FTO FTO alpha-ketoglutarate dependent dioxygenase

Canonical transcript: NM_001080432

564 unique variant annotations were identified in 864 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
16-53738283-A-G c.45+142A>G - IntronicSNV - 1/8 1
16-53738283-A-T c.45+142A>T - IntronicSNV - 1/8 1
16-53739773-A-C c.45+1632A>C - IntronicSNV - 1/8 1
16-53739773-A-T c.45+1632A>T - IntronicSNV - 1/8 1
16-53747858-A-G c.45+9717A>G - IntronicSNV - 1/8 1
16-53748969-T-G c.45+10828T>G - IntronicSNV - 1/8 2
16-53750137-G-A c.45+11996G>A - IntronicSNV - 1/8 1
16-53755146-A-G c.45+17005A>G - IntronicSNV - 1/8 3
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
16-53757740-A-C c.45+19599A>C - IntronicSNV - 1/8 2
16-53757740-A-G c.45+19599A>G - IntronicSNV - 1/8 2
16-53767796-A-G c.45+29655A>G - IntronicSNV - 1/8 1
16-53769293-G-A c.45+31152G>A - IntronicSNV - 1/8 5
16-53769677-G-A c.45+31536G>A - IntronicSNV - 1/8 43
16-53770578-A-T c.45+32437A>T - IntronicSNV - 1/8 1
16-53770749-C-A c.45+32608C>A - 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
16-53779869-T-TC c.45+41728_45+41729insC - IntronicInsertion - 1/8 1
16-53780102-C-T c.45+41961C>T - IntronicSNV - 1/8 2
16-53786446-T-C c.45+48305T>C - IntronicSNV - 1/8 1
16-53788658-A-G c.45+50517A>G - IntronicSNV - 1/8 1
16-53789508-T-A c.45+51367T>A - IntronicSNV - 1/8 5
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 3
16-53790181-C-A c.45+52040C>A - IntronicSNV - 1/8 11
16-53790181-C-G c.45+52040C>G - IntronicSNV - 1/8 11
16-53790402-C-T c.45+52261C>T - IntronicSNV - 1/8 18
16-53790762-C-T c.45+52621C>T - IntronicSNV - 1/8 3
16-53790906-G-A c.45+52765G>A - IntronicSNV - 1/8 6
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 6
16-53793204-A-G c.46-50848A>G - 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 4
16-53795636-A-T c.46-48416A>T - IntronicSNV - 1/8 4
16-53797057-G-A c.46-46995G>A - IntronicSNV - 1/8 4
16-53797183-C-A c.46-46869C>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 3
16-53797565-A-C c.46-46487A>C - IntronicSNV - 1/8 7
16-53797565-A-G c.46-46487A>G - IntronicSNV - 1/8 7
16-53797908-C-G c.46-46144C>G - IntronicSNV - 1/8 21
16-53798523-G-A c.46-45529G>A - IntronicSNV - 1/8 18
16-53799279-G-T c.46-44773G>T - IntronicSNV - 1/8 1
16-53799296-C-T c.46-44756C>T - IntronicSNV - 1/8 2
16-53799303-C-T c.46-44749C>T - IntronicSNV - 1/8 2
16-53799507-G-A c.46-44545G>A - IntronicSNV - 1/8 6
16-53799847-G-A c.46-44205G>A - IntronicSNV - 1/8 2
16-53799905-A-G c.46-44147A>G - IntronicSNV - 1/8 5
16-53799977-T-C c.46-44075T>C - IntronicSNV - 1/8 19
16-53799977-T-G c.46-44075T>G - IntronicSNV - 1/8 19
16-53799985-T-A c.46-44067T>A - IntronicSNV - 1/8 2
16-53799985-T-C c.46-44067T>C - IntronicSNV - 1/8 2
16-53800200-C-T c.46-43852C>T - 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 38
16-53800629-C-G c.46-43423C>G - IntronicSNV - 1/8 7
16-53800754-G-A c.46-43298G>A - IntronicSNV - 1/8 32
16-53800954-T-C c.46-43098T>C - IntronicSNV - 1/8 299
16-53801343-C-A c.46-42709C>A - IntronicSNV - 1/8 3
16-53801343-C-T c.46-42709C>T - IntronicSNV - 1/8 3
16-53801549-C-T c.46-42503C>T - IntronicSNV - 1/8 1
16-53801985-C-T c.46-42067C>T - IntronicSNV - 1/8 2
16-53802494-C-T c.46-41558C>T - IntronicSNV - 1/8 13
16-53803038-A-G c.46-41014A>G - IntronicSNV - 1/8 3
16-53803156-G-A c.46-40896G>A - IntronicSNV - 1/8 3
16-53803187-A-T c.46-40865A>T - IntronicSNV - 1/8 2
16-53803223-G-A c.46-40829G>A - IntronicSNV - 1/8 11
16-53803574-T-A c.46-40478T>A - IntronicSNV - 1/8 201
16-53804340-C-T c.46-39712C>T - IntronicSNV - 1/8 4
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 3
16-53805344-C-G c.46-38708C>G - IntronicSNV - 1/8 5
16-53806145-T-C c.46-37907T>C - IntronicSNV - 1/8 2
16-53806280-C-G c.46-37772C>G - IntronicSNV - 1/8 9
16-53806453-A-G c.46-37599A>G - IntronicSNV - 1/8 3
16-53806453-A-T c.46-37599A>T - IntronicSNV - 1/8 3
16-53807498-C-G c.46-36554C>G - IntronicSNV - 1/8 6
16-53807764-A-C c.46-36288A>C - IntronicSNV - 1/8 14
16-53807764-A-G c.46-36288A>G - IntronicSNV - 1/8 14
16-53807924-G-A c.46-36128G>A - IntronicSNV - 1/8 1
16-53808258-A-G c.46-35794A>G - IntronicSNV - 1/8 23
16-53808984-C-A c.46-35068C>A - IntronicSNV - 1/8 1
16-53809123-C-T c.46-34929C>T - IntronicSNV - 1/8 14
16-53809247-G-A c.46-34805G>A - IntronicSNV - 1/8 152
16-53809247-G-C c.46-34805G>C - IntronicSNV - 1/8 151
16-53810014-A-G c.46-34038A>G - IntronicSNV - 1/8 2
16-53810546-C-A c.46-33506C>A - IntronicSNV - 1/8 1
16-53810686-T-C c.46-33366T>C - IntronicSNV - 1/8 40
16-53811788-A-G c.46-32264A>G - IntronicSNV - 1/8 7
16-53812433-T-C c.46-31619T>C - IntronicSNV - 1/8 2
16-53812524-A-G c.46-31528A>G - IntronicSNV - 1/8 16
16-53812614-G-A c.46-31438G>A - IntronicSNV - 1/8 16
16-53813367-T-A c.46-30685T>A - IntronicSNV - 1/8 164
16-53813367-T-G c.46-30685T>G - IntronicSNV - 1/8 164
16-53813450-A-T c.46-30602A>T - IntronicSNV - 1/8 12
16-53813498-C-T c.46-30554C>T - IntronicSNV - 1/8 6
16-53814363-G-T c.46-29689G>T - IntronicSNV - 1/8 1
16-53815161-T-A c.46-28891T>A - IntronicSNV - 1/8 5
16-53815161-T-G c.46-28891T>G - IntronicSNV - 1/8 5
16-53815435-T-C c.46-28617T>C - IntronicSNV - 1/8 2
16-53815865-G-A c.46-28187G>A - IntronicSNV - 1/8 2
16-53816275-C-A c.46-27777C>A - IntronicSNV - 1/8 425
16-53816647-G-C c.46-27405G>C - IntronicSNV - 1/8 2
16-53816752-A-G c.46-27300A>G - IntronicSNV - 1/8 3
16-53816784-T-A c.46-27268T>A - IntronicSNV - 1/8 1
16-53816838-G-A c.46-27214G>A - IntronicSNV - 1/8 21
16-53817318-G-A c.46-26734G>A - IntronicSNV - 1/8 1
16-53817519-A-C c.46-26533A>C - IntronicSNV - 1/8 1
16-53817519-A-T c.46-26533A>T - IntronicSNV - 1/8 1
16-53818460-G-T c.46-25592G>T - IntronicSNV - 1/8 126
16-53818708-G-T c.46-25344G>T - IntronicSNV - 1/8 8
16-53818724-G-A c.46-25328G>A - IntronicSNV - 1/8 2
16-53819169-T-C c.46-24883T>C - IntronicSNV - 1/8 23
16-53819198-G-A c.46-24854G>A - IntronicSNV - 1/8 7
16-53819198-G-C c.46-24854G>C - IntronicSNV - 1/8 7
16-53819771-G-A c.46-24281G>A - IntronicSNV - 1/8 1
16-53819877-C-A c.46-24175C>A - IntronicSNV - 1/8 7
16-53819877-C-T c.46-24175C>T - IntronicSNV - 1/8 7
16-53819893-A-G c.46-24159A>G - IntronicSNV - 1/8 10
16-53820066-T-C c.46-23986T>C - IntronicSNV - 1/8 1
16-53820503-G-A c.46-23549G>A - IntronicSNV - 1/8 15
16-53820512-G-A c.46-23540G>A - IntronicSNV - 1/8 2
16-53820527-T-A c.46-23525T>A - IntronicSNV - 1/8 917
16-53820813-A-G c.46-23239A>G - IntronicSNV - 1/8 1
16-53820996-C-A c.46-23056C>A - IntronicSNV - 1/8 1
16-53820996-C-G c.46-23056C>G - IntronicSNV - 1/8 1
16-53821307-C-T c.46-22745C>T - IntronicSNV - 1/8 4
16-53821413-T-C c.46-22639T>C - IntronicSNV - 1/8 1
16-53821615-A-G c.46-22437A>G - IntronicSNV - 1/8 28
16-53821690-A-G c.46-22362A>G - IntronicSNV - 1/8 2
16-53821862-C-T c.46-22190C>T - IntronicSNV - 1/8 5
16-53822651-A-G c.46-21401A>G - IntronicSNV - 1/8 18
16-53822651-A-T c.46-21401A>T - IntronicSNV - 1/8 18
16-53824226-A-G c.46-19826A>G - IntronicSNV - 1/8 2
16-53825238-A-G c.46-18814A>G - IntronicSNV - 1/8 3
16-53825488-C-T c.46-18564C>T - IntronicSNV - 1/8 44
16-53825905-G-A c.46-18147G>A - IntronicSNV - 1/8 6
16-53825905-G-T c.46-18147G>T - IntronicSNV - 1/8 6
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 1
16-53826028-T-C c.46-18024T>C - IntronicSNV - 1/8 1
16-53826034-T-C c.46-18018T>C - IntronicSNV - 1/8 1
16-53826120-A-G c.46-17932A>G - IntronicSNV - 1/8 4
16-53827179-C-G c.46-16873C>G - IntronicSNV - 1/8 10
16-53827962-A-G c.46-16090A>G - IntronicSNV - 1/8 5
16-53828066-C-T c.46-15986C>T - IntronicSNV - 1/8 18
16-53828752-A-G c.46-15300A>G - IntronicSNV - 1/8 19
16-53829192-C-T c.46-14860C>T - IntronicSNV - 1/8 1
16-53830055-C-G c.46-13997C>G - IntronicSNV - 1/8 1
16-53830452-A-G c.46-13600A>G - IntronicSNV - 1/8 8
16-53830465-A-G c.46-13587A>G - IntronicSNV - 1/8 131
16-53830491-T-C c.46-13561T>C - IntronicSNV - 1/8 8
16-53830590-C-T c.46-13462C>T - IntronicSNV - 1/8 1
16-53830867-T-A c.46-13185T>A - IntronicSNV - 1/8 2
16-53830867-T-C c.46-13185T>C - IntronicSNV - 1/8 2
16-53830877-C-G c.46-13175C>G - IntronicSNV - 1/8 1
16-53831146-C-T c.46-12906C>T - IntronicSNV - 1/8 12
16-53831771-G-T c.46-12281G>T - IntronicSNV - 1/8 8
16-53832816-T-C c.46-11236T>C - IntronicSNV - 1/8 1
16-53833605-T-C c.46-10447T>C - IntronicSNV - 1/8 11
16-53834607-T-C c.46-9445T>C - IntronicSNV - 1/8 2
16-53834608-G-A c.46-9444G>A - IntronicSNV - 1/8 1
16-53839135-T-A c.46-4917T>A - IntronicSNV - 1/8 39
16-53839135-T-C c.46-4917T>C - IntronicSNV - 1/8 39
16-53839135-T-G c.46-4917T>G - IntronicSNV - 1/8 39
16-53842908-G-A c.46-1144G>A - IntronicSNV - 1/8 24
16-53843533-T-C c.46-519T>C - IntronicSNV - 1/8 5
16-53844076-G-A c.70G>A p.Glu24Lys Missense 2/9 - 1
16-53844088-C-G c.82C>G p.Leu28Val Missense 2/9 - 1
16-53844105-C-T c.99C>T p.Pro33Pro Synonymous 2/9 - 2
16-53844579-G-A c.123+450G>A - IntronicSNV - 2/8 4
16-53844579-G-C c.123+450G>C - IntronicSNV - 2/8 4
16-53845169-T-G c.123+1040T>G - IntronicSNV - 2/8 1
16-53845487-C-A c.123+1358C>A - IntronicSNV - 2/8 25
16-53845487-C-G c.123+1358C>G - IntronicSNV - 2/8 25
16-53846926-G-A c.123+2797G>A - IntronicSNV - 2/8 2
16-53848561-A-G c.123+4432A>G - IntronicSNV - 2/8 5
16-53850079-G-A c.123+5950G>A - IntronicSNV - 2/8 5
16-53850170-A-G c.123+6041A>G - IntronicSNV - 2/8 9
16-53850868-T-C c.123+6739T>C - IntronicSNV - 2/8 2
16-53851304-G-A c.123+7175G>A - IntronicSNV - 2/8 3
16-53854498-A-G c.124-5278A>G - IntronicSNV - 2/8 1
16-53855291-A-T c.124-4485A>T - IntronicSNV - 2/8 30
16-53855600-A-G c.124-4176A>G - IntronicSNV - 2/8 2
16-53858024-C-A c.124-1752C>A - IntronicSNV - 2/8 2
16-53858024-C-T c.124-1752C>T - IntronicSNV - 2/8 2
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 2
16-53859158-A-G c.124-618A>G - IntronicSNV - 2/8 2
16-53859518-A-C c.124-258A>C - IntronicSNV - 2/8 1
16-53859518-A-G c.124-258A>G - IntronicSNV - 2/8 1
16-53859782-C-G c.130C>G p.Leu44Val Missense 3/9 - 2
16-53859782-C-T c.130C>T p.Leu44Leu Synonymous 3/9 - 1
16-53859784-G-A c.132G>A p.Leu44Leu Synonymous 3/9 - 1
16-53859784-G-C c.132G>C p.Leu44Leu Synonymous 3/9 - 1
16-53859784-G-T c.132G>T p.Leu44Leu Synonymous 3/9 - 1
16-53859785-A-G c.133A>G p.Lys45Glu Missense 3/9 - 1
16-53859812-G-A c.160G>A p.Ala54Thr Missense 3/9 - 7
16-53859844-G-A c.192G>A p.Glu64Glu Synonymous 3/9 - 1
16-53859890-C-T c.238C>T p.Arg80Trp Missense 3/9 - 1
16-53859891-G-C c.239G>C p.Arg80Pro Missense 3/9 - 1
16-53859899-G-C c.247G>C p.Val83Leu Missense 3/9 - 1
16-53859908-C-A c.256C>A p.Gln86Lys Missense 3/9 - 2
16-53859908-CA-GC c.256_257delinsGC p.Gln86Ala Missense 3/9 - 1
16-53859909-A-T c.257A>T p.Gln86Leu Missense 3/9 - 1
16-53859924-T-C c.272T>C p.Leu91Pro Missense 3/9 - 1
16-53859930-C-G c.278C>G p.Pro93Arg Missense 3/9 - 1
16-53859931-G-A c.279G>A p.Pro93Pro Synonymous 3/9 - 1
16-53859931-G-C c.279G>C p.Pro93Pro Synonymous 3/9 - 1
16-53859931-G-T c.279G>T p.Pro93Pro Synonymous 3/9 - 1
16-53859932-G-A c.280G>A p.Val94Ile Missense 3/9 - 1
16-53859938-CGC-ATG c.286_288delinsATG p.Arg96Met Missense 3/9 - 1
16-53859938-CGC-TGG c.286_288delinsTGG p.Arg96Trp Missense 3/9 - 1
16-53859938-CG-GC c.286_287delinsGC p.Arg96Ala Missense 3/9 - 1
16-53859939-G-A c.287G>A p.Arg96His Missense 3/9 - 3
16-53859939-GC-AA c.287_288delinsAA p.Arg96Gln Missense 3/9 - 4
16-53859969-A-T c.317A>T p.Tyr106Phe Missense 3/9 - 1
16-53859974-TA-GC c.322_323delinsGC p.Tyr108Ala Missense 3/9 - 1
16-53859975-A-T c.323A>T p.Tyr108Phe Missense 3/9 - 1
16-53860013-A-C c.361A>C p.Lys121Gln Missense 3/9 - 12
16-53860037-G-A c.385G>A p.Glu129Lys Missense 3/9 - 1
16-53860049-GC-CA c.397_398delinsCA p.Ala133His Missense 3/9 - 2
16-53860052-G-A c.400G>A p.Ala134Thr Missense 3/9 - 5
16-53860080-A-G c.428A>G p.Asn143Ser Missense 3/9 - 2
16-53860082-G-A c.430G>A p.Asp144Asn Missense 3/9 - 1
16-53860088-C-A c.436C>A p.Leu146Met Missense 3/9 - 2
16-53860095-T-G c.443T>G p.Ile148Arg Missense 3/9 - 2
16-53860096-A-G c.444A>G p.Ile148Met Missense 3/9 - 2
16-53860139-G-A c.487G>A p.Ala163Thr Missense 3/9 - 6
16-53860174-A-C c.522A>C p.Ala174Ala Synonymous 3/9 - 1
16-53860174-A-G c.522A>G p.Ala174Ala Synonymous 3/9 - 1
16-53860174-A-T c.522A>T p.Ala174Ala Synonymous 3/9 - 1
16-53860197-G-C c.545G>C p.Gly182Ala Missense 3/9 - 1
16-53860206-A-G c.554A>G p.Tyr185Cys Missense 3/9 - 1
16-53860212-G-C c.560G>C p.Gly187Ala Missense 3/9 - 1
16-53860217-G-A c.565G>A p.Asp189Asn Missense 3/9 - 1
16-53860225-G-A c.573G>A p.Val191Val Synonymous 3/9 - 1
16-53860225-G-C c.573G>C p.Val191Val Synonymous 3/9 - 1
16-53860225-G-T c.573G>T p.Val191Val Synonymous 3/9 - 1
16-53860247-TAC-GAG c.595_597delinsGAG p.Tyr199Glu Missense 3/9 - 1
16-53860253-G-A c.601G>A p.Val201Ile Missense 3/9 - 2
16-53860299-A-G c.647A>G p.Lys216Arg Missense 3/9 - 1
16-53860303-G-A c.651G>A p.Glu217Glu Synonymous 3/9 - 1
16-53860305-A-C c.653A>C p.Glu218Ala Missense 3/9 - 1
16-53860319-A-G c.667A>G p.Met223Val Missense 3/9 - 2
16-53860332-C-G c.680C>G p.Ala227Gly Missense 3/9 - 1
16-53860337-AG-GC c.685_686delinsGC p.Ser229Ala Missense 3/9 - 1
16-53860343-CA-GC c.691_692delinsGC p.His231Ala Missense 3/9 - 13
16-53860350-A-C c.698A>C p.Asp233Ala Missense 3/9 - 10
16-53860352-GA-CC c.700_701delinsCC p.Glu234Pro Missense 3/9 - 2
16-53860353-A-C c.701A>C p.Glu234Ala Missense 3/9 - 1
16-53860354-A-C c.702A>C p.Glu234Asp Missense 3/9 - 2
16-53860354-A-T c.702A>T p.Glu234Asp Missense 3/9 - 2
16-53860373-G-A c.721G>A p.Ala241Thr Missense 3/9 - 2
16-53860481-G-A c.751+78G>A - IntronicSNV - 3/8 1
16-53861024-A-G c.751+621A>G - IntronicSNV - 3/8 2
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 1
16-53865975-C-T c.751+5572C>T - IntronicSNV - 3/8 1
16-53867459-C-T c.751+7056C>T - IntronicSNV - 3/8 4
16-53871806-T-G c.752-6261T>G - IntronicSNV - 3/8 12
16-53871903-A-C c.752-6164A>C - IntronicSNV - 3/8 4
16-53873428-G-A c.752-4639G>A - IntronicSNV - 3/8 2
16-53874580-C-T c.752-3487C>T - IntronicSNV - 3/8 1
16-53874657-C-T c.752-3410C>T - IntronicSNV - 3/8 1
16-53875016-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 6
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
16-53877592-T-C c.752-475T>C - IntronicSNV - 3/8 2
16-53878081-AG-GA c.766_767delinsGA p.Ser256Asp Missense 4/9 - 1
16-53878082-G-A c.767G>A p.Ser256Asn Missense 4/9 - 2
16-53878081-A-C c.766A>C p.Ser256Arg Missense 4/9 - 1
16-53878083-T-A c.768T>A p.Ser256Arg Missense 4/9 - 1
16-53878083-T-G c.768T>G p.Ser256Arg Missense 4/9 - 1
16-53878127-A-C c.812A>C p.His271Pro Missense 4/9 - 1
16-53878184-A-G c.869A>G p.His290Arg Missense 4/9 - 1
16-53878186-C-T c.871C>T p.Gln291* Nonsense 4/9 - 1
16-53878433-A-G c.895+223A>G - 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
16-53886224-A-G c.895+8014A>G - IntronicSNV - 4/8 1
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
16-53898024-G-A c.896-9674G>A - 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
16-53907498-G-A c.896-200G>A - IntronicSNV - 4/8 1
16-53907498-G-T c.896-200G>T - IntronicSNV - 4/8 1
16-53907698-A-G c.896A>G p.Asp299Gly Missense 5/9 - 1
16-53907718-C-A c.916C>A p.Gln306Lys Missense 5/9 - 1
16-53907721-CA-GC c.919_920delinsGC p.His307Ala Missense 5/9 - 1
16-53907748-CG-GC c.946_947delinsGC p.Arg316Ala Missense 5/9 - 2
16-53907749-G-A c.947G>A p.Arg316Gln Missense 5/9 - 35
16-53907758-C-T c.956C>T p.Ser319Phe Missense 5/9 - 2
16-53907766-C-T c.964C>T p.Arg322* Nonsense 5/9 - 1
16-53907767-G-A c.965G>A p.Arg322Gln Missense 5/9 - 3
16-53908657-T-C c.975+880T>C - IntronicSNV - 5/8 1
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
16-53913782-T-A c.1002T>A p.Ile334Ile Synonymous 6/9 - 2
16-53913782-T-C c.1002T>C p.Ile334Ile Synonymous 6/9 - 2
16-53913788-A-G c.1008A>G p.Gln336Gln Synonymous 6/9 - 1
16-53913822-G-A c.1042G>A p.Asp348Asn Missense 6/9 - 1
16-53913930-G-A c.1119+31G>A - IntronicSNV - 6/8 1
16-53913930-G-T c.1119+31G>T - IntronicSNV - 6/8 1
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 1
16-53921837-T-C c.1120-907T>C - IntronicSNV - 6/8 1
16-53922746-C-A c.1122C>A p.Val374Val Synonymous 7/9 - 1
16-53922746-C-G c.1122C>G p.Val374Val Synonymous 7/9 - 1
16-53922746-C-T c.1122C>T p.Val374Val Synonymous 7/9 - 1
16-53922801-AC-TG c.1177_1178delinsTG p.Thr393Cys Missense 7/9 - 1
16-53922806-C-T c.1182C>T p.Asp394Asp Synonymous 7/9 - 1
16-53922820-C-A c.1196C>A p.Pro399His Missense 7/9 - 1
16-53922822-A-G c.1198A>G p.Met400Val Missense 7/9 - 1
16-53922831-C-T c.1207C>T p.Leu403Leu Synonymous 7/9 - 1
16-53922838-C-T c.1214C>T p.Ala405Val Missense 7/9 - 7
16-53926790-A-G c.1239+3927A>G - IntronicSNV - 7/8 6
16-53927323-G-A c.1239+4460G>A - IntronicSNV - 7/8 2
16-53927323-G-C c.1239+4460G>C - IntronicSNV - 7/8 2
16-53928079-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
16-53930607-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
16-53931440-A-G c.1239+8577A>G - IntronicSNV - 7/8 1
16-53933547-C-T c.1239+10684C>T - 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
16-53939081-A-G c.1239+16218A>G - IntronicSNV - 7/8 3
16-53939403-G-A c.1239+16540G>A - IntronicSNV - 7/8 2
16-53939403-G-C c.1239+16540G>C - IntronicSNV - 7/8 2
16-53939403-G-T c.1239+16540G>T - IntronicSNV - 7/8 2
16-53941868-A-G c.1239+19005A>G - IntronicSNV - 7/8 1
16-53942805-T-C c.1239+19942T>C - IntronicSNV - 7/8 1
16-53945317-G-A c.1239+22454G>A - IntronicSNV - 7/8 1
16-53945351-G-A c.1239+22488G>A - IntronicSNV - 7/8 2
16-53946204-A-T c.1240-21693A>T - IntronicSNV - 7/8 2
16-53946501-G-A c.1240-21396G>A - IntronicSNV - 7/8 1
16-53946698-G-A c.1240-21199G>A - IntronicSNV - 7/8 2
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
16-53953998-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
16-53958475-A-G c.1240-9422A>G - 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.His419Arg Missense 8/9 - 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
16-53973895-A-G c.1364+5874A>G - IntronicSNV - 8/8 1
16-53976662-G-A c.1364+8641G>A - IntronicSNV - 8/8 1
16-53980674-C-A c.1364+12653C>A - IntronicSNV - 8/8 1
16-53983480-A-C c.1364+15459A>C - 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
16-53990523-A-G c.1364+22502A>G - IntronicSNV - 8/8 7
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
16-53995584-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
16-53998687-C-G c.1364+30666C>G - IntronicSNV - 8/8 1
16-53998930-C-T c.1364+30909C>T - 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
16-54003483-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 6
16-54005489-G-A c.1364+37468G>A - IntronicSNV - 8/8 2
16-54009328-T-C c.1364+41307T>C - IntronicSNV - 8/8 2
16-54009501-G-A c.1364+41480G>A - IntronicSNV - 8/8 1
16-54009545-C-T c.1364+41524C>T - IntronicSNV - 8/8 1
16-54014267-G-C c.1364+46246G>C - IntronicSNV - 8/8 3
16-54016452-A-G c.1364+48431A>G - 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
16-54018921-G-A c.1364+50900G>A - IntronicSNV - 8/8 3
16-54019686-G-A c.1364+51665G>A - IntronicSNV - 8/8 2
16-54021009-G-A c.1364+52988G>A - 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
16-54024266-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
16-54027493-A-G c.1364+59472A>G - IntronicSNV - 8/8 1
16-54027971-T-C c.1364+59950T>C - IntronicSNV - 8/8 3
16-54029232-A-C c.1364+61211A>C - 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
16-54034941-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
16-54037622-G-C c.1364+69601G>C - IntronicSNV - 8/8 1
16-54037971-T-G c.1364+69950T>G - 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 1
16-54039486-C-T c.1364+71465C>T - IntronicSNV - 8/8 1
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
16-54049767-G-A c.1364+81746G>A - IntronicSNV - 8/8 2
16-54049767-G-C c.1364+81746G>C - IntronicSNV - 8/8 2
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 3
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 1
16-54061141-T-A c.1365-84533T>A - IntronicSNV - 8/8 2
16-54061141-T-C c.1365-84533T>C - IntronicSNV - 8/8 2
16-54061758-C-G c.1365-83916C>G - IntronicSNV - 8/8 1
16-54065210-C-T c.1365-80464C>T - IntronicSNV - 8/8 1
16-54065346-G-A c.1365-80328G>A - IntronicSNV - 8/8 1
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
16-54074627-T-C c.1365-71047T>C - IntronicSNV - 8/8 3
16-54075698-A-G c.1365-69976A>G - IntronicSNV - 8/8 3
16-54075698-A-T c.1365-69976A>T - IntronicSNV - 8/8 3
16-54076068-C-T c.1365-69606C>T - IntronicSNV - 8/8 1
16-54087859-C-A c.1365-57815C>A - IntronicSNV - 8/8 1
16-54090589-A-G c.1365-55085A>G - IntronicSNV - 8/8 4
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 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 2
16-54104500-G-A c.1365-41174G>A - IntronicSNV - 8/8 4
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
16-54110951-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 12
16-54115200-G-A c.1365-30474G>A - IntronicSNV - 8/8 1
16-54115285-A-G c.1365-30389A>G - IntronicSNV - 8/8 1
16-54115369-A-G c.1365-30305A>G - IntronicSNV - 8/8 1
16-54115369-A-T c.1365-30305A>T - IntronicSNV - 8/8 1
16-54115829-G-A c.1365-29845G>A - IntronicSNV - 8/8 5
16-54117511-G-A c.1365-28163G>A - IntronicSNV - 8/8 1
16-54118435-A-C c.1365-27239A>C - IntronicSNV - 8/8 2
16-54118863-C-T c.1365-26811C>T - IntronicSNV - 8/8 1
16-54119892-T-C c.1365-25782T>C - IntronicSNV - 8/8 2
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 1
16-54123389-A-T c.1365-22285A>T - IntronicSNV - 8/8 1
16-54126617-T-C c.1365-19057T>C - IntronicSNV - 8/8 2
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
16-54133650-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 5
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
16-54145677-C-T c.1368C>T p.Cys456Cys Synonymous 9/9 - 1
16-54145699-T-C c.1390T>C p.Leu464Leu Synonymous 9/9 - 1
16-54145701-A-G c.1392A>G p.Leu464Leu Synonymous 9/9 - 1
16-54145721-A-G c.1412A>G p.Glu471Gly Missense 9/9 - 1
16-54145754-C-T c.1445C>T p.Ser482Leu Missense 9/9 - 1
16-54145783-A-G c.1474A>G p.Ile492Val Missense 9/9 - 2
16-54145785-C-A c.1476C>A p.Ile492Ile Synonymous 9/9 - 1
16-54145785-C-T c.1476C>T p.Ile492Ile Synonymous 9/9 - 1
16-54145786-G-T c.1477G>T p.Val493Phe Missense 9/9 - 2
16-54147935-G-A c.*2108G>A - 3-UTRSNV 9/9 - 1
16-54148468-C-T c.*2641C>T - IntergenicSNV 9/9 - 2
16-54149532-G-A c.*3705G>A - IntergenicSNV 9/9 - 3
16-54150978-A-G c.*5151A>G - IntergenicSNV 9/9 - 3
16-54152048-A-T c.*6221A>T - IntergenicSNV 9/9 - 8
16-54152620-G-C c.*6793G>C - IntergenicSNV 9/9 - 1
16-54152730-A-G c.*6903A>G - IntergenicSNV 9/9 - 1
16-54153099-A-T c.*7272A>T - IntergenicSNV 9/9 - 1
16-54155742-T-C c.*9915T>C - IntergenicSNV 9/9 - 2