RYR2

RYR2 ryanodine receptor 2

Annotation transcript: NM_001035.3

11044 unique variant annotations were identified in 2056 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-237205823-T-C c.2T>C p.M1? Missense 1/105 - 1
1-237205824-G-A c.3G>A p.M1? Missense 1/105 - 3
1-237205824-G-C c.3G>C p.M1? Missense 1/105 - 1
1-237205824-G-T c.3G>T p.M1? Missense 1/105 - 1
1-237205825-G-T c.4G>T p.A2S Missense 1/105 - 1
1-237205826-C-T c.5C>T p.A2V Missense 1/105 - 1
1-237205827-C-A c.6C>A p.A2= Synonymous 1/105 - 2
1-237205827-C-G c.6C>G p.A2= Synonymous 1/105 - 2
1-237205827-C-T c.6C>T p.A2= Synonymous 1/105 - 3
1-237205828-G-A c.7G>A p.D3N Missense 1/105 - 2
1-237205832-G-A c.11G>A p.G4E Missense 1/105 - 3
1-237205830-TG-T c.14del p.G5Afs*97 Frameshift 1/105 - 1
1-237205835-G-A c.14G>A p.G5D Missense 1/105 - 1
1-237205839-G-C c.18G>C p.E6D Missense 1/105 - 1
1-237205840-G-A c.19G>A p.G7S Missense 1/105 - 2
1-237205842-C-A c.21C>A p.G7= Synonymous 1/105 - 3
1-237205842-C-G c.21C>G p.G7= Synonymous 1/105 - 3
1-237205842-C-T c.21C>T p.G7= Synonymous 1/105 - 4
1-237205843-G-A c.22G>A p.E8K Missense 1/105 - 1
1-237205846-G-C c.25G>C p.D9H Missense 1/105 - 2
1-237205848-C-T c.27C>T p.D9= Synonymous 1/105 - 2
1-237205849-G-A c.28G>A p.E10K Missense 1/105 - 2
1-237205851-G-T c.30G>T p.E10D Missense 1/105 - 1
1-237205853-T-C c.32T>C p.I11T Missense 1/105 - 2
1-237205853-T-G c.32T>G p.I11S Missense 1/105 - 1
1-237205855-C-G c.34C>G p.Q12E Missense 1/105 - 1
1-237205855-C-T c.34C>T p.Q12* Nonsense 1/105 - 1
1-237205856-A-G c.35A>G p.Q12R Missense 1/105 - 1
1-237205857-G-C c.36G>C p.Q12H Missense 1/105 - 2
1-237205857-G-T c.36G>T p.Q12H Missense 1/105 - 1
1-237205858-T-C c.37T>C p.F13L Missense 1/105 - 5
1-237205858-TT-GC c.37_38delinsGC p.F13A Missense 1/105 - 1
1-237205860-C-A c.39C>A p.F13L Missense 1/105 - 2
1-237205860-C-G c.39C>G p.F13L Missense 1/105 - 2
1-237205861-C-A c.40C>A p.L14M Missense 1/105 - 1
1-237205862-T-C c.41T>C p.L14P Missense 1/105 - 2
1-237205862-T-G c.41T>G p.L14R Missense 1/105 - 2
1-237205860-C-CCTGCTGCTG c.43_44insTGCTGCTGC p.L14_R15insLLL InFrameInsertion 1/105 - 1
1-237205864-C-A c.43C>A p.R15= Synonymous 1/105 - 1
1-237205864-CG-AA c.43_44delinsAA p.R15K Missense 1/105 - 1
1-237205864-CGA-ATG c.43_45delinsATG p.R15M Missense 1/105 - 1
1-237205864-C-T c.43C>T p.R15* Nonsense 1/105 - 2
1-237205865-G-A c.44G>A p.R15Q Missense 1/105 - 1
1-237205865-GA-AT c.44_45delinsAT p.R15H Missense 1/105 - 1
1-237205865-G-C c.44G>C p.R15P Missense 1/105 - 4
1-237205867-A-G c.46A>G p.T16A Missense 1/105 - 2
1-237205868-C-A c.47C>A p.T16N Missense 1/105 - 1
1-237205869-T-A c.48T>A p.T16= Synonymous 1/105 - 2
1-237205869-T-C c.48T>C p.T16= Synonymous 1/105 - 2
1-237205869-T-G c.48T>G p.T16= Synonymous 1/105 - 2
1-237206073-G-A c.48+204G>A - IntronicSNV - 1/104 1
1-237207189-A-G c.48+1320A>G - IntronicSNV - 1/104 1
1-237207965-A-C c.48+2096A>C - IntronicSNV - 1/104 2
1-237207965-A-T c.48+2096A>T - IntronicSNV - 1/104 2
1-237210003-C-T c.48+4134C>T - IntronicSNV - 1/104 1
1-237215658-G-A c.48+9789G>A - IntronicSNV - 1/104 1
1-237216900-C-G c.48+11031C>G - IntronicSNV - 1/104 1
1-237216900-C-T c.48+11031C>T - IntronicSNV - 1/104 1
1-237219553-A-G c.48+13684A>G - IntronicSNV - 1/104 1
1-237219632-A-G c.48+13763A>G - IntronicSNV - 1/104 1
1-237219943-T-C c.48+14074T>C - IntronicSNV - 1/104 1
1-237220510-G-A c.48+14641G>A - IntronicSNV - 1/104 1
1-237226074-C-T c.48+20205C>T - IntronicSNV - 1/104 1
1-237227916-C-A c.48+22047C>A - IntronicSNV - 1/104 1
1-237228904-T-C c.48+23035T>C - IntronicSNV - 1/104 1
1-237228939-T-C c.48+23070T>C - IntronicSNV - 1/104 1
1-237234361-G-A c.48+28492G>A - IntronicSNV - 1/104 1
1-237237896-A-C c.48+32027A>C - IntronicSNV - 1/104 1
1-237238483-CT-C c.48+32623del - IntronicDeletion - 1/104 1
1-237240737-T-C c.48+34868T>C - IntronicSNV - 1/104 1
1-237240737-T-G c.48+34868T>G - IntronicSNV - 1/104 1
1-237241468-A-G c.48+35599A>G - IntronicSNV - 1/104 1
1-237248026-G-C c.48+42157G>C - IntronicSNV - 1/104 1
1-237248616-C-G c.48+42747C>G - IntronicSNV - 1/104 1
1-237250100-G-A c.48+44231G>A - IntronicSNV - 1/104 1
1-237256977-T-A c.48+51108T>A - IntronicSNV - 1/104 1
1-237257824-C-G c.48+51955C>G - IntronicSNV - 1/104 1
1-237257824-C-T c.48+51955C>T - IntronicSNV - 1/104 1
1-237261059-C-T c.48+55190C>T - IntronicSNV - 1/104 1
1-237266603-A-G c.48+60734A>G - IntronicSNV - 1/104 3
1-237271956-G-C c.48+66087G>C - IntronicSNV - 1/104 1
1-237272645-GT-G c.48+66786del - IntronicDeletion - 1/104 1
1-237272840-C-T c.48+66971C>T - IntronicSNV - 1/104 1
1-237274001-T-G c.48+68132T>G - IntronicSNV - 1/104 1
1-237277098-A-C c.48+71229A>C - IntronicSNV - 1/104 1
1-237277098-A-T c.48+71229A>T - IntronicSNV - 1/104 1
1-237277611-T-A c.48+71742T>A - IntronicSNV - 1/104 1
1-237278525-G-C c.48+72656G>C - IntronicSNV - 1/104 1
1-237278774-C-T c.48+72905C>T - IntronicSNV - 1/104 1
1-237280629-G-A c.48+74760G>A - IntronicSNV - 1/104 1
1-237285456-T-C c.48+79587T>C - IntronicSNV - 1/104 1
1-237287518-G-T c.48+81649G>T - IntronicSNV - 1/104 1
1-237290558-G-A c.48+84689G>A - IntronicSNV - 1/104 1
1-237290573-C-A c.48+84704C>A - IntronicSNV - 1/104 1
1-237290662-T-A c.48+84793T>A - IntronicSNV - 1/104 1
1-237290662-T-C c.48+84793T>C - IntronicSNV - 1/104 1
1-237291094-G-A c.48+85225G>A - IntronicSNV - 1/104 1
1-237297536-C-A c.48+91667C>A - IntronicSNV - 1/104 1
1-237299349-T-C c.48+93480T>C - IntronicSNV - 1/104 1
1-237299685-C-A c.48+93816C>A - IntronicSNV - 1/104 2
1-237305478-C-A c.48+99609C>A - IntronicSNV - 1/104 1
1-237305988-C-T c.48+100119C>T - IntronicSNV - 1/104 1
1-237305992-C-G c.48+100123C>G - IntronicSNV - 1/104 1
1-237305992-C-T c.48+100123C>T - IntronicSNV - 1/104 1
1-237306314-A-G c.48+100445A>G - IntronicSNV - 1/104 1
1-237306582-C-A c.48+100713C>A - IntronicSNV - 1/104 1
1-237306944-T-C c.48+101075T>C - IntronicSNV - 1/104 1
1-237308733-ATATG-A c.48+102864_48+102867del - IntronicDeletion - 1/104 1
1-237309889-C-G c.48+104020C>G - IntronicSNV - 1/104 1
1-237312833-G-T c.48+106964G>T - IntronicSNV - 1/104 1
1-237314692-A-C c.48+108823A>C - IntronicSNV - 1/104 1
1-237314695-G-A c.48+108826G>A - IntronicSNV - 1/104 1
1-237314695-G-T c.48+108826G>T - IntronicSNV - 1/104 1
1-237326254-T-C c.49-107543T>C - IntronicSNV - 1/104 1
1-237326254-T-G c.49-107543T>G - IntronicSNV - 1/104 1
1-237326348-G-C c.49-107449G>C - IntronicSNV - 1/104 2
1-237331142-C-T c.49-102655C>T - IntronicSNV - 1/104 1
1-237332842-T-TC c.49-100954dup - IntronicInsertion - 1/104 1
1-237332842-T-TCC c.49-100954_49-100953insCC - IntronicInsertion - 1/104 1
1-237346325-G-A c.49-87472G>A - IntronicSNV - 1/104 1
1-237346325-G-T c.49-87472G>T - IntronicSNV - 1/104 1
1-237349738-T-A c.49-84059T>A - IntronicSNV - 1/104 1
1-237349738-T-C c.49-84059T>C - IntronicSNV - 1/104 1
1-237349879-A-C c.49-83918A>C - IntronicSNV - 1/104 1
1-237351121-T-G c.49-82676T>G - IntronicSNV - 1/104 1
1-237351122-T-A c.49-82675T>A - IntronicSNV - 1/104 1
1-237351122-T-C c.49-82675T>C - IntronicSNV - 1/104 1
1-237351123-A-C c.49-82674A>C - IntronicSNV - 1/104 1
1-237351123-A-T c.49-82674A>T - IntronicSNV - 1/104 1
1-237355844-A-C c.49-77953A>C - IntronicSNV - 1/104 1
1-237355985-C-A c.49-77812C>A - IntronicSNV - 1/104 1
1-237355985-C-G c.49-77812C>G - IntronicSNV - 1/104 1
1-237362709-C-A c.49-71088C>A - IntronicSNV - 1/104 1
1-237364944-G-A c.49-68853G>A - IntronicSNV - 1/104 1
1-237372799-G-A c.49-60998G>A - IntronicSNV - 1/104 1
1-237372799-G-C c.49-60998G>C - IntronicSNV - 1/104 1
1-237374491-A-G c.49-59306A>G - IntronicSNV - 1/104 1
1-237374491-A-T c.49-59306A>T - IntronicSNV - 1/104 1
1-237383894-G-A c.49-49903G>A - IntronicSNV - 1/104 1
1-237383894-G-T c.49-49903G>T - IntronicSNV - 1/104 1
1-237386365-G-A c.49-47432G>A - IntronicSNV - 1/104 1
1-237390732-A-C c.49-43065A>C - IntronicSNV - 1/104 1
1-237393277-T-A c.49-40520T>A - IntronicSNV - 1/104 1
1-237393277-T-C c.49-40520T>C - IntronicSNV - 1/104 1
1-237395982-A-G c.49-37815A>G - IntronicSNV - 1/104 1
1-237395982-A-T c.49-37815A>T - IntronicSNV - 1/104 1
1-237399867-G-C c.49-33930G>C - IntronicSNV - 1/104 1
1-237400112-A-G c.49-33685A>G - IntronicSNV - 1/104 1
1-237400148-A-T c.49-33649A>T - IntronicSNV - 1/104 1
1-237401245-C-CTTT c.49-32552_49-32551insTTT - IntronicInsertion - 1/104 1
1-237401245-C-CTTTCCTTT c.49-32552_49-32551insTTTCCTTT - IntronicInsertion - 1/104 1
1-237401245-C-CTTTCCTTTCCTTT c.49-32552_49-32551insTTTCCTTTCCTTT - IntronicInsertion - 1/104 1
1-237401245-C-CTTTCCTTTCCTTTCCTTT c.49-32552_49-32551insTTTCCTTTCCTTTCCTTT - IntronicInsertion - 1/104 1
1-237404593-C-A c.49-29204C>A - IntronicSNV - 1/104 1
1-237404593-C-T c.49-29204C>T - IntronicSNV - 1/104 1
1-237406569-C-A c.49-27228C>A - IntronicSNV - 1/104 1
1-237413292-G-C c.49-20505G>C - IntronicSNV - 1/104 1
1-237413292-G-T c.49-20505G>T - IntronicSNV - 1/104 1
1-237420086-C-A c.49-13711C>A - IntronicSNV - 1/104 1
1-237420086-C-T c.49-13711C>T - IntronicSNV - 1/104 1
1-237420681-T-C c.49-13116T>C - IntronicSNV - 1/104 1
1-237422989-C-A c.49-10808C>A - IntronicSNV - 1/104 3
1-237422989-C-T c.49-10808C>T - IntronicSNV - 1/104 3
1-237423052-C-T c.49-10745C>T - IntronicSNV - 1/104 1
1-237427344-A-G c.49-6453A>G - IntronicSNV - 1/104 1
1-237428520-G-A c.49-5277G>A - IntronicSNV - 1/104 1
1-237428640-T-A c.49-5157T>A - IntronicSNV - 1/104 1
1-237430622-T-A c.49-3175T>A - IntronicSNV - 1/104 1
1-237430622-T-C c.49-3175T>C - IntronicSNV - 1/104 1
1-237430681-A-G c.49-3116A>G - IntronicSNV - 1/104 1
1-237432302-A-G c.49-1495A>G - IntronicSNV - 1/104 1
1-237433239-T-C c.49-558T>C - IntronicSNV - 1/104 2
1-237433524-C-T c.49-273C>T - IntronicSNV - 1/104 6
1-237433625-C-T c.49-172C>T - IntronicSNV - 1/104 4
1-237433797-G-A c.49G>A p.D17N Missense 2/105 - 1
1-237433798-A-G c.50A>G p.D17G Missense 2/105 - 1
1-237433798-A-T c.50A>T p.D17V Missense 2/105 - 1
1-237433800-G-A c.52G>A p.D18N Missense 2/105 - 3
1-237433801-A-AT c.54dup p.E19* Nonsense 2/105 - 1
1-237433807-T-G c.59T>G p.V20G Missense 2/105 - 1
1-237433808-G-A c.60G>A p.V20= Synonymous 2/105 - 1
1-237433808-G-C c.60G>C p.V20= Synonymous 2/105 - 1
1-237433808-G-T c.60G>T p.V20= Synonymous 2/105 - 1
1-237433809-G-C c.61G>C p.V21L Missense 2/105 - 1
1-237433811-TCTG-T c.65_67del p.L22del InFrameDeletion 2/105 - 1
1-237433815-C-T c.67C>T p.Q23* Nonsense 2/105 - 1
1-237433816-A-G c.68A>G p.Q23R Missense 2/105 - 1
1-237433817-G-A c.69G>A p.Q23= Synonymous 2/105 - 1
1-237433818-TG-GC c.70_71delinsGC p.C24A Missense 2/105 - 1
1-237433819-G-A c.71G>A p.C24Y Missense 2/105 - 1
1-237433821-A-G c.73A>G p.T25A Missense 2/105 - 1
1-237433822-CC-AG c.74_75delinsAG p.T25K Missense 2/105 - 1
1-237433823-C-A c.75C>A p.T25= Synonymous 2/105 - 1
1-237433823-C-G c.75C>G p.T25= Synonymous 2/105 - 1
1-237433823-C-T c.75C>T p.T25= Synonymous 2/105 - 1
1-237433824-G-A c.76G>A p.A26T Missense 2/105 - 8
1-237433824-GCA-ATG c.76_78delinsATG p.A26M Missense 2/105 - 1
1-237433824-GC-AT c.76_77delinsAT p.A26I Missense 2/105 - 1
1-237433824-GCA-TAT c.76_78delinsTAT p.A26Y Missense 2/105 - 1
1-237433824-GCA-TGT c.76_78delinsTGT p.A26C Missense 2/105 - 2
1-237433824-GCA-TTT c.76_78delinsTTT p.A26F Missense 2/105 - 1
1-237433824-GC-TA c.76_77delinsTA p.A26* Nonsense 2/105 - 1
1-237433824-G-T c.76G>T p.A26S Missense 2/105 - 1
1-237433825-C-A c.77C>A p.A26E Missense 2/105 - 1
1-237433825-C-G c.77C>G p.A26G Missense 2/105 - 1
1-237433825-C-T c.77C>T p.A26V Missense 2/105 - 1
1-237433826-A-G c.78A>G p.A26= Synonymous 2/105 - 1
1-237433828-CC-AG c.80_81delinsAG p.T27K Missense 2/105 - 1
1-237433828-C-G c.80C>G p.T27S Missense 2/105 - 2
1-237433829-C-A c.81C>A p.T27= Synonymous 2/105 - 1
1-237433829-C-G c.81C>G p.T27= Synonymous 2/105 - 1
1-237433829-C-T c.81C>T p.T27= Synonymous 2/105 - 2
1-237433832-C-A c.84C>A p.I28= Synonymous 2/105 - 2
1-237433832-C-T c.84C>T p.I28= Synonymous 2/105 - 2
1-237433833-C-A c.85C>A p.H29N Missense 2/105 - 1
1-237433833-C-G c.85C>G p.H29D Missense 2/105 - 6
1-237433833-C-T c.85C>T p.H29Y Missense 2/105 - 2
1-237433834-A-G c.86A>G p.H29R Missense 2/105 - 1
1-237433835-C-A c.87C>A p.H29Q Missense 2/105 - 1
1-237433835-C-G c.87C>G p.H29Q Missense 2/105 - 1
1-237433837-AA-TG c.89_90delinsTG p.K30M Missense 2/105 - 1
1-237433839-G-A c.91G>A p.E31K Missense 2/105 - 5
1-237433839-G-C c.91G>C p.E31Q Missense 2/105 - 2
1-237433842-C-A c.94C>A p.Q32K Missense 2/105 - 3
1-237433842-C-T c.94C>T p.Q32* Nonsense 2/105 - 1
1-237433844-A-C c.96A>C p.Q32H Missense 2/105 - 1
1-237433844-A-T c.96A>T p.Q32H Missense 2/105 - 1
1-237433846-A-G c.98A>G p.Q33R Missense 2/105 - 2
1-237433846-A-T c.98A>T p.Q33L Missense 2/105 - 1
1-237433847-G-C c.99G>C p.Q33H Missense 2/105 - 1
1-237433847-G-T c.99G>T p.Q33H Missense 2/105 - 1
1-237433848-A-C c.100A>C p.K34Q Missense 2/105 - 1
1-237433848-A-G c.100A>G p.K34E Missense 2/105 - 2
1-237433848-A-T c.100A>T p.K34* Nonsense 2/105 - 1
1-237433850-G-C c.102G>C p.K34N Missense 2/105 - 1
1-237433851-C-G c.103C>G p.L35V Missense 2/105 - 1
1-237433851-CTA-TTT c.103_105delinsTTT p.L35F Missense 2/105 - 1
1-237433852-T-G c.104T>G p.L35R Missense 2/105 - 1
1-237433854-T-C c.106T>C p.C36R Missense 2/105 - 4
1-237433855-G-C c.107G>C p.C36S Missense 2/105 - 1
1-237433855-G-T c.107G>T p.C36F Missense 2/105 - 2
1-237433856-C-T c.108C>T p.C36= Synonymous 2/105 - 1
1-237433857-T-G c.109T>G p.L37V Missense 2/105 - 1
1-237433860-G-A c.112G>A p.A38T Missense 2/105 - 1
1-237433860-GC-TA c.112_113delinsTA p.A38* Nonsense 2/105 - 1
1-237433860-G-T c.112G>T p.A38S Missense 2/105 - 1
1-237433861-C-A c.113C>A p.A38E Missense 2/105 - 1
1-237433861-C-G c.113C>G p.A38G Missense 2/105 - 1
1-237433863-G-A c.115G>A p.A39T Missense 2/105 - 1
1-237433863-GC-AT c.115_116delinsAT p.A39I Missense 2/105 - 1
1-237433863-GCA-TGG c.115_117delinsTGG p.A39W Missense 2/105 - 1
1-237433863-GC-TA c.115_116delinsTA p.A39* Nonsense 2/105 - 1
1-237433864-C-A c.116C>A p.A39E Missense 2/105 - 1
1-237433864-C-T c.116C>T p.A39V Missense 2/105 - 1
1-237433867-A-C c.119A>C p.E40A Missense 2/105 - 2
1-237433869-G-A c.121G>A p.G41R Missense 2/105 - 1
1-237433870-G-A c.122G>A p.G41E Missense 2/105 - 1
1-237433871-A-C c.123A>C p.G41= Synonymous 2/105 - 1
1-237433871-A-G c.123A>G p.G41= Synonymous 2/105 - 1
1-237433871-A-T c.123A>T p.G41= Synonymous 2/105 - 1
1-237433872-T-A c.124T>A p.F42I Missense 2/105 - 1
1-237433873-T-A c.125T>A p.F42Y Missense 2/105 - 1
1-237433874-T-C c.126T>C p.F42= Synonymous 2/105 - 1
1-237433875-G-C c.127G>C p.G43R Missense 2/105 - 1
1-237433876-G-A c.128G>A p.G43D Missense 2/105 - 4
1-237433877-C-A c.129C>A p.G43= Synonymous 2/105 - 1
1-237433877-C-G c.129C>G p.G43= Synonymous 2/105 - 1
1-237433877-C-T c.129C>T p.G43= Synonymous 2/105 - 1
1-237433877-GC-G c.129del p.N44Tfs*58 Frameshift 2/105 - 1
1-237433880-C-A c.132C>A p.N44K Missense 2/105 - 1
1-237433881-AGA-CAT c.133_135delinsCAT p.R45H Missense 2/105 - 1
1-237433881-AGA-TGT c.133_135delinsTGT p.R45C Missense 2/105 - 1
1-237433882-G-T c.134G>T p.R45I Missense 2/105 - 1
1-237433881-A-C c.133A>C p.R45= Synonymous 2/105 - 1
1-237433883-A-G c.135A>G p.R45= Synonymous 2/105 - 1
1-237433884-C-G c.136C>G p.L46V Missense 2/105 - 1
1-237433884-C-T c.136C>T p.L46F Missense 2/105 - 1
1-237433887-TGT-GAG c.139_141delinsGAG p.C47E Missense 2/105 - 1
1-237433889-T-C c.141T>C p.C47= Synonymous 2/105 - 1
1-237433890-T-C c.142T>C p.F48L Missense 2/105 - 1
1-237433892-C-A c.144C>A p.F48L Missense 2/105 - 1
1-237433892-C-G c.144C>G p.F48L Missense 2/105 - 1
1-237433891-T-C c.143T>C p.F48S Missense 2/105 - 1
1-237433892-C-T c.144C>T p.F48= Synonymous 2/105 - 1
1-237433894-T-C c.146T>C p.L49S Missense 2/105 - 1
1-237433895-G-C c.147G>C p.L49F Missense 2/105 - 1
1-237433895-G-GT c.147_148insT p.E50* Nonsense 2/105 - 1
1-237433898-G-A c.150G>A p.E50= Synonymous 2/105 - 1
1-237433899-T-A c.151T>A p.S51T Missense 2/105 - 1
1-237433901-C-A c.153C>A p.S51= Synonymous 2/105 - 1
1-237433902-A-T c.154A>T p.T52S Missense 2/105 - 1
1-237433903-C-T c.155C>T p.T52I Missense 2/105 - 1
1-237433904-T-A c.156T>A p.T52= Synonymous 2/105 - 1
1-237433904-T-C c.156T>C p.T52= Synonymous 2/105 - 1
1-237433904-T-G c.156T>G p.T52= Synonymous 2/105 - 1
1-237433905-T-A c.157T>A p.S53T Missense 2/105 - 1
1-237433906-C-G c.158C>G p.S53C Missense 2/105 - 1
1-237433906-C-T c.158C>T p.S53F Missense 2/105 - 2
1-237433907-C-T c.159C>T p.S53= Synonymous 2/105 - 2
1-237433909-A-G c.161A>G p.N54S Missense 2/105 - 1
1-237433909-A-T c.161A>T p.N54I Missense 2/105 - 4
1-237433910-T-C c.162T>C p.N54= Synonymous 2/105 - 1
1-237433913-C-T c.165C>T p.S55= Synonymous 2/105 - 1
1-237433914-A-C c.166A>C p.K56Q Missense 2/105 - 2
1-237433915-A-C c.167A>C p.K56T Missense 2/105 - 2
1-237433915-AG-TC c.167_168delinsTC p.K56I Missense 2/105 - 1
1-237433916-G-A c.168G>A p.K56= Synonymous 2/105 - 2
1-237434181-G-A c.168+265G>A - IntronicSNV - 2/104 1
1-237434422-CT-C c.168+516del - IntronicDeletion - 2/104 1
1-237438791-AT-A c.168+4885del - IntronicDeletion - 2/104 1
1-237444048-T-C c.168+10132T>C - IntronicSNV - 2/104 1
1-237445099-T-A c.168+11183T>A - IntronicSNV - 2/104 2
1-237445099-T-C c.168+11183T>C - IntronicSNV - 2/104 2
1-237445327-T-A c.168+11411T>A - IntronicSNV - 2/104 1
1-237447100-G-A c.168+13184G>A - IntronicSNV - 2/104 1
1-237447637-G-A c.168+13721G>A - IntronicSNV - 2/104 1
1-237448955-G-A c.168+15039G>A - IntronicSNV - 2/104 2
1-237455696-A-G c.168+21780A>G - IntronicSNV - 2/104 1
1-237463578-G-A c.168+29662G>A - IntronicSNV - 2/104 1
1-237463692-T-A c.168+29776T>A - IntronicSNV - 2/104 1
1-237472493-A-C c.169-21685A>C - IntronicSNV - 2/104 1
1-237479040-T-A c.169-15138T>A - IntronicSNV - 2/104 1
1-237486779-C-A c.169-7399C>A - IntronicSNV - 2/104 1
1-237493854-C-A c.169-324C>A - IntronicSNV - 2/104 1
1-237493854-C-G c.169-324C>G - IntronicSNV - 2/104 1
1-237493854-C-T c.169-324C>T - IntronicSNV - 2/104 1
1-237493977-C-A c.169-201C>A - IntronicSNV - 2/104 1
1-237493977-C-G c.169-201C>G - IntronicSNV - 2/104 1
1-237493977-C-T c.169-201C>T - IntronicSNV - 2/104 1
1-237494176-AGAATGTGCCCCCAGACCTCTCCATCTGCACCTTTGTGCTGGAGCAGTCCCTCTCTGTCC-A c.169_227del p.N57Gfs*8 InFrameDeletion 3/105 - 4
1-237494179-A-C c.170A>C p.N57T Missense 3/105 - 1
1-237494179-A-G c.170A>G p.N57S Missense 3/105 - 3
1-237494184-C-T c.175C>T p.P59S Missense 3/105 - 2
1-237494185-C-T c.176C>T p.P59L Missense 3/105 - 2
1-237494186-C-T c.177C>T p.P59= Synonymous 3/105 - 1
1-237494187-C-T c.178C>T p.P60S Missense 3/105 - 5
1-237494189-A-AT c.180_181insT p.D61* Nonsense 3/105 - 1
1-237494190-G-A c.181G>A p.D61N Missense 3/105 - 2
1-237494191-A-C c.182A>C p.D61A Missense 3/105 - 1
1-237494191-A-T c.182A>T p.D61V Missense 3/105 - 1
1-237494192-C-G c.183C>G p.D61E Missense 3/105 - 1
1-237494193-C-A c.184C>A p.L62I Missense 3/105 - 4
1-237494193-C-T c.184C>T p.L62F Missense 3/105 - 12
1-237494194-T-C c.185T>C p.L62P Missense 3/105 - 1
1-237494196-T-C c.187T>C p.S63P Missense 3/105 - 1
1-237494196-TC-GG c.187_188delinsGG p.S63G Missense 3/105 - 1
1-237494199-A-G c.190A>G p.I64V Missense 3/105 - 1
1-237494201-C-A c.192C>A p.I64= Synonymous 3/105 - 1
1-237494201-C-G c.192C>G p.I64M Missense 3/105 - 1
1-237494201-C-T c.192C>T p.I64= Synonymous 3/105 - 1
1-237494202-TG-AC c.193_194delinsAC p.C65T Missense 3/105 - 1
1-237494203-G-A c.194G>A p.C65Y Missense 3/105 - 1
1-237494205-A-G c.196A>G p.T66A Missense 3/105 - 2
1-237494205-A-T c.196A>T p.T66S Missense 3/105 - 1
1-237494206-C-A c.197C>A p.T66N Missense 3/105 - 2
1-237494206-C-G c.197C>G p.T66S Missense 3/105 - 1
1-237494209-T-C c.200T>C p.F67S Missense 3/105 - 1
1-237494210-T-C c.201T>C p.F67= Synonymous 3/105 - 3
1-237494210-T-G c.201T>G p.F67L Missense 3/105 - 1
1-237494211-G-C c.202G>C p.V68L Missense 3/105 - 3
1-237494211-G-T c.202G>T p.V68L Missense 3/105 - 2
1-237494212-T-G c.203T>G p.V68G Missense 3/105 - 1
1-237494213-G-A c.204G>A p.V68= Synonymous 3/105 - 1
1-237494213-G-C c.204G>C p.V68= Synonymous 3/105 - 1
1-237494213-G-T c.204G>T p.V68= Synonymous 3/105 - 1
1-237494214-C-T c.205C>T p.L69= Synonymous 3/105 - 4
1-237494216-G-A c.207G>A p.L69= Synonymous 3/105 - 4
1-237494216-G-C c.207G>C p.L69= Synonymous 3/105 - 2
1-237494216-G-T c.207G>T p.L69= Synonymous 3/105 - 2
1-237494219-G-A c.210G>A p.E70= Synonymous 3/105 - 1
1-237494220-C-A c.211C>A p.Q71K Missense 3/105 - 1
1-237494221-A-G c.212A>G p.Q71R Missense 3/105 - 1
1-237494222-G-A c.213G>A p.Q71= Synonymous 3/105 - 1
1-237494223-T-A c.214T>A p.S72T Missense 3/105 - 1
1-237494224-C-A c.215C>A p.S72Y Missense 3/105 - 1
1-237494225-C-A c.216C>A p.S72= Synonymous 3/105 - 1
1-237494226-C-A c.217C>A p.L73I Missense 3/105 - 1
1-237494226-C-G c.217C>G p.L73V Missense 3/105 - 3
1-237494227-T-G c.218T>G p.L73R Missense 3/105 - 3
1-237494228-C-A c.219C>A p.L73= Synonymous 3/105 - 3
1-237494228-C-G c.219C>G p.L73= Synonymous 3/105 - 4
1-237494228-C-T c.219C>T p.L73= Synonymous 3/105 - 4
1-237494229-T-C c.220T>C p.S74P Missense 3/105 - 2
1-237494229-TC-AA c.220_221delinsAA p.S74N Missense 3/105 - 1
1-237494230-C-A c.221C>A p.S74Y Missense 3/105 - 1
1-237494230-C-G c.221C>G p.S74C Missense 3/105 - 4
1-237494230-C-T c.221C>T p.S74F Missense 3/105 - 2
1-237494231-T-A c.222T>A p.S74= Synonymous 3/105 - 1
1-237494231-T-C c.222T>C p.S74= Synonymous 3/105 - 1
1-237494231-T-G c.222T>G p.S74= Synonymous 3/105 - 1
1-237494232-G-A c.223G>A p.V75I Missense 3/105 - 1
1-237494232-G-T c.223G>T p.V75F Missense 3/105 - 2
1-237494233-TC-AG c.224_225delinsAG p.V75E Missense 3/105 - 1
1-237494233-T-G c.224T>G p.V75G Missense 3/105 - 1
1-237494234-C-T c.225C>T p.V75= Synonymous 3/105 - 2
1-237494235-C-T c.226C>T p.R76W Missense 3/105 - 4
1-237494236-G-A c.227G>A p.R76Q Missense 3/105 - 1
1-237494236-G-C c.227G>C p.R76P Missense 3/105 - 1
1-237494236-G-T c.227G>T p.R76L Missense 3/105 - 3
1-237494238-G-A c.229G>A p.A77T Missense 3/105 - 3
1-237494238-GCG-TGT c.229_231delinsTGT p.A77C Missense 3/105 - 1
1-237494239-C-A c.230C>A p.A77E Missense 3/105 - 1
1-237494239-CG-AC c.230_231delinsAC p.A77D Missense 3/105 - 1
1-237494239-C-T c.230C>T p.A77V Missense 3/105 - 16
1-237494240-G-A c.231G>A p.A77= Synonymous 3/105 - 10
1-237494240-G-C c.231G>C p.A77= Synonymous 3/105 - 4
1-237494240-G-T c.231G>T p.A77= Synonymous 3/105 - 6
1-237494242-T-C c.233T>C p.L78P Missense 3/105 - 1
1-237494241-C-T c.232C>T p.L78= Synonymous 3/105 - 2
1-237494243-G-A c.234G>A p.L78= Synonymous 3/105 - 1
1-237494243-G-C c.234G>C p.L78= Synonymous 3/105 - 1
1-237494243-G-T c.234G>T p.L78= Synonymous 3/105 - 1
1-237494244-C-A c.235C>A p.Q79K Missense 3/105 - 5
1-237494244-C-G c.235C>G p.Q79E Missense 3/105 - 2
1-237494244-C-T c.235C>T p.Q79* Nonsense 3/105 - 2
1-237494245-A-T c.236A>T p.Q79L Missense 3/105 - 1
1-237494246-G-T c.237G>T p.Q79H Missense 3/105 - 3
1-237494247-G-A c.238G>A p.E80K Missense 3/105 - 2
1-237494247-G-C c.238G>C p.E80Q Missense 3/105 - 1
1-237494248-A-C c.239A>C p.E80A Missense 3/105 - 2
1-237494248-A-G c.239A>G p.E80G Missense 3/105 - 1
1-237494249-G-T c.240G>T p.E80D Missense 3/105 - 2
1-237494250-A-C c.241A>C p.M81L Missense 3/105 - 3
1-237494250-A-T c.241A>T p.M81L Missense 3/105 - 3
1-237494251-T-A c.242T>A p.M81K Missense 3/105 - 1
1-237494252-G-A c.243G>A p.M81I Missense 3/105 - 4
1-237494252-G-C c.243G>C p.M81I Missense 3/105 - 3
1-237494252-G-T c.243G>T p.M81I Missense 3/105 - 5
1-237494253-C-A c.244C>A p.L82M Missense 3/105 - 3
1-237494254-T-C c.245T>C p.L82P Missense 3/105 - 1
1-237494253-C-T c.244C>T p.L82= Synonymous 3/105 - 1
1-237494255-G-A c.246G>A p.L82= Synonymous 3/105 - 1
1-237494255-G-C c.246G>C p.L82= Synonymous 3/105 - 1
1-237494255-G-T c.246G>T p.L82= Synonymous 3/105 - 1
1-237494256-G-A c.247G>A p.A83T Missense 3/105 - 1
1-237494257-C-A c.248C>A p.A83D Missense 3/105 - 1
1-237494261-C-T c.252C>T p.N84= Synonymous 3/105 - 2
1-237494262-A-G c.253A>G p.T85A Missense 3/105 - 1
1-237494262-A-T c.253A>T p.T85S Missense 3/105 - 1
1-237494263-CC-TG c.254_255delinsTG p.T85M Missense 3/105 - 1
1-237494263-C-G c.254C>G p.T85S Missense 3/105 - 1
1-237494263-C-T c.254C>T p.T85I Missense 3/105 - 1
1-237494262-A-AC c.255dup p.V86Rfs*9 Frameshift 3/105 - 1
1-237494265-G-A c.256G>A p.V86M Missense 3/105 - 10
1-237494265-G-C c.256G>C p.V86L Missense 3/105 - 1
1-237494265-GTG-ATC c.256_258delinsATC p.V86I Missense 3/105 - 2
1-237494267-G-A c.258G>A p.V86= Synonymous 3/105 - 1
1-237494268-G-A c.259G>A p.E87K Missense 3/105 - 2
1-237494269-A-G c.260A>G p.E87G Missense 3/105 - 2
1-237494269-A-T c.260A>T p.E87V Missense 3/105 - 1
1-237494270-G-C c.261G>C p.E87D Missense 3/105 - 1
1-237494270-G-T c.261G>T p.E87D Missense 3/105 - 2
1-237494272-A-C c.263A>C p.K88T Missense 3/105 - 1
1-237494273-A-C c.264A>C p.K88N Missense 3/105 - 2
1-237494273-A-G c.264A>G p.K88= Synonymous 3/105 - 2
1-237494273-A-T c.264A>T p.K88N Missense 3/105 - 3
1-237494274-T-A c.265T>A p.S89T Missense 3/105 - 1
1-237494274-TCA-AAC c.265_267delinsAAC p.S89N Missense 3/105 - 1
1-237494275-CA-TT c.266_267delinsTT p.S89F Missense 3/105 - 1
1-237494275-C-T c.266C>T p.S89L Missense 3/105 - 2
1-237494276-A-C c.267A>C p.S89= Synonymous 3/105 - 1
1-237494276-A-G c.267A>G p.S89= Synonymous 3/105 - 1
1-237494276-A-T c.267A>T p.S89= Synonymous 3/105 - 1
1-237494277-G-A c.268G>A p.E90K Missense 3/105 - 4
1-237494277-G-T c.268G>T p.E90* Nonsense 3/105 - 1
1-237494280-G-A c.271G>A p.G91R Missense 3/105 - 2
1-237494280-G-C c.271G>C p.G91R Missense 3/105 - 1
1-237494281-G-A c.272G>A p.G91E Missense 3/105 - 2
1-237494582-T-C c.273+300T>C - IntronicSNV - 3/104 1
1-237495004-AC-A c.273+722del - IntronicDeletion - 3/104 2
1-237495073-CA-C c.273+794del - IntronicDeletion - 3/104 1
1-237495105-GC-G c.273+823del - IntronicDeletion - 3/104 1
1-237496092-G-A c.273+1810G>A - IntronicSNV - 3/104 1
1-237496811-G-A c.273+2529G>A - IntronicSNV - 3/104 1
1-237496824-G-A c.273+2542G>A - IntronicSNV - 3/104 1
1-237496843-G-T c.273+2561G>T - IntronicSNV - 3/104 1
1-237496876-T-C c.273+2594T>C - IntronicSNV - 3/104 1
1-237496910-C-A c.273+2628C>A - IntronicSNV - 3/104 1
1-237496987-T-C c.273+2705T>C - IntronicSNV - 3/104 1
1-237497252-A-G c.273+2970A>G - IntronicSNV - 3/104 1
1-237497740-A-C c.273+3458A>C - IntronicSNV - 3/104 1
1-237497740-A-T c.273+3458A>T - IntronicSNV - 3/104 1
1-237499859-TA-T c.273+5583del - IntronicDeletion - 3/104 1
1-237501780-A-C c.273+7498A>C - IntronicSNV - 3/104 1
1-237501780-A-T c.273+7498A>T - IntronicSNV - 3/104 1
1-237501779-TA-T c.273+7504del - IntronicDeletion - 3/104 1
1-237504649-A-T c.273+10367A>T - IntronicSNV - 3/104 1
1-237504708-A-G c.273+10426A>G - IntronicSNV - 3/104 2
1-237504759-T-C c.273+10477T>C - IntronicSNV - 3/104 2
1-237505104-A-AT c.273+10824dup - IntronicInsertion - 3/104 2
1-237506608-C-T c.273+12326C>T - IntronicSNV - 3/104 1
1-237508935-CA-C c.274-10330del - IntronicDeletion - 3/104 1
1-237510914-C-T c.274-8351C>T - IntronicSNV - 3/104 1
1-237511541-C-G c.274-7724C>G - IntronicSNV - 3/104 1
1-237516073-T-C c.274-3192T>C - IntronicSNV - 3/104 2
1-237516180-A-C c.274-3085A>C - IntronicSNV - 3/104 1
1-237516455-A-G c.274-2810A>G - IntronicSNV - 3/104 1
1-237519137-T-A c.274-128T>A - IntronicSNV - 3/104 2
1-237519165-G-A c.274-100G>A - IntronicSNV - 3/104 1
1-237519165-G-T c.274-100G>T - IntronicSNV - 3/104 1
1-237519266-A-G c.275A>G p.Q92R Missense 4/105 - 1
1-237519267-A-G c.276A>G p.Q92= Synonymous 4/105 - 1
1-237519268-G-C c.277G>C p.V93L Missense 4/105 - 1
1-237519269-T-A c.278T>A p.V93D Missense 4/105 - 2
1-237519271-G-C c.280G>C p.D94H Missense 4/105 - 1
1-237519272-A-C c.281A>C p.D94A Missense 4/105 - 1
1-237519274-G-C c.283G>C p.V95L Missense 4/105 - 1
1-237519274-G-T c.283G>T p.V95L Missense 4/105 - 2
1-237519275-T-C c.284T>C p.V95A Missense 4/105 - 1
1-237519277-G-T c.286G>T p.E96* Nonsense 4/105 - 1
1-237519282-A-C c.291A>C p.K97N Missense 4/105 - 1
1-237519282-A-T c.291A>T p.K97N Missense 4/105 - 1
1-237519282-A-AT c.292dup p.W98Lfs*29 SpliceDonorInsertion 4/105 - 1
1-237519283-T-C c.292T>C p.W98R Missense 4/105 - 1
1-237519284-G-A c.293G>A p.W98* Nonsense 4/105 - 2
1-237519284-G-T c.293G>T p.W98L Missense 4/105 - 1
1-237519285-G-A c.294G>A p.W98* Nonsense 4/105 - 3
1-237519287-T-C c.294+2T>C - IntronicSNV - 4/104 1
1-237519305-T-G c.294+20T>G - IntronicSNV - 4/104 1
1-237519372-T-A c.294+87T>A - IntronicSNV - 4/104 1
1-237520359-T-A c.294+1074T>A - IntronicSNV - 4/104 1
1-237520490-C-G c.294+1205C>G - IntronicSNV - 4/104 1
1-237522907-G-T c.294+3622G>T - IntronicSNV - 4/104 1
1-237526276-T-C c.295-1382T>C - IntronicSNV - 4/104 1
1-237527551-A-G c.295-107A>G - IntronicSNV - 4/104 2
1-237527587-A-T c.295-71A>T - IntronicSNV - 4/104 1
1-237527658-A-C c.295A>C p.K99Q Missense 5/105 - 2
1-237527660-A-G c.297A>G p.K99= Synonymous 5/105 - 1
1-237527662-T-A c.299T>A p.F100Y Missense 5/105 - 2
1-237527666-G-A c.303G>A p.M101I Missense 5/105 - 1
1-237527669-G-A c.306G>A p.M102I Missense 5/105 - 1
1-237527669-G-T c.306G>T p.M102I Missense 5/105 - 2
1-237527670-A-G c.307A>G p.K103E Missense 5/105 - 1
1-237527671-A-T c.308A>T p.K103M Missense 5/105 - 1
1-237527672-G-A c.309G>A p.K103= Synonymous 5/105 - 2
1-237527672-G-C c.309G>C p.K103N Missense 5/105 - 1
1-237527672-G-T c.309G>T p.K103N Missense 5/105 - 1
1-237527679-C-T c.309+7C>T - IntronicSNV - 5/104 1
1-237527686-A-G c.309+14A>G - IntronicSNV - 5/104 1
1-237527857-G-A c.309+185G>A - IntronicSNV - 5/104 1
1-237531523-T-A c.310-1311T>A - IntronicSNV - 5/104 1
1-237532834-A-G c.310A>G p.T104A Missense 6/105 - 1
1-237532835-CT-AG c.311_312inv p.T104K Missense 6/105 - 1
1-237532835-CT-TG c.311_312delinsTG p.T104M Missense 6/105 - 1
1-237532837-G-A c.313G>A p.A105T Missense 6/105 - 2
1-237532838-C-A c.314C>A p.A105D Missense 6/105 - 1
1-237532838-C-G c.314C>G p.A105G Missense 6/105 - 1
1-237532838-C-T c.314C>T p.A105V Missense 6/105 - 1
1-237532839-T-A c.315T>A p.A105= Synonymous 6/105 - 1
1-237532839-T-C c.315T>C p.A105= Synonymous 6/105 - 1
1-237532839-T-G c.315T>G p.A105= Synonymous 6/105 - 1
1-237532840-C-T c.316C>T p.Q106* Nonsense 6/105 - 1
1-237532843-G-A c.319G>A p.G107S Missense 6/105 - 1
1-237532843-G-C c.319G>C p.G107R Missense 6/105 - 1
1-237532844-G-T c.320G>T p.G107V Missense 6/105 - 2
1-237532845-T-A c.321T>A p.G107= Synonymous 6/105 - 1
1-237532845-T-C c.321T>C p.G107= Synonymous 6/105 - 1
1-237532845-T-G c.321T>G p.G107= Synonymous 6/105 - 1
1-237532846-G-A c.322G>A p.G108S Missense 6/105 - 2
1-237532846-G-C c.322G>C p.G108R Missense 6/105 - 1
1-237532846-G-T c.322G>T p.G108C Missense 6/105 - 1
1-237532847-G-T c.323G>T p.G108V Missense 6/105 - 1
1-237532849-G-A c.325G>A p.G109S Missense 6/105 - 1
1-237532849-G-C c.325G>C p.G109R Missense 6/105 - 1
1-237532850-G-A c.326G>A p.G109D Missense 6/105 - 1
1-237532850-G-C c.326G>C p.G109A Missense 6/105 - 1
1-237532850-GT-AG c.326_327delinsAG p.G109E Missense 6/105 - 1
1-237532852-C-A c.328C>A p.H110N Missense 6/105 - 2
1-237532852-C-T c.328C>T p.H110Y Missense 6/105 - 3
1-237532853-A-C c.329A>C p.H110P Missense 6/105 - 1
1-237532854-T-A c.330T>A p.H110Q Missense 6/105 - 2
1-237532854-T-G c.330T>G p.H110Q Missense 6/105 - 2
1-237532855-C-T c.331C>T p.R111* Nonsense 6/105 - 2
1-237532856-G-A c.332G>A p.R111Q Missense 6/105 - 3
1-237532856-G-T c.332G>T p.R111L Missense 6/105 - 1
1-237532858-A-AC c.335dup p.L113Tfs*14 Frameshift 6/105 - 1
1-237532859-C-A c.335C>A p.T112K Missense 6/105 - 1
1-237532859-C-G c.335C>G p.T112R Missense 6/105 - 1
1-237532861-C-G c.337C>G p.L113V Missense 6/105 - 1
1-237532861-CT-AG c.337_338inv p.L113S Missense 6/105 - 1
1-237532862-T-C c.338T>C p.L113P Missense 6/105 - 1
1-237532863-C-A c.339C>A p.L113= Synonymous 6/105 - 4
1-237532863-C-G c.339C>G p.L113= Synonymous 6/105 - 4
1-237532863-C-T c.339C>T p.L113= Synonymous 6/105 - 5
1-237532864-C-G c.340C>G p.L114V Missense 6/105 - 1
1-237532865-T-A c.341T>A p.L114H Missense 6/105 - 1
1-237532865-T-C c.341T>C p.L114P Missense 6/105 - 1
1-237532867-T-A c.343T>A p.Y115N Missense 6/105 - 1
1-237532867-T-C c.343T>C p.Y115H Missense 6/105 - 1
1-237532868-A-C c.344A>C p.Y115S Missense 6/105 - 1
1-237532868-A-G c.344A>G p.Y115C Missense 6/105 - 1
1-237532869-C-T c.345C>T p.Y115= Synonymous 6/105 - 2
1-237532870-G-A c.346G>A p.G116R Missense 6/105 - 5
1-237532870-G-C c.346G>C p.G116R Missense 6/105 - 2
1-237532871-G-A c.347G>A p.G116E Missense 6/105 - 1
1-237532871-GA-AC c.347_348delinsAC p.G116D Missense 6/105 - 1
1-237532872-A-G c.348A>G p.G116= Synonymous 6/105 - 1
1-237532875-T-A c.351T>A p.H117Q Missense 6/105 - 1
1-237532875-T-C c.351T>C p.H117= Synonymous 6/105 - 1
1-237532875-T-G c.351T>G p.H117Q Missense 6/105 - 1
1-237532876-G-T c.352G>T p.A118S Missense 6/105 - 1
1-237532877-C-T c.353C>T p.A118V Missense 6/105 - 4
1-237532879-A-G c.355A>G p.I119V Missense 6/105 - 1
1-237532879-ATA-TTT c.355_357delinsTTT p.I119F Missense 6/105 - 1
1-237532880-T-C c.356T>C p.I119T Missense 6/105 - 1
1-237532880-T-G c.356T>G p.I119R Missense 6/105 - 1
1-237532881-A-G c.357A>G p.I119M Missense 6/105 - 1
1-237532882-T-C c.358T>C p.L120= Synonymous 6/105 - 1
1-237532884-G-A c.360G>A p.L120= Synonymous 6/105 - 1
1-237532883-T-A c.359T>A p.L120* Nonsense 6/105 - 1
1-237532884-G-T c.360G>T p.L120F Missense 6/105 - 1
1-237532885-C-T c.361C>T p.L121= Synonymous 6/105 - 1
1-237532888-C-T c.364C>T p.R122C Missense 6/105 - 5
1-237532888-GC-G c.364del p.R122Afs*62 Frameshift 6/105 - 1
1-237532889-G-A c.365G>A p.R122H Missense 6/105 - 14
1-237532889-G-T c.365G>T p.R122L Missense 6/105 - 1
1-237532890-C-T c.366C>T p.R122= Synonymous 6/105 - 1
1-237532891-C-A c.367C>A p.H123N Missense 6/105 - 1
1-237532891-C-T c.367C>T p.H123Y Missense 6/105 - 1
1-237532893-T-C c.369T>C p.H123= Synonymous 6/105 - 1
1-237532894-T-A c.370T>A p.S124T Missense 6/105 - 2
1-237532894-TC-GG c.370_371delinsGG p.S124G Missense 6/105 - 1
1-237532895-C-T c.371C>T p.S124F Missense 6/105 - 1
1-237532896-C-A c.372C>A p.S124= Synonymous 6/105 - 1
1-237532896-C-G c.372C>G p.S124= Synonymous 6/105 - 1
1-237532896-C-T c.372C>T p.S124= Synonymous 6/105 - 1
1-237532897-T-C c.373T>C p.Y125H Missense 6/105 - 1
1-237532899-T-C c.375T>C p.Y125= Synonymous 6/105 - 1
1-237532900-A-G c.376A>G p.S126G Missense 6/105 - 1
1-237532902-T-A c.378T>A p.S126R Missense 6/105 - 2
1-237532904-G-C c.380G>C p.G127A Missense 6/105 - 1
1-237532905-C-A c.381C>A p.G127= Synonymous 6/105 - 1
1-237532906-A-G c.382A>G p.M128V Missense 6/105 - 1
1-237532907-T-A c.383T>A p.M128K Missense 6/105 - 1
1-237532907-T-C c.383T>C p.M128T Missense 6/105 - 1
1-237532908-G-A c.384G>A p.M128I Missense 6/105 - 3
1-237532908-G-C c.384G>C p.M128I Missense 6/105 - 1
1-237532908-G-T c.384G>T p.M128I Missense 6/105 - 1
1-237532958-G-A c.384+50G>A - IntronicSNV - 6/104 1
1-237533150-TAG-T c.384+245_384+246del - IntronicDeletion - 6/104 1
1-237535674-G-T c.385-2343G>T - IntronicSNV - 6/104 1
1-237536584-T-G c.385-1433T>G - IntronicSNV - 6/104 1
1-237538017-T-C c.385T>C p.Y129H Missense 7/105 - 1
1-237538019-T-A c.387T>A p.Y129* Nonsense 7/105 - 1
1-237538019-T-C c.387T>C p.Y129= Synonymous 7/105 - 1
1-237538019-T-G c.387T>G p.Y129* Nonsense 7/105 - 1
1-237538020-C-A c.388C>A p.L130M Missense 7/105 - 1
1-237538020-C-T c.388C>T p.L130= Synonymous 7/105 - 1
1-237538022-G-C c.390G>C p.L130= Synonymous 7/105 - 1
1-237538023-T-C c.391T>C p.C131R Missense 7/105 - 1
1-237538023-T-G c.391T>G p.C131G Missense 7/105 - 1
1-237538023-TG-AC c.391_392delinsAC p.C131T Missense 7/105 - 1
1-237538027-G-T c.395G>T p.C132F Missense 7/105 - 1
1-237538030-T-C c.398T>C p.L133P Missense 7/105 - 1
1-237538031-G-A c.399G>A p.L133= Synonymous 7/105 - 2
1-237538032-T-C c.400T>C p.S134P Missense 7/105 - 1
1-237538032-TC-AA c.400_401delinsAA p.S134N Missense 7/105 - 1
1-237538033-C-G c.401C>G p.S134C Missense 7/105 - 2
1-237538033-C-T c.401C>T p.S134F Missense 7/105 - 1
1-237538036-C-T c.404C>T p.T135I Missense 7/105 - 3
1-237538038-T-A c.406T>A p.S136T Missense 7/105 - 1
1-237538038-TC-AT c.406_407delinsAT p.S136I Missense 7/105 - 1
1-237538038-TC-CT c.406_407delinsCT p.S136L Missense 7/105 - 1
1-237538038-TC-GG c.406_407delinsGG p.S136G Missense 7/105 - 1
1-237538039-C-T c.407C>T p.S136F Missense 7/105 - 1
1-237538040-C-G c.408C>G p.S136= Synonymous 7/105 - 1
1-237538041-C-A c.409C>A p.R137= Synonymous 7/105 - 3
1-237538041-CGG-AGC c.409_411delinsAGC p.R137S Missense 7/105 - 1
1-237538041-C-T c.409C>T p.R137W Missense 7/105 - 5
1-237538043-G-A c.411G>A p.R137= Synonymous 7/105 - 2
1-237538043-G-C c.411G>C p.R137= Synonymous 7/105 - 2
1-237538043-G-T c.411G>T p.R137= Synonymous 7/105 - 2
1-237538042-G-A c.410G>A p.R137Q Missense 7/105 - 1
1-237538041-CG-C c.411del p.S138Lfs*46 Frameshift 7/105 - 1
1-237538044-TC-CT c.412_413delinsCT p.S138L Missense 7/105 - 1
1-237538044-T-G c.412T>G p.S138A Missense 7/105 - 1
1-237538045-C-T c.413C>T p.S138F Missense 7/105 - 2
1-237538046-T-A c.414T>A p.S138= Synonymous 7/105 - 3
1-237538046-T-C c.414T>C p.S138= Synonymous 7/105 - 4
1-237538046-T-G c.414T>G p.S138= Synonymous 7/105 - 2
1-237538048-C-A c.416C>A p.S139* Nonsense 7/105 - 1
1-237538048-C-T c.416C>T p.S139L Missense 7/105 - 2
1-237538050-A-T c.418A>T p.T140S Missense 7/105 - 1
1-237538051-C-A c.419C>A p.T140N Missense 7/105 - 1
1-237538051-C-T c.419C>T p.T140I Missense 7/105 - 2
1-237538053-G-A c.421G>A p.D141N Missense 7/105 - 1
1-237538054-A-T c.422A>T p.D141V Missense 7/105 - 1
1-237538058-G-C c.426G>C p.K142N Missense 7/105 - 2
1-237538058-G-T c.426G>T p.K142N Missense 7/105 - 2
1-237538059-C-G c.427C>G p.L143V Missense 7/105 - 1
1-237538059-C-T c.427C>T p.L143= Synonymous 7/105 - 1
1-237538061-G-A c.429G>A p.L143= Synonymous 7/105 - 1
1-237538061-G-C c.429G>C p.L143= Synonymous 7/105 - 1
1-237538061-G-T c.429G>T p.L143= Synonymous 7/105 - 1
1-237538062-G-A c.430G>A p.A144T Missense 7/105 - 1
1-237538062-G-T c.430G>T p.A144S Missense 7/105 - 1
1-237538063-C-G c.431C>G p.A144G Missense 7/105 - 1
1-237538063-C-T c.431C>T p.A144V Missense 7/105 - 2
1-237538064-T-C c.432T>C p.A144= Synonymous 7/105 - 1
1-237538066-T-G c.434T>G p.F145C Missense 7/105 - 2
1-237538068-G-A c.436G>A p.D146N Missense 7/105 - 1
1-237538068-G-C c.436G>C p.D146H Missense 7/105 - 1
1-237538071-GTT-ATG c.439_441delinsATG p.V147M Missense 7/105 - 1
1-237538073-T-C c.441T>C p.V147= Synonymous 7/105 - 1
1-237538074-G-A c.442G>A p.G148S Missense 7/105 - 1
1-237538074-G-C c.442G>C p.G148R Missense 7/105 - 1
1-237538075-G-C c.443G>C p.G148A Missense 7/105 - 2
1-237538075-GC-AG c.443_444delinsAG p.G148E Missense 7/105 - 1
1-237538080-C-A c.448C>A p.Q150K Missense 7/105 - 1
1-237538083-G-A c.451G>A p.E151K Missense 7/105 - 3
1-237538083-G-T c.451G>T p.E151* Nonsense 7/105 - 2
1-237538085-G-A c.453G>A p.E151= Synonymous 7/105 - 3
1-237538085-G-T c.453G>T p.E151D Missense 7/105 - 1
1-237538086-G-A c.454G>A p.D152N Missense 7/105 - 1
1-237538087-A-G c.455A>G p.D152G Missense 7/105 - 1
1-237538088-C-G c.456C>G p.D152E Missense 7/105 - 1
1-237538089-A-G c.457A>G p.T153A Missense 7/105 - 1
1-237538090-C-A c.458C>A p.T153N Missense 7/105 - 1
1-237538090-C-T c.458C>T p.T153I Missense 7/105 - 4
1-237538091-C-T c.459C>T p.T153= Synonymous 7/105 - 1
1-237538093-CA-TG c.461_462inv p.T154M Missense 7/105 - 1
1-237538093-C-G c.461C>G p.T154R Missense 7/105 - 1
1-237538094-A-C c.462A>C p.T154= Synonymous 7/105 - 1
1-237538094-A-G c.462A>G p.T154= Synonymous 7/105 - 1
1-237538094-A-T c.462A>T p.T154= Synonymous 7/105 - 2
1-237538098-A-T c.463+3A>T - IntronicSNV - 7/104 1
1-237538109-G-A c.463+14G>A - IntronicSNV - 7/104 2
1-237538114-G-A c.463+19G>A - IntronicSNV - 7/104 1
1-237539112-G-A c.463+1017G>A - IntronicSNV - 7/104 1
1-237539353-A-G c.463+1258A>G - IntronicSNV - 7/104 1
1-237540615-A-C c.464-8A>C - IntronicSNV - 7/104 13
1-237540615-A-G c.464-8A>G - IntronicSNV - 7/104 13
1-237540615-A-T c.464-8A>T - IntronicSNV - 7/104 13
1-237540623-G-C c.464G>C p.G155A Missense 8/105 - 1
1-237540624-G-A c.465G>A p.G155= Synonymous 8/105 - 2
1-237540624-G-C c.465G>C p.G155= Synonymous 8/105 - 1
1-237540624-G-T c.465G>T p.G155= Synonymous 8/105 - 2
1-237540628-GGCT-G c.469_471del p.A157del InFrameDeletion 8/105 - 1
1-237540628-G-T c.469G>T p.A157S Missense 8/105 - 2
1-237540629-C-G c.470C>G p.A157G Missense 8/105 - 1
1-237540630-T-A c.471T>A p.A157= Synonymous 8/105 - 1
1-237540630-T-C c.471T>C p.A157= Synonymous 8/105 - 1
1-237540630-T-G c.471T>G p.A157= Synonymous 8/105 - 1
1-237540631-T-C c.472T>C p.C158R Missense 8/105 - 1
1-237540635-G-A c.476G>A p.W159* Nonsense 8/105 - 1
1-237540635-G-T c.476G>T p.W159L Missense 8/105 - 1
1-237540638-G-A c.479G>A p.W160* Nonsense 8/105 - 3
1-237540639-G-A c.480G>A p.W160* Nonsense 8/105 - 2
1-237540639-G-T c.480G>T p.W160C Missense 8/105 - 2
1-237540640-A-G c.481A>G p.T161A Missense 8/105 - 1
1-237540643-A-G c.484A>G p.I162V Missense 8/105 - 1
1-237540645-A-G c.486A>G p.I162M Missense 8/105 - 1
1-237540649-C-A c.490C>A p.P164T Missense 8/105 - 4
1-237540649-C-T c.490C>T p.P164S Missense 8/105 - 10
1-237540650-C-T c.491C>T p.P164L Missense 8/105 - 1
1-237540653-C-A c.494C>A p.A165D Missense 8/105 - 7
1-237540653-C-T c.494C>T p.A165V Missense 8/105 - 1
1-237540654-C-A c.495C>A p.A165= Synonymous 8/105 - 2
1-237540654-C-G c.495C>G p.A165= Synonymous 8/105 - 2
1-237540654-C-T c.495C>T p.A165= Synonymous 8/105 - 3
1-237540655-T-C c.496T>C p.S166P Missense 8/105 - 1
1-237540656-C-A c.497C>A p.S166Y Missense 8/105 - 1
1-237540656-C-G c.497C>G p.S166C Missense 8/105 - 3
1-237540657-T-A c.498T>A p.S166= Synonymous 8/105 - 1
1-237540657-T-C c.498T>C p.S166= Synonymous 8/105 - 1
1-237540657-T-G c.498T>G p.S166= Synonymous 8/105 - 1
1-237540658-AA-GC c.499_500delinsGC p.K167A Missense 8/105 - 1
1-237540658-A-G c.499A>G p.K167E Missense 8/105 - 3
1-237540660-G-A c.501G>A p.K167= Synonymous 8/105 - 1
1-237540661-CA-GC c.502_503delinsGC p.Q168A Missense 8/105 - 1
1-237540661-C-G c.502C>G p.Q168E Missense 8/105 - 1
1-237540662-A-C c.503A>C p.Q168P Missense 8/105 - 1
1-237540662-A-G c.503A>G p.Q168R Missense 8/105 - 1
1-237540662-A-AG c.504dup p.R169Afs*12 Frameshift 8/105 - 1
1-237540664-C-A c.505C>A p.R169= Synonymous 8/105 - 1
1-237540664-C-T c.505C>T p.R169* Nonsense 8/105 - 4
1-237540666-A-C c.507A>C p.R169= Synonymous 8/105 - 1
1-237540666-A-G c.507A>G p.R169= Synonymous 8/105 - 1
1-237540666-A-T c.507A>T p.R169= Synonymous 8/105 - 1
1-237540665-G-A c.506G>A p.R169Q Missense 8/105 - 22
1-237540665-G-T c.506G>T p.R169L Missense 8/105 - 9
1-237540667-T-C c.508T>C p.S170P Missense 8/105 - 1
1-237540668-CA-GT c.509_510delinsGT p.S170C Missense 8/105 - 1
1-237540668-C-G c.509C>G p.S170* Nonsense 8/105 - 1
1-237540668-C-T c.509C>T p.S170L Missense 8/105 - 1
1-237540670-G-A c.511G>A p.E171K Missense 8/105 - 2
1-237540668-CAGA-C c.512_514del p.E171del InFrameDeletion 8/105 - 1
1-237540674-G-A c.515G>A p.G172E Missense 8/105 - 8
1-237540674-G-C c.515G>C p.G172A Missense 8/105 - 3
1-237540675-A-C c.516A>C p.G172= Synonymous 8/105 - 1
1-237540675-A-G c.516A>G p.G172= Synonymous 8/105 - 1
1-237540675-A-T c.516A>T p.G172= Synonymous 8/105 - 1
1-237540676-AG-A c.517del p.E173Kfs*11 Frameshift 8/105 - 2
1-237540677-A-C c.518A>C p.E173A Missense 8/105 - 2
1-237540677-A-G c.518A>G p.E173G Missense 8/105 - 2
1-237540679-AA-GC c.520_521delinsGC p.K174A Missense 8/105 - 1
1-237540681-A-G c.522A>G p.K174= Synonymous 8/105 - 2
1-237540684-A-G c.525A>G p.V175= Synonymous 8/105 - 1
1-237540685-C-G c.526C>G p.R176G Missense 8/105 - 3
1-237540685-CGA-TGT c.526_528delinsTGT p.R176C Missense 8/105 - 1
1-237540685-C-T c.526C>T p.R176* Nonsense 8/105 - 2
1-237540686-G-A c.527G>A p.R176Q Missense 8/105 - 68
1-237540686-GA-AT c.527_528delinsAT p.R176H Missense 8/105 - 1
1-237540686-G-T c.527G>T p.R176L Missense 8/105 - 5
1-237540688-G-A c.529G>A p.V177I Missense 8/105 - 1
1-237540688-G-C c.529G>C p.V177L Missense 8/105 - 1
1-237540688-GTT-ATG c.529_531delinsATG p.V177M Missense 8/105 - 1
1-237540689-T-C c.530T>C p.V177A Missense 8/105 - 5
1-237540691-G-C c.532G>C p.G178R Missense 8/105 - 1
1-237540691-G-T c.532G>T p.G178* Nonsense 8/105 - 1
1-237540692-G-A c.533G>A p.G178E Missense 8/105 - 1
1-237540692-G-C c.533G>C p.G178A Missense 8/105 - 6
1-237540692-G-T c.533G>T p.G178V Missense 8/105 - 1
1-237540693-A-C c.534A>C p.G178= Synonymous 8/105 - 2
1-237540693-A-G c.534A>G p.G178= Synonymous 8/105 - 5
1-237540693-A-T c.534A>T p.G178= Synonymous 8/105 - 2
1-237540694-G-A c.535G>A p.D179N Missense 8/105 - 4
1-237540694-G-T c.535G>T p.D179Y Missense 8/105 - 2
1-237540695-A-C c.536A>C p.D179A Missense 8/105 - 1
1-237540697-G-T c.538G>T p.D180Y Missense 8/105 - 2
1-237540698-A-C c.539A>C p.D180A Missense 8/105 - 1
1-237540700-C-G c.541C>G p.L181V Missense 8/105 - 3
1-237540702-C-A c.543C>A p.L181= Synonymous 8/105 - 1
1-237540702-C-G c.543C>G p.L181= Synonymous 8/105 - 1
1-237540702-C-T c.543C>T p.L181= Synonymous 8/105 - 1
1-237540703-A-G c.544A>G p.I182V Missense 8/105 - 1
1-237540705-C-A c.546C>A p.I182= Synonymous 8/105 - 1
1-237540705-C-T c.546C>T p.I182= Synonymous 8/105 - 1
1-237540706-T-A c.547T>A p.L183I Missense 8/105 - 1
1-237540706-T-C c.547T>C p.L183= Synonymous 8/105 - 1
1-237540708-A-G c.549A>G p.L183= Synonymous 8/105 - 1
1-237540709-GTT-ATG c.550_552delinsATG p.V184M Missense 8/105 - 1
1-237540712-A-G c.553A>G p.S185G Missense 8/105 - 2
1-237540713-G-C c.554G>C p.S185T Missense 8/105 - 1
1-237540712-A-C c.553A>C p.S185R Missense 8/105 - 1
1-237540714-C-A c.555C>A p.S185R Missense 8/105 - 1
1-237540714-C-G c.555C>G p.S185R Missense 8/105 - 3
1-237540714-C-T c.555C>T p.S185= Synonymous 8/105 - 3
1-237540715-G-A c.556G>A p.V186M Missense 8/105 - 12
1-237540715-G-T c.556G>T p.V186L Missense 8/105 - 1
1-237540717-G-A c.558G>A p.V186= Synonymous 8/105 - 1
1-237540718-TC-AA c.559_560delinsAA p.S187N Missense 8/105 - 1
1-237540718-TC-CG c.559_560delinsCG p.S187R Missense 8/105 - 1
1-237540719-C-T c.560C>T p.S187F Missense 8/105 - 2
1-237540721-T-C c.562T>C p.S188P Missense 8/105 - 1
1-237540721-TC-CG c.562_563delinsCG p.S188R Missense 8/105 - 1
1-237540722-C-T c.563C>T p.S188F Missense 8/105 - 2
1-237540724-G-T c.565G>T p.E189* Nonsense 8/105 - 1
1-237540725-A-C c.566A>C p.E189A Missense 8/105 - 1
1-237540725-A-G c.566A>G p.E189G Missense 8/105 - 1
1-237540726-A-C c.567A>C p.E189D Missense 8/105 - 4
1-237540726-A-T c.567A>T p.E189D Missense 8/105 - 4
1-237540727-A-G c.568A>G p.R190G Missense 8/105 - 3
1-237540727-AG-CA c.568_569delinsCA p.R190Q Missense 8/105 - 1
1-237540727-AGG-CAT c.568_570delinsCAT p.R190H Missense 8/105 - 1
1-237540728-G-A c.569G>A p.R190K Missense 8/105 - 2
1-237540727-A-C c.568A>C p.R190= Synonymous 8/105 - 2
1-237540729-G-A c.570G>A p.R190= Synonymous 8/105 - 2
1-237540730-T-G c.571T>G p.Y191D Missense 8/105 - 1
1-237540733-T-G c.574T>G p.L192V Missense 8/105 - 1
1-237540733-TTG-ATC c.574_576delinsATC p.L192I Missense 8/105 - 1
1-237540734-T-A c.575T>A p.L192* Nonsense 8/105 - 1
1-237540734-T-G c.575T>G p.L192W Missense 8/105 - 1
1-237540742-G-C c.576+7G>C - IntronicSNV - 8/104 1
1-237540802-T-G c.576+67T>G - IntronicSNV - 8/104 2
1-237540873-TA-T c.576+138del - IntronicDeletion - 8/104 1
1-237544844-G-A c.576+4109G>A - IntronicSNV - 8/104 1
1-237544933-G-C c.576+4198G>C - IntronicSNV - 8/104 1
1-237545643-C-T c.576+4908C>T - IntronicSNV - 8/104 1
1-237547223-A-G c.577-3358A>G - IntronicSNV - 8/104 1
1-237548424-C-T c.577-2157C>T - IntronicSNV - 8/104 1
1-237550582-A-G c.578A>G p.H193R Missense 9/105 - 1
1-237550583-C-G c.579C>G p.H193Q Missense 9/105 - 1
1-237550587-T-C c.583T>C p.S195P Missense 9/105 - 1
1-237550587-TC-CT c.583_584delinsCT p.S195L Missense 9/105 - 1
1-237550589-T-A c.585T>A p.S195= Synonymous 9/105 - 1
1-237550589-T-C c.585T>C p.S195= Synonymous 9/105 - 1
1-237550589-T-G c.585T>G p.S195= Synonymous 9/105 - 1
1-237550593-G-A c.589G>A p.G197S Missense 9/105 - 1
1-237550593-G-C c.589G>C p.G197R Missense 9/105 - 1
1-237550594-G-A c.590G>A p.G197D Missense 9/105 - 4
1-237550595-C-A c.591C>A p.G197= Synonymous 9/105 - 2
1-237550595-C-G c.591C>G p.G197= Synonymous 9/105 - 2
1-237550595-C-T c.591C>T p.G197= Synonymous 9/105 - 3
1-237550598-C-T c.594C>T p.N198= Synonymous 9/105 - 8
1-237550599-G-A c.595G>A p.G199S Missense 9/105 - 3
1-237550600-G-T c.596G>T p.G199V Missense 9/105 - 1
1-237550603-G-A c.599G>A p.S200N Missense 9/105 - 1
1-237550604-C-T c.600C>T p.S200= Synonymous 9/105 - 1
1-237550607-A-G c.603A>G p.L201= Synonymous 9/105 - 2
1-237550607-A-T c.603A>T p.L201F Missense 9/105 - 1
1-237550608-C-T c.604C>T p.H202Y Missense 9/105 - 1
1-237550610-C-T c.606C>T p.H202= Synonymous 9/105 - 3
1-237550611-G-A c.607G>A p.V203M Missense 9/105 - 2
1-237550612-T-G c.608T>G p.V203G Missense 9/105 - 1
1-237550614-G-A c.610G>A p.D204N Missense 9/105 - 1
1-237550617-G-A c.613G>A p.A205T Missense 9/105 - 1
1-237550619-C-A c.615C>A p.A205= Synonymous 9/105 - 3
1-237550619-C-G c.615C>G p.A205= Synonymous 9/105 - 3
1-237550619-C-T c.615C>T p.A205= Synonymous 9/105 - 5
1-237550620-G-A c.616G>A p.A206T Missense 9/105 - 5
1-237550620-G-C c.616G>C p.A206P Missense 9/105 - 1
1-237550622-T-A c.618T>A p.A206= Synonymous 9/105 - 3
1-237550622-T-C c.618T>C p.A206= Synonymous 9/105 - 3
1-237550622-T-G c.618T>G p.A206= Synonymous 9/105 - 3
1-237550626-C-A c.622C>A p.Q208K Missense 9/105 - 2
1-237550626-C-T c.622C>T p.Q208* Nonsense 9/105 - 1
1-237550627-A-C c.623A>C p.Q208P Missense 9/105 - 1
1-237550627-A-G c.623A>G p.Q208R Missense 9/105 - 3
1-237550628-G-A c.624G>A p.Q208= Synonymous 9/105 - 1
1-237550628-G-C c.624G>C p.Q208H Missense 9/105 - 1
1-237550628-G-T c.624G>T p.Q208H Missense 9/105 - 1
1-237550629-C-A c.625C>A p.Q209K Missense 9/105 - 1
1-237550631-G-A c.627G>A p.Q209= Synonymous 9/105 - 1
1-237550633-C-T c.629C>T p.T210I Missense 9/105 - 2
1-237550634-T-C c.630T>C p.T210= Synonymous 9/105 - 1
1-237550635-C-T c.631C>T p.L211F Missense 9/105 - 4
1-237550636-T-C c.632T>C p.L211P Missense 9/105 - 3
1-237550637-C-A c.633C>A p.L211= Synonymous 9/105 - 3
1-237550637-C-G c.633C>G p.L211= Synonymous 9/105 - 3
1-237550637-C-T c.633C>T p.L211= Synonymous 9/105 - 3
1-237550637-TC-T c.633del p.W212Gfs*66 Frameshift 9/105 - 1
1-237550640-G-C c.636G>C p.W212C Missense 9/105 - 2
1-237550640-G-T c.636G>T p.W212C Missense 9/105 - 1
1-237550641-A-G c.637A>G p.S213G Missense 9/105 - 1
1-237550642-G-A c.638G>A p.S213N Missense 9/105 - 2
1-237550642-G-C c.638G>C p.S213T Missense 9/105 - 1
1-237550642-G-T c.638G>T p.S213I Missense 9/105 - 2
1-237550643-C-T c.639C>T p.S213= Synonymous 9/105 - 1
1-237550644-G-A c.640G>A p.V214M Missense 9/105 - 3
1-237550644-G-C c.640G>C p.V214L Missense 9/105 - 1
1-237550644-G-T c.640G>T p.V214L Missense 9/105 - 2
1-237550643-CGT-C c.641_642del p.V214Gfs*8 Frameshift 9/105 - 1
1-237550647-G-C c.643G>C p.A215P Missense 9/105 - 1
1-237550647-G-T c.643G>T p.A215S Missense 9/105 - 3
1-237550650-C-A c.646C>A p.P216T Missense 9/105 - 1
1-237550652-A-T c.648A>T p.P216= Synonymous 9/105 - 1
1-237550653-A-G c.649A>G p.I217V Missense 9/105 - 12
1-237550654-T-C c.650T>C p.I217T Missense 9/105 - 1
1-237550655-C-G c.651C>G p.I217M Missense 9/105 - 1
1-237550656-A-C c.652A>C p.S218R Missense 9/105 - 2
1-237550656-AG-CT c.652_653inv p.S218L Missense 9/105 - 1
1-237550657-G-A c.653G>A p.S218N Missense 9/105 - 2
1-237550657-G-T c.653G>T p.S218I Missense 9/105 - 1
1-237550658-C-T c.654C>T p.S218= Synonymous 9/105 - 1
1-237550658-GC-G c.654del p.S219Qfs*59 Frameshift 9/105 - 1
1-237550660-C-A c.656C>A p.S219* Nonsense 9/105 - 1
1-237550660-CA-GT c.656_657delinsGT p.S219C Missense 9/105 - 2
1-237550660-C-G c.656C>G p.S219* Nonsense 9/105 - 1
1-237550661-A-C c.657A>C p.S219= Synonymous 9/105 - 2
1-237550661-A-G c.657A>G p.S219= Synonymous 9/105 - 2
1-237550661-A-T c.657A>T p.S219= Synonymous 9/105 - 2
1-237550662-G-A c.658G>A p.G220R Missense 9/105 - 3
1-237550662-G-C c.658G>C p.G220R Missense 9/105 - 2
1-237550662-GG-AA c.658_659delinsAA p.G220K Missense 9/105 - 1
1-237550663-G-A c.659G>A p.G220E Missense 9/105 - 1
1-237550664-A-C c.660A>C p.G220= Synonymous 9/105 - 1
1-237550664-A-G c.660A>G p.G220= Synonymous 9/105 - 1
1-237550664-A-T c.660A>T p.G220= Synonymous 9/105 - 1
1-237550665-A-C c.661A>C p.S221R Missense 9/105 - 1
1-237550666-G-A c.662G>A p.S221N Missense 9/105 - 1
1-237550667-T-C c.663T>C p.S221= Synonymous 9/105 - 1
1-237550668-G-C c.664G>C p.E222Q Missense 9/105 - 1
1-237550668-G-T c.664G>T p.E222* Nonsense 9/105 - 1
1-237550672-C-A c.668C>A p.A223E Missense 9/105 - 4
1-237550672-C-T c.668C>T p.A223V Missense 9/105 - 1
1-237550675-C-A c.671C>A p.A224D Missense 9/105 - 1
1-237550675-C-G c.671C>G p.A224G Missense 9/105 - 1
1-237550677-C-T c.673C>T p.Q225* Nonsense 9/105 - 1
1-237550679-A-G c.675A>G p.Q225= Synonymous 9/105 - 1
1-237550680-G-A c.676G>A p.G226R Missense 9/105 - 1
1-237550680-G-C c.676G>C p.G226R Missense 9/105 - 2
1-237550680-G-T c.676G>T p.G226W Missense 9/105 - 1
1-237550731-G-A c.676+51G>A - IntronicSNV - 9/104 1
1-237550747-T-A c.676+67T>A - IntronicSNV - 9/104 1
1-237550846-T-C c.676+166T>C - IntronicSNV - 9/104 1
1-237551241-G-GTT c.677-145_677-144insTT - IntronicInsertion - 9/104 3
1-237551376-T-A c.677-11T>A - IntronicSNV - 9/104 13
1-237551376-T-C c.677-11T>C - IntronicSNV - 9/104 13
1-237551387-G-A c.677G>A p.G226E Missense 10/105 - 1
1-237551388-G-A c.678G>A p.G226= Synonymous 10/105 - 1
1-237551388-G-C c.678G>C p.G226= Synonymous 10/105 - 1
1-237551388-G-T c.678G>T p.G226= Synonymous 10/105 - 1
1-237551389-T-C c.679T>C p.Y227H Missense 10/105 - 3
1-237551391-T-A c.681T>A p.Y227* Nonsense 10/105 - 1
1-237551391-T-G c.681T>G p.Y227* Nonsense 10/105 - 1
1-237551392-C-A c.682C>A p.L228I Missense 10/105 - 2
1-237551394-C-T c.684C>T p.L228= Synonymous 10/105 - 2
1-237551395-A-C c.685A>C p.I229L Missense 10/105 - 3
1-237551395-A-T c.685A>T p.I229F Missense 10/105 - 1
1-237551396-T-A c.686T>A p.I229N Missense 10/105 - 1
1-237551396-T-G c.686T>G p.I229S Missense 10/105 - 1
1-237551398-G-T c.688G>T p.G230C Missense 10/105 - 8
1-237551399-G-A c.689G>A p.G230D Missense 10/105 - 5
1-237551399-G-T c.689G>T p.G230V Missense 10/105 - 1
1-237551399-GT-AG c.689_690delinsAG p.G230E Missense 10/105 - 1
1-237551401-G-A c.691G>A p.G231S Missense 10/105 - 1
1-237551401-G-C c.691G>C p.G231R Missense 10/105 - 1
1-237551406-T-C c.696T>C p.D232= Synonymous 10/105 - 1
1-237551407-G-C c.697G>C p.V233L Missense 10/105 - 1
1-237551407-G-T c.697G>T p.V233F Missense 10/105 - 1
1-237551411-T-A c.701T>A p.L234H Missense 10/105 - 2
1-237551412-C-T c.702C>T p.L234= Synonymous 10/105 - 1
1-237551413-AG-CA c.703_704delinsCA p.R235Q Missense 10/105 - 1
1-237551413-AG-CC c.703_704delinsCC p.R235P Missense 10/105 - 1
1-237551413-AG-CT c.703_704inv p.R235L Missense 10/105 - 1
1-237551413-AG-TA c.703_704delinsTA p.R235* Nonsense 10/105 - 1
1-237551414-G-A c.704G>A p.R235K Missense 10/105 - 3
1-237551413-AG-A c.705del p.R235Sfs*43 Frameshift 10/105 - 1
1-237551417-T-A c.707T>A p.L236* Nonsense 10/105 - 1
1-237551418-G-A c.708G>A p.L236= Synonymous 10/105 - 1
1-237551419-C-G c.709C>G p.L237V Missense 10/105 - 2
1-237551420-CTG-C c.710_711del p.L237Pfs*17 Frameshift 10/105 - 1
1-237551422-C-T c.712C>T p.H238Y Missense 10/105 - 1
1-237551425-G-A c.715G>A p.G239R Missense 10/105 - 3
1-237551425-G-C c.715G>C p.G239R Missense 10/105 - 1
1-237551425-G-T c.715G>T p.G239* Nonsense 10/105 - 1
1-237551426-G-C c.716G>C p.G239A Missense 10/105 - 1
1-237551426-G-T c.716G>T p.G239V Missense 10/105 - 1
1-237551428-C-A c.718C>A p.H240N Missense 10/105 - 1
1-237551429-A-C c.719A>C p.H240P Missense 10/105 - 2
1-237551429-A-G c.719A>G p.H240R Missense 10/105 - 4
1-237551433-G-A c.723G>A p.M241I Missense 10/105 - 1
1-237551433-G-C c.723G>C p.M241I Missense 10/105 - 2
1-237551433-G-T c.723G>T p.M241I Missense 10/105 - 2
1-237551432-T-TG c.724dup p.D242Gfs*13 Frameshift 10/105 - 1
1-237551434-G-C c.724G>C p.D242H Missense 10/105 - 1
1-237551434-G-T c.724G>T p.D242Y Missense 10/105 - 1
1-237551435-A-T c.725A>T p.D242V Missense 10/105 - 2
1-237551436-C-A c.726C>A p.D242E Missense 10/105 - 1
1-237551436-C-G c.726C>G p.D242E Missense 10/105 - 1
1-237551436-C-T c.726C>T p.D242= Synonymous 10/105 - 2
1-237551437-G-A c.727G>A p.E243K Missense 10/105 - 8
1-237551437-G-T c.727G>T p.E243* Nonsense 10/105 - 2
1-237551438-A-T c.728A>T p.E243V Missense 10/105 - 2
1-237551439-G-T c.729G>T p.E243D Missense 10/105 - 1
1-237551440-T-A c.730T>A p.C244S Missense 10/105 - 4
1-237551440-TG-AC c.730_731delinsAC p.C244T Missense 10/105 - 1
1-237551441-G-C c.731G>C p.C244S Missense 10/105 - 2
1-237551443-C-G c.733C>G p.L245V Missense 10/105 - 1
1-237551444-T-C c.734T>C p.L245P Missense 10/105 - 1
1-237551446-A-T c.736A>T p.T246S Missense 10/105 - 1
1-237551447-C-T c.737C>T p.T246I Missense 10/105 - 2
1-237551449-G-T c.739G>T p.V247F Missense 10/105 - 3
1-237551450-T-A c.740T>A p.V247D Missense 10/105 - 1
1-237551451-C-T c.741C>T p.V247= Synonymous 10/105 - 1
1-237551452-C-T c.742C>T p.P248S Missense 10/105 - 4
1-237551455-T-C c.745T>C p.S249P Missense 10/105 - 1
1-237551458-G-A c.748G>A p.G250R Missense 10/105 - 1
1-237551458-GGA-TGG c.748_750delinsTGG p.G250W Missense 10/105 - 1
1-237551459-G-A c.749G>A p.G250E Missense 10/105 - 1
1-237551459-G-C c.749G>C p.G250A Missense 10/105 - 1
1-237551460-A-C c.750A>C p.G250= Synonymous 10/105 - 1
1-237551460-A-G c.750A>G p.G250= Synonymous 10/105 - 1
1-237551460-A-T c.750A>T p.G250= Synonymous 10/105 - 1
1-237551461-G-A c.751G>A p.E251K Missense 10/105 - 1
1-237551461-G-C c.751G>C p.E251Q Missense 10/105 - 1
1-237551463-A-C c.753A>C p.E251D Missense 10/105 - 1
1-237551463-A-T c.753A>T p.E251D Missense 10/105 - 1
1-237551464-C-A c.754C>A p.H252N Missense 10/105 - 3
1-237551464-C-T c.754C>T p.H252Y Missense 10/105 - 2
1-237551467-G-A c.757G>A p.G253S Missense 10/105 - 1
1-237551467-G-C c.757G>C p.G253R Missense 10/105 - 1
1-237551468-G-T c.758G>T p.G253V Missense 10/105 - 2
1-237551469-T-A c.759T>A p.G253= Synonymous 10/105 - 1
1-237551469-T-C c.759T>C p.G253= Synonymous 10/105 - 1
1-237551469-T-G c.759T>G p.G253= Synonymous 10/105 - 1
1-237551472-A-G c.762A>G p.E254= Synonymous 10/105 - 1
1-237551473-G-A c.763G>A p.E255K Missense 10/105 - 1
1-237551473-G-C c.763G>C p.E255Q Missense 10/105 - 3
1-237551473-G-T c.763G>T p.E255* Nonsense 10/105 - 1
1-237551477-A-G c.767A>G p.Q256R Missense 10/105 - 1
1-237551479-C-G c.769C>G p.R257G Missense 10/105 - 1
1-237551479-CGG-TGT c.769_771delinsTGT p.R257C Missense 10/105 - 1
1-237551479-C-T c.769C>T p.R257W Missense 10/105 - 2
1-237551480-G-A c.770G>A p.R257Q Missense 10/105 - 10
1-237551481-G-T c.771G>T p.R257= Synonymous 10/105 - 1
1-237551483-G-T c.773G>T p.R258I Missense 10/105 - 2
1-237551486-T-G c.773+3T>G - IntronicSNV - 10/104 1
1-237551490-A-G c.773+7A>G - IntronicSNV - 10/104 1
1-237552011-A-G c.773+528A>G - IntronicSNV - 10/104 1
1-237552463-C-T c.773+980C>T - IntronicSNV - 10/104 1
1-237554453-G-A c.773+2970G>A - IntronicSNV - 10/104 1
1-237554553-A-G c.773+3070A>G - IntronicSNV - 10/104 1
1-237555284-G-A c.773+3801G>A - IntronicSNV - 10/104 1
1-237555296-G-A c.773+3813G>A - IntronicSNV - 10/104 1
1-237557169-C-T c.773+5686C>T - IntronicSNV - 10/104 1
1-237565700-A-G c.773+14217A>G - IntronicSNV - 10/104 1
1-237565699-GA-G c.773+14225del - IntronicDeletion - 10/104 1
1-237565709-T-A c.773+14226T>A - IntronicSNV - 10/104 1
1-237565709-T-G c.773+14226T>G - IntronicSNV - 10/104 1
1-237566971-C-A c.774-13378C>A - IntronicSNV - 10/104 4
1-237566971-C-G c.774-13378C>G - IntronicSNV - 10/104 4
1-237569717-T-C c.774-10632T>C - IntronicSNV - 10/104 1
1-237580059-C-CAG c.774-289_774-288insGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAG c.774-289_774-288insGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAG c.774-289_774-288insGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAG c.774-289_774-288insGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAG c.774-289_774-288insGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAGAG c.774-289_774-288insGAGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAGAGAG c.774-289_774-288insGAGAGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAGAGAGAGAG c.774-289_774-288insGAGAGAGAGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAGAGAGAGAGAG c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580059-C-CAGAGAGAGAGAGAGAGAGAGAGAGAG c.774-289_774-288insGAGAGAGAGAGAGAGAGAGAGAGAGA - IntronicInsertion - 10/104 1
1-237580061-C-G c.774-288C>G - IntronicSNV - 10/104 1
1-237580063-C-G c.774-286C>G - IntronicSNV - 10/104 1
1-237580350-A-C c.775A>C p.T259P Missense 11/105 - 1
1-237580351-C-A c.776C>A p.T259N Missense 11/105 - 1
1-237580351-C-T c.776C>T p.T259I Missense 11/105 - 1
1-237580353-G-C c.778G>C p.V260L Missense 11/105 - 1
1-237580356-C-T c.781C>T p.H261Y Missense 11/105 - 7
1-237580357-A-G c.782A>G p.H261R Missense 11/105 - 1
1-237580358-T-C c.783T>C p.H261= Synonymous 11/105 - 2
1-237580362-G-A c.787G>A p.E263K Missense 11/105 - 8
1-237580365-G-C c.790G>C p.G264R Missense 11/105 - 1
1-237580365-G-T c.790G>T p.G264C Missense 11/105 - 1
1-237580366-G-A c.791G>A p.G264D Missense 11/105 - 1
1-237580366-G-T c.791G>T p.G264V Missense 11/105 - 2
1-237580368-G-A c.793G>A p.G265S Missense 11/105 - 1
1-237580368-G-T c.793G>T p.G265C Missense 11/105 - 1
1-237580370-C-A c.795C>A p.G265= Synonymous 11/105 - 1
1-237580370-C-G c.795C>G p.G265= Synonymous 11/105 - 1
1-237580370-C-T c.795C>T p.G265= Synonymous 11/105 - 1
1-237580371-G-A c.796G>A p.A266T Missense 11/105 - 14
1-237580371-G-C c.796G>C p.A266P Missense 11/105 - 2
1-237580371-G-T c.796G>T p.A266S Missense 11/105 - 5
1-237580372-C-G c.797C>G p.A266G Missense 11/105 - 1
1-237580373-T-A c.798T>A p.A266= Synonymous 11/105 - 1
1-237580373-T-C c.798T>C p.A266= Synonymous 11/105 - 3
1-237580373-T-G c.798T>G p.A266= Synonymous 11/105 - 1
1-237580374-G-A c.799G>A p.V267M Missense 11/105 - 1
1-237580374-G-T c.799G>T p.V267L Missense 11/105 - 1
1-237580375-T-A c.800T>A p.V267E Missense 11/105 - 1
1-237580375-T-C c.800T>C p.V267A Missense 11/105 - 1
1-237580376-G-A c.801G>A p.V267= Synonymous 11/105 - 2
1-237580376-G-C c.801G>C p.V267= Synonymous 11/105 - 2
1-237580376-G-T c.801G>T p.V267= Synonymous 11/105 - 4
1-237580377-T-A c.802T>A p.S268T Missense 11/105 - 1
1-237580377-TC-CT c.802_803delinsCT p.S268L Missense 11/105 - 1
1-237580378-C-A c.803C>A p.S268Y Missense 11/105 - 1
1-237580378-C-T c.803C>T p.S268F Missense 11/105 - 4
1-237580383-C-A c.808C>A p.H270N Missense 11/105 - 1
1-237580383-C-T c.808C>T p.H270Y Missense 11/105 - 1
1-237580386-G-A c.811G>A p.A271T Missense 11/105 - 1
1-237580386-G-T c.811G>T p.A271S Missense 11/105 - 2
1-237580387-C-G c.812C>G p.A271G Missense 11/105 - 2
1-237580388-A-C c.813A>C p.A271= Synonymous 11/105 - 3
1-237580388-A-G c.813A>G p.A271= Synonymous 11/105 - 4
1-237580388-A-T c.813A>T p.A271= Synonymous 11/105 - 3
1-237580389-C-A c.814C>A p.R272S Missense 11/105 - 1
1-237580389-CGT-TGG c.814_816delinsTGG p.R272W Missense 11/105 - 1
1-237580389-C-T c.814C>T p.R272C Missense 11/105 - 3
1-237580390-G-A c.815G>A p.R272H Missense 11/105 - 3
1-237580390-G-C c.815G>C p.R272P Missense 11/105 - 1
1-237580390-G-T c.815G>T p.R272L Missense 11/105 - 1
1-237580392-T-C c.817T>C p.S273P Missense 11/105 - 1
1-237580393-C-T c.818C>T p.S273F Missense 11/105 - 4
1-237580394-C-A c.819C>A p.S273= Synonymous 11/105 - 3
1-237580394-C-G c.819C>G p.S273= Synonymous 11/105 - 3
1-237580394-C-T c.819C>T p.S273= Synonymous 11/105 - 8
1-237580395-C-T c.820C>T p.L274F Missense 11/105 - 1
1-237580397-T-A c.822T>A p.L274= Synonymous 11/105 - 2
1-237580397-T-C c.822T>C p.L274= Synonymous 11/105 - 1
1-237580397-T-G c.822T>G p.L274= Synonymous 11/105 - 1
1-237580399-G-A c.824G>A p.W275* Nonsense 11/105 - 1
1-237580400-G-A c.825G>A p.W275* Nonsense 11/105 - 1
1-237580401-A-G c.826A>G p.R276G Missense 11/105 - 1
1-237580401-AG-CA c.826_827delinsCA p.R276Q Missense 11/105 - 3
1-237580401-A-T c.826A>T p.R276* Nonsense 11/105 - 1
1-237580402-GA-TG c.827_828delinsTG p.R276M Missense 11/105 - 1
1-237580402-G-T c.827G>T p.R276I Missense 11/105 - 2
1-237580407-G-A c.832G>A p.E278K Missense 11/105 - 1
1-237580407-G-T c.832G>T p.E278* Nonsense 11/105 - 1
1-237580409-G-T c.834G>T p.E278D Missense 11/105 - 1
1-237580411-C-G c.836C>G p.T279R Missense 11/105 - 1
1-237580411-C-T c.836C>T p.T279M Missense 11/105 - 3
1-237580412-G-A c.837G>A p.T279= Synonymous 11/105 - 1
1-237580412-G-C c.837G>C p.T279= Synonymous 11/105 - 1
1-237580412-G-T c.837G>T p.T279= Synonymous 11/105 - 1
1-237580416-AGA-CAT c.841_843delinsCAT p.R281H Missense 11/105 - 1
1-237580416-AG-CA c.841_842delinsCA p.R281Q Missense 11/105 - 1
1-237580417-G-A c.842G>A p.R281K Missense 11/105 - 1
1-237580416-A-C c.841A>C p.R281= Synonymous 11/105 - 5
1-237580418-A-G c.843A>G p.R281= Synonymous 11/105 - 5
1-237580419-G-A c.844G>A p.V282I Missense 11/105 - 1
1-237580419-G-C c.844G>C p.V282L Missense 11/105 - 4
1-237580419-G-T c.844G>T p.V282F Missense 11/105 - 1
1-237580420-T-A c.845T>A p.V282D Missense 11/105 - 1
1-237580422-G-A c.847G>A p.A283T Missense 11/105 - 2
1-237580423-C-T c.848C>T p.A283V Missense 11/105 - 4
1-237580424-G-A c.848+1G>A - IntronicSNV - 11/104 6
1-237580424-G-C c.848+1G>C - IntronicSNV - 11/104 1
1-237580606-G-C c.848+183G>C - IntronicSNV - 11/104 3
1-237580606-G-T c.848+183G>T - IntronicSNV - 11/104 5
1-237580612-G-C c.848+189G>C - IntronicSNV - 11/104 5
1-237586136-T-A c.849-256T>A - IntronicSNV - 11/104 1
1-237586196-C-T c.849-196C>T - IntronicSNV - 11/104 1
1-237586242-G-T c.849-150G>T - IntronicSNV - 11/104 1
1-237586342-C-T c.849-50C>T - IntronicSNV - 11/104 1
1-237586384-T-C c.849-8T>C - IntronicSNV - 11/104 10
1-237586392-G-A c.849G>A p.A283= Synonymous 12/105 - 4
1-237586392-G-C c.849G>C p.A283= Synonymous 12/105 - 4
1-237586392-G-T c.849G>T p.A283= Synonymous 12/105 - 5
1-237586394-G-A c.851G>A p.W284* Nonsense 12/105 - 3
1-237586394-G-T c.851G>T p.W284L Missense 12/105 - 4
1-237586395-G-A c.852G>A p.W284* Nonsense 12/105 - 1
1-237586395-G-C c.852G>C p.W284C Missense 12/105 - 1
1-237586395-G-T c.852G>T p.W284C Missense 12/105 - 2
1-237586396-AG-GC c.853_854delinsGC p.S285A Missense 12/105 - 1
1-237586396-A-T c.853A>T p.S285C Missense 12/105 - 2
1-237586397-G-A c.854G>A p.S285N Missense 12/105 - 2
1-237586397-G-T c.854G>T p.S285I Missense 12/105 - 1
1-237586400-G-A c.857G>A p.G286E Missense 12/105 - 1
1-237586400-G-T c.857G>T p.G286V Missense 12/105 - 3
1-237586401-A-C c.858A>C p.G286= Synonymous 12/105 - 2
1-237586401-A-G c.858A>G p.G286= Synonymous 12/105 - 2
1-237586401-A-T c.858A>T p.G286= Synonymous 12/105 - 3
1-237586403-G-A c.860G>A p.S287N Missense 12/105 - 1
1-237586404-C-T c.861C>T p.S287= Synonymous 12/105 - 1
1-237586405-C-G c.862C>G p.H288D Missense 12/105 - 1
1-237586405-C-T c.862C>T p.H288Y Missense 12/105 - 1
1-237586408-A-G c.865A>G p.I289V Missense 12/105 - 1
1-237586408-A-T c.865A>T p.I289L Missense 12/105 - 1
1-237586411-A-G c.868A>G p.R290G Missense 12/105 - 1
1-237586412-G-T c.869G>T p.R290I Missense 12/105 - 1
1-237586411-A-C c.868A>C p.R290= Synonymous 12/105 - 1
1-237586413-A-G c.870A>G p.R290= Synonymous 12/105 - 1
1-237586416-G-C c.873G>C p.W291C Missense 12/105 - 2
1-237586416-G-T c.873G>T p.W291C Missense 12/105 - 3
1-237586417-G-A c.874G>A p.G292R Missense 12/105 - 1
1-237586417-G-C c.874G>C p.G292R Missense 12/105 - 1
1-237586417-G-T c.874G>T p.G292* Nonsense 12/105 - 1
1-237586414-TG-T c.875del p.G292Dfs*15 Frameshift 12/105 - 1
1-237586420-C-T c.877C>T p.Q293* Nonsense 12/105 - 3
1-237586421-A-C c.878A>C p.Q293P Missense 12/105 - 2
1-237586422-G-C c.879G>C p.Q293H Missense 12/105 - 1
1-237586422-G-T c.879G>T p.Q293H Missense 12/105 - 1
1-237586424-C-G c.881C>G p.P294R Missense 12/105 - 1
1-237586425-A-C c.882A>C p.P294= Synonymous 12/105 - 1
1-237586425-A-G c.882A>G p.P294= Synonymous 12/105 - 1
1-237586425-A-T c.882A>T p.P294= Synonymous 12/105 - 1
1-237586426-T-C c.883T>C p.F295L Missense 12/105 - 1
1-237586428-C-A c.885C>A p.F295L Missense 12/105 - 1
1-237586428-C-G c.885C>G p.F295L Missense 12/105 - 1
1-237586428-C-T c.885C>T p.F295= Synonymous 12/105 - 1
1-237586429-CGA-TGT c.886_888delinsTGT p.R296C Missense 12/105 - 1
1-237586429-C-T c.886C>T p.R296* Nonsense 12/105 - 7
1-237586430-G-A c.887G>A p.R296Q Missense 12/105 - 7
1-237586430-GA-AT c.887_888delinsAT p.R296H Missense 12/105 - 1
1-237586432-C-T c.889C>T p.L297= Synonymous 12/105 - 1
1-237586434-A-C c.891A>C p.L297= Synonymous 12/105 - 1
1-237586434-A-G c.891A>G p.L297= Synonymous 12/105 - 1
1-237586434-A-T c.891A>T p.L297= Synonymous 12/105 - 1
1-237586435-C-A c.892C>A p.R298S Missense 12/105 - 1
1-237586435-C-T c.892C>T p.R298C Missense 12/105 - 12
1-237586436-G-A c.893G>A p.R298H Missense 12/105 - 7
1-237586440-T-C c.897T>C p.H299= Synonymous 12/105 - 1
1-237586442-T-C c.899T>C p.V300A Missense 12/105 - 2
1-237586443-C-A c.900C>A p.V300= Synonymous 12/105 - 3
1-237586443-C-G c.900C>G p.V300= Synonymous 12/105 - 1
1-237586443-C-T c.900C>T p.V300= Synonymous 12/105 - 1
1-237586444-A-G c.901A>G p.T301A Missense 12/105 - 1
1-237586445-CA-TG c.902_903inv p.T301M Missense 12/105 - 1
1-237586445-C-T c.902C>T p.T301I Missense 12/105 - 1
1-237586446-A-C c.903A>C p.T301= Synonymous 12/105 - 1
1-237586446-A-G c.903A>G p.T301= Synonymous 12/105 - 1
1-237586446-A-T c.903A>T p.T301= Synonymous 12/105 - 1
1-237586447-A-G c.904A>G p.T302A Missense 12/105 - 1
1-237586447-A-T c.904A>T p.T302S Missense 12/105 - 1
1-237586448-C-A c.905C>A p.T302K Missense 12/105 - 1
1-237586448-CA-TG c.905_906inv p.T302M Missense 12/105 - 1
1-237586448-C-G c.905C>G p.T302R Missense 12/105 - 1
1-237586449-A-C c.906A>C p.T302= Synonymous 12/105 - 1
1-237586449-A-G c.906A>G p.T302= Synonymous 12/105 - 2
1-237586449-A-T c.906A>T p.T302= Synonymous 12/105 - 1
1-237586450-G-A c.907G>A p.G303R Missense 12/105 - 2
1-237586450-G-C c.907G>C p.G303R Missense 12/105 - 1
1-237586451-G-A c.908G>A p.G303E Missense 12/105 - 5
1-237586454-A-G c.911A>G p.K304R Missense 12/105 - 1
1-237586454-A-T c.911A>T p.K304I Missense 12/105 - 1
1-237586456-T-A c.913T>A p.Y305N Missense 12/105 - 2
1-237586458-C-A c.915C>A p.Y305* Nonsense 12/105 - 1
1-237586458-C-G c.915C>G p.Y305* Nonsense 12/105 - 1
1-237586459-T-C c.916T>C p.L306= Synonymous 12/105 - 1
1-237586459-T-G c.916T>G p.L306V Missense 12/105 - 1
1-237586461-G-A c.918G>A p.L306= Synonymous 12/105 - 1
1-237586462-A-G c.919A>G p.S307G Missense 12/105 - 1
1-237586462-AG-TT c.919_920delinsTT p.S307F Missense 12/105 - 1
1-237586462-A-T c.919A>T p.S307C Missense 12/105 - 4
1-237586469-T-C c.926T>C p.M309T Missense 12/105 - 1
1-237586470-G-A c.927G>A p.M309I Missense 12/105 - 1
1-237586471-G-A c.928G>A p.E310K Missense 12/105 - 2
1-237586474-G-T c.931G>T p.D311Y Missense 12/105 - 2
1-237586476-C-T c.933C>T p.D311= Synonymous 12/105 - 1
1-237586477-A-G c.934A>G p.K312E Missense 12/105 - 1
1-237586478-A-T c.935A>T p.K312I Missense 12/105 - 2
1-237586481-A-G c.938A>G p.N313S Missense 12/105 - 1
1-237586481-A-T c.938A>T p.N313I Missense 12/105 - 2
1-237586482-C-A c.939C>A p.N313K Missense 12/105 - 1
1-237586483-C-T c.940C>T p.L314F Missense 12/105 - 3
1-237586484-T-A c.941T>A p.L314H Missense 12/105 - 2
1-237586486-C-T c.943C>T p.L315= Synonymous 12/105 - 2
1-237586487-T-C c.944T>C p.L315P Missense 12/105 - 1
1-237586488-A-C c.945A>C p.L315= Synonymous 12/105 - 1
1-237586488-A-G c.945A>G p.L315= Synonymous 12/105 - 1
1-237586488-A-T c.945A>T p.L315= Synonymous 12/105 - 2
1-237586489-C-T c.946C>T p.L316F Missense 12/105 - 2
1-237586492-A-G c.949A>G p.M317V Missense 12/105 - 1
1-237586492-A-T c.949A>T p.M317L Missense 12/105 - 1
1-237586493-T-A c.950T>A p.M317K Missense 12/105 - 1
1-237586493-T-C c.950T>C p.M317T Missense 12/105 - 3
1-237586494-G-A c.951G>A p.M317I Missense 12/105 - 2
1-237586494-G-C c.951G>C p.M317I Missense 12/105 - 1
1-237586494-G-T c.951G>T p.M317I Missense 12/105 - 2
1-237586495-G-A c.952G>A p.D318N Missense 12/105 - 2
1-237586495-G-C c.952G>C p.D318H Missense 12/105 - 3
1-237586495-G-T c.952G>T p.D318Y Missense 12/105 - 1
1-237586496-A-G c.953A>G p.D318G Missense 12/105 - 1
1-237586496-A-T c.953A>T p.D318V Missense 12/105 - 2
1-237586497-C-T c.954C>T p.D318= Synonymous 12/105 - 1
1-237586498-A-G c.955A>G p.K319E Missense 12/105 - 1
1-237586497-CAA-C c.956_957del p.K319Rfs*4 Frameshift 12/105 - 1
1-237586501-G-A c.958G>A p.E320K Missense 12/105 - 1
1-237586501-G-T c.958G>T p.E320* Nonsense 12/105 - 1
1-237586503-G-A c.960G>A p.E320= Synonymous 12/105 - 1
1-237586507-G-T c.964G>T p.A322S Missense 12/105 - 1
1-237586510-G-A c.967G>A p.D323N Missense 12/105 - 2
1-237586515-A-C c.972A>C p.V324= Synonymous 12/105 - 1
1-237586515-A-G c.972A>G p.V324= Synonymous 12/105 - 1
1-237586515-A-T c.972A>T p.V324= Synonymous 12/105 - 1
1-237586517-A-C c.974A>C p.K325T Missense 12/105 - 1
1-237586520-C-A c.977C>A p.S326* Nonsense 12/105 - 1
1-237586520-C-G c.977C>G p.S326* Nonsense 12/105 - 1
1-237586520-C-T c.977C>T p.S326L Missense 12/105 - 5
1-237586521-A-C c.978A>C p.S326= Synonymous 12/105 - 1
1-237586521-A-G c.978A>G p.S326= Synonymous 12/105 - 1
1-237586521-A-T c.978A>T p.S326= Synonymous 12/105 - 1
1-237586522-ACA-TGT c.979_981inv p.T327C Missense 12/105 - 1
1-237586522-A-T c.979A>T p.T327S Missense 12/105 - 1
1-237586525-G-A c.982G>A p.A328T Missense 12/105 - 6
1-237586526-C-A c.983C>A p.A328E Missense 12/105 - 1
1-237586526-C-G c.983C>G p.A328G Missense 12/105 - 1
1-237586526-C-T c.983C>T p.A328V Missense 12/105 - 1
1-237586527-CA-C c.984del p.F329Lfs*12 Frameshift 12/105 - 1
1-237586528-T-C c.985T>C p.F329L Missense 12/105 - 8
1-237586530-T-A c.987T>A p.F329L Missense 12/105 - 6
1-237586530-T-G c.987T>G p.F329L Missense 12/105 - 6
1-237586531-A-T c.988A>T p.T330S Missense 12/105 - 1
1-237586532-CC-TG c.989_990delinsTG p.T330M Missense 12/105 - 1
1-237586533-C-A c.990C>A p.T330= Synonymous 12/105 - 2
1-237586533-C-G c.990C>G p.T330= Synonymous 12/105 - 1
1-237586533-C-T c.990C>T p.T330= Synonymous 12/105 - 3
1-237586537-C-A c.994C>A p.R332= Synonymous 12/105 - 1
1-237586537-C-G c.994C>G p.R332G Missense 12/105 - 1
1-237586537-C-T c.994C>T p.R332W Missense 12/105 - 8
1-237586539-G-A c.996G>A p.R332= Synonymous 12/105 - 1
1-237586539-G-C c.996G>C p.R332= Synonymous 12/105 - 1
1-237586539-G-T c.996G>T p.R332= Synonymous 12/105 - 2
1-237586538-G-A c.995G>A p.R332Q Missense 12/105 - 5
1-237586538-G-C c.995G>C p.R332P Missense 12/105 - 1
1-237586540-TC-AA c.997_998delinsAA p.S333N Missense 12/105 - 1
1-237586541-C-A c.998C>A p.S333Y Missense 12/105 - 1
1-237586541-C-G c.998C>G p.S333C Missense 12/105 - 2
1-237586541-C-T c.998C>T p.S333F Missense 12/105 - 6
1-237586542-T-C c.999T>C p.S333= Synonymous 12/105 - 1
1-237586542-T-G c.999T>G p.S333= Synonymous 12/105 - 1
1-237586544-C-G c.1001C>G p.S334C Missense 12/105 - 1
1-237586544-C-T c.1001C>T p.S334F Missense 12/105 - 3
1-237586546-A-C c.1003A>C p.K335Q Missense 12/105 - 1
1-237586547-A-T c.1004A>T p.K335M Missense 12/105 - 1
1-237586548-G-T c.1005G>T p.K335N Missense 12/105 - 4
1-237586549-G-A c.1005+1G>A - IntronicSNV - 12/104 1
1-237586550-T-C c.1005+2T>C - IntronicSNV - 12/104 1
1-237586553-G-A c.1005+5G>A - IntronicSNV - 12/104 1
1-237587966-A-G c.1005+1418A>G - IntronicSNV - 12/104 1
1-237592080-C-A c.1005+5532C>A - IntronicSNV - 12/104 1
1-237592802-C-A c.1005+6254C>A - IntronicSNV - 12/104 1
1-237592802-C-G c.1005+6254C>G - IntronicSNV - 12/104 1
1-237592802-C-T c.1005+6254C>T - IntronicSNV - 12/104 1
1-237598453-T-C c.1006-6166T>C - IntronicSNV - 12/104 1
1-237599931-C-A c.1006-4688C>A - IntronicSNV - 12/104 1
1-237599931-C-G c.1006-4688C>G - IntronicSNV - 12/104 1
1-237602791-A-C c.1006-1828A>C - IntronicSNV - 12/104 1
1-237602791-A-G c.1006-1828A>G - IntronicSNV - 12/104 1
1-237604593-A-C c.1006-26A>C - IntronicSNV - 12/104 1
1-237604619-G-A c.1006G>A p.E336K Missense 13/105 - 4
1-237604619-G-T c.1006G>T p.E336* Nonsense 13/105 - 1
1-237604620-A-G c.1007A>G p.E336G Missense 13/105 - 2
1-237604621-A-G c.1008A>G p.E336= Synonymous 13/105 - 1
1-237604619-GAA-G c.1010_1011del p.K337Ifs*16 Frameshift 13/105 - 1
1-237604624-A-C c.1011A>C p.K337N Missense 13/105 - 1
1-237604624-A-T c.1011A>T p.K337N Missense 13/105 - 1
1-237604625-T-C c.1012T>C p.L338= Synonymous 13/105 - 1
1-237604625-T-G c.1012T>G p.L338V Missense 13/105 - 1
1-237604627-G-A c.1014G>A p.L338= Synonymous 13/105 - 3
1-237604628-G-A c.1015G>A p.D339N Missense 13/105 - 4
1-237604628-G-C c.1015G>C p.D339H Missense 13/105 - 1
1-237604629-A-T c.1016A>T p.D339V Missense 13/105 - 4
1-237604631-G-A c.1018G>A p.V340I Missense 13/105 - 1
1-237604634-G-A c.1021G>A p.G341R Missense 13/105 - 1
1-237604634-G-C c.1021G>C p.G341R Missense 13/105 - 1
1-237604634-G-T c.1021G>T p.G341W Missense 13/105 - 4
1-237604635-G-A c.1022G>A p.G341E Missense 13/105 - 2
1-237604635-G-C c.1022G>C p.G341A Missense 13/105 - 1
1-237604635-G-T c.1022G>T p.G341V Missense 13/105 - 1
1-237604636-G-A c.1023G>A p.G341= Synonymous 13/105 - 1
1-237604636-G-C c.1023G>C p.G341= Synonymous 13/105 - 1
1-237604636-G-T c.1023G>T p.G341= Synonymous 13/105 - 2
1-237604638-T-C c.1025T>C p.V342A Missense 13/105 - 1
1-237604641-G-C c.1028G>C p.R343T Missense 13/105 - 1
1-237604641-G-T c.1028G>T p.R343I Missense 13/105 - 1
1-237604640-A-C c.1027A>C p.R343= Synonymous 13/105 - 1
1-237604642-A-G c.1029A>G p.R343= Synonymous 13/105 - 1
1-237604643-A-G c.1030A>G p.K344E Missense 13/105 - 2
1-237604644-A-C c.1031A>C p.K344T Missense 13/105 - 1
1-237604646-G-T c.1033G>T p.E345* Nonsense 13/105 - 4
1-237604647-A-T c.1034A>T p.E345V Missense 13/105 - 2
1-237604648-A-C c.1035A>C p.E345D Missense 13/105 - 2
1-237604648-A-G c.1035A>G p.E345= Synonymous 13/105 - 3
1-237604650-T-A c.1037T>A p.V346E Missense 13/105 - 1
1-237604652-G-C c.1039G>C p.D347H Missense 13/105 - 2
1-237604655-G-T c.1042G>T p.G348C Missense 13/105 - 1
1-237604656-G-A c.1043G>A p.G348D Missense 13/105 - 3
1-237604656-G-C c.1043G>C p.G348A Missense 13/105 - 3
1-237604660-G-A c.1047G>A p.M349I Missense 13/105 - 1
1-237604660-G-C c.1047G>C p.M349I Missense 13/105 - 3
1-237604660-G-T c.1047G>T p.M349I Missense 13/105 - 1
1-237604661-G-A c.1048G>A p.G350R Missense 13/105 - 1
1-237604661-G-C c.1048G>C p.G350R Missense 13/105 - 1
1-237604662-G-A c.1049G>A p.G350E Missense 13/105 - 3
1-237604662-G-C c.1049G>C p.G350A Missense 13/105 - 1
1-237604664-A-G c.1051A>G p.T351A Missense 13/105 - 2
1-237604666-A-C c.1053A>C p.T351= Synonymous 13/105 - 1
1-237604666-A-G c.1053A>G p.T351= Synonymous 13/105 - 2
1-237604666-A-T c.1053A>T p.T351= Synonymous 13/105 - 1
1-237604667-TC-AT c.1054_1055delinsAT p.S352I Missense 13/105 - 1
1-237604668-C-A c.1055C>A p.S352Y Missense 13/105 - 1
1-237604671-A-T c.1058A>T p.E353V Missense 13/105 - 1
1-237604673-A-C c.1060A>C p.I354L Missense 13/105 - 1
1-237604673-A-T c.1060A>T p.I354L Missense 13/105 - 1
1-237604675-A-G c.1062A>G p.I354M Missense 13/105 - 1
1-237604676-A-G c.1063A>G p.K355E Missense 13/105 - 2
1-237604676-A-T c.1063A>T p.K355* Nonsense 13/105 - 1
1-237604679-T-C c.1066T>C p.Y356H Missense 13/105 - 1
1-237604679-T-G c.1066T>G p.Y356D Missense 13/105 - 2
1-237604682-G-A c.1069G>A p.G357S Missense 13/105 - 11
1-237604682-G-T c.1069G>T p.G357C Missense 13/105 - 1
1-237604683-G-A c.1070G>A p.G357D Missense 13/105 - 1
1-237604682-GGTGACTCA-G c.1072_1079del p.D358Mfs*30 Frameshift 13/105 - 1
1-237604685-G-A c.1072G>A p.D358N Missense 13/105 - 4
1-237604685-G-T c.1072G>T p.D358Y Missense 13/105 - 1
1-237604687-AC-A c.1074del p.S359Qfs*8 Frameshift 13/105 - 1
1-237604688-T-A c.1075T>A p.S359T Missense 13/105 - 1
1-237604688-TC-AG c.1075_1076delinsAG p.S359R Missense 13/105 - 1
1-237604689-C-G c.1076C>G p.S359* Nonsense 13/105 - 1
1-237604689-C-T c.1076C>T p.S359L Missense 13/105 - 1
1-237604691-G-T c.1078G>T p.V360L Missense 13/105 - 1
1-237604694-T-C c.1081T>C p.C361R Missense 13/105 - 1
1-237604695-G-A c.1082G>A p.C361Y Missense 13/105 - 1
1-237604698-A-C c.1085A>C p.Y362S Missense 13/105 - 1
1-237604701-T-C c.1088T>C p.I363T Missense 13/105 - 1
1-237604703-C-T c.1090C>T p.Q364* Nonsense 13/105 - 1
1-237604706-C-T c.1093C>T p.H365Y Missense 13/105 - 1
1-237604708-T-C c.1095T>C p.H365= Synonymous 13/105 - 1
1-237604712-G-A c.1099G>A p.D367N Missense 13/105 - 1
1-237604712-G-C c.1099G>C p.D367H Missense 13/105 - 1
1-237604713-A-G c.1100A>G p.D367G Missense 13/105 - 1
1-237604714-C-G c.1101C>G p.D367E Missense 13/105 - 1
1-237604715-A-G c.1102A>G p.T368A Missense 13/105 - 1
1-237604715-A-T c.1102A>T p.T368S Missense 13/105 - 1
1-237604716-C-A c.1103C>A p.T368K Missense 13/105 - 2
1-237604716-C-G c.1103C>G p.T368R Missense 13/105 - 1
1-237604718-GGC-TGA c.1105_1107delinsTGA p.G369* Nonsense 13/105 - 1
1-237604719-G-A c.1106G>A p.G369D Missense 13/105 - 1
1-237604720-C-A c.1107C>A p.G369= Synonymous 13/105 - 1
1-237604720-C-G c.1107C>G p.G369= Synonymous 13/105 - 5
1-237604720-C-T c.1107C>T p.G369= Synonymous 13/105 - 2
1-237604721-C-G c.1108C>G p.L370V Missense 13/105 - 1
1-237604722-T-A c.1109T>A p.L370Q Missense 13/105 - 4
1-237604725-G-A c.1112G>A p.W371* Nonsense 13/105 - 1
1-237604727-C-G c.1114C>G p.L372V Missense 13/105 - 1
1-237604727-C-T c.1114C>T p.L372F Missense 13/105 - 2
1-237604728-T-A c.1115T>A p.L372H Missense 13/105 - 2
1-237604729-T-A c.1116T>A p.L372= Synonymous 13/105 - 1
1-237604729-T-C c.1116T>C p.L372= Synonymous 13/105 - 1
1-237604729-T-G c.1116T>G p.L372= Synonymous 13/105 - 1
1-237604732-T-A c.1119T>A p.T373= Synonymous 13/105 - 3
1-237604732-T-C c.1119T>C p.T373= Synonymous 13/105 - 4
1-237604732-T-G c.1119T>G p.T373= Synonymous 13/105 - 4
1-237604733-T-C c.1120T>C p.Y374H Missense 13/105 - 2
1-237604736-C-A c.1123C>A p.Q375K Missense 13/105 - 1
1-237604736-C-T c.1123C>T p.Q375* Nonsense 13/105 - 1
1-237604737-A-T c.1124A>T p.Q375L Missense 13/105 - 1
1-237604739-T-A c.1126T>A p.S376T Missense 13/105 - 1
1-237604740-C-T c.1127C>T p.S376F Missense 13/105 - 2
1-237604742-G-A c.1129G>A p.V377M Missense 13/105 - 4
1-237604743-T-C c.1130T>C p.V377A Missense 13/105 - 1
1-237604745-G-A c.1132G>A p.D378N Missense 13/105 - 4
1-237604747-C-T c.1134C>T p.D378= Synonymous 13/105 - 2
1-237604748-G-A c.1135G>A p.V379M Missense 13/105 - 2
1-237604748-GTG-ATC c.1135_1137delinsATC p.V379I Missense 13/105 - 1
1-237604749-T-A c.1136T>A p.V379E Missense 13/105 - 1
1-237604750-G-T c.1137G>T p.V379= Synonymous 13/105 - 1
1-237604751-A-G c.1138A>G p.K380E Missense 13/105 - 1
1-237604755-C-T c.1142C>T p.S381F Missense 13/105 - 8
1-237604756-C-A c.1143C>A p.S381= Synonymous 13/105 - 3
1-237604756-C-G c.1143C>G p.S381= Synonymous 13/105 - 3
1-237604756-C-T c.1143C>T p.S381= Synonymous 13/105 - 6
1-237604757-G-A c.1144G>A p.V382M Missense 13/105 - 10
1-237604757-G-T c.1144G>T p.V382L Missense 13/105 - 1
1-237604757-GTG-ATC c.1144_1146delinsATC p.V382I Missense 13/105 - 2
1-237604757-GTG-TTT c.1144_1146delinsTTT p.V382F Missense 13/105 - 1
1-237604758-T-A c.1145T>A p.V382E Missense 13/105 - 1
1-237604758-T-C c.1145T>C p.V382A Missense 13/105 - 1
1-237604759-G-A c.1146G>A p.V382= Synonymous 13/105 - 3
1-237604759-G-C c.1146G>C p.V382= Synonymous 13/105 - 1
1-237604759-G-T c.1146G>T p.V382= Synonymous 13/105 - 1
1-237604760-A-G c.1147A>G p.R383G Missense 13/105 - 2
1-237604760-AGA-CAT c.1147_1149delinsCAT p.R383H Missense 13/105 - 2
1-237604760-AG-CT c.1147_1148inv p.R383L Missense 13/105 - 1
1-237604761-G-T c.1148G>T p.R383I Missense 13/105 - 1
1-237604764-T-C c.1151T>C p.M384T Missense 13/105 - 1
1-237604765-G-A c.1152G>A p.M384I Missense 13/105 - 3
1-237604765-G-C c.1152G>C p.M384I Missense 13/105 - 1
1-237604765-G-T c.1152G>T p.M384I Missense 13/105 - 1
1-237604766-GGA-TGT c.1153_1155delinsTGT p.G385C Missense 13/105 - 1
1-237604766-G-T c.1153G>T p.G385* Nonsense 13/105 - 2
1-237604767-G-A c.1154G>A p.G385E Missense 13/105 - 3
1-237604767-G-C c.1154G>C p.G385A Missense 13/105 - 2
1-237604767-G-T c.1154G>T p.G385V Missense 13/105 - 1
1-237604770-C-A c.1157C>A p.S386Y Missense 13/105 - 2
1-237604770-C-G c.1157C>G p.S386C Missense 13/105 - 1
1-237604770-C-T c.1157C>T p.S386F Missense 13/105 - 1
1-237604770-CT-AA c.1157_1158delinsAA p.S386* Nonsense 13/105 - 1
1-237604774-A-G c.1161A>G p.I387M Missense 13/105 - 1
1-237604775-C-A c.1162C>A p.Q388K Missense 13/105 - 3
1-237604775-C-G c.1162C>G p.Q388E Missense 13/105 - 2
1-237604775-C-T c.1162C>T p.Q388* Nonsense 13/105 - 1
1-237604778-C-A c.1165C>A p.R389S Missense 13/105 - 2
1-237604778-C-G c.1165C>G p.R389G Missense 13/105 - 5
1-237604778-CGT-TGA c.1165_1167delinsTGA p.R389* Nonsense 13/105 - 1
1-237604778-C-T c.1165C>T p.R389C Missense 13/105 - 4
1-237604779-G-A c.1166G>A p.R389H Missense 13/105 - 5
1-237604781-TAAG-T c.1168_1170del p.K390del InFrameDeletion 13/105 - 1
1-237604783-G-C c.1170G>C p.K390N Missense 13/105 - 1
1-237604783-G-T c.1170G>T p.K390N Missense 13/105 - 1
1-237604784-G-C c.1170+1G>C - IntronicSNV - 13/104 1
1-237604785-T-A c.1170+2T>A - IntronicSNV - 13/104 1
1-237604795-G-T c.1170+12G>T - IntronicSNV - 13/104 1
1-237608472-A-AC c.1171-225dup - IntronicInsertion - 13/104 1
1-237608702-C-G c.1172C>G p.A391G Missense 14/105 - 2
1-237608702-C-T c.1172C>T p.A391V Missense 14/105 - 2
1-237608703-T-A c.1173T>A p.A391= Synonymous 14/105 - 1
1-237608703-T-C c.1173T>C p.A391= Synonymous 14/105 - 1
1-237608703-T-G c.1173T>G p.A391= Synonymous 14/105 - 1
1-237608705-T-A c.1175T>A p.I392N Missense 14/105 - 1
1-237608706-T-A c.1176T>A p.I392= Synonymous 14/105 - 1
1-237608706-T-C c.1176T>C p.I392= Synonymous 14/105 - 1
1-237608706-T-G c.1176T>G p.I392M Missense 14/105 - 1
1-237608705-TTATGCA-T c.1177_1182del p.M393_H394del InFrameDeletion 14/105 - 2
1-237608707-A-G c.1177A>G p.M393V Missense 14/105 - 1
1-237608709-G-A c.1179G>A p.M393I Missense 14/105 - 1
1-237608709-G-T c.1179G>T p.M393I Missense 14/105 - 1
1-237608710-C-A c.1180C>A p.H394N Missense 14/105 - 1
1-237608710-C-T c.1180C>T p.H394Y Missense 14/105 - 1
1-237608711-A-T c.1181A>T p.H394L Missense 14/105 - 1
1-237608713-C-T c.1183C>T p.H395Y Missense 14/105 - 1
1-237608715-T-C c.1185T>C p.H395= Synonymous 14/105 - 1
1-237608716-G-A c.1186G>A p.E396K Missense 14/105 - 3
1-237608717-A-G c.1187A>G p.E396G Missense 14/105 - 1
1-237608718-A-G c.1188A>G p.E396= Synonymous 14/105 - 1
1-237608720-G-A c.1190G>A p.G397D Missense 14/105 - 2
1-237608720-G-T c.1190G>T p.G397V Missense 14/105 - 1
1-237608721-C-A c.1191C>A p.G397= Synonymous 14/105 - 2
1-237608721-C-G c.1191C>G p.G397= Synonymous 14/105 - 2
1-237608721-C-T c.1191C>T p.G397= Synonymous 14/105 - 3
1-237608724-C-A c.1194C>A p.H398Q Missense 14/105 - 1
1-237608724-C-T c.1194C>T p.H398= Synonymous 14/105 - 1
1-237608725-CATGGATGA-C c.1195_1202del p.M399Wfs*10 Frameshift 14/105 - 1
1-237608726-T-G c.1196T>G p.M399R Missense 14/105 - 1
1-237608727-G-A c.1197G>A p.M399I Missense 14/105 - 3
1-237608727-G-C c.1197G>C p.M399I Missense 14/105 - 2
1-237608727-G-T c.1197G>T p.M399I Missense 14/105 - 2
1-237608728-G-A c.1198G>A p.D400N Missense 14/105 - 3
1-237608728-G-C c.1198G>C p.D400H Missense 14/105 - 3
1-237608731-G-A c.1201G>A p.D401N Missense 14/105 - 1
1-237608732-A-G c.1202A>G p.D401G Missense 14/105 - 3
1-237608734-G-A c.1204G>A p.G402S Missense 14/105 - 2
1-237608734-G-T c.1204G>T p.G402C Missense 14/105 - 1
1-237608735-G-T c.1205G>T p.G402V Missense 14/105 - 2
1-237608736-C-T c.1206C>T p.G402= Synonymous 14/105 - 1
1-237608740-AG-CT c.1210_1211inv p.S404L Missense 14/105 - 1
1-237608740-AGT-TGA c.1210_1212delinsTGA p.S404* Nonsense 14/105 - 1
1-237608741-G-A c.1211G>A p.S404N Missense 14/105 - 3
1-237608740-A-C c.1210A>C p.S404R Missense 14/105 - 4
1-237608742-T-A c.1212T>A p.S404R Missense 14/105 - 3
1-237608742-T-G c.1212T>G p.S404R Missense 14/105 - 3
1-237608743-T-C c.1213T>C p.L405= Synonymous 14/105 - 2
1-237608745-G-A c.1215G>A p.L405= Synonymous 14/105 - 3
1-237608746-T-C c.1216T>C p.S406P Missense 14/105 - 2
1-237608747-C-A c.1217C>A p.S406* Nonsense 14/105 - 2
1-237608747-C-T c.1217C>T p.S406L Missense 14/105 - 37
1-237608748-G-A c.1218G>A p.S406= Synonymous 14/105 - 3
1-237608748-G-C c.1218G>C p.S406= Synonymous 14/105 - 1
1-237608748-G-T c.1218G>T p.S406= Synonymous 14/105 - 1
1-237608749-AGA-CAT c.1219_1221delinsCAT p.R407H Missense 14/105 - 1
1-237608749-AG-CA c.1219_1220delinsCA p.R407Q Missense 14/105 - 1
1-237608750-G-T c.1220G>T p.R407I Missense 14/105 - 2
1-237608749-A-C c.1219A>C p.R407= Synonymous 14/105 - 1
1-237608751-A-C c.1221A>C p.R407S Missense 14/105 - 2
1-237608751-A-G c.1221A>G p.R407= Synonymous 14/105 - 1
1-237608751-A-T c.1221A>T p.R407S Missense 14/105 - 2
1-237608752-T-A c.1222T>A p.S408T Missense 14/105 - 1
1-237608752-TC-AA c.1222_1223delinsAA p.S408N Missense 14/105 - 1
1-237608753-C-G c.1223C>G p.S408C Missense 14/105 - 1
1-237608753-C-T c.1223C>T p.S408F Missense 14/105 - 1
1-237608754-C-A c.1224C>A p.S408= Synonymous 14/105 - 1
1-237608754-C-G c.1224C>G p.S408= Synonymous 14/105 - 2
1-237608754-C-T c.1224C>T p.S408= Synonymous 14/105 - 1
1-237608757-G-A c.1227G>A p.Q409= Synonymous 14/105 - 1
1-237608758-C-T c.1228C>T p.H410Y Missense 14/105 - 1
1-237608761-G-A c.1231G>A p.E411K Missense 14/105 - 5
1-237608762-A-T c.1232A>T p.E411V Missense 14/105 - 1
1-237608763-A-G c.1233A>G p.E411= Synonymous 14/105 - 1
1-237608764-G-C c.1234G>C p.E412Q Missense 14/105 - 1
1-237608765-A-G c.1235A>G p.E412G Missense 14/105 - 1
1-237608766-A-C c.1236A>C p.E412D Missense 14/105 - 2
1-237608766-A-T c.1236A>T p.E412D Missense 14/105 - 4
1-237608767-TC-AG c.1237_1238delinsAG p.S413R Missense 14/105 - 1
1-237608767-T-G c.1237T>G p.S413A Missense 14/105 - 3
1-237608768-C-T c.1238C>T p.S413L Missense 14/105 - 1
1-237608770-C-T c.1240C>T p.R414C Missense 14/105 - 17
1-237608771-G-A c.1241G>A p.R414H Missense 14/105 - 12
1-237608771-G-T c.1241G>T p.R414L Missense 14/105 - 8
1-237608772-C-A c.1242C>A p.R414= Synonymous 14/105 - 3
1-237608772-C-G c.1242C>G p.R414= Synonymous 14/105 - 4
1-237608772-C-T c.1242C>T p.R414= Synonymous 14/105 - 3
1-237608773-A-C c.1243A>C p.T415P Missense 14/105 - 1
1-237608773-A-G c.1243A>G p.T415A Missense 14/105 - 2
1-237608774-C-A c.1244C>A p.T415K Missense 14/105 - 1
1-237608774-C-G c.1244C>G p.T415R Missense 14/105 - 7
1-237608776-G-A c.1246G>A p.A416T Missense 14/105 - 1
1-237608777-C-A c.1247C>A p.A416D Missense 14/105 - 1
1-237608777-C-T c.1247C>T p.A416V Missense 14/105 - 2
1-237608779-C-G c.1249C>G p.R417G Missense 14/105 - 1
1-237608779-C-T c.1249C>T p.R417* Nonsense 14/105 - 2
1-237608780-G-A c.1250G>A p.R417Q Missense 14/105 - 6
1-237608780-GA-AT c.1250_1251delinsAT p.R417H Missense 14/105 - 1
1-237608780-G-C c.1250G>C p.R417P Missense 14/105 - 4
1-237608780-G-T c.1250G>T p.R417L Missense 14/105 - 2
1-237608782-G-A c.1252G>A p.V418I Missense 14/105 - 1
1-237608785-A-G c.1255A>G p.I419V Missense 14/105 - 1
1-237608785-A-T c.1255A>T p.I419F Missense 14/105 - 10
1-237608785-ATC-TGG c.1255_1257delinsTGG p.I419W Missense 14/105 - 1
1-237608788-C-A c.1258C>A p.R420= Synonymous 14/105 - 5
1-237608788-CGG-TGT c.1258_1260delinsTGT p.R420C Missense 14/105 - 1
1-237608788-C-T c.1258C>T p.R420W Missense 14/105 - 40
1-237608790-G-A c.1260G>A p.R420= Synonymous 14/105 - 3
1-237608790-G-C c.1260G>C p.R420= Synonymous 14/105 - 3
1-237608790-G-T c.1260G>T p.R420= Synonymous 14/105 - 6
1-237608789-G-A c.1259G>A p.R420Q Missense 14/105 - 46
1-237608789-GG-AT c.1259_1260delinsAT p.R420H Missense 14/105 - 1
1-237608789-G-T c.1259G>T p.R420L Missense 14/105 - 3
1-237608791-AG-TT c.1261_1262delinsTT p.S421F Missense 14/105 - 1
1-237608791-A-C c.1261A>C p.S421R Missense 14/105 - 1
1-237608793-C-A c.1263C>A p.S421R Missense 14/105 - 3
1-237608793-C-G c.1263C>G p.S421R Missense 14/105 - 1
1-237608793-C-T c.1263C>T p.S421= Synonymous 14/105 - 1
1-237608794-A-G c.1264A>G p.T422A Missense 14/105 - 1
1-237608796-A-C c.1266A>C p.T422= Synonymous 14/105 - 2
1-237608796-A-G c.1266A>G p.T422= Synonymous 14/105 - 3
1-237608796-A-T c.1266A>T p.T422= Synonymous 14/105 - 2
1-237608797-G-A c.1267G>A p.V423I Missense 14/105 - 2
1-237608798-T-C c.1268T>C p.V423A Missense 14/105 - 2
1-237608800-T-G c.1270T>G p.F424V Missense 14/105 - 1
1-237608801-T-A c.1271T>A p.F424Y Missense 14/105 - 1
1-237608802-C-A c.1272C>A p.F424L Missense 14/105 - 1
1-237608802-C-G c.1272C>G p.F424L Missense 14/105 - 1
1-237608802-C-T c.1272C>T p.F424= Synonymous 14/105 - 3
1-237608803-C-A c.1273C>A p.L425I Missense 14/105 - 1
1-237608804-T-C c.1274T>C p.L425P Missense 14/105 - 1
1-237608807-T-C c.1277T>C p.F426S Missense 14/105 - 1
1-237608808-C-A c.1278C>A p.F426L Missense 14/105 - 1
1-237608808-C-T c.1278C>T p.F426= Synonymous 14/105 - 4
1-237608809-A-C c.1279A>C p.N427H Missense 14/105 - 1
1-237608810-A-G c.1280A>G p.N427S Missense 14/105 - 1
1-237608811-T-A c.1281T>A p.N427K Missense 14/105 - 2
1-237608811-T-C c.1281T>C p.N427= Synonymous 14/105 - 3
1-237608811-T-G c.1281T>G p.N427K Missense 14/105 - 1
1-237608812-AGA-CAT c.1282_1284delinsCAT p.R428H Missense 14/105 - 1
1-237608812-AG-CA c.1282_1283delinsCA p.R428Q Missense 14/105 - 1
1-237608813-G-A c.1283G>A p.R428K Missense 14/105 - 1
1-237608814-A-T c.1284A>T p.R428S Missense 14/105 - 1
1-237608816-T-G c.1286T>G p.F429C Missense 14/105 - 2
1-237608817-T-C c.1287T>C p.F429= Synonymous 14/105 - 4
1-237608819-T-A c.1289T>A p.I430K Missense 14/105 - 1
1-237608821-A-T c.1291A>T p.R431W Missense 14/105 - 3
1-237608822-G-A c.1292G>A p.R431K Missense 14/105 - 2
1-237608822-G-T c.1292G>T p.R431M Missense 14/105 - 1
1-237608842-C-T c.1292+20C>T - IntronicSNV - 14/104 2
1-237608843-G-A c.1292+21G>A - IntronicSNV - 14/104 1
1-237608843-G-C c.1292+21G>C - IntronicSNV - 14/104 1
1-237611483-T-A c.1292+2661T>A - IntronicSNV - 14/104 1
1-237617098-T-C c.1293-593T>C - IntronicSNV - 14/104 1
1-237617399-A-C c.1293-292A>C - IntronicSNV - 14/104 2
1-237617419-T-A c.1293-272T>A - IntronicSNV - 14/104 1
1-237617425-T-C c.1293-266T>C - IntronicSNV - 14/104 1
1-237608821-A-C c.1291A>C p.R431= Synonymous 14/105 - 2
1-237617691-G-A c.1293G>A p.R431= Synonymous 15/105 - 2
1-237617692-G-A c.1294G>A p.G432S Missense 15/105 - 2
1-237617692-G-C c.1294G>C p.G432R Missense 15/105 - 2
1-237617692-GGC-TGG c.1294_1296delinsTGG p.G432W Missense 15/105 - 1
1-237617692-G-T c.1294G>T p.G432C Missense 15/105 - 1
1-237617693-G-T c.1295G>T p.G432V Missense 15/105 - 3
1-237617694-C-A c.1296C>A p.G432= Synonymous 15/105 - 1
1-237617696-T-C c.1298T>C p.L433P Missense 15/105 - 23
1-237617697-T-A c.1299T>A p.L433= Synonymous 15/105 - 2
1-237617697-T-C c.1299T>C p.L433= Synonymous 15/105 - 2
1-237617697-T-G c.1299T>G p.L433= Synonymous 15/105 - 2
1-237617698-G-A c.1300G>A p.D434N Missense 15/105 - 2
1-237617701-G-T c.1303G>T p.A435S Missense 15/105 - 2
1-237617702-C-T c.1304C>T p.A435V Missense 15/105 - 1
1-237617704-C-A c.1306C>A p.L436I Missense 15/105 - 1
1-237617704-C-T c.1306C>T p.L436F Missense 15/105 - 1
1-237617704-CTC-ATG c.1306_1308delinsATG p.L436M Missense 15/105 - 1
1-237617706-C-T c.1308C>T p.L436= Synonymous 15/105 - 1
1-237617707-A-C c.1309A>C p.S437R Missense 15/105 - 1
1-237617707-A-G c.1309A>G p.S437G Missense 15/105 - 1
1-237617708-G-A c.1310G>A p.S437N Missense 15/105 - 1
1-237617709-C-A c.1311C>A p.S437R Missense 15/105 - 1
1-237617709-C-T c.1311C>T p.S437= Synonymous 15/105 - 3
1-237617711-A-G c.1313A>G p.K438R Missense 15/105 - 1
1-237617712-G-A c.1314G>A p.K438= Synonymous 15/105 - 1
1-237617712-G-C c.1314G>C p.K438N Missense 15/105 - 1
1-237617714-A-C c.1316A>C p.K439T Missense 15/105 - 1
1-237617715-A-G c.1317A>G p.K439= Synonymous 15/105 - 1
1-237617716-G-A c.1318G>A p.A440T Missense 15/105 - 2
1-237617717-C-A c.1319C>A p.A440E Missense 15/105 - 1
1-237617717-C-T c.1319C>T p.A440V Missense 15/105 - 5
1-237617718-G-A c.1320G>A p.A440= Synonymous 15/105 - 4
1-237617718-G-C c.1320G>C p.A440= Synonymous 15/105 - 3
1-237617718-G-T c.1320G>T p.A440= Synonymous 15/105 - 3
1-237617722-G-A c.1324G>A p.A442T Missense 15/105 - 5
1-237617722-G-T c.1324G>T p.A442S Missense 15/105 - 2
1-237617723-C-T c.1325C>T p.A442V Missense 15/105 - 3
1-237617725-TC-CT c.1327_1328delinsCT p.S443L Missense 15/105 - 2
1-237617729-C-T c.1331C>T p.T444I Missense 15/105 - 3
1-237617733-C-A c.1335C>A p.V445= Synonymous 15/105 - 3
1-237617733-C-G c.1335C>G p.V445= Synonymous 15/105 - 3
1-237617733-C-T c.1335C>T p.V445= Synonymous 15/105 - 4
1-237617734-G-A c.1336G>A p.D446N Missense 15/105 - 2
1-237617734-G-T c.1336G>T p.D446Y Missense 15/105 - 1
1-237617737-TTG-ATC c.1339_1341delinsATC p.L447I Missense 15/105 - 2
1-237617739-TG-T c.1341del p.L447Ffs*3 Frameshift 15/105 - 1
1-237617740-C-A c.1342C>A p.P448T Missense 15/105 - 1
1-237617740-C-T c.1342C>T p.P448S Missense 15/105 - 1
1-237617741-C-A c.1343C>A p.P448H Missense 15/105 - 1
1-237617741-C-T c.1343C>T p.P448L Missense 15/105 - 1
1-237617742-T-A c.1344T>A p.P448= Synonymous 15/105 - 1
1-237617742-T-C c.1344T>C p.P448= Synonymous 15/105 - 4
1-237617742-T-G c.1344T>G p.P448= Synonymous 15/105 - 1
1-237617744-T-A c.1346T>A p.I449K Missense 15/105 - 1
1-237617744-TA-AC c.1346_1347delinsAC p.I449N Missense 15/105 - 1
1-237617744-T-G c.1346T>G p.I449R Missense 15/105 - 1
1-237617745-A-G c.1347A>G p.I449M Missense 15/105 - 1
1-237617746-G-A c.1348G>A p.E450K Missense 15/105 - 1
1-237617746-G-C c.1348G>C p.E450Q Missense 15/105 - 2
1-237617749-TC-AT c.1351_1352delinsAT p.S451I Missense 15/105 - 1
1-237617749-TC-CG c.1351_1352delinsCG p.S451R Missense 15/105 - 1
1-237617750-C-T c.1352C>T p.S451F Missense 15/105 - 1
1-237617752-G-A c.1354G>A p.V452I Missense 15/105 - 6
1-237617752-G-T c.1354G>T p.V452L Missense 15/105 - 1
1-237617755-A-C c.1357A>C p.S453R Missense 15/105 - 2
1-237617755-A-T c.1357A>T p.S453C Missense 15/105 - 2
1-237617756-G-A c.1358G>A p.S453N Missense 15/105 - 3
1-237617756-G-C c.1358G>C p.S453T Missense 15/105 - 2
1-237617756-G-T c.1358G>T p.S453I Missense 15/105 - 3
1-237617757-C-A c.1359C>A p.S453R Missense 15/105 - 1
1-237617757-C-G c.1359C>G p.S453R Missense 15/105 - 1
1-237617757-C-T c.1359C>T p.S453= Synonymous 15/105 - 25
1-237617758-C-A c.1360C>A p.L454I Missense 15/105 - 2
1-237617758-C-G c.1360C>G p.L454V Missense 15/105 - 1
1-237617758-CTA-ATG c.1360_1362delinsATG p.L454M Missense 15/105 - 2
1-237617758-C-T c.1360C>T p.L454= Synonymous 15/105 - 3
1-237617760-A-C c.1362A>C p.L454= Synonymous 15/105 - 3
1-237617760-A-G c.1362A>G p.L454= Synonymous 15/105 - 2
1-237617760-A-T c.1362A>T p.L454= Synonymous 15/105 - 2
1-237617761-A-C c.1363A>C p.S455R Missense 15/105 - 1
1-237617761-A-T c.1363A>T p.S455C Missense 15/105 - 1
1-237617762-G-A c.1364G>A p.S455N Missense 15/105 - 3
1-237617762-G-C c.1364G>C p.S455T Missense 15/105 - 1
1-237617764-C-A c.1366C>A p.L456M Missense 15/105 - 4
1-237617769-G-C c.1371G>C p.Q457H Missense 15/105 - 1
1-237617769-G-T c.1371G>T p.Q457H Missense 15/105 - 4
1-237617770-G-A c.1372G>A p.D458N Missense 15/105 - 1
1-237617770-G-T c.1372G>T p.D458Y Missense 15/105 - 2
1-237617773-C-A c.1375C>A p.L459I Missense 15/105 - 3
1-237617773-C-G c.1375C>G p.L459V Missense 15/105 - 2
1-237617773-C-T c.1375C>T p.L459F Missense 15/105 - 1
1-237617774-T-G c.1376T>G p.L459R Missense 15/105 - 1
1-237617775-C-T c.1377C>T p.L459= Synonymous 15/105 - 1
1-237617776-A-G c.1378A>G p.I460V Missense 15/105 - 3
1-237617778-T-A c.1380T>A p.I460= Synonymous 15/105 - 1
1-237617778-T-C c.1380T>C p.I460= Synonymous 15/105 - 1
1-237617779-G-T c.1381G>T p.G461C Missense 15/105 - 2
1-237617780-G-C c.1382G>C p.G461A Missense 15/105 - 1
1-237617780-G-T c.1382G>T p.G461V Missense 15/105 - 3
1-237617781-C-A c.1383C>A p.G461= Synonymous 15/105 - 1
1-237617781-C-G c.1383C>G p.G461= Synonymous 15/105 - 1
1-237617781-C-T c.1383C>T p.G461= Synonymous 15/105 - 1
1-237617784-C-A c.1386C>A p.Y462* Nonsense 15/105 - 1
1-237617784-C-G c.1386C>G p.Y462* Nonsense 15/105 - 1
1-237617784-C-T c.1386C>T p.Y462= Synonymous 15/105 - 1
1-237617785-T-A c.1387T>A p.F463I Missense 15/105 - 1
1-237617785-T-C c.1387T>C p.F463L Missense 15/105 - 3
1-237617785-T-G c.1387T>G p.F463V Missense 15/105 - 1
1-237617787-C-A c.1389C>A p.F463L Missense 15/105 - 4
1-237617787-C-G c.1389C>G p.F463L Missense 15/105 - 3
1-237617787-C-T c.1389C>T p.F463= Synonymous 15/105 - 3
1-237617788-C-G c.1390C>G p.H464D Missense 15/105 - 1
1-237617789-A-T c.1391A>T p.H464L Missense 15/105 - 1
1-237617790-C-A c.1392C>A p.H464Q Missense 15/105 - 7
1-237617790-C-G c.1392C>G p.H464Q Missense 15/105 - 3
1-237617790-C-T c.1392C>T p.H464= Synonymous 15/105 - 1
1-237617791-C-T c.1393C>T p.P465S Missense 15/105 - 3
1-237617792-C-G c.1394C>G p.P465R Missense 15/105 - 2
1-237617792-C-T c.1394C>T p.P465L Missense 15/105 - 2
1-237617793-C-A c.1395C>A p.P465= Synonymous 15/105 - 1
1-237617794-C-G c.1396C>G p.P466A Missense 15/105 - 6
1-237617794-C-T c.1396C>T p.P466S Missense 15/105 - 2
1-237617789-A-AC c.1397dup p.D467Rfs*2 Frameshift 15/105 - 2
1-237617789-AC-A c.1397del p.P466Qfs*5 Frameshift 15/105 - 6
1-237617795-C-G c.1397C>G p.P466R Missense 15/105 - 1
1-237617796-A-C c.1398A>C p.P466= Synonymous 15/105 - 3
1-237617796-A-G c.1398A>G p.P466= Synonymous 15/105 - 3
1-237617796-A-T c.1398A>T p.P466= Synonymous 15/105 - 3
1-237617797-G-C c.1399G>C p.D467H Missense 15/105 - 1
1-237617799-T-A c.1401T>A p.D467E Missense 15/105 - 2
1-237617799-T-G c.1401T>G p.D467E Missense 15/105 - 2
1-237617800-G-A c.1402G>A p.E468K Missense 15/105 - 2
1-237617803-C-T c.1405C>T p.H469Y Missense 15/105 - 2
1-237617804-A-C c.1406A>C p.H469P Missense 15/105 - 1
1-237617805-T-C c.1407T>C p.H469= Synonymous 15/105 - 1
1-237617806-T-G c.1408T>G p.L470V Missense 15/105 - 5
1-237617808-A-C c.1410A>C p.L470F Missense 15/105 - 1
1-237617809-G-T c.1411G>T p.E471* Nonsense 15/105 - 1
1-237617811-G-A c.1413G>A p.E471= Synonymous 15/105 - 1
1-237617813-A-T c.1415A>T p.H472L Missense 15/105 - 1
1-237617815-G-A c.1417G>A p.E473K Missense 15/105 - 2
1-237617815-G-C c.1417G>C p.E473Q Missense 15/105 - 1
1-237617821-A-C c.1423A>C p.K475Q Missense 15/105 - 1
1-237617821-A-T c.1423A>T p.K475* Nonsense 15/105 - 1
1-237617826-G-C c.1428G>C p.Q476H Missense 15/105 - 1
1-237617826-G-T c.1428G>T p.Q476H Missense 15/105 - 2
1-237617829-C-T c.1431C>T p.N477= Synonymous 15/105 - 1
1-237617830-AG-CT c.1432_1433inv p.R478L Missense 15/105 - 1
1-237617833-C-A c.1435C>A p.L479I Missense 15/105 - 1
1-237617835-A-C c.1437A>C p.L479= Synonymous 15/105 - 1
1-237617836-CG-AA c.1438_1439delinsAA p.R480K Missense 15/105 - 1
1-237617836-C-T c.1438C>T p.R480* Nonsense 15/105 - 3
1-237617837-G-A c.1439G>A p.R480Q Missense 15/105 - 3
1-237617837-GA-AT c.1439_1440delinsAT p.R480H Missense 15/105 - 1
1-237617837-G-T c.1439G>T p.R480L Missense 15/105 - 2
1-237617838-A-C c.1440A>C p.R480= Synonymous 15/105 - 1
1-237617839-G-C c.1441G>C p.A481P Missense 15/105 - 3
1-237617840-C-T c.1442C>T p.A481V Missense 15/105 - 1
1-237617841-C-A c.1443C>A p.A481= Synonymous 15/105 - 1
1-237617841-C-G c.1443C>G p.A481= Synonymous 15/105 - 3
1-237617841-C-T c.1443C>T p.A481= Synonymous 15/105 - 4
1-237617842-C-T c.1444C>T p.L482= Synonymous 15/105 - 1
1-237617842-CTG-TTT c.1444_1446delinsTTT p.L482F Missense 15/105 - 1
1-237617847-G-A c.1449G>A p.K483= Synonymous 15/105 - 3
1-237617847-G-C c.1449G>C p.K483N Missense 15/105 - 2
1-237617847-G-T c.1449G>T p.K483N Missense 15/105 - 2
1-237617851-C-A c.1453C>A p.R485= Synonymous 15/105 - 3
1-237617851-C-T c.1453C>T p.R485W Missense 15/105 - 6
1-237617853-G-A c.1455G>A p.R485= Synonymous 15/105 - 1
1-237617853-G-C c.1455G>C p.R485= Synonymous 15/105 - 1
1-237617853-G-T c.1455G>T p.R485= Synonymous 15/105 - 1
1-237617852-G-A c.1454G>A p.R485Q Missense 15/105 - 7
1-237617854-C-T c.1456C>T p.Q486* Nonsense 15/105 - 1
1-237617856-A-C c.1458A>C p.Q486H Missense 15/105 - 1
1-237617856-A-T c.1458A>T p.Q486H Missense 15/105 - 1
1-237617860-C-A c.1462C>A p.L488I Missense 15/105 - 4
1-237617861-T-C c.1463T>C p.L488P Missense 15/105 - 1
1-237617862-C-A c.1464C>A p.L488= Synonymous 15/105 - 3
1-237617862-C-G c.1464C>G p.L488= Synonymous 15/105 - 2
1-237617862-C-T c.1464C>T p.L488= Synonymous 15/105 - 4
1-237617863-T-G c.1465T>G p.F489V Missense 15/105 - 1
1-237617865-C-T c.1467C>T p.F489= Synonymous 15/105 - 4
1-237617866-C-T c.1468C>T p.Q490* Nonsense 15/105 - 1
1-237617867-A-C c.1469A>C p.Q490P Missense 15/105 - 1
1-237617868-G-T c.1470G>T p.Q490H Missense 15/105 - 2
1-237617869-G-A c.1471G>A p.E491K Missense 15/105 - 3
1-237617871-A-AT c.1473_1474insT p.E492* Nonsense 15/105 - 2
1-237617871-A-C c.1473A>C p.E491D Missense 15/105 - 1
1-237617871-A-AG c.1474dup p.E492Gfs*9 SpliceDonorInsertion 15/105 - 1
1-237617872-G-A c.1474G>A p.E492K Missense 15/105 - 2
1-237617873-A-T c.1475A>T p.E492V Missense 15/105 - 1
1-237617878-C-T c.1476+4C>T - IntronicSNV - 15/104 5
1-237617879-G-A c.1476+5G>A - IntronicSNV - 15/104 1
1-237617890-C-T c.1476+16C>T - IntronicSNV - 15/104 1
1-237617904-C-T c.1476+30C>T - IntronicSNV - 15/104 1
1-237617933-G-T c.1476+59G>T - IntronicSNV - 15/104 1
1-237618034-G-A c.1476+160G>A - IntronicSNV - 15/104 2
1-237619559-A-G c.1477-341A>G - IntronicSNV - 15/104 1
1-237619786-A-G c.1477-114A>G - IntronicSNV - 15/104 1
1-237619876-T-TTG c.1477-23_1477-22insGT - IntronicInsertion - 15/104 2
1-237619900-G-A c.1477G>A p.G493R Missense 16/105 - 1
1-237619900-G-C c.1477G>C p.G493R Missense 16/105 - 1
1-237619900-G-T c.1477G>T p.G493* Nonsense 16/105 - 1
1-237619905-G-A c.1482G>A p.M494I Missense 16/105 - 1
1-237619905-G-C c.1482G>C p.M494I Missense 16/105 - 1
1-237619905-G-T c.1482G>T p.M494I Missense 16/105 - 1
1-237619908-C-A c.1485C>A p.I495= Synonymous 16/105 - 2
1-237619908-C-T c.1485C>T p.I495= Synonymous 16/105 - 1
1-237619910-A-T c.1487A>T p.N496I Missense 16/105 - 1
1-237619914-C-A c.1491C>A p.L497= Synonymous 16/105 - 3
1-237619914-C-G c.1491C>G p.L497= Synonymous 16/105 - 3
1-237619914-C-T c.1491C>T p.L497= Synonymous 16/105 - 9
1-237619915-G-C c.1492G>C p.V498L Missense 16/105 - 1
1-237619915-G-T c.1492G>T p.V498L Missense 16/105 - 1
1-237619916-T-C c.1493T>C p.V498A Missense 16/105 - 1
1-237619918-C-T c.1495C>T p.L499F Missense 16/105 - 1
1-237619919-T-C c.1496T>C p.L499P Missense 16/105 - 2
1-237619921-G-C c.1498G>C p.E500Q Missense 16/105 - 1
1-237619923-G-C c.1500G>C p.E500D Missense 16/105 - 1
1-237619923-G-T c.1500G>T p.E500D Missense 16/105 - 1
1-237619924-T-A c.1501T>A p.C501S Missense 16/105 - 2
1-237619925-G-A c.1502G>A p.C501Y Missense 16/105 - 1
1-237619925-G-T c.1502G>T p.C501F Missense 16/105 - 1
1-237619931-A-G c.1508A>G p.D503G Missense 16/105 - 2
1-237619932-C-A c.1509C>A p.D503E Missense 16/105 - 3
1-237619932-C-G c.1509C>G p.D503E Missense 16/105 - 1
1-237619933-C-T c.1510C>T p.R504C Missense 16/105 - 3
1-237619934-G-A c.1511G>A p.R504H Missense 16/105 - 5
1-237619935-T-A c.1512T>A p.R504= Synonymous 16/105 - 1
1-237619935-T-C c.1512T>C p.R504= Synonymous 16/105 - 1
1-237619935-T-G c.1512T>G p.R504= Synonymous 16/105 - 1
1-237619936-T-G c.1513T>G p.L505V Missense 16/105 - 1
1-237619939-C-G c.1516C>G p.H506D Missense 16/105 - 1
1-237619939-C-T c.1516C>T p.H506Y Missense 16/105 - 1
1-237619940-A-C c.1517A>C p.H506P Missense 16/105 - 1
1-237619941-C-A c.1518C>A p.H506Q Missense 16/105 - 1
1-237619941-C-G c.1518C>G p.H506Q Missense 16/105 - 3
1-237619941-C-T c.1518C>T p.H506= Synonymous 16/105 - 1
1-237619942-G-A c.1519G>A p.V507I Missense 16/105 - 15
1-237619942-G-C c.1519G>C p.V507L Missense 16/105 - 1
1-237619942-G-T c.1519G>T p.V507F Missense 16/105 - 1
1-237619946-A-G c.1523A>G p.Y508C Missense 16/105 - 2
1-237619948-A-T c.1525A>T p.S509C Missense 16/105 - 3
1-237619949-G-A c.1526G>A p.S509N Missense 16/105 - 2
1-237619948-A-C c.1525A>C p.S509R Missense 16/105 - 1
1-237619950-C-A c.1527C>A p.S509R Missense 16/105 - 1
1-237619950-C-G c.1527C>G p.S509R Missense 16/105 - 1
1-237619953-T-C c.1530T>C p.S510= Synonymous 16/105 - 1
1-237619954-G-A c.1531G>A p.A511T Missense 16/105 - 2
1-237619955-C-T c.1532C>T p.A511V Missense 16/105 - 1
1-237619957-G-C c.1534G>C p.A512P Missense 16/105 - 2
1-237619957-G-T c.1534G>T p.A512S Missense 16/105 - 1
1-237619961-A-T c.1538A>T p.H513L Missense 16/105 - 1
1-237619963-T-C c.1540T>C p.F514L Missense 16/105 - 1
1-237619965-T-A c.1542T>A p.F514L Missense 16/105 - 1
1-237619965-T-G c.1542T>G p.F514L Missense 16/105 - 1
1-237619965-T-C c.1542T>C p.F514= Synonymous 16/105 - 1
1-237619967-C-A c.1544C>A p.A515D Missense 16/105 - 3
1-237619969-G-C c.1546G>C p.D516H Missense 16/105 - 1
1-237619969-G-T c.1546G>T p.D516Y Missense 16/105 - 1
1-237619971-T-C c.1548T>C p.D516= Synonymous 16/105 - 1
1-237619972-G-A c.1549G>A p.V517I Missense 16/105 - 1
1-237619972-G-C c.1549G>C p.V517L Missense 16/105 - 1
1-237619972-GTT-ATG c.1549_1551delinsATG p.V517M Missense 16/105 - 1
1-237619974-T-A c.1551T>A p.V517= Synonymous 16/105 - 1
1-237619974-T-C c.1551T>C p.V517= Synonymous 16/105 - 1
1-237619974-T-G c.1551T>G p.V517= Synonymous 16/105 - 1
1-237619975-GCT-TAA c.1552_1554delinsTAA p.A518* Nonsense 16/105 - 1
1-237619976-C-A c.1553C>A p.A518D Missense 16/105 - 1
1-237619977-T-A c.1554T>A p.A518= Synonymous 16/105 - 1
1-237619977-T-C c.1554T>C p.A518= Synonymous 16/105 - 1
1-237619977-T-G c.1554T>G p.A518= Synonymous 16/105 - 1
1-237619980-G-A c.1557G>A p.G519= Synonymous 16/105 - 1
1-237619980-G-T c.1557G>T p.G519= Synonymous 16/105 - 1
1-237619981-C-A c.1558C>A p.R520= Synonymous 16/105 - 1
1-237619981-C-T c.1558C>T p.R520* Nonsense 16/105 - 3
1-237619983-A-C c.1560A>C p.R520= Synonymous 16/105 - 1
1-237619983-A-G c.1560A>G p.R520= Synonymous 16/105 - 2
1-237619983-A-T c.1560A>T p.R520= Synonymous 16/105 - 1
1-237619982-G-A c.1559G>A p.R520Q Missense 16/105 - 2
1-237619982-G-T c.1559G>T p.R520L Missense 16/105 - 1
1-237619984-G-A c.1561G>A p.E521K Missense 16/105 - 4
1-237619984-G-T c.1561G>T p.E521* Nonsense 16/105 - 1
1-237619987-G-A c.1564G>A p.A522T Missense 16/105 - 1
1-237619987-G-T c.1564G>T p.A522S Missense 16/105 - 2
1-237619988-C-A c.1565C>A p.A522E Missense 16/105 - 2
1-237619988-C-G c.1565C>G p.A522G Missense 16/105 - 1
1-237619988-C-T c.1565C>T p.A522V Missense 16/105 - 1
1-237619990-G-C c.1567G>C p.G523R Missense 16/105 - 2
1-237619990-G-T c.1567G>T p.G523* Nonsense 16/105 - 1
1-237619991-G-T c.1568G>T p.G523V Missense 16/105 - 1
1-237619993-G-C c.1570G>C p.E524Q Missense 16/105 - 2
1-237619995-G-T c.1572G>T p.E524D Missense 16/105 - 3
1-237619996-T-G c.1573T>G p.S525A Missense 16/105 - 1
1-237619997-C-G c.1574C>G p.S525C Missense 16/105 - 4
1-237619997-C-T c.1574C>T p.S525F Missense 16/105 - 1
1-237619998-T-A c.1575T>A p.S525= Synonymous 16/105 - 1
1-237619998-T-C c.1575T>C p.S525= Synonymous 16/105 - 1
1-237619998-T-G c.1575T>G p.S525= Synonymous 16/105 - 1
1-237619999-T-A c.1576T>A p.W526R Missense 16/105 - 4
1-237619999-T-C c.1576T>C p.W526R Missense 16/105 - 4
1-237620000-G-A c.1577G>A p.W526* Nonsense 16/105 - 2
1-237620000-G-C c.1577G>C p.W526S Missense 16/105 - 1
1-237620001-G-A c.1578G>A p.W526* Nonsense 16/105 - 1
1-237620002-A-C c.1579A>C p.K527Q Missense 16/105 - 1
1-237620003-A-T c.1580A>T p.K527I Missense 16/105 - 1
1-237620005-T-A c.1582T>A p.S528T Missense 16/105 - 1
1-237620005-T-C c.1582T>C p.S528P Missense 16/105 - 1
1-237620006-C-A c.1583C>A p.S528Y Missense 16/105 - 1
1-237620006-C-CT c.1583_1584insT p.I529Hfs*7 Frameshift 16/105 - 1
1-237620006-C-T c.1583C>T p.S528F Missense 16/105 - 4
1-237620007-C-A c.1584C>A p.S528= Synonymous 16/105 - 4
1-237620007-C-G c.1584C>G p.S528= Synonymous 16/105 - 4
1-237620007-C-T c.1584C>T p.S528= Synonymous 16/105 - 3
1-237620011-C-G c.1588C>G p.L530V Missense 16/105 - 2
1-237620011-CTG-TTT c.1588_1590delinsTTT p.L530F Missense 16/105 - 1
1-237620011-C-T c.1588C>T p.L530= Synonymous 16/105 - 1
1-237620013-G-A c.1590G>A p.L530= Synonymous 16/105 - 1
1-237620013-G-C c.1590G>C p.L530= Synonymous 16/105 - 1
1-237620013-G-T c.1590G>T p.L530= Synonymous 16/105 - 3
1-237620015-A-T c.1592A>T p.N531I Missense 16/105 - 1
1-237620017-TC-AA c.1594_1595delinsAA p.S532N Missense 16/105 - 1
1-237620018-C-A c.1595C>A p.S532Y Missense 16/105 - 3
1-237620018-C-T c.1595C>T p.S532F Missense 16/105 - 4
1-237620020-C-A c.1597C>A p.L533M Missense 16/105 - 1
1-237620020-C-T c.1597C>T p.L533= Synonymous 16/105 - 3
1-237620022-G-A c.1599G>A p.L533= Synonymous 16/105 - 1
1-237620022-G-C c.1599G>C p.L533= Synonymous 16/105 - 1
1-237620022-G-T c.1599G>T p.L533= Synonymous 16/105 - 2
1-237620023-T-C c.1600T>C p.Y534H Missense 16/105 - 6
1-237620024-A-T c.1601A>T p.Y534F Missense 16/105 - 1
1-237620026-G-A c.1603G>A p.E535K Missense 16/105 - 2
1-237620026-G-C c.1603G>C p.E535Q Missense 16/105 - 3
1-237620026-G-T c.1603G>T p.E535* Nonsense 16/105 - 2
1-237620027-A-G c.1604A>G p.E535G Missense 16/105 - 1
1-237620028-G-C c.1605G>C p.E535D Missense 16/105 - 3
1-237620028-G-T c.1605G>T p.E535D Missense 16/105 - 4
1-237620034-G-A c.1611G>A p.L537= Synonymous 16/105 - 2
1-237620035-G-A c.1612G>A p.A538T Missense 16/105 - 3
1-237620035-G-C c.1612G>C p.A538P Missense 16/105 - 2
1-237620035-G-T c.1612G>T p.A538S Missense 16/105 - 1
1-237620033-TG-T c.1612+1del - IntronicDeletion - 16/104 1
1-237620044-C-A c.1612+9C>A - IntronicSNV - 16/104 1
1-237620049-T-C c.1612+14T>C - IntronicSNV - 16/104 13
1-237620145-G-A c.1612+110G>A - IntronicSNV - 16/104 1
1-237620145-G-T c.1612+110G>T - IntronicSNV - 16/104 1
1-237620660-A-G c.1612+625A>G - IntronicSNV - 16/104 1
1-237620954-G-A c.1612+919G>A - IntronicSNV - 16/104 1
1-237621239-T-A c.1612+1204T>A - IntronicSNV - 16/104 1
1-237621239-T-C c.1612+1204T>C - IntronicSNV - 16/104 1
1-237621543-C-A c.1612+1508C>A - IntronicSNV - 16/104 1
1-237624942-T-A c.1612+4907T>A - IntronicSNV - 16/104 4
1-237624942-T-G c.1612+4907T>G - IntronicSNV - 16/104 4
1-237625197-A-G c.1612+5162A>G - IntronicSNV - 16/104 1
1-237625485-G-C c.1612+5450G>C - IntronicSNV - 16/104 1
1-237625656-G-A c.1612+5621G>A - IntronicSNV - 16/104 1
1-237625859-C-A c.1612+5824C>A - IntronicSNV - 16/104 1
1-237625859-C-G c.1612+5824C>G - IntronicSNV - 16/104 1
1-237629009-C-A c.1613-3383C>A - IntronicSNV - 16/104 1
1-237629009-C-T c.1613-3383C>T - IntronicSNV - 16/104 1
1-237632285-A-AT c.1613-107_1613-106insT - IntronicInsertion - 16/104 4
1-237632340-A-G c.1613-52A>G - IntronicSNV - 16/104 1
1-237632392-C-A c.1613C>A p.A538E Missense 17/105 - 1
1-237632392-C-T c.1613C>T p.A538V Missense 17/105 - 2
1-237632393-G-A c.1614G>A p.A538= Synonymous 17/105 - 5
1-237632393-G-C c.1614G>C p.A538= Synonymous 17/105 - 3
1-237632393-G-T c.1614G>T p.A538= Synonymous 17/105 - 4
1-237632397-C-A c.1618C>A p.L540I Missense 17/105 - 1
1-237632397-C-T c.1618C>T p.L540= Synonymous 17/105 - 4
1-237632403-AGA-CAT c.1624_1626delinsCAT p.R542H Missense 17/105 - 1
1-237632404-G-A c.1625G>A p.R542K Missense 17/105 - 6
1-237632403-A-C c.1624A>C p.R542= Synonymous 17/105 - 2
1-237632405-A-G c.1626A>G p.R542= Synonymous 17/105 - 2
1-237632405-A-T c.1626A>T p.R542S Missense 17/105 - 1
1-237632406-G-A c.1627G>A p.G543R Missense 17/105 - 7
1-237632406-G-C c.1627G>C p.G543R Missense 17/105 - 3
1-237632407-G-A c.1628G>A p.G543E Missense 17/105 - 11
1-237632412-C-A c.1633C>A p.R545S Missense 17/105 - 1
1-237632412-C-G c.1633C>G p.R545G Missense 17/105 - 4
1-237632412-C-T c.1633C>T p.R545C Missense 17/105 - 8
1-237632413-G-A c.1634G>A p.R545H Missense 17/105 - 2
1-237632413-G-T c.1634G>T p.R545L Missense 17/105 - 2
1-237632415-A-C c.1636A>C p.K546Q Missense 17/105 - 1
1-237632415-A-G c.1636A>G p.K546E Missense 17/105 - 1
1-237632416-A-C c.1637A>C p.K546T Missense 17/105 - 4
1-237632418-A-C c.1639A>C p.N547H Missense 17/105 - 1
1-237632419-A-C c.1640A>C p.N547T Missense 17/105 - 1
1-237632419-A-G c.1640A>G p.N547S Missense 17/105 - 1
1-237632421-T-A c.1642T>A p.C548S Missense 17/105 - 1
1-237632422-G-C c.1643G>C p.C548S Missense 17/105 - 2
1-237632423-T-A c.1644T>A p.C548* Nonsense 17/105 - 1
1-237632424-G-A c.1645G>A p.A549T Missense 17/105 - 2
1-237632425-C-A c.1646C>A p.A549D Missense 17/105 - 2
1-237632425-C-G c.1646C>G p.A549G Missense 17/105 - 4
1-237632425-C-T c.1646C>T p.A549V Missense 17/105 - 7
1-237632426-T-A c.1647T>A p.A549= Synonymous 17/105 - 1
1-237632426-T-C c.1647T>C p.A549= Synonymous 17/105 - 1
1-237632426-T-G c.1647T>G p.A549= Synonymous 17/105 - 1
1-237632427-C-T c.1648C>T p.Q550* Nonsense 17/105 - 1
1-237632428-A-C c.1649A>C p.Q550P Missense 17/105 - 3
1-237632430-T-C c.1651T>C p.F551L Missense 17/105 - 1
1-237632435-T-A c.1656T>A p.S552= Synonymous 17/105 - 1
1-237632435-T-C c.1656T>C p.S552= Synonymous 17/105 - 1
1-237632435-T-G c.1656T>G p.S552= Synonymous 17/105 - 1
1-237632437-G-A c.1658G>A p.G553D Missense 17/105 - 3
1-237632437-G-T c.1658G>T p.G553V Missense 17/105 - 5
1-237632438-C-A c.1659C>A p.G553= Synonymous 17/105 - 1
1-237632438-C-G c.1659C>G p.G553= Synonymous 17/105 - 1
1-237632438-C-T c.1659C>T p.G553= Synonymous 17/105 - 1
1-237632439-TC-AT c.1660_1661delinsAT p.S554I Missense 17/105 - 1
1-237632440-C-T c.1661C>T p.S554F Missense 17/105 - 2
1-237632441-C-T c.1662C>T p.S554= Synonymous 17/105 - 4
1-237632442-C-G c.1663C>G p.L555V Missense 17/105 - 2
1-237632442-C-T c.1663C>T p.L555F Missense 17/105 - 1
1-237632443-T-G c.1664T>G p.L555R Missense 17/105 - 1
1-237632444-C-A c.1665C>A p.L555= Synonymous 17/105 - 1
1-237632444-C-G c.1665C>G p.L555= Synonymous 17/105 - 1
1-237632444-C-T c.1665C>T p.L555= Synonymous 17/105 - 3
1-237632445-G-A c.1666G>A p.D556N Missense 17/105 - 1
1-237632447-C-G c.1668C>G p.D556E Missense 17/105 - 1
1-237632450-G-A c.1671G>A p.W557* Nonsense 17/105 - 1
1-237632451-T-A c.1672T>A p.L558M Missense 17/105 - 1
1-237632454-GAT-G c.1675_1676del p.I559Qfs*31 Frameshift 17/105 - 1
1-237632455-T-A c.1676T>A p.I559N Missense 17/105 - 1
1-237632456-C-A c.1677C>A p.I559= Synonymous 17/105 - 1
1-237632456-C-T c.1677C>T p.I559= Synonymous 17/105 - 1
1-237632458-G-T c.1679G>T p.S560I Missense 17/105 - 1
1-237632460-AG-CA c.1681_1682delinsCA p.R561Q Missense 17/105 - 1
1-237632460-AG-CT c.1681_1682inv p.R561L Missense 17/105 - 1
1-237632461-G-T c.1682G>T p.R561I Missense 17/105 - 8
1-237632462-A-G c.1683A>G p.R561= Synonymous 17/105 - 1
1-237632462-A-T c.1683A>T p.R561S Missense 17/105 - 1
1-237632463-TT-AG c.1684_1685delinsAG p.L562R Missense 17/105 - 1
1-237632468-A-C c.1689A>C p.E563D Missense 17/105 - 1
1-237632468-A-T c.1689A>T p.E563D Missense 17/105 - 1
1-237632470-G-A c.1691G>A p.R564K Missense 17/105 - 1
1-237632472-C-G c.1693C>G p.L565V Missense 17/105 - 1
1-237632473-T-C c.1694T>C p.L565P Missense 17/105 - 2
1-237632472-C-T c.1693C>T p.L565= Synonymous 17/105 - 1
1-237632474-G-A c.1695G>A p.L565= Synonymous 17/105 - 1
1-237632474-G-C c.1695G>C p.L565= Synonymous 17/105 - 1
1-237632474-G-T c.1695G>T p.L565= Synonymous 17/105 - 1
1-237632477-A-C c.1698A>C p.E566D Missense 17/105 - 2
1-237632477-A-G c.1698A>G p.E566= Synonymous 17/105 - 1
1-237632477-A-T c.1698A>T p.E566D Missense 17/105 - 1
1-237632478-G-A c.1699G>A p.A567T Missense 17/105 - 2
1-237632478-G-C c.1699G>C p.A567P Missense 17/105 - 1
1-237632478-G-T c.1699G>T p.A567S Missense 17/105 - 2
1-237632479-C-A c.1700C>A p.A567D Missense 17/105 - 2
1-237632479-C-T c.1700C>T p.A567V Missense 17/105 - 1
1-237632480-T-A c.1701T>A p.A567= Synonymous 17/105 - 1
1-237632480-T-C c.1701T>C p.A567= Synonymous 17/105 - 1
1-237632480-T-G c.1701T>G p.A567= Synonymous 17/105 - 1
1-237632482-C-A c.1703C>A p.S568Y Missense 17/105 - 1
1-237632483-T-C c.1704T>C p.S568= Synonymous 17/105 - 3
1-237632484-T-A c.1705T>A p.S569T Missense 17/105 - 1
1-237632487-G-A c.1708G>A p.G570S Missense 17/105 - 2
1-237632487-G-T c.1708G>T p.G570C Missense 17/105 - 2
1-237632488-G-C c.1708+1G>C - IntronicSNV - 17/104 1
1-237632545-G-A c.1708+58G>A - IntronicSNV - 17/104 1
1-237632553-TTAAGAC-T c.1708+66_1708+71del - IntronicDeletion - 17/104 1
1-237632554-AAGAC-A c.1708+69_1708+72del - IntronicDeletion - 17/104 1
1-237632556-AGAC-A c.1708+69_1708+71del - IntronicDeletion - 17/104 1
1-237632558-AC-A c.1708+71del - IntronicDeletion - 17/104 1
1-237632558-CA-C c.1708+92del - IntronicDeletion - 17/104 1
1-237632595-T-TGTG c.1708+115_1708+117dup - IntronicInsertion - 17/104 1
1-237632670-C-T c.1708+183C>T - IntronicSNV - 17/104 1
1-237632735-C-A c.1708+248C>A - IntronicSNV - 17/104 1
1-237632741-G-A c.1708+254G>A - IntronicSNV - 17/104 1
1-237634241-C-T c.1708+1754C>T - IntronicSNV - 17/104 1
1-237634431-A-G c.1708+1944A>G - IntronicSNV - 17/104 3
1-237635103-A-C c.1708+2616A>C - IntronicSNV - 17/104 1
1-237635303-C-A c.1708+2816C>A - IntronicSNV - 17/104 1
1-237635321-T-C c.1708+2834T>C - IntronicSNV - 17/104 1
1-237635564-C-T c.1708+3077C>T - IntronicSNV - 17/104 1
1-237636097-A-G c.1708+3610A>G - IntronicSNV - 17/104 1
1-237636097-A-T c.1708+3610A>T - IntronicSNV - 17/104 1
1-237636767-A-G c.1708+4280A>G - IntronicSNV - 17/104 1
1-237636767-A-T c.1708+4280A>T - IntronicSNV - 17/104 1
1-237645907-C-T c.1709-9199C>T - IntronicSNV - 17/104 1
1-237646357-C-T c.1709-8749C>T - IntronicSNV - 17/104 1
1-237652196-G-A c.1709-2910G>A - IntronicSNV - 17/104 1
1-237654831-G-T c.1709-275G>T - IntronicSNV - 17/104 3
1-237655106-G-A c.1709G>A p.G570D Missense 18/105 - 1
1-237655106-G-T c.1709G>T p.G570V Missense 18/105 - 1
1-237655109-T-A c.1712T>A p.I571N Missense 18/105 - 1
1-237655111-C-A c.1714C>A p.L572M Missense 18/105 - 1
1-237655111-C-T c.1714C>T p.L572= Synonymous 18/105 - 1
1-237655116-A-C c.1719A>C p.E573D Missense 18/105 - 1
1-237655116-A-T c.1719A>T p.E573D Missense 18/105 - 1
1-237655117-G-A c.1720G>A p.V574I Missense 18/105 - 1
1-237655118-T-G c.1721T>G p.V574G Missense 18/105 - 1
1-237655119-T-C c.1722T>C p.V574= Synonymous 18/105 - 1
1-237655120-T-C c.1723T>C p.L575= Synonymous 18/105 - 2
1-237655122-A-G c.1725A>G p.L575= Synonymous 18/105 - 2
1-237655122-A-C c.1725A>C p.L575F Missense 18/105 - 1
1-237655123-C-T c.1726C>T p.H576Y Missense 18/105 - 3
1-237655124-A-G c.1727A>G p.H576R Missense 18/105 - 1
1-237655125-C-A c.1728C>A p.H576Q Missense 18/105 - 1
1-237655125-C-G c.1728C>G p.H576Q Missense 18/105 - 1
1-237655126-TG-AC c.1729_1730delinsAC p.C577T Missense 18/105 - 1
1-237655127-G-A c.1730G>A p.C577Y Missense 18/105 - 2
1-237655129-G-A c.1732G>A p.V578I Missense 18/105 - 1
1-237655132-T-C c.1735T>C p.L579= Synonymous 18/105 - 1
1-237655132-TT-CC c.1735_1736delinsCC p.L579P Missense 18/105 - 1
1-237655134-A-G c.1737A>G p.L579= Synonymous 18/105 - 1
1-237655134-A-T c.1737A>T p.L579F Missense 18/105 - 1
1-237655135-G-T c.1738G>T p.V580L Missense 18/105 - 1
1-237655136-T-G c.1739T>G p.V580G Missense 18/105 - 1
1-237655138-G-A c.1741G>A p.E581K Missense 18/105 - 2
1-237655140-A-G c.1743A>G p.E581= Synonymous 18/105 - 1
1-237655142-G-A c.1745G>A p.S582N Missense 18/105 - 1
1-237655141-A-C c.1744A>C p.S582R Missense 18/105 - 1
1-237655143-T-A c.1746T>A p.S582R Missense 18/105 - 1
1-237655143-T-G c.1746T>G p.S582R Missense 18/105 - 1
1-237655144-C-A c.1747C>A p.P583T Missense 18/105 - 4
1-237655145-C-A c.1748C>A p.P583Q Missense 18/105 - 2
1-237655147-G-A c.1750G>A p.E584K Missense 18/105 - 2
1-237655148-A-G c.1751A>G p.E584G Missense 18/105 - 1
1-237655151-C-T c.1754C>T p.A585V Missense 18/105 - 1
1-237655152-T-A c.1755T>A p.A585= Synonymous 18/105 - 1
1-237655152-T-C c.1755T>C p.A585= Synonymous 18/105 - 1
1-237655152-T-G c.1755T>G p.A585= Synonymous 18/105 - 1
1-237655153-C-A c.1756C>A p.L586I Missense 18/105 - 1
1-237655153-C-G c.1756C>G p.L586V Missense 18/105 - 2
1-237655153-C-T c.1756C>T p.L586= Synonymous 18/105 - 1
1-237655155-A-C c.1758A>C p.L586= Synonymous 18/105 - 1
1-237655155-A-G c.1758A>G p.L586= Synonymous 18/105 - 1
1-237655155-A-T c.1758A>T p.L586= Synonymous 18/105 - 1
1-237655159-A-G c.1762A>G p.I588V Missense 18/105 - 1
1-237655165-A-T c.1768A>T p.K590* Nonsense 18/105 - 1
1-237655166-A-G c.1769A>G p.K590R Missense 18/105 - 1
1-237655167-A-G c.1770A>G p.K590= Synonymous 18/105 - 1
1-237655168-G-T c.1771G>T p.E591* Nonsense 18/105 - 1
1-237655169-A-G c.1772A>G p.E591G Missense 18/105 - 1
1-237655171-G-A c.1774G>A p.G592R Missense 18/105 - 1
1-237655171-G-C c.1774G>C p.G592R Missense 18/105 - 1
1-237655172-G-T c.1775G>T p.G592V Missense 18/105 - 1
1-237655173-A-T c.1776A>T p.G592= Synonymous 18/105 - 3
1-237655174-C-A c.1777C>A p.H593N Missense 18/105 - 1
1-237655176-T-C c.1779T>C p.H593= Synonymous 18/105 - 1
1-237655178-T-C c.1781T>C p.I594T Missense 18/105 - 1
1-237655184-C-T c.1787C>T p.S596F Missense 18/105 - 1
1-237655187-T-C c.1790T>C p.I597T Missense 18/105 - 1
1-237655188-T-A c.1791T>A p.I597= Synonymous 18/105 - 1
1-237655188-T-C c.1791T>C p.I597= Synonymous 18/105 - 1
1-237655189-A-G c.1792A>G p.I598V Missense 18/105 - 1
1-237655192-TC-AG c.1795_1796delinsAG p.S599R Missense 18/105 - 1
1-237655193-C-T c.1796C>T p.S599L Missense 18/105 - 1
1-237655195-C-G c.1798C>G p.L600V Missense 18/105 - 2
1-237655198-TTA-CAT c.1801_1803delinsCAT p.L601H Missense 18/105 - 1
1-237655201-G-C c.1804G>C p.D602H Missense 18/105 - 1
1-237655201-G-T c.1804G>T p.D602Y Missense 18/105 - 5
1-237655203-C-A c.1806C>A p.D602E Missense 18/105 - 1
1-237655203-C-G c.1806C>G p.D602E Missense 18/105 - 2
1-237655210-G-A c.1813G>A p.G605R Missense 18/105 - 1
1-237655210-G-C c.1813G>C p.G605R Missense 18/105 - 1
1-237655210-G-T c.1813G>T p.G605* Nonsense 18/105 - 1
1-237655214-G-T c.1817G>T p.R606I Missense 18/105 - 1
1-237655216-A-T c.1819A>T p.N607Y Missense 18/105 - 1
1-237655219-C-T c.1822C>T p.H608Y Missense 18/105 - 3
1-237655222-A-G c.1825A>G p.K609E Missense 18/105 - 1
1-237655364-AGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCCCACTGCAACCTCCGCCT-A c.1827+140_1827+198del - Unclassified - 18/104 2
1-237655624-G-T c.1827+400G>T - IntronicSNV - 18/104 1
1-237656018-A-C c.1828-236A>C - IntronicSNV - 18/104 1
1-237656018-A-T c.1828-236A>T - IntronicSNV - 18/104 1
1-237656124-A-G c.1828-130A>G - IntronicSNV - 18/104 1
1-237656172-A-G c.1828-82A>G - IntronicSNV - 18/104 1
1-237656181-A-G c.1828-73A>G - IntronicSNV - 18/104 2
1-237656185-A-G c.1828-69A>G - IntronicSNV - 18/104 3
1-237656254-G-T c.1828G>T p.V610F Missense 19/105 - 2
1-237656254-GTT-ATG c.1828_1830delinsATG p.V610M Missense 19/105 - 1
1-237656258-T-C c.1832T>C p.L611P Missense 19/105 - 1
1-237656257-C-T c.1831C>T p.L611= Synonymous 19/105 - 1
1-237656259-G-A c.1833G>A p.L611= Synonymous 19/105 - 2
1-237656259-G-C c.1833G>C p.L611= Synonymous 19/105 - 1
1-237656259-G-T c.1833G>T p.L611= Synonymous 19/105 - 1
1-237656260-G-T c.1834G>T p.D612Y Missense 19/105 - 1
1-237656263-G-A c.1837G>A p.V613I Missense 19/105 - 6
1-237656264-T-C c.1838T>C p.V613A Missense 19/105 - 1
1-237656265-C-A c.1839C>A p.V613= Synonymous 19/105 - 3
1-237656265-C-G c.1839C>G p.V613= Synonymous 19/105 - 2
1-237656265-C-T c.1839C>T p.V613= Synonymous 19/105 - 2
1-237656266-TT-CC c.1840_1841delinsCC p.L614P Missense 19/105 - 5
1-237656267-T-C c.1841T>C p.L614S Missense 19/105 - 2
1-237656270-G-A c.1844G>A p.C615Y Missense 19/105 - 1
1-237656270-G-T c.1844G>T p.C615F Missense 19/105 - 2
1-237656271-C-G c.1845C>G p.C615W Missense 19/105 - 1
1-237656271-C-T c.1845C>T p.C615= Synonymous 19/105 - 2
1-237656272-T-A c.1846T>A p.S616T Missense 19/105 - 1
1-237656273-C-A c.1847C>A p.S616* Nonsense 19/105 - 1
1-237656273-C-T c.1847C>T p.S616L Missense 19/105 - 4
1-237656274-A-C c.1848A>C p.S616= Synonymous 19/105 - 3
1-237656274-A-G c.1848A>G p.S616= Synonymous 19/105 - 3
1-237656274-A-T c.1848A>T p.S616= Synonymous 19/105 - 3
1-237656276-T-A c.1850T>A p.L617H Missense 19/105 - 1
1-237656277-C-A c.1851C>A p.L617= Synonymous 19/105 - 1
1-237656277-C-G c.1851C>G p.L617= Synonymous 19/105 - 1
1-237656277-C-T c.1851C>T p.L617= Synonymous 19/105 - 1
1-237656279-G-A c.1853G>A p.C618Y Missense 19/105 - 1
1-237656279-G-T c.1853G>T p.C618F Missense 19/105 - 3
1-237656281-G-C c.1855G>C p.V619L Missense 19/105 - 1
1-237656285-G-T c.1859G>T p.C620F Missense 19/105 - 3
1-237656286-C-T c.1860C>T p.C620= Synonymous 19/105 - 1
1-237656289-C-A c.1863C>A p.H621Q Missense 19/105 - 2
1-237656289-C-G c.1863C>G p.H621Q Missense 19/105 - 1
1-237656289-C-T c.1863C>T p.H621= Synonymous 19/105 - 3
1-237656290-G-A c.1864G>A p.G622R Missense 19/105 - 4
1-237656290-G-C c.1864G>C p.G622R Missense 19/105 - 3
1-237656290-G-T c.1864G>T p.G622W Missense 19/105 - 4
1-237656291-G-T c.1865G>T p.G622V Missense 19/105 - 4
1-237656292-G-A c.1866G>A p.G622= Synonymous 19/105 - 2
1-237656292-G-C c.1866G>C p.G622= Synonymous 19/105 - 2
1-237656292-G-T c.1866G>T p.G622= Synonymous 19/105 - 2
1-237656294-T-C c.1868T>C p.V623A Missense 19/105 - 1
1-237656297-C-T c.1871C>T p.A624V Missense 19/105 - 1
1-237656302-CGT-TGA c.1876_1878delinsTGA p.R626* Nonsense 19/105 - 2
1-237656302-C-T c.1876C>T p.R626C Missense 19/105 - 2
1-237656303-G-A c.1877G>A p.R626H Missense 19/105 - 4
1-237656303-G-T c.1877G>T p.R626L Missense 19/105 - 2
1-237656309-A-G c.1883A>G p.N628S Missense 19/105 - 1
1-237656310-C-G c.1884C>G p.N628K Missense 19/105 - 1
1-237656310-C-T c.1884C>T p.N628= Synonymous 19/105 - 1
1-237656311-C-A c.1885C>A p.Q629K Missense 19/105 - 4
1-237656311-C-T c.1885C>T p.Q629* Nonsense 19/105 - 1
1-237656312-A-G c.1886A>G p.Q629R Missense 19/105 - 1
1-237656314-C-A c.1888C>A p.H630N Missense 19/105 - 1
1-237656314-C-T c.1888C>T p.H630Y Missense 19/105 - 2
1-237656316-T-A c.1890T>A p.H630Q Missense 19/105 - 1
1-237656316-T-G c.1890T>G p.H630Q Missense 19/105 - 1
1-237656317-C-T c.1891C>T p.L631F Missense 19/105 - 1
1-237656318-T-TC c.1893dup p.I632Hfs*3 Frameshift 19/105 - 1
1-237656319-C-A c.1893C>A p.L631= Synonymous 19/105 - 1
1-237656319-C-G c.1893C>G p.L631= Synonymous 19/105 - 1
1-237656319-C-T c.1893C>T p.L631= Synonymous 19/105 - 1
1-237656321-T-A c.1895T>A p.I632N Missense 19/105 - 1
1-237656322-C-A c.1896C>A p.I632= Synonymous 19/105 - 1
1-237656322-C-G c.1896C>G p.I632M Missense 19/105 - 2
1-237656322-C-T c.1896C>T p.I632= Synonymous 19/105 - 1
1-237656323-TG-AC c.1897_1898delinsAC p.C633T Missense 19/105 - 1
1-237656324-G-A c.1898G>A p.C633Y Missense 19/105 - 1
1-237656325-T-A c.1899T>A p.C633* Nonsense 19/105 - 1
1-237656326-G-A c.1900G>A p.D634N Missense 19/105 - 2
1-237656336-T-G c.1910T>G p.L637R Missense 19/105 - 1
1-237656338-C-A c.1912C>A p.P638T Missense 19/105 - 3
1-237656339-C-A c.1913C>A p.P638Q Missense 19/105 - 4
1-237656341-G-A c.1915G>A p.G639R Missense 19/105 - 1
1-237656341-G-C c.1915G>C p.G639R Missense 19/105 - 1
1-237656342-G-T c.1916G>T p.G639V Missense 19/105 - 4
1-237656344-AGA-CAT c.1918_1920delinsCAT p.R640H Missense 19/105 - 1
1-237656344-AGA-TGT c.1918_1920delinsTGT p.R640C Missense 19/105 - 1
1-237656345-G-T c.1919G>T p.R640I Missense 19/105 - 1
1-237656347-G-A c.1921G>A p.D641N Missense 19/105 - 1
1-237656349-C-T c.1923C>T p.D641= Synonymous 19/105 - 1
1-237656353-T-A c.1927T>A p.L643I Missense 19/105 - 1
1-237656353-T-C c.1927T>C p.L643= Synonymous 19/105 - 1
1-237656353-TT-CC c.1927_1928delinsCC p.L643P Missense 19/105 - 1
1-237656355-A-G c.1929A>G p.L643= Synonymous 19/105 - 1
1-237656354-T-G c.1928T>G p.L643* Nonsense 19/105 - 1
1-237656356-T-C c.1930T>C p.L644= Synonymous 19/105 - 2
1-237656358-G-A c.1932G>A p.L644= Synonymous 19/105 - 2
1-237656358-G-C c.1932G>C p.L644F Missense 19/105 - 1
1-237656358-G-T c.1932G>T p.L644F Missense 19/105 - 1
1-237656359-C-T c.1933C>T p.Q645* Nonsense 19/105 - 1
1-237656362-A-G c.1936A>G p.T646A Missense 19/105 - 1
1-237656363-C-T c.1937C>T p.T646I Missense 19/105 - 1
1-237656364-A-C c.1938A>C p.T646= Synonymous 19/105 - 2
1-237656364-A-G c.1938A>G p.T646= Synonymous 19/105 - 2
1-237656364-A-T c.1938A>T p.T646= Synonymous 19/105 - 2
1-237656365-C-A c.1939C>A p.R647S Missense 19/105 - 4
1-237656365-CGT-AAG c.1939_1941delinsAAG p.R647K Missense 19/105 - 1
1-237656365-C-T c.1939C>T p.R647C Missense 19/105 - 5
1-237656366-G-A c.1940G>A p.R647H Missense 19/105 - 2
1-237656366-G-T c.1940G>T p.R647L Missense 19/105 - 3
1-237656366-GT-AA c.1940_1941delinsAA p.R647Q Missense 19/105 - 1
1-237656367-T-C c.1941T>C p.R647= Synonymous 19/105 - 1
1-237656368-C-G c.1942C>G p.L648V Missense 19/105 - 1
1-237656371-G-C c.1945G>C p.V649L Missense 19/105 - 2
1-237656371-G-GATCTTCTAAGTCAT c.1945_1946insATCTTCTAAGTCAT p.V649Dfs*6 Frameshift 19/105 - 1
1-237656371-G-T c.1945G>T p.V649L Missense 19/105 - 3
1-237656376-C-A c.1950C>A p.N650K Missense 19/105 - 7
1-237656376-C-G c.1950C>G p.N650K Missense 19/105 - 5
1-237656377-C-T c.1951C>T p.H651Y Missense 19/105 - 4
1-237656378-A-G c.1952A>G p.H651R Missense 19/105 - 1
1-237656380-G-A c.1954G>A p.V652I Missense 19/105 - 1
1-237656382-C-T c.1956C>T p.V652= Synonymous 19/105 - 1
1-237656383-A-G c.1957A>G p.S653G Missense 19/105 - 1
1-237656384-G-A c.1958G>A p.S653N Missense 19/105 - 2
1-237656386-A-C c.1960A>C p.S654R Missense 19/105 - 1
1-237656386-A-G c.1960A>G p.S654G Missense 19/105 - 2
1-237656387-G-C c.1961G>C p.S654T Missense 19/105 - 1
1-237656387-G-T c.1961G>T p.S654I Missense 19/105 - 1
1-237656714-C-G c.1961+327C>G - IntronicSNV - 19/104 1
1-237656877-C-T c.1961+490C>T - IntronicSNV - 19/104 1
1-237658299-C-A c.1962-1512C>A - IntronicSNV - 19/104 1
1-237658299-C-G c.1962-1512C>G - IntronicSNV - 19/104 1
1-237658299-C-T c.1962-1512C>T - IntronicSNV - 19/104 1
1-237658638-T-C c.1962-1173T>C - IntronicSNV - 19/104 1
1-237659147-A-G c.1962-664A>G - IntronicSNV - 19/104 1
1-237659306-C-T c.1962-505C>T - IntronicSNV - 19/104 1
1-237659722-A-T c.1962-89A>T - IntronicSNV - 19/104 1
1-237659812-A-C c.1963A>C p.M655L Missense 20/105 - 1
1-237659813-T-G c.1964T>G p.M655R Missense 20/105 - 1
1-237659814-G-A c.1965G>A p.M655I Missense 20/105 - 1
1-237659814-G-C c.1965G>C p.M655I Missense 20/105 - 1
1-237659814-G-T c.1965G>T p.M655I Missense 20/105 - 1
1-237659816-G-A c.1967G>A p.R656K Missense 20/105 - 1
1-237659819-C-T c.1970C>T p.P657L Missense 20/105 - 1
1-237659822-A-G c.1973A>G p.N658S Missense 20/105 - 5
1-237659825-T-G c.1976T>G p.I659S Missense 20/105 - 2
1-237659830-C-A c.1981C>A p.L661M Missense 20/105 - 1
1-237659830-CTG-TTT c.1981_1983delinsTTT p.L661F Missense 20/105 - 1
1-237659831-T-G c.1982T>G p.L661R Missense 20/105 - 1
1-237659830-C-T c.1981C>T p.L661= Synonymous 20/105 - 1
1-237659832-G-A c.1983G>A p.L661= Synonymous 20/105 - 1
1-237659832-G-C c.1983G>C p.L661= Synonymous 20/105 - 1
1-237659832-G-T c.1983G>T p.L661= Synonymous 20/105 - 2
1-237659834-G-C c.1985G>C p.G662A Missense 20/105 - 1
1-237659834-G-T c.1985G>T p.G662V Missense 20/105 - 1
1-237659835-C-A c.1986C>A p.G662= Synonymous 20/105 - 1
1-237659835-C-G c.1986C>G p.G662= Synonymous 20/105 - 1
1-237659835-C-T c.1986C>T p.G662= Synonymous 20/105 - 2
1-237659836-G-A c.1987G>A p.V663I Missense 20/105 - 6
1-237659838-C-T c.1989C>T p.V663= Synonymous 20/105 - 2
1-237659841-T-C c.1992T>C p.S664= Synonymous 20/105 - 3
1-237659842-G-T c.1993G>T p.E665* Nonsense 20/105 - 1
1-237659843-A-T c.1994A>T p.E665V Missense 20/105 - 1
1-237659844-A-C c.1995A>C p.E665D Missense 20/105 - 2
1-237659844-A-T c.1995A>T p.E665D Missense 20/105 - 1
1-237659846-G-A c.1997G>A p.G666D Missense 20/105 - 2
1-237659851-G-A c.2002G>A p.A668T Missense 20/105 - 1
1-237659852-C-A c.2003C>A p.A668D Missense 20/105 - 1
1-237659856-G-A c.2007G>A p.Q669= Synonymous 20/105 - 2
1-237659856-G-C c.2007G>C p.Q669H Missense 20/105 - 1
1-237659858-A-G c.2009A>G p.Y670C Missense 20/105 - 1
1-237659862-G-C c.2013G>C p.K671N Missense 20/105 - 3
1-237659862-G-T c.2013G>T p.K671N Missense 20/105 - 4
1-237659863-A-G c.2014A>G p.K672E Missense 20/105 - 1
1-237659869-T-C c.2020T>C p.Y674H Missense 20/105 - 1
1-237659870-A-G c.2021A>G p.Y674C Missense 20/105 - 2
1-237659871-C-T c.2022C>T p.Y674= Synonymous 20/105 - 1
1-237659872-T-A c.2023T>A p.Y675N Missense 20/105 - 4
1-237659873-A-C c.2024A>C p.Y675S Missense 20/105 - 1
1-237659875-G-A c.2026G>A p.E676K Missense 20/105 - 2
1-237659883-G-C c.2034G>C p.M678I Missense 20/105 - 1
1-237659883-G-T c.2034G>T p.M678I Missense 20/105 - 1
1-237659885-T-C c.2036T>C p.V679A Missense 20/105 - 1
1-237659886-G-A c.2037G>A p.V679= Synonymous 20/105 - 1
1-237659886-G-C c.2037G>C p.V679= Synonymous 20/105 - 1
1-237659886-G-T c.2037G>T p.V679= Synonymous 20/105 - 3
1-237659894-C-G c.2045C>G p.T682R Missense 20/105 - 2
1-237659895-A-C c.2046A>C p.T682= Synonymous 20/105 - 1
1-237659895-A-G c.2046A>G p.T682= Synonymous 20/105 - 2
1-237659895-A-T c.2046A>T p.T682= Synonymous 20/105 - 1
1-237659896-G-A c.2047G>A p.E683K Missense 20/105 - 4
1-237659899-C-A c.2050C>A p.P684T Missense 20/105 - 1
1-237659901-C-A c.2052C>A p.P684= Synonymous 20/105 - 1
1-237659906-T-C c.2057T>C p.V686A Missense 20/105 - 1
1-237659912-C-A c.2063C>A p.A688D Missense 20/105 - 1
1-237659912-C-T c.2063C>T p.A688V Missense 20/105 - 1
1-237659916-A-C c.2067A>C p.E689D Missense 20/105 - 1
1-237659916-A-G c.2067A>G p.E689= Synonymous 20/105 - 1
1-237659916-A-T c.2067A>T p.E689D Missense 20/105 - 1
1-237659917-G-A c.2068G>A p.A690T Missense 20/105 - 1
1-237659917-G-T c.2068G>T p.A690S Missense 20/105 - 2
1-237659919-A-C c.2070A>C p.A690= Synonymous 20/105 - 1
1-237659919-A-G c.2070A>G p.A690= Synonymous 20/105 - 1
1-237659919-A-T c.2070A>T p.A690= Synonymous 20/105 - 1
1-237659920-A-C c.2071A>C p.T691P Missense 20/105 - 2
1-237659922-T-C c.2073T>C p.T691= Synonymous 20/105 - 1
1-237659923-C-T c.2074C>T p.H692Y Missense 20/105 - 1
1-237659925-C-T c.2076C>T p.H692= Synonymous 20/105 - 1
1-237659924-AC-A c.2077del p.L693Cfs*49 Frameshift 20/105 - 1
1-237659928-G-T c.2079G>T p.L693= Synonymous 20/105 - 1
1-237659929-C-T c.2080C>T p.R694* Nonsense 20/105 - 4
1-237659930-G-A c.2081G>A p.R694Q Missense 20/105 - 2
1-237659930-G-T c.2081G>T p.R694L Missense 20/105 - 3
1-237659932-G-A c.2083G>A p.V695M Missense 20/105 - 1
1-237659932-G-C c.2083G>C p.V695L Missense 20/105 - 1
1-237659932-G-T c.2083G>T p.V695L Missense 20/105 - 2
1-237659933-T-A c.2084T>A p.V695E Missense 20/105 - 1
1-237659935-G-A c.2086G>A p.G696S Missense 20/105 - 1
1-237659935-G-T c.2086G>T p.G696C Missense 20/105 - 1
1-237659936-G-A c.2087G>A p.G696D Missense 20/105 - 1
1-237659936-G-T c.2087G>T p.G696V Missense 20/105 - 2
1-237659939-G-A c.2090G>A p.W697* Nonsense 20/105 - 1
1-237659940-G-C c.2091G>C p.W697C Missense 20/105 - 1
1-237659941-G-A c.2092G>A p.A698T Missense 20/105 - 2
1-237659942-C-T c.2093C>T p.A698V Missense 20/105 - 1
1-237659944-TC-CT c.2095_2096delinsCT p.S699L Missense 20/105 - 1
1-237659945-C-T c.2096C>T p.S699F Missense 20/105 - 1
1-237659946-C-A c.2097C>A p.S699= Synonymous 20/105 - 4
1-237659946-C-G c.2097C>G p.S699= Synonymous 20/105 - 3
1-237659946-C-T c.2097C>T p.S699= Synonymous 20/105 - 3
1-237659947-A-T c.2098A>T p.T700S Missense 20/105 - 1
1-237659948-C-G c.2099C>G p.T700S Missense 20/105 - 2
1-237659949-T-A c.2100T>A p.T700= Synonymous 20/105 - 1
1-237659949-T-C c.2100T>C p.T700= Synonymous 20/105 - 1
1-237659949-T-G c.2100T>G p.T700= Synonymous 20/105 - 1
1-237659950-G-A c.2101G>A p.E701K Missense 20/105 - 2
1-237659950-G-C c.2101G>C p.E701Q Missense 20/105 - 1
1-237659953-G-A c.2104G>A p.G702R Missense 20/105 - 1
1-237659953-G-T c.2104G>T p.G702* Nonsense 20/105 - 1
1-237659954-G-A c.2105G>A p.G702E Missense 20/105 - 2
1-237659956-T-A c.2107T>A p.Y703N Missense 20/105 - 1
1-237659956-T-C c.2107T>C p.Y703H Missense 20/105 - 1
1-237659956-T-G c.2107T>G p.Y703D Missense 20/105 - 3
1-237659960-C-T c.2111C>T p.S704F Missense 20/105 - 7
1-237659961-T-A c.2112T>A p.S704= Synonymous 20/105 - 1
1-237659962-C-T c.2113C>T p.P705S Missense 20/105 - 2
1-237659963-C-A c.2114C>A p.P705H Missense 20/105 - 1
1-237659965-T-C c.2116T>C p.Y706H Missense 20/105 - 2
1-237659966-A-G c.2117A>G p.Y706C Missense 20/105 - 1
1-237659967-C-A c.2118C>A p.Y706* Nonsense 20/105 - 1
1-237659967-C-G c.2118C>G p.Y706* Nonsense 20/105 - 1
1-237659969-C-A c.2120C>A p.P707H Missense 20/105 - 5
1-237659969-C-G c.2120C>G p.P707R Missense 20/105 - 1
1-237659974-G-C c.2125G>C p.G709R Missense 20/105 - 1
1-237659974-GGG-TGT c.2125_2127delinsTGT p.G709C Missense 20/105 - 1
1-237659975-G-A c.2126G>A p.G709E Missense 20/105 - 1
1-237659975-G-C c.2126G>C p.G709A Missense 20/105 - 2
1-237659976-G-A c.2127G>A p.G709= Synonymous 20/105 - 1
1-237659977-G-C c.2128G>C p.G710R Missense 20/105 - 1
1-237659978-GC-AG c.2129_2130delinsAG p.G710E Missense 20/105 - 1
1-237659979-C-A c.2130C>A p.G710= Synonymous 20/105 - 1
1-237659979-C-G c.2130C>G p.G710= Synonymous 20/105 - 1
1-237659979-C-T c.2130C>T p.G710= Synonymous 20/105 - 1
1-237659980-G-A c.2131G>A p.E711K Missense 20/105 - 14
1-237659982-A-G c.2133A>G p.E711= Synonymous 20/105 - 1
1-237659983-G-C c.2134G>C p.E712Q Missense 20/105 - 2
1-237659985-G-C c.2136G>C p.E712D Missense 20/105 - 1
1-237659985-G-T c.2136G>T p.E712D Missense 20/105 - 1
1-237659987-G-T c.2138G>T p.W713L Missense 20/105 - 1
1-237659988-G-C c.2139G>C p.W713C Missense 20/105 - 1
1-237659988-G-T c.2139G>T p.W713C Missense 20/105 - 1
1-237659986-TG-T c.2141del p.G714Vfs*28 Frameshift 20/105 - 1
1-237659986-T-TG c.2141dup p.G715Wfs*7 Frameshift 20/105 - 2
1-237659990-G-C c.2141G>C p.G714A Missense 20/105 - 1
1-237659990-G-GT c.2142dup p.G715Wfs*7 Frameshift 20/105 - 2
1-237659992-G-A c.2143G>A p.G715R Missense 20/105 - 3
1-237659992-G-C c.2143G>C p.G715R Missense 20/105 - 1
1-237659999-G-A c.2150G>A p.G717D Missense 20/105 - 1
1-237660004-G-A c.2155G>A p.G719R Missense 20/105 - 2
1-237660004-G-C c.2155G>C p.G719R Missense 20/105 - 1
1-237660007-G-A c.2158G>A p.D720N Missense 20/105 - 2
1-237660010-G-C c.2161G>C p.D721H Missense 20/105 - 1
1-237660011-A-T c.2162A>T p.D721V Missense 20/105 - 1
1-237660013-C-G c.2164C>G p.L722V Missense 20/105 - 1
1-237660013-C-T c.2164C>T p.L722F Missense 20/105 - 2
1-237660020-C-T c.2171C>T p.S724F Missense 20/105 - 5
1-237660022-T-C c.2173T>C p.Y725H Missense 20/105 - 1
1-237660025-G-A c.2176G>A p.G726R Missense 20/105 - 3
1-237660025-G-C c.2176G>C p.G726R Missense 20/105 - 2
1-237660025-G-T c.2176G>T p.G726* Nonsense 20/105 - 1
1-237660026-G-A c.2177G>A p.G726E Missense 20/105 - 2
1-237660026-G-T c.2177G>T p.G726V Missense 20/105 - 1
1-237660028-T-C c.2179T>C p.F727L Missense 20/105 - 1
1-237660030-T-A c.2181T>A p.F727L Missense 20/105 - 1
1-237660030-T-G c.2181T>G p.F727L Missense 20/105 - 1
1-237660031-G-C c.2182G>C p.D728H Missense 20/105 - 1
1-237660032-A-T c.2183A>T p.D728V Missense 20/105 - 1
1-237660034-G-C c.2185G>C p.G729R Missense 20/105 - 3
1-237660036-C-T c.2187C>T p.G729= Synonymous 20/105 - 1
1-237660037-C-T c.2188C>T p.L730F Missense 20/105 - 1
1-237660038-T-C c.2189T>C p.L730P Missense 20/105 - 6
1-237660039-T-A c.2190T>A p.L730= Synonymous 20/105 - 1
1-237660039-T-C c.2190T>C p.L730= Synonymous 20/105 - 2
1-237660039-T-G c.2190T>G p.L730= Synonymous 20/105 - 1
1-237660042-T-A c.2193T>A p.H731Q Missense 20/105 - 1
1-237660045-C-A c.2196C>A p.L732= Synonymous 20/105 - 1
1-237660045-C-G c.2196C>G p.L732= Synonymous 20/105 - 2
1-237660045-C-T c.2196C>T p.L732= Synonymous 20/105 - 1
1-237660046-T-TG c.2199dup p.S734Vfs*19 Frameshift 20/105 - 1
1-237660050-C-T c.2201C>T p.S734L Missense 20/105 - 2
1-237660052-G-A c.2203G>A p.G735S Missense 20/105 - 4
1-237660052-G-C c.2203G>C p.G735R Missense 20/105 - 1
1-237660057-G-A c.2203+5G>A - IntronicSNV - 20/104 2
1-237663757-G-A c.2204-254G>A - IntronicSNV - 20/104 2
1-237664004-C-G c.2204-7C>G - IntronicSNV - 20/104 1
1-237664007-A-G c.2204-4A>G - IntronicSNV - 20/104 1
1-237664011-G-C c.2204G>C p.G735A Missense 21/105 - 2
1-237664013-T-A c.2206T>A p.C736S Missense 21/105 - 3
1-237664013-TG-AC c.2206_2207delinsAC p.C736T Missense 21/105 - 1
1-237664014-G-C c.2207G>C p.C736S Missense 21/105 - 1
1-237664015-T-A c.2208T>A p.C736* Nonsense 21/105 - 1
1-237664016-TA-T c.2209del p.I737Lfs*5 Frameshift 21/105 - 1
1-237664018-T-G c.2211T>G p.I737M Missense 21/105 - 1
1-237664019-G-A c.2212G>A p.A738T Missense 21/105 - 1
1-237664020-C-A c.2213C>A p.A738D Missense 21/105 - 1
1-237664020-C-G c.2213C>G p.A738G Missense 21/105 - 1
1-237664021-T-A c.2214T>A p.A738= Synonymous 21/105 - 1
1-237664021-T-C c.2214T>C p.A738= Synonymous 21/105 - 1
1-237664021-T-G c.2214T>G p.A738= Synonymous 21/105 - 1
1-237664022-C-T c.2215C>T p.R739C Missense 21/105 - 7
1-237664023-G-A c.2216G>A p.R739H Missense 21/105 - 8
1-237664025-A-G c.2218A>G p.T740A Missense 21/105 - 1
1-237664026-C-A c.2219C>A p.T740N Missense 21/105 - 1
1-237664028-G-A c.2221G>A p.V741I Missense 21/105 - 1
1-237664028-G-C c.2221G>C p.V741L Missense 21/105 - 1
1-237664030-A-G c.2223A>G p.V741= Synonymous 21/105 - 1
1-237664031-A-G c.2224A>G p.S742G Missense 21/105 - 1
1-237664031-AG-TA c.2224_2225delinsTA p.S742Y Missense 21/105 - 1
1-237664031-AG-TT c.2224_2225delinsTT p.S742F Missense 21/105 - 1
1-237664032-G-GA c.2225_2226insA p.S742Rfs*11 Frameshift 21/105 - 1
1-237664033-C-G c.2226C>G p.S742R Missense 21/105 - 1
1-237664034-TCAC-T c.2230_2232del p.P744del InFrameDeletion 21/105 - 2
1-237664037-C-G c.2230C>G p.P744A Missense 21/105 - 1
1-237664038-C-G c.2231C>G p.P744R Missense 21/105 - 1
1-237664039-A-C c.2232A>C p.P744= Synonymous 21/105 - 2
1-237664039-A-G c.2232A>G p.P744= Synonymous 21/105 - 2
1-237664039-A-T c.2232A>T p.P744= Synonymous 21/105 - 2
1-237664040-A-G c.2233A>G p.N745D Missense 21/105 - 1
1-237664042-C-T c.2235C>T p.N745= Synonymous 21/105 - 2
1-237664043-C-T c.2236C>T p.Q746* Nonsense 21/105 - 1
1-237664045-A-C c.2238A>C p.Q746H Missense 21/105 - 2
1-237664047-A-G c.2240A>G p.H747R Missense 21/105 - 1
1-237664049-C-A c.2242C>A p.L748M Missense 21/105 - 1
1-237664050-T-C c.2243T>C p.L748P Missense 21/105 - 2
1-237664050-T-G c.2243T>G p.L748R Missense 21/105 - 3
1-237664049-C-T c.2242C>T p.L748= Synonymous 21/105 - 1
1-237664051-G-A c.2244G>A p.L748= Synonymous 21/105 - 1
1-237664051-G-C c.2244G>C p.L748= Synonymous 21/105 - 1
1-237664051-G-T c.2244G>T p.L748= Synonymous 21/105 - 1
1-237664052-T-A c.2245T>A p.L749I Missense 21/105 - 3
1-237664052-T-C c.2245T>C p.L749= Synonymous 21/105 - 1
1-237664054-A-G c.2247A>G p.L749= Synonymous 21/105 - 1
1-237664054-A-T c.2247A>T p.L749F Missense 21/105 - 1
1-237664055-AGA-CAT c.2248_2250delinsCAT p.R750H Missense 21/105 - 1
1-237664056-G-C c.2249G>C p.R750T Missense 21/105 - 1
1-237664056-G-T c.2249G>T p.R750I Missense 21/105 - 2
1-237664057-A-C c.2250A>C p.R750S Missense 21/105 - 1
1-237664057-A-T c.2250A>T p.R750S Missense 21/105 - 1
1-237664059-C-T c.2252C>T p.T751I Missense 21/105 - 1
1-237664059-CT-TG c.2252_2253delinsTG p.T751M Missense 21/105 - 1
1-237664061-G-T c.2254G>T p.D752Y Missense 21/105 - 1
1-237664063-T-C c.2256T>C p.D752= Synonymous 21/105 - 1
1-237664064-G-A c.2257G>A p.D753N Missense 21/105 - 7
1-237664064-G-T c.2257G>T p.D753Y Missense 21/105 - 1
1-237664066-T-G c.2259T>G p.D753E Missense 21/105 - 1
1-237664068-T-G c.2261T>G p.V754G Missense 21/105 - 1
1-237664070-A-G c.2263A>G p.I755V Missense 21/105 - 1
1-237664072-C-T c.2265C>T p.I755= Synonymous 21/105 - 1
1-237664073-A-C c.2266A>C p.S756R Missense 21/105 - 1
1-237664073-A-T c.2266A>T p.S756C Missense 21/105 - 1
1-237664074-G-A c.2267G>A p.S756N Missense 21/105 - 6
1-237664074-G-T c.2267G>T p.S756I Missense 21/105 - 1
1-237664075-T-C c.2268T>C p.S756= Synonymous 21/105 - 2
1-237664076-T-G c.2269T>G p.C757G Missense 21/105 - 1
1-237664078-C-A c.2271C>A p.C757* Nonsense 21/105 - 1
1-237664080-G-C c.2273G>C p.C758S Missense 21/105 - 1
1-237664080-G-A c.2273G>A p.C758Y Missense 21/105 - 1
1-237664082-T-A c.2275T>A p.L759I Missense 21/105 - 1
1-237664082-T-C c.2275T>C p.L759= Synonymous 21/105 - 1
1-237664082-TT-CC c.2275_2276delinsCC p.L759P Missense 21/105 - 2
1-237664084-A-G c.2277A>G p.L759= Synonymous 21/105 - 1
1-237664085-G-A c.2278G>A p.D760N Missense 21/105 - 3
1-237664085-G-C c.2278G>C p.D760H Missense 21/105 - 1
1-237664085-G-T c.2278G>T p.D760Y Missense 21/105 - 1
1-237664088-C-A c.2281C>A p.L761M Missense 21/105 - 1
1-237664088-C-T c.2281C>T p.L761= Synonymous 21/105 - 1
1-237664091-A-T c.2284A>T p.S762C Missense 21/105 - 2
1-237664092-G-A c.2285G>A p.S762N Missense 21/105 - 1
1-237664095-C-T c.2288C>T p.A763V Missense 21/105 - 3
1-237664096-C-A c.2289C>A p.A763= Synonymous 21/105 - 3
1-237664096-C-G c.2289C>G p.A763= Synonymous 21/105 - 1
1-237664096-C-T c.2289C>T p.A763= Synonymous 21/105 - 1
1-237664098-C-T c.2291C>T p.P764L Missense 21/105 - 1
1-237664100-AG-CT c.2293_2294inv p.S765L Missense 21/105 - 2
1-237664100-AGC-TGA c.2293_2295delinsTGA p.S765* Nonsense 21/105 - 1
1-237664101-G-A c.2294G>A p.S765N Missense 21/105 - 1
1-237664100-A-C c.2293A>C p.S765R Missense 21/105 - 1
1-237664107-C-G c.2300C>G p.S767W Missense 21/105 - 3
1-237664107-CG-GT c.2300_2301delinsGT p.S767C Missense 21/105 - 1
1-237664107-C-T c.2300C>T p.S767L Missense 21/105 - 8
1-237664108-G-A c.2301G>A p.S767= Synonymous 21/105 - 5
1-237664108-G-C c.2301G>C p.S767= Synonymous 21/105 - 3
1-237664108-G-T c.2301G>T p.S767= Synonymous 21/105 - 8
1-237664109-T-G c.2302T>G p.F768V Missense 21/105 - 1
1-237664111-C-T c.2304C>T p.F768= Synonymous 21/105 - 1
1-237664112-CGA-TGT c.2305_2307delinsTGT p.R769C Missense 21/105 - 1
1-237664112-C-T c.2305C>T p.R769* Nonsense 21/105 - 4
1-237664113-G-A c.2306G>A p.R769Q Missense 21/105 - 4
1-237664115-A-C c.2308A>C p.I770L Missense 21/105 - 1
1-237664117-T-A c.2310T>A p.I770= Synonymous 21/105 - 1
1-237664117-T-C c.2310T>C p.I770= Synonymous 21/105 - 1
1-237664119-A-G c.2312A>G p.N771S Missense 21/105 - 2
1-237664121-G-A c.2314G>A p.G772R Missense 21/105 - 1
1-237664121-GGA-AGC c.2314_2316delinsAGC p.G772S Missense 21/105 - 1
1-237664122-G-A c.2315G>A p.G772E Missense 21/105 - 5
1-237664127-C-A c.2320C>A p.P774T Missense 21/105 - 1
1-237664128-C-G c.2321C>G p.P774R Missense 21/105 - 1
1-237664130-G-A c.2323G>A p.V775I Missense 21/105 - 1
1-237664135-A-C c.2328A>C p.Q776H Missense 21/105 - 1
1-237664135-A-T c.2328A>T p.Q776H Missense 21/105 - 1
1-237664136-G-A c.2329G>A p.G777R Missense 21/105 - 3
1-237664136-G-C c.2329G>C p.G777R Missense 21/105 - 1
1-237664137-G-C c.2330G>C p.G777A Missense 21/105 - 1
1-237664145-G-A c.2338G>A p.E780K Missense 21/105 - 2
1-237664147-G-A c.2340G>A p.E780= Synonymous 21/105 - 2
1-237664153-C-T c.2346C>T p.F782= Synonymous 21/105 - 1
1-237664155-A-G c.2348A>G p.N783S Missense 21/105 - 1
1-237664157-A-G c.2350A>G p.I784V Missense 21/105 - 1
1-237664157-A-T c.2350A>T p.I784F Missense 21/105 - 1
1-237664159-C-A c.2352C>A p.I784= Synonymous 21/105 - 3
1-237664159-C-G c.2352C>G p.I784M Missense 21/105 - 2
1-237664159-C-T c.2352C>T p.I784= Synonymous 21/105 - 5
1-237664160-G-A c.2353G>A p.D785N Missense 21/105 - 3
1-237664160-G-C c.2353G>C p.D785H Missense 21/105 - 1
1-237664160-G-T c.2353G>T p.D785Y Missense 21/105 - 2
1-237664163-G-A c.2356G>A p.G786S Missense 21/105 - 1
1-237664163-G-C c.2356G>C p.G786R Missense 21/105 - 1
1-237664164-G-C c.2357G>C p.G786A Missense 21/105 - 1
1-237664164-G-T c.2357G>T p.G786V Missense 21/105 - 1
1-237664166-C-T c.2359C>T p.L787F Missense 21/105 - 3
1-237664175-C-G c.2368C>G p.P790A Missense 21/105 - 1
1-237664175-C-T c.2368C>T p.P790S Missense 21/105 - 3
1-237664177-A-C c.2370A>C p.P790= Synonymous 21/105 - 1
1-237664177-A-G c.2370A>G p.P790= Synonymous 21/105 - 2
1-237664177-A-T c.2370A>T p.P790= Synonymous 21/105 - 1
1-237664180-C-A c.2373C>A p.V791= Synonymous 21/105 - 3
1-237664180-C-G c.2373C>G p.V791= Synonymous 21/105 - 2
1-237664180-C-T c.2373C>T p.V791= Synonymous 21/105 - 3
1-237664181-G-A c.2374G>A p.V792I Missense 21/105 - 3
1-237664183-T-A c.2376T>A p.V792= Synonymous 21/105 - 1
1-237664186-T-C c.2379T>C p.S793= Synonymous 21/105 - 1
1-237664187-T-C c.2380T>C p.F794L Missense 21/105 - 2
1-237664189-C-A c.2382C>A p.F794L Missense 21/105 - 3
1-237664189-C-G c.2382C>G p.F794L Missense 21/105 - 5
1-237664188-T-G c.2381T>G p.F794C Missense 21/105 - 1
1-237664189-C-T c.2382C>T p.F794= Synonymous 21/105 - 1
1-237664190-T-A c.2383T>A p.S795T Missense 21/105 - 1
1-237664190-TC-CG c.2383_2384delinsCG p.S795R Missense 21/105 - 1
1-237664191-C-T c.2384C>T p.S795F Missense 21/105 - 1
1-237664193-G-T c.2386G>T p.A796S Missense 21/105 - 1
1-237664195-A-C c.2388A>C p.A796= Synonymous 21/105 - 3
1-237664195-A-G c.2388A>G p.A796= Synonymous 21/105 - 3
1-237664195-A-T c.2388A>T p.A796= Synonymous 21/105 - 4
1-237664196-G-A c.2389G>A p.G797R Missense 21/105 - 1
1-237664197-G-A c.2390G>A p.G797E Missense 21/105 - 1
1-237664198-A-G c.2391A>G p.G797= Synonymous 21/105 - 1
1-237664199-A-G c.2392A>G p.I798V Missense 21/105 - 1
1-237664201-A-G c.2394A>G p.I798M Missense 21/105 - 1
1-237664202-A-C c.2395A>C p.K799Q Missense 21/105 - 1
1-237664211-T-A c.2396+8T>A - IntronicSNV - 21/104 1
1-237664255-C-A c.2396+52C>A - IntronicSNV - 21/104 1
1-237665139-C-G c.2396+936C>G - IntronicSNV - 21/104 1
1-237665859-T-C c.2397-730T>C - IntronicSNV - 21/104 1
1-237666549-C-A c.2397-40C>A - IntronicSNV - 21/104 1
1-237666549-C-G c.2397-40C>G - IntronicSNV - 21/104 1
1-237666583-C-T c.2397-6C>T - IntronicSNV - 21/104 1
1-237666591-T-C c.2399T>C p.V800A Missense 22/105 - 1
1-237666593-C-A c.2401C>A p.R801S Missense 22/105 - 1
1-237666593-C-G c.2401C>G p.R801G Missense 22/105 - 1
1-237666593-C-T c.2401C>T p.R801C Missense 22/105 - 3
1-237666594-G-A c.2402G>A p.R801H Missense 22/105 - 1
1-237666594-G-T c.2402G>T p.R801L Missense 22/105 - 4
1-237666595-C-A c.2403C>A p.R801= Synonymous 22/105 - 1
1-237666595-C-G c.2403C>G p.R801= Synonymous 22/105 - 1
1-237666595-C-T c.2403C>T p.R801= Synonymous 22/105 - 1
1-237666598-T-A c.2406T>A p.F802L Missense 22/105 - 1
1-237666601-G-A c.2409G>A p.L803= Synonymous 22/105 - 2
1-237666601-G-T c.2409G>T p.L803= Synonymous 22/105 - 1
1-237666602-C-T c.2410C>T p.L804F Missense 22/105 - 5
1-237666603-T-G c.2411T>G p.L804R Missense 22/105 - 1
1-237666605-G-A c.2413G>A p.G805R Missense 22/105 - 2
1-237666605-G-C c.2413G>C p.G805R Missense 22/105 - 2
1-237666606-G-A c.2414G>A p.G805E Missense 22/105 - 1
1-237666611-C-A c.2419C>A p.R807= Synonymous 22/105 - 1
1-237666611-CGA-TGT c.2419_2421delinsTGT p.R807C Missense 22/105 - 1
1-237666611-C-T c.2419C>T p.R807* Nonsense 22/105 - 5
1-237666613-A-C c.2421A>C p.R807= Synonymous 22/105 - 1
1-237666613-A-G c.2421A>G p.R807= Synonymous 22/105 - 2
1-237666613-A-T c.2421A>T p.R807= Synonymous 22/105 - 1
1-237666612-G-A c.2420G>A p.R807Q Missense 22/105 - 1
1-237666612-G-C c.2420G>C p.R807P Missense 22/105 - 1
1-237666612-G-T c.2420G>T p.R807L Missense 22/105 - 1
1-237666614-C-A c.2422C>A p.H808N Missense 22/105 - 2
1-237666614-C-T c.2422C>T p.H808Y Missense 22/105 - 1
1-237666616-T-C c.2424T>C p.H808= Synonymous 22/105 - 1
1-237666617-G-A c.2425G>A p.G809R Missense 22/105 - 6
1-237666617-G-C c.2425G>C p.G809R Missense 22/105 - 1
1-237666620-G-A c.2428G>A p.E810K Missense 22/105 - 1
1-237666620-G-C c.2428G>C p.E810Q Missense 22/105 - 1
1-237666620-G-T c.2428G>T p.E810* Nonsense 22/105 - 1
1-237666623-T-G c.2431T>G p.F811V Missense 22/105 - 1
1-237666627-A-C c.2435A>C p.K812T Missense 22/105 - 1
1-237666628-A-C c.2436A>C p.K812N Missense 22/105 - 2
1-237666628-A-T c.2436A>T p.K812N Missense 22/105 - 2
1-237666629-T-G c.2437T>G p.F813V Missense 22/105 - 1
1-237666631-T-C c.2439T>C p.F813= Synonymous 22/105 - 1
1-237666632-C-A c.2440C>A p.L814I Missense 22/105 - 1
1-237666632-C-T c.2440C>T p.L814F Missense 22/105 - 1
1-237666634-T-A c.2442T>A p.L814= Synonymous 22/105 - 4
1-237666634-T-C c.2442T>C p.L814= Synonymous 22/105 - 4
1-237666634-T-G c.2442T>G p.L814= Synonymous 22/105 - 4
1-237666638-C-T c.2446C>T p.P816S Missense 22/105 - 2
1-237666639-C-T c.2447C>T p.P816L Missense 22/105 - 1
1-237666641-C-G c.2449C>G p.P817A Missense 22/105 - 1
1-237666642-C-A c.2450C>A p.P817H Missense 22/105 - 4
1-237666642-C-T c.2450C>T p.P817L Missense 22/105 - 1
1-237666642-CT-AA c.2450_2451delinsAA p.P817Q Missense 22/105 - 1
1-237666645-G-C c.2453G>C p.G818A Missense 22/105 - 1
1-237666647-T-C c.2455T>C p.Y819H Missense 22/105 - 2
1-237666648-A-G c.2456A>G p.Y819C Missense 22/105 - 2
1-237666650-G-A c.2458G>A p.A820T Missense 22/105 - 1
1-237666650-G-T c.2458G>T p.A820S Missense 22/105 - 1
1-237666653-C-A c.2461C>A p.P821T Missense 22/105 - 1
1-237666654-C-T c.2462C>T p.P821L Missense 22/105 - 1
1-237666656-T-G c.2464T>G p.C822G Missense 22/105 - 1
1-237666657-G-A c.2465G>A p.C822Y Missense 22/105 - 1
1-237666657-G-T c.2465G>T p.C822F Missense 22/105 - 1
1-237666660-A-G c.2468A>G p.Y823C Missense 22/105 - 1
1-237666662-G-T c.2470G>T p.E824* Nonsense 22/105 - 1
1-237666663-A-G c.2471A>G p.E824G Missense 22/105 - 1
1-237666665-G-A c.2473G>A p.A825T Missense 22/105 - 1
1-237666668-G-A c.2476G>A p.V826I Missense 22/105 - 1
1-237666668-G-T c.2476G>T p.V826F Missense 22/105 - 1
1-237666672-T-C c.2480T>C p.L827P Missense 22/105 - 4
1-237666671-C-T c.2479C>T p.L827= Synonymous 22/105 - 1
1-237666673-G-A c.2481G>A p.L827= Synonymous 22/105 - 1
1-237666673-G-C c.2481G>C p.L827= Synonymous 22/105 - 1
1-237666673-G-T c.2481G>T p.L827= Synonymous 22/105 - 1
1-237666674-C-A c.2482C>A p.P828T Missense 22/105 - 2
1-237666674-C-T c.2482C>T p.P828S Missense 22/105 - 2
1-237666675-C-A c.2483C>A p.P828Q Missense 22/105 - 1
1-237666675-C-T c.2483C>T p.P828L Missense 22/105 - 1
1-237666676-A-C c.2484A>C p.P828= Synonymous 22/105 - 1
1-237666676-A-G c.2484A>G p.P828= Synonymous 22/105 - 1
1-237666676-A-T c.2484A>T p.P828= Synonymous 22/105 - 1
1-237666678-A-C c.2486A>C p.K829T Missense 22/105 - 1
1-237666675-CA-C c.2487del p.E830Kfs*3 Frameshift 22/105 - 2
1-237666680-G-C c.2488G>C p.E830Q Missense 22/105 - 1
1-237666680-G-T c.2488G>T p.E830* Nonsense 22/105 - 1
1-237666683-A-G c.2491A>G p.K831E Missense 22/105 - 1
1-237666685-G-C c.2493G>C p.K831N Missense 22/105 - 1
1-237666685-G-T c.2493G>T p.K831N Missense 22/105 - 1
1-237666692-G-T c.2500G>T p.V834L Missense 22/105 - 1
1-237666694-G-A c.2502G>A p.V834= Synonymous 22/105 - 3
1-237666694-G-C c.2502G>C p.V834= Synonymous 22/105 - 1
1-237666694-G-T c.2502G>T p.V834= Synonymous 22/105 - 1
1-237666695-G-A c.2503G>A p.E835K Missense 22/105 - 2
1-237666696-A-C c.2504A>C p.E835A Missense 22/105 - 1
1-237666696-A-G c.2504A>G p.E835G Missense 22/105 - 1
1-237666698-C-A c.2506C>A p.H836N Missense 22/105 - 1
1-237666698-C-T c.2506C>T p.H836Y Missense 22/105 - 2
1-237666699-A-C c.2507A>C p.H836P Missense 22/105 - 1
1-237666699-A-G c.2507A>G p.H836R Missense 22/105 - 1
1-237666702-G-A c.2510G>A p.S837N Missense 22/105 - 1
1-237666702-G-T c.2510G>T p.S837I Missense 22/105 - 1
1-237666703-C-T c.2511C>T p.S837= Synonymous 22/105 - 1
1-237666704-C-G c.2512C>G p.R838G Missense 22/105 - 3
1-237666704-C-T c.2512C>T p.R838* Nonsense 22/105 - 1
1-237666705-G-A c.2513G>A p.R838Q Missense 22/105 - 7
1-237666707-G-A c.2515G>A p.E839K Missense 22/105 - 5
1-237666709-G-C c.2517G>C p.E839D Missense 22/105 - 2
1-237666709-G-T c.2517G>T p.E839D Missense 22/105 - 3
1-237666711-A-G c.2519A>G p.Y840C Missense 22/105 - 1
1-237666713-A-C c.2521A>C p.K841Q Missense 22/105 - 1
1-237666713-A-G c.2521A>G p.K841E Missense 22/105 - 1
1-237666713-A-T c.2521A>T p.K841* Nonsense 22/105 - 1
1-237666716-C-A c.2524C>A p.Q842K Missense 22/105 - 1
1-237666716-C-T c.2524C>T p.Q842* Nonsense 22/105 - 1
1-237666717-A-C c.2525A>C p.Q842P Missense 22/105 - 1
1-237666719-G-A c.2527G>A p.E843K Missense 22/105 - 1
1-237666722-A-G c.2530A>G p.R844G Missense 22/105 - 1
1-237666722-AGA-CAT c.2530_2532delinsCAT p.R844H Missense 22/105 - 1
1-237666722-AGA-TGG c.2530_2532delinsTGG p.R844W Missense 22/105 - 1
1-237666723-G-A c.2531G>A p.R844K Missense 22/105 - 1
1-237666723-G-C c.2531G>C p.R844T Missense 22/105 - 2
1-237666723-G-T c.2531G>T p.R844I Missense 22/105 - 3
1-237666722-A-C c.2530A>C p.R844= Synonymous 22/105 - 1
1-237666724-A-C c.2532A>C p.R844S Missense 22/105 - 1
1-237666724-A-G c.2532A>G p.R844= Synonymous 22/105 - 1
1-237666724-A-T c.2532A>T p.R844S Missense 22/105 - 1
1-237666725-A-T c.2533A>T p.T845S Missense 22/105 - 4
1-237666726-C-G c.2534C>G p.T845S Missense 22/105 - 4
1-237666729-A-G c.2537A>G p.Y846C Missense 22/105 - 3
1-237666731-A-C c.2539A>C p.T847P Missense 22/105 - 2
1-237666734-C-A c.2542C>A p.R848S Missense 22/105 - 1
1-237666734-CGC-ATG c.2542_2544delinsATG p.R848M Missense 22/105 - 1
1-237666734-C-T c.2542C>T p.R848C Missense 22/105 - 10
1-237666735-G-A c.2543G>A p.R848H Missense 22/105 - 2
1-237666735-G-T c.2543G>T p.R848L Missense 22/105 - 1
1-237666736-C-A c.2544C>A p.R848= Synonymous 22/105 - 5
1-237666736-C-G c.2544C>G p.R848= Synonymous 22/105 - 5
1-237666736-C-T c.2544C>T p.R848= Synonymous 22/105 - 7
1-237666737-G-A c.2545G>A p.D849N Missense 22/105 - 3
1-237666739-C-G c.2547C>G p.D849E Missense 22/105 - 1
1-237666739-C-T c.2547C>T p.D849= Synonymous 22/105 - 1
1-237666740-C-A c.2548C>A p.L850M Missense 22/105 - 1
1-237666741-T-C c.2549T>C p.L850P Missense 22/105 - 1
1-237666740-C-T c.2548C>T p.L850= Synonymous 22/105 - 2
1-237666742-G-A c.2550G>A p.L850= Synonymous 22/105 - 2
1-237666742-G-C c.2550G>C p.L850= Synonymous 22/105 - 2
1-237666742-G-T c.2550G>T p.L850= Synonymous 22/105 - 3
1-237666746-G-A c.2554G>A p.G852S Missense 22/105 - 1
1-237666746-G-T c.2554G>T p.G852C Missense 22/105 - 1
1-237666750-C-G c.2558C>G p.P853R Missense 22/105 - 2
1-237666751-C-A c.2559C>A p.P853= Synonymous 22/105 - 1
1-237666751-C-G c.2559C>G p.P853= Synonymous 22/105 - 1
1-237666751-C-T c.2559C>T p.P853= Synonymous 22/105 - 1
1-237666752-A-G c.2560A>G p.T854A Missense 22/105 - 1
1-237666752-A-T c.2560A>T p.T854S Missense 22/105 - 1
1-237666752-CA-C c.2560del p.T854Qfs*4 Frameshift 22/105 - 1
1-237666753-C-A c.2561C>A p.T854K Missense 22/105 - 2
1-237666753-C-T c.2561C>T p.T854I Missense 22/105 - 1
1-237666754-A-C c.2562A>C p.T854= Synonymous 22/105 - 1
1-237666754-A-G c.2562A>G p.T854= Synonymous 22/105 - 3
1-237666754-A-T c.2562A>T p.T854= Synonymous 22/105 - 1
1-237666757-T-A c.2565T>A p.V855= Synonymous 22/105 - 1
1-237666757-T-C c.2565T>C p.V855= Synonymous 22/105 - 1
1-237666757-T-G c.2565T>G p.V855= Synonymous 22/105 - 1
1-237666759-C-T c.2567C>T p.S856F Missense 22/105 - 3
1-237666760-C-A c.2568C>A p.S856= Synonymous 22/105 - 2
1-237666760-C-G c.2568C>G p.S856= Synonymous 22/105 - 1
1-237666760-C-T c.2568C>T p.S856= Synonymous 22/105 - 6
1-237666761-C-G c.2569C>G p.L857V Missense 22/105 - 3
1-237666762-T-C c.2570T>C p.L857P Missense 22/105 - 1
1-237666763-G-T c.2571G>T p.L857= Synonymous 22/105 - 1
1-237666765-C-A c.2573C>A p.T858K Missense 22/105 - 1
1-237666765-C-T c.2573C>T p.T858M Missense 22/105 - 14
1-237666766-G-A c.2574G>A p.T858= Synonymous 22/105 - 2
1-237666766-G-C c.2574G>C p.T858= Synonymous 22/105 - 1
1-237666766-G-T c.2574G>T p.T858= Synonymous 22/105 - 1
1-237666767-C-G c.2575C>G p.Q859E Missense 22/105 - 2
1-237666771-C-T c.2579C>T p.A860V Missense 22/105 - 1
1-237666774-C-T c.2582C>T p.A861V Missense 22/105 - 5
1-237666780-C-A c.2588C>A p.T863K Missense 22/105 - 2
1-237666781-A-C c.2589A>C p.T863= Synonymous 22/105 - 1
1-237666781-A-G c.2589A>G p.T863= Synonymous 22/105 - 1
1-237666781-A-T c.2589A>T p.T863= Synonymous 22/105 - 1
1-237666782-C-T c.2590C>T p.P864S Missense 22/105 - 1
1-237666788-C-T c.2596C>T p.P866S Missense 22/105 - 2
1-237666791-G-C c.2599G>C p.V867L Missense 22/105 - 1
1-237666794-G-A c.2602G>A p.D868N Missense 22/105 - 1
1-237666795-A-C c.2603A>C p.D868A Missense 22/105 - 1
1-237666795-A-G c.2603A>G p.D868G Missense 22/105 - 1
1-237666797-A-G c.2605A>G p.T