DMD

DMD dystrophin

Annotation transcript: NM_004006.3

15904 unique variant annotations were identified in 2245 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-31138237-C-A c.*1799G>T - 3-UTRSNV 79/79 - 1
X-31138589-T-C c.*1447A>G - 3-UTRSNV 79/79 - 3
X-31138983-T-TATCAATC c.*1046_*1052dup - 3-UTRInsertion 79/79 - 1
X-31139555-G-A c.*481C>T - 3-UTRSNV 79/79 - 1
X-31139561-G-GTA c.*474_*475insTA - 3-UTRInsertion 79/79 - 1
X-31139958-C-G c.*78G>C - 3-UTRSNV 79/79 - 1
X-31139958-C-T c.*78G>A - 3-UTRSNV 79/79 - 1
X-31139970-C-G c.*66G>C - 3-UTRSNV 79/79 - 1
X-31139985-C-T c.*51G>A - 3-UTRSNV 79/79 - 1
X-31139997-T-A c.*39A>T - 3-UTRSNV 79/79 - 1
X-31139998-C-T c.*38G>A - 3-UTRSNV 79/79 - 1
X-31140019-C-T c.*17G>A - 3-UTRSNV 79/79 - 1
X-31140021-T-C c.*15A>G - 3-UTRSNV 79/79 - 1
X-31140027-A-G c.*9T>C - 3-UTRSNV 79/79 - 1
X-31140033-T-C c.*3A>G - 3-UTRSNV 79/79 - 1
X-31140039-C-A c.11055G>T p.M3685I Missense 79/79 - 1
X-31140040-A-G c.11054T>C p.M3685T Missense 79/79 - 1
X-31140041-T-G c.11053A>C p.M3685L Missense 79/79 - 1
X-31140042-T-C c.11052A>G p.T3684= Synonymous 79/79 - 1
X-31140043-G-GTTGTGTCCTCTTGAACTAGGGAAGGAGTTGTTGAGTTGCTCCATCACCTCCTCTAACCCTGTGC c.11050_11051insGCACAGGGTTAGAGGAGGTGATGGAGCAACTCAACAACTCCTTCCCTAGTTCAAGAGGACACAA p.T3684Sfs*53 Frameshift 79/79 - 1
X-31140047-C-G c.11047G>C p.D3683H Missense 79/79 - 1
X-31140047-C-T c.11047G>A p.D3683N Missense 79/79 - 2
X-31140040-A-ATTGTGTCCTCTTGAACTAGGGAAGGAGTTGTTGAGTTGCTCCATCACCTCCTCTAACCCTGTGC c.11053_11054insGCACAGGGTTAGAGGAGGTGATGGAGCAACTCAACAACTCCTTCCCTAGTTCAAGAGGACACAA - Frameshift - 78/78 1
X-31143956-G-A c.11046+803C>T - IntronicSNV - 78/78 1
X-31144640-T-C c.11046+119A>G - IntronicSNV - 78/78 1
X-31144752-C-A c.11046+7G>T - IntronicSNV - 78/78 1
X-31144760-T-C c.11045A>G p.E3682G Missense 78/79 - 2
X-31144762-T-TCTTGTGTCCTCTTGAACTAGGGAAGGAGTTGTTGAGTTGCTCCATCACCTCCTCTAACCCTGTG c.11042_11043insCACAGGGTTAGAGGAGGTGATGGAGCAACTCAACAACTCCTTCCCTAGTTCAAGAGGACACAAG p.R3681Sfs*56 Frameshift 78/79 - 1
X-31144764-T-A c.11041A>T p.R3681* Nonsense 78/79 - 2
X-31144766-A-C c.11039T>G p.M3680R Missense 78/79 - 1
X-31144766-A-ATTGTGTCCTCTTGAACTAGGGAAGGAGTTGTTGAGTTGCTCCATCACCTCCTCTAACCCTGTGC c.11038_11039insGCACAGGGTTAGAGGAGGTGATGGAGCAACTCAACAACTCCTTCCCTAGTTCAAGAGGACACAA p.M3680Sfs*57 Frameshift 78/79 - 1
X-31144771-C-A c.11034G>T p.K3678N Missense 78/79 - 2
X-31144773-T-C c.11032A>G p.K3678E Missense 78/79 - 1
X-31144775-C-T c.11030G>A p.G3677E Missense 78/79 - 1
X-31144778-G-A c.11027C>T p.P3676L Missense 78/79 - 3
X-31144781-G-A c.11024C>T p.T3675I Missense 78/79 - 1
X-31144783-A-C c.11022T>G p.N3674K Missense 78/79 - 2
X-31144783-A-T c.11022T>A p.N3674K Missense 78/79 - 2
X-31144787-C-T c.11018G>A p.R3673K Missense 78/79 - 1
X-31144788-T-A c.11017A>T p.R3673* Nonsense 78/79 - 1
X-31152218-C-A c.11014+1G>T - IntronicSNV - 77/78 2
X-31152220-T-C c.11013A>G p.R3671= Synonymous 77/79 - 1
X-31152222-T-G c.11011A>C p.R3671= Synonymous 77/79 - 1
X-31152229-A-T c.11004T>A p.P3668= Synonymous 77/79 - 1
X-31152230-G-A c.11003C>T p.P3668L Missense 77/79 - 1
X-31152232-G-C c.11001C>G p.F3667L Missense 77/79 - 6
X-31152232-G-T c.11001C>A p.F3667L Missense 77/79 - 9
X-31152234-A-G c.10999T>C p.F3667L Missense 77/79 - 6
X-31152236-G-A c.10997C>T p.S3666F Missense 77/79 - 5
X-31152236-G-C c.10997C>G p.S3666C Missense 77/79 - 4
X-31152238-G-A c.10995C>T p.N3665= Synonymous 77/79 - 1
X-31152241-G-A c.10992C>T p.N3664= Synonymous 77/79 - 1
X-31152241-G-T c.10992C>A p.N3664K Missense 77/79 - 1
X-31152242-T-C c.10991A>G p.N3664S Missense 77/79 - 1
X-31152250-C-T c.10983G>A p.E3661= Synonymous 77/79 - 3
X-31152252-C-A c.10981G>T p.E3661* Nonsense 77/79 - 1
X-31152253-C-T c.10980G>A p.M3660I Missense 77/79 - 2
X-31152254-A-C c.10979T>G p.M3660R Missense 77/79 - 1
X-31152256-C-T c.10977G>A p.V3659= Synonymous 77/79 - 1
X-31152258-C-T c.10975G>A p.V3659M Missense 77/79 - 1
X-31152261-C-G c.10972G>C p.E3658Q Missense 77/79 - 1
X-31152262-C-A c.10971G>T p.E3657D Missense 77/79 - 1
X-31152262-C-G c.10971G>C p.E3657D Missense 77/79 - 1
X-31152262-C-T c.10971G>A p.E3657= Synonymous 77/79 - 2
X-31152264-C-T c.10969G>A p.E3657K Missense 77/79 - 1
X-31152265-T-C c.10968A>G p.L3656= Synonymous 77/79 - 1
X-31152268-C-T c.10965G>A p.G3655= Synonymous 77/79 - 1
X-31152269-C-T c.10964G>A p.G3655E Missense 77/79 - 1
X-31152270-C-A c.10963G>T p.G3655W Missense 77/79 - 1
X-31152272-G-T c.10961C>A p.T3654K Missense 77/79 - 1
X-31152273-T-G c.10960A>C p.T3654P Missense 77/79 - 1
X-31152275-C-T c.10958G>A p.S3653N Missense 77/79 - 1
X-31152278-G-A c.10955C>T p.T3652I Missense 77/79 - 1
X-31152278-G-C c.10955C>G p.T3652R Missense 77/79 - 1
X-31152280-G-A c.10953C>T p.D3651= Synonymous 77/79 - 1
X-31152282-C-G c.10951G>C p.D3651H Missense 77/79 - 2
X-31152282-C-T c.10951G>A p.D3651N Missense 77/79 - 2
X-31152285-G-C c.10948C>G p.Q3650E Missense 77/79 - 2
X-31152285-G-T c.10948C>A p.Q3650K Missense 77/79 - 1
X-31152287-G-A c.10946C>T p.P3649L Missense 77/79 - 4
X-31152288-G-A c.10945C>T p.P3649S Missense 77/79 - 1
X-31152293-C-T c.10940G>A p.S3647N Missense 77/79 - 2
X-31152294-T-C c.10939A>G p.S3647G Missense 77/79 - 2
X-31152295-G-A c.10938C>T p.L3646= Synonymous 77/79 - 1
X-31152297-G-C c.10936C>G p.L3646V Missense 77/79 - 1
X-31152307-C-T c.10926G>A p.E3642= Synonymous 77/79 - 2
X-31152309-C-A c.10924G>T p.E3642* Nonsense 77/79 - 1
X-31152310-A-G c.10923T>C p.G3641= Synonymous 77/79 - 1
X-31152311-C-A c.10922G>T p.G3641V Missense 77/79 - 1
X-31152354-G-T c.10922-43C>A - IntronicSNV - 76/78 1
X-31160436-GA-G c.10921+3971del - IntronicDeletion - 76/78 1
X-31164297-G-A c.10921+111C>T - IntronicSNV - 76/78 1
X-31164311-A-C c.10921+97T>G - IntronicSNV - 76/78 1
X-31164403-C-T c.10921+5G>A - IntronicSNV - 76/78 1
X-31164408-C-A c.10921G>T p.G3641C Missense 76/79 - 2
X-31164409-C-A c.10920G>T p.M3640I Missense 76/79 - 1
X-31164412-TGG-T c.10916_10917del p.S3639Yfs*3 Frameshift 76/79 - 1
X-31164416-T-G c.10913A>C p.D3638A Missense 76/79 - 3
X-31164418-C-T c.10911G>A p.S3637= Synonymous 76/79 - 1
X-31164419-G-A c.10910C>T p.S3637L Missense 76/79 - 1
X-31164419-G-T c.10910C>A p.S3637* Nonsense 76/79 - 1
X-31164421-A-C c.10908T>G p.T3636= Synonymous 76/79 - 2
X-31164421-A-G c.10908T>C p.T3636= Synonymous 76/79 - 2
X-31164421-A-T c.10908T>A p.T3636= Synonymous 76/79 - 2
X-31164431-C-T c.10898G>A p.G3633D Missense 76/79 - 2
X-31164440-C-T c.10889G>A p.R3630Q Missense 76/79 - 1
X-31164440-TC-T c.10889del p.R3630Qfs*27 Frameshift 76/79 - 1
X-31164441-G-A c.10888C>T p.R3630* Nonsense 76/79 - 4
X-31164440-CG-C c.10888del p.R3630Efs*27 Frameshift 76/79 - 1
X-31164450-T-C c.10879A>G p.M3627V Missense 76/79 - 5
X-31164451-A-T c.10878T>A p.P3626= Synonymous 76/79 - 1
X-31164455-T-A c.10874A>T p.Q3625L Missense 76/79 - 1
X-31164456-G-A c.10873C>T p.Q3625* Nonsense 76/79 - 1
X-31164459-T-C c.10870A>G p.S3624G Missense 76/79 - 2
X-31164461-C-T c.10868G>A p.S3623N Missense 76/79 - 4
X-31164463-G-T c.10866C>A p.D3622E Missense 76/79 - 1
X-31164466-G-A c.10863C>T p.S3621= Synonymous 76/79 - 1
X-31164466-G-C c.10863C>G p.S3621= Synonymous 76/79 - 1
X-31164475-T-C c.10854A>G p.L3618= Synonymous 76/79 - 1
X-31164479-G-T c.10850C>A p.S3617Y Missense 76/79 - 3
X-31164481-G-C c.10848C>G p.T3616= Synonymous 76/79 - 1
X-31164483-T-C c.10846A>G p.T3616A Missense 76/79 - 3
X-31164483-T-G c.10846A>C p.T3616P Missense 76/79 - 1
X-31164485-G-A c.10844C>T p.S3615F Missense 76/79 - 1
X-31164483-TAGA-T c.10843_10845del p.S3615del InFrameDeletion 76/79 - 2
X-31164488-GGA-G c.10839_10840del p.P3614Ffs*28 Frameshift 76/79 - 1
X-31164493-G-A c.10836C>T p.S3612= Synonymous 76/79 - 3
X-31164493-G-C c.10836C>G p.S3612= Synonymous 76/79 - 2
X-31164493-G-T c.10836C>A p.S3612= Synonymous 76/79 - 1
X-31164499-C-T c.10830G>A p.T3610= Synonymous 76/79 - 1
X-31164500-G-A c.10829C>T p.T3610M Missense 76/79 - 2
X-31164503-G-A c.10826C>T p.T3609I Missense 76/79 - 2
X-31164511-C-T c.10818G>A p.V3606= Synonymous 76/79 - 1
X-31164514-T-G c.10815A>C p.K3605N Missense 76/79 - 1
X-31164516-T-A c.10813A>T p.K3605* Nonsense 76/79 - 1
X-31164520-C-G c.10809G>C p.E3603D Missense 76/79 - 1
X-31164521-T-C c.10808A>G p.E3603G Missense 76/79 - 1
X-31164522-C-A c.10807G>T p.E3603* Nonsense 76/79 - 1
X-31164527-T-A c.10802A>T p.Q3601L Missense 76/79 - 1
X-31164528-G-A c.10801C>T p.Q3601* Nonsense 76/79 - 3
X-31164631-C-G c.10798-100G>C - IntronicSNV - 75/78 2
X-31164631-C-T c.10798-100G>A - IntronicSNV - 75/78 2
X-31164641-T-G c.10798-110A>C - IntronicSNV - 75/78 1
X-31165046-A-G c.10797+346T>C - IntronicSNV - 75/78 1
X-31165257-T-C c.10797+135A>G - IntronicSNV - 75/78 1
X-31165310-C-T c.10797+82G>A - IntronicSNV - 75/78 4
X-31165350-G-C c.10797+42C>G - IntronicSNV - 75/78 4
X-31165386-C-T c.10797+6G>A - IntronicSNV - 75/78 1
X-31165387-C-T c.10797+5G>A - IntronicSNV - 75/78 2
X-31165391-C-T c.10797+1G>A - IntronicSNV - 75/78 2
X-31165393-T-TG c.10795dup p.Q3599Pfs*44 SpliceDonorInsertion 75/79 - 1
X-31165397-C-A c.10792G>T p.E3598* Nonsense 75/79 - 1
X-31165397-C-T c.10792G>A p.E3598K Missense 75/79 - 2
X-31165398-C-A c.10791G>T p.L3597= Synonymous 75/79 - 1
X-31165398-C-G c.10791G>C p.L3597= Synonymous 75/79 - 1
X-31165398-C-T c.10791G>A p.L3597= Synonymous 75/79 - 1
X-31165400-G-A c.10789C>T p.L3597= Synonymous 75/79 - 4
X-31165402-A-G c.10787T>C p.L3596P Missense 75/79 - 3
X-31165405-T-A c.10784A>T p.Q3595L Missense 75/79 - 1
X-31165406-G-A c.10783C>T p.Q3595* Nonsense 75/79 - 2
X-31165406-G-T c.10783C>A p.Q3595K Missense 75/79 - 1
X-31165410-T-A c.10779A>T p.L3593= Synonymous 75/79 - 1
X-31165410-T-C c.10779A>G p.L3593= Synonymous 75/79 - 1
X-31165410-T-G c.10779A>C p.L3593= Synonymous 75/79 - 1
X-31165412-G-A c.10777C>T p.L3593= Synonymous 75/79 - 1
X-31165414-C-G c.10775G>C p.R3592T Missense 75/79 - 3
X-31165417-T-A c.10772A>T p.H3591L Missense 75/79 - 1
X-31165421-A-T c.10768T>A p.L3590I Missense 75/79 - 3
X-31165424-G-A c.10765C>T p.Q3589* Nonsense 75/79 - 1
X-31165425-TG-AC c.10763_10764delinsGT p.S3588C Missense 75/79 - 1
X-31165428-C-T c.10761G>A p.E3587= Synonymous 75/79 - 1
X-31165430-C-A c.10759G>T p.E3587* Nonsense 75/79 - 2
X-31165435-T-G c.10754A>C p.Q3585P Missense 75/79 - 2
X-31165436-G-A c.10753C>T p.Q3585* Nonsense 75/79 - 3
X-31165438-T-C c.10751A>G p.K3584R Missense 75/79 - 1
X-31165444-T-C c.10745A>G p.H3582R Missense 75/79 - 1
X-31165445-G-A c.10744C>T p.H3582Y Missense 75/79 - 1
X-31165446-G-T c.10743C>A p.D3581E Missense 75/79 - 1
X-31165454-G-T c.10735C>A p.L3579M Missense 75/79 - 1
X-31165458-T-A c.10731A>T p.Q3577H Missense 75/79 - 1
X-31165458-T-G c.10731A>C p.Q3577H Missense 75/79 - 1
X-31165456-AT-A c.10732del p.I3578Sfs*16 Frameshift 75/79 - 1
X-31165463-T-G c.10726A>C p.M3576L Missense 75/79 - 1
X-31165464-C-T c.10725G>A p.R3575= Synonymous 75/79 - 1
X-31165465-C-T c.10724G>A p.R3575K Missense 75/79 - 1
X-31165465-CT-TG c.10723_10724delinsCA p.R3575Q Missense 75/79 - 1
X-31165466-TG-T c.10722del p.R3575Gfs*19 Frameshift 75/79 - 1
X-31165473-C-T c.10716G>A p.L3572= Synonymous 75/79 - 2
X-31165475-G-T c.10714C>A p.L3572M Missense 75/79 - 1
X-31165477-C-T c.10712G>A p.R3571H Missense 75/79 - 2
X-31165478-G-A c.10711C>T p.R3571C Missense 75/79 - 1
X-31165484-T-A c.10705A>T p.K3569* Nonsense 75/79 - 1
X-31165487-GT-G c.10701del p.Q3567Hfs*27 Frameshift 75/79 - 1
X-31165492-C-A c.10697G>T p.R3566L Missense 75/79 - 4
X-31165492-C-T c.10697G>A p.R3566H Missense 75/79 - 2
X-31165493-G-A c.10696C>T p.R3566C Missense 75/79 - 9
X-31165494-C-A c.10695G>T p.L3565= Synonymous 75/79 - 1
X-31165494-C-G c.10695G>C p.L3565= Synonymous 75/79 - 1
X-31165494-C-T c.10695G>A p.L3565= Synonymous 75/79 - 1
X-31165496-G-A c.10693C>T p.L3565= Synonymous 75/79 - 1
X-31165497-T-A c.10692A>T p.L3564= Synonymous 75/79 - 2
X-31165497-T-C c.10692A>G p.L3564= Synonymous 75/79 - 2
X-31165497-T-G c.10692A>C p.L3564= Synonymous 75/79 - 2
X-31165499-G-A c.10690C>T p.L3564= Synonymous 75/79 - 2
X-31165499-G-C c.10690C>G p.L3564V Missense 75/79 - 1
X-31165499-G-T c.10690C>A p.L3564I Missense 75/79 - 6
X-31165506-C-A c.10683G>T p.E3561D Missense 75/79 - 8
X-31165506-C-G c.10683G>C p.E3561D Missense 75/79 - 5
X-31165508-C-G c.10681G>C p.E3561Q Missense 75/79 - 1
X-31165511-C-G c.10678G>C p.A3560P Missense 75/79 - 1
X-31165515-G-A c.10674C>T p.L3558= Synonymous 75/79 - 1
X-31165518-C-A c.10671G>T p.E3557D Missense 75/79 - 2
X-31165518-C-G c.10671G>C p.E3557D Missense 75/79 - 1
X-31165523-C-A c.10666G>T p.A3556S Missense 75/79 - 4
X-31165526-C-T c.10663G>A p.D3555N Missense 75/79 - 1
X-31165528-C-T c.10661G>A p.R3554Q Missense 75/79 - 1
X-31165529-G-A c.10660C>T p.R3554W Missense 75/79 - 1
X-31165530-G-C c.10659C>G p.P3553= Synonymous 75/79 - 1
X-31165531-G-A c.10658C>T p.P3553L Missense 75/79 - 1
X-31165528-CG-C c.10660del p.R3554Gfs*40 Frameshift 75/79 - 1
X-31165532-G-A c.10657C>T p.P3553S Missense 75/79 - 1
X-31165538-G-A c.10651C>T p.Q3551* Nonsense 75/79 - 2
X-31165537-TG-T c.10651del p.Q3551Rfs*43 Frameshift 75/79 - 1
X-31165546-G-A c.10643C>T p.T3548I Missense 75/79 - 3
X-31165556-T-C c.10633A>G p.M3545V Missense 75/79 - 2
X-31165562-G-A c.10627C>T p.P3543S Missense 75/79 - 2
X-31165562-G-T c.10627C>A p.P3543T Missense 75/79 - 1
X-31165563-AGG-A c.10624_10625del p.P3542Sfs*2 Frameshift 75/79 - 1
X-31165569-C-T c.10620G>A p.P3540= Synonymous 75/79 - 2
X-31165570-G-A c.10619C>T p.P3540L Missense 75/79 - 1
X-31165571-G-A c.10618C>T p.P3540S Missense 75/79 - 1
X-31165574-G-C c.10615C>G p.L3539V Missense 75/79 - 2
X-31165577-G-GTC c.10611_10612insGA p.P3538Dfs*9 Frameshift 75/79 - 3
X-31165577-G-T c.10612C>A p.P3538T Missense 75/79 - 4
X-31165579-G-T c.10610C>A p.S3537Y Missense 75/79 - 1
X-31165580-A-T c.10609T>A p.S3537T Missense 75/79 - 2
X-31165580-GA-G c.10609del p.S3537Pfs*9 Frameshift 75/79 - 1
X-31165581-C-T c.10608G>A p.L3536= Synonymous 75/79 - 1
X-31165582-A-G c.10607T>C p.L3536P Missense 75/79 - 1
X-31165589-T-TTC c.10599_10600insGA p.K3534Efs*13 Frameshift 75/79 - 2
X-31165594-T-C c.10595A>G p.E3532G Missense 75/79 - 2
X-31165595-C-T c.10594G>A p.E3532K Missense 75/79 - 1
X-31165596-G-A c.10593C>T p.H3531= Synonymous 75/79 - 1
X-31165596-G-C c.10593C>G p.H3531Q Missense 75/79 - 2
X-31165596-G-T c.10593C>A p.H3531Q Missense 75/79 - 1
X-31165601-G-GTC c.10587_10588insGA p.Q3530Dfs*17 Frameshift 75/79 - 1
X-31165601-G-T c.10588C>A p.Q3530K Missense 75/79 - 2
X-31165605-C-A c.10584G>T p.K3528N Missense 75/79 - 2
X-31165605-C-G c.10584G>C p.K3528N Missense 75/79 - 1
X-31165612-C-T c.10577G>A p.R3526H Missense 75/79 - 8
X-31165613-G-A c.10576C>T p.R3526C Missense 75/79 - 2
X-31165622-C-A c.10567G>T p.E3523* Nonsense 75/79 - 1
X-31165631-G-T c.10558C>A p.L3520M Missense 75/79 - 1
X-31165675-G-A c.10554-40C>T - IntronicSNV - 74/78 1
X-31165675-G-T c.10554-40C>A - IntronicSNV - 74/78 1
X-31187397-CA-C c.10553+162del - IntronicDeletion - 74/78 1
X-31187397-C-CA c.10553+162dup - IntronicInsertion - 74/78 1
X-31187543-C-A c.10553+17G>T - IntronicSNV - 74/78 1
X-31187564-T-A c.10549A>T p.N3517Y Missense 74/79 - 4
X-31187564-T-C c.10549A>G p.N3517D Missense 74/79 - 1
X-31187564-T-TACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGTGTC c.10548_10549insGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGT p.E3516_N3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG InFrameInsertion 74/79 - 1
X-31187567-C-A c.10546G>T p.E3516* Nonsense 74/79 - 1
X-31187570-C-A c.10543G>T p.E3515* Nonsense 74/79 - 1
X-31187586-G-A c.10527C>T p.I3509= Synonymous 74/79 - 2
X-31187596-A-T c.10517T>A p.L3506Q Missense 74/79 - 2
X-31187603-C-G c.10510G>C p.G3504R Missense 74/79 - 1
X-31187603-C-T c.10510G>A p.G3504R Missense 74/79 - 1
X-31187602-CCT-C c.10509_10510del p.E3505Afs*9 Frameshift 74/79 - 2
X-31187608-T-G c.10505A>C p.E3502A Missense 74/79 - 1
X-31187609-C-A c.10504G>T p.E3502* Nonsense 74/79 - 1
X-31187610-C-G c.10503G>C p.E3501D Missense 74/79 - 1
X-31187610-C-T c.10503G>A p.E3501= Synonymous 74/79 - 1
X-31187612-C-A c.10501G>T p.E3501* Nonsense 74/79 - 1
X-31187611-TCA-T c.10500_10501del p.S3500Rfs*14 Frameshift 74/79 - 1
X-31187613-ACT-A c.10498_10499del p.S3500* Frameshift 74/79 - 5
X-31187618-C-A c.10495G>T p.E3499* Nonsense 74/79 - 1
X-31187623-G-A c.10490C>T p.S3497F Missense 74/79 - 2
X-31187635-CT-C c.10478del p.Q3493Rfs*3 Frameshift 74/79 - 2
X-31187636-G-T c.10477C>A p.Q3493K Missense 74/79 - 1
X-31187642-GACT-G c.10468_10470del p.S3490del InFrameDeletion 74/79 - 1
X-31187646-AC-TT c.10466_10467delinsAA p.R3489Q Missense 74/79 - 1
X-31187647-C-T c.10466G>A p.R3489H Missense 74/79 - 1
X-31187648-G-A c.10465C>T p.R3489C Missense 74/79 - 3
X-31187656-C-A c.10457G>T p.S3486I Missense 74/79 - 1
X-31187658-C-T c.10455G>A p.L3485= Synonymous 74/79 - 1
X-31187659-AG-TA c.10453_10454delinsTA p.L3485* Nonsense 74/79 - 3
X-31187659-CA-C c.10454del p.L3485Rfs*11 Frameshift 74/79 - 6
X-31187659-CAG-C c.10453_10454del p.L3485Efs*5 Frameshift 74/79 - 3
X-31187659-A-AG c.10453dup p.L3485Pfs*6 Frameshift 74/79 - 8
X-31187659-AG-A c.10453del p.L3485* Frameshift 74/79 - 3
X-31187671-T-C c.10442A>G p.Q3481R Missense 74/79 - 3
X-31187672-G-A c.10441C>T p.Q3481* Nonsense 74/79 - 1
X-31187672-G-T c.10441C>A p.Q3481K Missense 74/79 - 2
X-31187673-G-C c.10440C>G p.N3480K Missense 74/79 - 1
X-31187684-G-A c.10429C>T p.Q3477* Nonsense 74/79 - 1
X-31187685-G-A c.10428C>T p.C3476= Synonymous 74/79 - 1
X-31187696-G-A c.10417C>T p.Q3473* Nonsense 74/79 - 1
X-31187701-A-C c.10412T>G p.L3471* Nonsense 74/79 - 2
X-31187701-A-T c.10412T>A p.L3471* Nonsense 74/79 - 1
X-31187703-C-A c.10410G>T p.L3470F Missense 74/79 - 2
X-31187703-C-G c.10410G>C p.L3470F Missense 74/79 - 2
X-31187703-CA-C c.10409del p.L3470Cfs*2 Frameshift 74/79 - 1
X-31187703-C-CA c.10409dup p.L3470Ffs*21 Frameshift 74/79 - 1
X-31187706-A-AT c.10406dup p.H3469Qfs*22 Frameshift 74/79 - 1
X-31187706-A-ATT c.10406_10407insAA p.H3469Qfs*4 Frameshift 74/79 - 1
X-31187710-T-A c.10403A>T p.E3468V Missense 74/79 - 1
X-31187711-C-A c.10402G>T p.E3468* Nonsense 74/79 - 3
X-31187716-TC-CG c.10396_10397delinsCG p.D3466R Missense 74/79 - 1
X-31187717-C-A c.10396G>T p.D3466Y Missense 74/79 - 1
X-31187717-C-T c.10396G>A p.D3466N Missense 74/79 - 1
X-31187896-C-T c.10395-178G>A - IntronicSNV - 73/78 1
X-31190466-T-C c.10393A>G p.I3465V Missense 73/79 - 1
X-31190472-C-T c.10387G>A p.E3463K Missense 73/79 - 1
X-31190473-A-C c.10386T>G p.N3462K Missense 73/79 - 1
X-31190473-A-T c.10386T>A p.N3462K Missense 73/79 - 1
X-31190473-CA-C c.10386del p.N3462Kfs*4 Frameshift 73/79 - 1
X-31190482-G-A c.10377C>T p.I3459= Synonymous 73/79 - 1
X-31190484-T-A c.10375A>T p.I3459F Missense 73/79 - 1
X-31190486-C-A c.10373G>T p.S3458I Missense 73/79 - 1
X-31190490-C-G c.10369G>C p.D3457H Missense 73/79 - 1
X-31190491-CA-C c.10368del p.N3456Kfs*10 Frameshift 73/79 - 1
X-31190494-T-TA c.10364dup p.N3456Kfs*2 Frameshift 73/79 - 2
X-31190497-A-T c.10362T>A p.Y3454* Nonsense 73/79 - 1
X-31190500-A-C c.10359T>G p.S3453= Synonymous 73/79 - 1
X-31190500-A-G c.10359T>C p.S3453= Synonymous 73/79 - 1
X-31190500-A-T c.10359T>A p.S3453= Synonymous 73/79 - 1
X-31190504-C-A c.10355G>T p.G3452V Missense 73/79 - 1
X-31190507-T-C c.10352A>G p.N3451S Missense 73/79 - 1
X-31190518-C-T c.10341G>A p.M3447I Missense 73/79 - 1
X-31190519-A-T c.10340T>A p.M3447K Missense 73/79 - 1
X-31190524-T-C c.10335A>G p.A3445= Synonymous 73/79 - 2
X-31190524-TGC-ACA c.10333_10335delinsTGT p.A3445C Missense 73/79 - 1
X-31190526-C-T c.10333G>A p.A3445T Missense 73/79 - 1
X-31191589-C-G c.10328+67G>C - IntronicSNV - 72/78 9
X-31191589-C-T c.10328+67G>A - IntronicSNV - 72/78 11
X-31191660-T-C c.10324A>G p.S3442G Missense 72/79 - 1
X-31191661-A-C c.10323T>G p.A3441= Synonymous 72/79 - 1
X-31191661-A-G c.10323T>C p.A3441= Synonymous 72/79 - 1
X-31191661-A-T c.10323T>A p.A3441= Synonymous 72/79 - 1
X-31191664-A-T c.10320T>A p.Y3440* Nonsense 72/79 - 1
X-31191665-T-C c.10319A>G p.Y3440C Missense 72/79 - 1
X-31191669-G-T c.10315C>A p.H3439N Missense 72/79 - 2
X-31191670-T-A c.10314A>T p.E3438D Missense 72/79 - 1
X-31191670-T-G c.10314A>C p.E3438D Missense 72/79 - 1
X-31191677-C-T c.10307G>A p.R3436H Missense 72/79 - 1
X-31191678-G-A c.10306C>T p.R3436C Missense 72/79 - 1
X-31191680-G-C c.10304C>G p.S3435* Nonsense 72/79 - 1
X-31191680-G-T c.10304C>A p.S3435* Nonsense 72/79 - 1
X-31191684-G-A c.10300C>T p.H3434Y Missense 72/79 - 1
X-31191686-GTA-G c.10296_10297del p.T3433Sfs*5 Frameshift 72/79 - 1
X-31191694-G-A c.10290C>T p.H3430= Synonymous 72/79 - 1
X-31191705-G-A c.10279C>T p.Q3427* Nonsense 72/79 - 2
X-31191711-GA-G c.10273del p.S3425Pfs*20 Frameshift 72/79 - 1
X-31191718-A-AG c.10265dup p.A3423Cfs*10 SpliceAcceptorInsertion 72/79 - 1
X-31196048-C-T c.10262+1G>A - IntronicSNV - 71/78 7
X-31196049-G-A c.10262C>T p.A3421V Missense 71/79 - 6
X-31196050-C-A c.10261G>T p.A3421S Missense 71/79 - 1
X-31196052-G-GA c.10258dup p.S3420Ffs*13 Frameshift 71/79 - 1
X-31196062-G-C c.10249C>G p.P3417A Missense 71/79 - 2
X-31196063-C-T c.10248G>A p.W3416* Nonsense 71/79 - 1
X-31196064-C-A c.10247G>T p.W3416L Missense 71/79 - 2
X-31196064-C-T c.10247G>A p.W3416* Nonsense 71/79 - 1
X-31196068-A-ATC c.10242_10243insGA p.F3415Dfs*5 Frameshift 71/79 - 1
X-31196075-C-T c.10236G>A p.L3412= Synonymous 71/79 - 1
X-31196076-A-C c.10235T>G p.L3412R Missense 71/79 - 1
X-31196076-CA-C c.10235del p.L3412Rfs*7 Frameshift 71/79 - 2
X-31196075-CAGAGT-C c.10231_10235del p.T3411Dfs*20 Frameshift 71/79 - 2
X-31196079-G-T c.10232C>A p.T3411N Missense 71/79 - 1
X-31196079-G-GT c.10231dup p.T3411Nfs*22 Frameshift 71/79 - 1
X-31196080-T-TA c.10230dup p.T3411Yfs*22 Frameshift 71/79 - 1
X-31196083-C-G c.10228G>C p.V3410L Missense 71/79 - 1
X-31196083-C-T c.10228G>A p.V3410I Missense 71/79 - 2
X-31196086-G-C c.10225C>G p.P3409A Missense 71/79 - 1
X-31196086-G-T c.10225C>A p.P3409T Missense 71/79 - 1
X-31196086-G-GA c.10224dup p.P3409Sfs*24 SpliceAcceptorInsertion - - 1
X-31196549-GT-G c.10223+236del - IntronicDeletion - 70/78 2
X-31196565-C-T c.10223+221G>A - IntronicSNV - 70/78 1
X-31196564-TC-T c.10223+221del - IntronicDeletion - 70/78 2
X-31196781-C-A c.10223+5G>T - IntronicSNV - 70/78 1
X-31196781-C-T c.10223+5G>A - IntronicSNV - 70/78 1
X-31196784-A-C c.10223+2T>G - IntronicSNV - 70/78 1
X-31196785-C-A c.10223+1G>T - IntronicSNV - 70/78 2
X-31196785-C-G c.10223+1G>C - IntronicSNV - 70/78 1
X-31196785-C-T c.10223+1G>A - IntronicSNV - 70/78 6
X-31196786-G-A c.10223C>T p.T3408I Missense 70/79 - 1
X-31196786-G-T c.10223C>A p.T3408N Missense 70/79 - 1
X-31196790-C-A c.10219G>T p.E3407* Nonsense 70/79 - 3
X-31196792-A-C c.10217T>G p.M3406R Missense 70/79 - 1
X-31196793-T-A c.10216A>T p.M3406L Missense 70/79 - 4
X-31196793-T-C c.10216A>G p.M3406V Missense 70/79 - 1
X-31196794-G-C c.10215C>G p.N3405K Missense 70/79 - 1
X-31196794-G-T c.10215C>A p.N3405K Missense 70/79 - 2
X-31196797-G-C c.10212C>G p.D3404E Missense 70/79 - 2
X-31196809-G-C c.10200C>G p.V3400= Synonymous 70/79 - 1
X-31196814-T-C c.10195A>G p.T3399A Missense 70/79 - 1
X-31196817-G-A c.10192C>T p.Q3398* Nonsense 70/79 - 1
X-31196827-G-T c.10182C>A p.Y3394* Nonsense 70/79 - 1
X-31196837-C-T c.10172G>A p.R3391Q Missense 70/79 - 8
X-31196838-G-A c.10171C>T p.R3391* Nonsense 70/79 - 25
X-31196840-G-A c.10169C>T p.P3390L Missense 70/79 - 2
X-31196840-G-T c.10169C>A p.P3390H Missense 70/79 - 1
X-31196841-G-A c.10168C>T p.P3390S Missense 70/79 - 6
X-31196845-C-T c.10164G>A p.K3388= Synonymous 70/79 - 1
X-31196849-G-A c.10160C>T p.A3387V Missense 70/79 - 2
X-31196850-C-A c.10159G>T p.A3387S Missense 70/79 - 1
X-31196856-A-C c.10153T>G p.Y3385D Missense 70/79 - 1
X-31196857-C-T c.10152G>A p.R3384= Synonymous 70/79 - 1
X-31196862-T-A c.10147A>T p.K3383* Nonsense 70/79 - 1
X-31196866-T-A c.10143A>T p.R3381= Synonymous 70/79 - 1
X-31196866-T-C c.10143A>G p.R3381= Synonymous 70/79 - 1
X-31196866-T-G c.10143A>C p.R3381= Synonymous 70/79 - 1
X-31196868-G-A c.10141C>T p.R3381* Nonsense 70/79 - 23
X-31196868-G-T c.10141C>A p.R3381= Synonymous 70/79 - 1
X-31196870-A-C c.10139T>G p.F3380C Missense 70/79 - 4
X-31196874-T-A c.10135A>T p.K3379* Nonsense 70/79 - 1
X-31196874-TGTTTTTTA-T c.10127_10134del p.L3376Qfs*54 Frameshift 70/79 - 1
X-31196877-T-G c.10132A>C p.N3378H Missense 70/79 - 1
X-31196877-T-TA c.10131_10132insT p.N3378* Nonsense 70/79 - 1
X-31196878-T-A c.10131A>T p.K3377N Missense 70/79 - 1
X-31196878-T-G c.10131A>C p.K3377N Missense 70/79 - 1
X-31196880-T-A c.10129A>T p.K3377* Nonsense 70/79 - 1
X-31196875-G-GT c.10133dup p.N3378Kfs*55 Frameshift 70/79 - 1
X-31196875-GT-G c.10133del p.N3378Tfs*24 Frameshift 70/79 - 1
X-31196882-A-G c.10127T>C p.L3376P Missense 70/79 - 1
X-31196883-AG-A c.10126del p.L3376* Frameshift 70/79 - 2
X-31196883-G-T c.10126C>A p.L3376I Missense 70/79 - 4
X-31196890-G-A c.10119C>T p.A3373= Synonymous 70/79 - 1
X-31196900-C-G c.10109G>C p.R3370P Missense 70/79 - 1
X-31196901-G-A c.10108C>T p.R3370* Nonsense 70/79 - 19
X-31196903-A-G c.10106T>C p.V3369A Missense 70/79 - 1
X-31196904-C-A c.10105G>T p.V3369F Missense 70/79 - 1
X-31196907-C-A c.10102G>T p.D3368Y Missense 70/79 - 2
X-31196907-C-T c.10102G>A p.D3368N Missense 70/79 - 1
X-31196907-TC-T c.10102del p.D3368Mfs*9 Frameshift 70/79 - 1
X-31196905-ATCT-A c.10101_10103del p.E3367del InFrameDeletion 70/79 - 10
X-31196911-T-A c.10098A>T p.G3366= Synonymous 70/79 - 1
X-31196911-T-C c.10098A>G p.G3366= Synonymous 70/79 - 1
X-31196911-T-G c.10098A>C p.G3366= Synonymous 70/79 - 1
X-31196909-TCTC-T c.10097_10099del p.G3366del InFrameDeletion 70/79 - 1
X-31196915-G-C c.10094C>G p.S3365* Nonsense 70/79 - 1
X-31196942-G-A c.10087-20C>T - IntronicSNV - 69/78 2
X-31198482-C-A c.10086+5G>T - IntronicSNV - 69/78 1
X-31198482-C-G c.10086+5G>C - IntronicSNV - 69/78 1
X-31198485-A-G c.10086+2T>C - IntronicSNV - 69/78 2
X-31198486-C-T c.10086+1G>A - IntronicSNV - 69/78 2
X-31198487-CCGG-C c.10084_10086del p.P3362del InFrameDeletion 69/79 - 1
X-31198488-G-A c.10085C>T p.P3362L Missense 69/79 - 4
X-31198489-G-A c.10084C>T p.P3362S Missense 69/79 - 1
X-31198492-T-C c.10081A>G p.T3361A Missense 69/79 - 2
X-31198505-C-T c.10068G>A p.M3356I Missense 69/79 - 1
X-31198516-G-GAAGAGCTTGGGTATTTATCAATGCAAGTTCTTCGTCAGCTATTGAATTACTTTCCAAAAGAGAAATTTCATTGAATTTTTTAAATGGAGTCATCTGAGGAGAATTCAGTTCTTTTTTCTTTATGGGTGTTTCGTATTTGGTGCCACAACTCCTTGGTGGCTGAAATGCCTTCTGTGCAGCCGGAGAAACAAATGTACAAATGGGACTAACAGGTGGAGGTAAAGGCAGTCTACTCAAGAAATCCAAGGCAAAACGCAGCCCCCAGGCACCCACCGCCCCAGATGAGCCTCCCATCTTCTCCAGGAGCAGAACAGACAACAGGACTCCAAGGGTTGCACGTATTGGAGTCCTGTTGTCTGTTCTGCTCCTGGAGAAGATGGGAGGCTCATCTGGGGCGGTGGGTGCCTGGGGGCTGAAGGGGGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCC c.10056_10057insGGAGAATTCAGTTCTTTTTTCTTTATGGGTGTTTCGTATTTGGTGCCACAACTCCTTGGTGGCTGAAATGCCTTCTGTGCAGCCGGAGAAACAAATGTACAAATGGGACTAACAGGTGGAGGTAAAGGCAGTCTACTCAAGAAATCCAAGGCCCCCTTCAGCCCCCAGGCACCCACCGCCCCAGATGAGCCTCCCATCTTCTCCAGGAGCAGAACAGACAACAGGACTCCAATACGTGCAACCCTTGGAGTCCTGTTGTCTGTTCTGCTCCTGGAGAAGATGGGAGGCTCATCTGGGGCGGTGGGTGCCTGGGGGCTGCGTTTTGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTT p.M3352_H3353insGEFSSFFFMGVSYLVPQLLGG* Frameshift 69/79 - 1
X-31198517-C-A c.10056G>T p.M3352I Missense 69/79 - 1
X-31198517-C-G c.10056G>C p.M3352I Missense 69/79 - 1
X-31198517-C-T c.10056G>A p.M3352I Missense 69/79 - 1
X-31198528-C-T c.10045G>A p.G3349S Missense 69/79 - 1
X-31198535-AAC-CAT c.10036_10038delinsATG p.V3346M Missense 69/79 - 1
X-31198539-C-G c.10034G>C p.R3345P Missense 69/79 - 1
X-31198540-G-A c.10033C>T p.R3345* Nonsense 69/79 - 9
X-31198540-G-C c.10033C>G p.R3345G Missense 69/79 - 2
X-31198543-C-G c.10030G>C p.G3344R Missense 69/79 - 1
X-31198545-G-GA c.10027dup p.S3343Ffs*9 Frameshift 69/79 - 2
X-31198553-G-A c.10020C>T p.C3340= Synonymous 69/79 - 1
X-31198553-G-T c.10020C>A p.C3340* Nonsense 69/79 - 1
X-31198554-C-T c.10019G>A p.C3340Y Missense 69/79 - 10
X-31198554-C-G c.10019G>C p.C3340S Missense 69/79 - 1
X-31198555-A-T c.10018T>A p.C3340S Missense 69/79 - 1
X-31198556-G-C c.10017C>G p.S3339R Missense 69/79 - 3
X-31198556-G-T c.10017C>A p.S3339R Missense 69/79 - 3
X-31198558-T-G c.10015A>C p.S3339R Missense 69/79 - 3
X-31198561-G-T c.10012C>A p.Q3338K Missense 69/79 - 1
X-31198562-G-C c.10011C>G p.C3337W Missense 69/79 - 3
X-31198563-C-T c.10010G>A p.C3337Y Missense 69/79 - 2
X-31198565-G-A c.10008C>T p.I3336= Synonymous 69/79 - 1
X-31198568-G-A c.10005C>T p.D3335= Synonymous 69/79 - 1
X-31198570-C-G c.10003G>C p.D3335H Missense 69/79 - 4
X-31198572-T-C c.10001A>G p.Y3334C Missense 69/79 - 1
X-31198576-T-G c.9997A>C p.N3333H Missense 69/79 - 1
X-31198582-G-T c.9991C>A p.H3331N Missense 69/79 - 1
X-31198593-C-A c.9980G>T p.R3327M Missense 69/79 - 1
X-31198593-C-T c.9980G>A p.R3327K Missense 69/79 - 3
X-31198595-G-C c.9978C>G p.Y3326* Nonsense 69/79 - 1
X-31200680-A-T c.9974+175T>A - IntronicSNV - 68/78 3
X-31200833-T-A c.9974+22A>T - IntronicSNV - 68/78 1
X-31200832-A-AT c.9974+22dup - IntronicInsertion - 68/78 2
X-31200832-AT-A c.9974+22del - IntronicDeletion - 68/78 4
X-31200853-A-G c.9974+2T>C - IntronicSNV - 68/78 1
X-31200861-C-A c.9968G>T p.G3323V Missense 68/79 - 1
X-31200870-G-A c.9959C>T p.P3320L Missense 68/79 - 2
X-31200871-G-A c.9958C>T p.P3320S Missense 68/79 - 2
X-31200871-G-T c.9958C>A p.P3320T Missense 68/79 - 1
X-31200873-C-T c.9956G>A p.C3319Y Missense 68/79 - 1
X-31200874-A-C c.9955T>G p.C3319G Missense 68/79 - 1
X-31200874-A-G c.9955T>C p.C3319R Missense 68/79 - 1
X-31200875-C-A c.9954G>T p.E3318D Missense 68/79 - 2
X-31200875-C-G c.9954G>C p.E3318D Missense 68/79 - 1
X-31200876-T-A c.9953A>T p.E3318V Missense 68/79 - 1
X-31200874-ACT-A c.9953_9954del p.E3318Vfs*15 Frameshift 68/79 - 1
X-31200881-G-GC c.9947dup p.C3316Wfs*18 Frameshift 68/79 - 1
X-31200882-C-T c.9947G>A p.C3316Y Missense 68/79 - 1
X-31200885-A-T c.9944T>A p.I3315N Missense 68/79 - 7
X-31200891-C-A c.9938G>T p.C3313F Missense 68/79 - 3
X-31200891-C-T c.9938G>A p.C3313Y Missense 68/79 - 2
X-31200892-A-G c.9937T>C p.C3313R Missense 68/79 - 1
X-31200894-T-G c.9935A>C p.K3312T Missense 68/79 - 1
X-31200895-T-G c.9934A>C p.K3312Q Missense 68/79 - 1
X-31200900-T-C c.9929A>G p.Q3310R Missense 68/79 - 4
X-31200901-G-A c.9928C>T p.Q3310* Nonsense 68/79 - 2
X-31200902-A-C c.9927T>G p.H3309Q Missense 68/79 - 1
X-31200902-A-T c.9927T>A p.H3309Q Missense 68/79 - 1
X-31200902-GAT-G c.9926_9927del p.H3309Pfs*5 Frameshift 68/79 - 1
X-31200903-T-C c.9926A>G p.H3309R Missense 68/79 - 1
X-31200909-G-A c.9920C>T p.A3307V Missense 68/79 - 1
X-31200911-AG-CA c.9917_9918delinsTG p.T3306M Missense 68/79 - 1
X-31200911-AG-CC c.9917_9918delinsGG p.T3306R Missense 68/79 - 1
X-31200911-AG-CT c.9917_9918inv p.T3306K Missense 68/79 - 1
X-31200911-AGT-CCA c.9916_9918delinsTGG p.T3306W Missense 68/79 - 1
X-31200911-AGT-CTC c.9916_9918delinsGAG p.T3306E Missense 68/79 - 1
X-31200911-AGT-TTG c.9916_9918delinsCAA p.T3306Q Missense 68/79 - 1
X-31200912-G-A c.9917C>T p.T3306I Missense 68/79 - 1
X-31200912-G-C c.9917C>G p.T3306S Missense 68/79 - 1
X-31200912-G-T c.9917C>A p.T3306N Missense 68/79 - 1
X-31200912-GT-AA c.9916_9917delinsTT p.T3306F Missense 68/79 - 1
X-31200912-GT-AC c.9916_9917inv p.T3306V Missense 68/79 - 1
X-31200912-GT-AG c.9916_9917delinsCT p.T3306L Missense 68/79 - 1
X-31200912-GT-CA c.9916_9917delinsTG p.T3306C Missense 68/79 - 1
X-31200912-GT-CC c.9916_9917delinsGG p.T3306G Missense 68/79 - 1
X-31200912-GT-TA c.9916_9917delinsTA p.T3306Y Missense 68/79 - 1
X-31200912-GT-TC c.9916_9917delinsGA p.T3306D Missense 68/79 - 1
X-31200912-GT-TG c.9916_9917delinsCA p.T3306H Missense 68/79 - 1
X-31200913-T-A c.9916A>T p.T3306S Missense 68/79 - 1
X-31200913-T-C c.9916A>G p.T3306A Missense 68/79 - 1
X-31200913-T-G c.9916A>C p.T3306P Missense 68/79 - 1
X-31200914-T-A c.9915A>T p.E3305D Missense 68/79 - 1
X-31200914-T-G c.9915A>C p.E3305D Missense 68/79 - 1
X-31200914-TTC-AAA c.9913_9915delinsTTT p.E3305F Missense 68/79 - 1
X-31200914-TTC-ACA c.9913_9915delinsTGT p.E3305C Missense 68/79 - 1
X-31200914-TTC-ATA c.9913_9915delinsTAT p.E3305Y Missense 68/79 - 1
X-31200914-TTC-ATG c.9913_9915delinsCAT p.E3305H Missense 68/79 - 1
X-31200914-TTC-CAT c.9913_9915delinsATG p.E3305M Missense 68/79 - 1
X-31200914-TTC-CCA c.9913_9915delinsTGG p.E3305W Missense 68/79 - 1
X-31200914-TTC-GTT c.9913_9915delinsAAC p.E3305N Missense 68/79 - 1
X-31200915-T-A c.9914A>T p.E3305V Missense 68/79 - 1
X-31200915-T-C c.9914A>G p.E3305G Missense 68/79 - 1
X-31200915-TC-AG c.9913_9914delinsCT p.E3305L Missense 68/79 - 1
X-31200915-TC-AT c.9913_9914delinsAT p.E3305I Missense 68/79 - 1
X-31200915-TC-CT c.9913_9914delinsAG p.E3305R Missense 68/79 - 1
X-31200915-TC-GA c.9913_9914inv p.E3305S Missense 68/79 - 1
X-31200915-TC-GG c.9913_9914delinsCC p.E3305P Missense 68/79 - 1
X-31200915-TC-GT c.9913_9914delinsAC p.E3305T Missense 68/79 - 1
X-31200915-T-G c.9914A>C p.E3305A Missense 68/79 - 1
X-31200916-C-A c.9913G>T p.E3305* Nonsense 68/79 - 2
X-31200916-C-G c.9913G>C p.E3305Q Missense 68/79 - 1
X-31200916-C-T c.9913G>A p.E3305K Missense 68/79 - 1
X-31200917-TGC-AAA c.9910_9912delinsTTT p.A3304F Missense 68/79 - 1
X-31200917-TGC-ACA c.9910_9912delinsTGT p.A3304C Missense 68/79 - 1
X-31200917-TGC-ATA c.9910_9912delinsTAT p.A3304Y Missense 68/79 - 1
X-31200917-TGC-ATG c.9910_9912delinsCAT p.A3304H Missense 68/79 - 1
X-31200917-TGC-CAT c.9910_9912delinsATG p.A3304M Missense 68/79 - 1
X-31200917-TGC-CCA c.9910_9912delinsTGG p.A3304W Missense 68/79 - 1
X-31200917-TGC-GTT c.9910_9912delinsAAC p.A3304N Missense 68/79 - 1
X-31200917-TG-GT c.9911_9912delinsAC p.A3304D Missense 68/79 - 1
X-31200918-G-A c.9911C>T p.A3304V Missense 68/79 - 1
X-31200918-G-C c.9911C>G p.A3304G Missense 68/79 - 1
X-31200918-GC-AG c.9910_9911delinsCT p.A3304L Missense 68/79 - 1
X-31200918-GC-AT c.9910_9911delinsAT p.A3304I Missense 68/79 - 1
X-31200918-GC-CT c.9910_9911delinsAG p.A3304R Missense 68/79 - 1
X-31200918-GC-TG c.9910_9911delinsCA p.A3304Q Missense 68/79 - 1
X-31200918-GC-TT c.9910_9911delinsAA p.A3304K Missense 68/79 - 1
X-31200918-G-T c.9911C>A p.A3304E Missense 68/79 - 1
X-31200919-C-A c.9910G>T p.A3304S Missense 68/79 - 1
X-31200919-C-G c.9910G>C p.A3304P Missense 68/79 - 1
X-31200919-C-T c.9910G>A p.A3304T Missense 68/79 - 1
X-31200920-AGC-CAT c.9907_9909delinsATG p.A3303M Missense 68/79 - 1
X-31200920-AGC-CCA c.9907_9909delinsTGG p.A3303W Missense 68/79 - 1
X-31200920-AGC-CTT c.9907_9909delinsAAG p.A3303K Missense 68/79 - 1
X-31200920-AG-CT c.9908_9909inv p.A3303E Missense 68/79 - 1
X-31200920-AGC-TTG c.9907_9909delinsCAA p.A3303Q Missense 68/79 - 1
X-31200921-G-A c.9908C>T p.A3303V Missense 68/79 - 1
X-31200921-G-C c.9908C>G p.A3303G Missense 68/79 - 1
X-31200921-GC-AA c.9907_9908delinsTT p.A3303F Missense 68/79 - 1
X-31200921-GC-AG c.9907_9908delinsCT p.A3303L Missense 68/79 - 1
X-31200921-GC-AT c.9907_9908delinsAT p.A3303I Missense 68/79 - 1
X-31200921-GC-CA c.9907_9908delinsTG p.A3303C Missense 68/79 - 1
X-31200921-GC-CG c.9907_9908delinsCG p.A3303R Missense 68/79 - 1
X-31200921-GC-TA c.9907_9908delinsTA p.A3303Y Missense 68/79 - 1
X-31200921-GC-TG c.9907_9908delinsCA p.A3303H Missense 68/79 - 1
X-31200921-GC-TT c.9907_9908delinsAA p.A3303N Missense 68/79 - 1
X-31200921-G-T c.9908C>A p.A3303D Missense 68/79 - 1
X-31200922-C-A c.9907G>T p.A3303S Missense 68/79 - 1
X-31200922-C-G c.9907G>C p.A3303P Missense 68/79 - 1
X-31200922-C-T c.9907G>A p.A3303T Missense 68/79 - 3
X-31200923-A-C c.9906T>G p.A3302= Synonymous 68/79 - 1
X-31200923-A-G c.9906T>C p.A3302= Synonymous 68/79 - 1
X-31200923-AGC-CAT c.9904_9906delinsATG p.A3302M Missense 68/79 - 1
X-31200923-AGC-CCA c.9904_9906delinsTGG p.A3302W Missense 68/79 - 1
X-31200923-AGC-CTT c.9904_9906delinsAAG p.A3302K Missense 68/79 - 1
X-31200923-AG-CT c.9905_9906inv p.A3302E Missense 68/79 - 1
X-31200923-AGC-TTG c.9904_9906delinsCAA p.A3302Q Missense 68/79 - 1
X-31200923-A-T c.9906T>A p.A3302= Synonymous 68/79 - 1
X-31200924-G-A c.9905C>T p.A3302V Missense 68/79 - 1
X-31200924-G-C c.9905C>G p.A3302G Missense 68/79 - 1
X-31200924-GC-AA c.9904_9905delinsTT p.A3302F Missense 68/79 - 1
X-31200924-GC-AG c.9904_9905delinsCT p.A3302L Missense 68/79 - 1
X-31200924-GC-AT c.9904_9905delinsAT p.A3302I Missense 68/79 - 1
X-31200924-GC-CA c.9904_9905delinsTG p.A3302C Missense 68/79 - 1
X-31200924-GC-CG c.9904_9905delinsCG p.A3302R Missense 68/79 - 1
X-31200924-GC-TA c.9904_9905delinsTA p.A3302Y Missense 68/79 - 1
X-31200924-GC-TG c.9904_9905delinsCA p.A3302H Missense 68/79 - 1
X-31200924-GC-TT c.9904_9905delinsAA p.A3302N Missense 68/79 - 1
X-31200924-G-T c.9905C>A p.A3302D Missense 68/79 - 1
X-31200925-C-A c.9904G>T p.A3302S Missense 68/79 - 1
X-31200925-C-G c.9904G>C p.A3302P Missense 68/79 - 1
X-31200925-C-T c.9904G>A p.A3302T Missense 68/79 - 1
X-31200926-CAC-AAA c.9901_9903delinsTTT p.V3301F Missense 68/79 - 1
X-31200926-CAC-ACA c.9901_9903delinsTGT p.V3301C Missense 68/79 - 1
X-31200926-CAC-ATA c.9901_9903delinsTAT p.V3301Y Missense 68/79 - 1
X-31200926-CAC-ATG c.9901_9903delinsCAT p.V3301H Missense 68/79 - 1
X-31200926-CAC-GAT c.9901_9903delinsATC p.V3301I Missense 68/79 - 1
X-31200926-CAC-GTT c.9901_9903delinsAAC p.V3301N Missense 68/79 - 1
X-31200926-CA-GT c.9902_9903delinsAC p.V3301D Missense 68/79 - 1
X-31200927-A-C c.9902T>G p.V3301G Missense 68/79 - 1
X-31200927-AC-CA c.9901_9902delinsTG p.V3301W Missense 68/79 - 1
X-31200927-AC-CT c.9901_9902delinsAG p.V3301R Missense 68/79 - 1
X-31200927-AC-GA c.9901_9902delinsTC p.V3301S Missense 68/79 - 1
X-31200927-AC-GG c.9901_9902delinsCC p.V3301P Missense 68/79 - 1
X-31200927-AC-GT c.9901_9902inv p.V3301T Missense 68/79 - 1
X-31200927-AC-TG c.9901_9902delinsCA p.V3301Q Missense 68/79 - 1
X-31200927-AC-TT c.9901_9902delinsAA p.V3301K Missense 68/79 - 1
X-31200927-A-G c.9902T>C p.V3301A Missense 68/79 - 1
X-31200927-A-T c.9902T>A p.V3301E Missense 68/79 - 1
X-31200928-C-A c.9901G>T p.V3301L Missense 68/79 - 1
X-31200928-C-G c.9901G>C p.V3301L Missense 68/79 - 1
X-31200928-C-T c.9901G>A p.V3301M Missense 68/79 - 1
X-31200929-T-A c.9900A>T p.R3300S Missense 68/79 - 1
X-31200929-TC-CA c.9899_9900delinsTG p.R3300M Missense 68/79 - 1
X-31200929-TC-GT c.9899_9900delinsAC p.R3300N Missense 68/79 - 1
X-31200929-TCT-AAA c.9898_9900delinsTTT p.R3300F Missense 68/79 - 1
X-31200929-TCT-ACA c.9898_9900delinsTGT p.R3300C Missense 68/79 - 1
X-31200929-TCT-ATA c.9898_9900delinsTAT p.R3300Y Missense 68/79 - 1
X-31200929-TCT-ATG c.9898_9900delinsCAT p.R3300H Missense 68/79 - 1
X-31200929-TCT-CCA c.9898_9900delinsTGG p.R3300W Missense 68/79 - 1
X-31200929-TCT-GTC c.9898_9900delinsGAC p.R3300D Missense 68/79 - 1
X-31200929-T-G c.9900A>C p.R3300S Missense 68/79 - 1
X-31200930-C-A c.9899G>T p.R3300I Missense 68/79 - 1
X-31200930-C-G c.9899G>C p.R3300T Missense 68/79 - 1
X-31200930-C-T c.9899G>A p.R3300K Missense 68/79 - 1
X-31200930-CT-AC c.9898_9899delinsGT p.R3300V Missense 68/79 - 1
X-31200930-CT-AG c.9898_9899inv p.R3300L Missense 68/79 - 1
X-31200930-CT-GC c.9898_9899delinsGC p.R3300A Missense 68/79 - 1
X-31200930-CT-GG c.9898_9899delinsCC p.R3300P Missense 68/79 - 1
X-31200930-CT-TC c.9898_9899delinsGA p.R3300E Missense 68/79 - 1
X-31200930-CT-TG c.9898_9899delinsCA p.R3300Q Missense 68/79 - 1
X-31200931-T-C c.9898A>G p.R3300G Missense 68/79 - 1
X-31200932-G-C c.9897C>G p.H3299Q Missense 68/79 - 1
X-31200932-G-T c.9897C>A p.H3299Q Missense 68/79 - 1
X-31200932-GTG-CAT c.9895_9897delinsATG p.H3299M Missense 68/79 - 1
X-31200932-GTG-CCA c.9895_9897delinsTGG p.H3299W Missense 68/79 - 1
X-31200932-GTG-CTC c.9895_9897delinsGAG p.H3299E Missense 68/79 - 1
X-31200932-GTG-CTT c.9895_9897delinsAAG p.H3299K Missense 68/79 - 1
X-31200933-T-A c.9896A>T p.H3299L Missense 68/79 - 1
X-31200933-T-C c.9896A>G p.H3299R Missense 68/79 - 2
X-31200933-T-G c.9896A>C p.H3299P Missense 68/79 - 1
X-31200933-TG-AA c.9895_9896delinsTT p.H3299F Missense 68/79 - 1
X-31200933-TG-AC c.9895_9896delinsGT p.H3299V Missense 68/79 - 1
X-31200933-TG-AT c.9895_9896delinsAT p.H3299I Missense 68/79 - 1
X-31200933-TG-CA c.9895_9896inv p.H3299C Missense 68/79 - 1
X-31200933-TG-CC c.9895_9896delinsGG p.H3299G Missense 68/79 - 1
X-31200933-TG-CT c.9895_9896delinsAG p.H3299S Missense 68/79 - 1
X-31200933-TG-GC c.9895_9896delinsGC p.H3299A Missense 68/79 - 1
X-31200933-TG-GT c.9895_9896delinsAC p.H3299T Missense 68/79 - 1
X-31200934-G-A c.9895C>T p.H3299Y Missense 68/79 - 1
X-31200934-G-C c.9895C>G p.H3299D Missense 68/79 - 1
X-31200934-G-T c.9895C>A p.H3299N Missense 68/79 - 1
X-31200935-CA-AT c.9893_9894delinsAT p.L3298H Missense 68/79 - 1
X-31200935-CAG-AAA c.9892_9894delinsTTT p.L3298F Missense 68/79 - 1
X-31200935-CAG-ACA c.9892_9894delinsTGT p.L3298C Missense 68/79 - 1
X-31200935-CAG-ATA c.9892_9894delinsTAT p.L3298Y Missense 68/79 - 1
X-31200935-CAG-GAT c.9892_9894delinsATC p.L3298I Missense 68/79 - 1
X-31200935-CAG-GTC c.9892_9894delinsGAC p.L3298D Missense 68/79 - 1
X-31200935-CAG-GTT c.9892_9894delinsAAC p.L3298N Missense 68/79 - 1
X-31200936-A-C c.9893T>G p.L3298R Missense 68/79 - 1
X-31200936-A-G c.9893T>C p.L3298P Missense 68/79 - 1
X-31200936-AG-CA c.9892_9893delinsTG p.L3298W Missense 68/79 - 1
X-31200936-AG-CC c.9892_9893delinsGG p.L3298G Missense 68/79 - 1
X-31200936-AG-GA c.9892_9893delinsTC p.L3298S Missense 68/79 - 1
X-31200936-AG-GC c.9892_9893delinsGC p.L3298A Missense 68/79 - 1
X-31200936-AG-GT c.9892_9893delinsAC p.L3298T Missense 68/79 - 1
X-31200936-AG-TC c.9892_9893delinsGA p.L3298E Missense 68/79 - 1
X-31200936-AG-TT c.9892_9893delinsAA p.L3298K Missense 68/79 - 1
X-31200936-A-T c.9893T>A p.L3298Q Missense 68/79 - 1
X-31200937-G-C c.9892C>G p.L3298V Missense 68/79 - 1
X-31200937-G-T c.9892C>A p.L3298M Missense 68/79 - 1
X-31200938-GAC-CAT c.9889_9891delinsATG p.V3297M Missense 68/79 - 1
X-31200938-GAC-CCA c.9889_9891delinsTGG p.V3297W Missense 68/79 - 1
X-31200938-GAC-CTT c.9889_9891delinsAAG p.V3297K Missense 68/79 - 1
X-31200938-GA-CT c.9890_9891delinsAG p.V3297E Missense 68/79 - 1
X-31200938-GAC-TTG c.9889_9891delinsCAA p.V3297Q Missense 68/79 - 1
X-31200939-A-C c.9890T>G p.V3297G Missense 68/79 - 1
X-31200939-AC-CA c.9889_9890delinsTG p.V3297C Missense 68/79 - 1
X-31200939-AC-CG c.9889_9890delinsCG p.V3297R Missense 68/79 - 1
X-31200939-AC-CT c.9889_9890delinsAG p.V3297S Missense 68/79 - 1
X-31200939-AC-GG c.9889_9890delinsCC p.V3297P Missense 68/79 - 1
X-31200939-AC-GT c.9889_9890inv p.V3297T Missense 68/79 - 1
X-31200939-AC-TA c.9889_9890delinsTA p.V3297Y Missense 68/79 - 1
X-31200939-AC-TG c.9889_9890delinsCA p.V3297H Missense 68/79 - 1
X-31200939-AC-TT c.9889_9890delinsAA p.V3297N Missense 68/79 - 1
X-31200939-A-G c.9890T>C p.V3297A Missense 68/79 - 1
X-31200939-A-T c.9890T>A p.V3297D Missense 68/79 - 1
X-31200940-C-A c.9889G>T p.V3297F Missense 68/79 - 1
X-31200940-C-G c.9889G>C p.V3297L Missense 68/79 - 1
X-31200940-C-T c.9889G>A p.V3297I Missense 68/79 - 9
X-31200941-G-A c.9888C>T p.P3296= Synonymous 68/79 - 1
X-31200941-G-C c.9888C>G p.P3296= Synonymous 68/79 - 1
X-31200941-GGG-CAT c.9886_9888delinsATG p.P3296M Missense 68/79 - 1
X-31200941-GGG-CCA c.9886_9888delinsTGG p.P3296W Missense 68/79 - 1
X-31200941-GGG-CTC c.9886_9888delinsGAG p.P3296E Missense 68/79 - 1
X-31200941-GGG-CTT c.9886_9888delinsAAG p.P3296K Missense 68/79 - 1
X-31200941-GG-TT c.9887_9888delinsAA p.P3296Q Missense 68/79 - 1
X-31200941-G-T c.9888C>A p.P3296= Synonymous 68/79 - 1
X-31200942-G-A c.9887C>T p.P3296L Missense 68/79 - 1
X-31200942-G-C c.9887C>G p.P3296R Missense 68/79 - 1
X-31200942-GG-AA c.9886_9887delinsTT p.P3296F Missense 68/79 - 1
X-31200942-GG-AC c.9886_9887delinsGT p.P3296V Missense 68/79 - 1
X-31200942-GG-AT c.9886_9887delinsAT p.P3296I Missense 68/79 - 1
X-31200942-GG-CA c.9886_9887delinsTG p.P3296C Missense 68/79 - 1
X-31200942-GG-CC c.9886_9887inv p.P3296G Missense 68/79 - 1
X-31200942-GG-TA c.9886_9887delinsTA p.P3296Y Missense 68/79 - 1
X-31200942-GG-TC c.9886_9887delinsGA p.P3296D Missense 68/79 - 1
X-31200942-GG-TT c.9886_9887delinsAA p.P3296N Missense 68/79 - 1
X-31200942-G-T c.9887C>A p.P3296H Missense 68/79 - 1
X-31200943-G-A c.9886C>T p.P3296S Missense 68/79 - 1
X-31200943-G-C c.9886C>G p.P3296A Missense 68/79 - 1
X-31200943-G-T c.9886C>A p.P3296T Missense 68/79 - 1
X-31200944-CA-AT c.9884_9885delinsAT p.L3295H Missense 68/79 - 1
X-31200944-CAG-AAA c.9883_9885delinsTTT p.L3295F Missense 68/79 - 1
X-31200944-CAG-ACA c.9883_9885delinsTGT p.L3295C Missense 68/79 - 1
X-31200944-CAG-ATA c.9883_9885delinsTAT p.L3295Y Missense 68/79 - 1
X-31200944-CAG-GAT c.9883_9885delinsATC p.L3295I Missense 68/79 - 1
X-31200944-CAG-GTC c.9883_9885delinsGAC p.L3295D Missense 68/79 - 1
X-31200944-CAG-GTT c.9883_9885delinsAAC p.L3295N Missense 68/79 - 1
X-31200944-GC-G c.9885del p.V3297Sfs*33 Frameshift 68/79 - 1
X-31200945-A-C c.9884T>G p.L3295R Missense 68/79 - 1
X-31200945-A-G c.9884T>C p.L3295P Missense 68/79 - 1
X-31200945-AG-CA c.9883_9884delinsTG p.L3295W Missense 68/79 - 1
X-31200945-AG-CC c.9883_9884delinsGG p.L3295G Missense 68/79 - 1
X-31200945-AG-GA c.9883_9884delinsTC p.L3295S Missense 68/79 - 1
X-31200945-AG-GC c.9883_9884delinsGC p.L3295A Missense 68/79 - 1
X-31200945-AG-GT c.9883_9884delinsAC p.L3295T Missense 68/79 - 1
X-31200945-AG-TC c.9883_9884delinsGA p.L3295E Missense 68/79 - 1
X-31200945-AG-TT c.9883_9884delinsAA p.L3295K Missense 68/79 - 1
X-31200945-A-T c.9884T>A p.L3295Q Missense 68/79 - 1
X-31200945-CAGCCACACCATGGACTGGGGTT-C c.9863_9884del p.E3288Gfs*35 Frameshift 68/79 - 1
X-31200946-G-C c.9883C>G p.L3295V Missense 68/79 - 1
X-31200946-G-T c.9883C>A p.L3295M Missense 68/79 - 1
X-31200947-C-A c.9882G>T p.W3294C Missense 68/79 - 1
X-31200947-CC-AA c.9881_9882delinsTT p.W3294F Missense 68/79 - 1
X-31200947-CCA-ATG c.9880_9882delinsCAT p.W3294H Missense 68/79 - 1
X-31200947-CCA-GAT c.9880_9882delinsATC p.W3294I Missense 68/79 - 1
X-31200947-CCA-GTC c.9880_9882delinsGAC p.W3294D Missense 68/79 - 1
X-31200947-CCA-GTT c.9880_9882delinsAAC p.W3294N Missense 68/79 - 1
X-31200947-CC-AT c.9881_9882delinsAT p.W3294Y Missense 68/79 - 1
X-31200947-C-G c.9882G>C p.W3294C Missense 68/79 - 1
X-31200948-C-A c.9881G>T p.W3294L Missense 68/79 - 1
X-31200948-CA-AC c.9880_9881delinsGT p.W3294V Missense 68/79 - 1
X-31200948-CA-AT c.9880_9881delinsAT p.W3294M Missense 68/79 - 1
X-31200948-CA-GC c.9880_9881delinsGC p.W3294A Missense 68/79 - 1
X-31200948-CA-GG c.9880_9881delinsCC p.W3294P Missense 68/79 - 1
X-31200948-CA-GT c.9880_9881delinsAC p.W3294T Missense 68/79 - 1
X-31200948-CA-TC c.9880_9881delinsGA p.W3294E Missense 68/79 - 1
X-31200948-CA-TG c.9880_9881inv p.W3294Q Missense 68/79 - 1
X-31200948-CA-TT c.9880_9881delinsAA p.W3294K Missense 68/79 - 1
X-31200948-C-G c.9881G>C p.W3294S Missense 68/79 - 1
X-31200949-A-C c.9880T>G p.W3294G Missense 68/79 - 1
X-31200949-A-G c.9880T>C p.W3294R Missense 68/79 - 1
X-31200949-A-T c.9880T>A p.W3294R Missense 68/79 - 1
X-31200950-CAC-AAA c.9877_9879delinsTTT p.V3293F Missense 68/79 - 1
X-31200950-CAC-ACA c.9877_9879delinsTGT p.V3293C Missense 68/79 - 1
X-31200950-CAC-ATA c.9877_9879delinsTAT p.V3293Y Missense 68/79 - 1
X-31200950-CAC-ATG c.9877_9879delinsCAT p.V3293H Missense 68/79 - 1
X-31200950-CAC-GAT c.9877_9879delinsATC p.V3293I Missense 68/79 - 2
X-31200950-CAC-GTT c.9877_9879delinsAAC p.V3293N Missense 68/79 - 1
X-31200950-CA-GT c.9878_9879delinsAC p.V3293D Missense 68/79 - 1
X-31200951-A-C c.9878T>G p.V3293G Missense 68/79 - 1
X-31200951-AC-CA c.9877_9878delinsTG p.V3293W Missense 68/79 - 1
X-31200951-AC-CT c.9877_9878delinsAG p.V3293R Missense 68/79 - 1
X-31200951-AC-GA c.9877_9878delinsTC p.V3293S Missense 68/79 - 1
X-31200951-AC-GG c.9877_9878delinsCC p.V3293P Missense 68/79 - 1
X-31200951-AC-GT c.9877_9878inv p.V3293T Missense 68/79 - 1
X-31200951-AC-TG c.9877_9878delinsCA p.V3293Q Missense 68/79 - 1
X-31200951-AC-TT c.9877_9878delinsAA p.V3293K Missense 68/79 - 1
X-31200951-A-G c.9878T>C p.V3293A Missense 68/79 - 1
X-31200951-A-T c.9878T>A p.V3293E Missense 68/79 - 1
X-31200952-C-A c.9877G>T p.V3293L Missense 68/79 - 1
X-31200952-C-G c.9877G>C p.V3293L Missense 68/79 - 1
X-31200952-C-T c.9877G>A p.V3293M Missense 68/79 - 2
X-31200951-AC-A c.9877del p.V3293Cfs*37 Frameshift 68/79 - 1
X-31200953-C-A c.9876G>T p.M3292I Missense 68/79 - 1
X-31200953-CA-GC c.9875_9876delinsGC p.M3292S Missense 68/79 - 1
X-31200953-CA-GT c.9875_9876delinsAC p.M3292N Missense 68/79 - 1
X-31200953-CAT-AAA c.9874_9876delinsTTT p.M3292F Missense 68/79 - 1
X-31200953-CAT-ACA c.9874_9876delinsTGT p.M3292C Missense 68/79 - 1
X-31200953-CAT-ATA c.9874_9876delinsTAT p.M3292Y Missense 68/79 - 1
X-31200953-CAT-ATG c.9874_9876inv p.M3292H Missense 68/79 - 1
X-31200953-CAT-GTC c.9874_9876delinsGAC p.M3292D Missense 68/79 - 1
X-31200953-C-G c.9876G>C p.M3292I Missense 68/79 - 1
X-31200953-C-T c.9876G>A p.M3292I Missense 68/79 - 1
X-31200954-A-C c.9875T>G p.M3292R Missense 68/79 - 1
X-31200954-A-G c.9875T>C p.M3292T Missense 68/79 - 1
X-31200954-A-T c.9875T>A p.M3292K Missense 68/79 - 1
X-31200954-AT-CA c.9874_9875delinsTG p.M3292W Missense 68/79 - 1
X-31200954-AT-CC c.9874_9875delinsGG p.M3292G Missense 68/79 - 1
X-31200954-AT-GC c.9874_9875delinsGC p.M3292A Missense 68/79 - 1
X-31200954-AT-GG c.9874_9875delinsCC p.M3292P Missense 68/79 - 1
X-31200954-AT-TC c.9874_9875delinsGA p.M3292E Missense 68/79 - 1
X-31200954-AT-TG c.9874_9875delinsCA p.M3292Q Missense 68/79 - 1
X-31200955-T-A c.9874A>T p.M3292L Missense 68/79 - 1
X-31200955-T-C c.9874A>G p.M3292V Missense 68/79 - 1
X-31200955-T-G c.9874A>C p.M3292L Missense 68/79 - 1
X-31200956-GGA-CAT c.9871_9873delinsATG p.S3291M Missense 68/79 - 1
X-31200956-GGA-CTC c.9871_9873delinsGAG p.S3291E Missense 68/79 - 1
X-31200956-GGA-CTT c.9871_9873delinsAAG p.S3291K Missense 68/79 - 1
X-31200956-GGA-TTG c.9871_9873delinsCAA p.S3291Q Missense 68/79 - 1
X-31200956-GG-CC c.9872_9873inv p.S3291W Missense 68/79 - 1
X-31200957-G-A c.9872C>T p.S3291F Missense 68/79 - 2
X-31200957-GA-AC c.9871_9872delinsGT p.S3291V Missense 68/79 - 1
X-31200957-GA-AG c.9871_9872delinsCT p.S3291L Missense 68/79 - 1
X-31200957-GA-AT c.9871_9872delinsAT p.S3291I Missense 68/79 - 1
X-31200957-GA-CC c.9871_9872delinsGG p.S3291G Missense 68/79 - 1
X-31200957-GA-CG c.9871_9872delinsCG p.S3291R Missense 68/79 - 1
X-31200957-GA-TC c.9871_9872inv p.S3291D Missense 68/79 - 1
X-31200957-GA-TG c.9871_9872delinsCA p.S3291H Missense 68/79 - 1
X-31200957-GA-TT c.9871_9872delinsAA p.S3291N Missense 68/79 - 1
X-31200957-G-C c.9872C>G p.S3291C Missense 68/79 - 1
X-31200957-G-T c.9872C>A p.S3291Y Missense 68/79 - 1
X-31200958-A-C c.9871T>G p.S3291A Missense 68/79 - 1
X-31200958-A-G c.9871T>C p.S3291P Missense 68/79 - 1
X-31200958-A-T c.9871T>A p.S3291T Missense 68/79 - 1
X-31200959-C-A c.9870G>T p.Q3290H Missense 68/79 - 1
X-31200959-C-G c.9870G>C p.Q3290H Missense 68/79 - 2
X-31200959-CTG-AAA c.9868_9870delinsTTT p.Q3290F Missense 68/79 - 1
X-31200959-CTG-ACA c.9868_9870delinsTGT p.Q3290C Missense 68/79 - 1
X-31200959-CTG-ATA c.9868_9870delinsTAT p.Q3290Y Missense 68/79 - 1
X-31200959-CTG-GAT c.9868_9870delinsATC p.Q3290I Missense 68/79 - 1
X-31200959-CTG-GTC c.9868_9870delinsGAC p.Q3290D Missense 68/79 - 1
X-31200959-CTG-GTT c.9868_9870delinsAAC p.Q3290N Missense 68/79 - 1
X-31200960-T-A c.9869A>T p.Q3290L Missense 68/79 - 1
X-31200960-T-C c.9869A>G p.Q3290R Missense 68/79 - 2
X-31200960-T-G c.9869A>C p.Q3290P Missense 68/79 - 1
X-31200960-TG-AC c.9868_9869delinsGT p.Q3290V Missense 68/79 - 1
X-31200960-TG-AT c.9868_9869delinsAT p.Q3290M Missense 68/79 - 1
X-31200960-TG-CA c.9868_9869inv p.Q3290W Missense 68/79 - 1
X-31200960-TG-CC c.9868_9869delinsGG p.Q3290G Missense 68/79 - 1
X-31200960-TG-GA c.9868_9869delinsTC p.Q3290S Missense 68/79 - 1
X-31200960-TG-GC c.9868_9869delinsGC p.Q3290A Missense 68/79 - 1
X-31200960-TG-GT c.9868_9869delinsAC p.Q3290T Missense 68/79 - 1
X-31200961-G-C c.9868C>G p.Q3290E Missense 68/79 - 1
X-31200961-G-T c.9868C>A p.Q3290K Missense 68/79 - 1
X-31200962-GGG-CAT c.9865_9867delinsATG p.P3289M Missense 68/79 - 1
X-31200962-GGG-CCA c.9865_9867delinsTGG p.P3289W Missense 68/79 - 1
X-31200962-GGG-CTC c.9865_9867delinsGAG p.P3289E Missense 68/79 - 1
X-31200962-GGG-CTT c.9865_9867delinsAAG p.P3289K Missense 68/79 - 1
X-31200962-GG-TT c.9866_9867delinsAA p.P3289Q Missense 68/79 - 1
X-31200963-G-A c.9866C>T p.P3289L Missense 68/79 - 1
X-31200963-G-C c.9866C>G p.P3289R Missense 68/79 - 1
X-31200963-GG-AA c.9865_9866delinsTT p.P3289F Missense 68/79 - 1
X-31200963-GG-AC c.9865_9866delinsGT p.P3289V Missense 68/79 - 1
X-31200963-GG-AT c.9865_9866delinsAT p.P3289I Missense 68/79 - 1
X-31200963-GG-CA c.9865_9866delinsTG p.P3289C Missense 68/79 - 1
X-31200963-GG-CC c.9865_9866inv p.P3289G Missense 68/79 - 1
X-31200963-GGGTTCCAGTC-G c.9857_9866del p.R3286Tfs*41 Frameshift 68/79 - 1
X-31200963-GG-TA c.9865_9866delinsTA p.P3289Y Missense 68/79 - 1
X-31200963-GG-TC c.9865_9866delinsGA p.P3289D Missense 68/79 - 1
X-31200963-GG-TT c.9865_9866delinsAA p.P3289N Missense 68/79 - 1
X-31200963-G-T c.9866C>A p.P3289H Missense 68/79 - 1
X-31200964-G-A c.9865C>T p.P3289S Missense 68/79 - 1
X-31200964-G-C c.9865C>G p.P3289A Missense 68/79 - 1
X-31200964-G-T c.9865C>A p.P3289T Missense 68/79 - 1
X-31200965-T-A c.9864A>T p.E3288D Missense 68/79 - 1
X-31200965-T-G c.9864A>C p.E3288D Missense 68/79 - 1
X-31200965-TTC-AAA c.9862_9864delinsTTT p.E3288F Missense 68/79 - 1
X-31200965-TTC-ACA c.9862_9864delinsTGT p.E3288C Missense 68/79 - 1
X-31200965-TTC-ATA c.9862_9864delinsTAT p.E3288Y Missense 68/79 - 1
X-31200965-TTC-ATG c.9862_9864delinsCAT p.E3288H Missense 68/79 - 1
X-31200965-TTC-CAT c.9862_9864delinsATG p.E3288M Missense 68/79 - 1
X-31200965-TTC-CCA c.9862_9864delinsTGG p.E3288W Missense 68/79 - 1
X-31200965-TTC-GTT c.9862_9864delinsAAC p.E3288N Missense 68/79 - 1
X-31200966-T-A c.9863A>T p.E3288V Missense 68/79 - 1
X-31200966-T-C c.9863A>G p.E3288G Missense 68/79 - 1
X-31200966-TC-AG c.9862_9863delinsCT p.E3288L Missense 68/79 - 1
X-31200966-TC-AT c.9862_9863delinsAT p.E3288I Missense 68/79 - 1
X-31200966-TC-CT c.9862_9863delinsAG p.E3288R Missense 68/79 - 1
X-31200966-TC-GA c.9862_9863inv p.E3288S Missense 68/79 - 1
X-31200966-TC-GG c.9862_9863delinsCC p.E3288P Missense 68/79 - 1
X-31200966-TC-GT c.9862_9863delinsAC p.E3288T Missense 68/79 - 1
X-31200966-T-G c.9863A>C p.E3288A Missense 68/79 - 1
X-31200967-C-G c.9862G>C p.E3288Q Missense 68/79 - 1
X-31200967-C-T c.9862G>A p.E3288K Missense 68/79 - 1
X-31200966-TC-T c.9862del p.E3288Nfs*42 Frameshift 68/79 - 1
X-31200968-CA-AT c.9860_9861delinsAT p.L3287H Missense 68/79 - 1
X-31200968-CAG-AAA c.9859_9861delinsTTT p.L3287F Missense 68/79 - 1
X-31200968-CAG-ACA c.9859_9861delinsTGT p.L3287C Missense 68/79 - 1
X-31200968-CAG-ATA c.9859_9861delinsTAT p.L3287Y Missense 68/79 - 1
X-31200968-CAG-GAT c.9859_9861delinsATC p.L3287I Missense 68/79 - 1
X-31200968-CAG-GTC c.9859_9861delinsGAC p.L3287D Missense 68/79 - 1
X-31200968-CAG-GTT c.9859_9861delinsAAC p.L3287N Missense 68/79 - 1
X-31200969-A-C c.9860T>G p.L3287R Missense 68/79 - 1
X-31200969-A-G c.9860T>C p.L3287P Missense 68/79 - 1
X-31200969-AG-CA c.9859_9860delinsTG p.L3287W Missense 68/79 - 1
X-31200969-AG-CC c.9859_9860delinsGG p.L3287G Missense 68/79 - 1
X-31200969-AG-GA c.9859_9860delinsTC p.L3287S Missense 68/79 - 1
X-31200969-AG-GC c.9859_9860delinsGC p.L3287A Missense 68/79 - 1
X-31200969-AG-GT c.9859_9860delinsAC p.L3287T Missense 68/79 - 1
X-31200969-AG-TC c.9859_9860delinsGA p.L3287E Missense 68/79 - 1
X-31200969-AG-TT c.9859_9860delinsAA p.L3287K Missense 68/79 - 1
X-31200969-A-T c.9860T>A p.L3287Q Missense 68/79 - 1
X-31200970-G-C c.9859C>G p.L3287V Missense 68/79 - 1
X-31200970-G-T c.9859C>A p.L3287M Missense 68/79 - 1
X-31200971-T-A c.9858A>T p.R3286S Missense 68/79 - 1
X-31200971-TC-CA c.9857_9858delinsTG p.R3286M Missense 68/79 - 1
X-31200971-TC-GT c.9857_9858delinsAC p.R3286N Missense 68/79 - 1
X-31200971-TCT-AAA c.9856_9858delinsTTT p.R3286F Missense 68/79 - 1
X-31200971-TCT-ACA c.9856_9858delinsTGT p.R3286C Missense 68/79 - 2
X-31200971-TCT-ATA c.9856_9858delinsTAT p.R3286Y Missense 68/79 - 1
X-31200971-TCT-ATG c.9856_9858delinsCAT p.R3286H Missense 68/79 - 1
X-31200971-TCT-CCA c.9856_9858delinsTGG p.R3286W Missense 68/79 - 1
X-31200971-TCT-GTC c.9856_9858delinsGAC p.R3286D Missense 68/79 - 1
X-31200971-T-G c.9858A>C p.R3286S Missense 68/79 - 1
X-31200972-C-A c.9857G>T p.R3286I Missense 68/79 - 1
X-31200972-C-G c.9857G>C p.R3286T Missense 68/79 - 2
X-31200972-C-T c.9857G>A p.R3286K Missense 68/79 - 6
X-31200972-CT-AC c.9856_9857delinsGT p.R3286V Missense 68/79 - 1
X-31200972-CT-AG c.9856_9857inv p.R3286L Missense 68/79 - 1
X-31200972-CT-GC c.9856_9857delinsGC p.R3286A Missense 68/79 - 1
X-31200972-CT-GG c.9856_9857delinsCC p.R3286P Missense 68/79 - 1
X-31200972-CT-TC c.9856_9857delinsGA p.R3286E Missense 68/79 - 1
X-31200972-CT-TG c.9856_9857delinsCA p.R3286Q Missense 68/79 - 1
X-31200973-T-C c.9856A>G p.R3286G Missense 68/79 - 1
X-31200974-C-A c.9855G>T p.M3285I Missense 68/79 - 1
X-31200974-CA-GC c.9854_9855delinsGC p.M3285S Missense 68/79 - 1
X-31200974-CA-GT c.9854_9855delinsAC p.M3285N Missense 68/79 - 1
X-31200974-CAT-AAA c.9853_9855delinsTTT p.M3285F Missense 68/79 - 1
X-31200974-CAT-ACA c.9853_9855delinsTGT p.M3285C Missense 68/79 - 1
X-31200974-CAT-ATA c.9853_9855delinsTAT p.M3285Y Missense 68/79 - 1
X-31200974-CAT-ATG c.9853_9855inv p.M3285H Missense 68/79 - 1
X-31200974-CAT-GTC c.9853_9855delinsGAC p.M3285D Missense 68/79 - 1
X-31200974-C-G c.9855G>C p.M3285I Missense 68/79 - 1
X-31200974-C-T c.9855G>A p.M3285I Missense 68/79 - 1
X-31200975-A-C c.9854T>G p.M3285R Missense 68/79 - 1
X-31200975-A-G c.9854T>C p.M3285T Missense 68/79 - 1
X-31200975-A-T c.9854T>A p.M3285K Missense 68/79 - 1
X-31200975-AT-CA c.9853_9854delinsTG p.M3285W Missense 68/79 - 1
X-31200975-AT-CC c.9853_9854delinsGG p.M3285G Missense 68/79 - 1
X-31200975-AT-GC c.9853_9854delinsGC p.M3285A Missense 68/79 - 1
X-31200975-AT-GG c.9853_9854delinsCC p.M3285P Missense 68/79 - 1
X-31200975-AT-TC c.9853_9854delinsGA p.M3285E Missense 68/79 - 1
X-31200975-AT-TG c.9853_9854delinsCA p.M3285Q Missense 68/79 - 1
X-31200976-T-A c.9853A>T p.M3285L Missense 68/79 - 1
X-31200976-T-C c.9853A>G p.M3285V Missense 68/79 - 1
X-31200976-T-G c.9853A>C p.M3285L Missense 68/79 - 1
X-31200977-C-A c.9852G>T p.W3284C Missense 68/79 - 1
X-31200977-CC-AA c.9851_9852delinsTT p.W3284F Missense 68/79 - 1
X-31200977-CCA-ATG c.9850_9852delinsCAT p.W3284H Missense 68/79 - 1
X-31200977-CCA-GAT c.9850_9852delinsATC p.W3284I Missense 68/79 - 1
X-31200977-CCA-GTC c.9850_9852delinsGAC p.W3284D Missense 68/79 - 1
X-31200977-CCA-GTT c.9850_9852delinsAAC p.W3284N Missense 68/79 - 1
X-31200977-CC-AT c.9851_9852delinsAT p.W3284Y Missense 68/79 - 1
X-31200977-C-G c.9852G>C p.W3284C Missense 68/79 - 1
X-31200977-C-T c.9852G>A p.W3284* Nonsense 68/79 - 1
X-31200978-C-A c.9851G>T p.W3284L Missense 68/79 - 1
X-31200978-CA-AC c.9850_9851delinsGT p.W3284V Missense 68/79 - 1
X-31200978-CA-AT c.9850_9851delinsAT p.W3284M Missense 68/79 - 1
X-31200978-CA-GC c.9850_9851delinsGC p.W3284A Missense 68/79 - 1
X-31200978-CA-GG c.9850_9851delinsCC p.W3284P Missense 68/79 - 1
X-31200978-CA-GT c.9850_9851delinsAC p.W3284T Missense 68/79 - 1
X-31200978-CA-TC c.9850_9851delinsGA p.W3284E Missense 68/79 - 1
X-31200978-CA-TG c.9850_9851inv p.W3284Q Missense 68/79 - 1
X-31200978-CA-TT c.9850_9851delinsAA p.W3284K Missense 68/79 - 1
X-31200978-C-G c.9851G>C p.W3284S Missense 68/79 - 1
X-31200978-C-T c.9851G>A p.W3284* Nonsense 68/79 - 5
X-31200979-A-C c.9850T>G p.W3284G Missense 68/79 - 1
X-31200979-A-G c.9850T>C p.W3284R Missense 68/79 - 1
X-31200979-A-T c.9850T>A p.W3284R Missense 68/79 - 1
X-31200980-G-C c.9849C>G p.D3283E Missense 68/79 - 1
X-31200980-G-T c.9849C>A p.D3283E Missense 68/79 - 1
X-31200980-GTC-CAT c.9847_9849delinsATG p.D3283M Missense 68/79 - 1
X-31200980-GTC-CCA c.9847_9849delinsTGG p.D3283W Missense 68/79 - 1
X-31200980-GTC-CTT c.9847_9849delinsAAG p.D3283K Missense 68/79 - 1
X-31200980-GTC-TTG c.9847_9849delinsCAA p.D3283Q Missense 68/79 - 1
X-31200981-T-A c.9848A>T p.D3283V Missense 68/79 - 1
X-31200981-T-C c.9848A>G p.D3283G Missense 68/79 - 1
X-31200981-TC-AA c.9847_9848delinsTT p.D3283F Missense 68/79 - 1
X-31200981-TC-AG c.9847_9848delinsCT p.D3283L Missense 68/79 - 1
X-31200981-TC-AT c.9847_9848delinsAT p.D3283I Missense 68/79 - 1
X-31200981-TC-CA c.9847_9848delinsTG p.D3283C Missense 68/79 - 1
X-31200981-TC-CG c.9847_9848delinsCG p.D3283R Missense 68/79 - 1
X-31200981-TC-CT c.9847_9848delinsAG p.D3283S Missense 68/79 - 1
X-31200981-TC-GG c.9847_9848delinsCC p.D3283P Missense 68/79 - 1
X-31200981-TC-GT c.9847_9848delinsAC p.D3283T Missense 68/79 - 1
X-31200981-T-G c.9848A>C p.D3283A Missense 68/79 - 1
X-31200982-C-A c.9847G>T p.D3283Y Missense 68/79 - 1
X-31200982-C-G c.9847G>C p.D3283H Missense 68/79 - 1
X-31200982-C-T c.9847G>A p.D3283N Missense 68/79 - 1
X-31200983-TA-AT c.9845_9846delinsAT p.L3282H Missense 68/79 - 1
X-31200983-TAG-AAA c.9844_9846delinsTTT p.L3282F Missense 68/79 - 1
X-31200983-TAG-ACA c.9844_9846delinsTGT p.L3282C Missense 68/79 - 1
X-31200983-TAG-ATA c.9844_9846delinsTAT p.L3282Y Missense 68/79 - 1
X-31200983-TAG-CAT c.9844_9846delinsATG p.L3282M Missense 68/79 - 1
X-31200983-TAG-CCA c.9844_9846delinsTGG p.L3282W Missense 68/79 - 1
X-31200983-TAG-GTC c.9844_9846delinsGAC p.L3282D Missense 68/79 - 1
X-31200983-TAG-GTT c.9844_9846delinsAAC p.L3282N Missense 68/79 - 1
X-31200984-A-C c.9845T>G p.L3282R Missense 68/79 - 1
X-31200984-A-G c.9845T>C p.L3282P Missense 68/79 - 1
X-31200984-AG-CC c.9844_9845delinsGG p.L3282G Missense 68/79 - 1
X-31200984-AG-GA c.9844_9845delinsTC p.L3282S Missense 68/79 - 1
X-31200984-AG-GC c.9844_9845delinsGC p.L3282A Missense 68/79 - 1
X-31200984-AG-GT c.9844_9845delinsAC p.L3282T Missense 68/79 - 1
X-31200984-AG-TC c.9844_9845delinsGA p.L3282E Missense 68/79 - 1
X-31200984-AG-TT c.9844_9845delinsAA p.L3282K Missense 68/79 - 1
X-31200984-A-T c.9845T>A p.L3282Q Missense 68/79 - 1
X-31200985-G-C c.9844C>G p.L3282V Missense 68/79 - 1
X-31200985-G-T c.9844C>A p.L3282I Missense 68/79 - 1
X-31200984-AG-A c.9844del p.L3282* Frameshift 68/79 - 1
X-31200986-GAA-CAT c.9841_9843delinsATG p.F3281M Missense 68/79 - 1
X-31200986-GAA-CTC c.9841_9843delinsGAG p.F3281E Missense 68/79 - 1
X-31200986-GAA-CTT c.9841_9843delinsAAG p.F3281K Missense 68/79 - 1
X-31200986-GAA-TTG c.9841_9843delinsCAA p.F3281Q Missense 68/79 - 1
X-31200986-GA-CC c.9842_9843delinsGG p.F3281W Missense 68/79 - 1
X-31200987-AA-CC c.9841_9842delinsGG p.F3281G Missense 68/79 - 1
X-31200987-AA-CG c.9841_9842delinsCG p.F3281R Missense 68/79 - 1
X-31200987-AA-GC c.9841_9842delinsGC p.F3281A Missense 68/79 - 1
X-31200987-AA-GG c.9841_9842delinsCC p.F3281P Missense 68/79 - 1
X-31200987-AA-GT c.9841_9842delinsAC p.F3281T Missense 68/79 - 1
X-31200987-AA-TC c.9841_9842delinsGA p.F3281D Missense 68/79 - 1
X-31200987-AA-TG c.9841_9842delinsCA p.F3281H Missense 68/79 - 1
X-31200987-AA-TT c.9841_9842inv p.F3281N Missense 68/79 - 1
X-31200987-A-C c.9842T>G p.F3281C Missense 68/79 - 1
X-31200987-A-G c.9842T>C p.F3281S Missense 68/79 - 1
X-31200987-A-T c.9842T>A p.F3281Y Missense 68/79 - 1
X-31200986-G-C c.9843C>G p.F3281L Missense 68/79 - 2
X-31200986-G-T c.9843C>A p.F3281L Missense 68/79 - 2
X-31200988-A-C c.9841T>G p.F3281V Missense 68/79 - 1
X-31200988-A-G c.9841T>C p.F3281L Missense 68/79 - 2
X-31200988-A-T c.9841T>A p.F3281I Missense 68/79 - 1
X-31200989-GAG-CAT c.9838_9840delinsATG p.L3280M Missense 68/79 - 1
X-31200989-GAG-CCA c.9838_9840delinsTGG p.L3280W Missense 68/79 - 1
X-31200989-GAG-CTC c.9838_9840inv p.L3280E Missense 68/79 - 1
X-31200989-GAG-CTT c.9838_9840delinsAAG p.L3280K Missense 68/79 - 1
X-31200989-GA-TT c.9839_9840delinsAA p.L3280Q Missense 68/79 - 1
X-31200990-A-C c.9839T>G p.L3280R Missense 68/79 - 1
X-31200990-A-G c.9839T>C p.L3280P Missense 68/79 - 1
X-31200990-AG-CA c.9838_9839delinsTG p.L3280C Missense 68/79 - 1
X-31200990-AG-CC c.9838_9839delinsGG p.L3280G Missense 68/79 - 1
X-31200990-AG-CT c.9838_9839inv p.L3280S Missense 68/79 - 1
X-31200990-AG-GC c.9838_9839delinsGC p.L3280A Missense 68/79 - 1
X-31200990-AG-GT c.9838_9839delinsAC p.L3280T Missense 68/79 - 1
X-31200990-AG-TA c.9838_9839delinsTA p.L3280Y Missense 68/79 - 1
X-31200990-AG-TC c.9838_9839delinsGA p.L3280D Missense 68/79 - 1
X-31200990-AG-TT c.9838_9839delinsAA p.L3280N Missense 68/79 - 1
X-31200990-A-T c.9839T>A p.L3280H Missense 68/79 - 1
X-31200990-GAGGGCCGCTT-G c.9830_9839del p.E3277Afs*3 Frameshift 68/79 - 1
X-31200991-G-A c.9838C>T p.L3280F Missense 68/79 - 1
X-31200991-G-C c.9838C>G p.L3280V Missense 68/79 - 1
X-31200991-G-T c.9838C>A p.L3280I Missense 68/79 - 1
X-31200992-G-A c.9837C>T p.A3279= Synonymous 68/79 - 1
X-31200992-GGC-CAT c.9835_9837delinsATG p.A3279M Missense 68/79 - 1
X-31200992-GGC-CCA c.9835_9837delinsTGG p.A3279W Missense 68/79 - 1
X-31200992-GGC-CTT c.9835_9837delinsAAG p.A3279K Missense 68/79 - 1
X-31200992-GG-CT c.9836_9837delinsAG p.A3279E Missense 68/79 - 1
X-31200992-GGC-TTG c.9835_9837delinsCAA p.A3279Q Missense 68/79 - 1
X-31200993-G-A c.9836C>T p.A3279V Missense 68/79 - 1
X-31200993-G-C c.9836C>G p.A3279G Missense 68/79 - 1
X-31200993-GC-AA c.9835_9836delinsTT p.A3279F Missense 68/79 - 1
X-31200993-GC-AG c.9835_9836delinsCT p.A3279L Missense 68/79 - 1
X-31200993-GC-AT c.9835_9836delinsAT p.A3279I Missense 68/79 - 1
X-31200993-GC-CA c.9835_9836delinsTG p.A3279C Missense 68/79 - 1
X-31200993-GC-CG c.9835_9836delinsCG p.A3279R Missense 68/79 - 1
X-31200993-GC-TA c.9835_9836delinsTA p.A3279Y Missense 68/79 - 1
X-31200993-GC-TG c.9835_9836delinsCA p.A3279H Missense 68/79 - 1
X-31200993-GC-TT c.9835_9836delinsAA p.A3279N Missense 68/79 - 1
X-31200993-G-T c.9836C>A p.A3279D Missense 68/79 - 1
X-31200994-C-A c.9835G>T p.A3279S Missense 68/79 - 1
X-31200994-C-G c.9835G>C p.A3279P Missense 68/79 - 1
X-31200994-C-T c.9835G>A p.A3279T Missense 68/79 - 1
X-31200995-CGC-AAA c.9832_9834delinsTTT p.A3278F Missense 68/79 - 1
X-31200995-CGC-ACA c.9832_9834delinsTGT p.A3278C Missense 68/79 - 1
X-31200995-CGC-ATA c.9832_9834delinsTAT p.A3278Y Missense 68/79 - 1
X-31200995-CGC-ATG c.9832_9834delinsCAT p.A3278H Missense 68/79 - 1
X-31200995-CGC-GAT c.9832_9834delinsATC p.A3278I Missense 68/79 - 1
X-31200995-CGC-GTT c.9832_9834delinsAAC p.A3278N Missense 68/79 - 1
X-31200995-CG-GT c.9833_9834delinsAC p.A3278D Missense 68/79 - 1
X-31200996-G-A c.9833C>T p.A3278V Missense 68/79 - 1
X-31200996-G-C c.9833C>G p.A3278G Missense 68/79 - 2
X-31200996-GC-AG c.9832_9833delinsCT p.A3278L Missense 68/79 - 1
X-31200996-GC-AT c.9832_9833delinsAT p.A3278M Missense 68/79 - 1
X-31200996-GC-CA c.9832_9833delinsTG p.A3278W Missense 68/79 - 1
X-31200996-GC-CT c.9832_9833delinsAG p.A3278R Missense 68/79 - 1
X-31200996-GC-TG c.9832_9833delinsCA p.A3278Q Missense 68/79 - 1
X-31200996-GC-TT c.9832_9833delinsAA p.A3278K Missense 68/79 - 1
X-31200996-G-T c.9833C>A p.A3278E Missense 68/79 - 1
X-31200997-C-A c.9832G>T p.A3278S Missense 68/79 - 1
X-31200997-C-G c.9832G>C p.A3278P Missense 68/79 - 1
X-31200997-C-T c.9832G>A p.A3278T Missense 68/79 - 1
X-31200998-T-A c.9831A>T p.E3277D Missense 68/79 - 1
X-31200998-T-G c.9831A>C p.E3277D Missense 68/79 - 1
X-31200998-TTC-AAA c.9829_9831delinsTTT p.E3277F Missense 68/79 - 1
X-31200998-TTC-ACA c.9829_9831delinsTGT p.E3277C Missense 68/79 - 1
X-31200998-TTC-ATA c.9829_9831delinsTAT p.E3277Y Missense 68/79 - 1
X-31200998-TTC-ATG c.9829_9831delinsCAT p.E3277H Missense 68/79 - 1
X-31200998-TTC-CAT c.9829_9831delinsATG p.E3277M Missense 68/79 - 1
X-31200998-TTC-CCA c.9829_9831delinsTGG p.E3277W Missense 68/79 - 1
X-31200998-TTC-GTT c.9829_9831delinsAAC p.E3277N Missense 68/79 - 1
X-31200999-T-A c.9830A>T p.E3277V Missense 68/79 - 1
X-31200999-T-C c.9830A>G p.E3277G Missense 68/79 - 1
X-31200999-TC-AG c.9829_9830delinsCT p.E3277L Missense 68/79 - 1
X-31200999-TC-AT c.9829_9830delinsAT p.E3277I Missense 68/79 - 1
X-31200999-TC-CT c.9829_9830delinsAG p.E3277R Missense 68/79 - 1
X-31200999-TC-GA c.9829_9830inv p.E3277S Missense 68/79 - 1
X-31200999-TC-GG c.9829_9830delinsCC p.E3277P Missense 68/79 - 1
X-31200999-TC-GT c.9829_9830delinsAC p.E3277T Missense 68/79 - 1
X-31200999-T-G c.9830A>C p.E3277A Missense 68/79 - 1
X-31201000-C-A c.9829G>T p.E3277* Nonsense 68/79 - 1
X-31201000-C-G c.9829G>C p.E3277Q Missense 68/79 - 1
X-31201000-C-T c.9829G>A p.E3277K Missense 68/79 - 4
X-31201001-G-A c.9828C>T p.I3276= Synonymous 68/79 - 4
X-31201001-GA-CC c.9827_9828delinsGG p.I3276R Missense 68/79 - 1
X-31201001-GA-CT c.9827_9828delinsAG p.I3276K Missense 68/79 - 1
X-31201001-GAT-CCA c.9826_9828delinsTGG p.I3276W Missense 68/79 - 1
X-31201001-GAT-CTC c.9826_9828delinsGAG p.I3276E Missense 68/79 - 1
X-31201001-GAT-TTG c.9826_9828delinsCAA p.I3276Q Missense 68/79 - 1
X-31201001-G-C c.9828C>G p.I3276M Missense 68/79 - 1
X-31201001-G-T c.9828C>A p.I3276= Synonymous 68/79 - 1
X-31201002-A-C c.9827T>G p.I3276S Missense 68/79 - 1
X-31201002-A-G c.9827T>C p.I3276T Missense 68/79 - 1
X-31201002-A-T c.9827T>A p.I3276N Missense 68/79 - 1
X-31201002-AT-CA c.9826_9827delinsTG p.I3276C Missense 68/79 - 1
X-31201002-AT-CC c.9826_9827delinsGG p.I3276G Missense 68/79 - 1
X-31201002-AT-GC c.9826_9827delinsGC p.I3276A Missense 68/79 - 1
X-31201002-AT-GG c.9826_9827delinsCC p.I3276P Missense 68/79 - 1
X-31201002-AT-TA c.9826_9827delinsTA p.I3276Y Missense 68/79 - 1
X-31201002-AT-TC c.9826_9827delinsGA p.I3276D Missense 68/79 - 1
X-31201002-AT-TG c.9826_9827delinsCA p.I3276H Missense 68/79 - 1
X-31201003-T-A c.9826A>T p.I3276F Missense 68/79 - 1
X-31201003-T-C c.9826A>G p.I3276V Missense 68/79 - 1
X-31201003-T-G c.9826A>C p.I3276L Missense 68/79 - 1
X-31201004-C-A c.9825G>T p.E3275D Missense 68/79 - 1
X-31201004-C-G c.9825G>C p.E3275D Missense 68/79 - 1
X-31201004-CTC-AAA c.9823_9825delinsTTT p.E3275F Missense 68/79 - 1
X-31201004-CTC-ACA c.9823_9825delinsTGT p.E3275C Missense 68/79 - 1
X-31201004-CTC-ATA c.9823_9825delinsTAT p.E3275Y Missense 68/79 - 1
X-31201004-CTC-ATG c.9823_9825delinsCAT p.E3275H Missense 68/79 - 1
X-31201004-CTC-GAT c.9823_9825delinsATC p.E3275I Missense 68/79 - 1
X-31201004-CTC-GTT c.9823_9825delinsAAC p.E3275N Missense 68/79 - 1
X-31201005-T-A c.9824A>T p.E3275V Missense 68/79 - 1
X-31201005-T-C c.9824A>G p.E3275G Missense 68/79 - 1
X-31201005-TC-AG c.9823_9824delinsCT p.E3275L Missense 68/79 - 1
X-31201005-TC-AT c.9823_9824delinsAT p.E3275M Missense 68/79 - 1
X-31201005-TC-CA c.9823_9824delinsTG p.E3275W Missense 68/79 - 1
X-31201005-TC-CT c.9823_9824delinsAG p.E3275R Missense 68/79 - 1
X-31201005-TC-GA c.9823_9824inv p.E3275S Missense 68/79 - 1
X-31201005-TC-GG c.9823_9824delinsCC p.E3275P Missense 68/79 - 1
X-31201005-TC-GT c.9823_9824delinsAC p.E3275T Missense 68/79 - 1
X-31201005-T-G c.9824A>C p.E3275A Missense 68/79 - 1
X-31201006-C-G c.9823G>C p.E3275Q Missense 68/79 - 1
X-31201006-C-T c.9823G>A p.E3275K Missense 68/79 - 1
X-31201007-TG-AT c.9821_9822delinsAT p.P3274H Missense 68/79 - 1
X-31201007-TGG-AAA c.9820_9822delinsTTT p.P3274F Missense 68/79 - 1
X-31201007-TGG-ACA c.9820_9822delinsTGT p.P3274C Missense 68/79 - 1
X-31201007-TGG-ATA c.9820_9822delinsTAT p.P3274Y Missense 68/79 - 1
X-31201007-TGG-CAT c.9820_9822delinsATG p.P3274M Missense 68/79 - 1
X-31201007-TGG-CCA c.9820_9822inv p.P3274W Missense 68/79 - 1
X-31201007-TGG-GTC c.9820_9822delinsGAC p.P3274D Missense 68/79 - 1
X-31201007-TGG-GTT c.9820_9822delinsAAC p.P3274N Missense 68/79 - 1
X-31201008-G-A c.9821C>T p.P3274L Missense 68/79 - 1
X-31201008-G-C c.9821C>G p.P3274R Missense 68/79 - 1
X-31201008-GG-AC c.9820_9821delinsGT p.P3274V Missense 68/79 - 1
X-31201008-GG-AT c.9820_9821delinsAT p.P3274I Missense 68/79 - 1
X-31201008-GG-CC c.9820_9821inv p.P3274G Missense 68/79 - 1
X-31201008-GG-TC c.9820_9821delinsGA p.P3274E Missense 68/79 - 1
X-31201008-GG-TT c.9820_9821delinsAA p.P3274K Missense 68/79 - 1
X-31201008-G-T c.9821C>A p.P3274Q Missense 68/79 - 1
X-31201009-G-A c.9820C>T p.P3274S Missense 68/79 - 1
X-31201009-G-C c.9820C>G p.P3274A Missense 68/79 - 1
X-31201009-G-T c.9820C>A p.P3274T Missense 68/79 - 2
X-31201010-C-A c.9819G>T p.K3273N Missense 68/79 - 1
X-31201010-C-G c.9819G>C p.K3273N Missense 68/79 - 1
X-31201010-CT-GA c.9818_9819delinsTC p.K3273I Missense 68/79 - 1
X-31201010-CT-GC c.9818_9819delinsGC p.K3273S Missense 68/79 - 1
X-31201010-CTT-AAA c.9817_9819delinsTTT p.K3273F Missense 68/79 - 1
X-31201010-CTT-ACA c.9817_9819delinsTGT p.K3273C Missense 68/79 - 1
X-31201010-CTT-ATA c.9817_9819delinsTAT p.K3273Y Missense 68/79 - 1
X-31201010-CTT-ATG c.9817_9819delinsCAT p.K3273H Missense 68/79 - 1
X-31201010-CTT-GTC c.9817_9819delinsGAC p.K3273D Missense 68/79 - 1
X-31201011-T-A c.9818A>T p.K3273M Missense 68/79 - 1
X-31201011-T-C c.9818A>G p.K3273R Missense 68/79 - 1
X-31201011-T-G c.9818A>C p.K3273T Missense 68/79 - 1
X-31201011-TT-AC c.9817_9818delinsGT p.K3273V Missense 68/79 - 1
X-31201011-TT-AG c.9817_9818delinsCT p.K3273L Missense 68/79 - 1
X-31201011-TT-CA c.9817_9818delinsTG p.K3273W Missense 68/79 - 1
X-31201011-TT-CC c.9817_9818delinsGG p.K3273G Missense 68/79 - 1
X-31201011-TT-GC c.9817_9818delinsGC p.K3273A Missense 68/79 - 1
X-31201011-TT-GG c.9817_9818delinsCC p.K3273P Missense 68/79 - 1
X-31201012-T-C c.9817A>G p.K3273E Missense 68/79 - 1
X-31201012-T-G c.9817A>C p.K3273Q Missense 68/79 - 1
X-31201012-T-TA c.9816dup p.K3273* Nonsense 68/79 - 2
X-31201016-A-C c.9813T>G p.N3271K Missense 68/79 - 1
X-31201016-A-T c.9813T>A p.N3271K Missense 68/79 - 1
X-31201016-AT-CA c.9812_9813delinsTG p.N3271M Missense 68/79 - 1
X-31201016-AT-CC c.9812_9813delinsGG p.N3271R Missense 68/79 - 1
X-31201016-ATT-CCA c.9811_9813delinsTGG p.N3271W Missense 68/79 - 1
X-31201016-ATT-CTC c.9811_9813delinsGAG p.N3271E Missense 68/79 - 1
X-31201016-ATT-TTG c.9811_9813delinsCAA p.N3271Q Missense 68/79 - 1
X-31201017-T-A c.9812A>T p.N3271I Missense 68/79 - 1
X-31201017-T-C c.9812A>G p.N3271S Missense 68/79 - 1
X-31201017-T-G c.9812A>C p.N3271T Missense 68/79 - 1
X-31201017-TT-AA c.9811_9812inv p.N3271F Missense 68/79 - 1
X-31201017-TT-AC c.9811_9812delinsGT p.N3271V Missense 68/79 - 1
X-31201017-TT-AG c.9811_9812delinsCT p.N3271L Missense 68/79 - 1
X-31201017-TT-CA c.9811_9812delinsTG p.N3271C Missense 68/79 - 1
X-31201017-TT-CC c.9811_9812delinsGG p.N3271G Missense 68/79 - 1
X-31201017-TT-GC c.9811_9812delinsGC p.N3271A Missense 68/79 - 1
X-31201017-TT-GG c.9811_9812delinsCC p.N3271P Missense 68/79 - 1
X-31201018-T-A c.9811A>T p.N3271Y Missense 68/79 - 1
X-31201018-T-C c.9811A>G p.N3271D Missense 68/79 - 1
X-31201018-T-G c.9811A>C p.N3271H Missense 68/79 - 1
X-31201019-A-C c.9810T>G p.A3270= Synonymous 68/79 - 1
X-31201019-A-G c.9810T>C p.A3270= Synonymous 68/79 - 1
X-31201019-AGC-CAT c.9808_9810delinsATG p.A3270M Missense 68/79 - 1
X-31201019-AGC-CCA c.9808_9810delinsTGG p.A3270W Missense 68/79 - 1
X-31201019-AGC-CTT c.9808_9810delinsAAG p.A3270K Missense 68/79 - 1
X-31201019-AG-CT c.9809_9810inv p.A3270E Missense 68/79 - 1
X-31201019-AGC-TTG c.9808_9810delinsCAA p.A3270Q Missense 68/79 - 1
X-31201019-A-T c.9810T>A p.A3270= Synonymous 68/79 - 1
X-31201020-G-A c.9809C>T p.A3270V Missense 68/79 - 1
X-31201020-G-C c.9809C>G p.A3270G Missense 68/79 - 1
X-31201020-GC-AA c.9808_9809delinsTT p.A3270F Missense 68/79 - 1
X-31201020-GC-AG c.9808_9809delinsCT p.A3270L Missense 68/79 - 1
X-31201020-GC-AT c.9808_9809delinsAT p.A3270I Missense 68/79 - 1
X-31201020-GC-CA c.9808_9809delinsTG p.A3270C Missense 68/79 - 1
X-31201020-GC-CG c.9808_9809delinsCG p.A3270R Missense 68/79 - 1
X-31201020-GC-TA c.9808_9809delinsTA p.A3270Y Missense 68/79 - 1
X-31201020-GC-TG c.9808_9809delinsCA p.A3270H Missense 68/79 - 1
X-31201020-GC-TT c.9808_9809delinsAA p.A3270N Missense 68/79 - 1
X-31201020-G-T c.9809C>A p.A3270D Missense 68/79 - 1
X-31201021-C-A c.9808G>T p.A3270S Missense 68/79 - 1
X-31201021-C-G c.9808G>C p.A3270P Missense 68/79 - 3
X-31201021-C-T c.9808G>A p.A3270T Missense 68/79 - 1
X-31219364-G-A c.9807+2714C>T - IntronicSNV - 67/78 4
X-31221870-G-A c.9807+208C>T - IntronicSNV - 67/78 1
X-31222073-C-T c.9807+5G>A - IntronicSNV - 67/78 2
X-31222075-T-G c.9807+3A>C - IntronicSNV - 67/78 1
X-31222078-AAA-CAT c.9805_9807delinsATG p.F3269M Missense 67/79 - 1
X-31222078-AAA-CTC c.9805_9807delinsGAG p.F3269E Missense 67/79 - 1
X-31222078-AAA-CTT c.9805_9807delinsAAG p.F3269K Missense 67/79 - 1
X-31222078-AAA-TTG c.9805_9807delinsCAA p.F3269Q Missense 67/79 - 1
X-31222078-AA-CC c.9806_9807delinsGG p.F3269W Missense 67/79 - 1
X-31222079-AA-CC c.9805_9806delinsGG p.F3269G Missense 67/79 - 1
X-31222079-AA-CG c.9805_9806delinsCG p.F3269R Missense 67/79 - 1
X-31222079-AA-GC c.9805_9806delinsGC p.F3269A Missense 67/79 - 1
X-31222079-AA-GG c.9805_9806delinsCC p.F3269P Missense 67/79 - 1
X-31222079-AA-GT c.9805_9806delinsAC p.F3269T Missense 67/79 - 1
X-31222079-AA-TC c.9805_9806delinsGA p.F3269D Missense 67/79 - 1
X-31222079-AA-TG c.9805_9806delinsCA p.F3269H Missense 67/79 - 1
X-31222079-AA-TT c.9805_9806inv p.F3269N Missense 67/79 - 1
X-31222079-A-C c.9806T>G p.F3269C Missense 67/79 - 1
X-31222079-A-G c.9806T>C p.F3269S Missense 67/79 - 1
X-31222079-A-T c.9806T>A p.F3269Y Missense 67/79 - 1
X-31222078-A-C c.9807T>G p.F3269L Missense 67/79 - 1
X-31222078-A-T c.9807T>A p.F3269L Missense 67/79 - 1
X-31222080-A-C c.9805T>G p.F3269V Missense 67/79 - 1
X-31222080-A-G c.9805T>C p.F3269L Missense 67/79 - 1
X-31222080-A-T c.9805T>A p.F3269I Missense 67/79 - 1
X-31222081-T-A c.9804A>T p.Q3268H Missense 67/79 - 1
X-31222081-T-C c.9804A>G p.Q3268= Synonymous 67/79 - 2
X-31222081-T-G c.9804A>C p.Q3268H Missense 67/79 - 1
X-31222081-TTG-AAA c.9802_9804delinsTTT p.Q3268F Missense 67/79 - 1
X-31222081-TTG-ACA c.9802_9804delinsTGT p.Q3268C Missense 67/79 - 1
X-31222081-TTG-ATA c.9802_9804delinsTAT p.Q3268Y Missense 67/79 - 1
X-31222081-TTG-CAT c.9802_9804delinsATG p.Q3268M Missense 67/79 - 1
X-31222081-TTG-CCA c.9802_9804delinsTGG p.Q3268W Missense 67/79 - 1
X-31222081-TTG-GTC c.9802_9804delinsGAC p.Q3268D Missense 67/79 - 1
X-31222081-TTG-GTT c.9802_9804delinsAAC p.Q3268N Missense 67/79 - 1
X-31222082-T-A c.9803A>T p.Q3268L Missense 67/79 - 1
X-31222082-T-C c.9803A>G p.Q3268R Missense 67/79 - 1
X-31222082-T-G c.9803A>C p.Q3268P Missense 67/79 - 1
X-31222082-TG-AC c.9802_9803delinsGT p.Q3268V Missense 67/79 - 1
X-31222082-TG-AT c.9802_9803delinsAT p.Q3268I Missense 67/79 - 1
X-31222082-TG-CC c.9802_9803delinsGG p.Q3268G Missense 67/79 - 1
X-31222082-TG-GA c.9802_9803delinsTC p.Q3268S Missense 67/79 - 1
X-31222082-TG-GC c.9802_9803delinsGC p.Q3268A Missense 67/79 - 1
X-31222082-TG-GT c.9802_9803delinsAC p.Q3268T Missense 67/79 - 1
X-31222083-G-A c.9802C>T p.Q3268* Nonsense 67/79 - 1
X-31222083-G-C c.9802C>G p.Q3268E Missense 67/79 - 1
X-31222083-G-T c.9802C>A p.Q3268K Missense 67/79 - 2
X-31222084-GAA-CAT c.9799_9801delinsATG p.F3267M Missense 67/79 - 1
X-31222084-GAA-CTC c.9799_9801delinsGAG p.F3267E Missense 67/79 - 1
X-31222084-GAA-CTT c.9799_9801delinsAAG p.F3267K Missense 67/79 - 1
X-31222084-GAA-TTG c.9799_9801delinsCAA p.F3267Q Missense 67/79 - 1
X-31222084-GA-CC c.9800_9801delinsGG p.F3267W Missense 67/79 - 1
X-31222085-AA-CC c.9799_9800delinsGG p.F3267G Missense 67/79 - 1
X-31222085-AA-CG c.9799_9800delinsCG p.F3267R Missense 67/79 - 1
X-31222085-AA-GC c.9799_9800delinsGC p.F3267A Missense 67/79 - 1
X-31222085-AA-GG c.9799_9800delinsCC p.F3267P Missense 67/79 - 1
X-31222085-AA-GT c.9799_9800delinsAC p.F3267T Missense 67/79 - 1
X-31222085-AA-TC c.9799_9800delinsGA p.F3267D Missense 67/79 - 1
X-31222085-AA-TG c.9799_9800delinsCA p.F3267H Missense 67/79 - 1
X-31222085-AA-TT c.9799_9800inv p.F3267N Missense 67/79 - 1
X-31222085-A-C c.9800T>G p.F3267C Missense 67/79 - 1
X-31222085-A-G c.9800T>C p.F3267S Missense 67/79 - 1
X-31222085-A-T c.9800T>A p.F3267Y Missense 67/79 - 1
X-31222084-G-C c.9801C>G p.F3267L Missense 67/79 - 1
X-31222084-G-T c.9801C>A p.F3267L Missense 67/79 - 1
X-31222086-A-C c.9799T>G p.F3267V Missense 67/79 - 1
X-31222086-A-G c.9799T>C p.F3267L Missense 67/79 - 1
X-31222086-A-T c.9799T>A p.F3267I Missense 67/79 - 1
X-31222087-G-C c.9798C>G p.C3266W Missense 67/79 - 1
X-31222087-GCA-CAT c.9796_9798delinsATG p.C3266M Missense 67/79 - 1
X-31222087-GCA-CTC c.9796_9798delinsGAG p.C3266E Missense 67/79 - 1
X-31222087-GCA-CTT c.9796_9798delinsAAG p.C3266K Missense 67/79 - 1
X-31222087-GCA-TTG c.9796_9798delinsCAA p.C3266Q Missense 67/79 - 1
X-31222088-C-A c.9797G>T p.C3266F Missense 67/79 - 1
X-31222088-CA-AC c.9796_9797delinsGT p.C3266V Missense 67/79 - 1
X-31222088-CA-AG c.9796_9797delinsCT p.C3266L Missense 67/79 - 1
X-31222088-CA-AT c.9796_9797delinsAT p.C3266I Missense 67/79 - 1
X-31222088-CA-GC c.9796_9797delinsGC p.C3266A Missense 67/79 - 1
X-31222088-CA-GG c.9796_9797delinsCC p.C3266P Missense 67/79 - 1
X-31222088-CA-GT c.9796_9797delinsAC p.C3266T Missense 67/79 - 1
X-31222088-CA-TC c.9796_9797delinsGA p.C3266D Missense 67/79 - 1
X-31222088-CA-TG c.9796_9797inv p.C3266H Missense 67/79 - 1
X-31222088-CA-TT c.9796_9797delinsAA p.C3266N Missense 67/79 - 1
X-31222088-C-T c.9797G>A p.C3266Y Missense 67/79 - 1
X-31222088-C-G c.9797G>C p.C3266S Missense 67/79 - 1
X-31222089-A-C c.9796T>G p.C3266G Missense 67/79 - 1
X-31222089-A-G c.9796T>C p.C3266R Missense 67/79 - 1
X-31222089-A-T c.9796T>A p.C3266S Missense 67/79 - 1
X-31222090-G-A c.9795C>T p.S3265= Synonymous 67/79 - 1
X-31222090-G-C c.9795C>G p.S3265R Missense 67/79 - 1
X-31222090-GC-CA c.9794_9795delinsTG p.S3265M Missense 67/79 - 1
X-31222090-GC-CT c.9794_9795delinsAG p.S3265K Missense 67/79 - 1
X-31222090-GCT-CCA c.9793_9795delinsTGG p.S3265W Missense 67/79 - 1
X-31222090-GCT-CTC c.9793_9795delinsGAG p.S3265E Missense 67/79 - 1
X-31222090-GCT-TTG c.9793_9795delinsCAA p.S3265Q Missense 67/79 - 1
X-31222090-G-T c.9795C>A p.S3265R Missense 67/79 - 1
X-31222092-T-G c.9793A>C p.S3265R Missense 67/79 - 1
X-31222091-C-A c.9794G>T p.S3265I Missense 67/79 - 1
X-31222091-C-G c.9794G>C p.S3265T Missense 67/79 - 1
X-31222091-C-T c.9794G>A p.S3265N Missense 67/79 - 1
X-31222091-CT-AA c.9793_9794delinsTT p.S3265F Missense 67/79 - 1
X-31222091-CT-AC c.9793_9794delinsGT p.S3265V Missense 67/79 - 1
X-31222091-CT-AG c.9793_9794inv p.S3265L Missense 67/79 - 1
X-31222091-CT-GC c.9793_9794delinsGC p.S3265A Missense 67/79 - 1
X-31222091-CT-GG c.9793_9794delinsCC p.S3265P Missense 67/79 - 1
X-31222091-CT-TA c.9793_9794delinsTA p.S3265Y Missense 67/79 - 1
X-31222091-CT-TC c.9793_9794delinsGA p.S3265D Missense 67/79 - 1
X-31222091-CT-TG c.9793_9794delinsCA p.S3265H Missense 67/79 - 1
X-31222092-T-A c.9793A>T p.S3265C Missense 67/79 - 1
X-31222092-T-C c.9793A>G p.S3265G Missense 67/79 - 1
X-31222093-CC-AT c.9791_9792delinsAT p.R3264H Missense 67/79 - 1
X-31222093-CCG-AAA c.9790_9792delinsTTT p.R3264F Missense 67/79 - 1
X-31222093-CCG-ACA c.9790_9792delinsTGT p.R3264C Missense 67/79 - 1
X-31222093-CCG-ATA c.9790_9792delinsTAT p.R3264Y Missense 67/79 - 1
X-31222093-CCG-GAT c.9790_9792delinsATC p.R3264I Missense 67/79 - 1
X-31222093-CCG-GCT c.9790_9792delinsAGC p.R3264S Missense 67/79 - 1
X-31222093-CCG-GTC c.9790_9792delinsGAC p.R3264D Missense 67/79 - 1
X-31222093-CCG-GTT c.9790_9792delinsAAC p.R3264N Missense 67/79 - 1
X-31222094-C-A c.9791G>T p.R3264L Missense 67/79 - 1
X-31222094-C-G c.9791G>C p.R3264P Missense 67/79 - 1
X-31222094-CG-AC c.9790_9791delinsGT p.R3264V Missense 67/79 - 1
X-31222094-CG-AT c.9790_9791delinsAT p.R3264M Missense 67/79 - 1
X-31222094-CG-GC c.9790_9791delinsGC p.R3264A Missense 67/79 - 1
X-31222094-CG-GT c.9790_9791delinsAC p.R3264T Missense 67/79 - 1
X-31222094-CG-TC c.9790_9791delinsGA p.R3264E Missense 67/79 - 1
X-31222094-CG-TT c.9790_9791delinsAA p.R3264K Missense 67/79 - 1
X-31222094-C-T c.9791G>A p.R3264Q Missense 67/79 - 1
X-31222095-G-A c.9790C>T p.R3264W Missense 67/79 - 1
X-31222095-G-C c.9790C>G p.R3264G Missense 67/79 - 1
X-31222096-G-A c.9789C>T p.V3263= Synonymous 67/79 - 2
X-31222096-GAC-CAT c.9787_9789delinsATG p.V3263M Missense 67/79 - 1
X-31222096-GAC-CCA c.9787_9789delinsTGG p.V3263W Missense 67/79 - 1
X-31222096-GAC-CTT c.9787_9789delinsAAG p.V3263K Missense 67/79 - 1
X-31222096-GA-CT c.9788_9789delinsAG p.V3263E Missense 67/79 - 1
X-31222096-GAC-TTG c.9787_9789delinsCAA p.V3263Q Missense 67/79 - 1
X-31222097-A-C c.9788T>G p.V3263G Missense 67/79 - 1
X-31222097-AC-CA c.9787_9788delinsTG p.V3263C Missense 67/79 - 1
X-31222097-AC-CG c.9787_9788delinsCG p.V3263R Missense 67/79 - 1
X-31222097-AC-CT c.9787_9788delinsAG p.V3263S Missense 67/79 - 1
X-31222097-AC-GG c.9787_9788delinsCC p.V3263P Missense 67/79 - 1
X-31222097-AC-GT c.9787_9788inv p.V3263T Missense 67/79 - 1
X-31222097-AC-TA c.9787_9788delinsTA p.V3263Y Missense 67/79 - 1
X-31222097-AC-TG c.9787_9788delinsCA p.V3263H Missense 67/79 - 1
X-31222097-AC-TT c.9787_9788delinsAA p.V3263N Missense 67/79 - 1
X-31222097-A-G c.9788T>C p.V3263A Missense 67/79 - 1
X-31222097-A-T c.9788T>A p.V3263D Missense 67/79 - 1
X-31222098-C-A c.9787G>T p.V3263F Missense 67/79 - 1
X-31222098-C-G c.9787G>C p.V3263L Missense 67/79 - 1
X-31222098-C-T c.9787G>A p.V3263I Missense 67/79 - 1
X-31222099-A-C c.9786T>G p.S3262R Missense 67/79 - 1
X-31222099-AC-CA c.9785_9786delinsTG p.S3262M Missense 67/79 - 1
X-31222099-AC-CT c.9785_9786delinsAG p.S3262K Missense 67/79 - 1
X-31222099-ACT-CCA c.9784_9786delinsTGG p.S3262W Missense 67/79 - 1
X-31222099-ACT-CTC c.9784_9786delinsGAG p.S3262E Missense 67/79 - 1
X-31222099-ACT-TTG c.9784_9786delinsCAA p.S3262Q Missense 67/79 - 1
X-31222099-A-T c.9786T>A p.S3262R Missense 67/79 - 1
X-31222101-T-G c.9784A>C p.S3262R Missense 67/79 - 1
X-31222100-C-A c.9785G>T p.S3262I Missense 67/79 - 1
X-31222100-C-G c.9785G>C p.S3262T Missense 67/79 - 1
X-31222100-C-T c.9785G>A p.S3262N Missense 67/79 - 3
X-31222100-CT-AA c.9784_9785delinsTT p.S3262F Missense 67/79 - 1
X-31222100-CT-AC c.9784_9785delinsGT p.S3262V Missense 67/79 - 1
X-31222100-CT-AG c.9784_9785inv p.S3262L Missense 67/79 - 1
X-31222100-CT-GC c.9784_9785delinsGC p.S3262A Missense 67/79 - 1
X-31222100-CT-GG c.9784_9785delinsCC p.S3262P Missense 67/79 - 1
X-31222100-CT-TA c.9784_9785delinsTA p.S3262Y Missense 67/79 - 1
X-31222100-CT-TC c.9784_9785delinsGA p.S3262D Missense 67/79 - 1
X-31222100-CT-TG c.9784_9785delinsCA p.S3262H Missense 67/79 - 1
X-31222101-T-A c.9784A>T p.S3262C Missense 67/79 - 1
X-31222101-T-C c.9784A>G p.S3262G Missense 67/79 - 1
X-31222102-TG-AT c.9782_9783delinsAT p.P3261H Missense 67/79 - 1
X-31222102-TGG-AAA c.9781_9783delinsTTT p.P3261F Missense 67/79 - 1
X-31222102-TGG-ACA c.9781_9783delinsTGT p.P3261C Missense 67/79 - 1
X-31222102-TGG-ATA c.9781_9783delinsTAT p.P3261Y Missense 67/79 - 1
X-31222102-TGG-CAT c.9781_9783delinsATG p.P3261M Missense 67/79 - 1
X-31222102-TGG-CCA c.9781_9783inv p.P3261W Missense 67/79 - 1
X-31222102-TGG-GTC c.9781_9783delinsGAC p.P3261D Missense 67/79 - 1
X-31222102-TGG-GTT c.9781_9783delinsAAC p.P3261N Missense 67/79 - 1
X-31222103-G-A c.9782C>T p.P3261L Missense 67/79 - 1
X-31222103-G-C c.9782C>G p.P3261R Missense 67/79 - 1
X-31222103-GG-AC c.9781_9782delinsGT p.P3261V Missense 67/79 - 1
X-31222103-GG-AT c.9781_9782delinsAT p.P3261I Missense 67/79 - 1
X-31222103-GG-CC c.9781_9782inv p.P3261G Missense 67/79 - 1
X-31222103-GG-TC c.9781_9782delinsGA p.P3261E Missense 67/79 - 1
X-31222103-GG-TT c.9781_9782delinsAA p.P3261K Missense 67/79 - 1
X-31222103-G-T c.9782C>A p.P3261Q Missense 67/79 - 1
X-31222104-G-A c.9781C>T p.P3261S Missense 67/79 - 1
X-31222104-G-C c.9781C>G p.P3261A Missense 67/79 - 1
X-31222104-G-T c.9781C>A p.P3261T Missense 67/79 - 1
X-31222105-C-A c.9780G>T p.E3260D Missense 67/79 - 1
X-31222105-C-G c.9780G>C p.E3260D Missense 67/79 - 1
X-31222105-CTC-AAA c.9778_9780delinsTTT p.E3260F Missense 67/79 - 1
X-31222105-CTC-ACA c.9778_9780delinsTGT p.E3260C Missense 67/79 - 1
X-31222105-CTC-ATA c.9778_9780delinsTAT p.E3260Y Missense 67/79 - 1
X-31222105-CTC-ATG c.9778_9780delinsCAT p.E3260H Missense 67/79 - 1
X-31222105-CTC-GAT c.9778_9780delinsATC p.E3260I Missense 67/79 - 1
X-31222105-CTC-GTT c.9778_9780delinsAAC p.E3260N Missense 67/79 - 1
X-31222106-T-A c.9779A>T p.E3260V Missense 67/79 - 1
X-31222106-T-C c.9779A>G p.E3260G Missense 67/79 - 1
X-31222106-TC-AG c.9778_9779delinsCT p.E3260L Missense 67/79 - 1
X-31222106-TC-AT c.9778_9779delinsAT p.E3260M Missense 67/79 - 1
X-31222106-TC-CA c.9778_9779delinsTG p.E3260W Missense 67/79 - 1
X-31222106-TC-CT c.9778_9779delinsAG p.E3260R Missense 67/79 - 1
X-31222106-TC-GA c.9778_9779inv p.E3260S Missense 67/79 - 1
X-31222106-TC-GG c.9778_9779delinsCC p.E3260P Missense 67/79 - 1
X-31222106-TC-GT c.9778_9779delinsAC p.E3260T Missense 67/79 - 1
X-31222106-T-G c.9779A>C p.E3260A Missense 67/79 - 1
X-31222107-C-G c.9778G>C p.E3260Q Missense 67/79 - 1
X-31222107-C-T c.9778G>A p.E3260K Missense 67/79 - 1
X-31222108-AA-CC c.9776_9777delinsGG p.I3259R Missense 67/79 - 1
X-31222108-AA-CT c.9776_9777delinsAG p.I3259K Missense 67/79 - 1
X-31222108-AAT-CCA c.9775_9777delinsTGG p.I3259W Missense 67/79 - 1
X-31222108-AAT-CTC c.9775_9777delinsGAG p.I3259E Missense 67/79 - 1
X-31222108-AAT-TTG c.9775_9777delinsCAA p.I3259Q Missense 67/79 - 1
X-31222108-A-C c.9777T>G p.I3259M Missense 67/79 - 1
X-31222107-C-CA c.9777dup p.E3260* Nonsense 67/79 - 1
X-31222109-A-C c.9776T>G p.I3259S Missense 67/79 - 1
X-31222109-A-G c.9776T>C p.I3259T Missense 67/79 - 1
X-31222109-A-T c.9776T>A p.I3259N Missense 67/79 - 1
X-31222109-AT-CA c.9775_9776delinsTG p.I3259C Missense 67/79 - 1
X-31222109-AT-CC c.9775_9776delinsGG p.I3259G Missense 67/79 - 1
X-31222109-AT-GC c.9775_9776delinsGC p.I3259A Missense 67/79 - 1
X-31222109-AT-GG c.9775_9776delinsCC p.I3259P Missense 67/79 - 1
X-31222109-AT-TA c.9775_9776delinsTA p.I3259Y Missense 67/79 - 1
X-31222109-AT-TC c.9775_9776delinsGA p.I3259D Missense 67/79 - 1
X-31222109-AT-TG c.9775_9776delinsCA p.I3259H Missense 67/79 - 1
X-31222110-T-A c.9775A>T p.I3259F Missense 67/79 - 1
X-31222110-T-C c.9775A>G p.I3259V Missense 67/79 - 1
X-31222110-T-G c.9775A>C p.I3259L Missense 67/79 - 1
X-31222113-T-C c.9772A>G p.N3258D Missense 67/79 - 3
X-31222116-T-TA c.9768_9769insT p.S3257* Nonsense 67/79 - 1
X-31222117-GCC-CAT c.9766_9768delinsATG p.G3256M Missense 67/79 - 1
X-31222117-GCC-CCA c.9766_9768delinsTGG p.G3256W Missense 67/79 - 1
X-31222117-GCC-CTT c.9766_9768delinsAAG p.G3256K Missense 67/79 - 1
X-31222117-GC-CT c.9767_9768delinsAG p.G3256E Missense 67/79 - 1
X-31222117-GCC-TTG c.9766_9768delinsCAA p.G3256Q Missense 67/79 - 1
X-31222118-C-A c.9767G>T p.G3256V Missense 67/79 - 1
X-31222118-CC-AA c.9766_9767delinsTT p.G3256F Missense 67/79 - 1
X-31222118-CC-AG c.9766_9767delinsCT p.G3256L Missense 67/79 - 1
X-31222118-CC-AT c.9766_9767delinsAT p.G3256I Missense 67/79 - 1
X-31222118-CC-GG c.9766_9767inv p.G3256P Missense 67/79 - 1
X-31222118-CC-GT c.9766_9767delinsAC p.G3256T Missense 67/79 - 1
X-31222118-CC-TA c.9766_9767delinsTA p.G3256Y Missense 67/79 - 1
X-31222118-CC-TG c.9766_9767delinsCA p.G3256H Missense 67/79 - 1
X-31222118-CC-TT c.9766_9767delinsAA p.G3256N Missense 67/79 - 1
X-31222118-C-G c.9767G>C p.G3256A Missense 67/79 - 1
X-31222118-C-T c.9767G>A p.G3256D Missense 67/79 - 2
X-31222119-C-A c.9766G>T p.G3256C Missense 67/79 - 1
X-31222119-C-G c.9766G>C p.G3256R Missense 67/79 - 1
X-31222119-C-T c.9766G>A p.G3256S Missense 67/79 - 2
X-31222120-CCC-AAA c.9763_9765delinsTTT p.G3255F Missense 67/79 - 1
X-31222120-CCC-ACA c.9763_9765delinsTGT p.G3255C Missense 67/79 - 1
X-31222120-CCC-ATA c.9763_9765delinsTAT p.G3255Y Missense 67/79 - 1
X-31222120-CCC-ATG c.9763_9765delinsCAT p.G3255H Missense 67/79 - 1
X-31222120-CCC-GAT c.9763_9765delinsATC p.G3255I Missense 67/79 - 1
X-31222120-CCC-GCT c.9763_9765delinsAGC p.G3255S Missense 67/79 - 1
X-31222120-CCC-GTT c.9763_9765delinsAAC p.G3255N Missense 67/79 - 1
X-31222120-CC-GT c.9764_9765delinsAC p.G3255D Missense 67/79 - 1
X-31222121-C-A c.9764G>T p.G3255V Missense 67/79 - 2
X-31222121-CC-AG c.9763_9764delinsCT p.G3255L Missense 67/79 - 1
X-31222121-CC-AT c.9763_9764delinsAT p.G3255M Missense 67/79 - 1
X-31222121-CC-GG c.9763_9764inv p.G3255P Missense 67/79 - 1
X-31222121-CC-GT c.9763_9764delinsAC p.G3255T Missense 67/79 - 1
X-31222121-CC-TG c.9763_9764delinsCA p.G3255Q Missense 67/79 - 1
X-31222121-CC-TT c.9763_9764delinsAA p.G3255K Missense 67/79 - 1
X-31222121-C-G c.9764G>C p.G3255A Missense 67/79 - 1
X-31222121-C-T c.9764G>A p.G3255E Missense 67/79 - 3
X-31222122-C-A c.9763G>T p.G3255W Missense 67/79 - 1
X-31222122-C-G c.9763G>C p.G3255R Missense 67/79 - 2
X-31222122-C-T c.9763G>A p.G3255R Missense 67/79 - 2
X-31222123-AAA-CAT c.9760_9762delinsATG p.F3254M Missense 67/79 - 1
X-31222123-AAA-CTC c.9760_9762delinsGAG p.F3254E Missense 67/79 - 1
X-31222123-AAA-CTT c.9760_9762delinsAAG p.F3254K Missense 67/79 - 1
X-31222123-AAA-TTG c.9760_9762delinsCAA p.F3254Q Missense 67/79 - 1
X-31222123-AA-CC c.9761_9762delinsGG p.F3254W Missense 67/79 - 1
X-31222124-AA-CC c.9760_9761delinsGG p.F3254G Missense 67/79 - 1
X-31222124-AA-CG c.9760_9761delinsCG p.F3254R Missense 67/79 - 1
X-31222124-AA-GC c.9760_9761delinsGC p.F3254A Missense 67/79 - 1
X-31222124-AA-GG c.9760_9761delinsCC p.F3254P Missense 67/79 - 1
X-31222124-AA-GT c.9760_9761delinsAC p.F3254T Missense 67/79 - 1
X-31222124-AA-TC c.9760_9761delinsGA p.F3254D Missense 67/79 - 1
X-31222124-AA-TG c.9760_9761delinsCA p.F3254H Missense 67/79 - 1
X-31222124-AA-TT c.9760_9761inv p.F3254N Missense 67/79 - 1
X-31222124-A-C c.9761T>G p.F3254C Missense 67/79 - 1
X-31222124-A-G c.9761T>C p.F3254S Missense 67/79 - 1
X-31222124-A-T c.9761T>A p.F3254Y Missense 67/79 - 1
X-31222123-A-C c.9762T>G p.F3254L Missense 67/79 - 1
X-31222123-A-T c.9762T>A p.F3254L Missense 67/79 - 1
X-31222125-A-C c.9760T>G p.F3254V Missense 67/79 - 1
X-31222125-A-G c.9760T>C p.F3254L Missense 67/79 - 1
X-31222125-A-T c.9760T>A p.F3254I Missense 67/79 - 1
X-31222126-GGA-CAT c.9757_9759delinsATG p.S3253M Missense 67/79 - 1
X-31222126-GGA-CTC c.9757_9759delinsGAG p.S3253E Missense 67/79 - 1
X-31222126-GGA-CTT c.9757_9759delinsAAG p.S3253K Missense 67/79 - 1
X-31222126-GGA-TTG c.9757_9759delinsCAA p.S3253Q Missense 67/79 - 1
X-31222126-GG-CC c.9758_9759inv p.S3253W Missense 67/79 - 1
X-31222127-G-A c.9758C>T p.S3253F Missense 67/79 - 2
X-31222127-GA-AC c.9757_9758delinsGT p.S3253V Missense 67/79 - 1
X-31222127-GA-AG c.9757_9758delinsCT p.S3253L Missense 67/79 - 1
X-31222127-GA-AT c.9757_9758delinsAT p.S3253I Missense 67/79 - 1
X-31222127-GA-CC c.9757_9758delinsGG p.S3253G Missense 67/79 - 1
X-31222127-GA-CG c.9757_9758delinsCG p.S3253R Missense 67/79 - 1
X-31222127-GA-TC c.9757_9758inv p.S3253D Missense 67/79 - 1
X-31222127-GA-TG c.9757_9758delinsCA p.S3253H Missense 67/79 - 1
X-31222127-GA-TT c.9757_9758delinsAA p.S3253N Missense 67/79 - 1
X-31222127-G-C c.9758C>G p.S3253C Missense 67/79 - 1
X-31222127-G-T c.9758C>A p.S3253Y Missense 67/79 - 1
X-31222128-A-C c.9757T>G p.S3253A Missense 67/79 - 1
X-31222128-A-G c.9757T>C p.S3253P Missense 67/79 - 1
X-31222128-A-T c.9757T>A p.S3253T Missense 67/79 - 1
X-31222129-TGC-AAA c.9754_9756delinsTTT p.A3252F Missense 67/79 - 1
X-31222129-TGC-ACA c.9754_9756delinsTGT p.A3252C Missense 67/79 - 1
X-31222129-TGC-ATA c.9754_9756delinsTAT p.A3252Y Missense 67/79 - 1
X-31222129-TGC-ATG c.9754_9756delinsCAT p.A3252H Missense 67/79 - 1
X-31222129-TGC-CAT c.9754_9756delinsATG p.A3252M Missense 67/79 - 1
X-31222129-TGC-CCA c.9754_9756delinsTGG p.A3252W Missense 67/79 - 1
X-31222129-TGC-GTT c.9754_9756delinsAAC p.A3252N Missense 67/79 - 1
X-31222129-TG-GT c.9755_9756delinsAC p.A3252D Missense 67/79 - 1
X-31222130-G-A c.9755C>T p.A3252V Missense 67/79 - 1
X-31222130-G-C c.9755C>G p.A3252G Missense 67/79 - 1
X-31222130-GC-AG c.9754_9755delinsCT p.A3252L Missense 67/79 - 1
X-31222130-GC-AT c.9754_9755delinsAT p.A3252I Missense 67/79 - 1
X-31222130-GC-CT c.9754_9755delinsAG p.A3252R Missense 67/79 - 1
X-31222130-GC-TG c.9754_9755delinsCA p.A3252Q Missense 67/79 - 1
X-31222130-GC-TT c.9754_9755delinsAA p.A3252K Missense 67/79 - 1
X-31222130-G-T c.9755C>A p.A3252E Missense 67/79 - 1
X-31222131-C-A c.9754G>T p.A3252S Missense 67/79 - 1
X-31222131-C-G c.9754G>C p.A3252P Missense 67/79 - 1
X-31222131-C-T c.9754G>A p.A3252T Missense 67/79 - 1
X-31222132-AAC-CAT c.9751_9753delinsATG p.V3251M Missense 67/79 - 1
X-31222132-AAC-CCA c.9751_9753delinsTGG p.V3251W Missense 67/79 - 1
X-31222132-AAC-CTT c.9751_9753delinsAAG p.V3251K Missense 67/79 - 1
X-31222132-AA-CT c.9752_9753delinsAG p.V3251E Missense 67/79 - 1
X-31222132-AAC-TTG c.9751_9753delinsCAA p.V3251Q Missense 67/79 - 1
X-31222133-A-C c.9752T>G p.V3251G Missense 67/79 - 1
X-31222133-AC-CA c.9751_9752delinsTG p.V3251C Missense 67/79 - 1
X-31222133-AC-CG c.9751_9752delinsCG p.V3251R Missense 67/79 - 1
X-31222133-AC-CT c.9751_9752delinsAG p.V3251S Missense 67/79 - 1
X-31222133-AC-GG c.9751_9752delinsCC p.V3251P Missense 67/79 - 1
X-31222133-AC-GT c.9751_9752inv p.V3251T Missense 67/79 - 1
X-31222133-AC-TA c.9751_9752delinsTA p.V3251Y Missense 67/79 - 1
X-31222133-AC-TG c.9751_9752delinsCA p.V3251H Missense 67/79 - 1
X-31222133-AC-TT c.9751_9752delinsAA p.V3251N Missense 67/79 - 1
X-31222133-A-G c.9752T>C p.V3251A Missense 67/79 - 1
X-31222133-A-T c.9752T>A p.V3251D Missense 67/79 - 1
X-31222134-C-A c.9751G>T p.V3251F Missense 67/79 - 1
X-31222134-C-G c.9751G>C p.V3251L Missense 67/79 - 1
X-31222134-C-T c.9751G>A p.V3251I Missense 67/79 - 1
X-31222135-T-A c.9750A>T p.E3250D Missense 67/79 - 1
X-31222135-T-G c.9750A>C p.E3250D Missense 67/79 - 1
X-31222135-TTC-AAA c.9748_9750delinsTTT p.E3250F Missense 67/79 - 1
X-31222135-TTC-ACA c.9748_9750delinsTGT p.E3250C Missense 67/79 - 1
X-31222135-TTC-ATA c.9748_9750delinsTAT p.E3250Y Missense 67/79 - 1
X-31222135-TTC-ATG c.9748_9750delinsCAT p.E3250H Missense 67/79 - 1
X-31222135-TTC-CAT c.9748_9750delinsATG p.E3250M Missense 67/79 - 1
X-31222135-TTC-CCA c.9748_9750delinsTGG p.E3250W Missense 67/79 - 1
X-31222135-TTC-GTT c.9748_9750delinsAAC p.E3250N Missense 67/79 - 1
X-31222136-T-A c.9749A>T p.E3250V Missense 67/79 - 1
X-31222136-T-C c.9749A>G p.E3250G Missense 67/79 - 1
X-31222136-TC-AG c.9748_9749delinsCT p.E3250L Missense 67/79 - 1
X-31222136-TC-AT c.9748_9749delinsAT p.E3250I Missense 67/79 - 1
X-31222136-TC-CT c.9748_9749delinsAG p.E3250R Missense 67/79 - 1
X-31222136-TC-GA c.9748_9749inv p.E3250S Missense 67/79 - 1
X-31222136-TC-GG c.9748_9749delinsCC p.E3250P Missense 67/79 - 1
X-31222136-TC-GT c.9748_9749delinsAC p.E3250T Missense 67/79 - 1
X-31222136-T-G c.9749A>C p.E3250A Missense 67/79 - 1
X-31222137-C-A c.9748G>T p.E3250* Nonsense 67/79 - 1
X-31222137-C-G c.9748G>C p.E3250Q Missense 67/79 - 1
X-31222137-C-T c.9748G>A p.E3250K Missense 67/79 - 1
X-31222138-ACC-CAT c.9745_9747delinsATG p.G3249M Missense 67/79 - 1
X-31222138-ACC-CCA c.9745_9747delinsTGG p.G3249W Missense 67/79 - 1
X-31222138-ACC-CTT c.9745_9747delinsAAG p.G3249K Missense 67/79 - 1
X-31222138-AC-CT c.9746_9747delinsAG p.G3249E Missense 67/79 - 1
X-31222138-ACC-TTG c.9745_9747delinsCAA p.G3249Q Missense 67/79 - 1
X-31222139-C-A c.9746G>T p.G3249V Missense 67/79 - 1
X-31222139-CC-AA c.9745_9746delinsTT p.G3249F Missense 67/79 - 1
X-31222139-CC-AG c.9745_9746delinsCT p.G3249L Missense 67/79 - 1
X-31222139-CC-AT c.9745_9746delinsAT p.G3249I Missense 67/79 - 1
X-31222139-CC-GG c.9745_9746inv p.G3249P Missense 67/79 - 1
X-31222139-CC-GT c.9745_9746delinsAC p.G3249T Missense 67/79 - 1
X-31222139-CC-TA c.9745_9746delinsTA p.G3249Y Missense 67/79 - 1
X-31222139-CC-TG c.9745_9746delinsCA p.G3249H Missense 67/79 - 1
X-31222139-CC-TT c.9745_9746delinsAA p.G3249N Missense 67/79 - 1
X-31222139-C-G c.9746G>C p.G3249A Missense 67/79 - 1
X-31222139-C-T c.9746G>A p.G3249D Missense 67/79 - 1
X-31222140-C-A c.9745G>T p.G3249C Missense 67/79 - 1
X-31222140-C-G c.9745G>C p.G3249R Missense 67/79 - 1
X-31222140-C-T c.9745G>A p.G3249S Missense 67/79 - 1
X-31222141-C-A c.9744G>T p.L3248F Missense 67/79 - 1
X-31222141-CAA-ATG c.9742_9744delinsCAT p.L3248H Missense 67/79 - 1
X-31222141-CA-AC c.9743_9744delinsGT p.L3248C Missense 67/79 - 1
X-31222141-CAA-GAT c.9742_9744delinsATC p.L3248I Missense 67/79 - 1
X-31222141-CAA-GTC c.9742_9744delinsGAC p.L3248D Missense 67/79 - 1
X-31222141-CAA-GTT c.9742_9744delinsAAC p.L3248N Missense 67/79 - 1
X-31222141-CA-AT c.9743_9744delinsAT p.L3248Y Missense 67/79 - 1
X-31222141-C-G c.9744G>C p.L3248F Missense 67/79 - 1
X-31222142-AA-CC c.9742_9743delinsGG p.L3248G Missense 67/79 - 1
X-31222142-AA-CT c.9742_9743delinsAG p.L3248R Missense 67/79 - 1
X-31222142-AA-GC c.9742_9743delinsGC p.L3248A Missense 67/79 - 1
X-31222142-AA-GG c.9742_9743delinsCC p.L3248P Missense 67/79 - 1
X-31222142-AA-GT c.9742_9743delinsAC p.L3248T Missense 67/79 - 1
X-31222142-AA-TC c.9742_9743delinsGA p.L3248E Missense 67/79 - 1
X-31222142-AA-TG c.9742_9743delinsCA p.L3248Q Missense 67/79 - 1
X-31222142-AA-TT c.9742_9743inv p.L3248K Missense 67/79 - 1
X-31222142-A-C c.9743T>G p.L3248W Missense 67/79 - 1
X-31222142-A-G c.9743T>C p.L3248S Missense 67/79 - 1
X-31222143-A-C c.9742T>G p.L3248V Missense 67/79 - 1
X-31222143-A-T c.9742T>A p.L3248M Missense 67/79 - 1
X-31222144-C-A c.9741G>T p.Q3247H Missense 67/79 - 1
X-31222144-C-G c.9741G>C p.Q3247H Missense 67/79 - 1
X-31222144-CTG-AAA c.9739_9741delinsTTT p.Q3247F Missense 67/79 - 1
X-31222144-CTG-ACA c.9739_9741delinsTGT p.Q3247C Missense 67/79 - 1
X-31222144-CTG-ATA c.9739_9741delinsTAT p.Q3247Y Missense 67/79 - 1
X-31222144-CTG-GAT c.9739_9741delinsATC p.Q3247I Missense 67/79 - 1
X-31222144-CTG-GTC c.9739_9741delinsGAC p.Q3247D Missense 67/79 - 1
X-31222144-CTG-GTT c.9739_9741delinsAAC p.Q3247N Missense 67/79 - 1
X-31222145-T-A c.9740A>T p.Q3247L Missense 67/79 - 1
X-31222145-T-C c.9740A>G p.Q3247R Missense 67/79 - 1
X-31222145-T-G c.9740A>C p.Q3247P Missense 67/79 - 1
X-31222145-TG-AC c.9739_9740delinsGT p.Q3247V Missense 67/79 - 1
X-31222145-TG-AT c.9739_9740delinsAT p.Q3247M Missense 67/79 - 1
X-31222145-TG-CA c.9739_9740inv p.Q3247W Missense 67/79 - 1
X-31222145-TG-CC c.9739_9740delinsGG p.Q3247G Missense 67/79 - 1
X-31222145-TG-GA c.9739_9740delinsTC p.Q3247S Missense 67/79 - 1
X-31222145-TG-GC c.9739_9740delinsGC p.Q3247A Missense 67/79 - 1
X-31222145-TG-GT c.9739_9740delinsAC p.Q3247T Missense 67/79 - 1
X-31222146-G-C c.9739C>G p.Q3247E Missense 67/79 - 1
X-31222146-G-T c.9739C>A p.Q3247K Missense 67/79 - 1
X-31222147-T-A c.9738A>T p.R3246S Missense 67/79 - 1
X-31222147-TC-CA c.9737_9738delinsTG p.R3246M Missense 67/79 - 1
X-31222147-TC-GT c.9737_9738delinsAC p.R3246N Missense 67/79 - 1
X-31222147-TCT-AAA c.9736_9738delinsTTT p.R3246F Missense 67/79 - 1
X-31222147-TCT-ACA c.9736_9738delinsTGT p.R3246C Missense 67/79 - 1
X-31222147-TCT-ATA c.9736_9738delinsTAT p.R3246Y Missense 67/79 - 1
X-31222147-TCT-ATG c.9736_9738delinsCAT p.R3246H Missense 67/79 - 1
X-31222147-TCT-CCA c.9736_9738delinsTGG p.R3246W Missense 67/79 - 1
X-31222147-TCT-GTC c.9736_9738delinsGAC p.R3246D Missense 67/79 - 1
X-31222147-T-G c.9738A>C p.R3246S Missense 67/79 - 1
X-31222148-C-A c.9737G>T p.R3246I Missense 67/79 - 1
X-31222148-C-G c.9737G>C p.R3246T Missense 67/79 - 1
X-31222148-C-T c.9737G>A p.R3246K Missense 67/79 - 1
X-31222148-CT-AC c.9736_9737delinsGT p.R3246V Missense 67/79 - 1
X-31222148-CT-AG c.9736_9737inv p.R3246L Missense 67/79 - 1
X-31222148-CT-GC c.9736_9737delinsGC p.R3246A Missense 67/79 - 1
X-31222148-CT-GG c.9736_9737delinsCC p.R3246P Missense 67/79 - 1
X-31222148-CT-TC c.9736_9737delinsGA p.R3246E Missense 67/79 - 1
X-31222148-CT-TG c.9736_9737delinsCA p.R3246Q Missense 67/79 - 1
X-31222149-T-C c.9736A>G p.R3246G Missense 67/79 - 1
X-31222150-TG-AT c.9734_9735delinsAT p.P3245H Missense 67/79 - 1
X-31222150-TGG-AAA c.9733_9735delinsTTT p.P3245F Missense 67/79 - 1
X-31222150-TGG-ACA c.9733_9735delinsTGT p.P3245C Missense 67/79 - 1
X-31222150-TGG-ATA c.9733_9735delinsTAT p.P3245Y Missense 67/79 - 1
X-31222150-TGG-CAT c.9733_9735delinsATG p.P3245M Missense 67/79 - 1
X-31222150-TGG-CCA c.9733_9735inv p.P3245W Missense 67/79 - 1
X-31222150-TGG-GTC c.9733_9735delinsGAC p.P3245D Missense 67/79 - 1
X-31222150-TGG-GTT c.9733_9735delinsAAC p.P3245N Missense 67/79 - 1
X-31222151-G-A c.9734C>T p.P3245L Missense 67/79 - 1
X-31222151-G-C c.9734C>G p.P3245R Missense 67/79 - 1
X-31222151-GG-AC c.9733_9734delinsGT p.P3245V Missense 67/79 - 1
X-31222151-GG-AT c.9733_9734delinsAT p.P3245I Missense 67/79 - 1
X-31222151-GG-CC c.9733_9734inv p.P3245G Missense 67/79 - 1
X-31222151-GG-TC c.9733_9734delinsGA p.P3245E Missense 67/79 - 1
X-31222151-GG-TT c.9733_9734delinsAA p.P3245K Missense 67/79 - 1
X-31222151-G-T c.9734C>A p.P3245Q Missense 67/79 - 1
X-31222152-G-A c.9733C>T p.P3245S Missense 67/79 - 1
X-31222152-G-C c.9733C>G p.P3245A Missense 67/79 - 1
X-31222152-G-T c.9733C>A p.P3245T Missense 67/79 - 1
X-31222153-AA-CC c.9731_9732delinsGG p.I3244R Missense 67/79 - 1
X-31222153-AA-CT c.9731_9732delinsAG p.I3244K Missense 67/79 - 1
X-31222153-AAT-CCA c.9730_9732delinsTGG p.I3244W Missense 67/79 - 1
X-31222153-AAT-CTC c.9730_9732delinsGAG p.I3244E Missense 67/79 - 1
X-31222153-AAT-TTG c.9730_9732delinsCAA p.I3244Q Missense 67/79 - 1
X-31222153-A-C c.9732T>G p.I3244M Missense 67/79 - 1
X-31222154-A-C c.9731T>G p.I3244S Missense 67/79 - 1
X-31222154-A-G c.9731T>C p.I3244T Missense 67/79 - 1
X-31222154-A-T c.9731T>A p.I3244N Missense 67/79 - 1
X-31222154-AT-CA c.9730_9731delinsTG p.I3244C Missense 67/79 - 1
X-31222154-AT-CC c.9730_9731delinsGG p.I3244G Missense 67/79 - 1
X-31222154-AT-GC c.9730_9731delinsGC p.I3244A Missense 67/79 - 1
X-31222154-AT-GG c.9730_9731delinsCC p.I3244P Missense 67/79 - 1
X-31222154-AT-TA c.9730_9731delinsTA p.I3244Y Missense 67/79 - 1
X-31222154-AT-TC c.9730_9731delinsGA p.I3244D Missense 67/79 - 1
X-31222154-AT-TG c.9730_9731delinsCA p.I3244H Missense 67/79 - 1
X-31222155-T-A c.9730A>T p.I3244F Missense 67/79 - 1
X-31222155-T-C c.9730A>G p.I3244V Missense 67/79 - 1
X-31222155-T-G c.9730A>C p.I3244L Missense 67/79 - 1
X-31222156-T-A c.9729A>T p.Q3243H Missense 67/79 - 1
X-31222156-T-G c.9729A>C p.Q3243H Missense 67/79 - 1
X-31222156-TTG-AAA c.9727_9729delinsTTT p.Q3243F Missense 67/79 - 1
X-31222156-TTG-ACA c.9727_9729delinsTGT p.Q3243C Missense 67/79 - 1
X-31222156-TTG-ATA c.9727_9729delinsTAT p.Q3243Y Missense 67/79 - 1
X-31222156-TTG-CAT c.9727_9729delinsATG p.Q3243M Missense 67/79 - 1
X-31222156-TTG-CCA c.9727_9729delinsTGG p.Q3243W Missense 67/79 - 1
X-31222156-TTG-GTC c.9727_9729delinsGAC p.Q3243D Missense 67/79 - 1
X-31222156-TTG-GTT c.9727_9729delinsAAC p.Q3243N Missense 67/79 - 1
X-31222157-T-A c.9728A>T p.Q3243L Missense 67/79 - 1
X-31222157-T-C c.9728A>G p.Q3243R Missense 67/79 - 1
X-31222157-T-G c.9728A>C p.Q3243P Missense 67/79 - 1
X-31222157-TG-AC c.9727_9728delinsGT p.Q3243V Missense 67/79 - 1
X-31222157-TG-AT c.9727_9728delinsAT p.Q3243I Missense 67/79 - 1
X-31222157-TG-CC c.9727_9728delinsGG p.Q3243G Missense 67/79 - 1
X-31222157-TG-GA c.9727_9728delinsTC p.Q3243S Missense 67/79 - 1
X-31222157-TG-GC c.9727_9728delinsGC p.Q3243A Missense 67/79 - 1
X-31222157-TG-GT c.9727_9728delinsAC p.Q3243T Missense 67/79 - 1
X-31222158-G-C c.9727C>G p.Q3243E Missense 67/79 - 1
X-31222158-G-T c.9727C>A p.Q3243K Missense 67/79 - 1
X-31222159-GA-CC c.9725_9726delinsGG p.I3242R Missense 67/79 - 1
X-31222159-GA-CT c.9725_9726delinsAG p.I3242K Missense 67/79 - 1
X-31222159-GAT-CCA c.9724_9726delinsTGG p.I3242W Missense 67/79 - 1
X-31222159-GAT-CTC c.9724_9726delinsGAG p.I3242E Missense 67/79 - 1
X-31222159-GAT-TTG c.9724_9726delinsCAA p.I3242Q Missense 67/79 - 1
X-31222159-G-C c.9726C>G p.I3242M Missense 67/79 - 1
X-31222160-A-C c.9725T>G p.I3242S Missense 67/79 - 1
X-31222160-A-G c.9725T>C p.I3242T Missense 67/79 - 1
X-31222160-A-T c.9725T>A p.I3242N Missense 67/79 - 1
X-31222160-AT-CA c.9724_9725delinsTG p.I3242C Missense 67/79 - 1
X-31222160-AT-CC c.9724_9725delinsGG p.I3242G Missense 67/79 - 1
X-31222160-AT-GC c.9724_9725delinsGC p.I3242A Missense 67/79 - 1
X-31222160-AT-GG c.9724_9725delinsCC p.I3242P Missense 67/79 - 1
X-31222160-AT-TA c.9724_9725delinsTA p.I3242Y Missense 67/79 - 1
X-31222160-AT-TC c.9724_9725delinsGA p.I3242D Missense 67/79 - 1
X-31222160-AT-TG c.9724_9725delinsCA p.I3242H Missense 67/79 - 1
X-31222161-T-A c.9724A>T p.I3242F Missense 67/79 - 1
X-31222161-T-C c.9724A>G p.I3242V Missense 67/79 - 1
X-31222161-T-G c.9724A>C p.I3242L Missense 67/79 - 1
X-31222162-AGA-CAT c.9721_9723delinsATG p.S3241M Missense 67/79 - 1
X-31222162-AGA-CTC c.9721_9723delinsGAG p.S3241E Missense 67/79 - 1
X-31222162-AGA-CTT c.9721_9723delinsAAG p.S3241K Missense 67/79 - 1
X-31222162-AGA-TTG c.9721_9723delinsCAA p.S3241Q Missense 67/79 - 1
X-31222162-AG-CC c.9722_9723delinsGG p.S3241W Missense 67/79 - 1
X-31222161-TAG-T c.9722_9723del p.S3241Yfs*9 Frameshift 67/79 - 2
X-31222163-G-A c.9722C>T p.S3241F Missense 67/79 - 1
X-31222163-GA-AC c.9721_9722delinsGT p.S3241V Missense 67/79 - 1
X-31222163-GA-AG c.9721_9722delinsCT p.S3241L Missense 67/79 - 1
X-31222163-GA-AT c.9721_9722delinsAT p.S3241I Missense 67/79 - 1
X-31222163-GA-CC c.9721_9722delinsGG p.S3241G Missense 67/79 - 1
X-31222163-GA-CG c.9721_9722delinsCG p.S3241R Missense 67/79 - 1
X-31222163-GA-TC c.9721_9722inv p.S3241D Missense 67/79 - 1
X-31222163-GA-TG c.9721_9722delinsCA p.S3241H Missense 67/79 - 1
X-31222163-GA-TT c.9721_9722delinsAA p.S3241N Missense 67/79 - 1
X-31222163-G-C c.9722C>G p.S3241C Missense 67/79 - 2
X-31222163-G-T c.9722C>A p.S3241Y Missense 67/79 - 1
X-31222164-A-C c.9721T>G p.S3241A Missense 67/79 - 1
X-31222164-A-G c.9721T>C p.S3241P Missense 67/79 - 1
X-31222164-A-T c.9721T>A p.S3241T Missense 67/79 - 1
X-31222165-A-C c.9720T>G p.D3240E Missense 67/79 - 1
X-31222165-A-T c.9720T>A p.D3240E Missense 67/79 - 1
X-31222165-ATC-CAT c.9718_9720delinsATG p.D3240M Missense 67/79 - 1
X-31222165-ATC-CCA c.9718_9720delinsTGG p.D3240W Missense 67/79 - 1
X-31222165-ATC-CTT c.9718_9720delinsAAG p.D3240K Missense 67/79 - 1
X-31222165-ATC-TTG c.9718_9720delinsCAA p.D3240Q Missense 67/79 - 1
X-31222166-T-A c.9719A>T p.D3240V Missense 67/79 - 1
X-31222166-T-C c.9719A>G p.D3240G Missense 67/79 - 1
X-31222166-TC-AA c.9718_9719delinsTT p.D3240F Missense 67/79 - 1
X-31222166-TC-AG c.9718_9719delinsCT p.D3240L Missense 67/79 - 1
X-31222166-TC-AT c.9718_9719delinsAT p.D3240I Missense 67/79 - 1
X-31222166-TC-CA c.9718_9719delinsTG p.D3240C Missense 67/79 - 1
X-31222166-TC-CG c.9718_9719delinsCG p.D3240R Missense 67/79 - 1
X-31222166-TC-CT c.9718_9719delinsAG p.D3240S Missense 67/79 - 1
X-31222166-TC-GG c.9718_9719delinsCC p.D3240P Missense 67/79 - 1
X-31222166-TC-GT c.9718_9719delinsAC p.D3240T Missense 67/79 - 1
X-31222166-T-G c.9719A>C p.D3240A Missense 67/79 - 1
X-31222167-C-A c.9718G>T p.D3240Y Missense 67/79 - 1
X-31222167-C-G c.9718G>C p.D3240H Missense 67/79 - 1
X-31222167-C-T c.9718G>A p.D3240N Missense 67/79 - 1
X-31222168-A-C c.9717T>G p.H3239Q Missense 67/79 - 1
X-31222168-A-T c.9717T>A p.H3239Q Missense 67/79 - 1
X-31222168-ATG-CAT c.9715_9717inv p.H3239M Missense 67/79 - 1
X-31222168-ATG-CCA c.9715_9717delinsTGG p.H3239W Missense 67/79 - 1
X-31222168-ATG-CTC c.9715_9717delinsGAG p.H3239E Missense 67/79 - 1
X-31222168-ATG-CTT c.9715_9717delinsAAG p.H3239K Missense 67/79 - 1
X-31222169-T-A c.9716A>T p.H3239L Missense 67/79 - 1
X-31222169-T-C c.9716A>G p.H3239R Missense 67/79 - 2
X-31222169-T-G c.9716A>C p.H3239P Missense 67/79 - 1
X-31222169-TG-AA c.9715_9716delinsTT p.H3239F Missense 67/79 - 1
X-31222169-TG-AC c.9715_9716delinsGT p.H3239V Missense 67/79 - 1
X-31222169-TG-AT c.9715_9716delinsAT p.H3239I Missense 67/79 - 1
X-31222169-TG-CA c.9715_9716inv p.H3239C Missense 67/79 - 1
X-31222169-TG-CC c.9715_9716delinsGG p.H3239G Missense 67/79 - 1
X-31222169-TG-CT c.9715_9716delinsAG p.H3239S Missense 67/79 - 1
X-31222169-TG-GC c.9715_9716delinsGC p.H3239A Missense 67/79 - 1
X-31222169-TG-GT c.9715_9716delinsAC p.H3239T Missense 67/79 - 1
X-31222170-G-A c.9715C>T p.H3239Y Missense 67/79 - 2
X-31222170-G-C c.9715C>G p.H3239D Missense 67/79 - 1
X-31222170-G-T c.9715C>A p.H3239N Missense 67/79 - 1
X-31222169-TGCA-T c.9713_9715del p.L3238del InFrameDeletion 67/79 - 1
X-31222171-CA-AT c.9713_9714delinsAT p.L3238H Missense 67/79 - 1
X-31222171-CAG-AAA c.9712_9714delinsTTT p.L3238F Missense 67/79 - 1
X-31222171-CAG-ACA c.9712_9714delinsTGT p.L3238C Missense 67/79 - 1
X-31222171-CAG-ATA c.9712_9714delinsTAT p.L3238Y Missense 67/79 - 1
X-31222171-CAG-GAT c.9712_9714delinsATC p.L3238I Missense 67/79 - 1
X-31222171-CAG-GTC c.9712_9714delinsGAC p.L3238D Missense 67/79 - 1
X-31222171-CAG-GTT c.9712_9714delinsAAC p.L3238N Missense 67/79 - 1
X-31222171-C-T c.9714G>A p.L3238= Synonymous 67/79 - 1
X-31222172-A-C c.9713T>G p.L3238R Missense 67/79 - 1
X-31222172-A-G c.9713T>C p.L3238P Missense 67/79 - 1
X-31222172-AG-CA c.9712_9713delinsTG p.L3238W Missense 67/79 - 1
X-31222172-AG-CC c.9712_9713delinsGG p.L3238G Missense 67/79 - 1
X-31222172-AG-GA c.9712_9713delinsTC p.L3238S Missense 67/79 - 1
X-31222172-AG-GC c.9712_9713delinsGC p.L3238A Missense 67/79 - 1
X-31222172-AG-GT c.9712_9713delinsAC p.L3238T Missense 67/79 - 1
X-31222172-AG-TC c.9712_9713delinsGA p.L3238E Missense 67/79 - 1
X-31222172-AG-TT c.9712_9713delinsAA p.L3238K Missense 67/79 - 1
X-31222172-A-T c.9713T>A p.L3238Q Missense 67/79 - 1
X-31222173-G-C c.9712C>G p.L3238V Missense 67/79 - 1
X-31222173-G-T c.9712C>A p.L3238M Missense 67/79 - 1
X-31222171-CAGA-C c.9711_9713del p.L3238del InFrameDeletion 67/79 - 4
X-31222174-AAG-CAT c.9709_9711delinsATG p.L3237M Missense 67/79 - 1
X-31222174-AAG-CCA c.9709_9711delinsTGG p.L3237W Missense 67/79 - 1
X-31222174-AAG-CTC c.9709_9711delinsGAG p.L3237E Missense 67/79 - 1
X-31222174-AAG-CTT c.9709_9711inv p.L3237K Missense 67/79 - 1
X-31222174-AA-TT c.9710_9711inv p.L3237Q Missense 67/79 - 1
X-31222175-A-C c.9710T>G p.L3237R Missense 67/79 - 1
X-31222175-A-G c.9710T>C p.L3237P Missense 67/79 - 1
X-31222175-AG-CA c.9709_9710delinsTG p.L3237C Missense 67/79 - 1
X-31222175-AG-CC c.9709_9710delinsGG p.L3237G Missense 67/79 - 1
X-31222175-AG-CT c.9709_9710inv p.L3237S Missense 67/79 - 1
X-31222175-AG-GC c.9709_9710delinsGC p.L3237A Missense 67/79 - 1
X-31222175-AG-GT c.9709_9710delinsAC p.L3237T Missense 67/79 - 1
X-31222175-AG-TA c.9709_9710delinsTA p.L3237Y Missense 67/79 - 1
X-31222175-AG-TC c.9709_9710delinsGA p.L3237D Missense 67/79 - 1
X-31222175-AG-TT c.9709_9710delinsAA p.L3237N Missense 67/79 - 1
X-31222175-A-T c.9710T>A p.L3237H Missense 67/79 - 2
X-31222176-G-A c.9709C>T p.L3237F Missense 67/79 - 1
X-31222176-G-C c.9709C>G p.L3237V Missense 67/79 - 1
X-31222176-G-T c.9709C>A p.L3237I Missense 67/79 - 1
X-31222177-G-A c.9708C>T p.L3236= Synonymous 67/79 - 2
X-31222177-GAG-CAT c.9706_9708delinsATG p.L3236M Missense 67/79 - 1
X-31222177-GAG-CCA c.9706_9708delinsTGG p.L3236W Missense 67/79 - 1
X-31222177-GAG-CTC c.9706_9708inv p.L3236E Missense 67/79 - 1
X-31222177-GAG-CTT c.9706_9708delinsAAG p.L3236K Missense 67/79 - 1
X-31222177-GA-TT c.9707_9708delinsAA p.L3236Q Missense 67/79 - 1
X-31222177-G-C c.9708C>G p.L3236= Synonymous 67/79 - 1
X-31222177-G-T c.9708C>A p.L3236= Synonymous 67/79 - 1
X-31222178-A-C c.9707T>G p.L3236R Missense 67/79 - 1
X-31222178-A-G c.9707T>C p.L3236P Missense 67/79 - 1
X-31222178-AG-CA c.9706_9707delinsTG p.L3236C Missense 67/79 - 1
X-31222178-AG-CC c.9706_9707delinsGG p.L3236G Missense 67/79 - 1
X-31222178-AG-CT c.9706_9707inv p.L3236S Missense 67/79 - 1
X-31222178-AG-GC c.9706_9707delinsGC p.L3236A Missense 67/79 - 1
X-31222178-AG-GT c.9706_9707delinsAC p.L3236T Missense 67/79 - 1
X-31222178-AG-TA c.9706_9707delinsTA p.L3236Y Missense 67/79 - 1
X-31222178-AG-TC c.9706_9707delinsGA p.L3236D Missense 67/79 - 1
X-31222178-AG-TT c.9706_9707delinsAA p.L3236N Missense 67/79 - 1
X-31222178-A-T c.9707T>A p.L3236H Missense 67/79 - 1
X-31222179-G-A c.9706C>T p.L3236F Missense 67/79 - 1
X-31222179-G-C c.9706C>G p.L3236V Missense 67/79 - 1
X-31222179-G-T c.9706C>A p.L3236I Missense 67/79 - 1
X-31222178-AG-A c.9706del p.L3236Sfs*47 Frameshift 67/79 - 1
X-31222180-GCC-CAT c.9703_9705delinsATG p.G3235M Missense 67/79 - 1
X-31222180-GCC-CCA c.9703_9705delinsTGG p.G3235W Missense 67/79 - 1
X-31222180-GCC-CTT c.9703_9705delinsAAG p.G3235K Missense 67/79 - 1
X-31222180-GC-CT c.9704_9705delinsAG p.G3235E Missense 67/79 - 1
X-31222180-GCC-TTG c.9703_9705delinsCAA p.G3235Q Missense 67/79 - 1
X-31222181-C-A c.9704G>T p.G3235V Missense 67/79 - 1
X-31222181-CC-AA c.9703_9704delinsTT p.G3235F Missense 67/79 - 1
X-31222181-CC-AG c.9703_9704delinsCT p.G3235L Missense 67/79 - 1
X-31222181-CC-AT c.9703_9704delinsAT p.G3235I Missense 67/79 - 1
X-31222181-CC-GG c.9703_9704inv p.G3235P Missense 67/79 - 1
X-31222181-CC-GT c.9703_9704delinsAC p.G3235T Missense 67/79 - 1
X-31222181-CC-TA c.9703_9704delinsTA p.G3235Y Missense 67/79 - 1
X-31222181-CC-TG c.9703_9704delinsCA p.G3235H Missense 67/79 - 1
X-31222181-CC-TT c.9703_9704delinsAA p.G3235N Missense 67/79 - 1
X-31222181-C-G c.9704G>C p.G3235A Missense 67/79 - 1
X-31222181-C-T c.9704G>A p.G3235D Missense 67/79 - 3
X-31222182-C-A c.9703G>T p.G3235C Missense 67/79 - 1
X-31222182-C-G c.9703G>C p.G3235R Missense 67/79 - 1
X-31222182-C-T c.9703G>A p.G3235S Missense 67/79 - 1
X-31222183-C-A c.9702G>T p.L3234= Synonymous 67/79 - 1
X-31222183-CA-AT c.9701_9702delinsAT p.L3234H Missense 67/79 - 1
X-31222183-CAG-AAA c.9700_9702delinsTTT p.L3234F Missense 67/79 - 1
X-31222183-CAG-ACA c.9700_9702delinsTGT p.L3234C Missense 67/79 - 1
X-31222183-CAG-ATA c.9700_9702delinsTAT p.L3234Y Missense 67/79 - 1
X-31222183-CAG-GAT c.9700_9702delinsATC p.L3234I Missense 67/79 - 1
X-31222183-CAG-GTC c.9700_9702delinsGAC p.L3234D Missense 67/79 - 1
X-31222183-CAG-GTT c.9700_9702delinsAAC p.L3234N Missense 67/79 - 1
X-31222184-A-C c.9701T>G p.L3234R Missense 67/79 - 1
X-31222184-A-G c.9701T>C p.L3234P Missense 67/79 - 1
X-31222184-AG-CA c.9700_9701delinsTG p.L3234W Missense 67/79 - 1
X-31222184-AG-CC c.9700_9701delinsGG p.L3234G Missense 67/79 - 1
X-31222184-AG-GA c.9700_9701delinsTC p.L3234S Missense 67/79 - 1
X-31222184-AG-GC c.9700_9701delinsGC p.L3234A Missense 67/79 - 1
X-31222184-AG-GT c.9700_9701delinsAC p.L3234T Missense 67/79 - 1
X-31222184-AG-TC c.9700_9701delinsGA p.L3234E Missense 67/79 - 1
X-31222184-AG-TT c.9700_9701delinsAA p.L3234K Missense 67/79 - 1
X-31222184-A-T c.9701T>A p.L3234Q Missense 67/79 - 1
X-31222185-G-C c.9700C>G p.L3234V Missense 67/79 - 1
X-31222185-G-T c.9700C>A p.L3234M Missense 67/79 - 1
X-31222186-C-A c.9699G>T p.R3233S Missense 67/79 - 1
X-31222186-CC-GA c.9698_9699delinsTC p.R3233I Missense 67/79 - 1
X-31222186-CC-GT c.9698_9699delinsAC p.R3233N Missense 67/79 - 1
X-31222186-CCT-AAA c.9697_9699delinsTTT p.R3233F Missense 67/79 - 1
X-31222186-CCT-ACA c.9697_9699delinsTGT p.R3233C Missense 67/79 - 1
X-31222186-CCT-ATA c.9697_9699delinsTAT p.R3233Y Missense 67/79 - 1
X-31222186-CCT-ATG c.9697_9699delinsCAT p.R3233H Missense 67/79 - 1
X-31222186-CCT-GTC c.9697_9699delinsGAC p.R3233D Missense 67/79 - 1
X-31222186-C-G c.9699G>C p.R3233S Missense 67/79 - 1
X-31222187-C-A c.9698G>T p.R3233M Missense 67/79 - 1
X-31222187-C-G c.9698G>C p.R3233T Missense 67/79 - 1
X-31222187-C-T c.9698G>A p.R3233K Missense 67/79 - 1
X-31222187-CT-AC c.9697_9698delinsGT p.R3233V Missense 67/79 - 1
X-31222187-CT-AG c.9697_9698inv p.R3233L Missense 67/79 - 1
X-31222187-CT-GC c.9697_9698delinsGC p.R3233A Missense 67/79 - 1
X-31222187-CT-GG c.9697_9698delinsCC p.R3233P Missense 67/79 - 1
X-31222187-CT-TC c.9697_9698delinsGA p.R3233E Missense 67/79 - 1
X-31222187-CT-TG c.9697_9698delinsCA p.R3233Q Missense 67/79 - 1
X-31222188-T-A c.9697A>T p.R3233W Missense 67/79 - 1
X-31222188-T-C c.9697A>G p.R3233G Missense 67/79 - 1
X-31222189-GCG-CAT c.9694_9696delinsATG p.R3232M Missense 67/79 - 1
X-31222189-GCG-CCA c.9694_9696delinsTGG p.R3232W Missense 67/79 - 1
X-31222189-GCG-CTC c.9694_9696delinsGAG p.R3232E Missense 67/79 - 1
X-31222189-GCG-CTT c.9694_9696delinsAAG p.R3232K Missense 67/79 - 1
X-31222189-GC-TT c.9695_9696delinsAA p.R3232Q Missense 67/79 - 1
X-31222190-C-A c.9695G>T p.R3232L Missense 67/79 - 1
X-31222190-C-G c.9695G>C p.R3232P Missense 67/79 - 1
X-31222190-CG-AA c.9694_9695delinsTT p.R3232F Missense 67/79 - 1
X-31222190-CG-AC c.9694_9695delinsGT p.R3232V Missense 67/79 - 1
X-31222190-CG-AT c.9694_9695delinsAT p.R3232I Missense 67/79 - 1
X-31222190-CG-GC c.9694_9695delinsGC p.R3232A Missense 67/79 - 1
X-31222190-CG-GT c.9694_9695delinsAC p.R3232T Missense 67/79 - 1
X-31222190-CG-TA c.9694_9695delinsTA p.R3232Y Missense 67/79 - 1
X-31222190-CG-TC c.9694_9695delinsGA p.R3232D Missense 67/79 - 1
X-31222190-CG-TT c.9694_9695delinsAA p.R3232N Missense 67/79 - 1
X-31222190-C-T c.9695G>A p.R3232H Missense 67/79 - 1
X-31222191-G-A c.9694C>T p.R3232C Missense 67/79 - 1
X-31222191-G-C c.9694C>G p.R3232G Missense 67/79 - 1
X-31222191-G-T c.9694C>A p.R3232S Missense 67/79 - 1
X-31222192-C-A c.9693G>T p.Q3231H Missense 67/79 - 1
X-31222192-C-G c.9693G>C p.Q3231H Missense 67/79 - 1
X-31222192-CTG-AAA c.9691_9693delinsTTT p.Q3231F Missense 67/79 - 1
X-31222192-CTG-ACA c.9691_9693delinsTGT p.Q3231C Missense 67/79 - 1
X-31222192-CTG-ATA c.9691_9693delinsTAT p.Q3231Y Missense 67/79 - 1
X-31222192-CTG-GAT c.9691_9693delinsATC p.Q3231I Missense 67/79 - 1
X-31222192-CTG-GTC c.9691_9693delinsGAC p.Q3231D Missense 67/79 - 1
X-31222192-CTG-GTT c.9691_9693delinsAAC p.Q3231N Missense 67/79 - 1
X-31222193-T-A c.9692A>T p.Q3231L Missense 67/79 - 1
X-31222193-T-C c.9692A>G p.Q3231R Missense 67/79 - 1
X-31222193-T-G c.9692A>C p.Q3231P Missense 67/79 - 1
X-31222193-TG-AC c.9691_9692delinsGT p.Q3231V Missense 67/79 - 1
X-31222193-TG-AT c.9691_9692delinsAT p.Q3231M Missense 67/79 - 1
X-31222193-TG-CA c.9691_9692inv p.Q3231W Missense 67/79 - 1
X-31222193-TG-CC c.9691_9692delinsGG p.Q3231G Missense 67/79 - 1
X-31222193-TG-GA c.9691_9692delinsTC p.Q3231S Missense 67/79 - 1
X-31222193-TG-GC c.9691_9692delinsGC p.Q3231A Missense 67/79 - 1
X-31222193-TG-GT c.9691_9692delinsAC p.Q3231T Missense 67/79 - 1
X-31222194-G-C c.9691C>G p.Q3231E Missense 67/79 - 1
X-31222194-G-T c.9691C>A p.Q3231K Missense 67/79 - 1
X-31222195-G-C c.9690C>G p.D3230E Missense 67/79 - 1
X-31222195-G-T c.9690C>A p.D3230E Missense 67/79 - 1
X-31222195-GTC-CAT c.9688_9690delinsATG p.D3230M Missense 67/79 - 1
X-31222195-GTC-CCA c.9688_9690delinsTGG p.D3230W Missense 67/79 - 1
X-31222195-GTC-CTT c.9688_9690delinsAAG p.D3230K Missense 67/79 - 1
X-31222195-GTC-TTG c.9688_9690delinsCAA p.D3230Q Missense 67/79 - 1
X-31222196-GT-G c.9689del p.D3230Afs*53 Frameshift 67/79 - 1
X-31222196-T-A c.9689A>T p.D3230V Missense 67/79 - 1
X-31222196-T-C c.9689A>G p.D3230G Missense 67/79 - 1
X-31222196-TC-AA c.9688_9689delinsTT p.D3230F Missense 67/79 - 1
X-31222196-TC-AG c.9688_9689delinsCT p.D3230L Missense 67/79 - 1
X-31222196-TC-AT c.9688_9689delinsAT p.D3230I Missense 67/79 - 1
X-31222196-TC-CA c.9688_9689delinsTG p.D3230C Missense 67/79 - 1
X-31222196-TC-CG c.9688_9689delinsCG p.D3230R Missense 67/79 - 1
X-31222196-TC-CT c.9688_9689delinsAG p.D3230S Missense 67/79 - 1
X-31222196-TC-GG c.9688_9689delinsCC p.D3230P Missense 67/79 - 1
X-31222196-TC-GT c.9688_9689delinsAC p.D3230T Missense 67/79 - 1
X-31222196-T-G c.9689A>C p.D3230A Missense 67/79 - 1
X-31222197-C-A c.9688G>T p.D3230Y Missense 67/79 - 1
X-31222197-C-G c.9688G>C p.D3230H Missense 67/79 - 1
X-31222197-C-T c.9688G>A p.D3230N Missense 67/79 - 1
X-31222198-A-C c.9687T>G p.C3229W Missense 67/79 - 1
X-31222198-ACA-CAT c.9685_9687delinsATG p.C3229M Missense 67/79 - 1
X-31222198-ACA-CTC c.9685_9687delinsGAG p.C3229E Missense 67/79 - 1
X-31222198-ACA-CTT c.9685_9687delinsAAG p.C3229K Missense 67/79 - 1
X-31222198-ACA-TTG c.9685_9687delinsCAA p.C3229Q Missense 67/79 - 1
X-31222199-C-A c.9686G>T p.C3229F Missense 67/79 - 1
X-31222199-CA-AC c.9685_9686delinsGT p.C3229V Missense 67/79 - 1
X-31222199-CA-AG c.9685_9686delinsCT p.C3229L Missense 67/79 - 1
X-31222199-CA-AT c.9685_9686delinsAT p.C3229I Missense 67/79 - 1
X-31222199-CA-GC c.9685_9686delinsGC p.C3229A Missense 67/79 - 1
X-31222199-CA-GG c.9685_9686delinsCC p.C3229P Missense 67/79 - 1
X-31222199-CA-GT c.9685_9686delinsAC p.C3229T Missense 67/79 - 1
X-31222199-CA-TC c.9685_9686delinsGA p.C3229D Missense 67/79 - 1
X-31222199-CA-TG c.9685_9686inv p.C3229H Missense 67/79 - 1
X-31222199-CA-TT c.9685_9686delinsAA p.C3229N Missense 67/79 - 1
X-31222199-C-T c.9686G>A p.C3229Y Missense 67/79 - 1
X-31222199-C-G c.9686G>C p.C3229S Missense 67/79 - 1
X-31222200-A-C c.9685T>G p.C3229G Missense 67/79 - 1
X-31222200-A-G c.9685T>C p.C3229R Missense 67/79 - 1
X-31222200-A-T c.9685T>A p.C3229S Missense 67/79 - 1
X-31222201-AAA-CAT c.9682_9684delinsATG p.F3228M Missense 67/79 - 1
X-31222201-AAA-CTC c.9682_9684delinsGAG p.F3228E Missense 67/79 - 1
X-31222201-AAA-CTT c.9682_9684delinsAAG p.F3228K Missense 67/79 - 1
X-31222201-AAA-TTG c.9682_9684delinsCAA p.F3228Q Missense 67/79 - 1
X-31222201-AA-CC c.9683_9684delinsGG p.F3228W Missense 67/79 - 1
X-31222202-AA-CC c.9682_9683delinsGG p.F3228G Missense 67/79 - 1
X-31222202-AA-CG c.9682_9683delinsCG p.F3228R Missense 67/79 - 1
X-31222202-AA-GC c.9682_9683delinsGC p.F3228A Missense 67/79 - 1
X-31222202-AA-GG c.9682_9683delinsCC p.F3228P Missense 67/79 - 1
X-31222202-AA-GT c.9682_9683delinsAC p.F3228T Missense 67/79 - 1
X-31222202-AA-TC c.9682_9683delinsGA p.F3228D Missense 67/79 - 1
X-31222202-AA-TG c.9682_9683delinsCA p.F3228H Missense 67/79 - 1
X-31222202-AA-TT c.9682_9683inv p.F3228N Missense 67/79 - 1
X-31222202-A-C c.9683T>G p.F3228C Missense 67/79 - 1
X-31222202-A-G c.9683T>C p.F3228S Missense 67/79 - 1
X-31222202-A-T c.9683T>A p.F3228Y Missense 67/79 - 1
X-31222201-A-C c.9684T>G p.F3228L Missense 67/79 - 3
X-31222201-A-T c.9684T>A p.F3228L Missense 67/79 - 3
X-31222203-A-C c.9682T>G p.F3228V Missense 67/79 - 1
X-31222203-A-G c.9682T>C p.F3228L Missense 67/79 - 5
X-31222203-A-T c.9682T>A p.F3228I Missense 67/79 - 1
X-31222204-TCC-AAA c.9679_9681delinsTTT p.G3227F Missense 67/79 - 1
X-31222204-TCC-ACA c.9679_9681delinsTGT p.G3227C Missense 67/79 - 1
X-31222204-TCC-ATA c.9679_9681delinsTAT p.G3227Y Missense 67/79 - 1
X-31222204-TCC-ATG c.9679_9681delinsCAT p.G3227H Missense 67/79 - 1
X-31222204-TCC-CAT c.9679_9681delinsATG p.G3227M Missense 67/79 - 1
X-31222204-TCC-CCA c.9679_9681delinsTGG p.G3227W Missense 67/79 - 1
X-31222204-TCC-GCT c.9679_9681delinsAGC p.G3227S Missense 67/79 - 1
X-31222204-TCC-GTT c.9679_9681delinsAAC p.G3227N Missense 67/79 - 1
X-31222204-TC-GT c.9680_9681delinsAC p.G3227D Missense 67/79 - 2
X-31222205-C-A c.9680G>T p.G3227V Missense 67/79 - 1
X-31222205-CC-AG c.9679_9680delinsCT p.G3227L Missense 67/79 - 1
X-31222205-CC-AT c.9679_9680delinsAT p.G3227I Missense 67/79 - 1
X-31222205-CC-GG c.9679_9680inv p.G3227P Missense 67/79 - 1
X-31222205-CC-GT c.9679_9680delinsAC p.G3227T Missense 67/79 - 1
X-31222205-CC-TG c.9679_9680delinsCA p.G3227Q Missense 67/79 - 1
X-31222205-CC-TT c.9679_9680delinsAA p.G3227K Missense 67/79 - 1
X-31222205-C-G c.9680G>C p.G3227A Missense 67/79 - 1
X-31222205-C-T c.9680G>A p.G3227E Missense 67/79 - 2
X-31222206-C-G c.9679G>C p.G3227R Missense 67/79 - 1
X-31222206-C-T c.9679G>A p.G3227R Missense 67/79 - 1
X-31222207-TG-CA c.9677_9678inv p.T3226M Missense 67/79 - 1
X-31222207-TG-GT c.9677_9678delinsAC p.T3226N Missense 67/79 - 1
X-31222207-TGT-AAA c.9676_9678delinsTTT p.T3226F Missense 67/79 - 1
X-31222207-TGT-ACA c.9676_9678inv p.T3226C Missense 67/79 - 1
X-31222207-TGT-ATA c.9676_9678delinsTAT p.T3226Y Missense 67/79 - 1
X-31222207-TGT-ATG c.9676_9678delinsCAT p.T3226H Missense 67/79 - 1
X-31222207-TGT-CCA c.9676_9678delinsTGG p.T3226W Missense 67/79 - 1
X-31222207-TGT-GTC c.9676_9678delinsGAC p.T3226D Missense 67/79 - 1
X-31222205-CCTGTTGAA-C c.9672_9679del p.S3224Rfs*4 Frameshift 67/79 - 2
X-31222208-G-A c.9677C>T p.T3226I Missense 67/79 - 1
X-31222208-G-C c.9677C>G p.T3226R Missense 67/79 - 1
X-31222208-G-T c.9677C>A p.T3226K Missense 67/79 - 2
X-31222208-GT-AC c.9676_9677inv p.T3226V Missense 67/79 - 1
X-31222208-GT-AG c.9676_9677delinsCT p.T3226L Missense 67/79 - 1
X-31222208-GT-CC c.9676_9677delinsGG p.T3226G Missense 67/79 - 1
X-31222208-GT-TC c.9676_9677delinsGA p.T3226E Missense 67/79 - 1
X-31222208-GT-TG c.9676_9677delinsCA p.T3226Q Missense 67/79 - 1
X-31222209-T-A c.9676A>T p.T3226S Missense 67/79 - 1
X-31222209-T-C c.9676A>G p.T3226A Missense 67/79 - 2
X-31222209-T-G c.9676A>C p.T3226P Missense 67/79 - 1
X-31222210-TG-AA c.9674_9675delinsTT p.S3225F Missense 67/79 - 1
X-31222210-TGA-ATG c.9673_9675delinsCAT p.S3225H Missense 67/79 - 1
X-31222210-TG-AC c.9674_9675delinsGT p.S3225C Missense 67/79 - 1
X-31222210-TGA-CAT c.9673_9675delinsATG p.S3225M Missense 67/79 - 1
X-31222210-TGA-GTC c.9673_9675delinsGAC p.S3225D Missense 67/79 - 1
X-31222210-TGA-GTT c.9673_9675delinsAAC p.S3225N Missense 67/79 - 1
X-31222210-TG-AT c.9674_9675delinsAT p.S3225Y Missense 67/79 - 1
X-31222210-TG-CC c.9674_9675delinsGG p.S3225W Missense 67/79 - 1
X-31222211-G-A c.9674C>T p.S3225L Missense 67/79 - 1
X-31222211-GA-AC c.9673_9674delinsGT p.S3225V Missense 67/79 - 1
X-31222211-GA-AT c.9673_9674delinsAT p.S3225I Missense 67/79 - 1
X-31222211-GA-CC c.9673_9674delinsGG p.S3225G Missense 67/79 - 1
X-31222211-GA-CT c.9673_9674delinsAG p.S3225R Missense 67/79 - 1
X-31222211-GA-TC c.9673_9674inv p.S3225E Missense 67/79 - 1
X-31222211-GA-TG c.9673_9674delinsCA p.S3225Q Missense 67/79 - 1
X-31222211-GA-TT c.9673_9674delinsAA p.S3225K Missense 67/79 - 1
X-31222212-A-C c.9673T>G p.S3225A Missense 67/79 - 1
X-31222212-A-G c.9673T>C p.S3225P Missense 67/79 - 1
X-31222212-A-T c.9673T>A p.S3225T Missense 67/79 - 1
X-31222213-A-C c.9672T>G p.S3224R Missense 67/79 - 1
X-31222213-AC-CA c.9671_9672delinsTG p.S3224M Missense 67/79 - 1
X-31222213-AC-CT c.9671_9672delinsAG p.S3224K Missense 67/79 - 1
X-31222213-ACT-CCA c.9670_9672delinsTGG p.S3224W Missense 67/79 - 1
X-31222213-ACT-CTC c.9670_9672delinsGAG p.S3224E Missense 67/79 - 1
X-31222213-ACT-TTG c.9670_9672delinsCAA p.S3224Q Missense 67/79 - 1
X-31222213-A-T c.9672T>A p.S3224R Missense 67/79 - 1
X-31222215-T-G c.9670A>C p.S3224R Missense 67/79 - 1
X-31222214-C-A c.9671G>T p.S3224I Missense 67/79 - 1
X-31222214-C-G c.9671G>C p.S3224T Missense 67/79 - 1
X-31222214-C-T c.9671G>A p.S3224N Missense 67/79 - 1
X-31222214-CT-AA c.9670_9671delinsTT p.S3224F Missense 67/79 - 1
X-31222214-CT-AC c.9670_9671delinsGT p.S3224V Missense 67/79 - 1
X-31222214-CT-AG c.9670_9671inv p.S3224L Missense 67/79 - 1
X-31222214-CT-GC c.9670_9671delinsGC p.S3224A Missense 67/79 - 1
X-31222214-CT-GG c.9670_9671delinsCC p.S3224P Missense 67/79 - 1
X-31222214-CT-TA c.9670_9671delinsTA p.S3224Y Missense 67/79 - 1
X-31222214-CT-TC c.9670_9671delinsGA p.S3224D Missense 67/79 - 1
X-31222214-CT-TG c.9670_9671delinsCA p.S3224H Missense 67/79 - 1
X-31222215-T-A c.9670A>T p.S3224C Missense 67/79 - 1
X-31222215-T-C c.9670A>G p.S3224G Missense 67/79 - 1
X-31222216-TGC-AAA c.9667_9669delinsTTT p.A3223F Missense 67/79 - 1
X-31222216-TGC-ACA c.9667_9669delinsTGT p.A3223C Missense 67/79 - 1
X-31222216-TGC-ATA c.9667_9669delinsTAT p.A3223Y Missense 67/79 - 1
X-31222216-TGC-ATG c.9667_9669delinsCAT p.A3223H Missense 67/79 - 1
X-31222216-TGC-CAT c.9667_9669delinsATG p.A3223M Missense 67/79 - 1
X-31222216-TGC-CCA c.9667_9669delinsTGG p.A3223W Missense 67/79 - 1
X-31222216-TGC-GTT c.9667_9669delinsAAC p.A3223N Missense 67/79 - 1
X-31222216-TG-GT c.9668_9669delinsAC p.A3223D Missense 67/79 - 1
X-31222217-G-A c.9668C>T p.A3223V Missense 67/79 - 1
X-31222217-G-C c.9668C>G p.A3223G Missense 67/79 - 2
X-31222217-GC-AG c.9667_9668delinsCT p.A3223L Missense 67/79 - 1
X-31222217-GC-AT c.9667_9668delinsAT p.A3223I Missense 67/79 - 1
X-31222217-GC-CT c.9667_9668delinsAG p.A3223R Missense 67/79 - 1
X-31222217-GC-TG c.9667_9668delinsCA p.A3223Q Missense 67/79 - 1
X-31222217-GC-TT c.9667_9668delinsAA p.A3223K Missense 67/79 - 1
X-31222217-G-T c.9668C>A p.A3223E Missense 67/79 - 1
X-31222218-C-A c.9667G>T p.A3223S Missense 67/79 - 1
X-31222218-C-G c.9667G>C p.A3223P Missense 67/79 - 1
X-31222218-C-T c.9667G>A p.A3223T Missense 67/79 - 2
X-31222219-CAC-AAA c.9664_9666delinsTTT p.V3222F Missense 67/79 - 1
X-31222219-CAC-ACA c.9664_9666delinsTGT p.V3222C Missense 67/79 - 1
X-31222219-CAC-ATA c.9664_9666delinsTAT p.V3222Y Missense 67/79 - 1
X-31222219-CAC-ATG c.9664_9666delinsCAT p.V3222H Missense 67/79 - 1
X-31222219-CAC-GAT c.9664_9666delinsATC p.V3222I Missense 67/79 - 1
X-31222219-CAC-GTT c.9664_9666delinsAAC p.V3222N Missense 67/79 - 1
X-31222219-CA-GT c.9665_9666delinsAC p.V3222D Missense 67/79 - 1
X-31222220-A-C c.9665T>G p.V3222G Missense 67/79 - 1
X-31222220-AC-CA c.9664_9665delinsTG p.V3222W Missense 67/79 - 1
X-31222220-AC-CT c.9664_9665delinsAG p.V3222R Missense 67/79 - 1
X-31222220-AC-GA c.9664_9665delinsTC p.V3222S Missense 67/79 - 1
X-31222220-AC-GG c.9664_9665delinsCC p.V3222P Missense 67/79 - 1
X-31222220-AC-GT c.9664_9665inv p.V3222T Missense 67/79 - 1
X-31222220-AC-TG c.9664_9665delinsCA p.V3222Q Missense 67/79 - 1
X-31222220-AC-TT c.9664_9665delinsAA p.V3222K Missense 67/79 - 1
X-31222220-A-G c.9665T>C p.V3222A Missense 67/79 - 1
X-31222220-A-T c.9665T>A p.V3222E Missense 67/79 - 1
X-31222221-C-A c.9664G>T p.V3222L Missense 67/79 - 1
X-31222221-C-G c.9664G>C p.V3222L Missense 67/79 - 2
X-31222221-C-T c.9664G>A p.V3222M Missense 67/79 - 1
X-31222222-T-A c.9663A>T p.Q3221H Missense 67/79 - 1
X-31222222-T-C c.9663A>G p.Q3221= Synonymous 67/79 - 1
X-31222222-T-G c.9663A>C p.Q3221H Missense 67/79 - 1
X-31222222-TTG-AAA c.9661_9663delinsTTT p.Q3221F Missense 67/79 - 1
X-31222222-TTG-ACA c.9661_9663delinsTGT p.Q3221C Missense 67/79 - 1
X-31222222-TTG-ATA c.9661_9663delinsTAT p.Q3221Y Missense 67/79 - 1
X-31222222-TTG-CAT c.9661_9663delinsATG p.Q3221M Missense 67/79 - 1
X-31222222-TTG-CCA c.9661_9663delinsTGG p.Q3221W Missense 67/79 - 1
X-31222222-TTG-GTC c.9661_9663delinsGAC p.Q3221D Missense 67/79 - 1
X-31222222-TTG-GTT c.9661_9663delinsAAC p.Q3221N Missense 67/79 - 1
X-31222223-T-A c.9662A>T p.Q3221L Missense 67/79 - 1
X-31222223-T-C c.9662A>G p.Q3221R Missense 67/79 - 1
X-31222223-T-G c.9662A>C p.Q3221P Missense 67/79 - 1
X-31222223-TG-AC c.9661_9662delinsGT p.Q3221V Missense 67/79 - 1
X-31222223-TG-AT c.9661_9662delinsAT p.Q3221I Missense 67/79 - 1
X-31222223-TG-CC c.9661_9662delinsGG p.Q3221G Missense 67/79 - 1
X-31222223-TG-GA c.9661_9662delinsTC p.Q3221S Missense 67/79 - 1
X-31222223-TG-GC c.9661_9662delinsGC p.Q3221A Missense 67/79 - 1
X-31222223-TG-GT c.9661_9662delinsAC p.Q3221T Missense 67/79 - 1
X-31222224-G-C c.9661C>G p.Q3221E Missense 67/79 - 1
X-31222224-G-T c.9661C>A p.Q3221K Missense 67/79 - 1
X-31222225-C-A c.9660G>T p.K3220N Missense 67/79 - 1
X-31222225-C-G c.9660G>C p.K3220N Missense 67/79 - 1
X-31222225-CT-GA c.9659_9660delinsTC p.K3220I Missense 67/79 - 1
X-31222225-CT-GC c.9659_9660delinsGC p.K3220S Missense 67/79 - 1
X-31222225-CTT-AAA c.9658_9660delinsTTT p.K3220F Missense 67/79 - 1
X-31222225-CTT-ACA c.9658_9660delinsTGT p.K3220C Missense 67/79 - 1
X-31222225-CTT-ATA c.9658_9660delinsTAT p.K3220Y Missense 67/79 - 1
X-31222225-CTT-ATG c.9658_9660delinsCAT p.K3220H Missense 67/79 - 1
X-31222225-CTT-GTC c.9658_9660delinsGAC p.K3220D Missense 67/79 - 1
X-31222226-T-A c.9659A>T p.K3220M Missense 67/79 - 1
X-31222226-T-C c.9659A>G p.K3220R Missense 67/79 - 1
X-31222226-T-G c.9659A>C p.K3220T Missense 67/79 - 1
X-31222226-TT-AC c.9658_9659delinsGT p.K3220V Missense 67/79 - 1
X-31222226-TT-AG c.9658_9659delinsCT p.K3220L Missense 67/79 - 1
X-31222226-TT-CA c.9658_9659delinsTG p.K3220W Missense 67/79 - 1
X-31222226-TT-CC c.9658_9659delinsGG p.K3220G Missense 67/79 - 1
X-31222226-TT-GC c.9658_9659delinsGC p.K3220A Missense 67/79 - 1
X-31222226-TT-GG c.9658_9659delinsCC p.K3220P Missense 67/79 - 1
X-31222227-T-C c.9658A>G p.K3220E Missense 67/79 - 1
X-31222227-T-G c.9658A>C p.K3220Q Missense 67/79 - 1
X-31222228-GAA-CAT c.9655_9657delinsATG p.F3219M Missense 67/79 - 1
X-31222228-GAA-CTC c.9655_9657delinsGAG p.F3219E Missense 67/79 - 1
X-31222228-GAA-CTT c.9655_9657delinsAAG p.F3219K Missense 67/79 - 1
X-31222228-GAA-TTG c.9655_9657delinsCAA p.F3219Q Missense 67/79 - 1
X-31222228-GA-CC c.9656_9657delinsGG p.F3219W Missense 67/79 - 1
X-31222229-AA-CC c.9655_9656delinsGG p.F3219G Missense 67/79 - 1
X-31222229-AA-CG c.9655_9656delinsCG p.F3219R Missense 67/79 - 1
X-31222229-AA-GC c.9655_9656delinsGC p.F3219A Missense 67/79 - 1
X-31222229-AA-GG c.9655_9656delinsCC p.F3219P Missense 67/79 - 1
X-31222229-AA-GT c.9655_9656delinsAC p.F3219T Missense 67/79 - 1
X-31222229-AA-TC c.9655_9656delinsGA p.F3219D Missense 67/79 - 1
X-31222229-AA-TG c.9655_9656delinsCA p.F3219H Missense 67/79 - 1
X-31222229-AA-TT c.9655_9656inv p.F3219N Missense 67/79 - 1
X-31222229-A-C c.9656T>G p.F3219C Missense 67/79 - 1
X-31222229-A-G c.9656T>C p.F3219S Missense 67/79 - 1
X-31222229-A-T c.9656T>A p.F3219Y Missense 67/79 - 1
X-31222228-G-C c.9657C>G p.F3219L Missense 67/79 - 1
X-31222228-G-T c.9657C>A p.F3219L Missense 67/79 - 1
X-31222230-A-C c.9655T>G p.F3219V Missense 67/79 - 1
X-31222230-A-G c.9655T>C p.F3219L Missense 67/79 - 1
X-31222230-A-T c.9655T>A p.F3219I Missense 67/79 - 1
X-31222231-AAG-CAT c.9652_9654delinsATG p.L3218M Missense 67/79 - 1
X-31222231-AAG-CCA c.9652_9654delinsTGG p.L3218W Missense 67/79 - 1
X-31222231-AAG-CTC c.9652_9654delinsGAG p.L3218E Missense 67/79 - 1
X-31222231-AAG-CTT c.9652_9654inv p.L3218K Missense 67/79 - 1
X-31222231-AA-TT c.9653_9654inv p.L3218Q Missense 67/79 - 1
X-31222232-A-C c.9653T>G p.L3218R Missense 67/79 - 1
X-31222232-A-G c.9653T>C p.L3218P Missense 67/79 - 1
X-31222232-AG-CA c.9652_9653delinsTG p.L3218C Missense 67/79 - 1
X-31222232-AG-CC c.9652_9653delinsGG p.L3218G Missense 67/79 - 1
X-31222232-AG-CT c.9652_9653inv p.L3218S Missense 67/79 - 1
X-31222232-AG-GC c.9652_9653delinsGC p.L3218A Missense 67/79 - 1
X-31222232-AG-GT c.9652_9653delinsAC p.L3218T Missense 67/79 - 1
X-31222232-AG-TA c.9652_9653delinsTA p.L3218Y Missense 67/79 - 1
X-31222232-AG-TC c.9652_9653delinsGA p.L3218D Missense 67/79 - 1
X-31222232-AG-TT c.9652_9653delinsAA p.L3218N Missense 67/79 - 1
X-31222232-A-T c.9653T>A p.L3218H Missense 67/79 - 1
X-31222233-G-A c.9652C>T p.L3218F Missense 67/79 - 1
X-31222233-G-C c.9652C>G p.L3218V Missense 67/79 - 1
X-31222233-G-T c.9652C>A p.L3218I Missense 67/79 - 1
X-31222234-G-T c.9651C>A p.Y3217* Nonsense 67/79 - 1
X-31222234-GT-CC c.9650_9651delinsGG p.Y3217W Missense 67/79 - 1
X-31222235-T-A c.9650A>T p.Y3217F Missense 67/79 - 1
X-31222235-T-C c.9650A>G p.Y3217C Missense 67/79 - 1
X-31222235-T-G c.9650A>C p.Y3217S Missense 67/79 - 1
X-31222792-T-C c.9650-557A>G - IntronicSNV - 66/78 1
X-31224684-A-G c.9649+15T>C - IntronicSNV - 66/78 14
X-31224692-G-A c.9649+7C>T - IntronicSNV - 66/78 1
X-31224694-C-A c.9649+5G>T - IntronicSNV - 66/78 2
X-31224694-C-G c.9649+5G>C - IntronicSNV - 66/78 1
X-31224694-C-T c.9649+5G>A - IntronicSNV - 66/78 1
X-31224695-T-A c.9649+4A>T - IntronicSNV - 66/78 1
X-31224697-A-G c.9649+2T>C - IntronicSNV - 66/78 1
X-31224698-C-T c.9649+1G>A - IntronicSNV - 66/78 3
X-31224699-A-C c.9649T>G p.Y3217D Missense 66/79 - 1
X-31224699-A-G c.9649T>C p.Y3217H Missense 66/79 - 1
X-31224699-A-T c.9649T>A p.Y3217N Missense 66/79 - 4
X-31224700-T-A c.9648A>T p.R3216S Missense 66/79 - 1
X-31224700-TC-CA c.9647_9648delinsTG p.R3216M Missense 66/79 - 1
X-31224700-TC-GT c.9647_9648delinsAC p.R3216N Missense 66/79 - 1
X-31224700-TCT-AAA c.9646_9648delinsTTT p.R3216F Missense 66/79 - 1
X-31224700-TCT-ACA c.9646_9648delinsTGT p.R3216C Missense 66/79 - 1
X-31224700-TCT-ATA c.9646_9648delinsTAT p.R3216Y Missense 66/79 - 1
X-31224700-TCT-ATG c.9646_9648delinsCAT p.R3216H Missense 66/79 - 1
X-31224700-TCT-CCA c.9646_9648delinsTGG p.R3216W Missense 66/79 - 1
X-31224700-TCT-GTC c.9646_9648delinsGAC p.R3216D Missense 66/79 - 1
X-31224700-T-G c.9648A>C p.R3216S Missense 66/79 - 1
X-31224701-C-A c.9647G>T p.R3216I Missense 66/79 - 1
X-31224701-C-G c.9647G>C p.R3216T Missense 66/79 - 1
X-31224701-C-T c.9647G>A p.R3216K Missense 66/79 - 4
X-31224701-CT-AC c.9646_9647delinsGT p.R3216V Missense 66/79 - 1
X-31224701-CT-AG c.9646_9647inv p.R3216L Missense 66/79 - 1
X-31224701-CT-GC c.9646_9647delinsGC p.R3216A Missense 66/79 - 1
X-31224701-CT-GG c.9646_9647delinsCC p.R3216P Missense 66/79 - 1
X-31224701-CT-TC c.9646_9647delinsGA p.R3216E Missense 66/79 - 1
X-31224701-CT-TG c.9646_9647delinsCA p.R3216Q Missense 66/79 - 1
X-31224702-T-C c.9646A>G p.R3216G Missense 66/79 - 1
X-31224703-G-T c.9645C>A p.Y3215* Nonsense 66/79 - 1
X-31224703-GTA-CAT c.9643_9645delinsATG p.Y3215M Missense 66/79 - 1
X-31224703-GTA-CTC c.9643_9645delinsGAG p.Y3215E Missense 66/79 - 1
X-31224703-GTA-CTT c.9643_9645delinsAAG p.Y3215K Missense 66/79 - 1
X-31224703-GTA-TTG c.9643_9645delinsCAA p.Y3215Q Missense 66/79 - 1
X-31224703-GT-CC c.9644_9645delinsGG p.Y3215W Missense 66/79 - 1
X-31224704-T-A c.9644A>T p.Y3215F Missense 66/79 - 1
X-31224704-TA-AC c.9643_9644delinsGT p.Y3215V Missense 66/79 - 1
X-31224704-TA-AG c.9643_9644delinsCT p.Y3215L Missense 66/79 - 1
X-31224704-TA-AT c.9643_9644delinsAT p.Y3215I Missense 66/79 - 1
X-31224704-TA-CC c.9643_9644delinsGG p.Y3215G Missense 66/79 - 1
X-31224704-TA-CG c.9643_9644delinsCG p.Y3215R Missense 66/79 - 1
X-31224704-TA-GC c.9643_9644delinsGC p.Y3215A Missense 66/79 - 1
X-31224704-TA-GG c.9643_9644delinsCC p.Y3215P Missense 66/79 - 1
X-31224704-TA-GT c.9643_9644delinsAC p.Y3215T Missense 66/79 - 1
X-31224704-T-C c.9644A>G p.Y3215C Missense 66/79 - 1
X-31224704-T-G c.9644A>C p.Y3215S Missense 66/79 - 1
X-31224705-A-C c.9643T>G p.Y3215D Missense 66/79 - 1
X-31224705-A-G c.9643T>C p.Y3215H Missense 66/79 - 1
X-31224705-A-T c.9643T>A p.Y3215N Missense 66/79 - 1
X-31224706-C-A c.9642G>T p.K3214N Missense 66/79 - 1
X-31224706-C-G c.9642G>C p.K3214N Missense 66/79 - 1
X-31224706-CT-GA c.9641_9642delinsTC p.K3214I Missense 66/79 - 1
X-31224706-CT-GC c.9641_9642delinsGC p.K3214S Missense 66/79 - 1
X-31224706-CTT-AAA c.9640_9642delinsTTT p.K3214F Missense 66/79 - 1
X-31224706-CTT-ACA c.9640_9642delinsTGT p.K3214C Missense 66/79 - 1
X-31224706-CTT-ATA c.9640_9642delinsTAT p.K3214Y Missense 66/79 - 1
X-31224706-CTT-ATG c.9640_9642delinsCAT p.K3214H Missense 66/79 - 1
X-31224706-CTT-GTC c.9640_9642delinsGAC p.K3214D Missense 66/79 - 1
X-31224707-T-A c.9641A>T p.K3214M Missense 66/79 - 1
X-31224707-T-C c.9641A>G p.K3214R Missense 66/79 - 1
X-31224707-T-G c.9641A>C p.K3214T Missense 66/79 - 1
X-31224707-TT-AC c.9640_9641delinsGT p.K3214V Missense 66/79 - 1
X-31224707-TT-AG c.9640_9641delinsCT p.K3214L Missense 66/79 - 1
X-31224707-TT-CA c.9640_9641delinsTG p.K3214W Missense 66/79 - 1
X-31224707-TT-CC c.9640_9641delinsGG p.K3214G Missense 66/79 - 1
X-31224707-TT-GC c.9640_9641delinsGC p.K3214A Missense 66/79 - 1
X-31224707-TT-GG c.9640_9641delinsCC p.K3214P Missense 66/79 - 1
X-31224708-T-A c.9640A>T p.K3214* Nonsense 66/79 - 4
X-31224708-T-C c.9640A>G p.K3214E Missense 66/79 - 2
X-31224708-T-G c.9640A>C p.K3214Q Missense 66/79 - 1
X-31224709-G-C c.9639C>G p.D3213E Missense 66/79 - 1
X-31224709-G-T c.9639C>A p.D3213E Missense 66/79 - 1
X-31224709-GTC-CAT c.9637_9639delinsATG p.D3213M Missense 66/79 - 1
X-31224709-GTC-CCA c.9637_9639delinsTGG p.D3213W Missense 66/79 - 1
X-31224709-GTC-CTT c.9637_9639delinsAAG p.D3213K Missense 66/79 - 1
X-31224709-GTC-TTG c.9637_9639delinsCAA p.D3213Q Missense 66/79 - 1
X-31224710-T-A c.9638A>T p.D3213V Missense 66/79 - 1
X-31224710-T-C c.9638A>G p.D3213G Missense 66/79 - 1
X-31224710-TC-AA c.9637_9638delinsTT p.D3213F Missense 66/79 - 1
X-31224710-TC-AG c.9637_9638delinsCT p.D3213L Missense 66/79 - 1
X-31224710-TC-AT c.9637_9638delinsAT p.D3213I Missense 66/79 - 1
X-31224710-TC-CA c.9637_9638delinsTG p.D3213C Missense 66/79 - 1
X-31224710-TC-CG c.9637_9638delinsCG p.D3213R Missense 66/79 - 1
X-31224710-TC-CT c.9637_9638delinsAG p.D3213S Missense 66/79 - 1
X-31224710-TC-GG c.9637_9638delinsCC p.D3213P Missense 66/79 - 1
X-31224710-TC-GT c.9637_9638delinsAC p.D3213T Missense 66/79 - 1
X-31224710-T-G c.9638A>C p.D3213A Missense 66/79 - 1
X-31224711-C-A c.9637G>T p.D3213Y Missense 66/79 - 1
X-31224711-C-G c.9637G>C p.D3213H Missense 66/79 - 1
X-31224711-C-T c.9637G>A p.D3213N Missense 66/79 - 1
X-31224712-T-A c.9636A>T p.E3212D Missense 66/79 - 1
X-31224712-T-G c.9636A>C p.E3212D Missense 66/79 - 1
X-31224712-TTC-AAA c.9634_9636delinsTTT p.E3212F Missense 66/79 - 1
X-31224712-TTC-ACA c.9634_9636delinsTGT p.E3212C Missense 66/79 - 1
X-31224712-TTC-ATA c.9634_9636delinsTAT p.E3212Y Missense 66/79 - 1
X-31224712-TTC-ATG c.9634_9636delinsCAT p.E3212H Missense 66/79 - 1
X-31224712-TTC-CAT c.9634_9636delinsATG p.E3212M Missense 66/79 - 1
X-31224712-TTC-CCA c.9634_9636delinsTGG p.E3212W Missense 66/79 - 1
X-31224712-TTC-GTT c.9634_9636delinsAAC p.E3212N Missense 66/79 - 1
X-31224713-T-A c.9635A>T p.E3212V Missense 66/79 - 1
X-31224713-T-C c.9635A>G p.E3212G Missense 66/79 - 1
X-31224713-TC-AG c.9634_9635delinsCT p.E3212L Missense 66/79 - 1
X-31224713-TC-AT c.9634_9635delinsAT p.E3212I Missense 66/79 - 1
X-31224713-TC-CT c.9634_9635delinsAG p.E3212R Missense 66/79 - 1
X-31224713-TC-GA c.9634_9635inv p.E3212S Missense 66/79 - 1
X-31224713-TC-GG c.9634_9635delinsCC p.E3212P Missense 66/79 - 1
X-31224713-TC-GT c.9634_9635delinsAC p.E3212T Missense 66/79 - 1
X-31224713-T-G c.9635A>C p.E3212A Missense 66/79 - 1
X-31224714-C-G c.9634G>C p.E3212Q Missense 66/79 - 1
X-31224714-C-T c.9634G>A p.E3212K Missense 66/79 - 1
X-31224715-C-A c.9633G>T p.L3211F Missense 66/79 - 1
X-31224715-CAA-ATG c.9631_9633delinsCAT p.L3211H Missense 66/79 - 1
X-31224715-CA-AC c.9632_9633delinsGT p.L3211C Missense 66/79 - 1
X-31224715-CAA-GAT c.9631_9633delinsATC p.L3211I Missense 66/79 - 1
X-31224715-CAA-GTC c.9631_9633delinsGAC p.L3211D Missense 66/79 - 1
X-31224715-CAA-GTT c.9631_9633delinsAAC p.L3211N Missense 66/79 - 1
X-31224715-CA-AT c.9632_9633delinsAT p.L3211Y Missense 66/79 - 1
X-31224715-C-G c.9633G>C p.L3211F Missense 66/79 - 1
X-31224716-AA-CC c.9631_9632delinsGG p.L3211G Missense 66/79 - 1
X-31224716-AA-CT c.9631_9632delinsAG p.L3211R Missense 66/79 - 1
X-31224716-AA-GC c.9631_9632delinsGC p.L3211A Missense 66/79 - 1
X-31224716-AA-GG c.9631_9632delinsCC p.L3211P Missense 66/79 - 1
X-31224716-AA-GT c.9631_9632delinsAC p.L3211T Missense 66/79 - 1
X-31224716-AA-TC c.9631_9632delinsGA p.L3211E Missense 66/79 - 1
X-31224716-AA-TG c.9631_9632delinsCA p.L3211Q Missense 66/79 - 1
X-31224716-AA-TT c.9631_9632inv p.L3211K Missense 66/79 - 1
X-31224716-A-C c.9632T>G p.L3211W Missense 66/79 - 1
X-31224716-A-G c.9632T>C p.L3211S Missense 66/79 - 1
X-31224717-A-C c.9631T>G p.L3211V Missense 66/79 - 1
X-31224717-A-T c.9631T>A p.L3211M Missense 66/79 - 1
X-31224718-A-C c.9630T>G p.H3210Q Missense 66/79 - 1
X-31224718-A-T c.9630T>A p.H3210Q Missense 66/79 - 1
X-31224718-ATG-CAT c.9628_9630inv p.H3210M Missense 66/79 - 1
X-31224718-ATG-CCA c.9628_9630delinsTGG p.H3210W Missense 66/79 - 1
X-31224718-ATG-CTC c.9628_9630delinsGAG p.H3210E Missense 66/79 - 1
X-31224718-ATG-CTT c.9628_9630delinsAAG p.H3210K Missense 66/79 - 1
X-31224719-T-A c.9629A>T p.H3210L Missense 66/79 - 1
X-31224719-T-C c.9629A>G p.H3210R Missense 66/79 - 1
X-31224719-T-G c.9629A>C p.H3210P Missense 66/79 - 1
X-31224719-TG-AA c.9628_9629delinsTT p.H3210F Missense 66/79 - 1
X-31224719-TG-AC c.9628_9629delinsGT p.H3210V Missense 66/79 - 1
X-31224719-TG-AT c.9628_9629delinsAT p.H3210I Missense 66/79 - 1
X-31224719-TG-CA c.9628_9629inv p.H3210C Missense 66/79 - 1
X-31224719-TG-CC c.9628_9629delinsGG p.H3210G Missense 66/79 - 1
X-31224719-TG-CT c.9628_9629delinsAG p.H3210S Missense 66/79 - 1
X-31224719-TG-GC c.9628_9629delinsGC p.H3210A Missense 66/79 - 1
X-31224719-TG-GT c.9628_9629delinsAC p.H3210T Missense 66/79 - 1
X-31224720-G-A c.9628C>T p.H3210Y Missense 66/79 - 1
X-31224720-G-C c.9628C>G p.H3210D Missense 66/79 - 1
X-31224720-G-T c.9628C>A p.H3210N Missense 66/79 - 1
X-31224721-TGC-AAA c.9625_9627delinsTTT p.A3209F Missense 66/79 - 1
X-31224721-TGC-ACA c.9625_9627delinsTGT p.A3209C Missense 66/79 - 1
X-31224721-TGC-ATA c.9625_9627delinsTAT p.A3209Y Missense 66/79 - 1
X-31224721-TGC-ATG c.9625_9627delinsCAT p.A3209H Missense 66/79 - 1
X-31224721-TGC-CAT c.9625_9627delinsATG p.A3209M Missense 66/79 - 1
X-31224721-TGC-CCA c.9625_9627delinsTGG p.A3209W Missense 66/79 - 1
X-31224721-TGC-GTT c.9625_9627delinsAAC p.A3209N Missense 66/79 - 1
X-31224721-TG-GT c.9626_9627delinsAC p.A3209D Missense 66/79 - 1
X-31224722-G-A c.9626C>T p.A3209V Missense 66/79 - 1
X-31224722-G-C c.9626C>G p.A3209G Missense 66/79 - 1
X-31224722-GC-AG c.9625_9626delinsCT p.A3209L Missense 66/79 - 1
X-31224722-GC-AT c.9625_9626delinsAT p.A3209I Missense 66/79 - 1
X-31224722-GC-CT c.9625_9626delinsAG p.A3209R Missense 66/79 - 1
X-31224722-GC-TG c.9625_9626delinsCA p.A3209Q Missense 66/79 - 1
X-31224722-GC-TT c.9625_9626delinsAA p.A3209K Missense 66/79 - 1
X-31224722-G-T c.9626C>A p.A3209E Missense 66/79 - 1
X-31224723-C-A c.9625G>T p.A3209S Missense 66/79 - 1
X-31224723-C-G c.9625G>C p.A3209P Missense 66/79 - 1
X-31224723-C-T c.9625G>A p.A3209T Missense 66/79 - 1
X-31224724-T-A c.9624A>T p.K3208N Missense 66/79 - 1
X-31224724-T-G c.9624A>C p.K3208N Missense 66/79 - 1
X-31224724-TT-CA c.9623_9624delinsTG p.K3208M Missense 66/79 - 1
X-31224724-TT-GC c.9623_9624delinsGC p.K3208S Missense 66/79 - 1
X-31224724-TTT-AAA c.9622_9624inv p.K3208F Missense 66/79 - 1
X-31224724-TTT-ACA c.9622_9624delinsTGT p.K3208C Missense 66/79 - 1
X-31224724-TTT-ATA c.9622_9624delinsTAT p.K3208Y Missense 66/79 - 1
X-31224724-TTT-ATG c.9622_9624delinsCAT p.K3208H Missense 66/79 - 1
X-31224724-TTT-CCA c.9622_9624delinsTGG p.K3208W Missense 66/79 - 1
X-31224724-TTT-GTC c.9622_9624delinsGAC p.K3208D Missense 66/79 - 1
X-31224725-T-A c.9623A>T p.K3208I Missense 66/79 - 1
X-31224725-T-C c.9623A>G p.K3208R Missense 66/79 - 1
X-31224725-T-G c.9623A>C p.K3208T Missense 66/79 - 1
X-31224725-TT-AC c.9622_9623delinsGT p.K3208V Missense 66/79 - 1
X-31224725-TT-AG c.9622_9623delinsCT p.K3208L Missense 66/79 - 1
X-31224725-TT-CC c.9622_9623delinsGG p.K3208G Missense 66/79 - 1
X-31224725-TT-GC c.9622_9623delinsGC p.K3208A Missense 66/79 - 1
X-31224725-TT-GG c.9622_9623delinsCC p.K3208P Missense 66/79 - 1
X-31224726-T-C c.9622A>G p.K3208E Missense 66/79 - 1
X-31224726-T-G c.9622A>C p.K3208Q Missense 66/79 - 1
X-31224727-A-C c.9621T>G p.C3207W Missense 66/79 - 1
X-31224727-ACA-CAT c.9619_9621delinsATG p.C3207M Missense 66/79 - 1
X-31224727-ACA-CTC c.9619_9621delinsGAG p.C3207E Missense 66/79 - 1
X-31224727-ACA-CTT c.9619_9621delinsAAG p.C3207K Missense 66/79 - 1
X-31224727-ACA-TTG c.9619_9621delinsCAA p.C3207Q Missense 66/79 - 1
X-31224727-A-T c.9621T>A p.C3207* Nonsense 66/79 - 1
X-31224727-TA-T c.9621del p.C3207* Frameshift 66/79 - 2
X-31224728-C-A c.9620G>T p.C3207F Missense 66/79 - 1
X-31224728-CA-AC c.9619_9620delinsGT p.C3207V Missense 66/79 - 1
X-31224728-CA-AG c.9619_9620delinsCT p.C3207L Missense 66/79 - 1
X-31224728-CA-AT c.9619_9620delinsAT p.C3207I Missense 66/79 - 1
X-31224728-CA-GC c.9619_9620delinsGC p.C3207A Missense 66/79 - 1
X-31224728-CA-GG c.9619_9620delinsCC p.C3207P Missense 66/79 - 1
X-31224728-CA-GT c.9619_9620delinsAC p.C3207T Missense 66/79 - 1
X-31224728-CA-TC c.9619_9620delinsGA p.C3207D Missense 66/79 - 1
X-31224728-CA-TG c.9619_9620inv p.C3207H Missense 66/79 - 1
X-31224728-CA-TT c.9619_9620delinsAA p.C3207N Missense 66/79 - 1
X-31224728-C-T c.9620G>A p.C3207Y Missense 66/79 - 1
X-31224728-C-G c.9620G>C p.C3207S Missense 66/79 - 1
X-31224729-A-C c.9619T>G p.C3207G Missense 66/79 - 1
X-31224729-A-G c.9619T>C p.C3207R Missense 66/79 - 1
X-31224729-A-T c.9619T>A p.C3207S Missense 66/79 - 1
X-31224730-CA-AT c.9617_9618delinsAT p.L3206H Missense 66/79 - 1
X-31224730-CAG-AAA c.9616_9618delinsTTT p.L3206F Missense 66/79 - 1
X-31224730-CAG-ACA c.9616_9618delinsTGT p.L3206C Missense 66/79 - 1
X-31224730-CAG-ATA c.9616_9618delinsTAT p.L3206Y Missense 66/79 - 1
X-31224730-CAG-GAT c.9616_9618delinsATC p.L3206I Missense 66/79 - 1
X-31224730-CAG-GTC c.9616_9618delinsGAC p.L3206D Missense 66/79 - 1
X-31224730-CAG-GTT c.9616_9618delinsAAC p.L3206N Missense 66/79 - 1
X-31224731-A-C c.9617T>G p.L3206R Missense 66/79 - 1
X-31224731-A-G c.9617T>C p.L3206P Missense 66/79 - 1
X-31224731-AG-CA c.9616_9617delinsTG p.L3206W Missense 66/79 - 1
X-31224731-AG-CC c.9616_9617delinsGG p.L3206G Missense 66/79 - 1
X-31224731-AG-GA c.9616_9617delinsTC p.L3206S Missense 66/79 - 1
X-31224731-AG-GC c.9616_9617delinsGC p.L3206A Missense 66/79 - 1
X-31224731-AG-GT c.9616_9617delinsAC p.L3206T Missense 66/79 - 1
X-31224731-AG-TC c.9616_9617delinsGA p.L3206E Missense 66/79 - 1
X-31224731-AG-TT c.9616_9617delinsAA p.L3206K Missense 66/79 - 1
X-31224731-A-T c.9617T>A p.L3206Q Missense 66/79 - 1
X-31224732-G-C c.9616C>G p.L3206V Missense 66/79 - 1
X-31224732-G-T c.9616C>A p.L3206M Missense 66/79 - 1
X-31224733-GGA-CAT c.9613_9615delinsATG p.S3205M Missense 66/79 - 1
X-31224733-GGA-CTC c.9613_9615delinsGAG p.S3205E Missense 66/79 - 1
X-31224733-GGA-CTT c.9613_9615delinsAAG p.S3205K Missense 66/79 - 1
X-31224733-GGA-TTG c.9613_9615delinsCAA p.S3205Q Missense 66/79 - 1
X-31224733-GG-CC c.9614_9615inv p.S3205W Missense 66/79 - 1
X-31224734-G-A c.9614C>T p.S3205F Missense 66/79 - 5
X-31224734-GA-AC c.9613_9614delinsGT p.S3205V Missense 66/79 - 1
X-31224734-GA-AG c.9613_9614delinsCT p.S3205L Missense 66/79 - 1
X-31224734-GA-AT c.9613_9614delinsAT p.S3205I Missense 66/79 - 1
X-31224734-GA-CC c.9613_9614delinsGG p.S3205G Missense 66/79 - 1
X-31224734-GA-CG c.9613_9614delinsCG p.S3205R Missense 66/79 - 1
X-31224734-GA-TC c.9613_9614inv p.S3205D Missense 66/79 - 1
X-31224734-GA-TG c.9613_9614delinsCA p.S3205H Missense 66/79 - 1
X-31224734-GA-TT c.9613_9614delinsAA p.S3205N Missense 66/79 - 1
X-31224734-G-C c.9614C>G p.S3205C Missense 66/79 - 1
X-31224734-G-T c.9614C>A p.S3205Y Missense 66/79 - 1
X-31224735-A-C c.9613T>G p.S3205A Missense 66/79 - 1
X-31224735-A-G c.9613T>C p.S3205P Missense 66/79 - 1
X-31224735-A-T c.9613T>A p.S3205T Missense 66/79 - 1
X-31224736-AA-CC c.9611_9612delinsGG p.I3204R Missense 66/79 - 1
X-31224736-AA-CT c.9611_9612delinsAG p.I3204K Missense 66/79 - 1
X-31224736-AAT-CCA c.9610_9612delinsTGG p.I3204W Missense 66/79 - 1
X-31224736-AAT-CTC c.9610_9612delinsGAG p.I3204E Missense 66/79 - 1
X-31224736-AAT-TTG c.9610_9612delinsCAA p.I3204Q Missense 66/79 - 1
X-31224736-A-C c.9612T>G p.I3204M Missense 66/79 - 1
X-31224737-A-C c.9611T>G p.I3204S Missense 66/79 - 1
X-31224737-A-G c.9611T>C p.I3204T Missense 66/79 - 1
X-31224737-A-T c.9611T>A p.I3204N Missense 66/79 - 1
X-31224737-AT-CA c.9610_9611delinsTG p.I3204C Missense 66/79 - 1
X-31224737-AT-CC c.9610_9611delinsGG p.I3204G Missense 66/79 - 1
X-31224737-AT-GC c.9610_9611delinsGC p.I3204A Missense 66/79 - 1
X-31224737-AT-GG c.9610_9611delinsCC p.I3204P Missense 66/79 - 1
X-31224737-AT-TA c.9610_9611delinsTA p.I3204Y Missense 66/79 - 1
X-31224737-AT-TC c.9610_9611delinsGA p.I3204D Missense 66/79 - 1
X-31224737-AT-TG c.9610_9611delinsCA p.I3204H Missense 66/79 - 1
X-31224738-T-A c.9610A>T p.I3204F Missense 66/79 - 1
X-31224738-T-C c.9610A>G p.I3204V Missense 66/79 - 1
X-31224738-T-G c.9610A>C p.I3204L Missense 66/79 - 1
X-31224739-GA-CC c.9608_9609delinsGG p.I3203R Missense 66/79 - 1
X-31224739-GA-CT c.9608_9609delinsAG p.I3203K Missense 66/79 - 1
X-31224739-GAT-CCA c.9607_9609delinsTGG p.I3203W Missense 66/79 - 1
X-31224739-GAT-CTC c.9607_9609delinsGAG p.I3203E Missense 66/79 - 1
X-31224739-GAT-TTG c.9607_9609delinsCAA p.I3203Q Missense 66/79 - 1
X-31224739-G-C c.9609C>G p.I3203M Missense 66/79 - 1
X-31224740-A-C c.9608T>G p.I3203S Missense 66/79 - 1
X-31224740-A-G c.9608T>C p.I3203T Missense 66/79 - 1
X-31224740-A-T c.9608T>A p.I3203N Missense 66/79 - 1
X-31224740-AT-CA c.9607_9608delinsTG p.I3203C Missense 66/79 - 1
X-31224740-AT-CC c.9607_9608delinsGG p.I3203G Missense 66/79 - 1
X-31224740-AT-GC c.9607_9608delinsGC p.I3203A Missense 66/79 - 1
X-31224740-AT-GG c.9607_9608delinsCC p.I3203P Missense 66/79 - 1
X-31224740-AT-TA c.9607_9608delinsTA p.I3203Y Missense 66/79 - 1
X-31224740-AT-TC c.9607_9608delinsGA p.I3203D Missense 66/79 - 1
X-31224740-AT-TG c.9607_9608delinsCA p.I3203H Missense 66/79 - 1
X-31224741-T-A c.9607A>T p.I3203F Missense 66/79 - 1
X-31224741-T-C c.9607A>G p.I3203V Missense 66/79 - 1
X-31224741-T-G c.9607A>C p.I3203L Missense 66/79 - 1
X-31224742-GCC-CAT c.9604_9606delinsATG p.G3202M Missense 66/79 - 1
X-31224742-GCC-CCA c.9604_9606delinsTGG p.G3202W Missense 66/79 - 1
X-31224742-GCC-CTT c.9604_9606delinsAAG p.G3202K Missense 66/79 - 1
X-31224742-GC-CT c.9605_9606delinsAG p.G3202E Missense 66/79 - 1
X-31224742-GCC-TTG c.9604_9606delinsCAA p.G3202Q Missense 66/79 - 1
X-31224743-C-A c.9605G>T p.G3202V Missense 66/79 - 1
X-31224743-CC-AA c.9604_9605delinsTT p.G3202F Missense 66/79 - 1
X-31224743-CC-AG c.9604_9605delinsCT p.G3202L Missense 66/79 - 1
X-31224743-CC-AT c.9604_9605delinsAT p.G3202I Missense 66/79 - 1
X-31224743-CC-GG c.9604_9605inv p.G3202P Missense 66/79 - 1
X-31224743-CC-GT c.9604_9605delinsAC p.G3202T Missense 66/79 - 1
X-31224743-CC-TA c.9604_9605delinsTA p.G3202Y Missense 66/79 - 1
X-31224743-CC-TG c.9604_9605delinsCA p.G3202H Missense 66/79 - 1
X-31224743-CC-TT c.9604_9605delinsAA p.G3202N Missense 66/79 - 1
X-31224743-C-G c.9605G>C p.G3202A Missense 66/79 - 1
X-31224743-C-T c.9605G>A p.G3202D Missense 66/79 - 1
X-31224744-C-A c.9604G>T p.G3202C Missense 66/79 - 1
X-31224744-C-G c.9604G>C p.G3202R Missense 66/79 - 1
X-31224744-C-T c.9604G>A p.G3202S Missense 66/79 - 1
X-31224745-AG-CA c.9602_9603delinsTG p.T3201M Missense 66/79 - 1
X-31224745-AG-CC c.9602_9603delinsGG p.T3201R Missense 66/79 - 1
X-31224745-AG-CT c.9602_9603inv p.T3201K Missense 66/79 - 1
X-31224745-AGT-CCA c.9601_9603delinsTGG p.T3201W Missense 66/79 - 1
X-31224745-AGT-CTC c.9601_9603delinsGAG p.T3201E Missense 66/79 - 1
X-31224745-AGT-TTG c.9601_9603delinsCAA p.T3201Q Missense 66/79 - 1
X-31224746-G-A c.9602C>T p.T3201I Missense 66/79 - 1
X-31224746-G-C c.9602C>G p.T3201S Missense 66/79 - 1
X-31224746-G-T c.9602C>A p.T3201N Missense 66/79 - 1
X-31224746-GT-AA c.9601_9602delinsTT p.T3201F Missense 66/79 - 1
X-31224746-GT-AC c.9601_9602inv p.T3201V Missense 66/79 - 1
X-31224746-GT-AG c.9601_9602delinsCT p.T3201L Missense 66/79 - 1
X-31224746-GT-CA c.9601_9602delinsTG p.T3201C Missense 66/79 - 1
X-31224746-GT-CC c.9601_9602delinsGG p.T3201G Missense 66/79 - 1
X-31224746-GT-TA c.9601_9602delinsTA p.T3201Y Missense 66/79 - 1
X-31224746-GT-TC c.9601_9602delinsGA p.T3201D Missense 66/79 - 1
X-31224746-GT-TG c.9601_9602delinsCA p.T3201H Missense 66/79 - 1
X-31224747-T-A c.9601A>T p.T3201S Missense 66/79 - 1
X-31224747-T-C c.9601A>G p.T3201A Missense 66/79 - 1
X-31224747-T-G c.9601A>C p.T3201P Missense 66/79 - 1
X-31224748-T-A c.9600A>T p.K3200N Missense 66/79 - 1
X-31224748-T-G c.9600A>C p.K3200N Missense 66/79 - 1
X-31224748-TT-CA c.9599_9600delinsTG p.K3200M Missense 66/79 - 1
X-31224748-TT-GC c.9599_9600delinsGC p.K3200S Missense 66/79 - 1
X-31224748-TTT-AAA c.9598_9600inv p.K3200F Missense 66/79 - 1
X-31224748-TTT-ACA c.9598_9600delinsTGT p.K3200C Missense 66/79 - 1
X-31224748-TTT-ATA c.9598_9600delinsTAT p.K3200Y Missense 66/79 - 1
X-31224748-TTT-ATG c.9598_9600delinsCAT p.K3200H Missense 66/79 - 1
X-31224748-TTT-CCA c.9598_9600delinsTGG p.K3200W Missense 66/79 - 1
X-31224748-TTT-GTC c.9598_9600delinsGAC p.K3200D Missense 66/79 - 1
X-31224749-T-A c.9599A>T p.K3200I Missense 66/79 - 1
X-31224749-T-C c.9599A>G p.K3200R Missense 66/79 - 1
X-31224749-T-G c.9599A>C p.K3200T Missense 66/79 - 5
X-31224749-TT-AC c.9598_9599delinsGT p.K3200V Missense 66/79 - 1
X-31224749-TT-AG c.9598_9599delinsCT p.K3200L Missense 66/79 - 1
X-31224749-TT-CC c.9598_9599delinsGG p.K3200G Missense 66/79 - 1
X-31224749-TT-GC c.9598_9599delinsGC p.K3200A Missense 66/79 - 1
X-31224749-TT-GG c.9598_9599delinsCC p.K3200P Missense 66/79 - 1
X-31224750-T-C c.9598A>G p.K3200E Missense 66/79 - 1
X-31224750-T-G c.9598A>C p.K3200Q Missense 66/79 - 1
X-31224751-AAA-CAT c.9595_9597delinsATG p.F3199M Missense 66/79 - 1
X-31224751-AAA-CTC c.9595_9597delinsGAG p.F3199E Missense 66/79 - 1
X-31224751-AAA-CTT c.9595_9597delinsAAG p.F3199K Missense 66/79 - 1
X-31224751-AAA-TTG c.9595_9597delinsCAA p.F3199Q Missense 66/79 - 1
X-31224751-AA-CC c.9596_9597delinsGG p.F3199W Missense 66/79 - 1
X-31224752-AA-CC c.9595_9596delinsGG p.F3199G Missense 66/79 - 1
X-31224752-AA-CG c.9595_9596delinsCG p.F3199R Missense 66/79 - 1
X-31224752-AA-GC c.9595_9596delinsGC p.F3199A Missense 66/79 - 1
X-31224752-AA-GG c.9595_9596delinsCC p.F3199P Missense 66/79 - 1
X-31224752-AA-GT c.9595_9596delinsAC p.F3199T Missense 66/79 - 1
X-31224752-AA-TC c.9595_9596delinsGA p.F3199D Missense 66/79 - 1
X-31224752-AA-TG c.9595_9596delinsCA p.F3199H Missense 66/79 - 1
X-31224752-AA-TT c.9595_9596inv p.F3199N Missense 66/79 - 1
X-31224752-A-C c.9596T>G p.F3199C Missense 66/79 - 1
X-31224752-A-G c.9596T>C p.F3199S Missense 66/79 - 1
X-31224752-A-T c.9596T>A p.F3199Y Missense 66/79 - 1
X-31224751-A-C c.9597T>G p.F3199L Missense 66/79 - 1
X-31224751-A-T c.9597T>A p.F3199L Missense 66/79 - 1
X-31224753-A-C c.9595T>G p.F3199V Missense 66/79 - 1
X-31224753-A-G c.9595T>C p.F3199L Missense 66/79 - 1
X-31224753-A-T c.9595T>A p.F3199I Missense 66/79 - 1
X-31224754-AGA-CAT c.9592_9594delinsATG p.S3198M Missense 66/79 - 1
X-31224754-AGA-CTC c.9592_9594delinsGAG p.S3198E Missense 66/79 - 1
X-31224754-AGA-CTT c.9592_9594delinsAAG p.S3198K Missense 66/79 - 1
X-31224754-AGA-TTG c.9592_9594delinsCAA p.S3198Q Missense 66/79 - 1
X-31224754-AG-CC c.9593_9594delinsGG p.S3198W Missense 66/79 - 1
X-31224755-G-A c.9593C>T p.S3198F Missense 66/79 - 2
X-31224755-GA-AC c.9592_9593delinsGT p.S3198V Missense 66/79 - 1
X-31224755-GA-AG c.9592_9593delinsCT p.S3198L Missense 66/79 - 1
X-31224755-GA-AT c.9592_9593delinsAT p.S3198I Missense 66/79 - 1
X-31224755-GA-CC c.9592_9593delinsGG p.S3198G Missense 66/79 - 1
X-31224755-GA-CG c.9592_9593delinsCG p.S3198R Missense 66/79 - 1
X-31224755-GA-TC c.9592_9593inv p.S3198D Missense 66/79 - 1
X-31224755-GA-TG c.9592_9593delinsCA p.S3198H Missense 66/79 - 1
X-31224755-GA-TT c.9592_9593delinsAA p.S3198N Missense 66/79 - 1
X-31224755-G-C c.9593C>G p.S3198C Missense 66/79 - 1
X-31224755-G-T c.9593C>A p.S3198Y Missense 66/79 - 1
X-31224756-A-C c.9592T>G p.S3198A Missense 66/79 - 1
X-31224756-A-G c.9592T>C p.S3198P Missense 66/79 - 1
X-31224756-A-T c.9592T>A p.S3198T Missense 66/79 - 1
X-31224757-CA-AT c.9590_9591delinsAT p.L3197H Missense 66/79 - 1
X-31224757-CAG-AAA c.9589_9591delinsTTT p.L3197F Missense 66/79 - 1
X-31224757-CAG-ACA c.9589_9591delinsTGT p.L3197C Missense 66/79 - 1
X-31224757-CAG-ATA c.9589_9591delinsTAT p.L3197Y Missense 66/79 - 1
X-31224757-CAG-GAT c.9589_9591delinsATC p.L3197I Missense 66/79 - 1
X-31224757-CAG-GTC c.9589_9591delinsGAC p.L3197D Missense 66/79 - 1
X-31224757-CAG-GTT c.9589_9591delinsAAC p.L3197N Missense 66/79 - 1
X-31224758-A-C c.9590T>G p.L3197R Missense 66/79 - 1
X-31224758-A-G c.9590T>C p.L3197P Missense 66/79 - 1
X-31224758-AG-CA c.9589_9590delinsTG p.L3197W Missense 66/79 - 1
X-31224758-AG-CC c.9589_9590delinsGG p.L3197G Missense 66/79 - 1
X-31224758-AG-GA c.9589_9590delinsTC p.L3197S Missense 66/79 - 1
X-31224758-AG-GC c.9589_9590delinsGC p.L3197A Missense 66/79 - 1
X-31224758-AG-GT c.9589_9590delinsAC p.L3197T Missense 66/79 - 1
X-31224758-AG-TC c.9589_9590delinsGA p.L3197E Missense 66/79 - 1
X-31224758-AG-TT c.9589_9590delinsAA p.L3197K Missense 66/79 - 1
X-31224758-A-T c.9590T>A p.L3197Q Missense 66/79 - 1
X-31224759-G-A c.9589C>T p.L3197= Synonymous 66/79 - 1
X-31224759-G-C c.9589C>G p.L3197V Missense 66/79 - 1
X-31224759-G-T c.9589C>A p.L3197M Missense 66/79 - 1
X-31224760-GAC-CAT c.9586_9588delinsATG p.V3196M Missense 66/79 - 1
X-31224760-GAC-CCA c.9586_9588delinsTGG p.V3196W Missense 66/79 - 1
X-31224760-GAC-CTT c.9586_9588delinsAAG p.V3196K Missense 66/79 - 1
X-31224760-GA-CT c.9587_9588delinsAG p.V3196E Missense 66/79 - 1
X-31224760-GAC-TTG c.9586_9588delinsCAA p.V3196Q Missense 66/79 - 1
X-31224761-A-C c.9587T>G p.V3196G Missense 66/79 - 1
X-31224761-AC-CA c.9586_9587delinsTG p.V3196C Missense 66/79 - 1
X-31224761-AC-CG c.9586_9587delinsCG p.V3196R Missense 66/79 - 1
X-31224761-AC-CT c.9586_9587delinsAG p.V3196S Missense 66/79 - 1
X-31224761-AC-GG c.9586_9587delinsCC p.V3196P Missense 66/79 - 1
X-31224761-AC-GT c.9586_9587inv p.V3196T Missense 66/79 - 1
X-31224761-AC-TA c.9586_9587delinsTA p.V3196Y Missense 66/79 - 1
X-31224761-AC-TG c.9586_9587delinsCA p.V3196H Missense 66/79 - 1
X-31224761-AC-TT c.9586_9587delinsAA p.V3196N Missense 66/79 - 1
X-31224761-A-G c.9587T>C p.V3196A Missense 66/79 - 1
X-31224761-A-T c.9587T>A p.V3196D Missense 66/79 - 1
X-31224762-C-A c.9586G>T p.V3196F Missense 66/79 - 1
X-31224762-C-G c.9586G>C p.V3196L Missense 66/79 - 1
X-31224762-C-T c.9586G>A p.V3196I Missense 66/79 - 1
X-31224763-ACG-CAT c.9583_9585delinsATG p.R3195M Missense 66/79 - 1
X-31224763-ACG-CCA c.9583_9585delinsTGG p.R3195W Missense 66/79 - 1
X-31224763-ACG-CTC c.9583_9585delinsGAG p.R3195E Missense 66/79 - 1
X-31224763-ACG-CTT c.9583_9585delinsAAG p.R3195K Missense 66/79 - 1
X-31224763-AC-TT c.9584_9585delinsAA p.R3195Q Missense 66/79 - 1
X-31224764-C-A c.9584G>T p.R3195L Missense 66/79 - 1
X-31224764-C-CAT c.9583_9584insAT p.R3195Hfs*89 Frameshift 66/79 - 1
X-31224764-C-G c.9584G>C p.R3195P Missense 66/79 - 3
X-31224764-CG-AA c.9583_9584delinsTT p.R3195F Missense 66/79 - 1
X-31224764-CG-AC c.9583_9584delinsGT p.R3195V Missense 66/79 - 1
X-31224764-CG-AT c.9583_9584delinsAT p.R3195I Missense 66/79 - 1
X-31224764-CG-GC c.9583_9584delinsGC p.R3195A Missense 66/79 - 1
X-31224764-CG-GT c.9583_9584delinsAC p.R3195T Missense 66/79 - 1
X-31224764-CG-TA c.9583_9584delinsTA p.R3195Y Missense 66/79 - 1
X-31224764-CG-TC c.9583_9584delinsGA p.R3195D Missense 66/79 - 1
X-31224764-CG-TT c.9583_9584delinsAA p.R3195N Missense 66/79 - 1
X-31224764-C-T c.9584G>A p.R3195H Missense 66/79 - 8
X-31224765-G-A c.9583C>T p.R3195C Missense 66/79 - 1
X-31224765-G-C c.9583C>G p.R3195G Missense 66/79 - 1
X-31224765-G-T c.9583C>A p.R3195S Missense 66/79 - 1
X-31224766-GA-CC c.9581_9582delinsGG p.I3194R Missense 66/79 - 1
X-31224766-GA-CT c.9581_9582delinsAG p.I3194K Missense 66/79 - 1
X-31224766-GAT-CCA c.9580_9582delinsTGG p.I3194W Missense 66/79 - 1
X-31224766-GAT-CTC c.9580_9582delinsGAG p.I3194E Missense 66/79 - 1
X-31224766-GAT-TTG c.9580_9582delinsCAA p.I3194Q Missense 66/79 - 1
X-31224766-G-C c.9582C>G p.I3194M Missense 66/79 - 1
X-31224766-G-T c.9582C>A p.I3194= Synonymous 66/79 - 1
X-31224767-A-C c.9581T>G p.I3194S Missense 66/79 - 1
X-31224767-A-G c.9581T>C p.I3194T Missense 66/79 - 1
X-31224767-A-T c.9581T>A p.I3194N Missense 66/79 - 1
X-31224767-AT-CA c.9580_9581delinsTG p.I3194C Missense 66/79 - 1
X-31224767-AT-CC c.9580_9581delinsGG p.I3194G Missense 66/79 - 1
X-31224767-AT-GC c.9580_9581delinsGC p.I3194A Missense 66/79 - 1
X-31224767-AT-GG c.9580_9581delinsCC p.I3194P Missense 66/79 - 1
X-31224767-AT-TA c.9580_9581delinsTA p.I3194Y Missense 66/79 - 1
X-31224767-AT-TC c.9580_9581delinsGA p.I3194D Missense 66/79 - 1
X-31224767-AT-TG c.9580_9581delinsCA p.I3194H Missense 66/79 - 1
X-31224768-T-A c.9580A>T p.I3194F Missense 66/79 - 1
X-31224768-T-C c.9580A>G p.I3194V Missense 66/79 - 1
X-31224768-T-G c.9580A>C p.I3194L Missense 66/79 - 2
X-31224769-C-A c.9579G>T p.R3193S Missense 66/79 - 1
X-31224769-CC-GA c.9578_9579delinsTC p.R3193I Missense 66/79 - 1
X-31224769-CC-GT c.9578_9579delinsAC p.R3193N Missense 66/79 - 1
X-31224769-CCT-AAA c.9577_9579delinsTTT p.R3193F Missense 66/79 - 1
X-31224769-CCT-ACA c.9577_9579delinsTGT p.R3193C Missense 66/79 - 1
X-31224769-CCT-ATA c.9577_9579delinsTAT p.R3193Y Missense 66/79 - 1
X-31224769-CCT-ATG c.9577_9579delinsCAT p.R3193H Missense 66/79 - 1
X-31224769-CCT-GTC c.9577_9579delinsGAC p.R3193D Missense 66/79 - 1
X-31224769-C-G c.9579G>C p.R3193S Missense 66/79 - 1
X-31224769-C-T c.9579G>A p.R3193= Synonymous 66/79 - 1
X-31224770-C-A c.9578G>T p.R3193M Missense 66/79 - 1
X-31224770-C-G c.9578G>C p.R3193T Missense 66/79 - 1
X-31224770-C-T c.9578G>A p.R3193K Missense 66/79 - 1
X-31224770-CT-AC c.9577_9578delinsGT p.R3193V Missense 66/79 - 1
X-31224770-CT-AG c.9577_9578inv p.R3193L Missense 66/79 - 1
X-31224770-CT-GC c.9577_9578delinsGC p.R3193A Missense 66/79 - 1
X-31224770-CT-GG c.9577_9578delinsCC p.R3193P Missense 66/79 - 1
X-31224770-CT-TC c.9577_9578delinsGA p.R3193E Missense 66/79 - 1
X-31224770-CT-TG c.9577_9578delinsCA p.R3193Q Missense 66/79 - 1
X-31224771-T-A c.9577A>T p.R3193W Missense 66/79 - 1
X-31224771-T-C c.9577A>G p.R3193G Missense 66/79 - 1
X-31224772-CCC-AAA c.9574_9576delinsTTT p.G3192F Missense 66/79 - 1
X-31224772-CCC-ACA c.9574_9576delinsTGT p.G3192C Missense 66/79 - 1
X-31224772-CCC-ATA c.9574_9576delinsTAT p.G3192Y Missense 66/79 - 1
X-31224772-CCC-ATG c.9574_9576delinsCAT p.G3192H Missense 66/79 - 1
X-31224772-CCC-GAT c.9574_9576delinsATC p.G3192I Missense 66/79 - 1
X-31224772-CCC-GCT c.9574_9576delinsAGC p.G3192S Missense 66/79 - 1
X-31224772-CCC-GTT c.9574_9576delinsAAC p.G3192N Missense 66/79 - 1
X-31224772-CC-GT c.9575_9576delinsAC p.G3192D Missense 66/79 - 1
X-31224773-C-A c.9575G>T p.G3192V Missense 66/79 - 1
X-31224773-CC-AG c.9574_9575delinsCT p.G3192L Missense 66/79 - 1
X-31224773-CC-AT c.9574_9575delinsAT p.G3192M Missense 66/79 - 1
X-31224773-CC-GG c.9574_9575inv p.G3192P Missense 66/79 - 1
X-31224773-CC-GT c.9574_9575delinsAC p.G3192T Missense 66/79 - 1
X-31224773-CC-TG c.9574_9575delinsCA p.G3192Q Missense 66/79 - 1
X-31224773-CC-TT c.9574_9575delinsAA p.G3192K Missense 66/79 - 1
X-31224773-C-G c.9575G>C p.G3192A Missense 66/79 - 1
X-31224773-C-T c.9575G>A p.G3192E Missense 66/79 - 1
X-31224774-C-A c.9574G>T p.G3192W Missense 66/79 - 4
X-31224774-C-G c.9574G>C p.G3192R Missense 66/79 - 1
X-31224774-C-T c.9574G>A p.G3192R Missense 66/79 - 1
X-31224775-TG-CA c.9572_9573inv p.T3191M Missense 66/79 - 1
X-31224775-TG-GT c.9572_9573delinsAC p.T3191N Missense 66/79 - 1
X-31224775-TGT-AAA c.9571_9573delinsTTT p.T3191F Missense 66/79 - 1
X-31224775-TGT-ACA c.9571_9573inv p.T3191C Missense 66/79 - 1
X-31224775-TGT-ATA c.9571_9573delinsTAT p.T3191Y Missense 66/79 - 1
X-31224775-TGT-ATG c.9571_9573delinsCAT p.T3191H Missense 66/79 - 1
X-31224775-TGT-CCA c.9571_9573delinsTGG p.T3191W Missense 66/79 - 1
X-31224775-TGT-GTC c.9571_9573delinsGAC p.T3191D Missense 66/79 - 1
X-31224776-G-A c.9572C>T p.T3191I Missense 66/79 - 1
X-31224776-G-C c.9572C>G p.T3191R Missense 66/79 - 1
X-31224776-G-T c.9572C>A p.T3191K Missense 66/79 - 1
X-31224776-GT-AC c.9571_9572inv p.T3191V Missense 66/79 - 1
X-31224776-GT-AG c.9571_9572delinsCT p.T3191L Missense 66/79 - 1
X-31224776-GT-CC c.9571_9572delinsGG p.T3191G Missense 66/79 - 1
X-31224776-GT-TC c.9571_9572delinsGA p.T3191E Missense 66/79 - 1
X-31224776-GT-TG c.9571_9572delinsCA p.T3191Q Missense 66/79 - 1
X-31224777-T-A c.9571A>T p.T3191S Missense 66/79 - 1
X-31224777-T-C c.9571A>G p.T3191A Missense 66/79 - 1
X-31224777-T-G c.9571A>C p.T3191P Missense 66/79 - 1
X-31224778-TC-AT c.9569_9570delinsAT p.R3190H Missense 66/79 - 1
X-31224778-TCG-AAA c.9568_9570delinsTTT p.R3190F Missense 66/79 - 1
X-31224778-TCG-ACA c.9568_9570delinsTGT p.R3190C Missense 66/79 - 1
X-31224778-TCG-ATA c.9568_9570delinsTAT p.R3190Y Missense 66/79 - 1
X-31224778-TCG-CAT c.9568_9570delinsATG p.R3190M Missense 66/79 - 1
X-31224778-TCG-CCA c.9568_9570delinsTGG p.R3190W Missense 66/79 - 1
X-31224778-TCG-GCT c.9568_9570delinsAGC p.R3190S Missense 66/79 - 1
X-31224778-TCG-GTC c.9568_9570delinsGAC p.R3190D Missense 66/79 - 1
X-31224778-TCG-GTT c.9568_9570delinsAAC p.R3190N Missense 66/79 - 1
X-31224779-C-A c.9569G>T p.R3190L Missense 66/79 - 1
X-31224779-C-G c.9569G>C p.R3190P Missense 66/79 - 2
X-31224779-CG-AC c.9568_9569delinsGT p.R3190V Missense 66/79 - 1
X-31224779-CG-AT c.9568_9569delinsAT p.R3190I Missense 66/79 - 1
X-31224779-CG-GC c.9568_9569delinsGC p.R3190A Missense 66/79 - 1
X-31224779-CG-GT c.9568_9569delinsAC p.R3190T Missense 66/79 - 1
X-31224779-CG-TC c.9568_9569delinsGA p.R3190E Missense 66/79 - 1
X-31224779-CG-TT c.9568_9569delinsAA p.R3190K Missense 66/79 - 1
X-31224779-C-T c.9569G>A p.R3190Q Missense 66/79 - 5
X-31224780-G-A c.9568C>T p.R3190* Nonsense 66/79 - 20
X-31224780-G-C c.9568C>G p.R3190G Missense 66/79 - 1
X-31224781-TCC-AAA c.9565_9567delinsTTT p.G3189F Missense 66/79 - 1
X-31224781-TCC-ACA c.9565_9567delinsTGT p.G3189C Missense 66/79 - 1
X-31224781-TCC-ATA c.9565_9567delinsTAT p.G3189Y Missense 66/79 - 1
X-31224781-TCC-ATG c.9565_9567delinsCAT p.G3189H Missense 66/79 - 1
X-31224781-TCC-CAT c.9565_9567delinsATG p.G3189M Missense 66/79 - 1
X-31224781-TCC-CCA c.9565_9567delinsTGG p.G3189W Missense 66/79 - 1
X-31224781-TCC-GCT c.9565_9567delinsAGC p.G3189S Missense 66/79 - 1
X-31224781-TCC-GTT c.9565_9567delinsAAC p.G3189N Missense 66/79 - 1
X-31224781-TC-GT c.9566_9567delinsAC p.G3189D Missense 66/79 - 1
X-31224782-C-A c.9566G>T p.G3189V Missense 66/79 - 1
X-31224782-CC-AG c.9565_9566delinsCT p.G3189L Missense 66/79 - 1
X-31224782-CC-AT c.9565_9566delinsAT p.G3189I Missense 66/79 - 1
X-31224782-CC-GG c.9565_9566inv p.G3189P Missense 66/79 - 1
X-31224782-CC-GT c.9565_9566delinsAC p.G3189T Missense 66/79 - 1
X-31224782-CC-TG c.9565_9566delinsCA p.G3189Q Missense 66/79 - 1
X-31224782-CC-TT c.9565_9566delinsAA p.G3189K Missense 66/79 - 1
X-31224782-C-G c.9566G>C p.G3189A Missense 66/79 - 1
X-31224782-C-T c.9566G>A p.G3189E Missense 66/79 - 2
X-31224783-C-G c.9565G>C p.G3189R Missense 66/79 - 1
X-31224783-C-T c.9565G>A p.G3189R Missense 66/79 - 1
X-31224784-C-A c.9564G>T p.T3188= Synonymous 66/79 - 2
X-31224784-C-G c.9564G>C p.T3188= Synonymous 66/79 - 2
X-31224784-C-T c.9564G>A p.T3188= Synonymous 66/79 - 2
X-31224785-C-T c.9564-1G>A - IntronicSNV - 65/78 1
X-31224881-G-A c.9564-97C>T - IntronicSNV - 65/78 8
X-31224994-A-G c.9564-210T>C - IntronicSNV - 65/78 2
X-31224994-A-T c.9564-210T>A - IntronicSNV - 65/78 2
X-31225071-A-G c.9564-287T>C - IntronicSNV - 65/78 2
X-31226314-A-G c.9563+1301T>C - IntronicSNV - 65/78 1
X-31226370-A-C c.9563+1245T>G - IntronicSNV - 65/78 2
X-31226370-A-T c.9563+1245T>A - IntronicSNV - 65/78 2
X-31226400-T-C c.9563+1215A>G - IntronicSNV - 65/78 3
X-31227465-T-C c.9563+150A>G - IntronicSNV - 65/78 1
X-31227497-G-T c.9563+118C>A - IntronicSNV - 65/78 1
X-31227610-C-G c.9563+5G>C - IntronicSNV - 65/78 1
X-31227613-A-T c.9563+2T>A - IntronicSNV - 65/78 1
X-31227614-C-T c.9563+1G>A - IntronicSNV - 65/78 8
X-31227615-G-A c.9563C>T p.T3188M Missense 65/79 - 2
X-31227615-G-C c.9563C>G p.T3188R Missense 65/79 - 1
X-31227615-G-T c.9563C>A p.T3188K Missense 65/79 - 1
X-31227615-GT-AC c.9562_9563inv p.T3188V Missense 65/79 - 1
X-31227615-GT-AG c.9562_9563delinsCT p.T3188L Missense 65/79 - 1
X-31227615-GT-CA c.9562_9563delinsTG p.T3188W Missense 65/79 - 1
X-31227615-GT-CC c.9562_9563delinsGG p.T3188G Missense 65/79 - 1
X-31227615-GT-TC c.9562_9563delinsGA p.T3188E Missense 65/79 - 1
X-31227615-GT-TG c.9562_9563delinsCA p.T3188Q Missense 65/79 - 1
X-31227616-T-A c.9562A>T p.T3188S Missense 65/79 - 1
X-31227616-T-C c.9562A>G p.T3188A Missense 65/79 - 1
X-31227616-T-G c.9562A>C p.T3188P Missense 65/79 - 1
X-31227617-A-C c.9561T>G p.D3187E Missense 65/79 - 1
X-31227617-A-T c.9561T>A p.D3187E Missense 65/79 - 1
X-31227617-ATC-CAT c.9559_9561delinsATG p.D3187M Missense 65/79 - 1
X-31227617-ATC-CCA c.9559_9561delinsTGG p.D3187W Missense 65/79 - 1
X-31227617-ATC-CTT c.9559_9561delinsAAG p.D3187K Missense 65/79 - 1
X-31227617-ATC-TTG c.9559_9561delinsCAA p.D3187Q Missense 65/79 - 1
X-31227618-T-A c.9560A>T p.D3187V Missense 65/79 - 1
X-31227618-T-C c.9560A>G p.D3187G Missense 65/79 - 5
X-31227618-TC-AA c.9559_9560delinsTT p.D3187F Missense 65/79 - 1
X-31227618-TC-AG c.9559_9560delinsCT p.D3187L Missense 65/79 - 1
X-31227618-TC-AT c.9559_9560delinsAT p.D3187I Missense 65/79 - 1
X-31227618-TC-CA c.9559_9560delinsTG p.D3187C Missense 65/79 - 1
X-31227618-TC-CG c.9559_9560delinsCG p.D3187R Missense 65/79 - 1
X-31227618-TC-CT c.9559_9560delinsAG p.D3187S Missense 65/79 - 1
X-31227618-TC-GG c.9559_9560delinsCC p.D3187P Missense 65/79 - 1
X-31227618-TC-GT c.9559_9560delinsAC p.D3187T Missense 65/79 - 1
X-31227618-T-G c.9560A>C p.D3187A Missense 65/79 - 1
X-31227619-C-A c.9559G>T p.D3187Y Missense 65/79 - 1
X-31227619-C-G c.9559G>C p.D3187H Missense 65/79 - 1
X-31227619-C-T c.9559G>A p.D3187N Missense 65/79 - 1
X-31227620-ATA-CAT c.9556_9558delinsATG p.Y3186M Missense 65/79 - 1
X-31227620-ATA-CTC c.9556_9558delinsGAG p.Y3186E Missense 65/79 - 1
X-31227620-ATA-CTT c.9556_9558delinsAAG p.Y3186K Missense 65/79 - 1
X-31227620-ATA-TTG c.9556_9558delinsCAA p.Y3186Q Missense 65/79 - 1
X-31227620-AT-CC c.9557_9558delinsGG p.Y3186W Missense 65/79 - 1
X-31227621-T-A c.9557A>T p.Y3186F Missense 65/79 - 1
X-31227621-TA-AC c.9556_9557delinsGT p.Y3186V Missense 65/79 - 1
X-31227621-TA-AG c.9556_9557delinsCT p.Y3186L Missense 65/79 - 1
X-31227621-TA-AT c.9556_9557delinsAT p.Y3186I Missense 65/79 - 1
X-31227621-TA-CC c.9556_9557delinsGG p.Y3186G Missense 65/79 - 1
X-31227621-TA-CG c.9556_9557delinsCG p.Y3186R Missense 65/79 - 1
X-31227621-TA-GC c.9556_9557delinsGC p.Y3186A Missense 65/79 - 1
X-31227621-TA-GG c.9556_9557delinsCC p.Y3186P Missense 65/79 - 1
X-31227621-TA-GT c.9556_9557delinsAC p.Y3186T Missense 65/79 - 1
X-31227621-T-C c.9557A>G p.Y3186C Missense 65/79 - 1
X-31227621-T-G c.9557A>C p.Y3186S Missense 65/79 - 1
X-31227622-A-C c.9556T>G p.Y3186D Missense 65/79 - 1
X-31227622-A-G c.9556T>C p.Y3186H Missense 65/79 - 1
X-31227622-A-T c.9556T>A p.Y3186N Missense 65/79 - 1
X-31227623-AAC-CAT c.9553_9555delinsATG p.V3185M Missense 65/79 - 1
X-31227623-AAC-CCA c.9553_9555delinsTGG p.V3185W Missense 65/79 - 1
X-31227623-AAC-CTT c.9553_9555delinsAAG p.V3185K Missense 65/79 - 1
X-31227623-AA-CT c.9554_9555delinsAG p.V3185E Missense 65/79 - 1
X-31227623-AAC-TTG c.9553_9555delinsCAA p.V3185Q Missense 65/79 - 1
X-31227624-A-C c.9554T>G p.V3185G Missense 65/79 - 1
X-31227624-AC-CA c.9553_9554delinsTG p.V3185C