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 |
|