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 |