FTO

FTO FTO alpha-ketoglutarate dependent dioxygenase

Annotation transcript: NM_001080432.3

1459 unique variant annotations were identified in 2411 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
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