C>A p.Q21K Missense 1/21 - 1
4-55524242-CAG-GAC c.61_63delinsGAC p.Q21D Missense 1/21 - 14
4-55524243-A-C c.62A>C p.Q21P Missense 1/21 - 2
4-55524244-G-C c.63G>C p.Q21H Missense 1/21 - 1
4-55524244-G-T c.63G>T p.Q21H Missense 1/21 - 1
4-55524245-A-G c.64A>G p.T22A Missense 1/21 - 5
4-55524246-C-T c.65C>T p.T22I Missense 1/21 - 2
4-55524248-G-A c.67G>A p.G23S Missense 1/21 - 5
4-55524248-G-C c.67G>C p.G23R Missense 1/21 - 1
4-55524252-G-A c.67+4G>A - IntronicSNV - 1/20 8
4-55524252-G-C c.67+4G>C - IntronicSNV - 1/20 4
4-55524258-C-T c.67+10C>T - IntronicSNV - 1/20 1
4-55524304-T-C c.67+56T>C - IntronicSNV - 1/20 11
4-55524338-A-G c.67+90A>G - IntronicSNV - 1/20 1
4-55524355-C-T c.67+107C>T - IntronicSNV - 1/20 1
4-55524464-A-G c.67+216A>G - IntronicSNV - 1/20 1
4-55524533-C-G c.67+285C>G - IntronicSNV - 1/20 2
4-55524576-G-A c.67+328G>A - IntronicSNV - 1/20 1
4-55524576-G-T c.67+328G>T - IntronicSNV - 1/20 1
4-55524721-CAAAGTT-C c.67+475_67+480del - IntronicDeletion - 1/20 1
4-55524733-G-A c.67+485G>A - IntronicSNV - 1/20 1
4-55524733-G-T c.67+485G>T - IntronicSNV - 1/20 1
4-55524935-G-A c.67+687G>A - IntronicSNV - 1/20 1
4-55524935-G-T c.67+687G>T - IntronicSNV - 1/20 1
4-55525080-C-T c.67+832C>T - IntronicSNV - 1/20 1
4-55525153-A-G c.67+905A>G - IntronicSNV - 1/20 1
4-55525660-T-G c.67+1412T>G - IntronicSNV - 1/20 1
4-55525833-T-C c.67+1585T>C - IntronicSNV - 1/20 1
4-55525930-A-C c.67+1682A>C - IntronicSNV - 1/20 2
4-55525932-C-G c.67+1684C>G - IntronicSNV - 1/20 1
4-55525986-G-T c.67+1738G>T - IntronicSNV - 1/20 1
4-55526251-G-T c.67+2003G>T - IntronicSNV - 1/20 1
4-55526615-C-T c.67+2367C>T - IntronicSNV - 1/20 1
4-55526694-G-A c.67+2446G>A - IntronicSNV - 1/20 1
4-55526702-A-G c.67+2454A>G - IntronicSNV - 1/20 1
4-55526702-A-T c.67+2454A>T - IntronicSNV - 1/20 1
4-55526788-G-A c.67+2540G>A - IntronicSNV - 1/20 1
4-55526920-G-T c.67+2672G>T - IntronicSNV - 1/20 1
4-55526962-G-T c.67+2714G>T - IntronicSNV - 1/20 1
4-55527020-T-G c.67+2772T>G - IntronicSNV - 1/20 1
4-55527065-A-G c.67+2817A>G - IntronicSNV - 1/20 1
4-55527374-T-C c.67+3126T>C - IntronicSNV - 1/20 1
4-55527627-G-A c.67+3379G>A - IntronicSNV - 1/20 1
4-55527961-T-C c.67+3713T>C - IntronicSNV - 1/20 1
4-55528079-C-T c.67+3831C>T - IntronicSNV - 1/20 1
4-55528291-T-A c.67+4043T>A - IntronicSNV - 1/20 1
4-55528291-T-C c.67+4043T>C - IntronicSNV - 1/20 1
4-55528307-G-A c.67+4059G>A - IntronicSNV - 1/20 1
4-55528653-G-A c.67+4405G>A - IntronicSNV - 1/20 1
4-55528653-G-T c.67+4405G>T - IntronicSNV - 1/20 1
4-55528680-C-T c.67+4432C>T - IntronicSNV - 1/20 1
4-55528738-AT-A c.67+4498del - IntronicDeletion - 1/20 1
4-55528863-T-C c.67+4615T>C - IntronicSNV - 1/20 1
4-55529161-A-C c.67+4913A>C - IntronicSNV - 1/20 2
4-55529161-A-G c.67+4913A>G - IntronicSNV - 1/20 2
4-55529161-A-T c.67+4913A>T - IntronicSNV - 1/20 2
4-55529162-A-G c.67+4914A>G - IntronicSNV - 1/20 1
4-55529163-A-AG c.67+4915_67+4916insG - IntronicInsertion - 1/20 1
4-55529163-A-G c.67+4915A>G - IntronicSNV - 1/20 1
4-55529270-A-C c.67+5022A>C - IntronicSNV - 1/20 1
4-55529409-G-A c.67+5161G>A - IntronicSNV - 1/20 1
4-55529409-G-C c.67+5161G>C - IntronicSNV - 1/20 1
4-55529409-G-T c.67+5161G>T - IntronicSNV - 1/20 1
4-55530137-G-A c.67+5889G>A - IntronicSNV - 1/20 1
4-55530881-C-T c.67+6633C>T - IntronicSNV - 1/20 1
4-55531116-T-A c.67+6868T>A - IntronicSNV - 1/20 1
4-55531116-T-C c.67+6868T>C - IntronicSNV - 1/20 1
4-55531121-G-A c.67+6873G>A - IntronicSNV - 1/20 1
4-55531458-A-G c.67+7210A>G - IntronicSNV - 1/20 1
4-55531680-C-T c.67+7432C>T - IntronicSNV - 1/20 1
4-55531875-T-C c.67+7627T>C - IntronicSNV - 1/20 1
4-55532448-T-A c.67+8200T>A - IntronicSNV - 1/20 1
4-55532448-T-C c.67+8200T>C - IntronicSNV - 1/20 1
4-55532448-T-G c.67+8200T>G - IntronicSNV - 1/20 1
4-55532548-T-A c.67+8300T>A - IntronicSNV - 1/20 1
4-55532548-T-C c.67+8300T>C - IntronicSNV - 1/20 1
4-55533116-C-T c.67+8868C>T - IntronicSNV - 1/20 1
4-55533551-T-A c.67+9303T>A - IntronicSNV - 1/20 1
4-55533551-T-G c.67+9303T>G - IntronicSNV - 1/20 1
4-55533583-G-A c.67+9335G>A - IntronicSNV - 1/20 1
4-55533621-A-C c.67+9373A>C - IntronicSNV - 1/20 1
4-55533621-A-T c.67+9373A>T - IntronicSNV - 1/20 1
4-55533654-G-A c.67+9406G>A - IntronicSNV - 1/20 1
4-55533724-T-A c.67+9476T>A - IntronicSNV - 1/20 1
4-55533724-T-G c.67+9476T>G - IntronicSNV - 1/20 1
4-55533793-C-T c.67+9545C>T - IntronicSNV - 1/20 1
4-55533820-C-T c.67+9572C>T - IntronicSNV - 1/20 1
4-55534899-T-C c.67+10651T>C - IntronicSNV - 1/20 1
4-55534933-A-G c.67+10685A>G - IntronicSNV - 1/20 1
4-55535316-A-T c.67+11068A>T - IntronicSNV - 1/20 1
4-55535336-G-A c.67+11088G>A - IntronicSNV - 1/20 1
4-55535336-G-C c.67+11088G>C - IntronicSNV - 1/20 1
4-55536275-A-G c.67+12027A>G - IntronicSNV - 1/20 1
4-55536375-T-G c.67+12127T>G - IntronicSNV - 1/20 1
4-55537014-T-C c.67+12766T>C - IntronicSNV - 1/20 3
4-55537273-C-T c.67+13025C>T - IntronicSNV - 1/20 1
4-55537481-C-G c.67+13233C>G - IntronicSNV - 1/20 2
4-55537481-C-T c.67+13233C>T - IntronicSNV - 1/20 2
4-55537647-A-C c.67+13399A>C - IntronicSNV - 1/20 1
4-55537647-A-T c.67+13399A>T - IntronicSNV - 1/20 1
4-55538066-T-C c.67+13818T>C - IntronicSNV - 1/20 1
4-55538347-G-C c.67+14099G>C - IntronicSNV - 1/20 1
4-55538526-T-C c.67+14278T>C - IntronicSNV - 1/20 1
4-55538572-C-T c.67+14324C>T - IntronicSNV - 1/20 1
4-55538880-T-C c.67+14632T>C - IntronicSNV - 1/20 1
4-55538911-C-A c.67+14663C>A - IntronicSNV - 1/20 1
4-55538911-C-G c.67+14663C>G - IntronicSNV - 1/20 1
4-55539253-A-G c.67+15005A>G - IntronicSNV - 1/20 1
4-55539253-A-T c.67+15005A>T - IntronicSNV - 1/20 1
4-55539264-C-T c.67+15016C>T - IntronicSNV - 1/20 1
4-55539622-T-C c.67+15374T>C - IntronicSNV - 1/20 1
4-55540061-G-A c.67+15813G>A - IntronicSNV - 1/20 1
4-55540061-G-C c.67+15813G>C - IntronicSNV - 1/20 1
4-55540148-A-G c.67+15900A>G - IntronicSNV - 1/20 1
4-55540148-A-T c.67+15900A>T - IntronicSNV - 1/20 1
4-55540299-T-A c.67+16051T>A - IntronicSNV - 1/20 1
4-55540298-CT-C c.67+16059del - IntronicDeletion - 1/20 1
4-55540801-A-G c.67+16553A>G - IntronicSNV - 1/20 1
4-55540960-C-T c.67+16712C>T - IntronicSNV - 1/20 1
4-55540973-A-G c.67+16725A>G - IntronicSNV - 1/20 1
4-55541165-C-T c.67+16917C>T - IntronicSNV - 1/20 1
4-55541178-C-A c.67+16930C>A - IntronicSNV - 1/20 1
4-55541178-C-G c.67+16930C>G - IntronicSNV - 1/20 1
4-55541408-G-A c.67+17160G>A - IntronicSNV - 1/20 1
4-55541879-T-C c.67+17631T>C - IntronicSNV - 1/20 3
4-55541912-G-A c.67+17664G>A - IntronicSNV - 1/20 1
4-55542322-G-C c.67+18074G>C - IntronicSNV - 1/20 1
4-55542595-A-G c.67+18347A>G - IntronicSNV - 1/20 1
4-55542808-T-TCCTA c.67+18563_67+18566dup - IntronicInsertion - 1/20 1
4-55542828-G-T c.67+18580G>T - IntronicSNV - 1/20 1
4-55542869-G-A c.67+18621G>A - IntronicSNV - 1/20 1
4-55542898-C-G c.67+18650C>G - IntronicSNV - 1/20 1
4-55543065-C-T c.68-18613C>T - IntronicSNV - 1/20 1
4-55543415-C-T c.68-18263C>T - IntronicSNV - 1/20 1
4-55543668-A-T c.68-18010A>T - IntronicSNV - 1/20 1
4-55543701-G-A c.68-17977G>A - IntronicSNV - 1/20 1
4-55543834-C-T c.68-17844C>T - IntronicSNV - 1/20 1
4-55543929-T-G c.68-17749T>G - IntronicSNV - 1/20 1
4-55544153-T-C c.68-17525T>C - IntronicSNV - 1/20 1
4-55544318-G-A c.68-17360G>A - IntronicSNV - 1/20 1
4-55544508-T-C c.68-17170T>C - IntronicSNV - 1/20 1
4-55544508-T-G c.68-17170T>G - IntronicSNV - 1/20 1
4-55544580-G-A c.68-17098G>A - IntronicSNV - 1/20 1
4-55546684-A-G c.68-14994A>G - IntronicSNV - 1/20 1
4-55546718-C-T c.68-14960C>T - IntronicSNV - 1/20 1
4-55546733-A-G c.68-14945A>G - IntronicSNV - 1/20 1
4-55546998-A-G c.68-14680A>G - IntronicSNV - 1/20 1
4-55547380-T-C c.68-14298T>C - IntronicSNV - 1/20 1
4-55547380-T-G c.68-14298T>G - IntronicSNV - 1/20 1
4-55547533-G-A c.68-14145G>A - IntronicSNV - 1/20 1
4-55548258-T-TTC c.68-13419_68-13418insCT - IntronicInsertion - 1/20 1
4-55548416-T-A c.68-13262T>A - IntronicSNV - 1/20 1
4-55548416-T-C c.68-13262T>C - IntronicSNV - 1/20 1
4-55548475-T-C c.68-13203T>C - IntronicSNV - 1/20 3
4-55548752-C-T c.68-12926C>T - IntronicSNV - 1/20 1
4-55548847-C-G c.68-12831C>G - IntronicSNV - 1/20 1
4-55548847-C-T c.68-12831C>T - IntronicSNV - 1/20 1
4-55549124-A-C c.68-12554A>C - IntronicSNV - 1/20 1
4-55549124-A-G c.68-12554A>G - IntronicSNV - 1/20 1
4-55549124-A-T c.68-12554A>T - IntronicSNV - 1/20 1
4-55549352-T-C c.68-12326T>C - IntronicSNV - 1/20 1
4-55549509-G-T c.68-12169G>T - IntronicSNV - 1/20 1
4-55549730-A-G c.68-11948A>G - IntronicSNV - 1/20 1
4-55550679-A-G c.68-10999A>G - IntronicSNV - 1/20 1
4-55550693-A-C c.68-10985A>C - IntronicSNV - 1/20 1
4-55551778-A-T c.68-9900A>T - IntronicSNV - 1/20 1
4-55552330-T-C c.68-9348T>C - IntronicSNV - 1/20 2
4-55552394-A-AC c.68-9284_68-9283insC - IntronicInsertion - 1/20 1
4-55552600-G-A c.68-9078G>A - IntronicSNV - 1/20 1
4-55552600-G-C c.68-9078G>C - IntronicSNV - 1/20 1
4-55552836-G-C c.68-8842G>C - IntronicSNV - 1/20 1
4-55553046-A-G c.68-8632A>G - IntronicSNV - 1/20 1
4-55553370-G-A c.68-8308G>A - IntronicSNV - 1/20 1
4-55553370-G-C c.68-8308G>C - IntronicSNV - 1/20 1
4-55553662-G-A c.68-8016G>A - IntronicSNV - 1/20 1
4-55553801-T-C c.68-7877T>C - IntronicSNV - 1/20 1
4-55553878-G-A c.68-7800G>A - IntronicSNV - 1/20 1
4-55554023-G-A c.68-7655G>A - IntronicSNV - 1/20 1
4-55554155-G-A c.68-7523G>A - IntronicSNV - 1/20 1
4-55554255-C-T c.68-7423C>T - IntronicSNV - 1/20 1
4-55554331-T-C c.68-7347T>C - IntronicSNV - 1/20 2
4-55554359-G-A c.68-7319G>A - IntronicSNV - 1/20 1
4-55554833-G-A c.68-6845G>A - IntronicSNV - 1/20 1
4-55555878-A-G c.68-5800A>G - IntronicSNV - 1/20 1
4-55556040-A-C c.68-5638A>C - IntronicSNV - 1/20 1
4-55556040-A-G c.68-5638A>G - IntronicSNV - 1/20 1
4-55556226-G-A c.68-5452G>A - IntronicSNV - 1/20 1
4-55556226-G-C c.68-5452G>C - IntronicSNV - 1/20 1
4-55556226-G-T c.68-5452G>T - IntronicSNV - 1/20 1
4-55556235-G-C c.68-5443G>C - IntronicSNV - 1/20 1
4-55556235-G-T c.68-5443G>T - IntronicSNV - 1/20 1
4-55556569-C-G c.68-5109C>G - IntronicSNV - 1/20 1
4-55556569-C-T c.68-5109C>T - IntronicSNV - 1/20 1
4-55556974-A-T c.68-4704A>T - IntronicSNV - 1/20 1
4-55557638-G-A c.68-4040G>A - IntronicSNV - 1/20 1
4-55557644-C-T c.68-4034C>T - IntronicSNV - 1/20 1
4-55557815-G-A c.68-3863G>A - IntronicSNV - 1/20 1
4-55557815-G-C c.68-3863G>C - IntronicSNV - 1/20 1
4-55557984-A-G c.68-3694A>G - IntronicSNV - 1/20 1
4-55558186-G-T c.68-3492G>T - IntronicSNV - 1/20 1
4-55558226-G-C c.68-3452G>C - IntronicSNV - 1/20 1
4-55558226-G-T c.68-3452G>T - IntronicSNV - 1/20 1
4-55558904-C-G c.68-2774C>G - IntronicSNV - 1/20 1
4-55558911-C-T c.68-2767C>T - IntronicSNV - 1/20 1
4-55558934-C-A c.68-2744C>A - IntronicSNV - 1/20 1
4-55558934-C-T c.68-2744C>T - IntronicSNV - 1/20 1
4-55559314-T-C c.68-2364T>C - IntronicSNV - 1/20 1
4-55559563-G-A c.68-2115G>A - IntronicSNV - 1/20 1
4-55559563-G-C c.68-2115G>C - IntronicSNV - 1/20 1
4-55559848-C-T c.68-1830C>T - IntronicSNV - 1/20 1
4-55559853-C-CAT c.68-1822_68-1821dup - IntronicInsertion - 1/20 1
4-55560556-C-T c.68-1122C>T - IntronicSNV - 1/20 1
4-55561067-T-C c.68-611T>C - IntronicSNV - 1/20 1
4-55561197-C-T c.68-481C>T - IntronicSNV - 1/20 1
4-55561548-T-C c.68-130T>C - IntronicSNV - 1/20 1
4-55561631-G-A c.68-47G>A - IntronicSNV - 1/20 1
4-55561631-G-T c.68-47G>T - IntronicSNV - 1/20 1
4-55561633-C-A c.68-45C>A - IntronicSNV - 1/20 1
4-55561635-A-G c.68-43A>G - IntronicSNV - 1/20 1
4-55561678-G-A c.68G>A p.G23D Missense 2/21 - 1
4-55561678-G-C c.68G>C p.G23A Missense 2/21 - 1
4-55561678-G-T c.68G>T p.G23V Missense 2/21 - 1
4-55561680-TC-AA c.70_71delinsAA p.S24N Missense 2/21 - 1
4-55561680-TC-CT c.70_71delinsCT p.S24L Missense 2/21 - 1
4-55561680-T-G c.70T>G p.S24A Missense 2/21 - 5
4-55561681-C-G c.71C>G p.S24C Missense 2/21 - 4
4-55561681-C-T c.71C>T p.S24F Missense 2/21 - 3
4-55561683-T-C c.73T>C p.S25P Missense 2/21 - 3
4-55561683-TCT-GAG c.73_75delinsGAG p.S25E Missense 2/21 - 1
4-55561683-T-G c.73T>G p.S25A Missense 2/21 - 1
4-55561684-C-A c.74C>A p.S25Y Missense 2/21 - 1
4-55561684-C-T c.74C>T p.S25F Missense 2/21 - 2
4-55561685-T-A c.75T>A p.S25= Synonymous 2/21 - 1
4-55561685-T-C c.75T>C p.S25= Synonymous 2/21 - 1
4-55561685-T-G c.75T>G p.S25= Synonymous 2/21 - 1
4-55561686-C-G c.76C>G p.Q26E Missense 2/21 - 2
4-55561686-C-T c.76C>T p.Q26* Nonsense 2/21 - 3
4-55561687-A-C c.77A>C p.Q26P Missense 2/21 - 1
4-55561689-CCA-AAC c.79_81delinsAAC p.P27N Missense 2/21 - 1
4-55561689-CCA-TGT c.79_81delinsTGT p.P27C Missense 2/21 - 1
4-55561689-C-T c.79C>T p.P27S Missense 2/21 - 1
4-55561690-CA-AT c.80_81delinsAT p.P27H Missense 2/21 - 1
4-55561690-C-G c.80C>G p.P27R Missense 2/21 - 1
4-55561690-C-T c.80C>T p.P27L Missense 2/21 - 3
4-55561691-A-G c.81A>G p.P27= Synonymous 2/21 - 1
4-55561692-TC-GA c.82_83inv p.S28D Missense 2/21 - 2
4-55561692-TCT-GAG c.82_84delinsGAG p.S28E Missense 2/21 - 1
4-55561692-T-G c.82T>G p.S28A Missense 2/21 - 4
4-55561693-C-A c.83C>A p.S28Y Missense 2/21 - 2
4-55561693-C-G c.83C>G p.S28C Missense 2/21 - 5
4-55561693-C-T c.83C>T p.S28F Missense 2/21 - 1
4-55561693-C-CT c.84dup p.V29Cfs*27 Frameshift 2/21 - 1
4-55561695-G-C c.85G>C p.V29L Missense 2/21 - 1
4-55561698-AG-CT c.88_89inv p.S30L Missense 2/21 - 1
4-55561699-G-A c.89G>A p.S30N Missense 2/21 - 1
4-55561699-G-T c.89G>T p.S30I Missense 2/21 - 2
4-55561701-C-A c.91C>A p.P31T Missense 2/21 - 2
4-55561701-C-T c.91C>T p.P31S Missense 2/21 - 3
4-55561702-C-A c.92C>A p.P31Q Missense 2/21 - 1
4-55561702-C-G c.92C>G p.P31R Missense 2/21 - 1
4-55561702-C-T c.92C>T p.P31L Missense 2/21 - 8
4-55561703-A-C c.93A>C p.P31= Synonymous 2/21 - 1
4-55561703-A-G c.93A>G p.P31= Synonymous 2/21 - 1
4-55561703-A-T c.93A>T p.P31= Synonymous 2/21 - 1
4-55561704-G-A c.94G>A p.G32R Missense 2/21 - 1
4-55561705-G-A c.95G>A p.G32E Missense 2/21 - 2
4-55561705-G-C c.95G>C p.G32A Missense 2/21 - 1
4-55561705-G-T c.95G>T p.G32V Missense 2/21 - 2
4-55561706-G-A c.96G>A p.G32= Synonymous 2/21 - 3
4-55561706-G-C c.96G>C p.G32= Synonymous 2/21 - 2
4-55561706-G-T c.96G>T p.G32= Synonymous 2/21 - 2
4-55561703-AG-A c.97del p.E33Nfs*14 Frameshift 2/21 - 1
4-55561707-GAA-TTT c.97_99delinsTTT p.E33F Missense 2/21 - 2
4-55561709-A-C c.99A>C p.E33D Missense 2/21 - 2
4-55561709-A-T c.99A>T p.E33D Missense 2/21 - 2
4-55561710-C-A c.100C>A p.P34T Missense 2/21 - 1
4-55561710-C-T c.100C>T p.P34S Missense 2/21 - 1
4-55561709-AC-A c.101del p.P34Rfs*13 Frameshift 2/21 - 1
4-55561711-C-A c.101C>A p.P34Q Missense 2/21 - 1
4-55561711-C-T c.101C>T p.P34L Missense 2/21 - 9
4-55561709-ACCGTCT-A c.102_107del p.S35_P36del InFrameDeletion 2/21 - 1
4-55561712-G-A c.102G>A p.P34= Synonymous 2/21 - 1
4-55561712-G-T c.102G>T p.P34= Synonymous 2/21 - 1
4-55561713-T-C c.103T>C p.S35P Missense 2/21 - 2
4-55561713-TC-GA c.103_104inv p.S35D Missense 2/21 - 1
4-55561714-C-T c.104C>T p.S35F Missense 2/21 - 2
4-55561716-C-A c.106C>A p.P36T Missense 2/21 - 14
4-55561716-C-G c.106C>G p.P36A Missense 2/21 - 2
4-55561716-C-T c.106C>T p.P36S Missense 2/21 - 3
4-55561717-C-A c.107C>A p.P36Q Missense 2/21 - 1
4-55561717-C-T c.107C>T p.P36L Missense 2/21 - 3
4-55561718-A-G c.108A>G p.P36= Synonymous 2/21 - 1
4-55561719-CCA-TGT c.109_111delinsTGT p.P37C Missense 2/21 - 1
4-55561719-C-G c.109C>G p.P37A Missense 2/21 - 6
4-55561719-C-T c.109C>T p.P37S Missense 2/21 - 3
4-55561720-C-G c.110C>G p.P37R Missense 2/21 - 2
4-55561720-C-T c.110C>T p.P37L Missense 2/21 - 1
4-55561722-T-C c.112T>C p.S38P Missense 2/21 - 1
4-55561723-C-A c.113C>A p.S38Y Missense 2/21 - 1
4-55561723-C-T c.113C>T p.S38F Missense 2/21 - 3
4-55561725-A-G c.115A>G p.I39V Missense 2/21 - 3
4-55561727-C-G c.117C>G p.I39M Missense 2/21 - 13
4-55561727-C-T c.117C>T p.I39= Synonymous 2/21 - 1
4-55561730-T-A c.120T>A p.H40Q Missense 2/21 - 3
4-55561730-T-G c.120T>G p.H40Q Missense 2/21 - 4
4-55561731-C-A c.121C>A p.P41T Missense 2/21 - 3
4-55561731-C-T c.121C>T p.P41S Missense 2/21 - 5
4-55561730-TC-T c.122del p.P41Qfs*6 Frameshift 2/21 - 2
4-55561732-C-A c.122C>A p.P41Q Missense 2/21 - 3
4-55561732-CCA-C c.122_123del p.P41Rfs*14 Frameshift 2/21 - 2
4-55561732-C-T c.122C>T p.P41L Missense 2/21 - 2
4-55561734-G-A c.124G>A p.G42R Missense 2/21 - 2
4-55561734-G-C c.124G>C p.G42R Missense 2/21 - 2
4-55561735-G-A c.125G>A p.G42E Missense 2/21 - 1
4-55561735-G-T c.125G>T p.G42V Missense 2/21 - 1
4-55561736-A-AAG c.127_128insGA p.K43Rfs*5 Frameshift 2/21 - 1
4-55561737-A-G c.127A>G p.K43E Missense 2/21 - 1
4-55561740-T-C c.130T>C p.S44P Missense 2/21 - 5
4-55561741-C-A c.131C>A p.S44* Nonsense 2/21 - 1
4-55561741-C-G c.131C>G p.S44* Nonsense 2/21 - 2
4-55561741-C-T c.131C>T p.S44L Missense 2/21 - 2
4-55561742-A-C c.132A>C p.S44= Synonymous 2/21 - 1
4-55561742-A-G c.132A>G p.S44= Synonymous 2/21 - 2
4-55561742-A-T c.132A>T p.S44= Synonymous 2/21 - 3
4-55561743-G-A c.133G>A p.D45N Missense 2/21 - 1
4-55561743-GAC-TAA c.133_135delinsTAA p.D45* Nonsense 2/21 - 1
4-55561743-GACTT-G c.135_138del p.D45Efs*2 Frameshift 2/21 - 1
4-55561745-C-G c.135C>G p.D45E Missense 2/21 - 1
4-55561746-T-G c.136T>G p.L46V Missense 2/21 - 2
4-55561745-C-CT c.137dup p.L46Ffs*10 Frameshift 2/21 - 1
4-55561749-A-G c.139A>G p.I47V Missense 2/21 - 1
4-55561750-T-G c.140T>G p.I47R Missense 2/21 - 1
4-55561751-TAGTCCG-T c.141_146del p.R49_V50del InFrameDeletion 2/21 - 1
4-55561752-G-A c.142G>A p.V48I Missense 2/21 - 2
4-55561752-G-C c.142G>C p.V48L Missense 2/21 - 1
4-55561753-T-A c.143T>A p.V48D Missense 2/21 - 1
4-55561753-T-C c.143T>C p.V48A Missense 2/21 - 1
4-55561753-T-G c.143T>G p.V48G Missense 2/21 - 1
4-55561754-C-A c.144C>A p.V48= Synonymous 2/21 - 1
4-55561754-C-G c.144C>G p.V48= Synonymous 2/21 - 1
4-55561754-C-T c.144C>T p.V48= Synonymous 2/21 - 5
4-55561755-C-A c.145C>A p.R49S Missense 2/21 - 1
4-55561755-CG-GC c.145_146delinsGC p.R49A Missense 2/21 - 1
4-55561755-C-T c.145C>T p.R49C Missense 2/21 - 16
4-55561756-G-A c.146G>A p.R49H Missense 2/21 - 20
4-55561756-G-T c.146G>T p.R49L Missense 2/21 - 1
4-55561757-C-A c.147C>A p.R49= Synonymous 2/21 - 3
4-55561757-C-G c.147C>G p.R49= Synonymous 2/21 - 1
4-55561757-C-T c.147C>T p.R49= Synonymous 2/21 - 4
4-55561758-G-A c.148G>A p.V50M Missense 2/21 - 25
4-55561758-G-C c.148G>C p.V50L Missense 2/21 - 6
4-55561758-G-T c.148G>T p.V50L Missense 2/21 - 10
4-55561758-GTG-ATC c.148_150delinsATC p.V50I Missense 2/21 - 1
4-55561759-T-C c.149T>C p.V50A Missense 2/21 - 1
4-55561760-G-GTT c.150_151insTT p.G51Lfs*54 Frameshift 2/21 - 1
4-55561761-G-T c.151G>T p.G51C Missense 2/21 - 3
4-55561762-G-A c.152G>A p.G51D Missense 2/21 - 1
4-55561762-GC-AG c.152_153delinsAG p.G51E Missense 2/21 - 1
4-55561763-C-A c.153C>A p.G51= Synonymous 2/21 - 1
4-55561763-C-G c.153C>G p.G51= Synonymous 2/21 - 2
4-55561763-C-T c.153C>T p.G51= Synonymous 2/21 - 2
4-55561764-G-A c.154G>A p.D52N Missense 2/21 - 33
4-55561764-GAC-ATG c.154_156delinsATG p.D52M Missense 2/21 - 1
4-55561764-G-T c.154G>T p.D52Y Missense 2/21 - 2
4-55561765-A-G c.155A>G p.D52G Missense 2/21 - 3
4-55561762-GCGA-G c.156_158del p.D52del InFrameDeletion 2/21 - 1
4-55561766-C-T c.156C>T p.D52= Synonymous 2/21 - 3
4-55561767-G-A c.157G>A p.E53K Missense 2/21 - 12
4-55561767-G-C c.157G>C p.E53Q Missense 2/21 - 3
4-55561767-G-T c.157G>T p.E53* Nonsense 2/21 - 1
4-55561768-A-C c.158A>C p.E53A Missense 2/21 - 2
4-55561768-A-G c.158A>G p.E53G Missense 2/21 - 6
4-55561769-G-C c.159G>C p.E53D Missense 2/21 - 3
4-55561769-G-T c.159G>T p.E53D Missense 2/21 - 2
4-55561770-A-G c.160A>G p.I54V Missense 2/21 - 1
4-55561773-AGG-CAT c.163_165delinsCAT p.R55H Missense 2/21 - 1
4-55561773-A-T c.163A>T p.R55W Missense 2/21 - 1
4-55561774-G-A c.164G>A p.R55K Missense 2/21 - 3
4-55561774-G-T c.164G>T p.R55M Missense 2/21 - 1
4-55561777-T-A c.167T>A p.L56Q Missense 2/21 - 1
4-55561777-T-C c.167T>C p.L56P Missense 2/21 - 1
4-55561776-C-T c.166C>T p.L56= Synonymous 2/21 - 1
4-55561778-G-A c.168G>A p.L56= Synonymous 2/21 - 1
4-55561778-G-C c.168G>C p.L56= Synonymous 2/21 - 1
4-55561778-G-GCAA c.168_169insCAA p.L56_L57insQ InFrameInsertion 2/21 - 1
4-55561778-G-T c.168G>T p.L56= Synonymous 2/21 - 1
4-55561779-T-C c.169T>C p.L57= Synonymous 2/21 - 1
4-55561779-TT-CA c.169_170delinsCA p.L57Q Missense 2/21 - 1
4-55561780-T-A c.170T>A p.L57* Nonsense 2/21 - 2
4-55561780-TA-GG c.170_171delinsGG p.L57W Missense 2/21 - 1
4-55561781-A-C c.171A>C p.L57F Missense 2/21 - 1
4-55561781-A-T c.171A>T p.L57F Missense 2/21 - 2
4-55561782-T-C c.172T>C p.C58R Missense 2/21 - 1
4-55561783-G-T c.173G>T p.C58F Missense 2/21 - 1
4-55561784-C-T c.174C>T p.C58= Synonymous 2/21 - 4
4-55561785-A-G c.175A>G p.T59A Missense 2/21 - 1
4-55561786-C-T c.176C>T p.T59I Missense 2/21 - 1
4-55561787-T-A c.177T>A p.T59= Synonymous 2/21 - 2
4-55561787-T-C c.177T>C p.T59= Synonymous 2/21 - 2
4-55561787-T-G c.177T>G p.T59= Synonymous 2/21 - 2
4-55561788-G-A c.178G>A p.D60N Missense 2/21 - 4
4-55561788-G-C c.178G>C p.D60H Missense 2/21 - 1
4-55561788-G-T c.178G>T p.D60Y Missense 2/21 - 1
4-55561790-T-A c.180T>A p.D60E Missense 2/21 - 1
4-55561790-T-G c.180T>G p.D60E Missense 2/21 - 2
4-55561791-C-A c.181C>A p.P61T Missense 2/21 - 7
4-55561791-C-G c.181C>G p.P61A Missense 2/21 - 1
4-55561791-C-T c.181C>T p.P61S Missense 2/21 - 1
4-55561792-C-CA c.182_183insA p.F63Lfs*7 Frameshift 2/21 - 1
4-55561792-C-T c.182C>T p.P61L Missense 2/21 - 2
4-55561793-G-A c.183G>A p.P61= Synonymous 2/21 - 4
4-55561793-G-C c.183G>C p.P61= Synonymous 2/21 - 1
4-55561793-G-T c.183G>T p.P61= Synonymous 2/21 - 2
4-55561794-G-A c.184G>A p.G62S Missense 2/21 - 3
4-55561794-G-C c.184G>C p.G62R Missense 2/21 - 1
4-55561794-G-T c.184G>T p.G62C Missense 2/21 - 3
4-55561795-G-C c.185G>C p.G62A Missense 2/21 - 1
4-55561795-GC-AG c.185_186delinsAG p.G62E Missense 2/21 - 1
4-55561795-G-T c.185G>T p.G62V Missense 2/21 - 2
4-55561796-C-A c.186C>A p.G62= Synonymous 2/21 - 1
4-55561796-C-G c.186C>G p.G62= Synonymous 2/21 - 1
4-55561796-C-T c.186C>T p.G62= Synonymous 2/21 - 1
4-55561796-GCT-G c.186_187del p.F63Cfs*6 Frameshift 2/21 - 1
4-55561797-T-C c.187T>C p.F63L Missense 2/21 - 2
4-55561797-TT-GC c.187_188delinsGC p.F63A Missense 2/21 - 1
4-55561799-T-A c.189T>A p.F63L Missense 2/21 - 1
4-55561799-T-G c.189T>G p.F63L Missense 2/21 - 1
4-55561798-T-A c.188T>A p.F63Y Missense 2/21 - 2
4-55561799-T-C c.189T>C p.F63= Synonymous 2/21 - 1
4-55561800-G-A c.190G>A p.V64I Missense 2/21 - 1
4-55561800-G-C c.190G>C p.V64L Missense 2/21 - 1
4-55561800-G-T c.190G>T p.V64F Missense 2/21 - 3
4-55561801-T-C c.191T>C p.V64A Missense 2/21 - 5
4-55561801-T-G c.191T>G p.V64G Missense 2/21 - 5
4-55561802-C-A c.192C>A p.V64= Synonymous 2/21 - 1
4-55561802-C-G c.192C>G p.V64= Synonymous 2/21 - 1
4-55561802-C-T c.192C>T p.V64= Synonymous 2/21 - 2
4-55561805-A-G c.195A>G p.K65= Synonymous 2/21 - 2
4-55561807-G-A c.197G>A p.W66* Nonsense 2/21 - 2
4-55561807-G-C c.197G>C p.W66S Missense 2/21 - 1
4-55561807-G-T c.197G>T p.W66L Missense 2/21 - 1
4-55561808-G-T c.198G>T p.W66C Missense 2/21 - 2
4-55561809-A-G c.199A>G p.T67A Missense 2/21 - 1
4-55561809-A-T c.199A>T p.T67S Missense 2/21 - 2
4-55561810-C-G c.200C>G p.T67S Missense 2/21 - 8
4-55561810-C-T c.200C>T p.T67I Missense 2/21 - 1
4-55561811-T-A c.201T>A p.T67= Synonymous 2/21 - 1
4-55561811-T-C c.201T>C p.T67= Synonymous 2/21 - 1
4-55561811-T-G c.201T>G p.T67= Synonymous 2/21 - 1
4-55561812-T-C c.202T>C p.F68L Missense 2/21 - 1
4-55561812-T-G c.202T>G p.F68V Missense 2/21 - 1
4-55561812-TT-GA c.202_203delinsGA p.F68D Missense 2/21 - 1
4-55561814-T-A c.204T>A p.F68L Missense 2/21 - 1
4-55561814-T-G c.204T>G p.F68L Missense 2/21 - 1
4-55561813-T-C c.203T>C p.F68S Missense 2/21 - 2
4-55561814-T-C c.204T>C p.F68= Synonymous 2/21 - 1
4-55561815-G-A c.205G>A p.E69K Missense 2/21 - 5
4-55561815-G-T c.205G>T p.E69* Nonsense 2/21 - 1
4-55561817-G-C c.207G>C p.E69D Missense 2/21 - 2
4-55561817-G-T c.207G>T p.E69D Missense 2/21 - 2
4-55561818-A-T c.208A>T p.I70F Missense 2/21 - 2
4-55561819-T-G c.209T>G p.I70S Missense 2/21 - 1
4-55561820-C-T c.210C>T p.I70= Synonymous 2/21 - 3
4-55561821-CTG-TTT c.211_213delinsTTT p.L71F Missense 2/21 - 1
4-55561823-G-C c.213G>C p.L71= Synonymous 2/21 - 1
4-55561824-G-A c.214G>A p.D72N Missense 2/21 - 1
4-55561824-G-T c.214G>T p.D72Y Missense 2/21 - 1
4-55561825-A-C c.215A>C p.D72A Missense 2/21 - 1
4-55561825-A-T c.215A>T p.D72V Missense 2/21 - 1
4-55561826-T-A c.216T>A p.D72E Missense 2/21 - 6
4-55561826-T-G c.216T>G p.D72E Missense 2/21 - 6
4-55561827-G-A c.217G>A p.E73K Missense 2/21 - 2
4-55561827-GA-AG c.217_218delinsAG p.E73R Missense 2/21 - 1
4-55561828-A-G c.218A>G p.E73G Missense 2/21 - 3
4-55561828-A-T c.218A>T p.E73V Missense 2/21 - 1
4-55561830-A-G c.220A>G p.T74A Missense 2/21 - 1
4-55561831-C-G c.221C>G p.T74R Missense 2/21 - 1
4-55561831-C-T c.221C>T p.T74M Missense 2/21 - 5
4-55561832-G-A c.222G>A p.T74= Synonymous 2/21 - 2
4-55561832-G-C c.222G>C p.T74= Synonymous 2/21 - 2
4-55561832-G-T c.222G>T p.T74= Synonymous 2/21 - 2
4-55561833-A-T c.223A>T p.N75Y Missense 2/21 - 1
4-55561832-G-GA c.224dup p.N75Kfs*2 Frameshift 2/21 - 1
4-55561836-G-A c.226G>A p.E76K Missense 2/21 - 7
4-55561836-G-C c.226G>C p.E76Q Missense 2/21 - 1
4-55561836-G-T c.226G>T p.E76* Nonsense 2/21 - 2
4-55561836-G-GA c.227dup p.N77Efs*2 Frameshift 2/21 - 1
4-55561837-A-T c.227A>T p.E76V Missense 2/21 - 1
4-55561838-G-C c.228G>C p.E76D Missense 2/21 - 1
4-55561838-G-T c.228G>T p.E76D Missense 2/21 - 1
4-55561839-A-C c.229A>C p.N77H Missense 2/21 - 1
4-55561840-A-G c.230A>G p.N77S Missense 2/21 - 2
4-55561840-A-T c.230A>T p.N77I Missense 2/21 - 1
4-55561842-TAA-T c.232_233del p.K78Afs*3 Frameshift 2/21 - 1
4-55561845-C-A c.235C>A p.Q79K Missense 2/21 - 4
4-55561845-C-T c.235C>T p.Q79* Nonsense 2/21 - 1
4-55561846-A-G c.236A>G p.Q79R Missense 2/21 - 1
4-55561846-A-T c.236A>T p.Q79L Missense 2/21 - 1
4-55561847-G-C c.237G>C p.Q79H Missense 2/21 - 1
4-55561847-G-T c.237G>T p.Q79H Missense 2/21 - 1
4-55561850-T-A c.240T>A p.N80K Missense 2/21 - 1
4-55561851-G-A c.241G>A p.E81K Missense 2/21 - 2
4-55561851-G-T c.241G>T p.E81* Nonsense 2/21 - 2
4-55561854-T-A c.244T>A p.W82R Missense 2/21 - 2
4-55561854-T-C c.244T>C p.W82R Missense 2/21 - 2
4-55561855-G-A c.245G>A p.W82* Nonsense 2/21 - 2
4-55561855-G-C c.245G>C p.W82S Missense 2/21 - 1
4-55561855-G-T c.245G>T p.W82L Missense 2/21 - 2
4-55561856-G-A c.246G>A p.W82* Nonsense 2/21 - 2
4-55561857-A-C c.247A>C p.I83L Missense 2/21 - 1
4-55561857-A-T c.247A>T p.I83F Missense 2/21 - 2
4-55561854-TGGATCAC-T c.248_254del p.I83Kfs*19 Frameshift 2/21 - 2
4-55561859-C-A c.249C>A p.I83= Synonymous 2/21 - 1
4-55561859-C-G c.249C>G p.I83M Missense 2/21 - 3
4-55561859-C-T c.249C>T p.I83= Synonymous 2/21 - 1
4-55561860-A-G c.250A>G p.T84A Missense 2/21 - 1
4-55561861-C-A c.251C>A p.T84K Missense 2/21 - 1
4-55561861-C-T c.251C>T p.T84M Missense 2/21 - 14
4-55561862-G-A c.252G>A p.T84= Synonymous 2/21 - 7
4-55561862-G-C c.252G>C p.T84= Synonymous 2/21 - 2
4-55561862-G-T c.252G>T p.T84= Synonymous 2/21 - 7
4-55561863-G-A c.253G>A p.E85K Missense 2/21 - 2
4-55561863-G-C c.253G>C p.E85Q Missense 2/21 - 1
4-55561863-G-T c.253G>T p.E85* Nonsense 2/21 - 2
4-55561863-GA-G c.257del p.K86Rfs*18 Frameshift 2/21 - 1
4-55561867-A-G c.257A>G p.K86R Missense 2/21 - 1
4-55561868-G-A c.258G>A p.K86= Synonymous 2/21 - 1
4-55561869-G-A c.259G>A p.A87T Missense 2/21 - 4
4-55561869-GCA-AAC c.259_261delinsAAC p.A87N Missense 2/21 - 1
4-55561869-GCA-TGT c.259_261delinsTGT p.A87C Missense 2/21 - 1
4-55561869-GCA-TTT c.259_261delinsTTT p.A87F Missense 2/21 - 2
4-55561869-GC-CA c.259_260delinsCA p.A87Q Missense 2/21 - 1
4-55561870-CA-AC c.260_261delinsAC p.A87D Missense 2/21 - 1
4-55561870-C-T c.260C>T p.A87V Missense 2/21 - 2
4-55561870-C-CA c.261dup p.E88Rfs*25 Frameshift 2/21 - 1
4-55561872-G-A c.262G>A p.E88K Missense 2/21 - 3
4-55561872-G-C c.262G>C p.E88Q Missense 2/21 - 1
4-55561872-G-T c.262G>T p.E88* Nonsense 2/21 - 1
4-55561873-A-G c.263A>G p.E88G Missense 2/21 - 1
4-55561875-G-A c.265G>A p.A89T Missense 2/21 - 3
4-55561875-G-C c.265G>C p.A89P Missense 2/21 - 1
4-55561875-GC-CA c.265_266delinsCA p.A89H Missense 2/21 - 1
4-55561875-GC-TG c.265_266delinsTG p.A89C Missense 2/21 - 2
4-55561875-GC-TT c.265_266delinsTT p.A89F Missense 2/21 - 1
4-55561875-G-T c.265G>T p.A89S Missense 2/21 - 2
4-55561876-C-A c.266C>A p.A89D Missense 2/21 - 2
4-55561876-C-T c.266C>T p.A89V Missense 2/21 - 1
4-55561877-C-A c.267C>A p.A89= Synonymous 2/21 - 1
4-55561877-C-G c.267C>G p.A89= Synonymous 2/21 - 1
4-55561877-C-T c.267C>T p.A89= Synonymous 2/21 - 1
4-55561878-AC-TG c.268_269delinsTG p.T90C Missense 2/21 - 1
4-55561878-A-G c.268A>G p.T90A Missense 2/21 - 1
4-55561879-CC-TG c.269_270delinsTG p.T90M Missense 2/21 - 3
4-55561879-C-T c.269C>T p.T90I Missense 2/21 - 1
4-55561880-C-A c.270C>A p.T90= Synonymous 2/21 - 1
4-55561880-C-T c.270C>T p.T90= Synonymous 2/21 - 2
4-55561881-A-T c.271A>T p.N91Y Missense 2/21 - 1
4-55561879-CCAACACCGG-C c.273_281del p.N91_G93del InFrameDeletion 2/21 - 1
4-55561883-C-G c.273C>G p.N91K Missense 2/21 - 1
4-55561884-A-C c.274A>C p.T92P Missense 2/21 - 1
4-55561884-A-G c.274A>G p.T92A Missense 2/21 - 1
4-55561886-C-A c.276C>A p.T92= Synonymous 2/21 - 1
4-55561886-C-G c.276C>G p.T92= Synonymous 2/21 - 1
4-55561886-C-T c.276C>T p.T92= Synonymous 2/21 - 2
4-55561887-G-A c.277G>A p.G93S Missense 2/21 - 1
4-55561887-GGC-TGG c.277_279delinsTGG p.G93W Missense 2/21 - 2
4-55561887-G-T c.277G>T p.G93C Missense 2/21 - 3
4-55561888-G-A c.278G>A p.G93D Missense 2/21 - 2
4-55561888-G-C c.278G>C p.G93A Missense 2/21 - 10
4-55561888-G-T c.278G>T p.G93V Missense 2/21 - 1
4-55561889-C-A c.279C>A p.G93= Synonymous 2/21 - 1
4-55561889-C-G c.279C>G p.G93= Synonymous 2/21 - 1
4-55561889-C-T c.279C>T p.G93= Synonymous 2/21 - 1
4-55561892-A-G c.282A>G p.K94= Synonymous 2/21 - 1
4-55561893-T-A c.283T>A p.Y95N Missense 2/21 - 1
4-55561893-T-C c.283T>C p.Y95H Missense 2/21 - 1
4-55561894-A-G c.284A>G p.Y95C Missense 2/21 - 1
4-55561895-C-A c.285C>A p.Y95* Nonsense 2/21 - 1
4-55561895-C-T c.285C>T p.Y95= Synonymous 2/21 - 1
4-55561896-A-C c.286A>C p.T96P Missense 2/21 - 1
4-55561896-A-G c.286A>G p.T96A Missense 2/21 - 1
4-55561896-A-T c.286A>T p.T96S Missense 2/21 - 1
4-55561897-C-A c.287C>A p.T96K Missense 2/21 - 1
4-55561897-C-T c.287C>T p.T96M Missense 2/21 - 4
4-55561898-G-A c.288G>A p.T96= Synonymous 2/21 - 5
4-55561898-G-T c.288G>T p.T96= Synonymous 2/21 - 6
4-55561899-T-A c.289T>A p.C97S Missense 2/21 - 1
4-55561899-T-C c.289T>C p.C97R Missense 2/21 - 1
4-55561899-TG-GC c.289_290delinsGC p.C97A Missense 2/21 - 1
4-55561900-G-A c.290G>A p.C97Y Missense 2/21 - 1
4-55561900-G-C c.290G>C p.C97S Missense 2/21 - 1
4-55561902-AC-CT c.292_293delinsCT p.T98L Missense 2/21 - 1
4-55561902-AC-GG c.292_293delinsGG p.T98G Missense 2/21 - 27
4-55561903-CC-TG c.293_294delinsTG p.T98M Missense 2/21 - 1
4-55561903-C-T c.293C>T p.T98I Missense 2/21 - 1
4-55561905-A-C c.295A>C p.N99H Missense 2/21 - 1
4-55561907-C-A c.297C>A p.N99K Missense 2/21 - 1
4-55561907-C-G c.297C>G p.N99K Missense 2/21 - 1
4-55561907-C-T c.297C>T p.N99= Synonymous 2/21 - 1
4-55561908-A-G c.298A>G p.K100E Missense 2/21 - 1
4-55561911-CA-AT c.301_302delinsAT p.H101I Missense 2/21 - 1
4-55561911-C-T c.301C>T p.H101Y Missense 2/21 - 3
4-55561912-A-G c.302A>G p.H101R Missense 2/21 - 1
4-55561913-C-T c.303C>T p.H101= Synonymous 2/21 - 4
4-55561914-G-A c.304G>A p.G102S Missense 2/21 - 8
4-55561914-G-T c.304G>T p.G102C Missense 2/21 - 1
4-55561915-G-A c.305G>A p.G102D Missense 2/21 - 1
4-55561915-G-C c.305G>C p.G102A Missense 2/21 - 1
4-55561917-T-A c.307T>A p.L103I Missense 2/21 - 1
4-55561917-T-G c.307T>G p.L103V Missense 2/21 - 1
4-55561917-TTA-ATG c.307_309delinsATG p.L103M Missense 2/21 - 1
4-55561918-T-A c.308T>A p.L103* Nonsense 2/21 - 1
4-55561920-A-C c.310A>C p.S104R Missense 2/21 - 1
4-55561920-AG-CT c.310_311inv p.S104L Missense 2/21 - 1
4-55561921-G-A c.311G>A p.S104N Missense 2/21 - 1
4-55561921-G-T c.311G>T p.S104I Missense 2/21 - 3
4-55561922-C-CA c.314dup p.N105Kfs*8 Frameshift 2/21 - 1
4-55561925-T-A c.315T>A p.N105K Missense 2/21 - 1
4-55561926-T-A c.316T>A p.S106T Missense 2/21 - 1
4-55561926-TC-CT c.316_317delinsCT p.S106L Missense 2/21 - 1
4-55561927-C-T c.317C>T p.S106F Missense 2/21 - 2
4-55561928-C-A c.318C>A p.S106= Synonymous 2/21 - 1
4-55561928-C-G c.318C>G p.S106= Synonymous 2/21 - 1
4-55561928-C-T c.318C>T p.S106= Synonymous 2/21 - 1
4-55561929-A-C c.319A>C p.I107L Missense 2/21 - 1
4-55561929-A-G c.319A>G p.I107V Missense 2/21 - 1
4-55561930-T-A c.320T>A p.I107N Missense 2/21 - 1
4-55561931-T-G c.321T>G p.I107M Missense 2/21 - 1
4-55561932-T-A c.322T>A p.Y108N Missense 2/21 - 1
4-55561932-TA-GACGAGCT c.322_323delinsGACGAGCT p.Y108delinsDEL MultiAAMissense 2/21 - 1
4-55561933-A-G c.323A>G p.Y108C Missense 2/21 - 1
4-55561934-T-A c.324T>A p.Y108* Nonsense 2/21 - 1
4-55561935-G-A c.325G>A p.V109M Missense 2/21 - 2
4-55561935-G-C c.325G>C p.V109L Missense 2/21 - 1
4-55561935-G-T c.325G>T p.V109L Missense 2/21 - 1
4-55561935-GTG-TGT c.325_327delinsTGT p.V109C Missense 2/21 - 1
4-55561936-T-A c.326T>A p.V109E Missense 2/21 - 3
4-55561936-T-G c.326T>G p.V109G Missense 2/21 - 1
4-55561938-T-A c.328T>A p.F110I Missense 2/21 - 1
4-55561938-T-C c.328T>C p.F110L Missense 2/21 - 1
4-55561940-T-A c.330T>A p.F110L Missense 2/21 - 1
4-55561940-T-G c.330T>G p.F110L Missense 2/21 - 1
4-55561939-T-A c.329T>A p.F110Y Missense 2/21 - 1
4-55561941-G-A c.331G>A p.V111I Missense 2/21 - 1
4-55561941-GT-TG c.331_332delinsTG p.V111C Missense 2/21 - 1
4-55561942-T-C c.332T>C p.V111A Missense 2/21 - 3
4-55561943-T-C c.333T>C p.V111= Synonymous 2/21 - 1
4-55561944-AGA-CAT c.334_336delinsCAT p.R112H Missense 2/21 - 1
4-55561945-G-T c.335G>T p.R112I Missense 2/21 - 2
4-55561947-G-A c.337G>A p.D113N Missense 2/21 - 1
4-55561947-G-C c.337G>C p.D113H Missense 2/21 - 2
4-55561947-G-GATCCTGCCAAGCTTTTCCTTGTTGACCGCTCCTT c.337_337+1insATCCTGCCAAGCTTTTCCTTGTTGACCGCTCCTT p.Y125Sfs*8 SpliceDonorInsertion - - 1
4-55562019-A-G c.337+72A>G - IntronicSNV - 2/20 1
4-55562022-G-A c.337+75G>A - IntronicSNV - 2/20 1
4-55562132-A-G c.337+185A>G - IntronicSNV - 2/20 1
4-55562325-C-T c.337+378C>T - IntronicSNV - 2/20 1
4-55562562-C-G c.337+615C>G - IntronicSNV - 2/20 1
4-55562669-A-G c.337+722A>G - IntronicSNV - 2/20 1
4-55562674-C-G c.337+727C>G - IntronicSNV - 2/20 1
4-55563462-A-G c.338-988A>G - IntronicSNV - 2/20 1
4-55563683-T-G c.338-767T>G - IntronicSNV - 2/20 1
4-55564049-C-T c.338-401C>T - IntronicSNV - 2/20 1
4-55564184-A-C c.338-266A>C - IntronicSNV - 2/20 2
4-55564184-A-G c.338-266A>G - IntronicSNV - 2/20 2
4-55564184-A-T c.338-266A>T - IntronicSNV - 2/20 2
4-55564452-C-G c.340C>G p.P114A Missense 3/21 - 1
4-55564452-C-T c.340C>T p.P114S Missense 3/21 - 1
4-55564453-C-A c.341C>A p.P114H Missense 3/21 - 1
4-55564453-C-G c.341C>G p.P114R Missense 3/21 - 1
4-55564453-C-T c.341C>T p.P114L Missense 3/21 - 3
4-55564455-G-A c.343G>A p.A115T Missense 3/21 - 2
4-55564455-G-T c.343G>T p.A115S Missense 3/21 - 1
4-55564455-GC-G c.345del p.K116Sfs*28 Frameshift 3/21 - 1
4-55564458-AA-TG c.346_347delinsTG p.K116W Missense 3/21 - 3
4-55564459-A-G c.347A>G p.K116R Missense 3/21 - 1
4-55564460-G-A c.348G>A p.K116= Synonymous 3/21 - 1
4-55564460-G-C c.348G>C p.K116N Missense 3/21 - 1
4-55564460-G-T c.348G>T p.K116N Missense 3/21 - 1
4-55564461-C-A c.349C>A p.L117I Missense 3/21 - 6
4-55564461-C-T c.349C>T p.L117F Missense 3/21 - 1
4-55564466-C-T c.354C>T p.F118= Synonymous 3/21 - 6
4-55564470-G-T c.358G>T p.V120F Missense 3/21 - 1
4-55564470-GTT-ATG c.358_360delinsATG p.V120M Missense 3/21 - 1
4-55564471-T-G c.359T>G p.V120G Missense 3/21 - 1
4-55564474-A-G c.362A>G p.D121G Missense 3/21 - 2
4-55564474-GACC-G c.362_364del p.D121_R122delinsG MultiAAMissense 3/21 - 1
4-55564475-C-A c.363C>A p.D121E Missense 3/21 - 2
4-55564476-C-A c.364C>A p.R122S Missense 3/21 - 4
4-55564476-CGC-AAG c.364_366delinsAAG p.R122K Missense 3/21 - 1
4-55564476-CGC-TGA c.364_366delinsTGA p.R122* Nonsense 3/21 - 1
4-55564476-C-T c.364C>T p.R122C Missense 3/21 - 4
4-55564477-G-A c.365G>A p.R122H Missense 3/21 - 8
4-55564477-G-T c.365G>T p.R122L Missense 3/21 - 1
4-55564479-T-A c.367T>A p.S123T Missense 3/21 - 1
4-55564480-C-G c.368C>G p.S123C Missense 3/21 - 1
4-55564480-C-T c.368C>T p.S123F Missense 3/21 - 8
4-55564484-G-C c.372G>C p.L124F Missense 3/21 - 2
4-55564484-G-T c.372G>T p.L124F Missense 3/21 - 2
4-55564485-T-C c.373T>C p.Y125H Missense 3/21 - 3
4-55564486-A-G c.374A>G p.Y125C Missense 3/21 - 1
4-55564488-G-A c.376G>A p.G126R Missense 3/21 - 1
4-55564488-GGG-AGC c.376_378delinsAGC p.G126S Missense 3/21 - 2
4-55564489-G-T c.377G>T p.G126V Missense 3/21 - 1
4-55564491-AAA-GAC c.379_381delinsGAC p.K127D Missense 3/21 - 1
4-55564490-GA-G c.381del p.E128Kfs*16 Frameshift 3/21 - 1
4-55564494-G-A c.382G>A p.E128K Missense 3/21 - 5
4-55564496-A-C c.384A>C p.E128D Missense 3/21 - 1
4-55564496-A-T c.384A>T p.E128D Missense 3/21 - 1
4-55564497-G-A c.385G>A p.D129N Missense 3/21 - 1
4-55564499-C-T c.387C>T p.D129= Synonymous 3/21 - 1
4-55564500-AAC-CAA c.388_390delinsCAA p.N130Q Missense 3/21 - 1
4-55564500-A-G c.388A>G p.N130D Missense 3/21 - 6
4-55564501-A-G c.389A>G p.N130S Missense 3/21 - 1
4-55564502-C-T c.390C>T p.N130= Synonymous 3/21 - 4
4-55564503-G-A c.391G>A p.D131N Missense 3/21 - 8
4-55564504-A-G c.392A>G p.D131G Missense 3/21 - 1
4-55564505-ACACGCT-A c.393_398del p.D131_L133delinsE MultiAAMissense 3/21 - 1
4-55564506-A-C c.394A>C p.T132P Missense 3/21 - 1
4-55564506-A-G c.394A>G p.T132A Missense 3/21 - 2
4-55564507-C-G c.395C>G p.T132R Missense 3/21 - 1
4-55564507-C-T c.395C>T p.T132M Missense 3/21 - 9
4-55564510-T-A c.398T>A p.L133Q Missense 3/21 - 1
4-55564510-T-C c.398T>C p.L133P Missense 3/21 - 1
4-55564512-G-A c.400G>A p.V134I Missense 3/21 - 4
4-55564512-GTC-ATG c.400_402delinsATG p.V134M Missense 3/21 - 1
4-55564515-C-A c.403C>A p.R135S Missense 3/21 - 1
4-55564515-C-G c.403C>G p.R135G Missense 3/21 - 3
4-55564515-C-T c.403C>T p.R135C Missense 3/21 - 4
4-55564516-G-A c.404G>A p.R135H Missense 3/21 - 7
4-55564516-G-C c.404G>C p.R135P Missense 3/21 - 1
4-55564517-C-A c.405C>A p.R135= Synonymous 3/21 - 1
4-55564517-C-G c.405C>G p.R135= Synonymous 3/21 - 1
4-55564517-C-T c.405C>T p.R135= Synonymous 3/21 - 3
4-55564518-T-C c.406T>C p.C136R Missense 3/21 - 1
4-55564517-CTG-C c.407_408del p.C136Sfs*29 Frameshift 3/21 - 1
4-55564519-G-A c.407G>A p.C136Y Missense 3/21 - 3
4-55564519-G-T c.407G>T p.C136F Missense 3/21 - 1
4-55564521-C-A c.409C>A p.P137T Missense 3/21 - 1
4-55564520-TC-T c.410del p.P137Lfs*7 Frameshift 3/21 - 1
4-55564522-C-A c.410C>A p.P137H Missense 3/21 - 1
4-55564524-C-A c.412C>A p.L138I Missense 3/21 - 1
4-55564524-CT-AG c.412_413inv p.L138S Missense 3/21 - 1
4-55564524-CTC-ATG c.412_414delinsATG p.L138M Missense 3/21 - 1
4-55564521-CCT-C c.413_414del p.L138Hfs*27 Frameshift 3/21 - 1
4-55564526-C-A c.414C>A p.L138= Synonymous 3/21 - 2
4-55564526-C-G c.414C>G p.L138= Synonymous 3/21 - 2
4-55564526-C-T c.414C>T p.L138= Synonymous 3/21 - 2
4-55564527-A-G c.415A>G p.T139A Missense 3/21 - 1
4-55564527-A-T c.415A>T p.T139S Missense 3/21 - 2
4-55564528-C-T c.416C>T p.T139I Missense 3/21 - 1
4-55564531-A-T c.419A>T p.D140V Missense 3/21 - 1
4-55564532-C-G c.420C>G p.D140E Missense 3/21 - 1
4-55564533-C-G c.421C>G p.P141A Missense 3/21 - 1
4-55564533-C-T c.421C>T p.P141S Missense 3/21 - 3
4-55564531-A-AC c.422dup p.E142Rfs*24 Frameshift 3/21 - 1
4-55564535-A-C c.423A>C p.P141= Synonymous 3/21 - 1
4-55564535-A-G c.423A>G p.P141= Synonymous 3/21 - 2
4-55564535-A-T c.423A>T p.P141= Synonymous 3/21 - 2
4-55564536-G-A c.424G>A p.E142K Missense 3/21 - 1
4-55564536-G-C c.424G>C p.E142Q Missense 3/21 - 1
4-55564536-G-T c.424G>T p.E142* Nonsense 3/21 - 1
4-55564537-A-C c.425A>C p.E142A Missense 3/21 - 1
4-55564538-A-C c.426A>C p.E142D Missense 3/21 - 2
4-55564538-A-T c.426A>T p.E142D Missense 3/21 - 2
4-55564539-G-A c.427G>A p.V143M Missense 3/21 - 3
4-55564542-A-G c.430A>G p.T144A Missense 3/21 - 1
4-55564548-T-G c.436T>G p.Y146D Missense 3/21 - 1
4-55564552-C-A c.440C>A p.S147Y Missense 3/21 - 1
4-55564553-C-T c.441C>T p.S147= Synonymous 3/21 - 3
4-55564554-C-T c.442C>T p.L148F Missense 3/21 - 1
4-55564554-CT-GA c.442_443delinsGA p.L148D Missense 3/21 - 1
4-55564556-C-T c.444C>T p.L148= Synonymous 3/21 - 1
4-55564557-AAG-TGT c.445_447delinsTGT p.K149C Missense 3/21 - 1
4-55564557-A-G c.445A>G p.K149E Missense 3/21 - 1
4-55564558-A-T c.446A>T p.K149M Missense 3/21 - 1
4-55564559-G-A c.447G>A p.K149= Synonymous 3/21 - 6
4-55564559-G-C c.447G>C p.K149N Missense 3/21 - 1
4-55564560-G-A c.448G>A p.G150R Missense 3/21 - 3
4-55564560-G-C c.448G>C p.G150R Missense 3/21 - 2
4-55564561-G-T c.449G>T p.G150V Missense 3/21 - 1
4-55564562-G-A c.450G>A p.G150= Synonymous 3/21 - 1
4-55564562-G-C c.450G>C p.G150= Synonymous 3/21 - 1
4-55564562-G-T c.450G>T p.G150= Synonymous 3/21 - 1
4-55564564-G-T c.452G>T p.C151F Missense 3/21 - 1
4-55564565-C-T c.453C>T p.C151= Synonymous 3/21 - 2
4-55564567-A-T c.455A>T p.Q152L Missense 3/21 - 1
4-55564569-G-A c.457G>A p.G153R Missense 3/21 - 4
4-55564569-G-C c.457G>C p.G153R Missense 3/21 - 2
4-55564570-G-A c.458G>A p.G153E Missense 3/21 - 2
4-55564574-G-C c.462G>C p.K154N Missense 3/21 - 1
4-55564574-G-T c.462G>T p.K154N Missense 3/21 - 1
4-55564575-C-A c.463C>A p.P155T Missense 3/21 - 2
4-55564575-C-T c.463C>T p.P155S Missense 3/21 - 2
4-55564576-C-A c.464C>A p.P155H Missense 3/21 - 6
4-55564576-C-T c.464C>T p.P155L Missense 3/21 - 4
4-55564578-C-A c.466C>A p.L156I Missense 3/21 - 1
4-55564578-C-G c.466C>G p.L156V Missense 3/21 - 2
4-55564578-C-T c.466C>T p.L156F Missense 3/21 - 2
4-55564579-T-A c.467T>A p.L156H Missense 3/21 - 1
4-55564580-T-A c.468T>A p.L156= Synonymous 3/21 - 1
4-55564580-T-C c.468T>C p.L156= Synonymous 3/21 - 1
4-55564580-T-G c.468T>G p.L156= Synonymous 3/21 - 1
4-55564581-C-T c.469C>T p.P157S Missense 3/21 - 1
4-55564582-C-T c.470C>T p.P157L Missense 3/21 - 3
4-55564585-A-C c.473A>C p.K158T Missense 3/21 - 1
4-55564585-A-G c.473A>G p.K158R Missense 3/21 - 1
4-55564586-G-C c.474G>C p.K158N Missense 3/21 - 1
4-55564586-G-T c.474G>T p.K158N Missense 3/21 - 3
4-55564587-G-A c.475G>A p.D159N Missense 3/21 - 2
4-55564587-G-C c.475G>C p.D159H Missense 3/21 - 1
4-55564588-A-C c.476A>C p.D159A Missense 3/21 - 1
4-55564589-C-A c.477C>A p.D159E Missense 3/21 - 1
4-55564590-T-A c.478T>A p.L160M Missense 3/21 - 1
4-55564590-T-G c.478T>G p.L160V Missense 3/21 - 14
4-55564590-TT-CC c.478_479delinsCC p.L160P Missense 3/21 - 1
4-55564591-T-G c.479T>G p.L160W Missense 3/21 - 1
4-55564592-G-C c.480G>C p.L160F Missense 3/21 - 3
4-55564594-G-T c.482G>T p.R161M Missense 3/21 - 4
4-55564595-G-A c.483G>A p.R161= Synonymous 3/21 - 1
4-55564599-A-G c.487A>G p.I163V Missense 3/21 - 4
4-55564602-C-A c.490C>A p.P164T Missense 3/21 - 1
4-55564602-C-T c.490C>T p.P164S Missense 3/21 - 2
4-55564605-G-A c.493G>A p.D165N Missense 3/21 - 2
4-55564605-G-T c.493G>T p.D165Y Missense 3/21 - 1
4-55564606-A-G c.494A>G p.D165G Missense 3/21 - 3
4-55564609-C-A c.497C>A p.P166H Missense 3/21 - 1
4-55564610-CA-C c.500del p.K167Rfs*5 Frameshift 3/21 - 1
4-55564612-A-G c.500A>G p.K167R Missense 3/21 - 1
4-55564612-A-T c.500A>T p.K167M Missense 3/21 - 1
4-55564614-G-T c.502G>T p.A168S Missense 3/21 - 1
4-55564615-C-A c.503C>A p.A168E Missense 3/21 - 2
4-55564615-C-G c.503C>G p.A168G Missense 3/21 - 1
4-55564615-C-T c.503C>T p.A168V Missense 3/21 - 3
4-55564616-G-A c.504G>A p.A168= Synonymous 3/21 - 4
4-55564616-G-C c.504G>C p.A168= Synonymous 3/21 - 2
4-55564616-G-T c.504G>T p.A168= Synonymous 3/21 - 3
4-55564617-G-A c.505G>A p.G169S Missense 3/21 - 1
4-55564617-G-T c.505G>T p.G169C Missense 3/21 - 2
4-55564618-G-A c.506G>A p.G169D Missense 3/21 - 2
4-55564618-G-C c.506G>C p.G169A Missense 3/21 - 1
4-55564619-C-A c.507C>A p.G169= Synonymous 3/21 - 1
4-55564619-C-G c.507C>G p.G169= Synonymous 3/21 - 1
4-55564619-C-T c.507C>T p.G169= Synonymous 3/21 - 1
4-55564622-C-G c.510C>G p.I170M Missense 3/21 - 1
4-55564622-C-T c.510C>T p.I170= Synonymous 3/21 - 2
4-55564624-T-C c.512T>C p.M171T Missense 3/21 - 1
4-55564631-A-C c.519A>C p.K173N Missense 3/21 - 1
4-55564631-A-T c.519A>T p.K173N Missense 3/21 - 1
4-55564632-AG-GC c.520_521delinsGC p.S174A Missense 3/21 - 1
4-55564633-G-A c.521G>A p.S174N Missense 3/21 - 3
4-55564633-G-C c.521G>C p.S174T Missense 3/21 - 1
4-55564636-T-A c.524T>A p.V175E Missense 3/21 - 1
4-55564637-G-C c.525G>C p.V175= Synonymous 3/21 - 1
4-55564636-TGAAACGCGCCTACCATCG-T c.526_543del p.K176_R181del InFrameDeletion 3/21 - 1
4-55564638-A-T c.526A>T p.K176* Nonsense 3/21 - 1
4-55564640-A-C c.528A>C p.K176N Missense 3/21 - 4
4-55564640-A-G c.528A>G p.K176= Synonymous 3/21 - 1
4-55564640-A-T c.528A>T p.K176N Missense 3/21 - 5
4-55564641-CGC-TGA c.529_531delinsTGA p.R177* Nonsense 3/21 - 1
4-55564641-CGC-TGG c.529_531delinsTGG p.R177W Missense 3/21 - 1
4-55564641-C-T c.529C>T p.R177C Missense 3/21 - 8
4-55564642-G-A c.530G>A p.R177H Missense 3/21 - 11
4-55564642-GC-AA c.530_531delinsAA p.R177Q Missense 3/21 - 2
4-55564642-G-T c.530G>T p.R177L Missense 3/21 - 6
4-55564643-C-A c.531C>A p.R177= Synonymous 3/21 - 3
4-55564643-C-G c.531C>G p.R177= Synonymous 3/21 - 2
4-55564643-C-T c.531C>T p.R177= Synonymous 3/21 - 2
4-55564644-G-A c.532G>A p.A178T Missense 3/21 - 7
4-55564645-C-T c.533C>T p.A178V Missense 3/21 - 5
4-55564646-C-A c.534C>A p.A178= Synonymous 3/21 - 3
4-55564646-C-G c.534C>G p.A178= Synonymous 3/21 - 3
4-55564646-C-T c.534C>T p.A178= Synonymous 3/21 - 3
4-55564647-T-C c.535T>C p.Y179H Missense 3/21 - 1
4-55564648-A-G c.536A>G p.Y179C Missense 3/21 - 2
4-55564650-C-A c.538C>A p.H180N Missense 3/21 - 1
4-55564653-CG-AT c.541_542delinsAT p.R181M Missense 3/21 - 1
4-55564653-CG-TA c.541_542delinsTA p.R181* Nonsense 3/21 - 1
4-55564653-C-T c.541C>T p.R181W Missense 3/21 - 4
4-55564653-TC-T c.541del p.R181Gfs*22 Frameshift 3/21 - 1
4-55564654-G-A c.542G>A p.R181Q Missense 3/21 - 4
4-55564656-C-A c.544C>A p.L182I Missense 3/21 - 1
4-55564656-C-G c.544C>G p.L182V Missense 3/21 - 1
4-55564656-C-T c.544C>T p.L182F Missense 3/21 - 3
4-55564658-C-G c.546C>G p.L182= Synonymous 3/21 - 2
4-55564658-C-T c.546C>T p.L182= Synonymous 3/21 - 1
4-55564659-T-A c.547T>A p.C183S Missense 3/21 - 4
4-55564659-TG-GC c.547_548delinsGC p.C183A Missense 3/21 - 1
4-55564660-G-C c.548G>C p.C183S Missense 3/21 - 6
4-55564661-T-A c.549T>A p.C183* Nonsense 3/21 - 3
4-55564662-C-T c.550C>T p.L184= Synonymous 3/21 - 4
4-55564663-T-A c.551T>A p.L184Q Missense 3/21 - 1
4-55564664-G-A c.552G>A p.L184= Synonymous 3/21 - 3
4-55564664-G-C c.552G>C p.L184= Synonymous 3/21 - 3
4-55564664-G-T c.552G>T p.L184= Synonymous 3/21 - 3
4-55564666-A-G c.554A>G p.H185R Missense 3/21 - 1
4-55564669-G-T c.557G>T p.C186F Missense 3/21 - 1
4-55564673-T-TGATAGA c.562_563insATAGAG p.S187_V188insDR InFrameInsertion 3/21 - 1
4-55564676-G-T c.564G>T p.V188= Synonymous 3/21 - 1
4-55564677-G-A c.565G>A p.D189N Missense 3/21 - 2
4-55564678-A-C c.566A>C p.D189A Missense 3/21 - 1
4-55564678-A-T c.566A>T p.D189V Missense 3/21 - 1
4-55564679-C-T c.567C>T p.D189= Synonymous 3/21 - 1
4-55564682-G-C c.570G>C p.Q190H Missense 3/21 - 1
4-55564682-G-GT c.570_571insT p.E191* Nonsense 3/21 - 1
4-55564682-G-T c.570G>T p.Q190H Missense 3/21 - 1
4-55564683-G-A c.571G>A p.E191K Missense 3/21 - 3
4-55564683-G-GA c.572dup p.K193Qfs*32 Frameshift 3/21 - 1
4-55564684-A-C c.572A>C p.E191A Missense 3/21 - 1
4-55564685-G-A c.573G>A p.E191= Synonymous 3/21 - 1
4-55564685-G-C c.573G>C p.E191D Missense 3/21 - 2
4-55564685-G-T c.573G>T p.E191D Missense 3/21 - 1
4-55564686-G-C c.574G>C p.G192R Missense 3/21 - 1
4-55564686-G-T c.574G>T p.G192C Missense 3/21 - 1
4-55564687-G-T c.575G>T p.G192V Missense 3/21 - 1
4-55564688-C-A c.576C>A p.G192= Synonymous 3/21 - 1
4-55564688-C-T c.576C>T p.G192= Synonymous 3/21 - 1
4-55564689-A-C c.577A>C p.K193Q Missense 3/21 - 1
4-55564687-GCAAGT-G c.578_582del p.K193Sfs*30 Frameshift 3/21 - 1
4-55564691-AG-A c.579del p.K193Nfs*10 Frameshift 3/21 - 1
4-55564693-C-A c.581C>A p.S194* Nonsense 3/21 - 2
4-55564693-C-T c.581C>T p.S194L Missense 3/21 - 1
4-55564695-G-A c.583G>A p.V195M Missense 3/21 - 1
4-55564696-T-C c.584T>C p.V195A Missense 3/21 - 4
4-55564697-G-A c.585G>A p.V195= Synonymous 3/21 - 2
4-55564697-G-C c.585G>C p.V195= Synonymous 3/21 - 2
4-55564697-G-T c.585G>T p.V195= Synonymous 3/21 - 2
4-55564698-C-A c.586C>A p.L196M Missense 3/21 - 1
4-55564699-T-G c.587T>G p.L196R Missense 3/21 - 1
4-55564700-G-A c.588G>A p.L196= Synonymous 3/21 - 2
4-55564702-C-A c.590C>A p.S197* Nonsense 3/21 - 4
4-55564702-C-T c.590C>T p.S197L Missense 3/21 - 11
4-55564703-G-A c.591G>A p.S197= Synonymous 3/21 - 3
4-55564703-G-C c.591G>C p.S197= Synonymous 3/21 - 2
4-55564703-G-GT c.591_592insT p.E198* Nonsense 3/21 - 1
4-55564703-G-T c.591G>T p.S197= Synonymous 3/21 - 2
4-55564704-G-A c.592G>A p.E198K Missense 3/21 - 3
4-55564704-G-T c.592G>T p.E198* Nonsense 3/21 - 3
4-55564705-A-G c.593A>G p.E198G Missense 3/21 - 1
4-55564707-A-G c.595A>G p.K199E Missense 3/21 - 1
4-55564704-GA-G c.597del p.K199Nfs*4 Frameshift 3/21 - 1
4-55564711-T-A c.599T>A p.F200Y Missense 3/21 - 1
4-55564711-TC-AA c.599_600delinsAA p.F200* Nonsense 3/21 - 6
4-55564712-C-A c.600C>A p.F200L Missense 3/21 - 1
4-55564713-A-G c.601A>G p.I201V Missense 3/21 - 1
4-55564714-T-A c.602T>A p.I201N Missense 3/21 - 1
4-55564715-C-T c.603C>T p.I201= Synonymous 3/21 - 1
4-55564716-C-A c.604C>A p.L202M Missense 3/21 - 1
4-55564716-C-G c.604C>G p.L202V Missense 3/21 - 1
4-55564717-T-C c.605T>C p.L202P Missense 3/21 - 5
4-55564718-G-A c.606G>A p.L202= Synonymous 3/21 - 1
4-55564718-G-C c.606G>C p.L202= Synonymous 3/21 - 1
4-55564718-G-T c.606G>T p.L202= Synonymous 3/21 - 2
4-55564721-A-T c.609A>T p.K203N Missense 3/21 - 3
4-55564722-AG-A c.610del p.V204* Frameshift 3/21 - 1
4-55564722-G-C c.610G>C p.V204L Missense 3/21 - 1
4-55564722-G-T c.610G>T p.V204L Missense 3/21 - 1
4-55564723-T-C c.611T>C p.V204A Missense 3/21 - 5
4-55564725-A-G c.613A>G p.R205G Missense 3/21 - 1
4-55564725-A-T c.613A>T p.R205W Missense 3/21 - 2
4-55564726-G-C c.614G>C p.R205T Missense 3/21 - 1
4-55564727-G-C c.615G>C p.R205S Missense 3/21 - 1
4-55564727-G-T c.615G>T p.R205S Missense 3/21 - 1
4-55564728-C-T c.616C>T p.P206S Missense 3/21 - 4
4-55564730-A-AC c.618_619insC p.A207Rfs*18 SpliceDonorInsertion 3/21 - 1
4-55564731-G-T c.619G>T p.A207S Missense 3/21 - 2
4-55564732-G-C c.619+1G>C - IntronicSNV - 3/20 1
4-55564765-G-A c.619+34G>A - IntronicSNV - 3/20 1
4-55564817-T-C c.619+86T>C - IntronicSNV - 3/20 1
4-55564818-A-T c.619+87A>T - IntronicSNV - 3/20 1
4-55564975-G-C c.619+244G>C - IntronicSNV - 3/20 1
4-55565136-T-G c.619+405T>G - IntronicSNV - 3/20 1
4-55565268-G-A c.620-528G>A - IntronicSNV - 3/20 1
4-55565408-A-G c.620-388A>G - IntronicSNV - 3/20 1
4-55565445-A-G c.620-351A>G - IntronicSNV - 3/20 1
4-55565730-A-G c.620-66A>G - IntronicSNV - 3/20 1
4-55565796-C-T c.620C>T p.A207V Missense 4/21 - 4
4-55565800-C-G c.624C>G p.F208L Missense 4/21 - 1
4-55565802-A-T c.626A>T p.K209I Missense 4/21 - 4
4-55565803-A-G c.627A>G p.K209= Synonymous 4/21 - 1
4-55565804-G-A c.628G>A p.A210T Missense 4/21 - 1
4-55565805-C-A c.629C>A p.A210D Missense 4/21 - 1
4-55565805-C-T c.629C>T p.A210V Missense 4/21 - 4
4-55565805-CT-AG c.629_630inv p.A210E Missense 4/21 - 1
4-55565806-T-A c.630T>A p.A210= Synonymous 4/21 - 1
4-55565806-T-C c.630T>C p.A210= Synonymous 4/21 - 1
4-55565806-T-G c.630T>G p.A210= Synonymous 4/21 - 1
4-55565807-G-A c.631G>A p.V211M Missense 4/21 - 1
4-55565807-G-T c.631G>T p.V211L Missense 4/21 - 1
4-55565807-GTG-ATC c.631_633delinsATC p.V211I Missense 4/21 - 1
4-55565810-C-T c.634C>T p.P212S Missense 4/21 - 4
4-55565811-C-A c.635C>A p.P212H Missense 4/21 - 1
4-55565811-C-T c.635C>T p.P212L Missense 4/21 - 2
4-55565813-G-T c.637G>T p.V213F Missense 4/21 - 1
4-55565814-T-G c.638T>G p.V213G Missense 4/21 - 1
4-55565814-TT-AG c.638_639delinsAG p.V213E Missense 4/21 - 1
4-55565816-G-A c.640G>A p.V214M Missense 4/21 - 1
4-55565816-G-C c.640G>C p.V214L Missense 4/21 - 1
4-55565816-G-T c.640G>T p.V214L Missense 4/21 - 1
4-55565818-G-A c.642G>A p.V214= Synonymous 4/21 - 1
4-55565819-T-C c.643T>C p.S215P Missense 4/21 - 2
4-55565819-TC-AA c.643_644delinsAA p.S215N Missense 4/21 - 1
4-55565820-C-G c.644C>G p.S215C Missense 4/21 - 1
4-55565820-C-T c.644C>T p.S215F Missense 4/21 - 2
4-55565814-TTGTGTC-T c.645_650del p.V216_S217del InFrameDeletion 4/21 - 1
4-55565822-G-A c.646G>A p.V216M Missense 4/21 - 2
4-55565822-G-C c.646G>C p.V216L Missense 4/21 - 1
4-55565822-G-T c.646G>T p.V216L Missense 4/21 - 1
4-55565825-TC-CT c.649_650delinsCT p.S217L Missense 4/21 - 1
4-55565825-T-G c.649T>G p.S217A Missense 4/21 - 1
4-55565826-C-T c.650C>T p.S217F Missense 4/21 - 1
4-55565827-C-T c.651C>T p.S217= Synonymous 4/21 - 1
4-55565828-A-T c.652A>T p.K218* Nonsense 4/21 - 1
4-55565831-G-A c.655G>A p.A219T Missense 4/21 - 1
4-55565831-G-T c.655G>T p.A219S Missense 4/21 - 1
4-55565832-C-A c.656C>A p.A219E Missense 4/21 - 1
4-55565832-C-G c.656C>G p.A219G Missense 4/21 - 3
4-55565832-C-T c.656C>T p.A219V Missense 4/21 - 14
4-55565834-AG-CT c.658_659inv p.S220L Missense 4/21 - 1
4-55565836-C-A c.660C>A p.S220R Missense 4/21 - 1
4-55565837-T-A c.661T>A p.Y221N Missense 4/21 - 1
4-55565838-A-G c.662A>G p.Y221C Missense 4/21 - 1
4-55565839-T-C c.663T>C p.Y221= Synonymous 4/21 - 1
4-55565841-T-C c.665T>C p.L222P Missense 4/21 - 1
4-55565842-T-A c.666T>A p.L222= Synonymous 4/21 - 1
4-55565842-T-C c.666T>C p.L222= Synonymous 4/21 - 1
4-55565842-T-G c.666T>G p.L222= Synonymous 4/21 - 1
4-55565843-C-A c.667C>A p.L223I Missense 4/21 - 1
4-55565843-CT-GC c.667_668delinsGC p.L223A Missense 4/21 - 1
4-55565846-AGG-CAT c.670_672delinsCAT p.R224H Missense 4/21 - 2
4-55565846-AGG-TGT c.670_672delinsTGT p.R224C Missense 4/21 - 2
4-55565847-G-A c.671G>A p.R224K Missense 4/21 - 1
4-55565846-AG-A c.673del p.E225Kfs*7 Frameshift 4/21 - 1
4-55565849-G-A c.673G>A p.E225K Missense 4/21 - 1
4-55565849-G-T c.673G>T p.E225* Nonsense 4/21 - 1
4-55565852-G-A c.676G>A p.G226R Missense 4/21 - 2
4-55565852-G-C c.676G>C p.G226R Missense 4/21 - 2
4-55565852-G-T c.676G>T p.G226W Missense 4/21 - 2
4-55565853-G-C c.677G>C p.G226A Missense 4/21 - 2
4-55565853-GG-AC c.677_678delinsAC p.G226D Missense 4/21 - 2
4-55565854-G-A c.678G>A p.G226= Synonymous 4/21 - 1
4-55565855-G-A c.679G>A p.E227K Missense 4/21 - 1
4-55565855-G-C c.679G>C p.E227Q Missense 4/21 - 1
4-55565858-G-A c.682G>A p.E228K Missense 4/21 - 9
4-55565858-G-T c.682G>T p.E228* Nonsense 4/21 - 3
4-55565860-A-G c.684A>G p.E228= Synonymous 4/21 - 1
4-55565861-T-C c.685T>C p.F229L Missense 4/21 - 2
4-55565863-C-G c.687C>G p.F229L Missense 4/21 - 2
4-55565863-C-A c.687C>A p.F229L Missense 4/21 - 3
4-55565867-G-C c.691G>C p.V231L Missense 4/21 - 1
4-55565870-A-G c.694A>G p.T232A Missense 4/21 - 2
4-55565871-C-T c.695C>T p.T232M Missense 4/21 - 8
4-55565872-G-A c.696G>A p.T232= Synonymous 4/21 - 1
4-55565872-G-C c.696G>C p.T232= Synonymous 4/21 - 1
4-55565872-G-T c.696G>T p.T232= Synonymous 4/21 - 1
4-55565873-T-A c.697T>A p.C233S Missense 4/21 - 3
4-55565874-G-C c.698G>C p.C233S Missense 4/21 - 3
4-55565875-C-G c.699C>G p.C233W Missense 4/21 - 1
4-55565875-C-T c.699C>T p.C233= Synonymous 4/21 - 1
4-55565879-A-G c.703A>G p.I235V Missense 4/21 - 3
4-55565880-T-A c.704T>A p.I235K Missense 4/21 - 1
4-55565880-T-C c.704T>C p.I235T Missense 4/21 - 3
4-55565882-A-T c.706A>T p.K236* Nonsense 4/21 - 1
4-55565883-A-C c.707A>C p.K236T Missense 4/21 - 3
4-55565883-A-G c.707A>G p.K236R Missense 4/21 - 1
4-55565884-A-G c.708A>G p.K236= Synonymous 4/21 - 1
4-55565885-G-T c.709G>T p.D237Y Missense 4/21 - 1
4-55565886-A-G c.710A>G p.D237G Missense 4/21 - 1
4-55565887-T-A c.711T>A p.D237E Missense 4/21 - 1
4-55565888-G-A c.712G>A p.V238M Missense 4/21 - 1
4-55565888-G-C c.712G>C p.V238L Missense 4/21 - 1
4-55565888-G-T c.712G>T p.V238L Missense 4/21 - 1
4-55565890-G-A c.714G>A p.V238= Synonymous 4/21 - 1
4-55565891-T-C c.715T>C p.S239P Missense 4/21 - 1
4-55565891-TC-GA c.715_716inv p.S239D Missense 4/21 - 2
4-55565892-C-T c.716C>T p.S239F Missense 4/21 - 1
4-55565895-G-A c.719G>A p.S240N Missense 4/21 - 1
4-55565895-G-C c.719G>C p.S240T Missense 4/21 - 1
4-55565898-C-A c.722C>A p.S241Y Missense 4/21 - 1
4-55565898-C-G c.722C>G p.S241C Missense 4/21 - 1
4-55565898-C-T c.722C>T p.S241F Missense 4/21 - 3
4-55565899-CT-C c.723del p.V242Cfs*34 Frameshift 4/21 - 1
4-55565900-G-A c.724G>A p.V242M Missense 4/21 - 1
4-55565900-G-C c.724G>C p.V242L Missense 4/21 - 1
4-55565904-A-G c.728A>G p.Y243C Missense 4/21 - 1
4-55565905-C-T c.729C>T p.Y243= Synonymous 4/21 - 1
4-55565907-C-A c.731C>A p.S244* Nonsense 4/21 - 2
4-55565907-C-G c.731C>G p.S244* Nonsense 4/21 - 1
4-55565907-C-T c.731C>T p.S244L Missense 4/21 - 1
4-55565909-AC-GG c.733_734delinsGG p.T245G Missense 4/21 - 1
4-55565909-A-G c.733A>G p.T245A Missense 4/21 - 1
4-55565910-C-G c.734C>G p.T245R Missense 4/21 - 1
4-55565910-C-T c.734C>T p.T245M Missense 4/21 - 14
4-55565911-G-A c.735G>A p.T245= Synonymous 4/21 - 1
4-55565913-G-A c.737G>A p.W246* Nonsense 4/21 - 3
4-55565914-G-A c.738G>A p.W246* Nonsense 4/21 - 2
4-55565916-A-G c.740A>G p.K247R Missense 4/21 - 4
4-55565917-A-C c.741A>C p.K247N Missense 4/21 - 1
4-55565917-A-T c.741A>T p.K247N Missense 4/21 - 1
4-55565918-A-G c.742A>G p.R248G Missense 4/21 - 1
4-55565918-AGA-TGG c.742_744delinsTGG p.R248W Missense 4/21 - 6
4-55565918-AGA-TGT c.742_744delinsTGT p.R248C Missense 4/21 - 4
4-55565918-AG-CA c.742_743delinsCA p.R248Q Missense 4/21 - 7
4-55565918-AG-CT c.742_743inv p.R248L Missense 4/21 - 1
4-55565919-G-A c.743G>A p.R248K Missense 4/21 - 1
4-55565921-G-A c.745G>A p.E249K Missense 4/21 - 2
4-55565921-G-T c.745G>T p.E249* Nonsense 4/21 - 5
4-55565922-A-G c.746A>G p.E249G Missense 4/21 - 1
4-55565923-A-G c.747A>G p.E249= Synonymous 4/21 - 1
4-55565925-A-G c.749A>G p.N250S Missense 4/21 - 1
4-55565926-C-A c.750C>A p.N250K Missense 4/21 - 3
4-55565926-C-G c.750C>G p.N250K Missense 4/21 - 1
4-55565927-A-T c.751A>T p.S251C Missense 4/21 - 2
4-55565928-G-A c.752G>A p.S251N Missense 4/21 - 1
4-55565928-G-T c.752G>T p.S251I Missense 4/21 - 1
4-55565927-A-C c.751A>C p.S251R Missense 4/21 - 1
4-55565929-T-A c.753T>A p.S251R Missense 4/21 - 1
4-55565929-T-G c.753T>G p.S251R Missense 4/21 - 1
4-55565930-C-G c.754C>G p.Q252E Missense 4/21 - 3
4-55565931-A-G c.755A>G p.Q252R Missense 4/21 - 3
4-55565932-G-C c.756G>C p.Q252H Missense 4/21 - 24
4-55565932-G-T c.756G>T p.Q252H Missense 4/21 - 23
4-55565959-T-G c.756+27T>G - IntronicSNV - 4/20 1
4-55566023-G-A c.756+91G>A - IntronicSNV - 4/20 1
4-55566031-C-A c.756+99C>A - IntronicSNV - 4/20 1
4-55566075-A-G c.756+143A>G - IntronicSNV - 4/20 2
4-55566266-G-A c.756+334G>A - IntronicSNV - 4/20 1
4-55566266-G-C c.756+334G>C - IntronicSNV - 4/20 1
4-55566355-A-T c.756+423A>T - IntronicSNV - 4/20 1
4-55566643-A-C c.756+711A>C - IntronicSNV - 4/20 1
4-55566643-A-G c.756+711A>G - IntronicSNV - 4/20 1
4-55567200-C-T c.756+1268C>T - IntronicSNV - 4/20 1
4-55567214-A-G c.756+1282A>G - IntronicSNV - 4/20 1
4-55567392-T-C c.756+1460T>C - IntronicSNV - 4/20 1
4-55567659-GGA-G c.756+1729_756+1730del - IntronicDeletion - 4/20 1
4-55567806-A-ACT c.756+1875_756+1876dup - IntronicInsertion - 4/20 1
4-55567888-A-C c.756+1956A>C - IntronicSNV - 4/20 1
4-55567972-G-C c.757-1918G>C - IntronicSNV - 4/20 1
4-55568229-A-G c.757-1661A>G - IntronicSNV - 4/20 1
4-55568237-A-C c.757-1653A>C - IntronicSNV - 4/20 1
4-55568539-G-T c.757-1351G>T - IntronicSNV - 4/20 1
4-55568712-C-T c.757-1178C>T - IntronicSNV - 4/20 1
4-55569042-C-A c.757-848C>A - IntronicSNV - 4/20 1
4-55569146-T-C c.757-744T>C - IntronicSNV - 4/20 1
4-55569332-G-A c.757-558G>A - IntronicSNV - 4/20 1
4-55569660-C-T c.757-230C>T - IntronicSNV - 4/20 1
4-55569869-C-T c.757-21C>T - IntronicSNV - 4/20 1
4-55569881-A-G c.757-9A>G - IntronicSNV - 4/20 2
4-55569883-C-G c.757-7C>G - IntronicSNV - 4/20 1
4-55569890-AC-TT c.757_758delinsTT p.T253F Missense 5/21 - 1
4-55569891-C-A c.758C>A p.T253N Missense 5/21 - 2
4-55569892-TA-T c.762del p.K254Nfs*22 Frameshift 5/21 - 1
4-55569896-CT-GA c.763_764delinsGA p.L255E Missense 5/21 - 1
4-55569897-T-A c.764T>A p.L255Q Missense 5/21 - 1
4-55569900-A-T c.767A>T p.Q256L Missense 5/21 - 1
4-55569901-G-C c.768G>C p.Q256H Missense 5/21 - 2
4-55569901-G-T c.768G>T p.Q256H Missense 5/21 - 1
4-55569902-G-A c.769G>A p.E257K Missense 5/21 - 4
4-55569902-G-C c.769G>C p.E257Q Missense 5/21 - 6
4-55569904-G-C c.771G>C p.E257D Missense 5/21 - 8
4-55569904-G-T c.771G>T p.E257D Missense 5/21 - 12
4-55569907-A-C c.774A>C p.K258N Missense 5/21 - 1
4-55569907-A-T c.774A>T p.K258N Missense 5/21 - 1
4-55569911-A-G c.778A>G p.N260D Missense 5/21 - 1
4-55569912-A-C c.779A>C p.N260T Missense 5/21 - 4
4-55569912-A-G c.779A>G p.N260S Missense 5/21 - 1
4-55569912-A-AT c.780dup p.S261* Nonsense 5/21 - 1
4-55569914-A-G c.781A>G p.S261G Missense 5/21 - 1
4-55569914-A-T c.781A>T p.S261C Missense 5/21 - 2
4-55569915-G-A c.782G>A p.S261N Missense 5/21 - 2
4-55569914-A-C c.781A>C p.S261R Missense 5/21 - 1
4-55569916-C-A c.783C>A p.S261R Missense 5/21 - 1
4-55569916-C-G c.783C>G p.S261R Missense 5/21 - 1
4-55569917-T-A c.784T>A p.W262R Missense 5/21 - 1
4-55569917-T-C c.784T>C p.W262R Missense 5/21 - 1
4-55569918-G-A c.785G>A p.W262* Nonsense 5/21 - 1
4-55569919-G-A c.786G>A p.W262* Nonsense 5/21 - 2
4-55569922-T-A c.789T>A p.H263Q Missense 5/21 - 1
4-55569922-T-C c.789T>C p.H263= Synonymous 5/21 - 1
4-55569922-T-G c.789T>G p.H263Q Missense 5/21 - 2
4-55569923-C-T c.790C>T p.H264Y Missense 5/21 - 1
4-55569924-A-C c.791A>C p.H264P Missense 5/21 - 1
4-55569924-A-G c.791A>G p.H264R Missense 5/21 - 1
4-55569925-C-A c.792C>A p.H264Q Missense 5/21 - 1
4-55569925-C-G c.792C>G p.H264Q Missense 5/21 - 1
4-55569926-G-A c.793G>A p.G265S Missense 5/21 - 6
4-55569926-G-C c.793G>C p.G265R Missense 5/21 - 1
4-55569926-G-T c.793G>T p.G265C Missense 5/21 - 1
4-55569928-T-A c.795T>A p.G265= Synonymous 5/21 - 1
4-55569928-T-C c.795T>C p.G265= Synonymous 5/21 - 1
4-55569928-T-G c.795T>G p.G265= Synonymous 5/21 - 1
4-55569929-G-A c.796G>A p.D266N Missense 5/21 - 2
4-55569929-G-T c.796G>T p.D266Y Missense 5/21 - 2
4-55569930-A-C c.797A>C p.D266A Missense 5/21 - 3
4-55569932-T-C c.799T>C p.F267L Missense 5/21 - 2
4-55569934-C-A c.801C>A p.F267L Missense 5/21 - 2
4-55569934-C-G c.801C>G p.F267L Missense 5/21 - 2
4-55569934-C-T c.801C>T p.F267= Synonymous 5/21 - 1
4-55569935-A-T c.802A>T p.N268Y Missense 5/21 - 3
4-55569937-ATTAT-A c.804_807del p.N268Kfs*7 Frameshift 5/21 - 1
4-55569939-A-G c.806A>G p.Y269C Missense 5/21 - 2
4-55569941-G-A c.808G>A p.E270K Missense 5/21 - 4
4-55569941-G-C c.808G>C p.E270Q Missense 5/21 - 1
4-55569941-G-T c.808G>T p.E270* Nonsense 5/21 - 1
4-55569942-A-G c.809A>G p.E270G Missense 5/21 - 1
4-55569944-C-T c.811C>T p.R271C Missense 5/21 - 5
4-55569945-G-A c.812G>A p.R271H Missense 5/21 - 5
4-55569947-C-A c.814C>A p.Q272K Missense 5/21 - 1
4-55569947-C-G c.814C>G p.Q272E Missense 5/21 - 1
4-55569948-A-C c.815A>C p.Q272P Missense 5/21 - 1
4-55569950-G-A c.817G>A p.A273T Missense 5/21 - 1
4-55569950-G-T c.817G>T p.A273S Missense 5/21 - 1
4-55569951-C-A c.818C>A p.A273E Missense 5/21 - 1
4-55569951-C-G c.818C>G p.A273G Missense 5/21 - 1
4-55569951-C-T c.818C>T p.A273V Missense 5/21 - 2
4-55569951-CA-C c.820del p.T274Rfs*2 Frameshift 5/21 - 1
4-55569954-C-A c.821C>A p.T274K Missense 5/21 - 1
4-55569954-C-T c.821C>T p.T274M Missense 5/21 - 11
4-55569955-G-A c.822G>A p.T274= Synonymous 5/21 - 1
4-55569953-ACGTTGACTATCAGTTCAG-A c.823_840del p.L275_A280del InFrameDeletion 5/21 - 1
4-55569956-TT-CC c.823_824delinsCC p.L275P Missense 5/21 - 1
4-55569958-G-T c.825G>T p.L275F Missense 5/21 - 1
4-55569958-TG-T c.825del p.T276Lfs*32 Frameshift 5/21 - 1
4-55569960-CT-TG c.827_828delinsTG p.T276M Missense 5/21 - 1
4-55569962-A-G c.829A>G p.I277V Missense 5/21 - 1
4-55569962-A-T c.829A>T p.I277F Missense 5/21 - 1
4-55569964-C-G c.831C>G p.I277M Missense 5/21 - 1
4-55569966-G-A c.833G>A p.S278N Missense 5/21 - 1
4-55569966-G-T c.833G>T p.S278I Missense 5/21 - 1
4-55569965-A-C c.832A>C p.S278R Missense 5/21 - 2
4-55569967-T-A c.834T>A p.S278R Missense 5/21 - 3
4-55569967-T-C c.834T>C p.S278= Synonymous 5/21 - 2
4-55569967-T-G c.834T>G p.S278R Missense 5/21 - 2
4-55569968-TC-GG c.835_836delinsGG p.S279G Missense 5/21 - 1
4-55569969-C-A c.836C>A p.S279* Nonsense 5/21 - 1
4-55569969-CA-AT c.836_837delinsAT p.S279Y Missense 5/21 - 1
4-55569969-C-T c.836C>T p.S279L Missense 5/21 - 1
4-55569971-AGCGAGAGTT-A c.838_846del p.A280_V282del InFrameDeletion 5/21 - 1
4-55569971-G-A c.838G>A p.A280T Missense 5/21 - 1
4-55569972-C-A c.839C>A p.A280E Missense 5/21 - 2
4-55569972-C-T c.839C>T p.A280V Missense 5/21 - 19
4-55569973-G-A c.840G>A p.A280= Synonymous 5/21 - 3
4-55569973-G-C c.840G>C p.A280= Synonymous 5/21 - 2
4-55569973-G-T c.840G>T p.A280= Synonymous 5/21 - 2
4-55569974-AGA-TGG c.841_843delinsTGG p.R281W Missense 5/21 - 2
4-55569974-AGA-TGT c.841_843delinsTGT p.R281C Missense 5/21 - 1
4-55569974-AG-CA c.841_842delinsCA p.R281Q Missense 5/21 - 2
4-55569975-G-A c.842G>A p.R281K Missense 5/21 - 3
4-55569976-A-C c.843A>C p.R281S Missense 5/21 - 2
4-55569976-A-T c.843A>T p.R281S Missense 5/21 - 3
4-55569977-G-A c.844G>A p.V282I Missense 5/21 - 1
4-55569978-T-A c.845T>A p.V282D Missense 5/21 - 1
4-55569979-T-A c.846T>A p.V282= Synonymous 5/21 - 1
4-55569979-T-C c.846T>C p.V282= Synonymous 5/21 - 3
4-55569979-T-G c.846T>G p.V282= Synonymous 5/21 - 2
4-55569980-A-G c.847A>G p.N283D Missense 5/21 - 1
4-55569982-T-C c.849T>C p.N283= Synonymous 5/21 - 1
4-55569983-G-C c.850G>C p.D284H Missense 5/21 - 1
4-55569983-G-T c.850G>T p.D284Y Missense 5/21 - 1
4-55569986-T-C c.853T>C p.S285P Missense 5/21 - 1
4-55569989-G-A c.856G>A p.G286R Missense 5/21 - 2
4-55569989-G-C c.856G>C p.G286R Missense 5/21 - 1
4-55569990-G-A c.857G>A p.G286E Missense 5/21 - 1
4-55569990-G-T c.857G>T p.G286V Missense 5/21 - 2
4-55569992-G-A c.859G>A p.V287M Missense 5/21 - 2
4-55569992-G-C c.859G>C p.V287L Missense 5/21 - 1
4-55569992-G-T c.859G>T p.V287L Missense 5/21 - 2
4-55569997-C-T c.864C>T p.F288= Synonymous 5/21 - 2
4-55569996-T-TCAGG c.865_866insGGCA p.M289Rfs*7 Frameshift 5/21 - 1
4-55569998-A-G c.865A>G p.M289V Missense 5/21 - 1
4-55570003-T-G c.870T>G p.C290W Missense 5/21 - 1
4-55570002-G-GT c.871dup p.Y291Lfs*4 Frameshift 5/21 - 1
4-55570005-A-G c.872A>G p.Y291C Missense 5/21 - 2
4-55570006-T-C c.873T>C p.Y291= Synonymous 5/21 - 1
4-55570008-C-T c.875C>T p.A292V Missense 5/21 - 4
4-55570010-A-AGCT c.877_878insGCT p.N293delinsSY MultiAAMissense 5/21 - 1
4-55570011-A-C c.878A>C p.N293T Missense 5/21 - 1
4-55570011-A-G c.878A>G p.N293S Missense 5/21 - 6
4-55570013-A-T c.880A>T p.N294Y Missense 5/21 - 1
4-55570014-A-C c.881A>C p.N294T Missense 5/21 - 1
4-55570015-T-C c.882T>C p.N294= Synonymous 5/21 - 1
4-55570017-C-T c.884C>T p.T295I Missense 5/21 - 1
4-55570018-T-A c.885T>A p.T295= Synonymous 5/21 - 1
4-55570018-T-C c.885T>C p.T295= Synonymous 5/21 - 1
4-55570018-T-G c.885T>G p.T295= Synonymous 5/21 - 2
4-55570019-T-A c.886T>A p.F296I Missense 5/21 - 1
4-55570019-T-C c.886T>C p.F296L Missense 5/21 - 1
4-55570022-G-A c.889G>A p.G297R Missense 5/21 - 1
4-55570023-G-A c.890G>A p.G297E Missense 5/21 - 2
4-55570025-T-C c.892T>C p.S298P Missense 5/21 - 2
4-55570026-C-A c.893C>A p.S298* Nonsense 5/21 - 1
4-55570026-C-G c.893C>G p.S298* Nonsense 5/21 - 1
4-55570028-G-A c.895G>A p.A299T Missense 5/21 - 3
4-55570029-C-T c.896C>T p.A299V Missense 5/21 - 5
4-55570033-T-A c.900T>A p.N300K Missense 5/21 - 2
4-55570033-T-G c.900T>G p.N300K Missense 5/21 - 2
4-55570034-G-A c.901G>A p.V301I Missense 5/21 - 3
4-55570034-G-T c.901G>T p.V301F Missense 5/21 - 1
4-55570036-C-A c.903C>A p.V301= Synonymous 5/21 - 2
4-55570036-C-G c.903C>G p.V301= Synonymous 5/21 - 2
4-55570036-C-T c.903C>T p.V301= Synonymous 5/21 - 1
4-55570037-A-G c.904A>G p.T302A Missense 5/21 - 1
4-55570037-A-T c.904A>T p.T302S Missense 5/21 - 1
4-55570038-C-T c.905C>T p.T302I Missense 5/21 - 8
4-55570040-A-G c.907A>G p.T303A Missense 5/21 - 2
4-55570040-A-T c.907A>T p.T303S Missense 5/21 - 1
4-55570041-C-A c.908C>A p.T303K Missense 5/21 - 1
4-55570041-CA-TG c.908_909inv p.T303M Missense 5/21 - 1
4-55570041-C-T c.908C>T p.T303I Missense 5/21 - 1
4-55570043-A-G c.910A>G p.T304A Missense 5/21 - 11
4-55570043-A-T c.910A>T p.T304S Missense 5/21 - 2
4-55570044-C-G c.911C>G p.T304S Missense 5/21 - 1
4-55570044-C-T c.911C>T p.T304I Missense 5/21 - 1
4-55570043-AC-A c.912del p.L305Wfs*3 Frameshift 5/21 - 1
4-55570046-T-C c.913T>C p.L305= Synonymous 5/21 - 1
4-55570048-G-A c.915G>A p.L305= Synonymous 5/21 - 1
4-55570048-G-C c.915G>C p.L305F Missense 5/21 - 1
4-55570048-G-T c.915G>T p.L305F Missense 5/21 - 1
4-55570049-G-A c.916G>A p.E306K Missense 5/21 - 5
4-55570049-G-C c.916G>C p.E306Q Missense 5/21 - 1
4-55570049-G-T c.916G>T p.E306* Nonsense 5/21 - 2
4-55570050-A-C c.917A>C p.E306A Missense 5/21 - 1
4-55570051-A-G c.918A>G p.E306= Synonymous 5/21 - 1
4-55570052-GTA-ATG c.919_921delinsATG p.V307M Missense 5/21 - 1
4-55570053-T-G c.920T>G p.V307G Missense 5/21 - 3
4-55570054-A-C c.921A>C p.V307= Synonymous 5/21 - 1
4-55570054-A-G c.921A>G p.V307= Synonymous 5/21 - 1
4-55570054-A-T c.921A>T p.V307= Synonymous 5/21 - 1
4-55570055-G-A c.922G>A p.V308I Missense 5/21 - 1
4-55570055-G-T c.922G>T p.V308L Missense 5/21 - 2
4-55570055-GTA-ATG c.922_924delinsATG p.V308M Missense 5/21 - 1
4-55570057-AG-GT c.924_925delinsGT p.D309Y SpliceDonorBlockSubstitution 5/21 - 1
4-55570058-G-A c.925G>A p.D309N Missense 5/21 - 2
4-55570058-G-T c.925G>T p.D309Y Missense 5/21 - 2
4-55570151-C-A c.925+93C>A - IntronicSNV - 5/20 1
4-55570157-C-A c.925+99C>A - IntronicSNV - 5/20 1
4-55570203-C-T c.925+145C>T - IntronicSNV - 5/20 1
4-55570461-G-A c.925+403G>A - IntronicSNV - 5/20 1
4-55570634-C-T c.925+576C>T - IntronicSNV - 5/20 1
4-55570849-T-G c.925+791T>G - IntronicSNV - 5/20 1
4-55570986-C-G c.925+928C>G - IntronicSNV - 5/20 1
4-55570986-C-T c.925+928C>T - IntronicSNV - 5/20 1
4-55571441-C-G c.925+1383C>G - IntronicSNV - 5/20 2
4-55571441-C-T c.925+1383C>T - IntronicSNV - 5/20 2
4-55571958-G-C c.926-1306G>C - IntronicSNV - 5/20 1
4-55571959-G-A c.926-1305G>A - IntronicSNV - 5/20 1
4-55572024-G-A c.926-1240G>A - IntronicSNV - 5/20 1
4-55572250-C-T c.926-1014C>T - IntronicSNV - 5/20 1
4-55572414-A-G c.926-850A>G - IntronicSNV - 5/20 1
4-55572872-C-T c.926-392C>T - IntronicSNV - 5/20 1
4-55572944-A-C c.926-320A>C - IntronicSNV - 5/20 1
4-55572944-A-G c.926-320A>G - IntronicSNV - 5/20 1
4-55572970-T-A c.926-294T>A - IntronicSNV - 5/20 1
4-55573264-A-C c.926A>C p.D309A Missense 6/21 - 1
4-55573264-A-G c.926A>G p.D309G Missense 6/21 - 1
4-55573264-A-T c.926A>T p.D309V Missense 6/21 - 1
4-55573266-A-G c.928A>G p.K310E Missense 6/21 - 1
4-55573267-A-G c.929A>G p.K310R Missense 6/21 - 1
4-55573267-A-T c.929A>T p.K310I Missense 6/21 - 1
4-55573265-TA-T c.930del p.G311Dfs*8 Frameshift 6/21 - 1
4-55573268-A-G c.930A>G p.K310= Synonymous 6/21 - 1
4-55573269-GGA-AGC c.931_933delinsAGC p.G311S Missense 6/21 - 1
4-55573270-GA-AC c.932_933delinsAC p.G311D Missense 6/21 - 1
4-55573276-T-TCGGTC c.938_939insCGGTC p.N314Gfs*7 Frameshift 6/21 - 1
4-55573277-T-C c.939T>C p.I313= Synonymous 6/21 - 1
4-55573279-A-C c.941A>C p.N314T Missense 6/21 - 1
4-55573282-T-A c.944T>A p.I315N Missense 6/21 - 1
4-55573283-C-G c.945C>G p.I315M Missense 6/21 - 2
4-55573284-T-C c.946T>C p.F316L Missense 6/21 - 1
4-55573286-C-A c.948C>A p.F316L Missense 6/21 - 1
4-55573286-C-G c.948C>G p.F316L Missense 6/21 - 1
4-55573285-T-G c.947T>G p.F316C Missense 6/21 - 1
4-55573287-C-T c.949C>T p.P317S Missense 6/21 - 3
4-55573288-C-G c.950C>G p.P317R Missense 6/21 - 1
4-55573288-C-T c.950C>T p.P317L Missense 6/21 - 1
4-55573285-T-TC c.951dup p.M318Hfs*19 Frameshift 6/21 - 1
4-55573290-A-C c.952A>C p.M318L Missense 6/21 - 1
4-55573290-A-G c.952A>G p.M318V Missense 6/21 - 6
4-55573290-A-T c.952A>T p.M318L Missense 6/21 - 1
4-55573292-G-A c.954G>A p.M318I Missense 6/21 - 2
4-55573292-G-C c.954G>C p.M318I Missense 6/21 - 1
4-55573292-G-T c.954G>T p.M318I Missense 6/21 - 2
4-55573293-A-G c.955A>G p.I319V Missense 6/21 - 1
4-55573295-A-G c.957A>G p.I319M Missense 6/21 - 1
4-55573296-A-C c.958A>C p.N320H Missense 6/21 - 1
4-55573296-A-G c.958A>G p.N320D Missense 6/21 - 2
4-55573299-A-G c.961A>G p.T321A Missense 6/21 - 1
4-55573300-ACTACAGT-A c.962_968del p.T321Nfs*3 Frameshift 6/21 - 1
4-55573302-A-G c.964A>G p.T322A Missense 6/21 - 3
4-55573302-A-T c.964A>T p.T322S Missense 6/21 - 2
4-55573303-C-T c.965C>T p.T322I Missense 6/21 - 1
4-55573305-G-A c.967G>A p.V323I Missense 6/21 - 2
4-55573307-A-G c.969A>G p.V323= Synonymous 6/21 - 1
4-55573314-A-G c.976A>G p.N326D Missense 6/21 - 2
4-55573315-A-G c.977A>G p.N326S Missense 6/21 - 1
4-55573316-C-G c.978C>G p.N326K Missense 6/21 - 1
4-55573316-C-T c.978C>T p.N326= Synonymous 6/21 - 2
4-55573317-G-A c.979G>A p.D327N Missense 6/21 - 1
4-55573317-G-C c.979G>C p.D327H Missense 6/21 - 1
4-55573317-G-T c.979G>T p.D327Y Missense 6/21 - 3
4-55573318-A-G c.980A>G p.D327G Missense 6/21 - 1
4-55573320-G-T c.982G>T p.G328* Nonsense 6/21 - 1
4-55573321-G-A c.983G>A p.G328E Missense 6/21 - 1
4-55573321-G-C c.983G>C p.G328A Missense 6/21 - 2
4-55573323-G-A c.985G>A p.E329K Missense 6/21 - 1
4-55573323-G-T c.985G>T p.E329* Nonsense 6/21 - 1
4-55573324-A-T c.986A>T p.E329V Missense 6/21 - 1
4-55573326-A-C c.988A>C p.N330H Missense 6/21 - 1
4-55573326-A-G c.988A>G p.N330D Missense 6/21 - 4
4-55573327-A-G c.989A>G p.N330S Missense 6/21 - 1
4-55573327-A-T c.989A>T p.N330I Missense 6/21 - 1
4-55573329-G-C c.991G>C p.V331L Missense 6/21 - 1
4-55573329-G-T c.991G>T p.V331L Missense 6/21 - 1
4-55573332-G-C c.994G>C p.D332H Missense 6/21 - 2
4-55573336-T-C c.998T>C p.L333S Missense 6/21 - 1
4-55573337-G-C c.999G>C p.L333F Missense 6/21 - 1
4-55573338-AT-GG c.1000_1001delinsGG p.I334G Missense 6/21 - 1
4-55573339-TT-AG c.1001_1002delinsAG p.I334K Missense 6/21 - 1
4-55573341-G-A c.1003G>A p.V335I Missense 6/21 - 1
4-55573341-G-C c.1003G>C p.V335L Missense 6/21 - 1
4-55573342-T-C c.1004T>C p.V335A Missense 6/21 - 2
4-55573344-TG-T c.1006del p.E336Nfs*16 Frameshift 6/21 - 1
4-55573346-A-C c.1008A>C p.E336D Missense 6/21 - 1
4-55573346-A-T c.1008A>T p.E336D Missense 6/21 - 1
4-55573350-G-A c.1012G>A p.E338K Missense 6/21 - 2
4-55573352-A-G c.1014A>G p.E338= Synonymous 6/21 - 1
4-55573353-G-A c.1015G>A p.A339T Missense 6/21 - 1
4-55573353-G-T c.1015G>T p.A339S Missense 6/21 - 1
4-55573354-C-A c.1016C>A p.A339E Missense 6/21 - 2
4-55573354-C-T c.1016C>T p.A339V Missense 6/21 - 2
4-55573358-C-T c.1020C>T p.F340= Synonymous 6/21 - 1
4-55573359-C-T c.1021C>T p.P341S Missense 6/21 - 3
4-55573360-C-A c.1022C>A p.P341H Missense 6/21 - 1
4-55573360-C-T c.1022C>T p.P341L Missense 6/21 - 1
4-55573365-C-G c.1027C>G p.P343A Missense 6/21 - 1
4-55573365-C-T c.1027C>T p.P343S Missense 6/21 - 1
4-55573366-C-T c.1028C>T p.P343L Missense 6/21 - 1
4-55573368-G-C c.1030G>C p.E344Q Missense 6/21 - 2
4-55573371-C-A c.1033C>A p.H345N Missense 6/21 - 1
4-55573372-A-G c.1034A>G p.H345R Missense 6/21 - 1
4-55573374-C-T c.1036C>T p.Q346* Nonsense 6/21 - 1
4-55573375-A-T c.1037A>T p.Q346L Missense 6/21 - 1
4-55573377-C-A c.1039C>A p.Q347K Missense 6/21 - 2
4-55573377-C-T c.1039C>T p.Q347* Nonsense 6/21 - 1
4-55573378-A-G c.1040A>G p.Q347R Missense 6/21 - 1
4-55573379-G-A c.1041G>A p.Q347= Synonymous 6/21 - 1
4-55573379-G-C c.1041G>C p.Q347H Missense 6/21 - 1
4-55573379-G-T c.1041G>T p.Q347H Missense 6/21 - 2
4-55573381-G-T c.1043G>T p.W348L Missense 6/21 - 1
4-55573382-G-A c.1044G>A p.W348* Nonsense 6/21 - 2
4-55573382-G-C c.1044G>C p.W348C Missense 6/21 - 2
4-55573382-G-T c.1044G>T p.W348C Missense 6/21 - 1
4-55573385-C-A c.1047C>A p.I349= Synonymous 6/21 - 1
4-55573385-C-T c.1047C>T p.I349= Synonymous 6/21 - 1
4-55573386-T-A c.1048T>A p.Y350N Missense 6/21 - 1
4-55573388-T-A c.1050T>A p.Y350* Nonsense 6/21 - 1
4-55573389-A-G c.1051A>G p.M351V Missense 6/21 - 1
4-55573389-A-T c.1051A>T p.M351L Missense 6/21 - 1
4-55573389-AT-GA c.1051_1052delinsGA p.M351E Missense 6/21 - 1
4-55573389-AT-GC c.1051_1052delinsGC p.M351A Missense 6/21 - 1
4-55573390-T-A c.1052T>A p.M351K Missense 6/21 - 1
4-55573390-T-C c.1052T>C p.M351T Missense 6/21 - 27
4-55573390-T-TG c.1053dup p.N352Efs*6 Frameshift 6/21 - 1
4-55573391-G-A c.1053G>A p.M351I Missense 6/21 - 5
4-55573391-G-C c.1053G>C p.M351I Missense 6/21 - 3
4-55573391-G-T c.1053G>T p.M351I Missense 6/21 - 3
4-55573393-A-G c.1055A>G p.N352S Missense 6/21 - 1
4-55573394-C-G c.1056C>G p.N352K Missense 6/21 - 1
4-55573397-A-C c.1059A>C p.R353S Missense 6/21 - 2
4-55573397-A-T c.1059A>T p.R353S Missense 6/21 - 1
4-55573398-AC-GG c.1060_1061delinsGG p.T354G Missense 6/21 - 1
4-55573398-AC-TG c.1060_1061delinsTG p.T354C Missense 6/21 - 1
4-55573399-C-T c.1061C>T p.T354I Missense 6/21 - 2
4-55573400-C-T c.1062C>T p.T354= Synonymous 6/21 - 2
4-55573401-T-A c.1063T>A p.F355I Missense 6/21 - 2
4-55573401-T-C c.1063T>C p.F355L Missense 6/21 - 1
4-55573403-C-A c.1065C>A p.F355L Missense 6/21 - 1
4-55573403-C-G c.1065C>G p.F355L Missense 6/21 - 1
4-55573404-AC-GA c.1066_1067delinsGA p.T356D Missense 6/21 - 1
4-55573404-A-G c.1066A>G p.T356A Missense 6/21 - 1
4-55573404-A-T c.1066A>T p.T356S Missense 6/21 - 1
4-55573407-G-C c.1069G>C p.D357H Missense 6/21 - 1
4-55573411-A-C c.1073A>C p.K358T Missense 6/21 - 1
4-55573413-T-A c.1075T>A p.W359R Missense 6/21 - 2
4-55573413-T-C c.1075T>C p.W359R Missense 6/21 - 2
4-55573414-G-A c.1076G>A p.W359* Nonsense 6/21 - 1
4-55573415-G-A c.1077G>A p.W359* Nonsense 6/21 - 1
4-55573416-G-A c.1078G>A p.E360K Missense 6/21 - 3
4-55573416-G-T c.1078G>T p.E360* Nonsense 6/21 - 1
4-55573418-A-C c.1080A>C p.E360D Missense 6/21 - 1
4-55573419-G-A c.1081G>A p.D361N Missense 6/21 - 7
4-55573419-G-C c.1081G>C p.D361H Missense 6/21 - 3
4-55573419-G-T c.1081G>T p.D361Y Missense 6/21 - 1
4-55573420-A-G c.1082A>G p.D361G Missense 6/21 - 1
4-55573421-T-A c.1083T>A p.D361E Missense 6/21 - 4
4-55573421-T-G c.1083T>G p.D361E Missense 6/21 - 4
4-55573422-T-C c.1084T>C p.Y362H Missense 6/21 - 1
4-55573423-A-C c.1085A>C p.Y362S Missense 6/21 - 1
4-55573423-A-G c.1085A>G p.Y362C Missense 6/21 - 4
4-55573423-A-T c.1085A>T p.Y362F Missense 6/21 - 2
4-55573424-T-C c.1086T>C p.Y362= Synonymous 6/21 - 1
4-55573425-C-T c.1087C>T p.P363S Missense 6/21 - 12
4-55573426-C-A c.1088C>A p.P363H Missense 6/21 - 3
4-55573426-C-T c.1088C>T p.P363L Missense 6/21 - 3
4-55573428-A-T c.1090A>T p.K364* Nonsense 6/21 - 1
4-55573429-A-G c.1091A>G p.K364R Missense 6/21 - 2
4-55573431-T-A c.1093T>A p.S365T Missense 6/21 - 3
4-55573434-G-A c.1096G>A p.E366K Missense 6/21 - 3
4-55573436-G-C c.1098G>C p.E366D Missense 6/21 - 2
4-55573436-G-T c.1098G>T p.E366D Missense 6/21 - 2
4-55573437-A-C c.1099A>C p.N367H Missense 6/21 - 1
4-55573437-A-G c.1099A>G p.N367D Missense 6/21 - 1
4-55573440-G-A c.1102G>A p.E368K Missense 6/21 - 2
4-55573443-A-G c.1105A>G p.S369G Missense 6/21 - 1
4-55573444-G-A c.1106G>A p.S369N Missense 6/21 - 1
4-55573444-G-C c.1106G>C p.S369T Missense 6/21 - 1
4-55573447-A-G c.1109A>G p.N370S Missense 6/21 - 2
4-55573447-A-T c.1109A>T p.N370I Missense 6/21 - 1
4-55573451-C-T c.1113C>T p.I371= Synonymous 6/21 - 2
4-55573484-C-A c.1115+31C>A - IntronicSNV - 6/20 1
4-55573500-C-T c.1115+47C>T - IntronicSNV - 6/20 1
4-55573693-G-A c.1115+240G>A - IntronicSNV - 6/20 5
4-55573819-A-G c.1115+366A>G - IntronicSNV - 6/20 1
4-55573935-G-A c.1115+482G>A - IntronicSNV - 6/20 1
4-55574011-A-C c.1115+558A>C - IntronicSNV - 6/20 1
4-55574182-C-G c.1115+729C>G - IntronicSNV - 6/20 1
4-55574182-C-T c.1115+729C>T - IntronicSNV - 6/20 1
4-55574930-G-A c.1116-660G>A - IntronicSNV - 6/20 1
4-55574943-A-G c.1116-647A>G - IntronicSNV - 6/20 1
4-55575144-G-A c.1116-446G>A - IntronicSNV - 6/20 1
4-55575154-C-G c.1116-436C>G - IntronicSNV - 6/20 1
4-55575154-C-T c.1116-436C>T - IntronicSNV - 6/20 1
4-55575274-C-G c.1116-316C>G - IntronicSNV - 6/20 2
4-55575399-C-T c.1116-191C>T - IntronicSNV - 6/20 1
4-55575590-A-T c.1116A>T p.R372S Missense 7/21 - 1
4-55575592-A-G c.1118A>G p.Y373C Missense 7/21 - 10
4-55575593-C-T c.1119C>T p.Y373= Synonymous 7/21 - 3
4-55575594-CGTA-C c.1120_1122del p.V374del InFrameDeletion 7/21 - 1
4-55575594-G-A c.1120G>A p.V374I Missense 7/21 - 5
4-55575594-G-T c.1120G>T p.V374L Missense 7/21 - 1
4-55575595-T-C c.1121T>C p.V374A Missense 7/21 - 1
4-55575595-T-TA c.1123dup p.S375Kfs*2 Frameshift 7/21 - 1
4-55575597-AG-CT c.1123_1124inv p.S375L Missense 7/21 - 2
4-55575597-AG-TT c.1123_1124delinsTT p.S375F Missense 7/21 - 1
4-55575600-G-T c.1126G>T p.E376* Nonsense 7/21 - 1
4-55575603-C-A c.1129C>A p.L377I Missense 7/21 - 2
4-55575606-C-T c.1132C>T p.H378Y Missense 7/21 - 1
4-55575609-C-A c.1135C>A p.L379I Missense 7/21 - 2
4-55575609-CT-TA c.1135_1136delinsTA p.L379* Nonsense 7/21 - 1
4-55575610-T-TA c.1138dup p.T380Nfs*19 Frameshift 7/21 - 1
4-55575612-A-G c.1138A>G p.T380A Missense 7/21 - 2
4-55575613-C-A c.1139C>A p.T380K Missense 7/21 - 1
4-55575613-C-G c.1139C>G p.T380R Missense 7/21 - 2
4-55575613-C-T c.1139C>T p.T380M Missense 7/21 - 1
4-55575614-G-A c.1140G>A p.T380= Synonymous 7/21 - 1
4-55575614-G-GT c.1140_1141insT p.R381* Nonsense 7/21 - 1
4-55575614-G-T c.1140G>T p.T380= Synonymous 7/21 - 1
4-55575615-A-G c.1141A>G p.R381G Missense 7/21 - 1
4-55575615-AG-CA c.1141_1142delinsCA p.R381Q Missense 7/21 - 1
4-55575615-AG-GC c.1141_1142delinsGC p.R381A Missense 7/21 - 1
4-55575616-G-T c.1142G>T p.R381I Missense 7/21 - 1
4-55575620-A-G c.1146A>G p.L382= Synonymous 7/21 - 1
4-55575622-A-T c.1148A>T p.K383I Missense 7/21 - 1
4-55575624-G-T c.1150G>T p.G384C Missense 7/21 - 1
4-55575625-G-A c.1151G>A p.G384D Missense 7/21 - 9
4-55575627-A-G c.1153A>G p.T385A Missense 7/21 - 1
4-55575628-C-T c.1154C>T p.T385I Missense 7/21 - 1
4-55575629-C-T c.1155C>T p.T385= Synonymous 7/21 - 1
4-55575630-G-A c.1156G>A p.E386K Missense 7/21 - 9
4-55575633-G-A c.1159G>A p.G387R Missense 7/21 - 3
4-55575633-G-C c.1159G>C p.G387R Missense 7/21 - 2
4-55575634-G-A c.1160G>A p.G387E Missense 7/21 - 1
4-55575636-G-A c.1162G>A p.G388S Missense 7/21 - 1
4-55575636-G-C c.1162G>C p.G388R Missense 7/21 - 3
4-55575637-G-A c.1163G>A p.G388D Missense 7/21 - 2
4-55575637-GGCACTTA-G c.1163_1169del p.G388Afs*4 Frameshift 7/21 - 1
4-55575638-C-T c.1164C>T p.G388= Synonymous 7/21 - 1
4-55575639-A-G c.1165A>G p.T389A Missense 7/21 - 1
4-55575640-AC-A c.1166del p.T389Ifs*5 Frameshift 7/21 - 1
4-55575642-T-C c.1168T>C p.Y390H Missense 7/21 - 2
4-55575643-A-G c.1169A>G p.Y390C Missense 7/21 - 1
4-55575645-A-C c.1171A>C p.T391P Missense 7/21 - 3
4-55575645-A-G c.1171A>G p.T391A Missense 7/21 - 2
4-55575646-C-A c.1172C>A p.T391K Missense 7/21 - 1
4-55575646-C-T c.1172C>T p.T391I Missense 7/21 - 3
4-55575647-A-G c.1173A>G p.T391= Synonymous 7/21 - 2
4-55575649-T-G c.1175T>G p.F392C Missense 7/21 - 1
4-55575651-C-A c.1177C>A p.L393I Missense 7/21 - 2
4-55575652-T-C c.1178T>C p.L393P Missense 7/21 - 1
4-55575654-G-A c.1180G>A p.V394M Missense 7/21 - 1
4-55575658-C-T c.1184C>T p.S395F Missense 7/21 - 2
4-55575661-A-C c.1187A>C p.N396T Missense 7/21 - 1
4-55575661-A-G c.1187A>G p.N396S Missense 7/21 - 1
4-55575663-TC-CT c.1189_1190delinsCT p.S397L Missense 7/21 - 1
4-55575664-C-G c.1190C>G p.S397C Missense 7/21 - 1
4-55575664-C-T c.1190C>T p.S397F Missense 7/21 - 1
4-55575669-G-A c.1195G>A p.V399I Missense 7/21 - 24
4-55575669-G-C c.1195G>C p.V399L Missense 7/21 - 1
4-55575670-GT-G c.1196del p.V399Afs*5 Frameshift 7/21 - 1
4-55575670-T-C c.1196T>C p.V399A Missense 7/21 - 1
4-55575673-A-G c.1199A>G p.N400S Missense 7/21 - 8
4-55575673-A-T c.1199A>T p.N400I Missense 7/21 - 2
4-55575673-AT-TG c.1199_1200delinsTG p.N400M Missense 7/21 - 1
4-55575675-G-A c.1201G>A p.A401T Missense 7/21 - 3
4-55575675-GC-TG c.1201_1202delinsTG p.A401C Missense 7/21 - 2
4-55575675-GC-TT c.1201_1202delinsTT p.A401F Missense 7/21 - 1
4-55575675-G-T c.1201G>T p.A401S Missense 7/21 - 2
4-55575676-C-A c.1202C>A p.A401D Missense 7/21 - 3
4-55575676-CT-AG c.1202_1203inv p.A401E Missense 7/21 - 1
4-55575677-T-A c.1203T>A p.A401= Synonymous 7/21 - 1
4-55575677-T-C c.1203T>C p.A401= Synonymous 7/21 - 1
4-55575677-T-G c.1203T>G p.A401= Synonymous 7/21 - 1
4-55575678-G-A c.1204G>A p.A402T Missense 7/21 - 1
4-55575678-GC-TG c.1204_1205delinsTG p.A402C Missense 7/21 - 1
4-55575679-C-A c.1205C>A p.A402D Missense 7/21 - 1
4-55575679-CC-AG c.1205_1206delinsAG p.A402E Missense 7/21 - 1
4-55575679-C-T c.1205C>T p.A402V Missense 7/21 - 1
4-55575680-C-A c.1206C>A p.A402= Synonymous 7/21 - 1
4-55575680-C-G c.1206C>G p.A402= Synonymous 7/21 - 1
4-55575680-C-T c.1206C>T p.A402= Synonymous 7/21 - 1
4-55575681-A-G c.1207A>G p.I403V Missense 7/21 - 2
4-55575683-TA-T c.1209del p.I403Mfs*7 Frameshift 7/21 - 1
4-55575684-G-A c.1210G>A p.A404T Missense 7/21 - 5
4-55575685-C-A c.1211C>A p.A404E Missense 7/21 - 1
4-55575687-T-C c.1213T>C p.F405L Missense 7/21 - 1
4-55575689-T-A c.1215T>A p.F405L Missense 7/21 - 1
4-55575689-T-G c.1215T>G p.F405L Missense 7/21 - 1
4-55575688-T-C c.1214T>C p.F405S Missense 7/21 - 1
4-55575689-T-C c.1215T>C p.F405= Synonymous 7/21 - 1
4-55575691-A-T c.1217A>T p.N406I Missense 7/21 - 1
4-55575691-A-AT c.1218dup p.V407Cfs*41 Frameshift 7/21 - 1
4-55575692-T-C c.1218T>C p.N406= Synonymous 7/21 - 2
4-55575693-GTT-ATG c.1219_1221delinsATG p.V407M Missense 7/21 - 1
4-55575701-G-A c.1227G>A p.V409= Synonymous 7/21 - 1
4-55575701-G-C c.1227G>C p.V409= Synonymous 7/21 - 1
4-55575701-G-T c.1227G>T p.V409= Synonymous 7/21 - 1
4-55575702-A-T c.1228A>T p.N410Y Missense 7/21 - 1
4-55575703-A-AT c.1230dup p.T411Yfs*37 SpliceDonorInsertion 7/21 - 1
4-55575704-T-TC c.1230_1231insC p.T411Hfs*37 SpliceDonorInsertion 7/21 - 1
4-55575704-T-TG c.1230_1231insG p.T411Dfs*37 SpliceDonorInsertion 7/21 - 1
4-55575704-T-TA c.1231dup p.T411Nfs*37 SpliceDonorInsertion - - 1
4-55575705-A-G c.1231A>G p.T411A Missense 7/21 - 2
4-55575705-A-T c.1231A>T p.T411S Missense 7/21 - 1
4-55575706-G-T c.1231+1G>T - IntronicSNV - 7/20 1
4-55575717-G-A c.1231+12G>A - IntronicSNV - 7/20 1
4-55575837-A-G c.1231+132A>G - IntronicSNV - 7/20 1
4-55576079-C-T c.1231+374C>T - IntronicSNV - 7/20 1
4-55576228-G-T c.1231+523G>T - IntronicSNV - 7/20 1
4-55576294-C-G c.1231+589C>G - IntronicSNV - 7/20 1
4-55576623-G-A c.1231+918G>A - IntronicSNV - 7/20 1
4-55576773-C-CATG c.1231+1070_1231+1071insGAT - IntronicInsertion - 7/20 1
4-55576996-C-T c.1231+1291C>T - IntronicSNV - 7/20 1
4-55577116-G-A c.1231+1411G>A - IntronicSNV - 7/20 1
4-55577252-G-C c.1231+1547G>C - IntronicSNV - 7/20 1
4-55577857-G-A c.1231+2152G>A - IntronicSNV - 7/20 1
4-55577857-G-T c.1231+2152G>T - IntronicSNV - 7/20 1
4-55577964-G-A c.1231+2259G>A - IntronicSNV - 7/20 1
4-55577964-G-C c.1231+2259G>C - IntronicSNV - 7/20 1
4-55578077-T-A c.1231+2372T>A - IntronicSNV - 7/20 1
4-55578312-T-C c.1231+2607T>C - IntronicSNV - 7/20 1
4-55578330-A-G c.1231+2625A>G - IntronicSNV - 7/20 1
4-55579081-G-A c.1231+3376G>A - IntronicSNV - 7/20 1
4-55579081-G-T c.1231+3376G>T - IntronicSNV - 7/20 1
4-55579185-C-T c.1231+3480C>T - IntronicSNV - 7/20 1
4-55579249-T-A c.1231+3544T>A - IntronicSNV - 7/20 1
4-55579484-T-A c.1231+3779T>A - IntronicSNV - 7/20 1
4-55579501-G-A c.1231+3796G>A - IntronicSNV - 7/20 1
4-55579694-C-A c.1231+3989C>A - IntronicSNV - 7/20 1
4-55579773-T-C c.1231+4068T>C - IntronicSNV - 7/20 1
4-55580596-A-T c.1231+4891A>T - IntronicSNV - 7/20 1
4-55580904-C-T c.1231+5199C>T - IntronicSNV - 7/20 1
4-55581002-C-G c.1231+5297C>G - IntronicSNV - 7/20 1
4-55581002-C-T c.1231+5297C>T - IntronicSNV - 7/20 1
4-55581150-C-T c.1231+5445C>T - IntronicSNV - 7/20 1
4-55581266-A-C c.1231+5561A>C - IntronicSNV - 7/20 1
4-55581751-C-T c.1231+6046C>T - IntronicSNV - 7/20 1
4-55581881-A-G c.1231+6176A>G - IntronicSNV - 7/20 1
4-55582037-C-A c.1231+6332C>A - IntronicSNV - 7/20 1
4-55582037-C-T c.1231+6332C>T - IntronicSNV - 7/20 1
4-55582068-T-A c.1231+6363T>A - IntronicSNV - 7/20 1
4-55582068-T-C c.1231+6363T>C - IntronicSNV - 7/20 1
4-55582247-C-G c.1231+6542C>G - IntronicSNV - 7/20 1
4-55582247-C-T c.1231+6542C>T - IntronicSNV - 7/20 1
4-55582397-C-T c.1231+6692C>T - IntronicSNV - 7/20 1
4-55582683-AT-A c.1231+6987del - IntronicDeletion - 7/20 1
4-55582692-T-A c.1231+6987T>A - IntronicSNV - 7/20 1
4-55583023-A-G c.1232-6727A>G - IntronicSNV - 7/20 1
4-55583315-T-G c.1232-6435T>G - IntronicSNV - 7/20 1
4-55584101-T-A c.1232-5649T>A - IntronicSNV - 7/20 1
4-55584234-G-A c.1232-5516G>A - IntronicSNV - 7/20 1
4-55584433-A-G c.1232-5317A>G - IntronicSNV - 7/20 1
4-55584533-A-G c.1232-5217A>G - IntronicSNV - 7/20 1
4-55585035-C-T c.1232-4715C>T - IntronicSNV - 7/20 1
4-55585186-C-T c.1232-4564C>T - IntronicSNV - 7/20 1
4-55585688-G-A c.1232-4062G>A - IntronicSNV - 7/20 1
4-55585938-C-T c.1232-3812C>T - IntronicSNV - 7/20 1
4-55586568-C-T c.1232-3182C>T - IntronicSNV - 7/20 1
4-55587059-G-A c.1232-2691G>A - IntronicSNV - 7/20 1
4-55587220-A-G c.1232-2530A>G - IntronicSNV - 7/20 1
4-55587258-T-A c.1232-2492T>A - IntronicSNV - 7/20 1
4-55587258-T-G c.1232-2492T>G - IntronicSNV - 7/20 1
4-55587302-G-A c.1232-2448G>A - IntronicSNV - 7/20 1
4-55587623-C-T c.1232-2127C>T - IntronicSNV - 7/20 1
4-55588059-G-A c.1232-1691G>A - IntronicSNV - 7/20 1
4-55588256-A-G c.1232-1494A>G - IntronicSNV - 7/20 1
4-55588278-A-G c.1232-1472A>G - IntronicSNV - 7/20 1
4-55588278-A-T c.1232-1472A>T - IntronicSNV - 7/20 1
4-55588536-A-G c.1232-1214A>G - IntronicSNV - 7/20 1
4-55588708-C-T c.1232-1042C>T - IntronicSNV - 7/20 1
4-55588719-A-C c.1232-1031A>C - IntronicSNV - 7/20 1
4-55589101-T-TTAG c.1232-648_1232-646dup - IntronicInsertion - 7/20 1
4-55589108-G-T c.1232-642G>T - IntronicSNV - 7/20 1
4-55589749-G-A c.1232-1G>A - IntronicSNV - 7/20 1
4-55589750-C-A c.1232C>A p.T411K Missense 8/21 - 1
4-55589750-GCAAAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCATGCTCCAATGTGTGGCA-G c.1232_1290del p.T411Sfs*17 Unclassified 8/21 - 1
4-55589753-A-T c.1235A>T p.K412I Missense 8/21 - 1
4-55589754-A-G c.1236A>G p.K412= Synonymous 8/21 - 1
4-55589755-C-G c.1237C>G p.P413A Missense 8/21 - 1
4-55589755-C-T c.1237C>T p.P413S Missense 8/21 - 3
4-55589756-C-G c.1238C>G p.P413R Missense 8/21 - 1
4-55589758-G-C c.1240G>C p.E414Q Missense 8/21 - 1
4-55589758-G-T c.1240G>T p.E414* Nonsense 8/21 - 1
4-55589759-A-C c.1241A>C p.E414A Missense 8/21 - 1
4-55589760-A-C c.1242A>C p.E414D Missense 8/21 - 1
4-55589760-A-T c.1242A>T p.E414D Missense 8/21 - 1
4-55589758-GA-G c.1243del p.I415Sfs*2 Frameshift 8/21 - 1
4-55589763-C-G c.1245C>G p.I415M Missense 8/21 - 1
4-55589763-C-T c.1245C>T p.I415= Synonymous 8/21 - 1
4-55589764-C-T c.1246C>T p.L416= Synonymous 8/21 - 4
4-55589766-G-A c.1248G>A p.L416= Synonymous 8/21 - 5
4-55589766-GACTTACGACAGGCTCGTGA-ACT c.1248_1267delinsACT p.T417Lfs*25 Frameshift 8/21 - 1
4-55589766-GACTTACGAC-TTGG c.1248_1257delinsTTGG p.T417_D419delinsW MultiAAMissense 8/21 - 1
4-55589766-GACTTACGA-TTTCCG c.1248_1256delinsTTTCCG p.T417_D419delinsFR MultiAAMissense 8/21 - 1
4-55589766-G-C c.1248G>C p.L416= Synonymous 8/21 - 4
4-55589766-G-T c.1248G>T p.L416= Synonymous 8/21 - 4
4-55589766-TGACTTA-T c.1248_1253del p.T417_Y418del InFrameDeletion 8/21 - 3
4-55589766-TGA-T c.1248_1249del p.T417Lfs*30 Frameshift 8/21 - 1
4-55589767-AC-TA c.1249_1250delinsTA p.T417Y Missense 8/21 - 1
4-55589767-ACTTACGACA-GGATGGAACT c.1249_1258delinsGGATGGAACT p.T417_R420delinsGWNW MultiAAMissense 8/21 - 1
4-55589767-ACTTACG-T c.1249_1255delinsT p.T417_D419delinsY MultiAAMissense 8/21 - 1
4-55589767-ACTT-CTTAGGTGGG c.1249_1252delinsCTTAGGTGGG p.T417_Y418delinsLRWD MultiAAMissense 8/21 - 1
4-55589767-GA-G c.1249del p.T417Lfs*6 Frameshift 8/21 - 2
4-55589767-A-T c.1249A>T p.T417S Missense 8/21 - 1
4-55589768-ACTTACG-A c.1250_1255del p.T417_D419delinsN MultiAAMissense 8/21 - 1
4-55589768-C-A c.1250C>A p.T417N Missense 8/21 - 1
4-55589768-C-G c.1250C>G p.T417S Missense 8/21 - 1
4-55589768-C-T c.1250C>T p.T417I Missense 8/21 - 6
4-55589768-CTTACGACA-AACCTC c.1250_1258delinsAACCTC p.T417_D419delinsKP MultiAAMissense 8/21 - 1
4-55589768-CTTACGAC-AGGCT c.1250_1257delinsAGGCT p.T417_D419delinsKA MultiAAMissense 8/21 - 1
4-55589768-CTTACGA-T c.1250_1256delinsT p.T417_D419delinsI MultiAAMissense 8/21 - 1
4-55589765-TGACTTAC-T c.1251_1257del p.Y418Gfs*3 Frameshift 8/21 - 1
4-55589769-CTTA-C c.1251_1253del p.Y418del InFrameDeletion 8/21 - 1
4-55589769-CTTACGACAGGCTCGTG-C c.1251_1266del p.Y418Mfs*16 Frameshift 8/21 - 1
4-55589769-T-A c.1251T>A p.T417= Synonymous 8/21 - 1
4-55589769-T-C c.1251T>C p.T417= Synonymous 8/21 - 1
4-55589769-T-G c.1251T>G p.T417= Synonymous 8/21 - 1
4-55589769-TTACGAC-AACA c.1251_1257delinsAACA p.Y418_D419delinsT MultiAAMissense 8/21 - 1
4-55589769-TTACGACA-CTCCT c.1251_1258delinsCTCCT p.Y418_R420delinsSW MultiAAMissense 8/21 - 1
4-55589769-TTACGA-CCC c.1251_1256delinsCCC p.Y418_D419delinsP MultiAAMissense 8/21 - 1
4-55589769-TTACGA-GGG c.1251_1256delinsGGG p.Y418_D419delinsG MultiAAMissense 8/21 - 1
4-55589768-C-CT c.1252dup p.Y418Lfs*30 Frameshift 8/21 - 1
4-55589770-T-A c.1252T>A p.Y418N Missense 8/21 - 1
4-55589770-TAC-AGCGTATATATCTATATCCAT c.1252_1254delinsAGCGTATATATCTATATCCAT p.Y418delinsSVYIYIH MultiAAMissense 8/21 - 1
4-55589770-T-C c.1252T>C p.Y418H Missense 8/21 - 1
4-55589770-TTACGAC-T c.1252_1257del p.Y418_D419del InFrameDeletion 8/21 - 2
4-55589770-TTAC-T c.1252_1254del p.Y418del InFrameDeletion 8/21 - 3
4-55589771-AC-TTTTTTGG c.1253_1254delinsTTTTTTGG p.Y418delinsFFW MultiAAMissense 8/21 - 1
4-55589771-A-ATTTCTT c.1253_1254insTTTCTT p.Y418_D419insFF InFrameInsertion 8/21 - 1
4-55589771-A-C c.1253A>C p.Y418S Missense 8/21 - 4
4-55589771-ACGACA-CCG c.1253_1258delinsCCG p.Y418_R420delinsSG MultiAAMissense 8/21 - 1
4-55589771-A-G c.1253A>G p.Y418C Missense 8/21 - 1
4-55589771-TA-T c.1253del p.Y418Sfs*5 Frameshift 8/21 - 1
4-55589771-A-ACT c.1254_1255insTC p.D419Sfs*5 Frameshift 8/21 - 1
4-55589771-A-ACTTCCT c.1254_1255insTTCCTC p.Y418_D419insFL InFrameInsertion 8/21 - 2
4-55589772-C-A c.1254C>A p.Y418* Nonsense 8/21 - 3
4-55589772-C-CT c.1254_1255insT p.D419* Nonsense 8/21 - 1
4-55589772-C-CTTTTTT c.1254_1255insTTTTTT p.Y418_D419insFF InFrameInsertion 8/21 - 2
4-55589772-C-G c.1254C>G p.Y418* Nonsense 8/21 - 1
4-55589772-C-T c.1254C>T p.Y418= Synonymous 8/21 - 2
4-55589770-TACG-T c.1255_1257del p.D419del InFrameDeletion 8/21 - 42
4-55589773-CGA-C c.1255_1256del p.D419Qfs*28 Frameshift 8/21 - 1
4-55589773-CGACAGG-C c.1255_1260del p.D419_R420del InFrameDeletion 8/21 - 1
4-55589773-G-A c.1255G>A p.D419N Missense 8/21 - 10
4-55589773-GA-AT c.1255_1256delinsAT p.D419I Missense 8/21 - 1
4-55589773-GAC-AGGGGT c.1255_1257delinsAGGGGT p.D419delinsRG MultiAAMissense 8/21 - 3
4-55589773-GA-TG c.1255_1256delinsTG p.D419C Missense 8/21 - 1
4-55589773-GA-TT c.1255_1256delinsTT p.D419F Missense 8/21 - 1
4-55589773-G-C c.1255G>C p.D419H Missense 8/21 - 6
4-55589773-G-T c.1255G>T p.D419Y Missense 8/21 - 4
4-55589774-AC-CAGGT c.1256_1257delinsCAGGT p.D419delinsAG MultiAAMissense 8/21 - 1
4-55589774-A-C c.1256A>C p.D419A Missense 8/21 - 6
4-55589774-AC-GTCTA c.1256_1257delinsGTCTA p.D419delinsGL MultiAAMissense 8/21 - 1
4-55589774-A-G c.1256A>G p.D419G Missense 8/21 - 2
4-55589774-A-T c.1256A>T p.D419V Missense 8/21 - 2
4-55589774-A-ACTTCCT c.1257_1258insTTCCTC p.D419_R420insFL InFrameInsertion 8/21 - 1
4-55589774-A-ACTTTTT c.1257_1258insTTTTTC p.D419_R420insFF InFrameInsertion 8/21 - 1
4-55589775-C-A c.1257C>A p.D419E Missense 8/21 - 1
4-55589775-C-G c.1257C>G p.D419E Missense 8/21 - 1
4-55589775-C-T c.1257C>T p.D419= Synonymous 8/21 - 1
4-55589776-A-G c.1258A>G p.R420G Missense 8/21 - 1
4-55589776-AG-CA c.1258_1259delinsCA p.R420Q Missense 8/21 - 2
4-55589776-AG-CT c.1258_1259inv p.R420L Missense 8/21 - 1
4-55589776-AG-GA c.1258_1259delinsGA p.R420E Missense 8/21 - 1
4-55589776-A-GGTT c.1258delinsGGTT p.R420delinsGW MultiAAMissense 8/21 - 1
4-55589776-AG-TGGAGCAA c.1258_1259delinsTGGAGCAA p.R420delinsWSK MultiAAMissense 8/21 - 1
4-55589776-A-T c.1258A>T p.R420W Missense 8/21 - 1
4-55589776-CAGG-C c.1258_1260del p.R420del InFrameDeletion 8/21 - 1
4-55589777-G-A c.1259G>A p.R420K Missense 8/21 - 1
4-55589777-G-T c.1259G>T p.R420M Missense 8/21 - 2
4-55589776-AG-A c.1260del p.R420Sfs*3 Frameshift 8/21 - 1
4-55589778-G-C c.1260G>C p.R420S Missense 8/21 - 1
4-55589779-CTC-ACAAGGGTATAT c.1261_1263delinsACAAGGGTATAT p.L421delinsTRVY MultiAAMissense 8/21 - 1
4-55589779-GCTC-G c.1261_1263del p.L421del InFrameDeletion 8/21 - 1
4-55589778-G-GCTCCTC c.1263_1264insCTCCTC p.L421_V422insLL InFrameInsertion 8/21 - 1
4-55589779-C-CTCG c.1263_1265dup p.V422dup InFrameInsertion 8/21 - 1
4-55589780-T-TC c.1263dup p.V422Rfs*26 Frameshift 8/21 - 1
4-55589781-C-A c.1263C>A p.L421= Synonymous 8/21 - 1
4-55589781-C-G c.1263C>G p.L421= Synonymous 8/21 - 1
4-55589781-C-T c.1263C>T p.L421= Synonymous 8/21 - 1
4-55589782-G-A c.1264G>A p.V422M Missense 8/21 - 3
4-55589782-G-C c.1264G>C p.V422L Missense 8/21 - 1
4-55589782-G-T c.1264G>T p.V422L Missense 8/21 - 1
4-55589782-GTG-AGCAGGATCCTT c.1264_1266delinsAGCAGGATCCTT p.V422delinsSRIL MultiAAMissense 8/21 - 1
4-55589782-GTG-ATC c.1264_1266delinsATC p.V422I Missense 8/21 - 1
4-55589788-GG-AC c.1270_1271delinsAC p.G424T Missense 8/21 - 1
4-55589789-G-A c.1271G>A p.G424D Missense 8/21 - 2
4-55589791-A-G c.1273A>G p.M425V Missense 8/21 - 1
4-55589791-AT-GC c.1273_1274delinsGC p.M425A Missense 8/21 - 1
4-55589792-T-A c.1274T>A p.M425K Missense 8/21 - 1
4-55589794-C-A c.1276C>A p.L426I Missense 8/21 - 1
4-55589794-C-G c.1276C>G p.L426V Missense 8/21 - 1
4-55589794-C-T c.1276C>T p.L426F Missense 8/21 - 1
4-55589793-GCTC-G c.1277_1279del p.L426del InFrameDeletion 8/21 - 1
4-55589795-T-C c.1277T>C p.L426P Missense 8/21 - 1
4-55589796-C-A c.1278C>A p.L426= Synonymous 8/21 - 1
4-55589796-C-G c.1278C>G p.L426= Synonymous 8/21 - 1
4-55589796-C-T c.1278C>T p.L426= Synonymous 8/21 - 1
4-55589797-C-A c.1279C>A p.Q427K Missense 8/21 - 1
4-55589797-C-T c.1279C>T p.Q427* Nonsense 8/21 - 2
4-55589798-A-G c.1280A>G p.Q427R Missense 8/21 - 1
4-55589797-C-CA c.1281dup p.C428Mfs*20 Frameshift 8/21 - 1
4-55589799-A-C c.1281A>C p.Q427H Missense 8/21 - 2
4-55589799-A-T c.1281A>T p.Q427H Missense 8/21 - 1
4-55589800-T-A c.1282T>A p.C428S Missense 8/21 - 1
4-55589802-T-G c.1284T>G p.C428W Missense 8/21 - 1
4-55589803-GTG-TTT c.1285_1287delinsTTT p.V429F Missense 8/21 - 1
4-55589806-G-A c.1288G>A p.A430T Missense 8/21 - 4
4-55589807-C-G c.1289C>G p.A430G Missense 8/21 - 1
4-55589807-GC-G c.1289del p.A430Efs*9 Frameshift 8/21 - 1
4-55589808-A-G c.1290A>G p.A430= Synonymous 8/21 - 1
4-55589809-G-A c.1291G>A p.A431T Missense 8/21 - 1
4-55589810-C-A c.1292C>A p.A431E Missense 8/21 - 1
4-55589810-C-T c.1292C>T p.A431V Missense 8/21 - 1
4-55589812-G-C c.1294G>C p.G432R Missense 8/21 - 1
4-55589813-G-A c.1295G>A p.G432E Missense 8/21 - 12
4-55589815-T-C c.1297T>C p.F433L Missense 8/21 - 4
4-55589817-C-A c.1299C>A p.F433L Missense 8/21 - 4
4-55589817-C-G c.1299C>G p.F433L Missense 8/21 - 4
4-55589817-C-T c.1299C>T p.F433= Synonymous 8/21 - 1
4-55589818-C-T c.1300C>T p.P434S Missense 8/21 - 2
4-55589816-T-TC c.1301dup p.E435Rfs*13 Frameshift 8/21 - 1
4-55589819-C-G c.1301C>G p.P434R Missense 8/21 - 1
4-55589819-C-T c.1301C>T p.P434L Missense 8/21 - 1
4-55589820-A-AT c.1302_1303insT p.E435* Nonsense 8/21 - 1
4-55589821-G-A c.1303G>A p.E435K Missense 8/21 - 4
4-55589825-C-G c.1307C>G p.P436R Missense 8/21 - 1
4-55589823-GC-G c.1308del p.T437Qfs*2 Frameshift 8/21 - 1
4-55589827-A-G c.1309A>G p.T437A Missense 8/21 - 1
4-55589827-A-T c.1309A>T p.T437S Missense 8/21 - 1
4-55589828-C-A c.1310C>A p.T437K Missense 8/21 - 2
4-55589830-A-C c.1312A>C p.I438L Missense 8/21 - 6
4-55589830-A-G c.1312A>G p.I438V Missense 8/21 - 1
4-55589830-A-T c.1312A>T p.I438L Missense 8/21 - 5
4-55589832-A-G c.1314A>G p.I438M Missense 8/21 - 1
4-55589833-G-A c.1315G>A p.D439N Missense 8/21 - 1
4-55589833-G-C c.1315G>C p.D439H Missense 8/21 - 8
4-55589836-T-G c.1318T>G p.W440G Missense 8/21 - 1
4-55589837-G-A c.1319G>A p.W440* Nonsense 8/21 - 6
4-55589837-G-T c.1319G>T p.W440L Missense 8/21 - 1
4-55589838-G-A c.1320G>A p.W440* Nonsense 8/21 - 8
4-55589839-T-TA c.1322dup p.Y441* Nonsense 8/21 - 1
4-55589840-A-G c.1322A>G p.Y441C Missense 8/21 - 1
4-55589842-T-A c.1324T>A p.F442I Missense 8/21 - 2
4-55589842-TT-GC c.1324_1325delinsGC p.F442A Missense 8/21 - 5
4-55589840-AT-A c.1327del p.C443Vfs*20 Frameshift 8/21 - 1
4-55589845-T-A c.1327T>A p.C443S Missense 8/21 - 2
4-55589846-G-C c.1328G>C p.C443S Missense 8/21 - 2
4-55589846-G-A c.1328G>A p.C443Y Missense 8/21 - 11
4-55589848-C-A c.1330C>A p.P444T Missense 8/21 - 1
4-55589848-C-G c.1330C>G p.P444A Missense 8/21 - 1
4-55589848-C-T c.1330C>T p.P444S Missense 8/21 - 1
4-55589852-G-A c.1334G>A p.G445E Missense 8/21 - 4
4-55589852-G-T c.1334G>T p.G445V Missense 8/21 - 2
4-55589854-A-G c.1336A>G p.T446A Missense 8/21 - 2
4-55589855-C-A c.1337C>A p.T446N Missense 8/21 - 1
4-55589857-G-A c.1339G>A p.E447K Missense 8/21 - 3
4-55589857-G-T c.1339G>T p.E447* Nonsense 8/21 - 1
4-55589860-C-G c.1342C>G p.Q448E Missense 8/21 - 2
4-55589861-A-G c.1343A>G p.Q448R Missense 8/21 - 2
4-55589862-G-C c.1344G>C p.Q448H Missense 8/21 - 1
4-55589863-A-AT c.1345_1346insT p.R449Mfs*33 SpliceDonorInsertion 8/21 - 1
4-55589864-G-GATGCTCTGCTTCTGTACTGCCA c.1346_1346+1insATGCTCTGCTTCTGTACTGCCA p.V457Mfs*32 SpliceDonorInsertion - - 1
4-55589977-G-GT c.1346+121dup - IntronicInsertion - 8/20 1
4-55590021-T-A c.1346+157T>A - IntronicSNV - 8/20 1
4-55590061-C-G c.1346+197C>G - IntronicSNV - 8/20 1
4-55590109-A-G c.1346+245A>G - IntronicSNV - 8/20 1
4-55590145-T-C c.1346+281T>C - IntronicSNV - 8/20 1
4-55590146-G-C c.1346+282G>C - IntronicSNV - 8/20 1
4-55590621-G-T c.1346+757G>T - IntronicSNV - 8/20 1
4-55590730-T-A c.1346+866T>A - IntronicSNV - 8/20 1
4-55590862-A-G c.1346+998A>G - IntronicSNV - 8/20 1
4-55591307-C-G c.1347-716C>G - IntronicSNV - 8/20 1
4-55591307-C-T c.1347-716C>T - IntronicSNV - 8/20 1
4-55591606-A-G c.1347-417A>G - IntronicSNV - 8/20 1
4-55591624-G-A c.1347-399G>A - IntronicSNV - 8/20 1
4-55591771-G-C c.1347-252G>C - IntronicSNV - 8/20 1
4-55591816-C-T c.1347-207C>T - IntronicSNV - 8/20 1
4-55592024-T-C c.1348T>C p.C450R Missense 9/21 - 1
4-55592025-G-T c.1349G>T p.C450F Missense 9/21 - 1
4-55592026-C-T c.1350C>T p.C450= Synonymous 9/21 - 1
4-55592027-T-C c.1351T>C p.S451P Missense 9/21 - 3
4-55592028-C-G c.1352C>G p.S451C Missense 9/21 - 18
4-55592028-C-T c.1352C>T p.S451F Missense 9/21 - 1
4-55592030-G-A c.1354G>A p.A452T Missense 9/21 - 1
4-55592030-G-T c.1354G>T p.A452S Missense 9/21 - 2
4-55592031-C-T c.1355C>T p.A452V Missense 9/21 - 2
4-55592034-C-G c.1358C>G p.S453C Missense 9/21 - 1
4-55592034-C-T c.1358C>T p.S453F Missense 9/21 - 1
4-55592039-C-A c.1363C>A p.L455M Missense 9/21 - 1
4-55592039-C-G c.1363C>G p.L455V Missense 9/21 - 1
4-55592039-CT-AA c.1363_1364delinsAA p.L455K Missense 9/21 - 1
4-55592039-CT-AC c.1363_1364delinsAC p.L455T Missense 9/21 - 1
4-55592039-CTG-ATC c.1363_1365delinsATC p.L455I Missense 9/21 - 1
4-55592039-CTG-GAC c.1363_1365delinsGAC p.L455D Missense 9/21 - 1
4-55592039-CTG-TTT c.1363_1365delinsTTT p.L455F Missense 9/21 - 1
4-55592039-CT-TC c.1363_1364delinsTC p.L455S Missense 9/21 - 1
4-55592039-CT-TG c.1363_1364delinsTG p.L455W Missense 9/21 - 1
4-55592040-T-G c.1364T>G p.L455R Missense 9/21 - 1
4-55592042-C-T c.1366C>T p.P456S Missense 9/21 - 5
4-55592043-C-A c.1367C>A p.P456Q Missense 9/21 - 1
4-55592043-C-T c.1367C>T p.P456L Missense 9/21 - 2
4-55592045-G-A c.1369G>A p.V457M Missense 9/21 - 1
4-55592045-G-T c.1369G>T p.V457L Missense 9/21 - 1
4-55592048-G-A c.1372G>A p.D458N Missense 9/21 - 3
4-55592048-G-C c.1372G>C p.D458H Missense 9/21 - 3
4-55592049-A-T c.1373A>T p.D458V Missense 9/21 - 1
4-55592051-G-A c.1375G>A p.V459M Missense 9/21 - 1
4-55592051-GTG-ATC c.1375_1377delinsATC p.V459I Missense 9/21 - 1
4-55592052-T-C c.1376T>C p.V459A Missense 9/21 - 1
4-55592052-T-G c.1376T>G p.V459G Missense 9/21 - 1
4-55592054-C-A c.1378C>A p.Q460K Missense 9/21 - 1
4-55592055-A-T c.1379A>T p.Q460L Missense 9/21 - 1
4-55592058-CA-TG c.1382_1383inv p.T461M Missense 9/21 - 1
4-55592058-C-T c.1382C>T p.T461I Missense 9/21 - 1
4-55592059-A-C c.1383A>C p.T461= Synonymous 9/21 - 1
4-55592059-A-G c.1383A>G p.T461= Synonymous 9/21 - 5
4-55592059-A-T c.1383A>T p.T461= Synonymous 9/21 - 1
4-55592060-C-G c.1384C>G p.L462V Missense 9/21 - 1
4-55592064-A-G c.1388A>G p.N463S Missense 9/21 - 5
4-55592065-C-G c.1389C>G p.N463K Missense 9/21 - 1
4-55592065-C-T c.1389C>T p.N463= Synonymous 9/21 - 1
4-55592067-C-A c.1391C>A p.S464* Nonsense 9/21 - 2
4-55592067-C-G c.1391C>G p.S464* Nonsense 9/21 - 2
4-55592067-C-T c.1391C>T p.S464L Missense 9/21 - 8
4-55592069-TC-AA c.1393_1394delinsAA p.S465N Missense 9/21 - 1
4-55592069-TC-CG c.1393_1394delinsCG p.S465R Missense 9/21 - 1
4-55592070-C-A c.1394C>A p.S465Y Missense 9/21 - 1
4-55592070-C-G c.1394C>G p.S465C Missense 9/21 - 1
4-55592072-G-A c.1396G>A p.G466R Missense 9/21 - 2
4-55592072-G-C c.1396G>C p.G466R Missense 9/21 - 2
4-55592073-G-A c.1397G>A p.G466E Missense 9/21 - 4
4-55592073-G-C c.1397G>C p.G466A Missense 9/21 - 3
4-55592073-G-T c.1397G>T p.G466V Missense 9/21 - 3
4-55592074-G-A c.1398G>A p.G466= Synonymous 9/21 - 1
4-55592074-G-C c.1398G>C p.G466= Synonymous 9/21 - 1
4-55592074-G-T c.1398G>T p.G466= Synonymous 9/21 - 1
4-55592075-C-A c.1399C>A p.P467T Missense 9/21 - 1
4-55592075-C-G c.1399C>G p.P467A Missense 9/21 - 1
4-55592075-C-T c.1399C>T p.P467S Missense 9/21 - 3
4-55592076-C-A c.1400C>A p.P467Q Missense 9/21 - 2
4-55592076-C-T c.1400C>T p.P467L Missense 9/21 - 2
4-55592078-C-A c.1402C>A p.P468T Missense 9/21 - 1
4-55592078-C-T c.1402C>T p.P468S Missense 9/21 - 1
4-55592079-C-T c.1403C>T p.P468L Missense 9/21 - 7
4-55592080-G-A c.1404G>A p.P468= Synonymous 9/21 - 4
4-55592080-G-C c.1404G>C p.P468= Synonymous 9/21 - 2
4-55592080-G-T c.1404G>T p.P468= Synonymous 9/21 - 2
4-55592081-T-C c.1405T>C p.F469L Missense 9/21 - 5
4-55592081-TT-GC c.1405_1406delinsGC p.F469A Missense 9/21 - 1
4-55592083-T-A c.1407T>A p.F469L Missense 9/21 - 4
4-55592083-T-G c.1407T>G p.F469L Missense 9/21 - 4
4-55592082-T-C c.1406T>C p.F469S Missense 9/21 - 2
4-55592084-G-A c.1408G>A p.G470R Missense 9/21 - 1
4-55592084-G-T c.1408G>T p.G470* Nonsense 9/21 - 1
4-55592085-G-A c.1409G>A p.G470E Missense 9/21 - 4
4-55592085-G-C c.1409G>C p.G470A Missense 9/21 - 1
4-55592087-A-C c.1411A>C p.K471Q Missense 9/21 - 1
4-55592088-A-T c.1412A>T p.K471M Missense 9/21 - 2
4-55592089-G-T c.1413G>T p.K471N Missense 9/21 - 1
4-55592092-A-G c.1416A>G p.L472= Synonymous 9/21 - 1
4-55592092-A-T c.1416A>T p.L472= Synonymous 9/21 - 3
4-55592093-G-A c.1417G>A p.V473M Missense 9/21 - 2
4-55592094-TG-T c.1420del p.V474Ffs*5 Frameshift 9/21 - 1
4-55592096-G-A c.1420G>A p.V474I Missense 9/21 - 2
4-55592096-GTT-ATG c.1420_1422delinsATG p.V474M Missense 9/21 - 1
4-55592097-T-C c.1421T>C p.V474A Missense 9/21 - 3
4-55592102-A-G c.1426A>G p.S476G Missense 9/21 - 1
4-55592102-AG-TT c.1426_1427delinsTT p.S476F Missense 9/21 - 1
4-55592102-A-T c.1426A>T p.S476C Missense 9/21 - 2
4-55592103-G-A c.1427G>A p.S476N Missense 9/21 - 2
4-55592103-G-C c.1427G>C p.S476T Missense 9/21 - 1
4-55592103-G-T c.1427G>T p.S476I Missense 9/21 - 29
4-55592105-TC-AA c.1429_1430delinsAA p.S477N Missense 9/21 - 2
4-55592106-C-G c.1430C>G p.S477C Missense 9/21 - 1
4-55592106-C-T c.1430C>T p.S477F Missense 9/21 - 2
4-55592106-CT-AA c.1430_1431delinsAA p.S477* Nonsense 9/21 - 1
4-55592111-G-C c.1435G>C p.D479H Missense 9/21 - 5
4-55592115-C-T c.1439C>T p.S480F Missense 9/21 - 3
4-55592117-AG-TT c.1441_1442delinsTT p.S481F Missense 9/21 - 1
4-55592118-G-C c.1442G>C p.S481T Missense 9/21 - 1
4-55592120-G-A c.1444G>A p.A482T Missense 9/21 - 9
4-55592120-G-T c.1444G>T p.A482S Missense 9/21 - 1
4-55592121-C-T c.1445C>T p.A482V Missense 9/21 - 2
4-55592123-T-C c.1447T>C p.F483L Missense 9/21 - 1
4-55592125-C-A c.1449C>A p.F483L Missense 9/21 - 1
4-55592125-C-G c.1449C>G p.F483L Missense 9/21 - 3
4-55592126-A-G c.1450A>G p.K484E Missense 9/21 - 1
4-55592127-A-G c.1451A>G p.K484R Missense 9/21 - 2
4-55592128-G-C c.1452G>C p.K484N Missense 9/21 - 1
4-55592128-G-T c.1452G>T p.K484N Missense 9/21 - 1
4-55592131-C-T c.1455C>T p.H485= Synonymous 9/21 - 1
4-55592132-A-G c.1456A>G p.N486D Missense 9/21 - 3
4-55592133-A-C c.1457A>C p.N486T Missense 9/21 - 2
4-55592133-A-G c.1457A>G p.N486S Missense 9/21 - 1
4-55592133-A-T c.1457A>T p.N486I Missense 9/21 - 7
4-55592135-G-T c.1459G>T p.G487C Missense 9/21 - 1
4-55592136-G-A c.1460G>A p.G487D Missense 9/21 - 9
4-55592136-GC-AG c.1460_1461delinsAG p.G487E Missense 9/21 - 1
4-55592136-G-T c.1460G>T p.G487V Missense 9/21 - 1
4-55592138-A-G c.1462A>G p.T488A Missense 9/21 - 1
4-55592139-C-A c.1463C>A p.T488K Missense 9/21 - 1
4-55592139-C-T c.1463C>T p.T488M Missense 9/21 - 6
4-55592140-G-A c.1464G>A p.T488= Synonymous 9/21 - 3
4-55592140-G-C c.1464G>C p.T488= Synonymous 9/21 - 2
4-55592140-G-T c.1464G>T p.T488= Synonymous 9/21 - 4
4-55592141-G-A c.1465G>A p.V489I Missense 9/21 - 1
4-55592142-T-A c.1466T>A p.V489D Missense 9/21 - 1
4-55592142-T-C c.1466T>C p.V489A Missense 9/21 - 2
4-55592142-T-G c.1466T>G p.V489G Missense 9/21 - 1
4-55592141-GTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATT-G c.1468_1512del p.E490_F504del InFrameDeletion 9/21 - 1
4-55592144-G-A c.1468G>A p.E490K Missense 9/21 - 6
4-55592144-GA-TC c.1468_1469inv p.E490S Missense 9/21 - 1
4-55592144-G-C c.1468G>C p.E490Q Missense 9/21 - 2
4-55592144-G-T c.1468G>T p.E490* Nonsense 9/21 - 2
4-55592145-A-C c.1469A>C p.E490A Missense 9/21 - 1
4-55592145-A-G c.1469A>G p.E490G Missense 9/21 - 2
4-55592145-A-T c.1469A>T p.E490V Missense 9/21 - 1
4-55592146-A-C c.1470A>C p.E490D Missense 9/21 - 5
4-55592146-A-T c.1470A>T p.E490D Missense 9/21 - 6
4-55592148-G-T c.1472G>T p.C491F Missense 9/21 - 1
4-55592150-A-G c.1474A>G p.K492E Missense 9/21 - 1
4-55592150-A-T c.1474A>T p.K492* Nonsense 9/21 - 1
4-55592151-A-G c.1475A>G p.K492R Missense 9/21 - 3
4-55592152-G-T c.1476G>T p.K492N Missense 9/21 - 1
4-55592153-G-A c.1477G>A p.A493T Missense 9/21 - 2
4-55592153-G-T c.1477G>T p.A493S Missense 9/21 - 1
4-55592154-C-A c.1478C>A p.A493D Missense 9/21 - 1
4-55592154-C-T c.1478C>T p.A493V Missense 9/21 - 1
4-55592156-T-TA c.1481dup p.Y494* Nonsense 9/21 - 1
4-55592157-A-C c.1481A>C p.Y494S Missense 9/21 - 1
4-55592157-A-G c.1481A>G p.Y494C Missense 9/21 - 5
4-55592157-A-T c.1481A>T p.Y494F Missense 9/21 - 1
4-55592158-C-A c.1482C>A p.Y494* Nonsense 9/21 - 1
4-55592158-C-G c.1482C>G p.Y494* Nonsense 9/21 - 1
4-55592159-A-G c.1483A>G p.N495D Missense 9/21 - 1
4-55592159-A-T c.1483A>T p.N495Y Missense 9/21 - 1
4-55592160-A-G c.1484A>G p.N495S Missense 9/21 - 2
4-55592160-A-T c.1484A>T p.N495I Missense 9/21 - 3
4-55592161-C-A c.1485C>A p.N495K Missense 9/21 - 1
4-55592161-C-G c.1485C>G p.N495K Missense 9/21 - 1
4-55592161-C-T c.1485C>T p.N495= Synonymous 9/21 - 1
4-55592162-G-A c.1486G>A p.D496N Missense 9/21 - 9
4-55592162-GAT-AAG c.1486_1488delinsAAG p.D496K Missense 9/21 - 1
4-55592163-A-C c.1487A>C p.D496A Missense 9/21 - 1
4-55592163-A-T c.1487A>T p.D496V Missense 9/21 - 3
4-55592165-G-C c.1489G>C p.V497L Missense 9/21 - 2
4-55592165-G-T c.1489G>T p.V497L Missense 9/21 - 2
4-55592166-T-C c.1490T>C p.V497A Missense 9/21 - 1
4-55592168-G-A c.1492G>A p.G498S Missense 9/21 - 2
4-55592168-G-C c.1492G>C p.G498R Missense 9/21 - 1
4-55592168-G-T c.1492G>T p.G498C Missense 9/21 - 1
4-55592169-G-A c.1493G>A p.G498D Missense 9/21 - 5
4-55592169-G-T c.1493G>T p.G498V Missense 9/21 - 1
4-55592170-C-A c.1494C>A p.G498= Synonymous 9/21 - 2
4-55592170-C-G c.1494C>G p.G498= Synonymous 9/21 - 1
4-55592170-C-T c.1494C>T p.G498= Synonymous 9/21 - 1
4-55592171-A-T c.1495A>T p.K499* Nonsense 9/21 - 1
4-55592172-A-G c.1496A>G p.K499R Missense 9/21 - 1
4-55592173-G-C c.1497G>C p.K499N Missense 9/21 - 1
4-55592173-G-T c.1497G>T p.K499N Missense 9/21 - 1
4-55592174-AC-GA c.1498_1499delinsGA p.T500D Missense 9/21 - 1
4-55592174-ACT-TGG c.1498_1500delinsTGG p.T500W Missense 9/21 - 1
4-55592174-A-G c.1498A>G p.T500A Missense 9/21 - 2
4-55592174-A-T c.1498A>T p.T500S Missense 9/21 - 3
4-55592175-C-G c.1499C>G p.T500S Missense 9/21 - 2
4-55592175-C-T c.1499C>T p.T500I Missense 9/21 - 2
4-55592175-CT-AG c.1499_1500inv p.T500K Missense 9/21 - 1
4-55592176-T-A c.1500T>A p.T500= Synonymous 9/21 - 1
4-55592176-T-C c.1500T>C p.T500= Synonymous 9/21 - 1
4-55592176-T-G c.1500T>G p.T500= Synonymous 9/21 - 1
4-55592176-T-TAGCGCA c.1500_1501insAGCGCA p.S501_A502dup InFrameInsertion 9/21 - 1
4-55592174-ACTT-A c.1501_1503del p.S501del InFrameDeletion 9/21 - 1
4-55592178-C-A c.1502C>A p.S501Y Missense 9/21 - 1
4-55592178-C-T c.1502C>T p.S501F Missense 9/21 - 1
4-55592179-T-A c.1503T>A p.S501= Synonymous 9/21 - 1
4-55592179-T-C c.1503T>C p.S501= Synonymous 9/21 - 1
4-55592179-T-G c.1503T>G p.S501= Synonymous 9/21 - 1
4-55592180-G-A c.1504G>A p.A502T Missense 9/21 - 2
4-55592180-GC-TA c.1504_1505delinsTA p.A502Y Missense 9/21 - 1
4-55592180-G-GGCCTAT c.1504_1505insGCCTAT p.A502delinsGLS MultiAAMissense 9/21 - 1
4-55592178-C-CTGCATA c.1505_1506insATATGC p.A502_Y503dup InFrameInsertion 9/21 - 3
4-55592181-C-A c.1505C>A p.A502D Missense 9/21 - 1
4-55592181-C-T c.1505C>T p.A502V Missense 9/21 - 2
4-55592182-C-A c.1506C>A p.A502= Synonymous 9/21 - 2
4-55592182-C-CAGCGCA c.1506_1507insAGCGCA p.S501_A502dup InFrameInsertion 9/21 - 1
4-55592182-C-CCTTGCA c.1506_1507insCTTGCA p.A502_Y503insLA InFrameInsertion 9/21 - 1
4-55592182-C-G c.1506C>G p.A502= Synonymous 9/21 - 1
4-55592182-C-T c.1506C>T p.A502= Synonymous 9/21 - 1
4-55592178-C-CTGCCTT c.1507_1508insTTGCCT p.A502_Y503insFA InFrameInsertion 9/21 - 5
4-55592182-C-CTTTGCA c.1507_1508insTTGCAT p.A502_Y503insFA InFrameInsertion 9/21 - 1
4-55592183-TA-GC c.1507_1508delinsGC p.Y503A Missense 9/21 - 1
4-55592183-T-C c.1507T>C p.Y503H Missense 9/21 - 2
4-55592182-CTAT-C c.1508_1510del p.Y503del InFrameDeletion 9/21 - 2
4-55592180-G-GCCTATA c.1509_1510insACCTAT p.Y503_F504insTY InFrameInsertion 9/21 - 1
4-55592182-C-CTATACA c.1509_1510insACATAT p.Y503_F504insTY InFrameInsertion 9/21 - 1
4-55592182-C-CTATGCA c.1509_1510insGCATAT p.A502_Y503dup InFrameInsertion 9/21 - 23
4-55592185-T-A c.1509T>A p.Y503* Nonsense 9/21 - 1
4-55592185-T-G c.1509T>G p.Y503* Nonsense 9/21 - 1
4-55592185-T-TAGCGCA c.1509_1510insAGCGCA p.Y503_F504insSA InFrameInsertion 9/21 - 1
4-55592185-T-TGCC c.1509_1510insGCC p.Y503_F504insA InFrameInsertion 9/21 - 1
4-55592185-T-TTATGCA c.1510_1511insATGCAT p.Y503_F504insYA InFrameInsertion 9/21 - 1
4-55592185-T-TTGCCTA c.1510_1511insGCCTAT p.Y503_F504insCL InFrameInsertion 9/21 - 1
4-55592186-T-A c.1510T>A p.F504I Missense 9/21 - 1
4-55592186-T-C c.1510T>C p.F504L Missense 9/21 - 4
4-55592186-TT-GC c.1510_1511delinsGC p.F504A Missense 9/21 - 1
4-55592188-T-A c.1512T>A p.F504L Missense 9/21 - 3
4-55592188-T-G c.1512T>G p.F504L Missense 9/21 - 3
4-55592187-T-C c.1511T>C p.F504S Missense 9/21 - 1
4-55592187-TTAAC-T c.1513_1516del p.N505Lfs*21 Frameshift 9/21 - 1
4-55592189-AAC-CTTAAGTTTAAGACA c.1513_1515delinsCTTAAGTTTAAGACA p.N505delinsLKFKT MultiAAMissense 9/21 - 1
4-55592189-AA-GT c.1513_1514delinsGT p.N505V Missense 9/21 - 1
4-55592189-A-C c.1513A>C p.N505H Missense 9/21 - 2
4-55592189-A-G c.1513A>G p.N505D Missense 9/21 - 3
4-55592189-TAAC-T c.1513_1515del p.N505del InFrameDeletion 9/21 - 1
4-55592190-AC-GG c.1514_1515delinsGG p.N505R Missense 9/21 - 1
4-55592190-A-T c.1514A>T p.N505I Missense 9/21 - 13
4-55592191-C-A c.1515C>A p.N505K Missense 9/21 - 1
4-55592191-C-G c.1515C>G p.N505K Missense 9/21 - 1
4-55592191-C-T c.1515C>T p.N505= Synonymous 9/21 - 1
4-55592192-T-C c.1516T>C p.F506L Missense 9/21 - 7
4-55592194-T-A c.1518T>A p.F506L Missense 9/21 - 4
4-55592194-T-G c.1518T>G p.F506L Missense 9/21 - 4
4-55592193-T-C c.1517T>C p.F506S Missense 9/21 - 1
4-55592195-G-A c.1519G>A p.A507T Missense 9/21 - 1
4-55592195-G-C c.1519G>C p.A507P Missense 9/21 - 3
4-55592196-C-T c.1520C>T p.A507V Missense 9/21 - 2
4-55592197-A-C c.1521A>C p.A507= Synonymous 9/21 - 1
4-55592197-A-G c.1521A>G p.A507= Synonymous 9/21 - 1
4-55592197-A-T c.1521A>T p.A507= Synonymous 9/21 - 2
4-55592198-ATTT-A c.1522_1524del p.F508del InFrameDeletion 9/21 - 3
4-55592198-T-C c.1522T>C p.F508L Missense 9/21 - 2
4-55592200-T-C c.1524T>C p.F508= Synonymous 9/21 - 1
4-55592201-A-C c.1525A>C p.K509Q Missense 9/21 - 3
4-55592202-A-G c.1526A>G p.K509R Missense 9/21 - 2
4-55592202-A-T c.1526A>T p.K509I Missense 9/21 - 64
4-55592203-A-C c.1527A>C p.K509N Missense 9/21 - 1
4-55592203-A-T c.1527A>T p.K509N Missense 9/21 - 2
4-55592204-AGGT-A c.1528_1530del p.G510del InFrameDeletion 9/21 - 1
4-55592204-G-A c.1528G>A p.G510S Missense 9/21 - 1
4-55592204-G-T c.1528G>T p.G510C Missense 9/21 - 3
4-55592205-G-C c.1529G>C p.G510A Missense 9/21 - 2
4-55592206-T-C c.1530T>C p.G510= Synonymous 9/21 - 1
4-55592207-A-G c.1531A>G p.N511D Missense 9/21 - 1
4-55592208-A-G c.1532A>G p.N511S Missense 9/21 - 1
4-55592208-A-T c.1532A>T p.N511I Missense 9/21 - 1
4-55592209-C-A c.1533C>A p.N511K Missense 9/21 - 2
4-55592210-A-C c.1534A>C p.N512H Missense 9/21 - 1
4-55592210-A-G c.1534A>G p.N512D Missense 9/21 - 3
4-55592210-A-T c.1534A>T p.N512Y Missense 9/21 - 1
4-55592211-A-G c.1535A>G p.N512S Missense 9/21 - 4
4-55592206-TAAC-T c.1536_1538del p.N512del InFrameDeletion 9/21 - 1
4-55592212-C-A c.1536C>A p.N512K Missense 9/21 - 1
4-55592212-C-G c.1536C>G p.N512K Missense 9/21 - 1
4-55592213-AA-GC c.1537_1538delinsGC p.K513A Missense 9/21 - 1
4-55592216-G-A c.1540G>A p.E514K Missense 9/21 - 1
4-55592216-G-C c.1540G>C p.E514Q Missense 9/21 - 1
4-55592216-G-T c.1540G>T p.E514* Nonsense 9/21 - 2
4-55592224-T-A c.1540+8T>A - IntronicSNV - 9/20 1
4-55592224-T-C c.1540+8T>C - IntronicSNV - 9/20 1
4-55592234-C-A c.1540+18C>A - IntronicSNV - 9/20 1
4-55592298-A-G c.1540+82A>G - IntronicSNV - 9/20 1
4-55592325-T-C c.1540+109T>C - IntronicSNV - 9/20 3
4-55592927-G-A c.1541-457G>A - IntronicSNV - 9/20 1
4-55593384-A-AC c.1541_1542insC p.E514Dfs*41 SpliceAcceptorInsertion 10/21 - 1
4-55593386-C-A c.1543C>A p.Q515K Missense 10/21 - 1
4-55593386-C-T c.1543C>T p.Q515* Nonsense 10/21 - 2
4-55593386-CA-C c.1546del p.I516Sfs*11 Frameshift 10/21 - 1
4-55593389-A-AC c.1546_1547insC p.I516Tfs*39 Frameshift 10/21 - 1
4-55593390-T-C c.1547T>C p.I516T Missense 10/21 - 1
4-55593391-C-T c.1548C>T p.I516= Synonymous 10/21 - 1
4-55593392-C-T c.1549C>T p.H517Y Missense 10/21 - 2
4-55593393-A-AC c.1550_1551insC p.P518Sfs*37 Frameshift 10/21 - 1
4-55593395-C-T c.1552C>T p.P518S Missense 10/21 - 2
4-55593396-C-T c.1553C>T p.P518L Missense 10/21 - 1
4-55593394-TC-T c.1555del p.H519Tfs*8 Frameshift 10/21 - 1
4-55593394-T-TC c.1555dup p.H519Pfs*36 Frameshift 10/21 - 2
4-55593398-C-T c.1555C>T p.H519Y Missense 10/21 - 3
4-55593399-A-AT c.1556_1557insT p.T520Hfs*35 Frameshift 10/21 - 1
4-55593399-A-CAT c.1556delinsCAT p.H519Pfs*9 Frameshift 10/21 - 1
4-55593401-A-C c.1558A>C p.T520P Missense 10/21 - 1
4-55593402-C-A c.1559C>A p.T520N Missense 10/21 - 2
4-55593402-C-G c.1559C>G p.T520S Missense 10/21 - 1
4-55593401-A-AC c.1561dup p.L521Pfs*34 Frameshift 10/21 - 1
4-55593401-AC-A c.1561del p.L521Cfs*6 Frameshift 10/21 - 2
4-55593404-C-A c.1561C>A p.L521M Missense 10/21 - 1
4-55593404-CT-TC c.1561_1562delinsTC p.L521S Missense 10/21 - 1
4-55593406-G-GC c.1563_1564insC p.F522Lfs*33 Frameshift 10/21 - 1
4-55593407-T-A c.1564T>A p.F522I Missense 10/21 - 1
4-55593407-T-C c.1564T>C p.F522L Missense 10/21 - 1
4-55593409-C-A c.1566C>A p.F522L Missense 10/21 - 1
4-55593409-C-G c.1566C>G p.F522L Missense 10/21 - 1
4-55593408-T-G c.1565T>G p.F522C Missense 10/21 - 61
4-55593411-C-A c.1568C>A p.T523N Missense 10/21 - 1
4-55593411-C-T c.1568C>T p.T523I Missense 10/21 - 1
4-55593414-C-A c.1571C>A p.P524H Missense 10/21 - 3
4-55593414-CCTT-C c.1571_1573del p.P524del InFrameDeletion 10/21 - 1
4-55593414-C-T c.1571C>T p.P524L Missense 10/21 - 3
4-55593416-T-C c.1573T>C p.L525= Synonymous 10/21 - 1
4-55593416-T-G c.1573T>G p.L525V Missense 10/21 - 1
4-55593416-TT-AG c.1573_1574delinsAG p.L525R Missense 10/21 - 1
4-55593419-C-T c.1576C>T p.L526= Synonymous 10/21 - 1
4-55593422-A-T c.1579A>T p.I527F Missense 10/21 - 1
4-55593424-T-A c.1581T>A p.I527= Synonymous 10/21 - 1
4-55593424-T-C c.1581T>C p.I527= Synonymous 10/21 - 1
4-55593425-G-A c.1582G>A p.G528S Missense 10/21 - 3
4-55593426-G-A c.1583G>A p.G528D Missense 10/21 - 1
4-55593426-G-C c.1583G>C p.G528A Missense 10/21 - 1
4-55593427-T-A c.1584T>A p.G528= Synonymous 10/21 - 1
4-55593427-T-C c.1584T>C p.G528= Synonymous 10/21 - 1
4-55593427-T-G c.1584T>G p.G528= Synonymous 10/21 - 1
4-55593426-G-GT c.1586dup p.V530Rfs*25 Frameshift 10/21 - 1
4-55593429-T-C c.1586T>C p.F529S Missense 10/21 - 1
4-55593430-C-A c.1587C>A p.F529L Missense 10/21 - 1
4-55593430-C-T c.1587C>T p.F529= Synonymous 10/21 - 1
4-55593431-G-A c.1588G>A p.V530I Missense 10/21 - 62
4-55593431-G-C c.1588G>C p.V530L Missense 10/21 - 1
4-55593431-GTA-ATG c.1588_1590delinsATG p.V530M Missense 10/21 - 1
4-55593434-A-C c.1591A>C p.I531L Missense 10/21 - 2
4-55593434-A-G c.1591A>G p.I531V Missense 10/21 - 2
4-55593436-TC-T c.1593del p.I531Mfs*2 Frameshift 10/21 - 1
4-55593437-G-A c.1594G>A p.V532I Missense 10/21 - 27
4-55593439-A-C c.1596A>C p.V532= Synonymous 10/21 - 1
4-55593439-A-G c.1596A>G p.V532= Synonymous 10/21 - 1
4-55593439-A-T c.1596A>T p.V532= Synonymous 10/21 - 1
4-55593441-C-A c.1598C>A p.A533D Missense 10/21 - 22
4-55593441-C-T c.1598C>T p.A533V Missense 10/21 - 3
4-55593443-G-T c.1600G>T p.G534C Missense 10/21 - 3
4-55593444-G-T c.1601G>T p.G534V Missense 10/21 - 2
4-55593446-A-G c.1603A>G p.M535V Missense 10/21 - 1
4-55593446-A-AT c.1604dup p.M535Ifs*20 Frameshift 10/21 - 1
4-55593447-T-C c.1604T>C p.M535T Missense 10/21 - 5
4-55593448-G-A c.1605G>A p.M535I Missense 10/21 - 3
4-55593448-G-C c.1605G>C p.M535I Missense 10/21 - 2
4-55593448-G-T c.1605G>T p.M535I Missense 10/21 - 2
4-55593449-A-C c.1606A>C p.M536L Missense 10/21 - 1
4-55593449-A-T c.1606A>T p.M536L Missense 10/21 - 1
4-55593450-T-G c.1607T>G p.M536R Missense 10/21 - 2
4-55593451-G-A c.1608G>A p.M536I Missense 10/21 - 5
4-55593451-G-C c.1608G>C p.M536I Missense 10/21 - 4
4-55593451-G-T c.1608G>T p.M536I Missense 10/21 - 4
4-55593452-T-A c.1609T>A p.C537S Missense 10/21 - 7
4-55593453-G-C c.1610G>C p.C537S Missense 10/21 - 6
4-55593455-A-G c.1612A>G p.I538V Missense 10/21 - 2
4-55593456-T-G c.1613T>G p.I538S Missense 10/21 - 1
4-55593458-A-G c.1615A>G p.I539V Missense 10/21 - 3
4-55593458-TA-T c.1615del p.I539Lfs*2 Frameshift 10/21 - 1
4-55593459-T-A c.1616T>A p.I539N Missense 10/21 - 1
4-55593461-G-C c.1618G>C p.V540L Missense 10/21 - 5
4-55593461-G-T c.1618G>T p.V540L Missense 10/21 - 4
4-55593462-T-C c.1619T>C p.V540A Missense 10/21 - 1
4-55593463-G-A c.1620G>A p.V540= Synonymous 10/21 - 1
4-55593463-G-C c.1620G>C p.V540= Synonymous 10/21 - 1
4-55593463-G-T c.1620G>T p.V540= Synonymous 10/21 - 1
4-55593464-A-C c.1621A>C p.M541L Missense 10/21 - 217
4-55593464-A-G c.1621A>G p.M541V Missense 10/21 - 19
4-55593464-A-T c.1621A>T p.M541L Missense 10/21 - 111
4-55593465-T-C c.1622T>C p.M541T Missense 10/21 - 2
4-55593465-T-G c.1622T>G p.M541R Missense 10/21 - 1
4-55593466-G-A c.1623G>A p.M541I Missense 10/21 - 2
4-55593466-G-C c.1623G>C p.M541I Missense 10/21 - 2
4-55593466-G-T c.1623G>T p.M541I Missense 10/21 - 3
4-55593467-A-T c.1624A>T p.I542F Missense 10/21 - 1
4-55593468-T-C c.1625T>C p.I542T Missense 10/21 - 1
4-55593469-T-G c.1626T>G p.I542M Missense 10/21 - 1
4-55593472-G-C c.1629G>C p.L543= Synonymous 10/21 - 1
4-55593472-TG-T c.1629del p.T544Pfs*20 Frameshift 10/21 - 1
4-55593473-GA-G c.1630del p.T544Pfs*20 Frameshift 10/21 - 1
4-55593476-T-C c.1633T>C p.Y545H Missense 10/21 - 4
4-55593477-A-G c.1634A>G p.Y545C Missense 10/21 - 1
4-55593477-A-T c.1634A>T p.Y545F Missense 10/21 - 1
4-55593478-C-A c.1635C>A p.Y545* Nonsense 10/21 - 2
4-55593479-A-G c.1636A>G p.K546E Missense 10/21 - 1
4-55593480-A-C c.1637A>C p.K546T Missense 10/21 - 2
4-55593478-CA-C c.1638del p.K546Nfs*18 Frameshift 10/21 - 1
4-55593478-C-CA c.1638dup p.Y547Ifs*8 Frameshift 10/21 - 1
4-55593481-A-C c.1638A>C p.K546N Missense 10/21 - 1
4-55593481-A-G c.1638A>G p.K546= Synonymous 10/21 - 43
4-55593481-A-T c.1638A>T p.K546N Missense 10/21 - 1
4-55593482-T-A c.1639T>A p.Y547N Missense 10/21 - 1
4-55593482-TA-GC c.1639_1640delinsGC p.Y547A Missense 10/21 - 1
4-55593483-A-G c.1640A>G p.Y547C Missense 10/21 - 2
4-55593484-T-C c.1641T>C p.Y547= Synonymous 10/21 - 1
4-55593485-T-G c.1642T>G p.L548V Missense 10/21 - 2
4-55593483-AT-A c.1643del p.L548Yfs*16 Frameshift 10/21 - 1
4-55593486-TA-GG c.1643_1644delinsGG p.L548W Missense 10/21 - 1
4-55593487-A-AT c.1644_1645insT p.Q549Sfs*6 Frameshift 10/21 - 1
4-55593487-A-C c.1644A>C p.L548F Missense 10/21 - 1
4-55593487-A-T c.1644A>T p.L548F Missense 10/21 - 1
4-55593488-AC-A c.1645del p.Q549Rfs*15 Frameshift 10/21 - 1
4-55593488-C-T c.1645C>T p.Q549* Nonsense 10/21 - 1
4-55593490-G-A c.1647G>A p.Q549= Synonymous 10/21 - 1
4-55593491-G-T c.1647+1G>T - IntronicSNV - 10/20 1
4-55593505-G-T c.1647+15G>T - IntronicSNV - 10/20 1
4-55593516-A-G c.1647+26A>G - IntronicSNV - 10/20 1
4-55593525-T-C c.1647+35T>C - IntronicSNV - 10/20 1
4-55593538-A-G c.1648-44A>G - IntronicSNV - 10/20 1
4-55593577-CACAGAAACCCATGTATGAAGT-C c.1648_1668del p.K550_Q556del InFrameDeletion 11/21 - 3
4-55593579-CAGAAACCCATGTATGAAGTACAGTGGA-C c.1648_1674del p.K550_K558del InFrameDeletion 11/21 - 13
4-55593579-CAGAAACCCATGTATGA-C c.1648_1663del p.K550Yfs*9 SpliceAcceptorDeletion 11/21 - 1
4-55593580-AGAAACCCAT-A c.1648_1656del p.K550_M552del InFrameDeletion 11/21 - 1
4-55593582-AAACCCATGTATGAAG-T c.1648_1663delinsT p.K550_V555delinsL SpliceAcceptorBlockSubstitution 11/21 - 1
4-55593582-AA-CT c.1648_1649delinsCT p.K550L Missense 11/21 - 2
4-55593582-A-T c.1648A>T p.K550* Nonsense 11/21 - 1
4-55593582-GAAACCCATGTATGAA-G c.1648_1662del p.K550_E554del SpliceAcceptorDeletion 11/21 - 3
4-55593582-GAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGT-G c.1648_1706del p.K550Lfs*10 InFrameDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAAGTA-G c.1648_1665del p.K550_V555del InFrameDeletion 11/21 - 4
4-55593581-GAAACCCATGTATGAAGTACAGTGGA-G c.1649_1673del p.K550Rfs*6 SpliceAcceptorDeletion 11/21 - 3
4-55593581-GAAACCC-G c.1649_1654del p.K550_P551del SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCAT-A c.1649_1655del p.K550Sfs*12 SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCATGTATGAAG-A c.1649_1663del p.K550_V555delinsI SpliceAcceptorDeletion 11/21 - 2
4-55593583-AAACCCATGTATGAAGTACAGTGGAAGG-A c.1649_1675del p.K550_V559delinsI SpliceAcceptorDeletion 11/21 - 2
4-55593583-A-G c.1649A>G p.K550R Missense 11/21 - 2
4-55593583-A-T c.1649A>T p.K550I Missense 11/21 - 7
4-55593580-AGAAACCCATGTATGAAGTACAGTG-A c.1650_1673del p.P551_K558del InFrameDeletion 11/21 - 2
4-55593581-GA-G c.1650del p.K550Nfs*14 Frameshift 11/21 - 2
4-55593581-G-GA c.1650dup p.P551Tfs*4 Frameshift 11/21 - 1
4-55593582-AAACCCATGTATGAAGTAC-A c.1650_1667del p.P551_Q556del InFrameDeletion 11/21 - 2
4-55593584-A-C c.1650A>C p.K550N Missense 11/21 - 13
4-55593584-ACCCATGTATGAAGTACAGTGGAA-CCTTCG c.1650_1673delinsCCTTCG p.K550_K558delinsNLR MultiAAMissense 11/21 - 1
4-55593584-AC-TA c.1650_1651delinsTA p.K550_P551delinsNT MultiAAMissense 11/21 - 3
4-55593584-A-T c.1650A>T p.K550N Missense 11/21 - 12
4-55593582-AAACCCATGTATG-A c.1651_1662del p.P551_E554del InFrameDeletion 11/21 - 5
4-55593583-AACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTT-A c.1652_1710del p.P551Hfs*9 InFrameDeletion 11/21 - 1
4-55593585-ACCC-A c.1651_1653del p.P551del InFrameDeletion 11/21 - 2
4-55593585-ACCCATG-A c.1651_1656del p.P551_M552del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTAT-A c.1651_1659del p.P551_Y553del InFrameDeletion 11/21 - 2
4-55593585-ACCCATGTATGAAG-A c.1651_1663del p.P551Yfs*9 Frameshift 11/21 - 1
4-55593585-ACCCATGTATGAAGTACAG-A c.1651_1668del p.P551_Q556del InFrameDeletion 11/21 - 2
4-55593585-ACCCATGTATGAAGTACAGTGGAAGGTTGTTG-A c.1651_1681del p.P551Rfs*3 Frameshift 11/21 - 1
4-55593585-C-A c.1651C>A p.P551T Missense 11/21 - 3
4-55593585-CCC-AACACA c.1651_1653delinsAACACA p.P551delinsNT MultiAAMissense 11/21 - 1
4-55593585-C-T c.1651C>T p.P551S Missense 11/21 - 3
4-55593583-AACCCATGTATGAAGT-A c.1652_1666del p.P551_V555del InFrameDeletion 11/21 - 15
4-55593586-C-A c.1652C>A p.P551H Missense 11/21 - 5
4-55593586-CCCA-C c.1652_1654del p.P551_M552delinsL MultiAAMissense 11/21 - 4
4-55593586-CCCATGTATGAAG-C c.1652_1663del p.P551_V555delinsL MultiAAMissense 11/21 - 3
4-55593586-CCCATGTATGAAGTACAGT-C c.1652_1669del p.P551_W557delinsR MultiAAMissense 11/21 - 1
4-55593586-CCCATGTATGAAGTACAGTGGA-C c.1652_1672del p.P551_K558delinsQ MultiAAMissense 11/21 - 2
4-55593586-CCCATGTATG-C c.1652_1660del p.P551_E554delinsQ MultiAAMissense 11/21 - 2
4-55593586-CCCATGT-C c.1652_1657del p.P551_Y553delinsH MultiAAMissense 11/21 - 1
4-55593586-C-G c.1652C>G p.P551R Missense 11/21 - 4
4-55593586-C-T c.1652C>T p.P551L Missense 11/21 - 8
4-55593587-C-A c.1653C>A p.P551= Synonymous 11/21 - 2
4-55593587-CATGTATG-A c.1653_1660delinsA p.M552Kfs*10 Frameshift 11/21 - 1
4-55593587-CATGTATG-AA c.1653_1660delinsAA p.M552_E554delinsK MultiAAMissense 11/21 - 1
4-55593587-CCATGTA-C c.1653_1658del p.M552_Y553del InFrameDeletion 11/21 - 1
4-55593587-CCATGTATGAAGTACAGTG-C c.1653_1670del p.M552_W557del InFrameDeletion 11/21 - 4
4-55593587-CCATGTATGAAGTACAGTGGAAGGT-C c.1653_1676del p.M552_V559del InFrameDeletion 11/21 - 2
4-55593587-CCATGTATGAAGT-C c.1653_1664del p.M552_V555del InFrameDeletion 11/21 - 1
4-55593587-CCATGTATGA-C c.1653_1661del p.M552_E554del InFrameDeletion 11/21 - 1
4-55593588-A-C c.1654A>C p.M552L Missense 11/21 - 15
4-55593588-A-G c.1654A>G p.M552V Missense 11/21 - 3
4-55593588-A-T c.1654A>T p.M552L Missense 11/21 - 15
4-55593588-ATG-CAT c.1654_1656inv p.M552H Missense 11/21 - 1
4-55593588-CATG-C c.1654_1656del p.M552del InFrameDeletion 11/21 - 4
4-55593588-CATGTAT-C c.1654_1659del p.M552_Y553del InFrameDeletion 11/21 - 8
4-55593588-CATGTATGAA-C c.1654_1662del p.M552_E554del InFrameDeletion 11/21 - 5
4-55593588-CATGTATGAAGTA-C c.1654_1665del p.M552_V555del InFrameDeletion 11/21 - 3
4-55593588-CATGTATGAAGTACAG-C c.1654_1668del p.M552_Q556del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTACAGTG-C c.1654_1670del p.M552Efs*4 Frameshift 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAG-C c.1654_1674del p.M552_K558del InFrameDeletion 11/21 - 3
4-55593588-CATGTATGAAGTACAGTGGAAGGTT-C c.1654_1677del p.M552_V559del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTT-C c.1654_1680del p.M552_V560del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTTGAG-C c.1654_1683del p.M552_E561del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT-C c.1655_1713del p.M552Rfs*8 InFrameDeletion 11/21 - 1
4-55593587-CATGTATGAAGTACAGTGG-C c.1655_1672del p.M552_W557del InFrameDeletion 11/21 - 7
4-55593589-ATGT-A c.1655_1657del p.M552_Y553delinsN MultiAAMissense 11/21 - 1
4-55593589-ATGTATG-A c.1655_1660del p.M552_E554delinsK MultiAAMissense 11/21 - 5
4-55593589-ATGTATGAAGTAC-A c.1655_1666del p.M552_Q556delinsK MultiAAMissense 11/21 - 4
4-55593589-T-A c.1655T>A p.M552K Missense 11/21 - 2
4-55593589-T-C c.1655T>C p.M552T Missense 11/21 - 8
4-55593589-T-G c.1655T>G p.M552R Missense 11/21 - 2
4-55593588-ATGTATGAAG-A c.1656_1664del p.M552_V555delinsI MultiAAMissense 11/21 - 1
4-55593588-ATGTATGAAGTACAGTGGAAGG-A c.1656_1676del p.M552_V559delinsI MultiAAMissense 11/21 - 2
4-55593588-ATGTATGAAGTACAGTGGAAGGTTG-A c.1656_1679del p.M552_V560delinsI MultiAAMissense 11/21 - 1
4-55593590-G-A c.1656G>A p.M552I Missense 11/21 - 2
4-55593590-G-C c.1656G>C p.M552I Missense 11/21 - 3
4-55593590-G-T c.1656G>T p.M552I Missense 11/21 - 2
4-55593588-ATGTATGAAGTACAG-A c.1657_1670del p.Y553Efs*4 Frameshift 11/21 - 1
4-55593589-TGTATGAAGTACAGTGGAAGGTTGTTGA-T c.1657_1683del p.Y553_E561del InFrameDeletion 11/21 - 2
4-55593589-TGTATGAAGTACAGTGGAA-T c.1657_1674del p.Y553_K558del InFrameDeletion 11/21 - 18
4-55593589-TGTATGAAGTACAGTG-T c.1657_1671del p.Y553_W557del InFrameDeletion 11/21 - 1
4-55593591-GTAT-G c.1657_1659del p.Y553del InFrameDeletion 11/21 - 4
4-55593591-GTATGAA-G c.1657_1662del p.Y553_E554del InFrameDeletion 11/21 - 1
4-55593591-GTATGAAGTA-G c.1657_1665del p.Y553_V555del InFrameDeletion 11/21 - 1
4-55593591-T-A c.1657T>A p.Y553N Missense 11/21 - 26
4-55593591-TA-CT c.1657_1658delinsCT p.Y553L Missense 11/21 - 1
4-55593591-TAT-AAG c.1657_1659delinsAAG p.Y553K Missense 11/21 - 3
4-55593591-T-C c.1657T>C p.Y553H Missense 11/21 - 1
4-55593591-T-G c.1657T>G p.Y553D Missense 11/21 - 1
4-55593589-TGTATGAAGTACA-T c.1658_1669del p.Y553_Q556del InFrameDeletion 11/21 - 5
4-55593592-A-C c.1658A>C p.Y553S Missense 11/21 - 2
4-55593592-A-G c.1658A>G p.Y553C Missense 11/21 - 8
4-55593592-AT-GG c.1658_1659delinsGG p.Y553W Missense 11/21 - 1
4-55593592-TATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACA-T c.1658_1711del p.Y553_I571delinsL MultiAAMissense 11/21 - 1
4-55593592-TATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-T c.1658_1716del p.Y553Sfs*7 MultiAAMissense 11/21 - 3
4-55593593-ATGAAGTACAGTG-A c.1659_1670del p.Y553_W557delins* MultiAAMissense 11/21 - 1
4-55593593-ATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT-A c.1659_1712del p.Y553_I571delins* MultiAAMissense 11/21 - 1
4-55593593-T-A c.1659T>A p.Y553* Nonsense 11/21 - 2
4-55593593-T-C c.1659T>C p.Y553= Synonymous 11/21 - 1
4-55593593-T-G c.1659T>G p.Y553* Nonsense 11/21 - 2
4-55593593-TGAAGTACAGTGG-CTTC c.1659_1671delinsCTTC p.E554_W557delinsF MultiAAMissense 11/21 - 1
4-55593594-G-A c.1660G>A p.E554K Missense 11/21 - 8
4-55593594-G-C c.1660G>C p.E554Q Missense 11/21 - 1
4-55593594-TGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-T c.1660_1716del p.E554_D572del InFrameDeletion 11/21 - 2
4-55593594-TGAAGTA-T c.1660_1665del p.E554_V555del InFrameDeletion 11/21 - 1
4-55593590-GTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAAT-G c.1661_1705del p.E554_Y568del InFrameDeletion 11/21 - 1
4-55593591-TATGAAGTACAGTGGAAGGTTGTTGAGGAGATAA-T c.1661_1693del p.E554_N564del InFrameDeletion 11/21 - 1
4-55593592-ATGAAGTACAGTGGAAGGT-A c.1661_1678del p.E554_V559del InFrameDeletion 11/21 - 3
4-55593593-TGAAGTACAGTGGAAG-T c.1661_1675del p.E554_K558del InFrameDeletion 11/21 - 11
4-55593593-TGAA-T c.1661_1663del p.E554del InFrameDeletion 11/21 - 9
4-55593595-A-ACGTTGAGGG c.1661_1662insCGTTGAGGG p.E554delinsDVEG MultiAAMissense 11/21 - 1
4-55593595-A-G c.1661A>G p.E554G Missense 11/21 - 3
4-55593593-TGAAGTACAGTGGAAGGTTGTTGAG-T c.1662_1685del p.V555_E562del InFrameDeletion 11/21 - 3
4-55593594-GAAGTACAGTGGA-G c.1662_1673del p.Q556_V559del InFrameDeletion 11/21 - 1
4-55593594-G-GA c.1662dup p.V555Sfs*7 Frameshift 11/21 - 1
4-55593596-A-C c.1662A>C p.E554D Missense 11/21 - 3
4-55593596-A-G c.1662A>G p.E554= Synonymous 11/21 - 1
4-55593596-AGTACAGTGGAAG-GGAAGAA c.1662_1674delinsGGAAGAA p.V555_K558delinsEE MultiAAMissense 11/21 - 1
4-55593596-A-T c.1662A>T p.E554D Missense 11/21 - 3
4-55593595-AAGT-A c.1663_1665del p.V555del InFrameDeletion 11/21 - 13
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGAT-A c.1663_1689del p.V555_I563del InFrameDeletion 11/21 - 3
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-A c.1663_1719del p.V555_P573del InFrameDeletion 11/21 - 3
4-55593597-AG-A c.1663del p.V555Yfs*9 Frameshift 11/21 - 1
4-55593597-AGTACAG-A c.1663_1668del p.V555_Q556del InFrameDeletion 11/21 - 4
4-55593597-AGTACAGTGG-A c.1663_1671del p.V555_W557del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-A c.1663_1710del p.V555_Y570del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-A c.1663_1716del p.V555_D572del InFrameDeletion 11/21 - 1
4-55593597-G-A c.1663G>A p.V555I Missense 11/21 - 5
4-55593597-G-C c.1663G>C p.V555L Missense 11/21 - 1
4-55593597-G-T c.1663G>T p.V555L Missense 11/21 - 1
4-55593597-GTA-ATG c.1663_1665delinsATG p.V555M Missense 11/21 - 1
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT-A c.1664_1714del p.V555_I571del InFrameDeletion 11/21 - 5
4-55593596-AGTACAGTGGAAGGTTGTT-A c.1664_1681del p.V555_V560del InFrameDeletion 11/21 - 4
4-55593598-GTACAGT-G c.1664_1669del p.V555_W557delinsG MultiAAMissense 11/21 - 1
4-55593598-T-A c.1664T>A p.V555E Missense 11/21 - 1
4-55593598-T-C c.1664T>C p.V555A Missense 11/21 - 5
4-55593598-T-G c.1664T>G p.V555G Missense 11/21 - 1
4-55593596-AGTACAGTGGAAG-A c.1665_1676del p.Q556_V559del InFrameDeletion 11/21 - 5
4-55593596-AGTACAGTGGAAGGTT-A c.1665_1679del p.Q556_V560del InFrameDeletion 11/21 - 10
4-55593599-A-C c.1665A>C p.V555= Synonymous 11/21 - 1
4-55593599-ACAGTGGA-CC c.1665_1672delinsCC p.W557_K558del InFrameDeletion 11/21 - 1
4-55593599-A-G c.1665A>G p.V555= Synonymous 11/21 - 1
4-55593599-A-T c.1665A>T p.V555= Synonymous 11/21 - 1
4-55593599-TACAGTGGAA-T c.1665_1673del p.Q556_K558del InFrameDeletion 11/21 - 1
4-55593597-GTACAGTGGAAGGTTGTTGAGGAGA-G c.1666_1689del p.Q556_I563del InFrameDeletion 11/21 - 4
4-55593598-TACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-T c.1666_1719del p.Q556_P573del InFrameDeletion 11/21 - 1
4-55593600-ACAG-A c.1666_1668del p.Q556del InFrameDeletion 11/21 - 17
4-55593600-ACAGTGG-A c.1666_1671del p.Q556_W557del InFrameDeletion 11/21 - 5
4-55593600-ACAGTGGAAG-A c.1666_1674del p.Q556_K558del InFrameDeletion 11/21 - 1
4-55593600-ACAGTGGAAGGTT-A c.1666_1677del p.Q556_V559del InFrameDeletion 11/21 - 1
4-55593600-ACAGTGGAAGGTTGTT-A c.1666_1680del p.Q556_V560del InFrameDeletion 11/21 - 4
4-55593600-ACAGTGGAAGGTTGTTGAG-A c.1666_1683del p.Q556_E561del InFrameDeletion 11/21 - 1
4-55593600-C-A c.1666C>A p.Q556K Missense 11/21 - 1
4-55593600-CA-GT c.1666_1667delinsGT p.Q556V Missense 11/21 - 1
4-55593600-C-G c.1666C>G p.Q556E Missense 11/21 - 2
4-55593600-C-T c.1666C>T p.Q556* Nonsense 11/21 - 1
4-55593601-A-G c.1667A>G p.Q556R Missense 11/21 - 3
4-55593601-A-T c.1667A>T p.Q556L Missense 11/21 - 1
4-55593601-CA-C c.1667del p.Q556Rfs*8 Frameshift 11/21 - 1
4-55593601-CAGT-C c.1667_1669del p.Q556_W557delinsR MultiAAMissense 11/21 - 4
4-55593601-CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-C c.1667_1725del p.Q556Pfs*4 InFrameDeletion 11/21 - 2
4-55593598-TACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAAC-T c.1668_1724del p.W557_Q575del InFrameDeletion 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-C c.1668_1715del p.Q556_D572delinsH MultiAAMissense 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTGAGGAGATAA-C c.1668_1691del p.Q556_N564delinsH MultiAAMissense 11/21 - 2
4-55593602-AGTGGAAGGT-A c.1668_1676del p.Q556_V559delinsH MultiAAMissense 11/21 - 6
4-55593602-AGTGGAAGGTTGT-A c.1668_1679del p.Q556_V560delinsH MultiAAMissense 11/21 - 7
4-55593602-AGTGGAAGGTTGTTGAGGAG-A c.1668_1686del p.W557* Frameshift 11/21 - 2
4-55593602-AGTGGAAGGTTGTTGAGGAGAT-A c.1668_1688del p.W557_I563del InFrameDeletion 11/21 - 1
4-55593602-AGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAAC-A c.1668_1721del p.W557_T574del InFrameDeletion 11/21 - 1
4-55593602-AGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAAC-A c.1668_1726del p.Q556Hfs*4 InFrameDeletion 11/21 - 1
4-55593602-G-A c.1668G>A p.Q556= Synonymous 11/21 - 4
4-55593602-G-C c.1668G>C p.Q556H Missense 11/21 - 5
4-55593602-G-T c.1668G>T p.Q556H Missense 11/21 - 5
4-55593602-GTGG-A c.1668_1671delinsA p.W557del InFrameDeletion 11/21 - 3
4-55593602-GTGGAAGGTTGTTGAG-ACAA c.1668_1683delinsACAA p.W557_E561delinsQ MultiAAMissense 11/21 - 1
4-55593602-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-ACCTT c.1668_1717delinsACCTT p.W557_P573delinsPS MultiAAMissense 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTGAGG-C c.1669_1686del p.W557_E562del InFrameDeletion 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTG-C c.1669_1683del p.W557_E561del InFrameDeletion 11/21 - 28
4-55593600-CAGTGGA-C c.1669_1674del p.W557_K558del InFrameDeletion 11/21 - 54
4-55593601-AGTG-A c.1669_1671del p.W557del InFrameDeletion 11/21 - 15
4-55593602-G-GT c.1669dup p.W557Lfs*5 Frameshift 11/21 - 4
4-55593603-GTGGAA-G c.1669_1673del p.W557Gfs*3 Frameshift 11/21 - 3
4-55593603-GTGGAAGGTT-G c.1669_1677del p.W557_V559del InFrameDeletion 11/21 - 6
4-55593603-GTGGAAGGTTGTT-G c.1669_1680del p.W557_V560del InFrameDeletion 11/21 - 5
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1669_1725del p.W557_Q575del InFrameDeletion 11/21 - 1
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-G c.1669_1710del p.W557_Y570del InFrameDeletion 11/21 - 2
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAAC-G c.1669_1698del p.W557_N566del InFrameDeletion 11/21 - 1
4-55593603-GTGGA-G c.1669_1672del p.W557Rfs*6 Frameshift 11/21 - 3
4-55593603-T-A c.1669T>A p.W557R Missense 11/21 - 140
4-55593603-T-C c.1669T>C p.W557R Missense 11/21 - 148
4-55593603-T-G c.1669T>G p.W557G Missense 11/21 - 77
4-55593603-TG-AC c.1669_1670delinsAC p.W557T Missense 11/21 - 1
4-55593603-TG-AT c.1669_1670delinsAT p.W557M Missense 11/21 - 1
4-55593603-TGG-ATCCTT c.1669_1671delinsATCCTT p.W557delinsIL MultiAAMissense 11/21 - 1
4-55593603-T-TTTC c.1669_1670insTTC p.W557delinsFR MultiAAMissense 11/21 - 1
4-55593604-G-A c.1670G>A p.W557* Nonsense 11/21 - 5
4-55593604-G-C c.1670G>C p.W557S Missense 11/21 - 15
4-55593604-GG-TT c.1670_1671delinsTT p.W557F Missense 11/21 - 4
4-55593604-G-T c.1670G>T p.W557L Missense 11/21 - 3
4-55593604-TGGAAGG-T c.1670_1675del p.W557_V559delinsF MultiAAMissense 11/21 - 28
4-55593604-TGGAAGGTTG-T c.1670_1678del p.W557_V560delinsF MultiAAMissense 11/21 - 5
4-55593604-TGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-T c.1670_1717del p.W557_P573delinsS MultiAAMissense 11/21 - 1
4-55593605-G-A c.1671G>A p.W557* Nonsense 11/21 - 4
4-55593603-TG-T c.1671del p.W557* Frameshift 11/21 - 1
4-55593605-G-C c.1671G>C p.W557C Missense 11/21 - 20
4-55593605-GGAAGGT-G c.1671_1676del p.W557_V559delinsC MultiAAMissense 11/21 - 12
4-55593605-GGAAGGTTGT-G c.1671_1679del p.W557_V560delinsC MultiAAMissense 11/21 - 7
4-55593605-GGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA-G c.1671_1715del p.W557_D572delinsC MultiAAMissense 11/21 - 1
4-55593605-G-T c.1671G>T p.W557C Missense 11/21 - 21
4-55593603-TGGAA-T c.1672_1675del p.K558Lfs*5 Frameshift 11/21 - 1
4-55593604-GGAA-G c.1672_1674del p.K558del InFrameDeletion 11/21 - 51
4-55593606-AAG-CCTACA c.1672_1674delinsCCTACA p.K558delinsPT MultiAAMissense 11/21 - 1
4-55593606-AA-GG c.1672_1673delinsGG p.K558G Missense 11/21 - 1
4-55593606-AAGGTTGTTG-C c.1672_1681delinsC p.K558_E561delinsQ MultiAAMissense 11/21 - 2
4-55593606-A-C c.1672A>C p.K558Q Missense 11/21 - 9
4-55593606-A-G c.1672A>G p.K558E Missense 11/21 - 27
4-55593606-GAAGGTT-G c.1672_1677del p.K558_V559del InFrameDeletion 11/21 - 8
4-55593606-GAAGGTTGTT-G c.1672_1680del p.K558_V560del InFrameDeletion 11/21 - 18
4-55593606-GAAGGTTGTTGAGGAGATAAAT-G c.1672_1692del p.K558_N564del InFrameDeletion 11/21 - 3
4-55593606-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATA-G c.1672_1713del p.K558_I571del InFrameDeletion 11/21 - 1
4-55593606-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1672_1725del p.K558_Q575del InFrameDeletion 11/21 - 1
4-55593606-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-G c.1672_1716del p.K558_D572del InFrameDeletion 11/21 - 2
4-55593604-GGAAGGTTGTTGAGGA-G c.1673_1687del p.K558_E562del InFrameDeletion 11/21 - 24
4-55593607-A-ACGTTGAGGG c.1673_1674insCGTTGAGGG p.K558delinsNVEG MultiAAMissense 11/21 - 1
4-55593607-AAGGTTG-A c.1673_1678del p.K558_V560delinsI MultiAAMissense 11/21 - 2
4-55593607-AAGGTTGTTGAGGAGATAAATG-A c.1673_1693del p.K558_G565delinsR MultiAAMissense 11/21 - 5
4-55593607-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-A c.1673_1717del p.K558_P573delinsT MultiAAMissense 11/21 - 1
4-55593607-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTC-A c.1673_1729del p.K558_P577delinsT MultiAAMissense 11/21 - 1
4-55593607-A-ATCC c.1673_1674insTCC p.K558delinsNP MultiAAMissense 11/21 - 9
4-55593607-A-G c.1673A>G p.K558R Missense 11/21 - 10
4-55593607-AG-GC c.1673_1674delinsGC p.K558S Missense 11/21 - 1
4-55593607-AGGT-G c.1673_1676delinsG p.K558_V559delinsS MultiAAMissense 11/21 - 1
4-55593607-AG-TC c.1673_1674delinsTC p.K558I Missense 11/21 - 3
4-55593605-GAAGGTTGTTGAGGAGATAAATGGA-G c.1674_1697del p.K558_G565del InFrameDeletion 11/21 - 1
4-55593606-AAGGTTGTTGAGGAGATAAATGG-A c.1674_1695del p.V559Tfs*6 Frameshift 11/21 - 2
4-55593606-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-A c.1674_1715del p.K558_D572delinsN MultiAAMissense 11/21 - 4
4-55593608-AGGT-A c.1674_1676del p.K558_V559delinsN MultiAAMissense 11/21 - 7
4-55593608-AGGTTGT-A c.1674_1679del p.K558_V560delinsN MultiAAMissense 11/21 - 5
4-55593608-G-A c.1674G>A p.K558= Synonymous 11/21 - 9
4-55593608-G-C c.1674G>C p.K558N Missense 11/21 - 19
4-55593608-G-GAGC c.1674_1675insAGC p.K558_V559insS InFrameInsertion 11/21 - 1
4-55593608-G-T c.1674G>T p.K558N Missense 11/21 - 18
4-55593606-AAGGTTGTTGAGG-A c.1675_1686del p.V559_E562del InFrameDeletion 11/21 - 1
4-55593609-G-A c.1675G>A p.V559I Missense 11/21 - 47
4-55593609-G-C c.1675G>C p.V559L Missense 11/21 - 1
4-55593609-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACA-G c.1675_1722del p.V559_T574del InFrameDeletion 11/21 - 2
4-55593609-GGTTGTTGAGGAGATAAATGGA-G c.1675_1695del p.V559_G565del InFrameDeletion 11/21 - 6
4-55593609-G-T c.1675G>T p.V559F Missense 11/21 - 4
4-55593609-GT-CC c.1675_1676delinsCC p.V559P Missense 11/21 - 2
4-55593609-GT-CG c.1675_1676delinsCG p.V559R Missense 11/21 - 1
4-55593609-GTT-AAG c.1675_1677delinsAAG p.V559K Missense 11/21 - 1
4-55593609-GT-TG c.1675_1676delinsTG p.V559C Missense 11/21 - 7
4-55593609-GTT-TAA c.1675_1677delinsTAA p.V559* Nonsense 11/21 - 2
4-55593606-AAGGTTGTTG-A c.1676_1684del p.V559_E561del InFrameDeletion 11/21 - 8
4-55593608-GGTTGTT-G c.1676_1681del p.V559_V560del InFrameDeletion 11/21 - 7
4-55593608-GGTTGTTGAGGAGATAAAT-G c.1676_1693del p.V559_N564del InFrameDeletion 11/21 - 1
4-55593608-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATA-G c.1676_1714del p.V559_I571del InFrameDeletion 11/21 - 2
4-55593610-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA-G c.1676_1720del p.V559_T574delinsA MultiAAMissense 11/21 - 1
4-55593610-T-A c.1676T>A p.V559D Missense 11/21 - 246
4-55593610-T-C c.1676T>C p.V559A Missense 11/21 - 148
4-55593610-T-G c.1676T>G p.V559G Missense 11/21 - 87
4-55593610-TTGTTGAGGAGATAAATGG-A c.1676_1694delinsA p.V559_G565delinsE MultiAAMissense 11/21 - 1
4-55593609-GTTGTTGAGGAGA-G c.1677_1688del p.V560_I563del InFrameDeletion 11/21 - 1
4-55593611-T-A c.1677T>A p.V559= Synonymous 11/21 - 1
4-55593611-T-C c.1677T>C p.V559= Synonymous 11/21 - 1
4-55593611-T-G c.1677T>G p.V559= Synonymous 11/21 - 2
4-55593609-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAAC-G c.1678_1728del p.V560_L576del InFrameDeletion 11/21 - 10
4-55593612-G-A c.1678G>A p.V560I Missense 11/21 - 5
4-55593612-G-T c.1678G>T p.V560F Missense 11/21 - 3
4-55593612-GTT-TAA c.1678_1680delinsTAA p.V560* Nonsense 11/21 - 1
4-55593612-TGTTGAGGAGATAAATGGAAAC-T c.1678_1698del p.V560_N566del InFrameDeletion 11/21 - 1
4-55593608-GGTT-G c.1679_1681del p.V560del InFrameDeletion 11/21 - 86
4-55593610-TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTA-T c.1679_1735del p.V560_Y578del InFrameDeletion 11/21 - 6
4-55593613-T-A c.1679T>A p.V560D Missense 11/21 - 192
4-55593613-T-C c.1679T>C p.V560A Missense 11/21 - 21
4-55593613-T-G c.1679T>G p.V560G Missense 11/21 - 200
4-55593613-TT-AG c.1679_1680delinsAG p.V560E Missense 11/21 - 29
4-55593614-T-A c.1680T>A p.V560= Synonymous 11/21 - 5
4-55593614-T-C c.1680T>C p.V560= Synonymous 11/21 - 3
4-55593614-T-G c.1680T>G p.V560= Synonymous 11/21 - 2
4-55593614-TTGA-T c.1680_1682del p.E562del InFrameDeletion 11/21 - 1
4-55593614-T-TG c.1681dup p.E561Gfs*19 Frameshift 11/21 - 1
4-55593615-G-A c.1681G>A p.E561K Missense 11/21 - 22
4-55593615-GA-CC c.1681_1682delinsCC p.E561P Missense 11/21 - 1
4-55593615-GAG-CTTCAA c.1681_1683delinsCTTCAA p.E561delinsLQ MultiAAMissense 11/21 - 1
4-55593615-G-C c.1681G>C p.E561Q Missense 11/21 - 1
4-55593615-G-CTTA c.1681delinsCTTA p.E561delinsLK MultiAAMissense 11/21 - 1
4-55593616-A-G c.1682A>G p.E561G Missense 11/21 - 4
4-55593617-G-A c.1683G>A p.E561= Synonymous 11/21 - 5
4-55593617-G-C c.1683G>C p.E561D Missense 11/21 - 1
4-55593617-G-T c.1683G>T p.E561D Missense 11/21 - 1
4-55593614-TGAG-T c.1684_1686del p.E562del InFrameDeletion 11/21 - 30
4-55593618-G-A c.1684G>A p.E562K Missense 11/21 - 10
4-55593618-GAG-AGGGGT c.1684_1686delinsAGGGGT p.E562delinsRG MultiAAMissense 11/21 - 1
4-55593618-G-C c.1684G>C p.E562Q Missense 11/21 - 3
4-55593618-GGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1684_1728del p.E562_L576del InFrameDeletion 11/21 - 1
4-55593618-GGAGATAAATGGAAACAATTATGTTTACATAGACCCA-G c.1684_1719del p.E562_P573del InFrameDeletion 11/21 - 1
4-55593618-G-T c.1684G>T p.E562* Nonsense 11/21 - 2
4-55593619-A-G c.1685A>G p.E562G Missense 11/21 - 6
4-55593619-A-T c.1685A>T p.E562V Missense 11/21 - 3
4-55593620-AGATAAATGGAAACAATTATGT-A c.1686_1706del p.E562_V569delinsD MultiAAMissense 11/21 - 1
4-55593620-AGATAAATGGAAACAATTATGTTT-A c.1686_1708del p.I563Hfs*9 Frameshift 11/21 - 1
4-55593620-G-A c.1686G>A p.E562= Synonymous 11/21 - 1
4-55593620-G-C c.1686G>C p.E562D Missense 11/21 - 4
4-55593620-G-T c.1686G>T p.E562D Missense 11/21 - 3
4-55593621-A-C c.1687A>C p.I563L Missense 11/21 - 1
4-55593621-A-G c.1687A>G p.I563V Missense 11/21 - 3
4-55593621-A-T c.1687A>T p.I563L Missense 11/21 - 1
4-55593621-GATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1687_1728del p.I563_L576del InFrameDeletion 11/21 - 1
4-55593621-GATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1687_1725del p.I563_Q575del InFrameDeletion 11/21 - 1
4-55593621-GATAAATGGAAACAATTATGTTTACATAGAC-G c.1687_1716del p.I563_D572del InFrameDeletion 11/21 - 1
4-55593620-GATAAATGGAAACAATTATGTTTACATAGACCCA-G c.1688_1720del p.I563_P573del InFrameDeletion 11/21 - 3
4-55593620-GATA-G c.1688_1690del p.I563del InFrameDeletion 11/21 - 7
4-55593622-T-A c.1688T>A p.I563K Missense 11/21 - 8
4-55593622-T-C c.1688T>C p.I563T Missense 11/21 - 2
4-55593620-GATAA-G c.1689_1692del p.I563Mfs*8 Frameshift 11/21 - 1
4-55593623-A-G c.1689A>G p.I563M Missense 11/21 - 1
4-55593623-TAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTA-T c.1689_1733del p.N564_Y578del InFrameDeletion 11/21 - 1
4-55593624-AAAT-A c.1690_1692del p.N564del InFrameDeletion 11/21 - 1
4-55593624-AAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-A c.1690_1728del p.N564_L576del InFrameDeletion 11/21 - 3
4-55593624-AAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTAT-A c.1690_1734del p.N564_Y578del InFrameDeletion 11/21 - 1
4-55593624-A-C c.1690A>C p.N564H Missense 11/21 - 1
4-55593624-A-G c.1690A>G p.N564D Missense 11/21 - 2
4-55593624-A-T c.1690A>T p.N564Y Missense 11/21 - 5
4-55593625-A-G c.1691A>G p.N564S Missense 11/21 - 6
4-55593625-A-T c.1691A>T p.N564I Missense 11/21 - 1
4-55593625-ATGGAAACAATTATGTTTACATAG-GTT c.1691_1714delinsGTT p.N564_D572delinsSY MultiAAMissense 11/21 - 1
4-55593626-T-A c.1692T>A p.N564K Missense 11/21 - 7
4-55593626-T-C c.1692T>C p.N564= Synonymous 11/21 - 2
4-55593626-T-G c.1692T>G p.N564K Missense 11/21 - 7
4-55593625-ATGGAAACAATTATGTTTACATAGACCCAACACAACT-A c.1693_1728del p.G565_L576del InFrameDeletion 11/21 - 3
4-55593627-G-A c.1693G>A p.G565R Missense 11/21 - 6
4-55593627-G-C c.1693G>C p.G565R Missense 11/21 - 5
4-55593627-GG-AC c.1693_1694delinsAC p.G565T Missense 11/21 - 1
4-55593627-GG-CC c.1693_1694inv p.G565P Missense 11/21 - 1
4-55593627-G-T c.1693G>T p.G565* Nonsense 11/21 - 3
4-55593627-TGGAAACAATTATGTTTACATAGACCCA-T c.1693_1719del p.G565_P573del InFrameDeletion 11/21 - 1
4-55593627-TGGA-T c.1693_1695del p.G565del InFrameDeletion 11/21 - 7
4-55593626-TGGAAACAATTATGTTTACATA-T c.1694_1714del p.G565_I571del InFrameDeletion 11/21 - 1
4-55593626-TG-T c.1694del p.G565Efs*7 Frameshift 11/21 - 1
4-55593628-G-A c.1694G>A p.G565E Missense 11/21 - 5
4-55593628-G-C c.1694G>C p.G565A Missense 11/21 - 2
4-55593628-GGAAACAATTATGTTTACATAGACCCAACACAACT-G c.1694_1727del p.G565Vfs*14 Frameshift 11/21 - 1
4-55593628-GGAAACAATTATGTTTACATAGACCCAA-G c.1694_1720del p.G565_T574delinsA MultiAAMissense 11/21 - 3
4-55593628-GGAAACAATTATGTTTACATAGACC-G c.1694_1717del p.G565_P573delinsA MultiAAMissense 11/21 - 1
4-55593628-G-T c.1694G>T p.G565V Missense 11/21 - 21
4-55593629-A-C c.1695A>C p.G565= Synonymous 11/21 - 1
4-55593629-A-G c.1695A>G p.G565= Synonymous 11/21 - 1
4-55593629-A-T c.1695A>T p.G565= Synonymous 11/21 - 1
4-55593628-GAAACAATTATGTTTACATAGACCCAAC-G c.1696_1722del p.N566_T574del InFrameDeletion 11/21 - 1
4-55593630-AAACAATTATGTTTACATAGAC-A c.1696_1716del p.N566_D572del InFrameDeletion 11/21 - 1
4-55593630-A-G c.1696A>G p.N566D Missense 11/21 - 17
4-55593630-A-T c.1696A>T p.N566Y Missense 11/21 - 1
4-55593628-GAAACAATTATGTTTACATAGACCC-G c.1697_1720del p.N566_P573del InFrameDeletion 11/21 - 3
4-55593628-G-GA c.1697dup p.N566Kfs*14 Frameshift 11/21 - 1
4-55593631-A-C c.1697A>C p.N566T Missense 11/21 - 1
4-55593631-A-G c.1697A>G p.N566S Missense 11/21 - 7
4-55593629-AAAC-A c.1698_1700del p.N567del InFrameDeletion 11/21 - 2
4-55593632-ACAATTATGTTTACAT-A c.1698_1712del p.N566_I571delinsK MultiAAMissense 11/21 - 1
4-55593632-C-A c.1698C>A p.N566K Missense 11/21 - 1
4-55593632-C-G c.1698C>G p.N566K Missense 11/21 - 1
4-55593632-C-T c.1698C>T p.N566= Synonymous 11/21 - 5
4-55593633-A-C c.1699A>C p.N567H Missense 11/21 - 1
4-55593633-CAATTATGTTTACATAGACCCAACA-C c.1699_1722del p.N567_T574del InFrameDeletion 11/21 - 1
4-55593629-AAACAATTATGTTTACATAGACCC-A c.1700_1722del p.N567Tfs*5 Frameshift 11/21 - 2
4-55593632-CAATTATGTTTACATAGACCCA-C c.1700_1720del p.N567_P573del InFrameDeletion 11/21 - 3
4-55593633-A-AAAGACCCAACACAACTTCCTTATGATC c.1700_1701insAGACCCAACACAACTTCCTTATGATCA p.N567delinsKDPTQLPYDH MultiAAMissense 11/21 - 1
4-55593634-AATTATGTTTACATAGACCCAACACAAC-A c.1700_1726del p.N567_L576delinsI MultiAAMissense 11/21 - 1
4-55593634-A-G c.1700A>G p.N567S Missense 11/21 - 4
4-55593634-A-T c.1700A>T p.N567I Missense 11/21 - 2
4-55593633-AATTATGTTTACATAGACCCAACAC-A c.1701_1724del p.N567_Q575delinsK MultiAAMissense 11/21 - 1
4-55593635-T-A c.1701T>A p.N567K Missense 11/21 - 4
4-55593635-T-C c.1701T>C p.N567= Synonymous 11/21 - 1
4-55593635-T-G c.1701T>G p.N567K Missense 11/21 - 1
4-55593635-TTATGTTTACATAGACCCAACACAAC-GGAAG c.1701_1726delinsGGAAG p.N567_L576delinsKEV MultiAAMissense 11/21 - 1
4-55593634-A-AT c.1702dup p.Y568Lfs*12 Frameshift 11/21 - 1
4-55593636-T-G c.1702T>G p.Y568D Missense 11/21 - 13
4-55593636-TTATGTTTACATAGACCCAACA-T c.1702_1722del p.Y568_T574del InFrameDeletion 11/21 - 2
4-55593637-A-C c.1703A>C p.Y568S Missense 11/21 - 4
4-55593637-A-G c.1703A>G p.Y568C Missense 11/21 - 6
4-55593637-A-T c.1703A>T p.Y568F Missense 11/21 - 8
4-55593638-T-C c.1704T>C p.Y568= Synonymous 11/21 - 2
4-55593637-ATGTTTACATAGACCCAACACAACT-A c.1705_1728del p.V569_L576del InFrameDeletion 11/21 - 6
4-55593639-G-A c.1705G>A p.V569I Missense 11/21 - 6
4-55593639-G-C c.1705G>C p.V569L Missense 11/21 - 2
4-55593639-TGTTTACATAGACCCAACACAAC-T c.1705_1726del p.V569Ffs*14 Frameshift 11/21 - 2
4-55593639-TGTTTACATAGACCCAACACAA-T c.1705_1725del p.V569_Q575del InFrameDeletion 11/21 - 2
4-55593639-TGTTTACATAGAC-T c.1705_1716del p.V569_D572del InFrameDeletion 11/21 - 1
4-55593634-ATTATGTTTACATAGACCCAACACAACTTCC-A c.1706_1735del p.V569_Y578del InFrameDeletion 11/21 - 3
4-55593639-G-GTAAGT c.1706_1707insAAGTT p.Y570Sfs*4 Frameshift 11/21 - 1
4-55593640-T-C c.1706T>C p.V569A Missense 11/21 - 14
4-55593640-T-G c.1706T>G p.V569G Missense 11/21 - 11
4-55593640-TT-AG c.1706_1707delinsAG p.V569E Missense 11/21 - 1
4-55593639-GTTTACATAGACCCAACACAACTTCCTTA-G c.1707_1734del p.Y570Ifs*11 Frameshift 11/21 - 1
4-55593641-T-A c.1707T>A p.V569= Synonymous 11/21 - 1
4-55593641-T-C c.1707T>C p.V569= Synonymous 11/21 - 1
4-55593641-T-G c.1707T>G p.V569= Synonymous 11/21 - 1
4-55593639-GT-G c.1708del p.Y570Tfs*2 Frameshift 11/21 - 2
4-55593639-GTTTACATAGACCCAACACAAC-G c.1708_1728del p.Y570_L576del InFrameDeletion 11/21 - 20
4-55593642-T-C c.1708T>C p.Y570H Missense 11/21 - 8
4-55593642-T-G c.1708T>G p.Y570D Missense 11/21 - 2
4-55593642-TTAC-T c.1708_1710del p.Y570del InFrameDeletion 11/21 - 1
4-55593643-A-C c.1709A>C p.Y570S Missense 11/21 - 1
4-55593643-A-G c.1709A>G p.Y570C Missense 11/21 - 5
4-55593643-A-T c.1709A>T p.Y570F Missense 11/21 - 4
4-55593644-C-A c.1710C>A p.Y570* Nonsense 11/21 - 5
4-55593644-C-G c.1710C>G p.Y570* Nonsense 11/21 - 3
4-55593644-C-T c.1710C>T p.Y570= Synonymous 11/21 - 1
4-55593643-ACATAGAC-A c.1711_1717del p.I571Qfs*17 Frameshift 11/21 - 1
4-55593645-A-C c.1711A>C p.I571L Missense 11/21 - 4
4-55593645-A-G c.1711A>G p.I571V Missense 11/21 - 8
4-55593645-A-T c.1711A>T p.I571L Missense 11/21 - 4
4-55593645-AT-GC c.1711_1712delinsGC p.I571A Missense 11/21 - 1
4-55593645-CATA-C c.1711_1713del p.I571del InFrameDeletion 11/21 - 5
4-55593645-CATAGACCCAACACAACTT-C c.1711_1728del p.I571_L576del InFrameDeletion 11/21 - 2
4-55593645-CATAGACCCAACACAACTTCCT-C c.1711_1731del p.I571_P577del InFrameDeletion 11/21 - 1
4-55593646-T-A c.1712T>A p.I571K Missense 11/21 - 3
4-55593646-T-C c.1712T>C p.I571T Missense 11/21 - 1
4-55593646-T-G c.1712T>G p.I571R Missense 11/21 - 1
4-55593647-A-G c.1713A>G p.I571M Missense 11/21 - 4
4-55593648-AGAC-A c.1714_1716del p.D572del InFrameDeletion 11/21 - 3
4-55593648-G-A c.1714G>A p.D572N Missense 11/21 - 5
4-55593648-G-C c.1714G>C p.D572H Missense 11/21 - 2
4-55593648-G-T c.1714G>T p.D572Y Missense 11/21 - 3
4-55593649-A-C c.1715A>C p.D572A Missense 11/21 - 9
4-55593649-A-G c.1715A>G p.D572G Missense 11/21 - 14
4-55593650-C-A c.1716C>A p.D572E Missense 11/21 - 2
4-55593650-C-G c.1716C>G p.D572E Missense 11/21 - 2
4-55593650-C-T c.1716C>T p.D572= Synonymous 11/21 - 1
4-55593651-C-A c.1717C>A p.P573T Missense 11/21 - 2
4-55593651-CCCA-C c.1717_1719del p.P573del InFrameDeletion 11/21 - 4
4-55593651-C-G c.1717C>G p.P573A Missense 11/21 - 1
4-55593651-C-T c.1717C>T p.P573S Missense 11/21 - 3
4-55593649-A-AC c.1718dup p.T574Nfs*6 Frameshift 11/21 - 1
4-55593652-C-A c.1718C>A p.P573Q Missense 11/21 - 4
4-55593652-C-CTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCTGAGTTT c.1718_1719insTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCTGAGTTT p.P573_T574insYDHKWEFPRNRLSL InFrameInsertion 11/21 - 1
4-55593652-C-G c.1718C>G p.P573R Missense 11/21 - 4
4-55593652-C-T c.1718C>T p.P573L Missense 11/21 - 18
4-55593653-A-G c.1719A>G p.P573= Synonymous 11/21 - 2
4-55593653-CAACACAACTTCCTTATGATCA-C c.1719_1739del p.T574_H580del InFrameDeletion 11/21 - 1
4-55593651-CCAA-C c.1720_1722del p.T574del InFrameDeletion 11/21 - 8
4-55593654-A-C c.1720A>C p.T574P Missense 11/21 - 2
4-55593654-A-G c.1720A>G p.T574A Missense 11/21 - 9
4-55593653-AACACAACTTCCTTATGATCAC-A c.1721_1741del p.T574_H580del InFrameDeletion 11/21 - 1
4-55593655-ACAC-A c.1721_1723del p.T574_Q575delinsK MultiAAMissense 11/21 - 1
4-55593655-C-T c.1721C>T p.T574I Missense 11/21 - 6
4-55593654-ACACAACTTC-A c.1722_1730del p.Q575_P577del InFrameDeletion 11/21 - 1
4-55593656-A-AAAG c.1722_1723insAAG p.T574_Q575insK InFrameInsertion 11/21 - 1
4-55593656-A-G c.1722A>G p.T574= Synonymous 11/21 - 2
4-55593657-C-G c.1723C>G p.Q575E Missense 11/21 - 1
4-55593657-C-T c.1723C>T p.Q575* Nonsense 11/21 - 3
4-55593655-CACA-C c.1724_1726del p.Q575del InFrameDeletion 11/21 - 15
4-55593658-A-C c.1724A>C p.Q575P Missense 11/21 - 2
4-55593658-A-G c.1724A>G p.Q575R Missense 11/21 - 1
4-55593658-A-T c.1724A>T p.Q575L Missense 11/21 - 2
4-55593656-ACAACTTCCTTATGAT-A c.1725_1739del p.Q575_D579del InFrameDeletion 11/21 - 1
4-55593657-CAACTTCCTT-C c.1725_1733del p.Q575_Y578delinsH MultiAAMissense 11/21 - 2
4-55593659-A-C c.1725A>C p.Q575H Missense 11/21 - 1
4-55593659-A-G c.1725A>G p.Q575= Synonymous 11/21 - 2
4-55593659-A-T c.1725A>T p.Q575H Missense 11/21 - 1
4-55593659-A-AC c.1726dup p.L576Pfs*4 Frameshift 11/21 - 1
4-55593660-C-A c.1726C>A p.L576I Missense 11/21 - 1
4-55593660-C-CACAAATGGGAGTTTCCCAGAAACAGGCTGAGTTTTG c.1726_1727insACAAATGGGAGTTTCCCAGAAACAGGCTGAGTTTTG p.L576delinsHKWEFPRNRLSFV MultiAAMissense 11/21 - 1
4-55593660-C-G c.1726C>G p.L576V Missense 11/21 - 3
4-55593660-C-T c.1726C>T p.L576F Missense 11/21 - 9
4-55593660-CT-AA c.1726_1727delinsAA p.L576N Missense 11/21 - 1
4-55593660-CTT-AAGGAG c.1726_1728delinsAAGGAG p.L576delinsKE MultiAAMissense 11/21 - 1
4-55593660-CTT-AAGGAGGTA c.1726_1728delinsAAGGAGGTA p.L576delinsKEV MultiAAMissense 11/21 - 1
4-55593660-CTT-ATG c.1726_1728delinsATG p.L576M Missense 11/21 - 1
4-55593660-CT-TG c.1726_1727delinsTG p.L576C Missense 11/21 - 1
4-55593660-CTT-TGTGTA c.1726_1728delinsTGTGTA p.L576delinsCV MultiAAMissense 11/21 - 1
4-55593659-ACTT-A c.1727_1729del p.L576del InFrameDeletion 11/21 - 37
4-55593661-T-A c.1727T>A p.L576H Missense 11/21 - 2
4-55593661-T-C c.1727T>C p.L576P Missense 11/21 - 365
4-55593660-CT-C c.1728del p.P577Lfs*13 Frameshift 11/21 - 1
4-55593662-T-A c.1728T>A p.L576= Synonymous 11/21 - 2
4-55593662-T-C c.1728T>C p.L576= Synonymous 11/21 - 1
4-55593662-T-G c.1728T>G p.L576= Synonymous 11/21 - 1
4-55593661-TTCC-T c.1729_1731del p.P577del InFrameDeletion 11/21 - 11
4-55593661-TTCCTTA-T c.1729_1734del p.P577_Y578del InFrameDeletion 11/21 - 1
4-55593663-C-A c.1729C>A p.P577T Missense 11/21 - 2
4-55593663-C-T c.1729C>T p.P577S Missense 11/21 - 13
4-55593661-TTCCTTATGA-T c.1730_1738del p.P577_D579del InFrameDeletion 11/21 - 3
4-55593664-C-A c.1730C>A p.P577H Missense 11/21 - 1
4-55593664-C-T c.1730C>T p.P577L Missense 11/21 - 5
4-55593665-T-A c.1731T>A p.P577= Synonymous 11/21 - 2
4-55593665-T-C c.1731T>C p.P577= Synonymous 11/21 - 3
4-55593665-T-G c.1731T>G p.P577= Synonymous 11/21 - 2
4-55593664-CTTA-C c.1732_1734del p.Y578del InFrameDeletion 11/21 - 10
4-55593664-CTTATGA-C c.1732_1737del p.Y578_D579del InFrameDeletion 11/21 - 2
4-55593666-T-A c.1732T>A p.Y578N Missense 11/21 - 1
4-55593666-TA-CC c.1732_1733delinsCC p.Y578P Missense 11/21 - 1
4-55593666-TA-GG c.1732_1733delinsGG p.Y578G Missense 11/21 - 1
4-55593665-TTA-T c.1733_1734del p.Y578* Frameshift 11/21 - 1
4-55593667-A-G c.1733A>G p.Y578C Missense 11/21 - 24
4-55593667-A-T c.1733A>T p.Y578F Missense 11/21 - 1
4-55593668-T-A c.1734T>A p.Y578* Nonsense 11/21 - 1
4-55593668-T-C c.1734T>C p.Y578= Synonymous 11/21 - 1
4-55593666-TATG-T c.1735_1737del p.D579del InFrameDeletion 11/21 - 73
4-55593669-G-A c.1735G