16-53738069-C-T |
c.-28C>T |
- |
5-UTRSNV |
1/9 |
- |
1 |
16-53738099-G-GT |
c.3_4insT |
p.K2* |
Nonsense |
1/9 |
- |
1 |
16-53738100-A-T |
c.4A>T |
p.K2* |
Nonsense |
1/9 |
- |
1 |
16-53738098-TGAAGCGCACCCCGACTGCCGAG-T |
c.6_27del |
p.K2Nfs*9 |
Frameshift |
1/9 |
- |
1 |
16-53738103-C-G |
c.7C>G |
p.R3G |
Missense |
1/9 |
- |
1 |
16-53738105-C-A |
c.9C>A |
p.R3= |
Synonymous |
1/9 |
- |
1 |
16-53738105-C-G |
c.9C>G |
p.R3= |
Synonymous |
1/9 |
- |
1 |
16-53738105-C-T |
c.9C>T |
p.R3= |
Synonymous |
1/9 |
- |
2 |
16-53738111-G-A |
c.15G>A |
p.P5= |
Synonymous |
1/9 |
- |
1 |
16-53738111-G-C |
c.15G>C |
p.P5= |
Synonymous |
1/9 |
- |
1 |
16-53738111-G-T |
c.15G>T |
p.P5= |
Synonymous |
1/9 |
- |
1 |
16-53738118-G-A |
c.22G>A |
p.E8K |
Missense |
1/9 |
- |
1 |
16-53738122-A-G |
c.26A>G |
p.E9G |
Missense |
1/9 |
- |
1 |
16-53738129-G-T |
c.33G>T |
p.E11D |
Missense |
1/9 |
- |
1 |
16-53738130-C-G |
c.34C>G |
p.R12G |
Missense |
1/9 |
- |
1 |
16-53738130-CG-GC |
c.34_35delinsGC |
p.R12A |
Missense |
1/9 |
- |
2 |
16-53738130-C-T |
c.34C>T |
p.R12C |
Missense |
1/9 |
- |
1 |
16-53738131-G-A |
c.35G>A |
p.R12H |
Missense |
1/9 |
- |
1 |
16-53738132-C-A |
c.36C>A |
p.R12= |
Synonymous |
1/9 |
- |
1 |
16-53738132-C-G |
c.36C>G |
p.R12= |
Synonymous |
1/9 |
- |
1 |
16-53738132-C-T |
c.36C>T |
p.R12= |
Synonymous |
1/9 |
- |
1 |
16-53738136-G-A |
c.40G>A |
p.A14T |
Missense |
1/9 |
- |
1 |
16-53738136-GC-CG |
c.40_41delinsCG |
p.A14R |
Missense |
1/9 |
- |
1 |
16-53738136-GC-TG |
c.40_41delinsTG |
p.A14C |
Missense |
1/9 |
- |
1 |
16-53738136-GCT-TAA |
c.40_42delinsTAA |
p.A14* |
Nonsense |
1/9 |
- |
1 |
16-53738136-GCT-TGG |
c.40_42delinsTGG |
p.A14W |
Missense |
1/9 |
- |
1 |
16-53738139-AA-GC |
c.43_44delinsGC |
p.K15A |
Missense |
1/9 |
- |
1 |
16-53738283-A-G |
c.45+142A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53738283-A-T |
c.45+142A>T |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53739773-A-C |
c.45+1632A>C |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53739773-A-T |
c.45+1632A>T |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53747858-A-G |
c.45+9717A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53748680-G-C |
c.45+10539G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748778-T-G |
c.45+10637T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748801-C-T |
c.45+10660C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748821-A-G |
c.45+10680A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748840-C-G |
c.45+10699C>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748856-A-G |
c.45+10715A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53748969-T-G |
c.45+10828T>G |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53749210-TG-T |
c.45+11071del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53749264-C-T |
c.45+11123C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53750137-G-A |
c.45+11996G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53755146-A-G |
c.45+17005A>G |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53756033-C-T |
c.45+17892C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53756133-T-C |
c.45+17992T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53756137-C-T |
c.45+17996C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53756362-GT-G |
c.45+18230del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53757031-C-T |
c.45+18890C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53757740-A-C |
c.45+19599A>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53757740-A-G |
c.45+19599A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53759123-C-T |
c.45+20982C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760521-G-T |
c.45+22380G>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760534-T-G |
c.45+22393T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760649-A-T |
c.45+22508A>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760651-A-G |
c.45+22510A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760716-C-T |
c.45+22575C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760769-A-G |
c.45+22628A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760774-T-G |
c.45+22633T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53760910-TA-T |
c.45+22776del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53764228-CT-C |
c.45+26096del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53767648-G-A |
c.45+29507G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53767796-A-G |
c.45+29655A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53769293-G-A |
c.45+31152G>A |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53769598-AAATGGC-A |
c.45+31459_45+31464del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53769606-T-G |
c.45+31465T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53769677-G-A |
c.45+31536G>A |
- |
IntronicSNV |
- |
1/8 |
61 |
16-53770578-A-T |
c.45+32437A>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53770749-C-A |
c.45+32608C>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53771105-T-C |
c.45+32964T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53772346-A-G |
c.45+34205A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53772626-T-A |
c.45+34485T>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53772626-T-C |
c.45+34485T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53773885-A-G |
c.45+35744A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53778440-G-A |
c.45+40299G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53778445-T-G |
c.45+40304T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53778663-A-C |
c.45+40522A>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53778711-T-A |
c.45+40570T>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53778801-A-G |
c.45+40660A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53778807-G-C |
c.45+40666G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53779198-A-G |
c.45+41057A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53779377-G-A |
c.45+41236G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53779869-T-TC |
c.45+41728_45+41729insC |
- |
IntronicInsertion |
- |
1/8 |
1 |
16-53780102-C-T |
c.45+41961C>T |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53784911-G-A |
c.45+46770G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53784964-T-G |
c.45+46823T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53785790-T-C |
c.45+47649T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53786446-T-C |
c.45+48305T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53788550-A-C |
c.45+50409A>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53788549-CA-C |
c.45+50418del |
- |
IntronicDeletion |
- |
1/8 |
1 |
16-53788658-A-G |
c.45+50517A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53789175-C-G |
c.45+51034C>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53789508-T-A |
c.45+51367T>A |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53789613-G-A |
c.45+51472G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53789613-G-T |
c.45+51472G>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53789999-C-T |
c.45+51858C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53790181-C-A |
c.45+52040C>A |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53790181-C-G |
c.45+52040C>G |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53790402-C-T |
c.45+52261C>T |
- |
IntronicSNV |
- |
1/8 |
21 |
16-53790762-C-T |
c.45+52621C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53790906-G-A |
c.45+52765G>A |
- |
IntronicSNV |
- |
1/8 |
8 |
16-53791411-G-A |
c.46-52641G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53791653-C-A |
c.46-52399C>A |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53791798-G-A |
c.46-52254G>A |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53792439-C-T |
c.46-51613C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53792922-A-G |
c.46-51130A>G |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53793204-A-G |
c.46-50848A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53793798-T-C |
c.46-50254T>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53794469-G-A |
c.46-49583G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53794469-G-C |
c.46-49583G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53794469-G-T |
c.46-49583G>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53795409-G-A |
c.46-48643G>A |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53795409-G-C |
c.46-48643G>C |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53795636-A-G |
c.46-48416A>G |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53795636-A-T |
c.46-48416A>T |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53797057-G-A |
c.46-46995G>A |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53797183-C-A |
c.46-46869C>A |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53797452-G-A |
c.46-46600G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53797506-C-T |
c.46-46546C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53797518-T-C |
c.46-46534T>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53797565-A-C |
c.46-46487A>C |
- |
IntronicSNV |
- |
1/8 |
9 |
16-53797565-A-G |
c.46-46487A>G |
- |
IntronicSNV |
- |
1/8 |
9 |
16-53797908-C-G |
c.46-46144C>G |
- |
IntronicSNV |
- |
1/8 |
35 |
16-53798319-G-A |
c.46-45733G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53798523-G-A |
c.46-45529G>A |
- |
IntronicSNV |
- |
1/8 |
40 |
16-53798622-G-T |
c.46-45430G>T |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53799279-G-T |
c.46-44773G>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53799296-C-T |
c.46-44756C>T |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53799303-C-T |
c.46-44749C>T |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53799507-G-A |
c.46-44545G>A |
- |
IntronicSNV |
- |
1/8 |
18 |
16-53799847-G-A |
c.46-44205G>A |
- |
IntronicSNV |
- |
1/8 |
8 |
16-53799905-A-G |
c.46-44147A>G |
- |
IntronicSNV |
- |
1/8 |
9 |
16-53799977-T-C |
c.46-44075T>C |
- |
IntronicSNV |
- |
1/8 |
35 |
16-53799977-T-G |
c.46-44075T>G |
- |
IntronicSNV |
- |
1/8 |
35 |
16-53799985-T-A |
c.46-44067T>A |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53799985-T-C |
c.46-44067T>C |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53800200-C-T |
c.46-43852C>T |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53800272-T-A |
c.46-43780T>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53800272-T-C |
c.46-43780T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53800272-T-G |
c.46-43780T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53800387-A-G |
c.46-43665A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53800387-A-T |
c.46-43665A>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53800568-G-A |
c.46-43484G>A |
- |
IntronicSNV |
- |
1/8 |
46 |
16-53800629-C-G |
c.46-43423C>G |
- |
IntronicSNV |
- |
1/8 |
12 |
16-53800754-G-A |
c.46-43298G>A |
- |
IntronicSNV |
- |
1/8 |
52 |
16-53800943-C-T |
c.46-43109C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53800954-T-C |
c.46-43098T>C |
- |
IntronicSNV |
- |
1/8 |
429 |
16-53801343-C-A |
c.46-42709C>A |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53801343-C-T |
c.46-42709C>T |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53801549-C-T |
c.46-42503C>T |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53801985-C-T |
c.46-42067C>T |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53802494-C-T |
c.46-41558C>T |
- |
IntronicSNV |
- |
1/8 |
29 |
16-53803038-A-G |
c.46-41014A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53803156-G-A |
c.46-40896G>A |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53803187-A-T |
c.46-40865A>T |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53803223-G-A |
c.46-40829G>A |
- |
IntronicSNV |
- |
1/8 |
20 |
16-53803574-T-A |
c.46-40478T>A |
- |
IntronicSNV |
- |
1/8 |
271 |
16-53804340-C-T |
c.46-39712C>T |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53804965-T-A |
c.46-39087T>A |
- |
IntronicSNV |
- |
1/8 |
14 |
16-53804965-T-C |
c.46-39087T>C |
- |
IntronicSNV |
- |
1/8 |
14 |
16-53805092-G-C |
c.46-38960G>C |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53805207-C-A |
c.46-38845C>A |
- |
IntronicSNV |
- |
1/8 |
9 |
16-53805344-C-G |
c.46-38708C>G |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53806145-T-C |
c.46-37907T>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53806280-C-G |
c.46-37772C>G |
- |
IntronicSNV |
- |
1/8 |
12 |
16-53806453-A-G |
c.46-37599A>G |
- |
IntronicSNV |
- |
1/8 |
34 |
16-53806453-A-T |
c.46-37599A>T |
- |
IntronicSNV |
- |
1/8 |
34 |
16-53807498-C-G |
c.46-36554C>G |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53807764-A-C |
c.46-36288A>C |
- |
IntronicSNV |
- |
1/8 |
23 |
16-53807764-A-G |
c.46-36288A>G |
- |
IntronicSNV |
- |
1/8 |
23 |
16-53807924-G-A |
c.46-36128G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53808258-A-G |
c.46-35794A>G |
- |
IntronicSNV |
- |
1/8 |
41 |
16-53808984-C-A |
c.46-35068C>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53809123-C-T |
c.46-34929C>T |
- |
IntronicSNV |
- |
1/8 |
27 |
16-53809247-G-A |
c.46-34805G>A |
- |
IntronicSNV |
- |
1/8 |
207 |
16-53809247-G-C |
c.46-34805G>C |
- |
IntronicSNV |
- |
1/8 |
207 |
16-53809861-A-G |
c.46-34191A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53810014-A-G |
c.46-34038A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53810546-C-A |
c.46-33506C>A |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53810686-T-C |
c.46-33366T>C |
- |
IntronicSNV |
- |
1/8 |
50 |
16-53810943-C-T |
c.46-33109C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53811788-A-G |
c.46-32264A>G |
- |
IntronicSNV |
- |
1/8 |
15 |
16-53812433-T-C |
c.46-31619T>C |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53812524-A-G |
c.46-31528A>G |
- |
IntronicSNV |
- |
1/8 |
19 |
16-53812614-G-A |
c.46-31438G>A |
- |
IntronicSNV |
- |
1/8 |
22 |
16-53812710-T-C |
c.46-31342T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53813367-T-A |
c.46-30685T>A |
- |
IntronicSNV |
- |
1/8 |
218 |
16-53813367-T-G |
c.46-30685T>G |
- |
IntronicSNV |
- |
1/8 |
218 |
16-53813450-A-T |
c.46-30602A>T |
- |
IntronicSNV |
- |
1/8 |
25 |
16-53813498-C-T |
c.46-30554C>T |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53814363-G-T |
c.46-29689G>T |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53814470-C-T |
c.46-29582C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53815161-T-A |
c.46-28891T>A |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53815161-T-G |
c.46-28891T>G |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53815435-T-C |
c.46-28617T>C |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53815865-G-A |
c.46-28187G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53816275-C-A |
c.46-27777C>A |
- |
IntronicSNV |
- |
1/8 |
523 |
16-53816647-G-C |
c.46-27405G>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53816752-A-G |
c.46-27300A>G |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53816784-T-A |
c.46-27268T>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53816838-G-A |
c.46-27214G>A |
- |
IntronicSNV |
- |
1/8 |
23 |
16-53817318-G-A |
c.46-26734G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53817519-A-C |
c.46-26533A>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53817519-A-T |
c.46-26533A>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53818167-T-C |
c.46-25885T>C |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53818460-G-T |
c.46-25592G>T |
- |
IntronicSNV |
- |
1/8 |
165 |
16-53818708-G-T |
c.46-25344G>T |
- |
IntronicSNV |
- |
1/8 |
11 |
16-53818724-G-A |
c.46-25328G>A |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53818813-A-G |
c.46-25239A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53818834-A-G |
c.46-25218A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53819169-T-C |
c.46-24883T>C |
- |
IntronicSNV |
- |
1/8 |
48 |
16-53819198-G-A |
c.46-24854G>A |
- |
IntronicSNV |
- |
1/8 |
12 |
16-53819198-G-C |
c.46-24854G>C |
- |
IntronicSNV |
- |
1/8 |
12 |
16-53819367-G-A |
c.46-24685G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53819771-G-A |
c.46-24281G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53819877-C-A |
c.46-24175C>A |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53819877-C-T |
c.46-24175C>T |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53819893-A-G |
c.46-24159A>G |
- |
IntronicSNV |
- |
1/8 |
15 |
16-53819937-A-T |
c.46-24115A>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53820066-T-C |
c.46-23986T>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53820317-A-G |
c.46-23735A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53820376-A-G |
c.46-23676A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53820423-T-G |
c.46-23629T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53820503-G-A |
c.46-23549G>A |
- |
IntronicSNV |
- |
1/8 |
24 |
16-53820512-G-A |
c.46-23540G>A |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53820527-T-A |
c.46-23525T>A |
- |
IntronicSNV |
- |
1/8 |
1171 |
16-53820813-A-G |
c.46-23239A>G |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53820996-C-A |
c.46-23056C>A |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53820996-C-G |
c.46-23056C>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53821125-A-G |
c.46-22927A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53821125-A-T |
c.46-22927A>T |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53821297-T-C |
c.46-22755T>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53821307-C-T |
c.46-22745C>T |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53821413-T-C |
c.46-22639T>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53821615-A-G |
c.46-22437A>G |
- |
IntronicSNV |
- |
1/8 |
38 |
16-53821690-A-G |
c.46-22362A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53821862-C-T |
c.46-22190C>T |
- |
IntronicSNV |
- |
1/8 |
6 |
16-53822142-C-A |
c.46-21910C>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822142-C-T |
c.46-21910C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822183-C-T |
c.46-21869C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822237-A-G |
c.46-21815A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822239-A-G |
c.46-21813A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822239-A-T |
c.46-21813A>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822387-C-T |
c.46-21665C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53822440-G-A |
c.46-21612G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53822502-T-A |
c.46-21550T>A |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53822502-T-G |
c.46-21550T>G |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53822651-A-G |
c.46-21401A>G |
- |
IntronicSNV |
- |
1/8 |
25 |
16-53822651-A-T |
c.46-21401A>T |
- |
IntronicSNV |
- |
1/8 |
25 |
16-53823718-G-A |
c.46-20334G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53823718-G-C |
c.46-20334G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53823727-T-C |
c.46-20325T>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53823878-T-C |
c.46-20174T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53823990-C-T |
c.46-20062C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53824007-G-A |
c.46-20045G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53824226-A-G |
c.46-19826A>G |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53825238-A-G |
c.46-18814A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53825488-C-T |
c.46-18564C>T |
- |
IntronicSNV |
- |
1/8 |
54 |
16-53825905-G-A |
c.46-18147G>A |
- |
IntronicSNV |
- |
1/8 |
8 |
16-53825905-G-T |
c.46-18147G>T |
- |
IntronicSNV |
- |
1/8 |
8 |
16-53826000-A-C |
c.46-18052A>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53826000-A-T |
c.46-18052A>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53826028-T-A |
c.46-18024T>A |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53826028-T-C |
c.46-18024T>C |
- |
IntronicSNV |
- |
1/8 |
3 |
16-53826034-T-C |
c.46-18018T>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53826120-A-G |
c.46-17932A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53827179-C-G |
c.46-16873C>G |
- |
IntronicSNV |
- |
1/8 |
12 |
16-53827479-A-G |
c.46-16573A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53827487-C-T |
c.46-16565C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53827962-A-G |
c.46-16090A>G |
- |
IntronicSNV |
- |
1/8 |
8 |
16-53828037-C-T |
c.46-16015C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53828066-C-T |
c.46-15986C>T |
- |
IntronicSNV |
- |
1/8 |
31 |
16-53828752-A-G |
c.46-15300A>G |
- |
IntronicSNV |
- |
1/8 |
22 |
16-53828968-T-C |
c.46-15084T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53829192-C-T |
c.46-14860C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53830055-C-G |
c.46-13997C>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53830452-A-G |
c.46-13600A>G |
- |
IntronicSNV |
- |
1/8 |
9 |
16-53830465-A-G |
c.46-13587A>G |
- |
IntronicSNV |
- |
1/8 |
165 |
16-53830491-T-C |
c.46-13561T>C |
- |
IntronicSNV |
- |
1/8 |
10 |
16-53830590-C-T |
c.46-13462C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53830867-T-A |
c.46-13185T>A |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53830867-T-C |
c.46-13185T>C |
- |
IntronicSNV |
- |
1/8 |
4 |
16-53830877-C-G |
c.46-13175C>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53831146-C-T |
c.46-12906C>T |
- |
IntronicSNV |
- |
1/8 |
16 |
16-53831354-C-T |
c.46-12698C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53831771-G-T |
c.46-12281G>T |
- |
IntronicSNV |
- |
1/8 |
14 |
16-53832816-T-C |
c.46-11236T>C |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53833605-T-C |
c.46-10447T>C |
- |
IntronicSNV |
- |
1/8 |
16 |
16-53834508-T-C |
c.46-9544T>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53834607-T-C |
c.46-9445T>C |
- |
IntronicSNV |
- |
1/8 |
7 |
16-53834608-G-A |
c.46-9444G>A |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53834763-C-T |
c.46-9289C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53837144-G-T |
c.46-6908G>T |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53837342-A-G |
c.46-6710A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
16-53837369-C-T |
c.46-6683C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53838295-T-G |
c.46-5757T>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53839135-T-A |
c.46-4917T>A |
- |
IntronicSNV |
- |
1/8 |
57 |
16-53839135-T-C |
c.46-4917T>C |
- |
IntronicSNV |
- |
1/8 |
57 |
16-53839135-T-G |
c.46-4917T>G |
- |
IntronicSNV |
- |
1/8 |
57 |
16-53840525-C-G |
c.46-3527C>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53840525-C-T |
c.46-3527C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53841177-A-G |
c.46-2875A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53842518-G-A |
c.46-1534G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53842518-G-C |
c.46-1534G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53842712-G-A |
c.46-1340G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
16-53842908-G-A |
c.46-1144G>A |
- |
IntronicSNV |
- |
1/8 |
40 |
16-53843533-T-C |
c.46-519T>C |
- |
IntronicSNV |
- |
1/8 |
5 |
16-53844055-CTG-TTT |
c.49_51delinsTTT |
p.L17F |
Missense |
2/9 |
- |
1 |
16-53844058-AG-GC |
c.52_53delinsGC |
p.R18A |
Missense |
2/9 |
- |
1 |
16-53844071-A-G |
c.65A>G |
p.E22G |
Missense |
2/9 |
- |
1 |
16-53844076-G-A |
c.70G>A |
p.E24K |
Missense |
2/9 |
- |
1 |
16-53844080-A-C |
c.74A>C |
p.D25A |
Missense |
2/9 |
- |
1 |
16-53844083-C-A |
c.77C>A |
p.T26N |
Missense |
2/9 |
- |
1 |
16-53844083-C-T |
c.77C>T |
p.T26I |
Missense |
2/9 |
- |
1 |
16-53844088-C-G |
c.82C>G |
p.L28V |
Missense |
2/9 |
- |
1 |
16-53844089-T-C |
c.83T>C |
p.L28P |
Missense |
2/9 |
- |
1 |
16-53844090-C-T |
c.84C>T |
p.L28= |
Synonymous |
2/9 |
- |
1 |
16-53844091-C-T |
c.85C>T |
p.P29S |
Missense |
2/9 |
- |
1 |
16-53844092-C-A |
c.86C>A |
p.P29H |
Missense |
2/9 |
- |
1 |
16-53844095-A-G |
c.89A>G |
p.Y30C |
Missense |
2/9 |
- |
2 |
16-53844097-C-G |
c.91C>G |
p.L31V |
Missense |
2/9 |
- |
3 |
16-53844097-C-T |
c.91C>T |
p.L31= |
Synonymous |
2/9 |
- |
1 |
16-53844101-C-T |
c.95C>T |
p.T32I |
Missense |
2/9 |
- |
1 |
16-53844104-C-A |
c.98C>A |
p.P33H |
Missense |
2/9 |
- |
1 |
16-53844100-A-AC |
c.99dup |
p.K34Qfs*3 |
Frameshift |
2/9 |
- |
1 |
16-53844105-C-A |
c.99C>A |
p.P33= |
Synonymous |
2/9 |
- |
1 |
16-53844105-C-G |
c.99C>G |
p.P33= |
Synonymous |
2/9 |
- |
1 |
16-53844105-C-T |
c.99C>T |
p.P33= |
Synonymous |
2/9 |
- |
3 |
16-53844107-A-T |
c.101A>T |
p.K34I |
Missense |
2/9 |
- |
1 |
16-53844109-GA-TG |
c.103_104delinsTG |
p.D35C |
Missense |
2/9 |
- |
1 |
16-53844115-G-T |
c.109G>T |
p.E37* |
Nonsense |
2/9 |
- |
1 |
16-53844116-A-C |
c.110A>C |
p.E37A |
Missense |
2/9 |
- |
3 |
16-53844117-A-C |
c.111A>C |
p.E37D |
Missense |
2/9 |
- |
1 |
16-53844117-A-T |
c.111A>T |
p.E37D |
Missense |
2/9 |
- |
1 |
16-53844118-T-C |
c.112T>C |
p.F38L |
Missense |
2/9 |
- |
1 |
16-53844120-C-A |
c.114C>A |
p.F38L |
Missense |
2/9 |
- |
1 |
16-53844120-C-G |
c.114C>G |
p.F38L |
Missense |
2/9 |
- |
2 |
16-53844120-C-T |
c.114C>T |
p.F38= |
Synonymous |
2/9 |
- |
1 |
16-53844124-C-G |
c.118C>G |
p.Q40E |
Missense |
2/9 |
- |
3 |
16-53844126-G-C |
c.120G>C |
p.Q40H |
Missense |
2/9 |
- |
1 |
16-53844126-G-T |
c.120G>T |
p.Q40H |
Missense |
2/9 |
- |
1 |
16-53844129-G-C |
c.123G>C |
p.Q41H |
Missense |
2/9 |
- |
2 |
16-53844129-G-T |
c.123G>T |
p.Q41H |
Missense |
2/9 |
- |
2 |
16-53844193-T-C |
c.123+64T>C |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53844579-G-A |
c.123+450G>A |
- |
IntronicSNV |
- |
2/8 |
5 |
16-53844579-G-C |
c.123+450G>C |
- |
IntronicSNV |
- |
2/8 |
5 |
16-53845169-T-G |
c.123+1040T>G |
- |
IntronicSNV |
- |
2/8 |
2 |
16-53845487-C-A |
c.123+1358C>A |
- |
IntronicSNV |
- |
2/8 |
41 |
16-53845487-C-G |
c.123+1358C>G |
- |
IntronicSNV |
- |
2/8 |
41 |
16-53846926-G-A |
c.123+2797G>A |
- |
IntronicSNV |
- |
2/8 |
2 |
16-53848561-A-G |
c.123+4432A>G |
- |
IntronicSNV |
- |
2/8 |
8 |
16-53850079-G-A |
c.123+5950G>A |
- |
IntronicSNV |
- |
2/8 |
6 |
16-53850170-A-G |
c.123+6041A>G |
- |
IntronicSNV |
- |
2/8 |
10 |
16-53850868-T-C |
c.123+6739T>C |
- |
IntronicSNV |
- |
2/8 |
3 |
16-53851304-G-A |
c.123+7175G>A |
- |
IntronicSNV |
- |
2/8 |
4 |
16-53852961-G-A |
c.124-6815G>A |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53853229-A-C |
c.124-6547A>C |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53853229-A-G |
c.124-6547A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53853898-A-C |
c.124-5878A>C |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53853898-A-G |
c.124-5878A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53853898-A-T |
c.124-5878A>T |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53854498-A-G |
c.124-5278A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53855291-A-T |
c.124-4485A>T |
- |
IntronicSNV |
- |
2/8 |
44 |
16-53855600-A-G |
c.124-4176A>G |
- |
IntronicSNV |
- |
2/8 |
5 |
16-53858024-C-A |
c.124-1752C>A |
- |
IntronicSNV |
- |
2/8 |
4 |
16-53858024-C-T |
c.124-1752C>T |
- |
IntronicSNV |
- |
2/8 |
4 |
16-53858583-A-G |
c.124-1193A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53858777-T-A |
c.124-999T>A |
- |
IntronicSNV |
- |
2/8 |
3 |
16-53858912-C-T |
c.124-864C>T |
- |
IntronicSNV |
- |
2/8 |
4 |
16-53858954-T-C |
c.124-822T>C |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53859158-A-G |
c.124-618A>G |
- |
IntronicSNV |
- |
2/8 |
4 |
16-53859518-A-C |
c.124-258A>C |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53859518-A-G |
c.124-258A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53859747-C-T |
c.124-29C>T |
- |
IntronicSNV |
- |
2/8 |
1 |
16-53859782-C-A |
c.130C>A |
p.L44M |
Missense |
3/9 |
- |
1 |
16-53859782-C-G |
c.130C>G |
p.L44V |
Missense |
3/9 |
- |
3 |
16-53859782-C-T |
c.130C>T |
p.L44= |
Synonymous |
3/9 |
- |
1 |
16-53859784-G-A |
c.132G>A |
p.L44= |
Synonymous |
3/9 |
- |
1 |
16-53859784-G-C |
c.132G>C |
p.L44= |
Synonymous |
3/9 |
- |
1 |
16-53859784-G-T |
c.132G>T |
p.L44= |
Synonymous |
3/9 |
- |
1 |
16-53859785-A-G |
c.133A>G |
p.K45E |
Missense |
3/9 |
- |
2 |
16-53859792-C-G |
c.140C>G |
p.P47R |
Missense |
3/9 |
- |
1 |
16-53859793-T-A |
c.141T>A |
p.P47= |
Synonymous |
3/9 |
- |
1 |
16-53859793-T-C |
c.141T>C |
p.P47= |
Synonymous |
3/9 |
- |
1 |
16-53859793-T-G |
c.141T>G |
p.P47= |
Synonymous |
3/9 |
- |
1 |
16-53859795-A-G |
c.143A>G |
p.K48R |
Missense |
3/9 |
- |
1 |
16-53859796-A-G |
c.144A>G |
p.K48= |
Synonymous |
3/9 |
- |
1 |
16-53859797-C-T |
c.145C>T |
p.L49= |
Synonymous |
3/9 |
- |
1 |
16-53859799-A-C |
c.147A>C |
p.L49= |
Synonymous |
3/9 |
- |
1 |
16-53859799-A-G |
c.147A>G |
p.L49= |
Synonymous |
3/9 |
- |
1 |
16-53859799-A-T |
c.147A>T |
p.L49= |
Synonymous |
3/9 |
- |
1 |
16-53859800-A-T |
c.148A>T |
p.I50F |
Missense |
3/9 |
- |
4 |
16-53859803-C-A |
c.151C>A |
p.L51I |
Missense |
3/9 |
- |
3 |
16-53859805-C-T |
c.153C>T |
p.L51= |
Synonymous |
3/9 |
- |
1 |
16-53859806-C-T |
c.154C>T |
p.R52* |
Nonsense |
3/9 |
- |
3 |
16-53859807-G-A |
c.155G>A |
p.R52Q |
Missense |
3/9 |
- |
1 |
16-53859812-G-A |
c.160G>A |
p.A54T |
Missense |
3/9 |
- |
19 |
16-53859813-C-T |
c.161C>T |
p.A54V |
Missense |
3/9 |
- |
1 |
16-53859814-C-A |
c.162C>A |
p.A54= |
Synonymous |
3/9 |
- |
1 |
16-53859814-C-G |
c.162C>G |
p.A54= |
Synonymous |
3/9 |
- |
1 |
16-53859814-C-T |
c.162C>T |
p.A54= |
Synonymous |
3/9 |
- |
1 |
16-53859815-A-G |
c.163A>G |
p.S55G |
Missense |
3/9 |
- |
1 |
16-53859819-AG-A |
c.167del |
p.S56Mfs*54 |
Frameshift |
3/9 |
- |
1 |
16-53859821-G-A |
c.169G>A |
p.V57I |
Missense |
3/9 |
- |
1 |
16-53859824-TC-AA |
c.172_173delinsAA |
p.S58N |
Missense |
3/9 |
- |
1 |
16-53859825-C-T |
c.173C>T |
p.S58F |
Missense |
3/9 |
- |
2 |
16-53859828-A-C |
c.176A>C |
p.E59A |
Missense |
3/9 |
- |
2 |
16-53859830-GAG-TTT |
c.178_180delinsTTT |
p.E60F |
Missense |
3/9 |
- |
1 |
16-53859833-C-T |
c.181C>T |
p.L61F |
Missense |
3/9 |
- |
2 |
16-53859836-C-G |
c.184C>G |
p.H62D |
Missense |
3/9 |
- |
1 |
16-53859836-C-T |
c.184C>T |
p.H62Y |
Missense |
3/9 |
- |
3 |
16-53859837-A-C |
c.185A>C |
p.H62P |
Missense |
3/9 |
- |
1 |
16-53859837-A-G |
c.185A>G |
p.H62R |
Missense |
3/9 |
- |
2 |
16-53859844-G-A |
c.192G>A |
p.E64= |
Synonymous |
3/9 |
- |
2 |
16-53859845-G-C |
c.193G>C |
p.V65L |
Missense |
3/9 |
- |
1 |
16-53859845-G-T |
c.193G>T |
p.V65F |
Missense |
3/9 |
- |
1 |
16-53859845-GT-CA |
c.193_194delinsCA |
p.V65H |
Missense |
3/9 |
- |
1 |
16-53859848-CAAG-C |
c.200_202del |
p.E67del |
InFrameDeletion |
3/9 |
- |
1 |
16-53859853-A-T |
c.201A>T |
p.E67D |
Missense |
3/9 |
- |
1 |
16-53859854-G-T |
c.202G>T |
p.A68S |
Missense |
3/9 |
- |
2 |
16-53859855-C-A |
c.203C>A |
p.A68D |
Missense |
3/9 |
- |
1 |
16-53859855-CC-AG |
c.203_204delinsAG |
p.A68E |
Missense |
3/9 |
- |
1 |
16-53859856-C-A |
c.204C>A |
p.A68= |
Synonymous |
3/9 |
- |
1 |
16-53859856-C-G |
c.204C>G |
p.A68= |
Synonymous |
3/9 |
- |
1 |
16-53859856-C-T |
c.204C>T |
p.A68= |
Synonymous |
3/9 |
- |
1 |
16-53859857-TT-GC |
c.205_206delinsGC |
p.F69A |
Missense |
3/9 |
- |
1 |
16-53859858-T-G |
c.206T>G |
p.F69C |
Missense |
3/9 |
- |
1 |
16-53859860-C-T |
c.208C>T |
p.L70F |
Missense |
3/9 |
- |
1 |
16-53859861-T-A |
c.209T>A |
p.L70H |
Missense |
3/9 |
- |
1 |
16-53859864-C-T |
c.212C>T |
p.T71I |
Missense |
3/9 |
- |
1 |
16-53859867-T-C |
c.215T>C |
p.L72P |
Missense |
3/9 |
- |
1 |
16-53859874-G-C |
c.222G>C |
p.K74N |
Missense |
3/9 |
- |
1 |
16-53859874-G-T |
c.222G>T |
p.K74N |
Missense |
3/9 |
- |
1 |
16-53859876-A-G |
c.224A>G |
p.H75R |
Missense |
3/9 |
- |
2 |
16-53859878-G-T |
c.226G>T |
p.G76C |
Missense |
3/9 |
- |
2 |
16-53859879-G-A |
c.227G>A |
p.G76D |
Missense |
3/9 |
- |
2 |
16-53859881-TG-GA |
c.229_230delinsGA |
p.C77D |
Missense |
3/9 |
- |
1 |
16-53859884-T-A |
c.232T>A |
p.L78I |
Missense |
3/9 |
- |
1 |
16-53859890-C-T |
c.238C>T |
p.R80W |
Missense |
3/9 |
- |
6 |
16-53859891-G-A |
c.239G>A |
p.R80Q |
Missense |
3/9 |
- |
1 |
16-53859891-G-C |
c.239G>C |
p.R80P |
Missense |
3/9 |
- |
1 |
16-53859891-G-T |
c.239G>T |
p.R80L |
Missense |
3/9 |
- |
2 |
16-53859894-A-C |
c.242A>C |
p.D81A |
Missense |
3/9 |
- |
1 |
16-53859895-C-A |
c.243C>A |
p.D81E |
Missense |
3/9 |
- |
1 |
16-53859897-T-C |
c.245T>C |
p.L82P |
Missense |
3/9 |
- |
1 |
16-53859899-G-C |
c.247G>C |
p.V83L |
Missense |
3/9 |
- |
3 |
16-53859902-A-G |
c.250A>G |
p.R84G |
Missense |
3/9 |
- |
1 |
16-53859904-G-C |
c.252G>C |
p.R84S |
Missense |
3/9 |
- |
1 |
16-53859904-G-T |
c.252G>T |
p.R84S |
Missense |
3/9 |
- |
1 |
16-53859907-C-G |
c.255C>G |
p.I85M |
Missense |
3/9 |
- |
1 |
16-53859908-C-A |
c.256C>A |
p.Q86K |
Missense |
3/9 |
- |
2 |
16-53859908-CA-GC |
c.256_257delinsGC |
p.Q86A |
Missense |
3/9 |
- |
1 |
16-53859909-A-T |
c.257A>T |
p.Q86L |
Missense |
3/9 |
- |
1 |
16-53859916-A-C |
c.264A>C |
p.K88N |
Missense |
3/9 |
- |
1 |
16-53859916-A-T |
c.264A>T |
p.K88N |
Missense |
3/9 |
- |
1 |
16-53859920-C-G |
c.268C>G |
p.L90V |
Missense |
3/9 |
- |
1 |
16-53859920-C-T |
c.268C>T |
p.L90= |
Synonymous |
3/9 |
- |
1 |
16-53859923-C-T |
c.271C>T |
p.L91F |
Missense |
3/9 |
- |
2 |
16-53859924-T-C |
c.272T>C |
p.L91P |
Missense |
3/9 |
- |
1 |
16-53859925-C-T |
c.273C>T |
p.L91= |
Synonymous |
3/9 |
- |
1 |
16-53859926-A-T |
c.274A>T |
p.T92S |
Missense |
3/9 |
- |
2 |
16-53859927-C-G |
c.275C>G |
p.T92S |
Missense |
3/9 |
- |
1 |
16-53859927-C-T |
c.275C>T |
p.T92I |
Missense |
3/9 |
- |
3 |
16-53859929-C-T |
c.277C>T |
p.P93S |
Missense |
3/9 |
- |
4 |
16-53859930-C-G |
c.278C>G |
p.P93R |
Missense |
3/9 |
- |
8 |
16-53859930-C-T |
c.278C>T |
p.P93L |
Missense |
3/9 |
- |
5 |
16-53859931-G-A |
c.279G>A |
p.P93= |
Synonymous |
3/9 |
- |
3 |
16-53859931-G-C |
c.279G>C |
p.P93= |
Synonymous |
3/9 |
- |
2 |
16-53859931-G-T |
c.279G>T |
p.P93= |
Synonymous |
3/9 |
- |
2 |
16-53859932-G-A |
c.280G>A |
p.V94I |
Missense |
3/9 |
- |
1 |
16-53859932-GTA-ATG |
c.280_282delinsATG |
p.V94M |
Missense |
3/9 |
- |
1 |
16-53859936-C-T |
c.284C>T |
p.S95F |
Missense |
3/9 |
- |
1 |
16-53859938-C-G |
c.286C>G |
p.R96G |
Missense |
3/9 |
- |
1 |
16-53859938-CGC-ATG |
c.286_288delinsATG |
p.R96M |
Missense |
3/9 |
- |
3 |
16-53859938-CGC-TGG |
c.286_288delinsTGG |
p.R96W |
Missense |
3/9 |
- |
2 |
16-53859938-CG-GC |
c.286_287delinsGC |
p.R96A |
Missense |
3/9 |
- |
2 |
16-53859938-C-T |
c.286C>T |
p.R96C |
Missense |
3/9 |
- |
3 |
16-53859939-G-A |
c.287G>A |
p.R96H |
Missense |
3/9 |
- |
9 |
16-53859939-G-C |
c.287G>C |
p.R96P |
Missense |
3/9 |
- |
1 |
16-53859939-GC-AA |
c.287_288delinsAA |
p.R96Q |
Missense |
3/9 |
- |
11 |
16-53859939-G-T |
c.287G>T |
p.R96L |
Missense |
3/9 |
- |
2 |
16-53859941-A-G |
c.289A>G |
p.I97V |
Missense |
3/9 |
- |
2 |
16-53859942-T-G |
c.290T>G |
p.I97S |
Missense |
3/9 |
- |
4 |
16-53859944-C-T |
c.292C>T |
p.L98F |
Missense |
3/9 |
- |
1 |
16-53859950-G-T |
c.298G>T |
p.G100C |
Missense |
3/9 |
- |
1 |
16-53859959-G-T |
c.307G>T |
p.G103C |
Missense |
3/9 |
- |
1 |
16-53859960-G-A |
c.308G>A |
p.G103D |
Missense |
3/9 |
- |
2 |
16-53859963-G-T |
c.311G>T |
p.C104F |
Missense |
3/9 |
- |
3 |
16-53859964-C-T |
c.312C>T |
p.C104= |
Synonymous |
3/9 |
- |
1 |
16-53859966-CC-TG |
c.314_315delinsTG |
p.T105M |
Missense |
3/9 |
- |
1 |
16-53859969-A-G |
c.317A>G |
p.Y106C |
Missense |
3/9 |
- |
1 |
16-53859969-A-T |
c.317A>T |
p.Y106F |
Missense |
3/9 |
- |
2 |
16-53859973-G-A |
c.321G>A |
p.K107= |
Synonymous |
3/9 |
- |
1 |
16-53859974-TA-GC |
c.322_323delinsGC |
p.Y108A |
Missense |
3/9 |
- |
4 |
16-53859975-A-T |
c.323A>T |
p.Y108F |
Missense |
3/9 |
- |
1 |
16-53859977-C-G |
c.325C>G |
p.L109V |
Missense |
3/9 |
- |
1 |
16-53859979-G-T |
c.327G>T |
p.L109= |
Synonymous |
3/9 |
- |
1 |
16-53859986-A-T |
c.334A>T |
p.R112W |
Missense |
3/9 |
- |
1 |
16-53859992-TT-CG |
c.340_341delinsCG |
p.F114R |
Missense |
3/9 |
- |
1 |
16-53859992-TT-GA |
c.340_341delinsGA |
p.F114D |
Missense |
3/9 |
- |
3 |
16-53859994-T-A |
c.342T>A |
p.F114L |
Missense |
3/9 |
- |
1 |
16-53859996-C-T |
c.344C>T |
p.T115M |
Missense |
3/9 |
- |
2 |
16-53859998-G-C |
c.346G>C |
p.V116L |
Missense |
3/9 |
- |
1 |
16-53859998-G-T |
c.346G>T |
p.V116F |
Missense |
3/9 |
- |
1 |
16-53859999-T-C |
c.347T>C |
p.V116A |
Missense |
3/9 |
- |
1 |
16-53860001-C-T |
c.349C>T |
p.P117S |
Missense |
3/9 |
- |
1 |
16-53860002-CC-AA |
c.350_351delinsAA |
p.P117Q |
Missense |
3/9 |
- |
1 |
16-53860002-C-T |
c.350C>T |
p.P117L |
Missense |
3/9 |
- |
1 |
16-53860003-C-A |
c.351C>A |
p.P117= |
Synonymous |
3/9 |
- |
1 |
16-53860003-C-G |
c.351C>G |
p.P117= |
Synonymous |
3/9 |
- |
1 |
16-53860003-C-T |
c.351C>T |
p.P117= |
Synonymous |
3/9 |
- |
1 |
16-53860010-G-A |
c.358G>A |
p.V120M |
Missense |
3/9 |
- |
1 |
16-53860013-A-C |
c.361A>C |
p.K121Q |
Missense |
3/9 |
- |
33 |
16-53860020-C-T |
c.368C>T |
p.S123F |
Missense |
3/9 |
- |
1 |
16-53860029-A-C |
c.377A>C |
p.K126T |
Missense |
3/9 |
- |
1 |
16-53860031-C-T |
c.379C>T |
p.H127Y |
Missense |
3/9 |
- |
1 |
16-53860036-C-T |
c.384C>T |
p.T128= |
Synonymous |
3/9 |
- |
1 |
16-53860037-G-A |
c.385G>A |
p.E129K |
Missense |
3/9 |
- |
2 |
16-53860048-A-G |
c.396A>G |
p.I132M |
Missense |
3/9 |
- |
1 |
16-53860049-G-A |
c.397G>A |
p.A133T |
Missense |
3/9 |
- |
1 |
16-53860049-GC-CA |
c.397_398delinsCA |
p.A133H |
Missense |
3/9 |
- |
2 |
16-53860052-G-A |
c.400G>A |
p.A134T |
Missense |
3/9 |
- |
14 |
16-53860052-G-T |
c.400G>T |
p.A134S |
Missense |
3/9 |
- |
1 |
16-53860060-T-C |
c.408T>C |
p.C136= |
Synonymous |
3/9 |
- |
1 |
16-53860070-C-T |
c.418C>T |
p.L140F |
Missense |
3/9 |
- |
2 |
16-53860070-CTC-ATG |
c.418_420delinsATG |
p.L140M |
Missense |
3/9 |
- |
1 |
16-53860079-A-C |
c.427A>C |
p.N143H |
Missense |
3/9 |
- |
1 |
16-53860080-A-G |
c.428A>G |
p.N143S |
Missense |
3/9 |
- |
9 |
16-53860082-G-A |
c.430G>A |
p.D144N |
Missense |
3/9 |
- |
9 |
16-53860086-A-G |
c.434A>G |
p.Y145C |
Missense |
3/9 |
- |
1 |
16-53860088-C-A |
c.436C>A |
p.L146M |
Missense |
3/9 |
- |
6 |
16-53860088-C-T |
c.436C>T |
p.L146= |
Synonymous |
3/9 |
- |
1 |
16-53860090-G-A |
c.438G>A |
p.L146= |
Synonymous |
3/9 |
- |
1 |
16-53860090-G-C |
c.438G>C |
p.L146= |
Synonymous |
3/9 |
- |
1 |
16-53860090-G-T |
c.438G>T |
p.L146= |
Synonymous |
3/9 |
- |
1 |
16-53860093-G-C |
c.441G>C |
p.Q147H |
Missense |
3/9 |
- |
1 |
16-53860093-G-T |
c.441G>T |
p.Q147H |
Missense |
3/9 |
- |
2 |
16-53860095-T-G |
c.443T>G |
p.I148R |
Missense |
3/9 |
- |
2 |
16-53860096-A-G |
c.444A>G |
p.I148M |
Missense |
3/9 |
- |
3 |
16-53860100-ACC-GAG |
c.448_450delinsGAG |
p.T150E |
Missense |
3/9 |
- |
1 |
16-53860100-A-G |
c.448A>G |
p.T150A |
Missense |
3/9 |
- |
2 |
16-53860105-C-G |
c.453C>G |
p.I151M |
Missense |
3/9 |
- |
3 |
16-53860109-GGCT-G |
c.457_459del |
p.A153del |
InFrameDeletion |
3/9 |
- |
1 |
16-53860112-T-C |
c.460T>C |
p.L154= |
Synonymous |
3/9 |
- |
1 |
16-53860114-G-A |
c.462G>A |
p.L154= |
Synonymous |
3/9 |
- |
2 |
16-53860115-G-A |
c.463G>A |
p.E155K |
Missense |
3/9 |
- |
1 |
16-53860117-A-C |
c.465A>C |
p.E155D |
Missense |
3/9 |
- |
1 |
16-53860117-A-T |
c.465A>T |
p.E155D |
Missense |
3/9 |
- |
1 |
16-53860125-C-T |
c.473C>T |
p.A158V |
Missense |
3/9 |
- |
1 |
16-53860128-C-T |
c.476C>T |
p.A159V |
Missense |
3/9 |
- |
1 |
16-53860131-A-G |
c.479A>G |
p.K160R |
Missense |
3/9 |
- |
1 |
16-53860134-A-G |
c.482A>G |
p.E161G |
Missense |
3/9 |
- |
3 |
16-53860139-G-A |
c.487G>A |
p.A163T |
Missense |
3/9 |
- |
16 |
16-53860140-C-G |
c.488C>G |
p.A163G |
Missense |
3/9 |
- |
1 |
16-53860143-A-G |
c.491A>G |
p.N164S |
Missense |
3/9 |
- |
1 |
16-53860149-A-T |
c.497A>T |
p.D166V |
Missense |
3/9 |
- |
1 |
16-53860157-C-G |
c.505C>G |
p.P169A |
Missense |
3/9 |
- |
1 |
16-53860161-T-G |
c.509T>G |
p.L170W |
Missense |
3/9 |
- |
1 |
16-53860164-G-T |
c.512G>T |
p.C171F |
Missense |
3/9 |
- |
1 |
16-53860174-A-C |
c.522A>C |
p.A174= |
Synonymous |
3/9 |
- |
1 |
16-53860174-A-G |
c.522A>G |
p.A174= |
Synonymous |
3/9 |
- |
1 |
16-53860174-A-T |
c.522A>T |
p.A174= |
Synonymous |
3/9 |
- |
1 |
16-53860175-G-T |
c.523G>T |
p.D175Y |
Missense |
3/9 |
- |
3 |
16-53860176-A-C |
c.524A>C |
p.D175A |
Missense |
3/9 |
- |
1 |
16-53860181-C-T |
c.529C>T |
p.P177S |
Missense |
3/9 |
- |
2 |
16-53860184-AGG-CAT |
c.532_534delinsCAT |
p.R178H |
Missense |
3/9 |
- |
1 |
16-53860187-G-T |
c.535G>T |
p.V179F |
Missense |
3/9 |
- |
1 |
16-53860192-G-A |
c.540G>A |
p.G180= |
Synonymous |
3/9 |
- |
1 |
16-53860192-G-C |
c.540G>C |
p.G180= |
Synonymous |
3/9 |
- |
1 |
16-53860192-G-T |
c.540G>T |
p.G180= |
Synonymous |
3/9 |
- |
2 |
16-53860194-T-C |
c.542T>C |
p.M181T |
Missense |
3/9 |
- |
1 |
16-53860197-G-A |
c.545G>A |
p.G182D |
Missense |
3/9 |
- |
1 |
16-53860197-G-C |
c.545G>C |
p.G182A |
Missense |
3/9 |
- |
6 |
16-53860202-TC-GA |
c.550_551inv |
p.S184D |
Missense |
3/9 |
- |
1 |
16-53860206-A-G |
c.554A>G |
p.Y185C |
Missense |
3/9 |
- |
1 |
16-53860207-C-A |
c.555C>A |
p.Y185* |
Nonsense |
3/9 |
- |
1 |
16-53860207-C-G |
c.555C>G |
p.Y185* |
Nonsense |
3/9 |
- |
1 |
16-53860210-C-T |
c.558C>T |
p.N186= |
Synonymous |
3/9 |
- |
5 |
16-53860211-G-A |
c.559G>A |
p.G187R |
UnclassifiedSNV |
3/9 |
- |
8 |
16-53860211-G-C |
c.559G>C |
p.G187R |
Missense |
3/9 |
- |
4 |
16-53860212-G-C |
c.560G>C |
p.G187A |
Missense |
3/9 |
- |
1 |
16-53860213-A-G |
c.561A>G |
p.G187= |
Synonymous |
3/9 |
- |
1 |
16-53860217-G-A |
c.565G>A |
p.D189N |
Missense |
3/9 |
- |
1 |
16-53860225-G-A |
c.573G>A |
p.V191= |
Synonymous |
3/9 |
- |
3 |
16-53860225-G-C |
c.573G>C |
p.V191= |
Synonymous |
3/9 |
- |
3 |
16-53860225-G-T |
c.573G>T |
p.V191= |
Synonymous |
3/9 |
- |
3 |
16-53860226-G-C |
c.574G>C |
p.D192H |
UnclassifiedSNV |
3/9 |
- |
5 |
16-53860227-A-G |
c.575A>G |
p.D192G |
Missense |
3/9 |
- |
1 |
16-53860241-G-A |
c.589G>A |
p.A197T |
Missense |
3/9 |
- |
1 |
16-53860242-C-T |
c.590C>T |
p.A197V |
Missense |
3/9 |
- |
1 |
16-53860247-TAC-GAG |
c.595_597delinsGAG |
p.Y199E |
Missense |
3/9 |
- |
1 |
16-53860249-C-T |
c.597C>T |
p.Y199= |
Synonymous |
3/9 |
- |
1 |
16-53860251-A-G |
c.599A>G |
p.N200S |
Missense |
3/9 |
- |
3 |
16-53860253-G-A |
c.601G>A |
p.V201I |
Missense |
3/9 |
- |
6 |
16-53860259-T-G |
c.607T>G |
p.L203V |
Missense |
3/9 |
- |
1 |
16-53860265-A-T |
c.613A>T |
p.N205Y |
Missense |
3/9 |
- |
1 |
16-53860267-T-A |
c.615T>A |
p.N205K |
Missense |
3/9 |
- |
2 |
16-53860270-C-T |
c.618C>T |
p.F206= |
Synonymous |
3/9 |
- |
1 |
16-53860271-A-G |
c.619A>G |
p.M207V |
Missense |
3/9 |
- |
2 |
16-53860278-C-A |
c.626C>A |
p.P209H |
Missense |
3/9 |
- |
1 |
16-53860280-C-T |
c.628C>T |
p.Q210* |
Nonsense |
3/9 |
- |
1 |
16-53860289-C-T |
c.637C>T |
p.P213S |
Missense |
3/9 |
- |
2 |
16-53860292-T-C |
c.640T>C |
p.Y214H |
Missense |
3/9 |
- |
1 |
16-53860294-C-T |
c.642C>T |
p.Y214= |
Synonymous |
3/9 |
- |
1 |
16-53860295-C-T |
c.643C>T |
p.L215= |
Synonymous |
3/9 |
- |
1 |
16-53860297-G-A |
c.645G>A |
p.L215= |
Synonymous |
3/9 |
- |
2 |
16-53860297-G-C |
c.645G>C |
p.L215= |
Synonymous |
3/9 |
- |
1 |
16-53860297-G-T |
c.645G>T |
p.L215= |
Synonymous |
3/9 |
- |
1 |
16-53860298-AAA-CAT |
c.646_648delinsCAT |
p.K216H |
Missense |
3/9 |
- |
1 |
16-53860298-AA-GC |
c.646_647delinsGC |
p.K216A |
Missense |
3/9 |
- |
1 |
16-53860298-A-G |
c.646A>G |
p.K216E |
Missense |
3/9 |
- |
1 |
16-53860299-AA-GC |
c.647_648delinsGC |
p.K216S |
Missense |
3/9 |
- |
1 |
16-53860299-A-G |
c.647A>G |
p.K216R |
Missense |
3/9 |
- |
4 |
16-53860303-G-A |
c.651G>A |
p.E217= |
Synonymous |
3/9 |
- |
1 |
16-53860303-G-C |
c.651G>C |
p.E217D |
Missense |
3/9 |
- |
1 |
16-53860303-G-T |
c.651G>T |
p.E217D |
Missense |
3/9 |
- |
1 |
16-53860305-A-C |
c.653A>C |
p.E218A |
Missense |
3/9 |
- |
1 |
16-53860307-C-A |
c.655C>A |
p.P219T |
Missense |
3/9 |
- |
1 |
16-53860311-A-AT |
c.663dup |
p.G222Wfs*12 |
Frameshift |
3/9 |
- |
1 |
16-53860311-AT-A |
c.663del |
p.F221Lfs*8 |
Frameshift |
3/9 |
- |
1 |
16-53860316-G-C |
c.664G>C |
p.G222R |
Missense |
3/9 |
- |
1 |
16-53860317-G-C |
c.665G>C |
p.G222A |
Missense |
3/9 |
- |
1 |
16-53860319-A-G |
c.667A>G |
p.M223V |
Missense |
3/9 |
- |
4 |
16-53860321-G-A |
c.669G>A |
p.M223I |
Missense |
3/9 |
- |
3 |
16-53860321-G-C |
c.669G>C |
p.M223I |
Missense |
3/9 |
- |
2 |
16-53860321-G-T |
c.669G>T |
p.M223I |
Missense |
3/9 |
- |
2 |
16-53860322-G-A |
c.670G>A |
p.G224R |
Missense |
3/9 |
- |
2 |
16-53860323-G-A |
c.671G>A |
p.G224E |
Missense |
3/9 |
- |
1 |
16-53860324-G-A |
c.672G>A |
p.G224= |
Synonymous |
3/9 |
- |
1 |
16-53860331-G-T |
c.679G>T |
p.A227S |
Missense |
3/9 |
- |
1 |
16-53860332-C-G |
c.680C>G |
p.A227G |
Missense |
3/9 |
- |
2 |
16-53860333-A-C |
c.681A>C |
p.A227= |
Synonymous |
3/9 |
- |
1 |
16-53860333-A-G |
c.681A>G |
p.A227= |
Synonymous |
3/9 |
- |
1 |
16-53860333-A-T |
c.681A>T |
p.A227= |
Synonymous |
3/9 |
- |
1 |
16-53860337-AG-GC |
c.685_686delinsGC |
p.S229A |
Missense |
3/9 |
- |
2 |
16-53860343-CA-GC |
c.691_692delinsGC |
p.H231A |
Missense |
3/9 |
- |
26 |
16-53860344-A-G |
c.692A>G |
p.H231R |
Missense |
3/9 |
- |
1 |
16-53860350-A-C |
c.698A>C |
p.D233A |
Missense |
3/9 |
- |
20 |
16-53860352-G-A |
c.700G>A |
p.E234K |
Missense |
3/9 |
- |
2 |
16-53860352-GA-CC |
c.700_701delinsCC |
p.E234P |
Missense |
3/9 |
- |
4 |
16-53860353-A-C |
c.701A>C |
p.E234A |
Missense |
3/9 |
- |
1 |
16-53860354-A-C |
c.702A>C |
p.E234D |
Missense |
3/9 |
- |
2 |
16-53860354-A-T |
c.702A>T |
p.E234D |
Missense |
3/9 |
- |
2 |
16-53860355-A-C |
c.703A>C |
p.N235H |
Missense |
3/9 |
- |
1 |
16-53860355-A-T |
c.703A>T |
p.N235Y |
Missense |
3/9 |
- |
2 |
16-53860357-T-C |
c.705T>C |
p.N235= |
Synonymous |
3/9 |
- |
1 |
16-53860358-CTG-ATC |
c.706_708delinsATC |
p.L236I |
Missense |
3/9 |
- |
1 |
16-53860361-G-A |
c.709G>A |
p.V237M |
Missense |
3/9 |
- |
1 |
16-53860363-G-A |
c.711G>A |
p.V237= |
Synonymous |
3/9 |
- |
1 |
16-53860367-AG-CA |
c.715_716delinsCA |
p.R239Q |
Missense |
3/9 |
- |
1 |
16-53860371-C-G |
c.719C>G |
p.S240* |
Nonsense |
3/9 |
- |
1 |
16-53860371-C-T |
c.719C>T |
p.S240L |
Missense |
3/9 |
- |
2 |
16-53860373-G-A |
c.721G>A |
p.A241T |
Missense |
3/9 |
- |
3 |
16-53860374-C-T |
c.722C>T |
p.A241V |
Missense |
3/9 |
- |
1 |
16-53860379-G-A |
c.727G>A |
p.A243T |
Missense |
3/9 |
- |
2 |
16-53860381-A-C |
c.729A>C |
p.A243= |
Synonymous |
3/9 |
- |
1 |
16-53860381-A-G |
c.729A>G |
p.A243= |
Synonymous |
3/9 |
- |
1 |
16-53860381-A-T |
c.729A>T |
p.A243= |
Synonymous |
3/9 |
- |
1 |
16-53860382-G-A |
c.730G>A |
p.V244M |
Missense |
3/9 |
- |
1 |
16-53860385-T-C |
c.733T>C |
p.Y245H |
Missense |
3/9 |
- |
2 |
16-53860388-A-G |
c.736A>G |
p.S246G |
Missense |
3/9 |
- |
1 |
16-53860389-G-T |
c.737G>T |
p.S246I |
Missense |
3/9 |
- |
4 |
16-53860390-T-A |
c.738T>A |
p.S246R |
Missense |
3/9 |
- |
1 |
16-53860403-G-A |
c.751G>A |
p.G251S |
Missense |
3/9 |
- |
1 |
16-53860407-C-T |
c.751+4C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53860481-G-A |
c.751+78G>A |
- |
IntronicSNV |
- |
3/8 |
9 |
16-53860656-G-A |
c.751+253G>A |
- |
IntronicSNV |
- |
3/8 |
2 |
16-53860662-A-G |
c.751+259A>G |
- |
IntronicSNV |
- |
3/8 |
2 |
16-53860662-A-T |
c.751+259A>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53860665-G-A |
c.751+262G>A |
- |
IntronicSNV |
- |
3/8 |
2 |
16-53861024-A-G |
c.751+621A>G |
- |
IntronicSNV |
- |
3/8 |
4 |
16-53861139-C-T |
c.751+736C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53861474-GA-G |
c.751+1079del |
- |
IntronicDeletion |
- |
3/8 |
1 |
16-53861592-G-A |
c.751+1189G>A |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53862212-A-G |
c.751+1809A>G |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53862262-G-A |
c.751+1859G>A |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53864400-C-G |
c.751+3997C>G |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53864400-C-T |
c.751+3997C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53865126-G-A |
c.751+4723G>A |
- |
IntronicSNV |
- |
3/8 |
4 |
16-53865226-G-C |
c.751+4823G>C |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53865730-T-C |
c.751+5327T>C |
- |
IntronicSNV |
- |
3/8 |
4 |
16-53865975-C-T |
c.751+5572C>T |
- |
IntronicSNV |
- |
3/8 |
5 |
16-53867459-C-T |
c.751+7056C>T |
- |
IntronicSNV |
- |
3/8 |
5 |
16-53869366-A-C |
c.752-8701A>C |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53871806-T-G |
c.752-6261T>G |
- |
IntronicSNV |
- |
3/8 |
12 |
16-53871903-A-C |
c.752-6164A>C |
- |
IntronicSNV |
- |
3/8 |
4 |
16-53873103-G-T |
c.752-4964G>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53873428-G-A |
c.752-4639G>A |
- |
IntronicSNV |
- |
3/8 |
3 |
16-53873666-A-G |
c.752-4401A>G |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53874580-C-T |
c.752-3487C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53874657-C-T |
c.752-3410C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53874918-C-T |
c.752-3149C>T |
- |
IntronicSNV |
- |
3/8 |
2 |
16-53875016-A-G |
c.752-3051A>G |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53875484-G-T |
c.752-2583G>T |
- |
IntronicSNV |
- |
3/8 |
3 |
16-53875712-G-C |
c.752-2355G>C |
- |
IntronicSNV |
- |
3/8 |
7 |
16-53876149-G-C |
c.752-1918G>C |
- |
IntronicSNV |
- |
3/8 |
5 |
16-53876444-C-T |
c.752-1623C>T |
- |
IntronicSNV |
- |
3/8 |
5 |
16-53876566-C-T |
c.752-1501C>T |
- |
IntronicSNV |
- |
3/8 |
3 |
16-53876751-C-A |
c.752-1316C>A |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53876751-C-T |
c.752-1316C>T |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53876862-G-A |
c.752-1205G>A |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53876862-G-C |
c.752-1205G>C |
- |
IntronicSNV |
- |
3/8 |
1 |
16-53877592-T-C |
c.752-475T>C |
- |
IntronicSNV |
- |
3/8 |
2 |
16-53878067-G-A |
c.752G>A |
p.G251D |
Missense |
4/9 |
- |
1 |
16-53878069-C-T |
c.754C>T |
p.P252S |
Missense |
4/9 |
- |
3 |
16-53878072-G-C |
c.757G>C |
p.E253Q |
Missense |
4/9 |
- |
4 |
16-53878081-AG-GA |
c.766_767delinsGA |
p.S256D |
Missense |
4/9 |
- |
2 |
16-53878082-G-A |
c.767G>A |
p.S256N |
Missense |
4/9 |
- |
10 |
16-53878081-A-C |
c.766A>C |
p.S256R |
Missense |
4/9 |
- |
3 |
16-53878083-T-A |
c.768T>A |
p.S256R |
Missense |
4/9 |
- |
3 |
16-53878083-T-C |
c.768T>C |
p.S256= |
Synonymous |
4/9 |
- |
1 |
16-53878083-T-G |
c.768T>G |
p.S256R |
Missense |
4/9 |
- |
4 |
16-53878084-G-C |
c.769G>C |
p.E257Q |
Missense |
4/9 |
- |
1 |
16-53878088-A-G |
c.773A>G |
p.D258G |
Missense |
4/9 |
- |
3 |
16-53878090-G-A |
c.775G>A |
p.D259N |
Missense |
4/9 |
- |
1 |
16-53878093-TC-GA |
c.778_779inv |
p.S260D |
Missense |
4/9 |
- |
1 |
16-53878094-C-A |
c.779C>A |
p.S260Y |
Missense |
4/9 |
- |
2 |
16-53878094-C-G |
c.779C>G |
p.S260C |
Missense |
4/9 |
- |
2 |
16-53878094-C-T |
c.779C>T |
p.S260F |
Missense |
4/9 |
- |
4 |
16-53878096-C-T |
c.781C>T |
p.H261Y |
Missense |
4/9 |
- |
1 |
16-53878098-T-A |
c.783T>A |
p.H261Q |
Missense |
4/9 |
- |
2 |
16-53878098-T-G |
c.783T>G |
p.H261Q |
Missense |
4/9 |
- |
1 |
16-53878099-C-T |
c.784C>T |
p.L262F |
Missense |
4/9 |
- |
1 |
16-53878101-C-T |
c.786C>T |
p.L262= |
Synonymous |
4/9 |
- |
1 |
16-53878102-G-A |
c.787G>A |
p.E263K |
Missense |
4/9 |
- |
2 |
16-53878104-A-G |
c.789A>G |
p.E263= |
Synonymous |
4/9 |
- |
3 |
16-53878105-GGC-TGG |
c.790_792delinsTGG |
p.G264W |
Missense |
4/9 |
- |
1 |
16-53878106-G-A |
c.791G>A |
p.G264D |
Missense |
4/9 |
- |
1 |
16-53878106-G-C |
c.791G>C |
p.G264A |
Missense |
4/9 |
- |
1 |
16-53878108-A-G |
c.793A>G |
p.R265G |
Missense |
4/9 |
- |
1 |
16-53878108-AG-CA |
c.793_794delinsCA |
p.R265Q |
Missense |
4/9 |
- |
1 |
16-53878108-AGG-CAT |
c.793_795delinsCAT |
p.R265H |
Missense |
4/9 |
- |
1 |
16-53878109-G-A |
c.794G>A |
p.R265K |
Missense |
4/9 |
- |
2 |
16-53878111-G-A |
c.796G>A |
p.D266N |
Missense |
4/9 |
- |
1 |
16-53878115-C-A |
c.800C>A |
p.P267H |
Missense |
4/9 |
- |
1 |
16-53878118-A-G |
c.803A>G |
p.D268G |
Missense |
4/9 |
- |
1 |
16-53878124-G-A |
c.809G>A |
p.W270* |
Nonsense |
4/9 |
- |
1 |
16-53878125-G-A |
c.810G>A |
p.W270* |
Nonsense |
4/9 |
- |
2 |
16-53878127-A-C |
c.812A>C |
p.H271P |
Missense |
4/9 |
- |
2 |
16-53878127-A-G |
c.812A>G |
p.H271R |
Missense |
4/9 |
- |
1 |
16-53878132-G-A |
c.817G>A |
p.G273S |
Missense |
4/9 |
- |
1 |
16-53878156-G-A |
c.841G>A |
p.E281K |
Missense |
4/9 |
- |
1 |
16-53878157-A-T |
c.842A>T |
p.E281V |
Missense |
4/9 |
- |
1 |
16-53878158-G-A |
c.843G>A |
p.E281= |
Synonymous |
4/9 |
- |
1 |
16-53878162-C-A |
c.847C>A |
p.P283T |
Missense |
4/9 |
- |
1 |
16-53878165-G-A |
c.850G>A |
p.G284S |
Missense |
4/9 |
- |
1 |
16-53878169-TGGC-T |
c.856_858del |
p.A286del |
InFrameDeletion |
4/9 |
- |
1 |
16-53878171-G-A |
c.856G>A |
p.A286T |
Missense |
4/9 |
- |
1 |
16-53878172-C-T |
c.857C>T |
p.A286V |
Missense |
4/9 |
- |
3 |
16-53878173-G-A |
c.858G>A |
p.A286= |
Synonymous |
4/9 |
- |
1 |
16-53878173-G-C |
c.858G>C |
p.A286= |
Synonymous |
4/9 |
- |
1 |
16-53878173-G-T |
c.858G>T |
p.A286= |
Synonymous |
4/9 |
- |
1 |
16-53878175-T-C |
c.860T>C |
p.I287T |
Missense |
4/9 |
- |
1 |
16-53878181-T-C |
c.866T>C |
p.L289P |
Missense |
4/9 |
- |
1 |
16-53878184-A-C |
c.869A>C |
p.H290P |
Missense |
4/9 |
- |
1 |
16-53878184-A-G |
c.869A>G |
p.H290R |
Missense |
4/9 |
- |
1 |
16-53878186-C-T |
c.871C>T |
p.Q291* |
Nonsense |
4/9 |
- |
2 |
16-53878192-G-A |
c.877G>A |
p.D293N |
Missense |
4/9 |
- |
1 |
16-53878198-T-C |
c.883T>C |
p.Y295H |
Missense |
4/9 |
- |
1 |
16-53878199-A-G |
c.884A>G |
p.Y295C |
Missense |
4/9 |
- |
1 |
16-53878203-C-T |
c.888C>T |
p.F296= |
Synonymous |
4/9 |
- |
1 |
16-53878205-T-C |
c.890T>C |
p.M297T |
Missense |
4/9 |
- |
1 |
16-53878207-C-T |
c.892C>T |
p.L298F |
Missense |
4/9 |
- |
1 |
16-53878210-G-C |
c.895G>C |
p.D299H |
Missense |
4/9 |
- |
1 |
16-53878247-A-G |
c.895+37A>G |
- |
IntronicSNV |
- |
4/8 |
9 |
16-53878247-A-T |
c.895+37A>T |
- |
IntronicSNV |
- |
4/8 |
6 |
16-53878327-C-G |
c.895+117C>G |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53878327-C-T |
c.895+117C>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53878433-A-G |
c.895+223A>G |
- |
IntronicSNV |
- |
4/8 |
3 |
16-53881847-C-T |
c.895+3637C>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53882657-C-T |
c.895+4447C>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53883452-T-C |
c.895+5242T>C |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53885683-A-G |
c.895+7473A>G |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53886113-G-C |
c.895+7903G>C |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53886224-A-G |
c.895+8014A>G |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53887738-A-G |
c.895+9528A>G |
- |
IntronicSNV |
- |
4/8 |
2 |
16-53891380-T-TA |
c.895+13170_895+13171insA |
- |
IntronicInsertion |
- |
4/8 |
1 |
16-53891380-T-TATA |
c.895+13170_895+13171insATA |
- |
IntronicInsertion |
- |
4/8 |
1 |
16-53891380-T-TG |
c.895+13170_895+13171insG |
- |
IntronicInsertion |
- |
4/8 |
1 |
16-53891973-T-A |
c.895+13763T>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53891973-T-C |
c.895+13763T>C |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53895804-A-G |
c.896-11894A>G |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53898024-G-A |
c.896-9674G>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53898362-C-T |
c.896-9336C>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53899008-A-T |
c.896-8690A>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53899563-C-A |
c.896-8135C>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53899563-C-T |
c.896-8135C>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53901293-G-A |
c.896-6405G>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53903689-A-G |
c.896-4009A>G |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53905156-G-A |
c.896-2542G>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53905156-G-T |
c.896-2542G>T |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53906852-T-A |
c.896-846T>A |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53906852-T-C |
c.896-846T>C |
- |
IntronicSNV |
- |
4/8 |
1 |
16-53907498-G-A |
c.896-200G>A |
- |
IntronicSNV |
- |
4/8 |
3 |
16-53907498-G-T |
c.896-200G>T |
- |
IntronicSNV |
- |
4/8 |
3 |
16-53907698-A-C |
c.896A>C |
p.D299A |
Missense |
5/9 |
- |
1 |
16-53907698-A-G |
c.896A>G |
p.D299G |
Missense |
5/9 |
- |
1 |
16-53907711-C-T |
c.909C>T |
p.A303= |
Synonymous |
5/9 |
- |
2 |
16-53907714-C-A |
c.912C>A |
p.T304= |
Synonymous |
5/9 |
- |
1 |
16-53907714-C-G |
c.912C>G |
p.T304= |
Synonymous |
5/9 |
- |
1 |
16-53907714-C-T |
c.912C>T |
p.T304= |
Synonymous |
5/9 |
- |
1 |
16-53907718-C-A |
c.916C>A |
p.Q306K |
Missense |
5/9 |
- |
2 |
16-53907720-A-T |
c.918A>T |
p.Q306H |
Missense |
5/9 |
- |
1 |
16-53907721-CA-GC |
c.919_920delinsGC |
p.H307A |
Missense |
5/9 |
- |
1 |
16-53907721-C-T |
c.919C>T |
p.H307Y |
Missense |
5/9 |
- |
2 |
16-53907724-T-C |
c.922T>C |
p.C308R |
Missense |
5/9 |
- |
1 |
16-53907725-G-T |
c.923G>T |
p.C308F |
Missense |
5/9 |
- |
2 |
16-53907726-T-C |
c.924T>C |
p.C308= |
Synonymous |
5/9 |
- |
1 |
16-53907733-G-T |
c.931G>T |
p.A311S |
Missense |
5/9 |
- |
1 |
16-53907734-C-T |
c.932C>T |
p.A311V |
Missense |
5/9 |
- |
8 |
16-53907736-G-A |
c.934G>A |
p.G312S |
Missense |
5/9 |
- |
5 |
16-53907738-T-C |
c.936T>C |
p.G312= |
Synonymous |
5/9 |
- |
4 |
16-53907739-TC-AG |
c.937_938delinsAG |
p.S313R |
Missense |
5/9 |
- |
1 |
16-53907741-A-C |
c.939A>C |
p.S313= |
Synonymous |
5/9 |
- |
1 |
16-53907741-A-G |
c.939A>G |
p.S313= |
Synonymous |
5/9 |
- |
1 |
16-53907741-A-T |
c.939A>T |
p.S313= |
Synonymous |
5/9 |
- |
1 |
16-53907742-CAA-ATG |
c.940_942delinsATG |
p.Q314M |
Missense |
5/9 |
- |
1 |
16-53907743-A-T |
c.941A>T |
p.Q314L |
Missense |
5/9 |
- |
1 |
16-53907748-CG-GA |
c.946_947delinsGA |
p.R316E |
Missense |
5/9 |
- |
1 |
16-53907748-CG-GC |
c.946_947delinsGC |
p.R316A |
Missense |
5/9 |
- |
4 |
16-53907748-C-T |
c.946C>T |
p.R316W |
Missense |
5/9 |
- |
2 |
16-53907749-G-A |
c.947G>A |
p.R316Q |
Missense |
5/9 |
- |
53 |
16-53907749-G-T |
c.947G>T |
p.R316L |
Missense |
5/9 |
- |
1 |
16-53907751-T-A |
c.949T>A |
p.F317I |
Missense |
5/9 |
- |
2 |
16-53907755-G-T |
c.953G>T |
p.S318I |
Missense |
5/9 |
- |
4 |
16-53907758-C-T |
c.956C>T |
p.S319F |
Missense |
5/9 |
- |
4 |
16-53907761-C-A |
c.959C>A |
p.T320N |
Missense |
5/9 |
- |
1 |
16-53907764-A-C |
c.962A>C |
p.H321P |
Missense |
5/9 |
- |
1 |
16-53907765-C-T |
c.963C>T |
p.H321= |
Synonymous |
5/9 |
- |
4 |
16-53907766-C-A |
c.964C>A |
p.R322= |
Synonymous |
5/9 |
- |
1 |
16-53907766-C-T |
c.964C>T |
p.R322* |
Nonsense |
5/9 |
- |
8 |
16-53907768-A-C |
c.966A>C |
p.R322= |
Synonymous |
5/9 |
- |
1 |
16-53907768-A-G |
c.966A>G |
p.R322= |
Synonymous |
5/9 |
- |
1 |
16-53907768-A-T |
c.966A>T |
p.R322= |
Synonymous |
5/9 |
- |
1 |
16-53907767-G-A |
c.965G>A |
p.R322Q |
Missense |
5/9 |
- |
10 |
16-53907776-A-T |
c.974A>T |
p.E325V |
Missense |
5/9 |
- |
2 |
16-53908484-T-C |
c.975+707T>C |
- |
IntronicSNV |
- |
5/8 |
1 |
16-53908657-T-C |
c.975+880T>C |
- |
IntronicSNV |
- |
5/8 |
2 |
16-53909185-G-A |
c.975+1408G>A |
- |
IntronicSNV |
- |
5/8 |
5 |
16-53909185-G-T |
c.975+1408G>T |
- |
IntronicSNV |
- |
5/8 |
5 |
16-53910261-A-C |
c.975+2484A>C |
- |
IntronicSNV |
- |
5/8 |
2 |
16-53910261-A-T |
c.975+2484A>T |
- |
IntronicSNV |
- |
5/8 |
2 |
16-53911770-G-A |
c.976-1986G>A |
- |
IntronicSNV |
- |
5/8 |
1 |
16-53911770-G-T |
c.976-1986G>T |
- |
IntronicSNV |
- |
5/8 |
1 |
16-53912364-T-A |
c.976-1392T>A |
- |
IntronicSNV |
- |
5/8 |
2 |
16-53913756-T-A |
c.976T>A |
p.C326S |
Missense |
6/9 |
- |
2 |
16-53913756-T-C |
c.976T>C |
p.C326R |
Missense |
6/9 |
- |
1 |
16-53913757-G-C |
c.977G>C |
p.C326S |
Missense |
6/9 |
- |
1 |
16-53913758-C-T |
c.978C>T |
p.C326= |
Synonymous |
6/9 |
- |
1 |
16-53913760-C-A |
c.980C>A |
p.S327* |
Nonsense |
6/9 |
- |
1 |
16-53913760-C-G |
c.980C>G |
p.S327* |
Nonsense |
6/9 |
- |
1 |
16-53913764-A-G |
c.984A>G |
p.T328= |
Synonymous |
6/9 |
- |
2 |
16-53913765-G-T |
c.985G>T |
p.G329* |
Nonsense |
6/9 |
- |
1 |
16-53913769-C-T |
c.989C>T |
p.T330I |
Missense |
6/9 |
- |
1 |
16-53913775-A-G |
c.995A>G |
p.D332G |
Missense |
6/9 |
- |
2 |
16-53913778-A-G |
c.998A>G |
p.Y333C |
Missense |
6/9 |
- |
2 |
16-53913779-T-C |
c.999T>C |
p.Y333= |
Synonymous |
6/9 |
- |
1 |
16-53913782-T-A |
c.1002T>A |
p.I334= |
Synonymous |
6/9 |
- |
2 |
16-53913782-T-C |
c.1002T>C |
p.I334= |
Synonymous |
6/9 |
- |
2 |
16-53913788-A-G |
c.1008A>G |
p.Q336= |
Synonymous |
6/9 |
- |
1 |
16-53913789-C-T |
c.1009C>T |
p.R337C |
Missense |
6/9 |
- |
7 |
16-53913790-G-A |
c.1010G>A |
p.R337H |
Missense |
6/9 |
- |
6 |
16-53913791-C-A |
c.1011C>A |
p.R337= |
Synonymous |
6/9 |
- |
1 |
16-53913791-C-G |
c.1011C>G |
p.R337= |
Synonymous |
6/9 |
- |
1 |
16-53913791-C-T |
c.1011C>T |
p.R337= |
Synonymous |
6/9 |
- |
2 |
16-53913792-T-C |
c.1012T>C |
p.C338R |
Missense |
6/9 |
- |
2 |
16-53913792-T-G |
c.1012T>G |
p.C338G |
Missense |
6/9 |
- |
1 |
16-53913794-T-C |
c.1014T>C |
p.C338= |
Synonymous |
6/9 |
- |
2 |
16-53913795-C-T |
c.1015C>T |
p.Q339* |
Nonsense |
6/9 |
- |
1 |
16-53913797-G-T |
c.1017G>T |
p.Q339H |
Missense |
6/9 |
- |
1 |
16-53913798-TT-AG |
c.1018_1019delinsAG |
p.L340R |
Missense |
6/9 |
- |
1 |
16-53913814-T-A |
c.1034T>A |
p.V345D |
Missense |
6/9 |
- |
2 |
16-53913821-C-T |
c.1041C>T |
p.D347= |
Synonymous |
6/9 |
- |
1 |
16-53913822-G-A |
c.1042G>A |
p.D348N |
Missense |
6/9 |
- |
7 |
16-53913825-GTG-TTT |
c.1045_1047delinsTTT |
p.V349F |
Missense |
6/9 |
- |
1 |
16-53913827-G-C |
c.1047G>C |
p.V349= |
Synonymous |
6/9 |
- |
2 |
16-53913832-A-G |
c.1052A>G |
p.N351S |
Missense |
6/9 |
- |
2 |
16-53913833-T-C |
c.1053T>C |
p.N351= |
Synonymous |
6/9 |
- |
1 |
16-53913834-G-T |
c.1054G>T |
p.D352Y |
Missense |
6/9 |
- |
1 |
16-53913835-A-T |
c.1055A>T |
p.D352V |
Missense |
6/9 |
- |
1 |
16-53913837-G-A |
c.1057G>A |
p.D353N |
Missense |
6/9 |
- |
1 |
16-53913841-T-A |
c.1061T>A |
p.V354D |
Missense |
6/9 |
- |
1 |
16-53913842-C-T |
c.1062C>T |
p.V354= |
Synonymous |
6/9 |
- |
2 |
16-53913846-T-C |
c.1066T>C |
p.L356= |
Synonymous |
6/9 |
- |
1 |
16-53913848-G-A |
c.1068G>A |
p.L356= |
Synonymous |
6/9 |
- |
1 |
16-53913849-A-G |
c.1069A>G |
p.K357E |
Missense |
6/9 |
- |
1 |
16-53913851-A-C |
c.1071A>C |
p.K357N |
Missense |
6/9 |
- |
1 |
16-53913851-A-T |
c.1071A>T |
p.K357N |
Missense |
6/9 |
- |
1 |
16-53913853-C-T |
c.1073C>T |
p.S358F |
Missense |
6/9 |
- |
1 |
16-53913854-C-A |
c.1074C>A |
p.S358= |
Synonymous |
6/9 |
- |
1 |
16-53913854-C-G |
c.1074C>G |
p.S358= |
Synonymous |
6/9 |
- |
1 |
16-53913854-C-T |
c.1074C>T |
p.S358= |
Synonymous |
6/9 |
- |
1 |
16-53913865-C-T |
c.1085C>T |
p.A362V |
Missense |
6/9 |
- |
1 |
16-53913867-G-T |
c.1087G>T |
p.V363F |
Missense |
6/9 |
- |
1 |
16-53913874-A-G |
c.1094A>G |
p.K365R |
Missense |
6/9 |
- |
1 |
16-53913879-G-T |
c.1099G>T |
p.G367* |
Nonsense |
6/9 |
- |
1 |
16-53913884-A-G |
c.1104A>G |
p.E368= |
Synonymous |
6/9 |
- |
1 |
16-53913885-G-A |
c.1105G>A |
p.E369K |
Missense |
6/9 |
- |
1 |
16-53913891-C-T |
c.1111C>T |
p.H371Y |
Missense |
6/9 |
- |
2 |
16-53913892-A-G |
c.1112A>G |
p.H371R |
Missense |
6/9 |
- |
1 |
16-53913895-A-T |
c.1115A>T |
p.N372I |
Missense |
6/9 |
- |
1 |
16-53913911-C-T |
c.1119+12C>T |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53913911-C-CT |
c.1119+25dup |
- |
IntronicInsertion |
- |
6/8 |
1 |
16-53913930-G-A |
c.1119+31G>A |
- |
IntronicSNV |
- |
6/8 |
8 |
16-53913930-G-T |
c.1119+31G>T |
- |
IntronicSNV |
- |
6/8 |
5 |
16-53914427-C-G |
c.1119+528C>G |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53916508-A-G |
c.1119+2609A>G |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53916879-G-A |
c.1119+2980G>A |
- |
IntronicSNV |
- |
6/8 |
2 |
16-53920788-T-A |
c.1120-1956T>A |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53920788-T-G |
c.1120-1956T>G |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53921837-T-C |
c.1120-907T>C |
- |
IntronicSNV |
- |
6/8 |
1 |
16-53922494-T-A |
c.1120-250T>A |
- |
IntronicSNV |
- |
6/8 |
2 |
16-53922746-C-A |
c.1122C>A |
p.V374= |
Synonymous |
7/9 |
- |
1 |
16-53922746-C-G |
c.1122C>G |
p.V374= |
Synonymous |
7/9 |
- |
1 |
16-53922746-C-T |
c.1122C>T |
p.V374= |
Synonymous |
7/9 |
- |
1 |
16-53922747-G-A |
c.1123G>A |
p.E375K |
Missense |
7/9 |
- |
2 |
16-53922747-G-C |
c.1123G>C |
p.E375Q |
Missense |
7/9 |
- |
1 |
16-53922753-G-T |
c.1129G>T |
p.E377* |
Nonsense |
7/9 |
- |
1 |
16-53922766-A-G |
c.1142A>G |
p.Q381R |
Missense |
7/9 |
- |
1 |
16-53922768-T-G |
c.1144T>G |
p.F382V |
Missense |
7/9 |
- |
1 |
16-53922772-G-T |
c.1148G>T |
p.W383L |
Missense |
7/9 |
- |
1 |
16-53922777-C-T |
c.1153C>T |
p.Q385* |
Nonsense |
7/9 |
- |
1 |
16-53922778-A-C |
c.1154A>C |
p.Q385P |
Missense |
7/9 |
- |
1 |
16-53922784-A-T |
c.1160A>T |
p.N387I |
Missense |
7/9 |
- |
1 |
16-53922786-C-T |
c.1162C>T |
p.R388* |
Nonsense |
7/9 |
- |
1 |
16-53922787-G-A |
c.1163G>A |
p.R388Q |
Missense |
7/9 |
- |
1 |
16-53922792-AGA-CAT |
c.1168_1170delinsCAT |
p.R390H |
Missense |
7/9 |
- |
1 |
16-53922792-AGA-TGT |
c.1168_1170delinsTGT |
p.R390C |
Missense |
7/9 |
- |
1 |
16-53922795-A-C |
c.1171A>C |
p.K391Q |
Missense |
7/9 |
- |
2 |
16-53922798-T-C |
c.1174T>C |
p.C392R |
Missense |
7/9 |
- |
1 |
16-53922798-TG-GA |
c.1174_1175delinsGA |
p.C392D |
Missense |
7/9 |
- |
3 |
16-53922801-AC-TG |
c.1177_1178delinsTG |
p.T393C |
Missense |
7/9 |
- |
1 |
16-53922802-C-T |
c.1178C>T |
p.T393I |
Missense |
7/9 |
- |
2 |
16-53922804-G-A |
c.1180G>A |
p.D394N |
Missense |
7/9 |
- |
2 |
16-53922805-A-C |
c.1181A>C |
p.D394A |
Missense |
7/9 |
- |
2 |
16-53922806-C-T |
c.1182C>T |
p.D394= |
Synonymous |
7/9 |
- |
1 |
16-53922808-G-A |
c.1184G>A |
p.W395* |
Nonsense |
7/9 |
- |
1 |
16-53922817-A-T |
c.1193A>T |
p.Q398L |
Missense |
7/9 |
- |
4 |
16-53922819-C-G |
c.1195C>G |
p.P399A |
Missense |
7/9 |
- |
1 |
16-53922819-C-T |
c.1195C>T |
p.P399S |
Missense |
7/9 |
- |
1 |
16-53922820-C-A |
c.1196C>A |
p.P399H |
Missense |
7/9 |
- |
1 |
16-53922822-A-G |
c.1198A>G |
p.M400V |
Missense |
7/9 |
- |
2 |
16-53922823-T-C |
c.1199T>C |
p.M400T |
Missense |
7/9 |
- |
1 |
16-53922831-C-T |
c.1207C>T |
p.L403= |
Synonymous |
7/9 |
- |
1 |
16-53922838-C-T |
c.1214C>T |
p.A405V |
Missense |
7/9 |
- |
12 |
16-53922839-A-C |
c.1215A>C |
p.A405= |
Synonymous |
7/9 |
- |
1 |
16-53922839-A-G |
c.1215A>G |
p.A405= |
Synonymous |
7/9 |
- |
2 |
16-53922839-A-T |
c.1215A>T |
p.A405= |
Synonymous |
7/9 |
- |
1 |
16-53922844-G-T |
c.1220G>T |
p.W407L |
Missense |
7/9 |
- |
4 |
16-53922849-AAG-GAC |
c.1225_1227delinsGAC |
p.K409D |
Missense |
7/9 |
- |
1 |
16-53922849-AA-GT |
c.1225_1226delinsGT |
p.K409V |
Missense |
7/9 |
- |
1 |
16-53922849-AA-TG |
c.1225_1226delinsTG |
p.K409W |
Missense |
7/9 |
- |
1 |
16-53922850-A-G |
c.1226A>G |
p.K409R |
Missense |
7/9 |
- |
1 |
16-53922854-G-A |
c.1230G>A |
p.M410I |
Missense |
7/9 |
- |
1 |
16-53922854-G-C |
c.1230G>C |
p.M410I |
Missense |
7/9 |
- |
1 |
16-53922854-G-T |
c.1230G>T |
p.M410I |
Missense |
7/9 |
- |
2 |
16-53922858-G-C |
c.1234G>C |
p.G412R |
Missense |
7/9 |
- |
1 |
16-53922887-G-A |
c.1239+24G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53926790-A-G |
c.1239+3927A>G |
- |
IntronicSNV |
- |
7/8 |
6 |
16-53927004-C-T |
c.1239+4141C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927033-T-C |
c.1239+4170T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927323-G-A |
c.1239+4460G>A |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53927323-G-C |
c.1239+4460G>C |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53927467-T-C |
c.1239+4604T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927550-A-G |
c.1239+4687A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927557-T-C |
c.1239+4694T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927567-A-G |
c.1239+4704A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53927567-A-T |
c.1239+4704A>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53928079-G-A |
c.1239+5216G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53928079-G-C |
c.1239+5216G>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53928607-T-A |
c.1239+5744T>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53929434-A-T |
c.1239+6571A>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53929448-A-G |
c.1239+6585A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53929548-C-T |
c.1239+6685C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53930607-G-C |
c.1239+7744G>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53930890-C-A |
c.1239+8027C>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53930890-C-G |
c.1239+8027C>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53930993-A-G |
c.1239+8130A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53931440-A-G |
c.1239+8577A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53933443-A-C |
c.1239+10580A>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53933547-C-T |
c.1239+10684C>T |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53933565-G-A |
c.1239+10702G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53933568-G-A |
c.1239+10705G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53934889-C-A |
c.1239+12026C>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53935407-T-C |
c.1239+12544T>C |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53937632-T-C |
c.1239+14769T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53937632-T-G |
c.1239+14769T>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53938050-T-A |
c.1239+15187T>A |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53938050-T-C |
c.1239+15187T>C |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53939081-A-G |
c.1239+16218A>G |
- |
IntronicSNV |
- |
7/8 |
3 |
16-53939403-G-A |
c.1239+16540G>A |
- |
IntronicSNV |
- |
7/8 |
3 |
16-53939403-G-C |
c.1239+16540G>C |
- |
IntronicSNV |
- |
7/8 |
3 |
16-53939403-G-T |
c.1239+16540G>T |
- |
IntronicSNV |
- |
7/8 |
3 |
16-53940012-A-G |
c.1239+17149A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53941868-A-G |
c.1239+19005A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53942556-C-T |
c.1239+19693C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53942805-T-C |
c.1239+19942T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945238-C-A |
c.1239+22375C>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945238-C-G |
c.1239+22375C>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945313-G-A |
c.1239+22450G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945317-G-A |
c.1239+22454G>A |
- |
IntronicSNV |
- |
7/8 |
3 |
16-53945351-G-A |
c.1239+22488G>A |
- |
IntronicSNV |
- |
7/8 |
4 |
16-53945362-G-A |
c.1239+22499G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945362-G-T |
c.1239+22499G>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945364-T-C |
c.1239+22501T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945374-A-C |
c.1239+22511A>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945374-A-G |
c.1239+22511A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945374-A-T |
c.1239+22511A>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53945381-G-T |
c.1240-22516G>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53946204-A-T |
c.1240-21693A>T |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53946501-G-A |
c.1240-21396G>A |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53946698-G-A |
c.1240-21199G>A |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53948848-A-T |
c.1240-19049A>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53949560-G-A |
c.1240-18337G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53949916-A-G |
c.1240-17981A>G |
- |
IntronicSNV |
- |
7/8 |
4 |
16-53950231-G-A |
c.1240-17666G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53951661-T-C |
c.1240-16236T>C |
- |
IntronicSNV |
- |
7/8 |
2 |
16-53953119-T-G |
c.1240-14778T>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53953998-T-C |
c.1240-13899T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53954663-G-T |
c.1240-13234G>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53954956-G-A |
c.1240-12941G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53956052-C-T |
c.1240-11845C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53956383-A-C |
c.1240-11514A>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53956934-C-T |
c.1240-10963C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53958475-A-G |
c.1240-9422A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53958626-C-A |
c.1240-9271C>A |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53958626-C-T |
c.1240-9271C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53961748-T-C |
c.1240-6149T>C |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53963063-A-G |
c.1240-4834A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53963063-A-T |
c.1240-4834A>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53964826-C-T |
c.1240-3071C>T |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53966063-A-G |
c.1240-1834A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
16-53967913-A-G |
c.1256A>G |
p.H419R |
Missense |
8/9 |
- |
1 |
16-53967915-G-A |
c.1258G>A |
p.E420K |
Missense |
8/9 |
- |
1 |
16-53967927-G-A |
c.1270G>A |
p.E424K |
Missense |
8/9 |
- |
1 |
16-53967927-G-C |
c.1270G>C |
p.E424Q |
Missense |
8/9 |
- |
2 |
16-53967932-G-A |
c.1275G>A |
p.G425= |
Synonymous |
8/9 |
- |
1 |
16-53967932-G-C |
c.1275G>C |
p.G425= |
Synonymous |
8/9 |
- |
1 |
16-53967932-G-T |
c.1275G>T |
p.G425= |
Synonymous |
8/9 |
- |
1 |
16-53967933-C-T |
c.1276C>T |
p.L426F |
Missense |
8/9 |
- |
1 |
16-53967934-CT-C |
c.1277del |
p.L426Pfs*10 |
Frameshift |
8/9 |
- |
1 |
16-53967938-C-A |
c.1281C>A |
p.P427= |
Synonymous |
8/9 |
- |
1 |
16-53967938-C-G |
c.1281C>G |
p.P427= |
Synonymous |
8/9 |
- |
1 |
16-53967938-C-T |
c.1281C>T |
p.P427= |
Synonymous |
8/9 |
- |
1 |
16-53967944-A-C |
c.1287A>C |
p.E429D |
Missense |
8/9 |
- |
1 |
16-53967944-A-T |
c.1287A>T |
p.E429D |
Missense |
8/9 |
- |
1 |
16-53967949-G-C |
c.1292G>C |
p.R431T |
Missense |
8/9 |
- |
1 |
16-53967950-G-A |
c.1293G>A |
p.R431= |
Synonymous |
8/9 |
- |
1 |
16-53967952-A-G |
c.1295A>G |
p.N432S |
Missense |
8/9 |
- |
1 |
16-53967959-C-A |
c.1302C>A |
p.I434= |
Synonymous |
8/9 |
- |
1 |
16-53967959-C-T |
c.1302C>T |
p.I434= |
Synonymous |
8/9 |
- |
1 |
16-53967960-TT-AG |
c.1303_1304delinsAG |
p.L435R |
Missense |
8/9 |
- |
1 |
16-53967962-G-C |
c.1305G>C |
p.L435F |
Missense |
8/9 |
- |
1 |
16-53967962-G-T |
c.1305G>T |
p.L435F |
Missense |
8/9 |
- |
1 |
16-53967963-A-G |
c.1306A>G |
p.T436A |
Missense |
8/9 |
- |
2 |
16-53967967-C-G |
c.1310C>G |
p.A437G |
Missense |
8/9 |
- |
1 |
16-53967967-C-T |
c.1310C>T |
p.A437V |
Missense |
8/9 |
- |
1 |
16-53967970-TC-AG |
c.1313_1314delinsAG |
p.I438K |
Missense |
8/9 |
- |
1 |
16-53967972-C-A |
c.1315C>A |
p.L439I |
Missense |
8/9 |
- |
1 |
16-53967979-C-A |
c.1322C>A |
p.S441* |
Nonsense |
8/9 |
- |
1 |
16-53967979-C-T |
c.1322C>T |
p.S441L |
Missense |
8/9 |
- |
1 |
16-53967980-G-A |
c.1323G>A |
p.S441= |
Synonymous |
8/9 |
- |
1 |
16-53967980-G-C |
c.1323G>C |
p.S441= |
Synonymous |
8/9 |
- |
1 |
16-53967980-G-T |
c.1323G>T |
p.S441= |
Synonymous |
8/9 |
- |
1 |
16-53967983-C-A |
c.1326C>A |
p.L442= |
Synonymous |
8/9 |
- |
1 |
16-53967983-C-G |
c.1326C>G |
p.L442= |
Synonymous |
8/9 |
- |
1 |
16-53967983-C-T |
c.1326C>T |
p.L442= |
Synonymous |
8/9 |
- |
4 |
16-53967988-C-T |
c.1331C>T |
p.A444V |
Missense |
8/9 |
- |
1 |
16-53967990-C-T |
c.1333C>T |
p.R445C |
Missense |
8/9 |
- |
6 |
16-53967991-G-A |
c.1334G>A |
p.R445H |
Missense |
8/9 |
- |
2 |
16-53967999-C-T |
c.1342C>T |
p.L448= |
Synonymous |
8/9 |
- |
2 |
16-53968001-G-A |
c.1344G>A |
p.L448= |
Synonymous |
8/9 |
- |
3 |
16-53968001-G-C |
c.1344G>C |
p.L448= |
Synonymous |
8/9 |
- |
2 |
16-53968001-G-T |
c.1344G>T |
p.L448= |
Synonymous |
8/9 |
- |
2 |
16-53968006-G-A |
c.1349G>A |
p.R450K |
Missense |
8/9 |
- |
1 |
16-53968012-G-A |
c.1355G>A |
p.W452* |
Nonsense |
8/9 |
- |
1 |
16-53968016-T-A |
c.1359T>A |
p.H453Q |
Missense |
8/9 |
- |
1 |
16-53968016-T-G |
c.1359T>G |
p.H453Q |
Missense |
8/9 |
- |
1 |
16-53968021-G-T |
c.1364G>T |
p.R455M |
Missense |
8/9 |
- |
1 |
16-53968022-G-A |
c.1364+1G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53968145-A-G |
c.1364+124A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53969088-C-G |
c.1364+1067C>G |
- |
IntronicSNV |
- |
8/8 |
2 |
16-53969088-C-T |
c.1364+1067C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-53970457-G-A |
c.1364+2436G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53970634-T-C |
c.1364+2613T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971224-T-A |
c.1364+3203T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971259-C-A |
c.1364+3238C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971266-C-A |
c.1364+3245C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971509-T-C |
c.1364+3488T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971515-C-A |
c.1364+3494C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971521-T-A |
c.1364+3500T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971540-G-A |
c.1364+3519G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53971613-C-T |
c.1364+3592C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53973895-A-G |
c.1364+5874A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53974336-C-T |
c.1364+6315C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53976662-G-A |
c.1364+8641G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-53978734-C-G |
c.1364+10713C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53979100-G-A |
c.1364+11079G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53980674-C-A |
c.1364+12653C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53980938-C-T |
c.1364+12917C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53980987-T-C |
c.1364+12966T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53981020-G-A |
c.1364+12999G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53981208-T-C |
c.1364+13187T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53981282-T-C |
c.1364+13261T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53981296-G-C |
c.1364+13275G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53981512-T-TA |
c.1364+13494dup |
- |
IntronicInsertion |
- |
8/8 |
1 |
16-53983480-A-C |
c.1364+15459A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53983715-C-T |
c.1364+15694C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53983772-A-G |
c.1364+15751A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53983774-T-G |
c.1364+15753T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53983779-G-A |
c.1364+15758G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53983954-T-TG |
c.1364+15941dup |
- |
IntronicInsertion |
- |
8/8 |
1 |
16-53984623-T-A |
c.1364+16602T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53984623-T-C |
c.1364+16602T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53985726-GT-G |
c.1364+17716del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-53986273-T-C |
c.1364+18252T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53987121-A-G |
c.1364+19100A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988267-G-A |
c.1364+20246G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988267-G-T |
c.1364+20246G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988493-T-G |
c.1364+20472T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988511-A-C |
c.1364+20490A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988511-A-T |
c.1364+20490A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988955-C-A |
c.1364+20934C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53988955-C-G |
c.1364+20934C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53989673-A-G |
c.1364+21652A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53990523-A-G |
c.1364+22502A>G |
- |
IntronicSNV |
- |
8/8 |
8 |
16-53990953-C-T |
c.1364+22932C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-53992704-A-C |
c.1364+24683A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53992704-A-T |
c.1364+24683A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53994625-GGGGTGGGGGGGGC-G |
c.1364+26606_1364+26618del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-53994956-C-A |
c.1364+26935C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53994975-CTGCA-C |
c.1364+26954_1364+26957del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-53995011-A-G |
c.1364+26990A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53995056-CTTT-C |
c.1364+27045_1364+27047del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-53995242-A-G |
c.1364+27221A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53995584-T-A |
c.1364+27563T>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-53995641-C-A |
c.1364+27620C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53995641-C-T |
c.1364+27620C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53997302-C-T |
c.1364+29281C>T |
- |
IntronicSNV |
- |
8/8 |
3 |
16-53998371-TTTG-T |
c.1364+30356_1364+30358del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-53998687-C-G |
c.1364+30666C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53998930-C-T |
c.1364+30909C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53999007-A-C |
c.1364+30986A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-53999638-C-T |
c.1364+31617C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001248-G-A |
c.1364+33227G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001248-G-T |
c.1364+33227G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001313-A-G |
c.1364+33292A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001539-A-G |
c.1364+33518A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001540-A-C |
c.1364+33519A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001561-A-C |
c.1364+33540A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001565-A-G |
c.1364+33544A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001619-G-C |
c.1364+33598G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54001620-G-A |
c.1364+33599G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54003483-C-T |
c.1364+35462C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54003805-C-T |
c.1364+35784C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54004811-A-G |
c.1364+36790A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54005163-C-T |
c.1364+37142C>T |
- |
IntronicSNV |
- |
8/8 |
7 |
16-54005172-CT-C |
c.1364+37158del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-54005489-G-A |
c.1364+37468G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54009328-T-C |
c.1364+41307T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54009501-G-A |
c.1364+41480G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54009545-C-T |
c.1364+41524C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54012279-A-G |
c.1364+44258A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013302-G-A |
c.1364+45281G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013328-C-T |
c.1364+45307C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013346-A-G |
c.1364+45325A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013349-G-A |
c.1364+45328G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013349-G-T |
c.1364+45328G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54013480-C-T |
c.1364+45459C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54014035-T-G |
c.1364+46014T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54014267-G-C |
c.1364+46246G>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54016452-A-G |
c.1364+48431A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54016825-A-G |
c.1364+48804A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54016854-A-T |
c.1364+48833A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54017310-C-G |
c.1364+49289C>G |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54017310-C-T |
c.1364+49289C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54018847-C-A |
c.1364+50826C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018849-G-T |
c.1364+50828G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018921-G-A |
c.1364+50900G>A |
- |
IntronicSNV |
- |
8/8 |
10 |
16-54018945-C-A |
c.1364+50924C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018967-A-T |
c.1364+50946A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018969-A-T |
c.1364+50948A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018996-A-T |
c.1364+50975A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54018999-A-T |
c.1364+50978A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54019005-A-T |
c.1364+50984A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54019009-A-T |
c.1364+50988A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54019047-G-T |
c.1364+51026G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54019686-G-A |
c.1364+51665G>A |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54019749-A-G |
c.1364+51728A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54020591-A-G |
c.1364+52570A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54020787-G-C |
c.1364+52766G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54020810-T-G |
c.1364+52789T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54020830-T-C |
c.1364+52809T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54020903-T-C |
c.1364+52882T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54021009-G-A |
c.1364+52988G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54021944-T-C |
c.1364+53923T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54022537-A-C |
c.1364+54516A>C |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54022537-A-G |
c.1364+54516A>G |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54023584-C-T |
c.1364+55563C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54023917-G-A |
c.1364+55896G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54024266-G-A |
c.1364+56245G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54025172-G-A |
c.1364+57151G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54025172-G-T |
c.1364+57151G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54026681-C-T |
c.1364+58660C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54026739-A-G |
c.1364+58718A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54027493-A-G |
c.1364+59472A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54027671-C-T |
c.1364+59650C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54027811-A-G |
c.1364+59790A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54027971-T-C |
c.1364+59950T>C |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54028268-AT-A |
c.1364+60255del |
- |
IntronicDeletion |
- |
8/8 |
1 |
16-54029232-A-C |
c.1364+61211A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54030526-T-C |
c.1364+62505T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54031020-A-G |
c.1364+62999A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54032493-A-G |
c.1364+64472A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54033135-C-T |
c.1364+65114C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54033248-T-C |
c.1364+65227T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54033302-G-A |
c.1364+65281G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54033316-T-G |
c.1364+65295T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54034941-C-T |
c.1364+66920C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54034952-T-C |
c.1364+66931T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54036243-T-A |
c.1364+68222T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54036243-T-G |
c.1364+68222T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54036352-G-A |
c.1364+68331G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54036352-G-T |
c.1364+68331G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54037622-G-C |
c.1364+69601G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54037971-T-G |
c.1364+69950T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54038588-G-A |
c.1364+70567G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54038588-G-T |
c.1364+70567G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54039014-T-C |
c.1364+70993T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54039486-C-A |
c.1364+71465C>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54039486-C-T |
c.1364+71465C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54040916-A-G |
c.1364+72895A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54041253-C-G |
c.1364+73232C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54041253-C-T |
c.1364+73232C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54041755-T-A |
c.1364+73734T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54042616-C-A |
c.1364+74595C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54042616-C-G |
c.1364+74595C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54043323-C-G |
c.1364+75302C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54043323-C-T |
c.1364+75302C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54043464-T-A |
c.1364+75443T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54043464-T-G |
c.1364+75443T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54043514-G-A |
c.1364+75493G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54044515-C-T |
c.1364+76494C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54047150-C-G |
c.1364+79129C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54047150-C-T |
c.1364+79129C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54049153-T-A |
c.1364+81132T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54049153-T-C |
c.1364+81132T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54049767-G-A |
c.1364+81746G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54049767-G-C |
c.1364+81746G>C |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54051405-C-T |
c.1364+83384C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54052333-C-G |
c.1364+84312C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54052885-C-T |
c.1364+84864C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54053311-G-T |
c.1364+85290G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54053795-G-A |
c.1364+85774G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54054078-G-A |
c.1364+86057G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54054744-C-A |
c.1364+86723C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54056159-C-T |
c.1364+88138C>T |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54056429-T-G |
c.1364+88408T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54057749-A-G |
c.1365-87925A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54058292-C-T |
c.1365-87382C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54060205-G-A |
c.1365-85469G>A |
- |
IntronicSNV |
- |
8/8 |
5 |
16-54061141-T-A |
c.1365-84533T>A |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54061141-T-C |
c.1365-84533T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54061758-C-G |
c.1365-83916C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54063715-C-A |
c.1365-81959C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54063715-C-T |
c.1365-81959C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54065210-C-T |
c.1365-80464C>T |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54065346-G-A |
c.1365-80328G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54065994-T-A |
c.1365-79680T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54068121-T-C |
c.1365-77553T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54069465-A-G |
c.1365-76209A>G |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54069465-A-T |
c.1365-76209A>T |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54073527-C-T |
c.1365-72147C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54073612-C-T |
c.1365-72062C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54073776-A-G |
c.1365-71898A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54074127-A-G |
c.1365-71547A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54074627-T-C |
c.1365-71047T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54075244-C-G |
c.1365-70430C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54075244-C-T |
c.1365-70430C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54075532-G-A |
c.1365-70142G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54075685-C-T |
c.1365-69989C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54075698-A-G |
c.1365-69976A>G |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54075698-A-T |
c.1365-69976A>T |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54075839-T-G |
c.1365-69835T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54076068-C-T |
c.1365-69606C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54087859-C-A |
c.1365-57815C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54089072-T-C |
c.1365-56602T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54090589-A-G |
c.1365-55085A>G |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54093081-T-G |
c.1365-52593T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54094130-C-T |
c.1365-51544C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54095865-C-A |
c.1365-49809C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54095865-C-T |
c.1365-49809C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54097159-C-A |
c.1365-48515C>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54097159-C-T |
c.1365-48515C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54097334-G-C |
c.1365-48340G>C |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54099427-G-A |
c.1365-46247G>A |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54099469-A-C |
c.1365-46205A>C |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54100006-C-T |
c.1365-45668C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54100369-T-C |
c.1365-45305T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54100518-G-A |
c.1365-45156G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54100518-G-C |
c.1365-45156G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54100655-T-G |
c.1365-45019T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54101461-G-T |
c.1365-44213G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54102766-G-A |
c.1365-42908G>A |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54104500-G-A |
c.1365-41174G>A |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54105746-A-G |
c.1365-39928A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54105971-G-A |
c.1365-39703G>A |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54105971-G-T |
c.1365-39703G>T |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54106647-C-A |
c.1365-39027C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54106647-C-T |
c.1365-39027C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54107923-C-T |
c.1365-37751C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54107962-A-C |
c.1365-37712A>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54108833-T-A |
c.1365-36841T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54110951-C-G |
c.1365-34723C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54110951-C-T |
c.1365-34723C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54113619-C-G |
c.1365-32055C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54114529-G-C |
c.1365-31145G>C |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54114529-G-T |
c.1365-31145G>T |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54114824-G-A |
c.1365-30850G>A |
- |
IntronicSNV |
- |
8/8 |
23 |
16-54115200-G-A |
c.1365-30474G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54115285-A-G |
c.1365-30389A>G |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54115369-A-G |
c.1365-30305A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54115369-A-T |
c.1365-30305A>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54115452-T-G |
c.1365-30222T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54115829-G-A |
c.1365-29845G>A |
- |
IntronicSNV |
- |
8/8 |
9 |
16-54116076-T-A |
c.1365-29598T>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54117511-G-A |
c.1365-28163G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54118132-C-A |
c.1365-27542C>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54118435-A-C |
c.1365-27239A>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54118731-T-C |
c.1365-26943T>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54118731-T-G |
c.1365-26943T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54118863-C-T |
c.1365-26811C>T |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54119892-T-C |
c.1365-25782T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54120330-T-G |
c.1365-25344T>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54120384-C-T |
c.1365-25290C>T |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54120952-A-G |
c.1365-24722A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54122513-G-A |
c.1365-23161G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54123389-A-G |
c.1365-22285A>G |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54123389-A-T |
c.1365-22285A>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54123512-G-A |
c.1365-22162G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54123512-G-T |
c.1365-22162G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54126617-T-C |
c.1365-19057T>C |
- |
IntronicSNV |
- |
8/8 |
3 |
16-54127683-C-T |
c.1365-17991C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54127909-G-T |
c.1365-17765G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54128197-C-A |
c.1365-17477C>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54128197-C-T |
c.1365-17477C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54128426-A-G |
c.1365-17248A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54131939-G-A |
c.1365-13735G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54131939-G-T |
c.1365-13735G>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54133011-C-T |
c.1365-12663C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54133650-G-A |
c.1365-12024G>A |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54133650-G-T |
c.1365-12024G>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54133800-C-T |
c.1365-11874C>T |
- |
IntronicSNV |
- |
8/8 |
2 |
16-54137862-G-A |
c.1365-7812G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54137862-G-T |
c.1365-7812G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54137980-C-G |
c.1365-7694C>G |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54137980-C-T |
c.1365-7694C>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54138564-A-G |
c.1365-7110A>G |
- |
IntronicSNV |
- |
8/8 |
4 |
16-54138880-A-T |
c.1365-6794A>T |
- |
IntronicSNV |
- |
8/8 |
9 |
16-54139497-G-A |
c.1365-6177G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54142090-G-A |
c.1365-3584G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54142090-G-C |
c.1365-3584G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54142090-G-T |
c.1365-3584G>T |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54144344-G-A |
c.1365-1330G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
16-54145674-G-C |
c.1365G>C |
p.R455S |
Missense |
9/9 |
- |
1 |
16-54145674-G-T |
c.1365G>T |
p.R455S |
Missense |
9/9 |
- |
2 |
16-54145677-C-T |
c.1368C>T |
p.C456= |
Synonymous |
9/9 |
- |
2 |
16-54145683-A-C |
c.1374A>C |
p.S458= |
Synonymous |
9/9 |
- |
1 |
16-54145683-A-G |
c.1374A>G |
p.S458= |
Synonymous |
9/9 |
- |
2 |
16-54145683-A-T |
c.1374A>T |
p.S458= |
Synonymous |
9/9 |
- |
1 |
16-54145684-C-A |
c.1375C>A |
p.R459= |
Synonymous |
9/9 |
- |
1 |
16-54145686-A-C |
c.1377A>C |
p.R459= |
Synonymous |
9/9 |
- |
1 |
16-54145686-A-G |
c.1377A>G |
p.R459= |
Synonymous |
9/9 |
- |
1 |
16-54145686-A-T |
c.1377A>T |
p.R459= |
Synonymous |
9/9 |
- |
1 |
16-54145685-G-A |
c.1376G>A |
p.R459Q |
Missense |
9/9 |
- |
4 |
16-54145685-G-T |
c.1376G>T |
p.R459L |
Missense |
9/9 |
- |
1 |
16-54145693-C-T |
c.1384C>T |
p.R462* |
Nonsense |
9/9 |
- |
2 |
16-54145699-T-C |
c.1390T>C |
p.L464= |
Synonymous |
9/9 |
- |
1 |
16-54145701-A-G |
c.1392A>G |
p.L464= |
Synonymous |
9/9 |
- |
1 |
16-54145700-T-A |
c.1391T>A |
p.L464* |
Nonsense |
9/9 |
- |
1 |
16-54145700-T-C |
c.1391T>C |
p.L464S |
Missense |
9/9 |
- |
3 |
16-54145700-T-G |
c.1391T>G |
p.L464* |
Nonsense |
9/9 |
- |
1 |
16-54145702-C-T |
c.1393C>T |
p.P465S |
Missense |
9/9 |
- |
2 |
16-54145703-C-A |
c.1394C>A |
p.P465H |
Missense |
9/9 |
- |
1 |
16-54145703-C-T |
c.1394C>T |
p.P465L |
Missense |
9/9 |
- |
1 |
16-54145708-G-T |
c.1399G>T |
p.D467Y |
Missense |
9/9 |
- |
1 |
16-54145710-T-C |
c.1401T>C |
p.D467= |
Synonymous |
9/9 |
- |
2 |
16-54145711-C-A |
c.1402C>A |
p.Q468K |
Missense |
9/9 |
- |
1 |
16-54145717-C-G |
c.1408C>G |
p.P470A |
Missense |
9/9 |
- |
1 |
16-54145721-A-G |
c.1412A>G |
p.E471G |
Missense |
9/9 |
- |
1 |
16-54145724-G-A |
c.1415G>A |
p.C472Y |
Missense |
9/9 |
- |
4 |
16-54145726-C-G |
c.1417C>G |
p.R473G |
Missense |
9/9 |
- |
1 |
16-54145726-C-T |
c.1417C>T |
p.R473W |
Missense |
9/9 |
- |
4 |
16-54145727-G-A |
c.1418G>A |
p.R473Q |
Missense |
9/9 |
- |
1 |
16-54145741-A-C |
c.1432A>C |
p.K478Q |
Missense |
9/9 |
- |
1 |
16-54145741-A-G |
c.1432A>G |
p.K478E |
Missense |
9/9 |
- |
1 |
16-54145743-G-A |
c.1434G>A |
p.K478= |
Synonymous |
9/9 |
- |
1 |
16-54145743-G-C |
c.1434G>C |
p.K478N |
Missense |
9/9 |
- |
1 |
16-54145747-G-A |
c.1438G>A |
p.D480N |
Missense |
9/9 |
- |
2 |
16-54145754-C-A |
c.1445C>A |
p.S482* |
Nonsense |
9/9 |
- |
1 |
16-54145754-C-T |
c.1445C>T |
p.S482L |
Missense |
9/9 |
- |
8 |
16-54145759-C-T |
c.1450C>T |
p.P484S |
Missense |
9/9 |
- |
1 |
16-54145766-C-T |
c.1457C>T |
p.P486L |
Missense |
9/9 |
- |
1 |
16-54145771-G-A |
c.1462G>A |
p.D488N |
Missense |
9/9 |
- |
2 |
16-54145772-A-G |
c.1463A>G |
p.D488G |
Missense |
9/9 |
- |
2 |
16-54145774-C-T |
c.1465C>T |
p.L489F |
Missense |
9/9 |
- |
1 |
16-54145783-A-G |
c.1474A>G |
p.I492V |
Missense |
9/9 |
- |
4 |
16-54145785-C-A |
c.1476C>A |
p.I492= |
Synonymous |
9/9 |
- |
3 |
16-54145785-C-T |
c.1476C>T |
p.I492= |
Synonymous |
9/9 |
- |
5 |
16-54145786-G-A |
c.1477G>A |
p.V493I |
Missense |
9/9 |
- |
3 |
16-54145786-G-T |
c.1477G>T |
p.V493F |
Missense |
9/9 |
- |
2 |
16-54145789-T-C |
c.1480T>C |
p.S494P |
Missense |
9/9 |
- |
3 |
16-54145794-A-G |
c.1485A>G |
p.E495= |
Synonymous |
9/9 |
- |
1 |
16-54145796-T-A |
c.1487T>A |
p.L496H |
Missense |
9/9 |
- |
1 |
16-54145797-C-A |
c.1488C>A |
p.L496= |
Synonymous |
9/9 |
- |
1 |
16-54145797-C-CT |
c.1488_1489insT |
p.R497* |
Nonsense |
9/9 |
- |
1 |
16-54145797-C-G |
c.1488C>G |
p.L496= |
Synonymous |
9/9 |
- |
1 |
16-54145797-C-T |
c.1488C>T |
p.L496= |
Synonymous |
9/9 |
- |
1 |
16-54145797-TCAG-T |
c.1488_1490del |
p.R497del |
InFrameDeletion |
9/9 |
- |
2 |
16-54145798-CA-C |
c.1489del |
p.R497Efs*56 |
Frameshift |
9/9 |
- |
1 |
16-54145797-CAG-C |
c.1491_1492del |
p.G498Sfs*32 |
Frameshift |
9/9 |
- |
2 |
16-54145804-C-T |
c.1495C>T |
p.Q499* |
Nonsense |
9/9 |
- |
1 |
16-54145810-C-T |
c.1501C>T |
p.L501= |
Synonymous |
9/9 |
- |
1 |
16-54145812-G-A |
c.1503G>A |
p.L501= |
Synonymous |
9/9 |
- |
1 |
16-54145812-G-C |
c.1503G>C |
p.L501= |
Synonymous |
9/9 |
- |
1 |
16-54145812-G-T |
c.1503G>T |
p.L501= |
Synonymous |
9/9 |
- |
1 |
16-54145813-G-A |
c.1504G>A |
p.E502K |
Missense |
9/9 |
- |
2 |
16-54145813-GA-G |
c.1506del |
p.A503Qfs*50 |
Frameshift |
9/9 |
- |
1 |
16-54145817-C-T |
c.1508C>T |
p.A503V |
Missense |
9/9 |
- |
1 |
16-54145822-C-A |
c.1513C>A |
p.P505T |
Missense |
9/9 |
- |
1 |
16-54145824-C-G |
c.1515C>G |
p.P505= |
Synonymous |
9/9 |
- |
1 |
16-54145847-C-T |
c.*20C>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145848-G-A |
c.*21G>A |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145859-A-G |
c.*32A>G |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145859-A-T |
c.*32A>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145883-G-A |
c.*56G>A |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145883-G-T |
c.*56G>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145905-G-C |
c.*78G>C |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54145943-C-T |
c.*116C>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54147207-G-A |
c.*1380G>A |
- |
3-UTRSNV |
9/9 |
- |
2 |
16-54147207-G-C |
c.*1380G>C |
- |
3-UTRSNV |
9/9 |
- |
2 |
16-54147207-G-T |
c.*1380G>T |
- |
3-UTRSNV |
9/9 |
- |
2 |
16-54147230-C-T |
c.*1403C>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54147412-G-A |
c.*1585G>A |
- |
3-UTRSNV |
9/9 |
- |
1 |
16-54147935-G-A |
c.*2108G>A |
- |
3-UTRSNV |
9/9 |
- |
9 |
16-54148468-C-T |
c.*2641C>T |
- |
IntergenicSNV |
9/9 |
- |
2 |
16-54148603-G-A |
c.*2776G>A |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54148628-C-G |
c.*2801C>G |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54148628-C-T |
c.*2801C>T |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54149044-C-G |
c.*3217C>G |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54149044-C-T |
c.*3217C>T |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54149532-G-A |
c.*3705G>A |
- |
IntergenicSNV |
9/9 |
- |
5 |
16-54150035-C-A |
c.*4208C>A |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54150978-A-G |
c.*5151A>G |
- |
IntergenicSNV |
9/9 |
- |
3 |
16-54152048-A-T |
c.*6221A>T |
- |
IntergenicSNV |
9/9 |
- |
11 |
16-54152620-G-C |
c.*6793G>C |
- |
IntergenicSNV |
9/9 |
- |
2 |
16-54152644-G-A |
c.*6817G>A |
- |
IntergenicSNV |
9/9 |
- |
1 |
16-54152730-A-G |
c.*6903A>G |
- |
IntergenicSNV |
9/9 |
- |
2 |
16-54153099-A-T |
c.*7272A>T |
- |
IntergenicSNV |
9/9 |
- |
2 |
16-54155742-T-C |
c.*9915T>C |
- |
IntergenicSNV |
9/9 |
- |
2 |