Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
10-114710517-T-C | c.2T>C | p.Met1? | Missense | 1/14 | - | 1 |
10-114710562-A-C | c.47A>C | p.Asp16Ala | Missense | 1/14 | - | 1 |
10-114710564-GA-AG | c.49_50delinsAG | p.Glu17Arg | Missense | 1/14 | - | 2 |
10-114710567-CT-GC | c.52_53delinsGC | p.Leu18Ala | Missense | 1/14 | - | 1 |
10-114710573-TC-GG | c.58_59delinsGG | p.Ser20Gly | Missense | 1/14 | - | 1 |
10-114710573-T-G | c.58T>G | p.Ser20Ala | Missense | 1/14 | - | 1 |
10-114710582-G-A | c.67G>A | p.Asp23Asn | Missense | 1/14 | - | 1 |
10-114710585-G-T | c.70G>T | p.Glu24* | Nonsense | 1/14 | - | 1 |
10-114710588-GGC-AAG | c.73_75delinsAAG | p.Gly25Lys | Missense | 1/14 | - | 1 |
10-114710594-C-G | c.79C>G | p.Gln27Glu | Missense | 1/14 | - | 1 |
10-114710608-C-T | c.93C>T | p.Ser31Ser | Synonymous | 1/14 | - | 1 |
10-114710666-G-A | c.151G>A | p.Glu51Lys | Missense | 1/14 | - | 1 |
10-114711350-C-A | c.365C>A | p.Ser122* | Nonsense | 3/14 | - | 1 |
10-114711983-A-G | c.381+617A>G | - | IntronicSNV | - | 3/13 | 6 |
10-114712154-C-G | c.381+788C>G | - | IntronicSNV | - | 3/13 | 2 |
10-114712154-C-T | c.381+788C>T | - | IntronicSNV | - | 3/13 | 2 |
10-114715689-C-G | c.381+4323C>G | - | IntronicSNV | - | 3/13 | 2 |
10-114715689-C-T | c.381+4323C>T | - | IntronicSNV | - | 3/13 | 2 |
10-114715930-A-G | c.381+4564A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114715930-A-T | c.381+4564A>T | - | IntronicSNV | - | 3/13 | 1 |
10-114717418-T-C | c.381+6052T>C | - | IntronicSNV | - | 3/13 | 1 |
10-114717471-C-A | c.381+6105C>A | - | IntronicSNV | - | 3/13 | 4 |
10-114717471-C-G | c.381+6105C>G | - | IntronicSNV | - | 3/13 | 4 |
10-114717471-C-T | c.381+6105C>T | - | IntronicSNV | - | 3/13 | 4 |
10-114721404-A-G | c.381+10038A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114722954-G-C | c.381+11588G>C | - | IntronicSNV | - | 3/13 | 2 |
10-114724473-A-G | c.381+13107A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114726177-T-A | c.381+14811T>A | - | IntronicSNV | - | 3/13 | 3 |
10-114726177-T-G | c.381+14811T>G | - | IntronicSNV | - | 3/13 | 3 |
10-114726843-G-A | c.381+15477G>A | - | IntronicSNV | - | 3/13 | 15 |
10-114730797-A-G | c.381+19431A>G | - | IntronicSNV | - | 3/13 | 10 |
10-114732882-T-C | c.381+21516T>C | - | IntronicSNV | - | 3/13 | 8 |
10-114734096-A-C | c.381+22730A>C | - | IntronicSNV | - | 3/13 | 4 |
10-114734096-A-G | c.381+22730A>G | - | IntronicSNV | - | 3/13 | 4 |
10-114736614-T-C | c.381+25248T>C | - | IntronicSNV | - | 3/13 | 7 |
10-114737633-C-T | c.381+26267C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114737777-C-T | c.381+26411C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114740745-G-A | c.381+29379G>A | - | IntronicSNV | - | 3/13 | 3 |
10-114742835-G-A | c.381+31469G>A | - | IntronicSNV | - | 3/13 | 2 |
10-114742835-G-T | c.381+31469G>T | - | IntronicSNV | - | 3/13 | 2 |
10-114743961-A-G | c.381+32595A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114745788-G-A | c.381+34422G>A | - | IntronicSNV | - | 3/13 | 6 |
10-114748497-C-T | c.381+37131C>T | - | IntronicSNV | - | 3/13 | 6 |
10-114748617-G-A | c.381+37251G>A | - | IntronicSNV | - | 3/13 | 3 |
10-114749018-G-A | c.381+37652G>A | - | IntronicSNV | - | 3/13 | 3 |
10-114749734-G-A | c.381+38368G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114750157-C-T | c.381+38791C>T | - | IntronicSNV | - | 3/13 | 2 |
10-114750500-A-G | c.381+39134A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114752058-G-A | c.381+40692G>A | - | IntronicSNV | - | 3/13 | 2 |
10-114752058-G-C | c.381+40692G>C | - | IntronicSNV | - | 3/13 | 2 |
10-114752503-T-C | c.381+41137T>C | - | IntronicSNV | - | 3/13 | 10 |
10-114753259-T-A | c.381+41893T>A | - | IntronicSNV | - | 3/13 | 1 |
10-114753259-T-C | c.381+41893T>C | - | IntronicSNV | - | 3/13 | 1 |
10-114753800-C-G | c.381+42434C>G | - | IntronicSNV | - | 3/13 | 1 |
10-114753800-C-T | c.381+42434C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114754071-T-C | c.381+42705T>C | - | IntronicSNV | - | 3/13 | 12 |
10-114754088-T-C | c.381+42722T>C | - | IntronicSNV | - | 3/13 | 144 |
10-114754601-G-A | c.381+43235G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114754784-T-C | c.381+43418T>C | - | IntronicSNV | - | 3/13 | 3 |
10-114755496-G-T | c.381+44130G>T | - | IntronicSNV | - | 3/13 | 2 |
10-114756041-A-G | c.382-43743A>G | - | IntronicSNV | - | 3/13 | 102 |
10-114756041-A-T | c.382-43743A>T | - | IntronicSNV | - | 3/13 | 102 |
10-114756258-C-T | c.382-43526C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114756285-G-C | c.382-43499G>C | - | IntronicSNV | - | 3/13 | 3 |
10-114757314-C-A | c.382-42470C>A | - | IntronicSNV | - | 3/13 | 1 |
10-114758349-C-G | c.382-41435C>G | - | IntronicSNV | - | 3/13 | 858 |
10-114758349-C-T | c.382-41435C>T | - | IntronicSNV | - | 3/13 | 858 |
10-114758779-G-T | c.382-41005G>T | - | IntronicSNV | - | 3/13 | 1 |
10-114759445-G-A | c.382-40339G>A | - | IntronicSNV | - | 3/13 | 2 |
10-114760284-C-T | c.382-39500C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114760933-G-A | c.382-38851G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114761719-G-A | c.382-38065G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114762237-G-A | c.382-37547G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114764959-C-G | c.382-34825C>G | - | IntronicSNV | - | 3/13 | 2 |
10-114764959-C-T | c.382-34825C>T | - | IntronicSNV | - | 3/13 | 2 |
10-114765747-C-A | c.382-34037C>A | - | IntronicSNV | - | 3/13 | 1 |
10-114766717-C-T | c.382-33067C>T | - | IntronicSNV | - | 3/13 | 6 |
10-114767771-G-A | c.382-32013G>A | - | IntronicSNV | - | 3/13 | 14 |
10-114768609-A-G | c.382-31175A>G | - | IntronicSNV | - | 3/13 | 2 |
10-114768609-A-T | c.382-31175A>T | - | IntronicSNV | - | 3/13 | 2 |
10-114768783-G-A | c.382-31001G>A | - | IntronicSNV | - | 3/13 | 1 |
10-114773608-A-G | c.382-26176A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114773926-C-T | c.382-25858C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114773927-A-G | c.382-25857A>G | - | IntronicSNV | - | 3/13 | 23 |
10-114777670-C-T | c.382-22114C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114777724-A-G | c.382-22060A>G | - | IntronicSNV | - | 3/13 | 12 |
10-114779013-C-T | c.382-20771C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114781297-A-C | c.382-18487A>C | - | IntronicSNV | - | 3/13 | 4 |
10-114782287-T-G | c.382-17497T>G | - | IntronicSNV | - | 3/13 | 3 |
10-114782803-T-C | c.382-16981T>C | - | IntronicSNV | - | 3/13 | 3 |
10-114783775-T-C | c.382-16009T>C | - | IntronicSNV | - | 3/13 | 1 |
10-114786154-A-G | c.382-13630A>G | - | IntronicSNV | - | 3/13 | 1 |
10-114787012-T-C | c.382-12772T>C | - | IntronicSNV | - | 3/13 | 5 |
10-114788815-T-C | c.382-10969T>C | - | IntronicSNV | - | 3/13 | 24 |
10-114789077-T-C | c.382-10707T>C | - | IntronicSNV | - | 3/13 | 3 |
10-114793823-T-A | c.382-5961T>A | - | IntronicSNV | - | 3/13 | 2 |
10-114793823-T-C | c.382-5961T>C | - | IntronicSNV | - | 3/13 | 2 |
10-114794719-C-T | c.382-5065C>T | - | IntronicSNV | - | 3/13 | 1 |
10-114795256-G-C | c.382-4528G>C | - | IntronicSNV | - | 3/13 | 2 |
10-114795256-G-T | c.382-4528G>T | - | IntronicSNV | - | 3/13 | 2 |
10-114796048-A-G | c.382-3736A>G | - | IntronicSNV | - | 3/13 | 3 |
10-114796117-A-G | c.382-3667A>G | - | IntronicSNV | - | 3/13 | 6 |
10-114797471-C-A | c.382-2313C>A | - | IntronicSNV | - | 3/13 | 3 |
10-114797471-C-G | c.382-2313C>G | - | IntronicSNV | - | 3/13 | 3 |
10-114801488-A-T | c.483+1603A>T | - | IntronicSNV | - | 4/13 | 1 |
10-114801525-G-A | c.483+1640G>A | - | IntronicSNV | - | 4/13 | 18 |
10-114805860-C-A | c.483+5975C>A | - | IntronicSNV | - | 4/13 | 3 |
10-114807047-G-A | c.483+7162G>A | - | IntronicSNV | - | 4/13 | 53 |
10-114807047-G-C | c.483+7162G>C | - | IntronicSNV | - | 4/13 | 53 |
10-114807047-G-T | c.483+7162G>T | - | IntronicSNV | - | 4/13 | 53 |
10-114808072-T-C | c.483+8187T>C | - | IntronicSNV | - | 4/13 | 15 |
10-114808902-G-A | c.483+9017G>A | - | IntronicSNV | - | 4/13 | 232 |
10-114808902-G-T | c.483+9017G>T | - | IntronicSNV | - | 4/13 | 232 |
10-114810240-T-A | c.483+10355T>A | - | IntronicSNV | - | 4/13 | 1 |
10-114810240-T-C | c.483+10355T>C | - | IntronicSNV | - | 4/13 | 1 |
10-114811316-T-C | c.483+11431T>C | - | IntronicSNV | - | 4/13 | 3 |
10-114812071-T-A | c.483+12186T>A | - | IntronicSNV | - | 4/13 | 1 |
10-114812071-T-C | c.483+12186T>C | - | IntronicSNV | - | 4/13 | 1 |
10-114817009-A-C | c.483+17124A>C | - | IntronicSNV | - | 4/13 | 1 |
10-114817236-A-G | c.483+17351A>G | - | IntronicSNV | - | 4/13 | 1 |
10-114820191-T-C | c.483+20306T>C | - | IntronicSNV | - | 4/13 | 3 |
10-114821249-T-C | c.483+21364T>C | - | IntronicSNV | - | 4/13 | 1 |
10-114821554-C-T | c.483+21669C>T | - | IntronicSNV | - | 4/13 | 2 |
10-114821807-T-G | c.483+21922T>G | - | IntronicSNV | - | 4/13 | 4 |
10-114822739-A-G | c.483+22854A>G | - | IntronicSNV | - | 4/13 | 1 |
10-114823426-A-G | c.483+23541A>G | - | IntronicSNV | - | 4/13 | 4 |
10-114823426-A-T | c.483+23541A>T | - | IntronicSNV | - | 4/13 | 4 |
10-114824473-G-A | c.483+24588G>A | - | IntronicSNV | - | 4/13 | 3 |
10-114824976-C-T | c.483+25091C>T | - | IntronicSNV | - | 4/13 | 4 |
10-114825813-A-G | c.483+25928A>G | - | IntronicSNV | - | 4/13 | 2 |
10-114833627-G-A | c.483+33742G>A | - | IntronicSNV | - | 4/13 | 1 |
10-114833850-C-A | c.483+33965C>A | - | IntronicSNV | - | 4/13 | 5 |
10-114833850-C-T | c.483+33965C>T | - | IntronicSNV | - | 4/13 | 5 |
10-114834498-G-A | c.483+34613G>A | - | IntronicSNV | - | 4/13 | 2 |
10-114834498-G-T | c.483+34613G>T | - | IntronicSNV | - | 4/13 | 2 |
10-114835956-A-C | c.483+36071A>C | - | IntronicSNV | - | 4/13 | 1 |
10-114835956-A-G | c.483+36071A>G | - | IntronicSNV | - | 4/13 | 1 |
10-114839716-G-A | c.483+39831G>A | - | IntronicSNV | - | 4/13 | 1 |
10-114839770-T-A | c.483+39885T>A | - | IntronicSNV | - | 4/13 | 1 |
10-114840494-G-A | c.483+40609G>A | - | IntronicSNV | - | 4/13 | 22 |
10-114843949-G-A | c.483+44064G>A | - | IntronicSNV | - | 4/13 | 2 |
10-114846649-A-G | c.483+46764A>G | - | IntronicSNV | - | 4/13 | 1 |
10-114846766-A-G | c.483+46881A>G | - | IntronicSNV | - | 4/13 | 2 |
10-114847143-A-T | c.483+47258A>T | - | IntronicSNV | - | 4/13 | 3 |
10-114847723-A-G | c.483+47838A>G | - | IntronicSNV | - | 4/13 | 3 |
10-114849353-C-T | c.483+49468C>T | - | IntronicSNV | - | 4/13 | 8 |
10-114854383-C-G | c.484-46560C>G | - | IntronicSNV | - | 4/13 | 2 |
10-114854383-C-T | c.484-46560C>T | - | IntronicSNV | - | 4/13 | 2 |
10-114855397-C-A | c.484-45546C>A | - | IntronicSNV | - | 4/13 | 7 |
10-114855397-C-G | c.484-45546C>G | - | IntronicSNV | - | 4/13 | 7 |
10-114855397-C-T | c.484-45546C>T | - | IntronicSNV | - | 4/13 | 7 |
10-114859164-G-T | c.484-41779G>T | - | IntronicSNV | - | 4/13 | 3 |
10-114859251-A-G | c.484-41692A>G | - | IntronicSNV | - | 4/13 | 2 |
10-114859463-G-A | c.484-41480G>A | - | IntronicSNV | - | 4/13 | 5 |
10-114861304-A-G | c.484-39639A>G | - | IntronicSNV | - | 4/13 | 2 |
10-114862936-G-A | c.484-38007G>A | - | IntronicSNV | - | 4/13 | 1 |
10-114862936-G-C | c.484-38007G>C | - | IntronicSNV | - | 4/13 | 1 |
10-114864297-T-C | c.484-36646T>C | - | IntronicSNV | - | 4/13 | 2 |
10-114865489-C-T | c.484-35454C>T | - | IntronicSNV | - | 4/13 | 1 |
10-114866172-G-A | c.484-34771G>A | - | IntronicSNV | - | 4/13 | 2 |
10-114868162-T-C | c.484-32781T>C | - | IntronicSNV | - | 4/13 | 2 |
10-114869792-G-A | c.484-31151G>A | - | IntronicSNV | - | 4/13 | 2 |
10-114880342-T-C | c.484-20601T>C | - | IntronicSNV | - | 4/13 | 2 |
10-114880551-A-T | c.484-20392A>T | - | IntronicSNV | - | 4/13 | 3 |
10-114883322-G-A | c.484-17621G>A | - | IntronicSNV | - | 4/13 | 1 |
10-114885871-G-T | c.484-15072G>T | - | IntronicSNV | - | 4/13 | 2 |
10-114887218-A-G | c.484-13725A>G | - | IntronicSNV | - | 4/13 | 1 |
10-114887722-T-C | c.484-13221T>C | - | IntronicSNV | - | 4/13 | 4 |
10-114888608-G-A | c.484-12335G>A | - | IntronicSNV | - | 4/13 | 1 |
10-114889838-C-T | c.484-11105C>T | - | IntronicSNV | - | 4/13 | 1 |
10-114892468-T-C | c.484-8475T>C | - | IntronicSNV | - | 4/13 | 2 |
10-114892468-T-G | c.484-8475T>G | - | IntronicSNV | - | 4/13 | 2 |
10-114898093-T-C | c.484-2850T>C | - | IntronicSNV | - | 4/13 | 5 |
10-114898914-A-C | c.484-2029A>C | - | IntronicSNV | - | 4/13 | 1 |
10-114900991-A-G | c.532A>G | p.Thr178Ala | Missense | 5/14 | - | 1 |
10-114900995-C-A | c.536C>A | p.Pro179His | Missense | 5/14 | - | 1 |
10-114900995-C-T | c.536C>T | p.Pro179Leu | Missense | 5/14 | - | 1 |
10-114901013-A-G | c.554A>G | p.Asn185Ser | Missense | 5/14 | - | 1 |
10-114901024-A-G | c.565A>G | p.Thr189Ala | Missense | 5/14 | - | 1 |
10-114901092-G-A | c.616+17G>A | - | IntronicSNV | - | 5/13 | 1 |
10-114901201-G-T | c.616+126G>T | - | IntronicSNV | - | 5/13 | 1 |
10-114902990-C-T | c.617-692C>T | - | IntronicSNV | - | 5/13 | 2 |
10-114903984-G-A | c.719+200G>A | - | IntronicSNV | - | 6/13 | 1 |
10-114904036-G-A | c.719+252G>A | - | IntronicSNV | - | 6/13 | 1 |
10-114904036-G-C | c.719+252G>C | - | IntronicSNV | - | 6/13 | 1 |
10-114904036-G-T | c.719+252G>T | - | IntronicSNV | - | 6/13 | 1 |
10-114904201-T-G | c.719+417T>G | - | IntronicSNV | - | 6/13 | 3 |
10-114905810-AGA-TGG | c.760_762delinsTGG | p.Arg254Trp | Missense | 7/14 | - | 1 |
10-114906714-G-A | c.806+858G>A | - | IntronicSNV | - | 7/13 | 1 |
10-114907055-A-G | c.806+1199A>G | - | IntronicSNV | - | 7/13 | 6 |
10-114908982-G-C | c.807-1775G>C | - | IntronicSNV | - | 7/13 | 1 |
10-114908982-G-T | c.807-1775G>T | - | IntronicSNV | - | 7/13 | 1 |
10-114909731-C-T | c.807-1026C>T | - | IntronicSNV | - | 7/13 | 31 |
10-114910412-G-C | c.807-345G>C | - | IntronicSNV | - | 7/13 | 1 |
10-114910788-A-G | c.838A>G | p.Thr280Ala | Missense | 8/14 | - | 1 |
10-114910854-C-T | c.904C>T | p.Gln302* | Nonsense | 8/14 | - | 1 |
10-114911079-T-C | c.932+197T>C | - | IntronicSNV | - | 8/13 | 3 |
10-114911485-AA-GC | c.934_935delinsGC | p.Lys312Ala | Missense | 9/14 | - | 1 |
10-114911486-A-G | c.935A>G | p.Lys312Arg | Missense | 9/14 | - | 1 |
10-114911520-G-T | c.969G>T | p.Lys323Asn | Missense | 9/14 | - | 1 |
10-114911638-C-T | c.1087C>T | p.Arg363Trp | Missense | 9/14 | - | 1 |
10-114912534-C-T | c.1200+335C>T | - | IntronicSNV | - | 10/13 | 1 |
10-114912656-G-A | c.1200+457G>A | - | IntronicSNV | - | 10/13 | 2 |
10-114913478-G-T | c.1200+1279G>T | - | IntronicSNV | - | 10/13 | 1 |
10-114913559-A-T | c.1200+1360A>T | - | IntronicSNV | - | 10/13 | 2 |
10-114914665-C-T | c.1200+2466C>T | - | IntronicSNV | - | 10/13 | 4 |
10-114914913-T-G | c.1200+2714T>G | - | IntronicSNV | - | 10/13 | 2 |
10-114915214-G-T | c.1201-2566G>T | - | IntronicSNV | - | 10/13 | 6 |
10-114916586-G-T | c.1201-1194G>T | - | IntronicSNV | - | 10/13 | 1 |
10-114920089-A-G | c.1373+338A>G | - | IntronicSNV | - | 13/13 | 1 |
10-114923825-C-T | c.1374-1489C>T | - | IntronicSNV | - | 13/13 | 10 |
10-114925327-TG-GC | c.1387_1388delinsGC | p.Cys463Ala | Missense | 14/14 | - | 2 |
10-114925369-C-A | c.1429C>A | p.Pro477Thr | Missense | 14/14 | - | 4 |
10-114925386-C-T | c.1446C>T | p.Ser482Ser | Synonymous | 14/14 | - | 1 |
10-114925441-G-A | c.1501G>A | p.Ala501Thr | Missense | 14/14 | - | 2 |
10-114925441-G-C | c.1501G>C | p.Ala501Pro | Missense | 14/14 | - | 2 |
10-114925573-TG-GC | c.1633_1634delinsGC | p.Cys545Ala | Missense | 14/14 | - | 1 |
10-114925758-T-C | c.*27T>C | - | 3-UTRSNV | 14/14 | - | 1 |
10-114926833-C-G | c.*1102C>G | - | 3-UTRSNV | 14/14 | - | 1 |