Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
13-107142499-A-G | c.*2889T>C | - | 3-UTRSNV | 5/5 | - | 2 |
13-107142687-C-T | c.*2701G>A | - | 3-UTRSNV | 5/5 | - | 1 |
13-107143292-T-A | c.*2096A>T | - | 3-UTRSNV | 5/5 | - | 1 |
13-107143637-G-A | c.*1751C>T | - | 3-UTRSNV | 5/5 | - | 1 |
13-107144320-G-A | c.*1068C>T | - | 3-UTRSNV | 5/5 | - | 10 |
13-107144328-T-G | c.*1060A>C | - | 3-UTRSNV | 5/5 | - | 6 |
13-107145394-C-A | c.996G>T | p.K332N | Missense | 5/5 | - | 2 |
13-107145394-C-G | c.996G>C | p.K332N | Missense | 5/5 | - | 1 |
13-107145401-T-C | c.989A>G | p.Y330C | Missense | 5/5 | - | 1 |
13-107145405-T-A | c.985A>T | p.I329F | Missense | 5/5 | - | 1 |
13-107145409-C-A | c.981G>T | p.A327= | Synonymous | 5/5 | - | 1 |
13-107145409-C-G | c.981G>C | p.A327= | Synonymous | 5/5 | - | 1 |
13-107145409-C-T | c.981G>A | p.A327= | Synonymous | 5/5 | - | 3 |
13-107145412-C-T | c.978G>A | p.P326= | Synonymous | 5/5 | - | 1 |
13-107145416-C-T | c.974G>A | p.S325N | Missense | 5/5 | - | 1 |
13-107145418-C-A | c.972G>T | p.Q324H | Missense | 5/5 | - | 1 |
13-107145418-C-G | c.972G>C | p.Q324H | Missense | 5/5 | - | 1 |
13-107145421-C-A | c.969G>T | p.P323= | Synonymous | 5/5 | - | 1 |
13-107145421-C-G | c.969G>C | p.P323= | Synonymous | 5/5 | - | 1 |
13-107145421-C-T | c.969G>A | p.P323= | Synonymous | 5/5 | - | 1 |
13-107145423-G-A | c.967C>T | p.P323S | Missense | 5/5 | - | 4 |
13-107145427-C-A | c.963G>T | p.M321I | Missense | 5/5 | - | 5 |
13-107145427-C-G | c.963G>C | p.M321I | Missense | 5/5 | - | 2 |
13-107145427-C-T | c.963G>A | p.M321I | Missense | 5/5 | - | 4 |
13-107145430-C-T | c.960G>A | p.E320= | Synonymous | 5/5 | - | 3 |
13-107145435-G-A | c.955C>T | p.Q319* | Nonsense | 5/5 | - | 3 |
13-107145438-C-T | c.952G>A | p.V318I | Missense | 5/5 | - | 1 |
13-107145439-G-A | c.951C>T | p.I317= | Synonymous | 5/5 | - | 1 |
13-107145447-C-A | c.943G>T | p.V315L | Missense | 5/5 | - | 1 |
13-107145449-G-A | c.941C>T | p.P314L | Missense | 5/5 | - | 2 |
13-107145449-G-T | c.941C>A | p.P314Q | Missense | 5/5 | - | 1 |
13-107145450-G-T | c.940C>A | p.P314T | Missense | 5/5 | - | 1 |
13-107145453-G-A | c.937C>T | p.H313Y | Missense | 5/5 | - | 2 |
13-107145453-GC-G | c.936del | p.H313Tfs*36 | Frameshift | 5/5 | - | 1 |
13-107145456-C-T | c.934G>A | p.G312R | Missense | 5/5 | - | 2 |
13-107145457-G-A | c.933C>T | p.Y311= | Synonymous | 5/5 | - | 3 |
13-107145458-T-C | c.932A>G | p.Y311C | Missense | 5/5 | - | 4 |
13-107145463-G-A | c.927C>T | p.G309= | Synonymous | 5/5 | - | 16 |
13-107145463-G-C | c.927C>G | p.G309= | Synonymous | 5/5 | - | 21 |
13-107145463-GC-CT | c.926_927delinsAG | p.G309E | Missense | 5/5 | - | 1 |
13-107145463-G-T | c.927C>A | p.G309= | Synonymous | 5/5 | - | 1 |
13-107145464-C-T | c.926G>A | p.G309E | Missense | 5/5 | - | 2 |
13-107145465-C-T | c.925G>A | p.G309R | Missense | 5/5 | - | 3 |
13-107145466-G-A | c.924C>T | p.S308= | Synonymous | 5/5 | - | 3 |
13-107145467-C-A | c.923G>T | p.S308I | Missense | 5/5 | - | 1 |
13-107145475-C-G | c.915G>C | p.E305D | Missense | 5/5 | - | 1 |
13-107145478-G-A | c.912C>T | p.Y304= | Synonymous | 5/5 | - | 2 |
13-107145487-G-A | c.903C>T | p.C301= | Synonymous | 5/5 | - | 1 |
13-107145493-G-A | c.897C>T | p.V299= | Synonymous | 5/5 | - | 1 |
13-107145495-C-T | c.895G>A | p.V299I | Missense | 5/5 | - | 4 |
13-107145496-G-A | c.894C>T | p.S298= | Synonymous | 5/5 | - | 1 |
13-107145498-T-A | c.892A>T | p.S298C | Missense | 5/5 | - | 1 |
13-107145500-T-A | c.890A>T | p.D297V | Missense | 5/5 | - | 1 |
13-107145501-C-T | c.889G>A | p.D297N | Missense | 5/5 | - | 2 |
13-107145502-C-T | c.888G>A | p.A296= | Synonymous | 5/5 | - | 2 |
13-107145503-G-A | c.887C>T | p.A296V | Missense | 5/5 | - | 1 |
13-107145505-A-C | c.885T>G | p.T295= | Synonymous | 5/5 | - | 1 |
13-107145505-A-G | c.885T>C | p.T295= | Synonymous | 5/5 | - | 1 |
13-107145505-A-T | c.885T>A | p.T295= | Synonymous | 5/5 | - | 1 |
13-107145514-C-A | c.876G>T | p.P292= | Synonymous | 5/5 | - | 2 |
13-107145514-C-G | c.876G>C | p.P292= | Synonymous | 5/5 | - | 2 |
13-107145514-C-T | c.876G>A | p.P292= | Synonymous | 5/5 | - | 4 |
13-107145515-G-A | c.875C>T | p.P292L | Missense | 5/5 | - | 5 |
13-107145515-G-T | c.875C>A | p.P292Q | Missense | 5/5 | - | 1 |
13-107145516-G-A | c.874C>T | p.P292S | Missense | 5/5 | - | 1 |
13-107145526-G-A | c.864C>T | p.D288= | Synonymous | 5/5 | - | 3 |
13-107145532-G-T | c.858C>A | p.P286= | Synonymous | 5/5 | - | 1 |
13-107145533-G-A | c.857C>T | p.P286L | Missense | 5/5 | - | 2 |
13-107145534-G-A | c.856C>T | p.P286S | Missense | 5/5 | - | 2 |
13-107145537-C-T | c.853G>A | p.E285K | Missense | 5/5 | - | 1 |
13-107145541-G-C | c.849C>G | p.G283= | Synonymous | 5/5 | - | 1 |
13-107145542-C-A | c.848G>T | p.G283V | Missense | 5/5 | - | 2 |
13-107145543-C-G | c.847G>C | p.G283R | Missense | 5/5 | - | 1 |
13-107145543-C-T | c.847G>A | p.G283S | Missense | 5/5 | - | 2 |
13-107145544-G-A | c.846C>T | p.N282= | Synonymous | 5/5 | - | 5 |
13-107145543-CGTT-C | c.844_846del | p.N282del | InFrameDeletion | 5/5 | - | 2 |
13-107145554-C-A | c.836G>T | p.G279V | Missense | 5/5 | - | 1 |
13-107145555-C-T | c.835G>A | p.G279S | Missense | 5/5 | - | 2 |
13-107145556-G-A | c.834C>T | p.S278= | Synonymous | 5/5 | - | 4 |
13-107145559-G-A | c.831C>T | p.R277= | Synonymous | 5/5 | - | 2 |
13-107145560-C-T | c.830G>A | p.R277H | Missense | 5/5 | - | 1 |
13-107145561-G-A | c.829C>T | p.R277C | Missense | 5/5 | - | 3 |
13-107145564-T-A | c.826A>T | p.K276* | Nonsense | 5/5 | - | 4 |
13-107145577-T-C | c.813A>G | p.T271= | Synonymous | 5/5 | - | 2 |
13-107145586-C-A | c.804G>T | p.S268= | Synonymous | 5/5 | - | 2 |
13-107145586-C-G | c.804G>C | p.S268= | Synonymous | 5/5 | - | 1 |
13-107145586-C-T | c.804G>A | p.S268= | Synonymous | 5/5 | - | 4 |
13-107145587-G-A | c.803C>T | p.S268L | Missense | 5/5 | - | 4 |
13-107145589-C-G | c.801G>C | p.L267= | Synonymous | 5/5 | - | 1 |
13-107145592-C-T | c.798G>A | p.T266= | Synonymous | 5/5 | - | 1 |
13-107145593-G-A | c.797C>T | p.T266M | Missense | 5/5 | - | 2 |
13-107145594-T-C | c.796A>G | p.T266A | Missense | 5/5 | - | 1 |
13-107145597-T-C | c.793A>G | p.T265A | Missense | 5/5 | - | 2 |
13-107145598-C-T | c.792G>A | p.T264= | Synonymous | 5/5 | - | 1 |
13-107145599-G-A | c.791C>T | p.T264M | Missense | 5/5 | - | 4 |
13-107145600-T-C | c.790A>G | p.T264A | Missense | 5/5 | - | 1 |
13-107145607-C-A | c.783G>T | p.P261= | Synonymous | 5/5 | - | 2 |
13-107145607-C-T | c.783G>A | p.P261= | Synonymous | 5/5 | - | 3 |
13-107145608-G-A | c.782C>T | p.P261L | Missense | 5/5 | - | 12 |
13-107145608-G-C | c.782C>G | p.P261R | Missense | 5/5 | - | 2 |
13-107145609-G-C | c.781C>G | p.P261A | Missense | 5/5 | - | 2 |
13-107145610-C-A | c.780G>T | p.S260= | Synonymous | 5/5 | - | 2 |
13-107145610-C-G | c.780G>C | p.S260= | Synonymous | 5/5 | - | 1 |
13-107145610-C-T | c.780G>A | p.S260= | Synonymous | 5/5 | - | 4 |
13-107145611-G-A | c.779C>T | p.S260L | Missense | 5/5 | - | 1 |
13-107145618-T-C | c.772A>G | p.K258E | Missense | 5/5 | - | 1 |
13-107145620-C-T | c.770G>A | p.R257K | Missense | 5/5 | - | 1 |
13-107145623-T-A | c.767A>T | p.H256L | Missense | 5/5 | - | 3 |
13-107145628-C-A | c.762G>T | p.R254S | Missense | 5/5 | - | 2 |
13-107145628-CCT-ATG | c.760_762delinsCAT | p.R254H | Missense | 5/5 | - | 1 |
13-107145628-C-G | c.762G>C | p.R254S | Missense | 5/5 | - | 2 |
13-107145629-C-T | c.761G>A | p.R254K | Missense | 5/5 | - | 1 |
13-107145629-CT-TG | c.760_761delinsCA | p.R254Q | Missense | 5/5 | - | 1 |
13-107145632-CG-TA | c.757_758delinsTA | p.R253* | Nonsense | 5/5 | - | 1 |
13-107145632-C-T | c.758G>A | p.R253Q | Missense | 5/5 | - | 1 |
13-107145635-T-C | c.755A>G | p.Y252C | Missense | 5/5 | - | 1 |
13-107145642-G-A | c.748C>T | p.L250= | Synonymous | 5/5 | - | 1 |
13-107145643-C-T | c.747G>A | p.L249= | Synonymous | 5/5 | - | 2 |
13-107145645-A-G | c.745T>C | p.L249= | Synonymous | 5/5 | - | 1 |
13-107145650-AC-A | c.739del | p.V247Sfs*4 | Frameshift | 5/5 | - | 1 |
13-107145652-C-A | c.738G>T | p.V246= | Synonymous | 5/5 | - | 1 |
13-107145655-C-A | c.735G>T | p.L245= | Synonymous | 5/5 | - | 1 |
13-107145663-T-C | c.727A>G | p.I243V | Missense | 5/5 | - | 1 |
13-107145669-T-C | c.721A>G | p.I241V | Missense | 5/5 | - | 1 |
13-107145672-C-T | c.718G>A | p.V240I | Missense | 5/5 | - | 5 |
13-107145673-G-A | c.717C>T | p.I239= | Synonymous | 5/5 | - | 1 |
13-107145676-G-A | c.714C>T | p.F238= | Synonymous | 5/5 | - | 1 |
13-107145682-G-A | c.708C>T | p.I236= | Synonymous | 5/5 | - | 1 |
13-107145689-C-A | c.701G>T | p.G234V | Missense | 5/5 | - | 1 |
13-107145691-T-A | c.699A>T | p.S233= | Synonymous | 5/5 | - | 1 |
13-107145691-T-C | c.699A>G | p.S233= | Synonymous | 5/5 | - | 1 |
13-107145691-T-G | c.699A>C | p.S233= | Synonymous | 5/5 | - | 1 |
13-107145699-T-C | c.691A>G | p.I231V | Missense | 5/5 | - | 1 |
13-107145700-C-A | c.690G>T | p.G230= | Synonymous | 5/5 | - | 1 |
13-107145700-C-G | c.690G>C | p.G230= | Synonymous | 5/5 | - | 1 |
13-107145700-C-T | c.690G>A | p.G230= | Synonymous | 5/5 | - | 1 |
13-107145708-A-G | c.682T>C | p.F228L | Missense | 5/5 | - | 1 |
13-107145713-G-T | c.677C>A | p.A226D | Missense | 5/5 | - | 1 |
13-107145720-C-T | c.670G>A | p.E224K | Missense | 5/5 | - | 2 |
13-107145721-G-A | c.669C>T | p.S223= | Synonymous | 5/5 | - | 1 |
13-107145727-G-A | c.663C>T | p.L221= | Synonymous | 5/5 | - | 4 |
13-107145736-G-A | c.654C>T | p.N218= | Synonymous | 5/5 | - | 2 |
13-107145743-G-A | c.647C>T | p.S216L | Missense | 5/5 | - | 3 |
13-107145751-G-A | c.639C>T | p.A213= | Synonymous | 5/5 | - | 6 |
13-107145751-G-C | c.639C>G | p.A213= | Synonymous | 5/5 | - | 1 |
13-107145751-G-T | c.639C>A | p.A213= | Synonymous | 5/5 | - | 3 |
13-107145753-C-A | c.637G>T | p.A213S | Missense | 5/5 | - | 1 |
13-107145753-C-T | c.637G>A | p.A213T | Missense | 5/5 | - | 1 |
13-107145762-C-T | c.628G>A | p.G210S | Missense | 5/5 | - | 1 |
13-107145763-G-A | c.627C>T | p.D209= | Synonymous | 5/5 | - | 2 |
13-107145771-T-C | c.619A>G | p.S207G | Missense | 5/5 | - | 1 |
13-107145773-G-T | c.617C>A | p.S206Y | Missense | 5/5 | - | 3 |
13-107145776-C-T | c.614G>A | p.G205D | Missense | 5/5 | - | 2 |
13-107145787-G-A | c.614-11C>T | - | IntronicSNV | - | 4/4 | 1 |
13-107145829-A-T | c.614-53T>A | - | IntronicSNV | - | 4/4 | 6 |
13-107145904-C-T | c.614-128G>A | - | IntronicSNV | - | 4/4 | 3 |
13-107146510-G-A | c.613+719C>T | - | IntronicSNV | - | 4/4 | 1 |
13-107147011-C-T | c.613+218G>A | - | IntronicSNV | - | 4/4 | 1 |
13-107147231-G-A | c.611C>T | p.P204L | Missense | 4/5 | - | 3 |
13-107147245-A-C | c.597T>G | p.F199L | Missense | 4/5 | - | 1 |
13-107147245-A-T | c.597T>A | p.F199L | Missense | 4/5 | - | 1 |
13-107147247-A-G | c.595T>C | p.F199L | Missense | 4/5 | - | 1 |
13-107147256-T-C | c.586A>G | p.T196A | Missense | 4/5 | - | 1 |
13-107147258-G-T | c.584C>A | p.T195K | Missense | 4/5 | - | 1 |
13-107147261-G-A | c.581C>T | p.S194L | Missense | 4/5 | - | 1 |
13-107147264-C-T | c.578G>A | p.S193N | Missense | 4/5 | - | 1 |
13-107147270-C-A | c.572G>T | p.G191V | Missense | 4/5 | - | 2 |
13-107147281-A-G | c.561T>C | p.A187= | Synonymous | 4/5 | - | 1 |
13-107147282-G-A | c.560C>T | p.A187V | Missense | 4/5 | - | 2 |
13-107147290-T-G | c.552A>C | p.E184D | Missense | 4/5 | - | 1 |
13-107147295-G-A | c.547C>T | p.P183S | Missense | 4/5 | - | 2 |
13-107147297-C-T | c.545G>A | p.R182H | Missense | 4/5 | - | 4 |
13-107147304-T-C | c.538A>G | p.T180A | Missense | 4/5 | - | 1 |
13-107147310-C-T | c.532G>A | p.D178N | Missense | 4/5 | - | 1 |
13-107147311-T-G | c.531A>C | p.K177N | Missense | 4/5 | - | 1 |
13-107147313-T-G | c.529A>C | p.K177Q | Missense | 4/5 | - | 1 |
13-107147318-CT-GG | c.523_524delinsCC | p.R175P | Missense | 4/5 | - | 1 |
13-107147326-T-A | c.516A>T | p.G172= | Synonymous | 4/5 | - | 3 |
13-107147326-T-C | c.516A>G | p.G172= | Synonymous | 4/5 | - | 2 |
13-107147326-T-G | c.516A>C | p.G172= | Synonymous | 4/5 | - | 2 |
13-107147327-C-T | c.515G>A | p.G172E | Missense | 4/5 | - | 2 |
13-107147329-A-G | c.513T>C | p.A171= | Synonymous | 4/5 | - | 1 |
13-107147335-A-G | c.507T>C | p.S169= | Synonymous | 4/5 | - | 2 |
13-107147339-G-A | c.503C>T | p.A168V | Missense | 4/5 | - | 1 |
13-107147340-C-A | c.502G>T | p.A168S | Missense | 4/5 | - | 1 |
13-107147847-T-TAA | c.499+248_499+249insTT | - | IntronicInsertion | - | 3/4 | 1 |
13-107147850-TC-T | c.499+246del | - | IntronicDeletion | - | 3/4 | 1 |
13-107147846-TTATC-T | c.499+246_499+249del | - | IntronicDeletion | - | 3/4 | 2 |
13-107148020-C-T | c.499+76G>A | - | IntronicSNV | - | 3/4 | 1 |
13-107148049-G-A | c.499+47C>T | - | IntronicSNV | - | 3/4 | 1 |
13-107148049-G-T | c.499+47C>A | - | IntronicSNV | - | 3/4 | 1 |
13-107148093-T-C | c.499+3A>G | - | IntronicSNV | - | 3/4 | 1 |
13-107148096-C-A | c.499G>T | p.D167Y | Missense | 3/5 | - | 1 |
13-107148097-T-G | c.498A>C | p.Q166H | Missense | 3/5 | - | 1 |
13-107148100-T-C | c.495A>G | p.G165= | Synonymous | 3/5 | - | 1 |
13-107148105-C-T | c.490G>A | p.V164I | Missense | 3/5 | - | 1 |
13-107148107-T-C | c.488A>G | p.K163R | Missense | 3/5 | - | 1 |
13-107148115-G-A | c.480C>T | p.I160= | Synonymous | 3/5 | - | 2 |
13-107148116-A-T | c.479T>A | p.I160N | Missense | 3/5 | - | 2 |
13-107148118-C-A | c.477G>T | p.K159N | Missense | 3/5 | - | 1 |
13-107148121-C-A | c.474G>T | p.M158I | Missense | 3/5 | - | 4 |
13-107148121-C-G | c.474G>C | p.M158I | Missense | 3/5 | - | 4 |
13-107148121-C-T | c.474G>A | p.M158I | Missense | 3/5 | - | 5 |
13-107148126-C-A | c.469G>T | p.A157S | Missense | 3/5 | - | 1 |
13-107148128-C-T | c.467G>A | p.R156K | Missense | 3/5 | - | 1 |
13-107148141-C-A | c.454G>T | p.V152L | Missense | 3/5 | - | 1 |
13-107148141-C-G | c.454G>C | p.V152L | Missense | 3/5 | - | 1 |
13-107148147-C-A | c.448G>T | p.G150* | Nonsense | 3/5 | - | 1 |
13-107148148-C-A | c.447G>T | p.E149D | Missense | 3/5 | - | 2 |
13-107148149-T-A | c.446A>T | p.E149V | Missense | 3/5 | - | 1 |
13-107148154-G-A | c.441C>T | p.N147= | Synonymous | 3/5 | - | 1 |
13-107148163-G-A | c.432C>T | p.G144= | Synonymous | 3/5 | - | 1 |
13-107148163-G-C | c.432C>G | p.G144= | Synonymous | 3/5 | - | 1 |
13-107148163-G-T | c.432C>A | p.G144= | Synonymous | 3/5 | - | 1 |
13-107148167-T-C | c.428A>G | p.E143G | Missense | 3/5 | - | 2 |
13-107148169-C-T | c.426G>A | p.L142= | Synonymous | 3/5 | - | 1 |
13-107148171-A-G | c.424T>C | p.L142= | Synonymous | 3/5 | - | 1 |
13-107148173-G-T | c.422C>A | p.S141Y | Missense | 3/5 | - | 1 |
13-107148183-A-G | c.412T>C | p.S138P | Missense | 3/5 | - | 1 |
13-107149684-T-C | c.407-1496A>G | - | IntronicSNV | - | 2/4 | 1 |
13-107152969-C-G | c.407-4781G>C | - | IntronicSNV | - | 2/4 | 1 |
13-107152991-G-A | c.407-4803C>T | - | IntronicSNV | - | 2/4 | 1 |
13-107152991-G-C | c.407-4803C>G | - | IntronicSNV | - | 2/4 | 1 |
13-107153270-A-G | c.407-5082T>C | - | IntronicSNV | - | 2/4 | 1 |
13-107153270-A-T | c.407-5082T>A | - | IntronicSNV | - | 2/4 | 1 |
13-107154744-T-A | c.407-6556A>T | - | IntronicSNV | - | 2/4 | 1 |
13-107154744-T-C | c.407-6556A>G | - | IntronicSNV | - | 2/4 | 1 |
13-107157120-G-A | c.406+7757C>T | - | IntronicSNV | - | 2/4 | 2 |
13-107157709-C-T | c.406+7168G>A | - | IntronicSNV | - | 2/4 | 2 |
13-107158277-C-G | c.406+6600G>C | - | IntronicSNV | - | 2/4 | 1 |
13-107158926-A-G | c.406+5951T>C | - | IntronicSNV | - | 2/4 | 1 |
13-107159446-G-A | c.406+5431C>T | - | IntronicSNV | - | 2/4 | 4 |
13-107159446-G-T | c.406+5431C>A | - | IntronicSNV | - | 2/4 | 4 |
13-107159518-G-A | c.406+5359C>T | - | IntronicSNV | - | 2/4 | 1 |
13-107160625-T-A | c.406+4252A>T | - | IntronicSNV | - | 2/4 | 1 |
13-107160625-T-C | c.406+4252A>G | - | IntronicSNV | - | 2/4 | 1 |
13-107160908-T-C | c.406+3969A>G | - | IntronicSNV | - | 2/4 | 1 |
13-107160957-G-C | c.406+3920C>G | - | IntronicSNV | - | 2/4 | 1 |
13-107160957-G-T | c.406+3920C>A | - | IntronicSNV | - | 2/4 | 1 |
13-107162860-A-G | c.406+2017T>C | - | IntronicSNV | - | 2/4 | 2 |
13-107162943-A-G | c.406+1934T>C | - | IntronicSNV | - | 2/4 | 2 |
13-107162943-A-T | c.406+1934T>A | - | IntronicSNV | - | 2/4 | 2 |
13-107164885-T-C | c.398A>G | p.Y133C | Missense | 2/5 | - | 2 |
13-107164887-AATAATCTTTGT-A | c.386_396del | p.N129Ifs*15 | Frameshift | 2/5 | - | 2 |
13-107164887-A-G | c.396T>C | p.Y132= | Synonymous | 2/5 | - | 1 |
13-107164887-ATAATCTTTGT-A | c.386_395del | p.N129Ifs*27 | Frameshift | 2/5 | - | 2 |
13-107164889-A-C | c.394T>G | p.Y132D | Missense | 2/5 | - | 1 |
13-107164889-A-G | c.394T>C | p.Y132H | Missense | 2/5 | - | 4 |
13-107164893-T-C | c.390A>G | p.K130= | Synonymous | 2/5 | - | 1 |
13-107164893-T-G | c.390A>C | p.K130N | Missense | 2/5 | - | 1 |
13-107164897-T-A | c.386A>T | p.N129I | Missense | 2/5 | - | 1 |
13-107164902-C-T | c.381G>A | p.Q127= | Synonymous | 2/5 | - | 1 |
13-107164904-G-A | c.379C>T | p.Q127* | Nonsense | 2/5 | - | 1 |
13-107164904-G-C | c.379C>G | p.Q127E | Missense | 2/5 | - | 2 |
13-107164910-C-T | c.373G>A | p.E125K | Missense | 2/5 | - | 1 |
13-107164913-G-T | c.370C>A | p.L124I | Missense | 2/5 | - | 1 |
13-107164918-C-A | c.365G>T | p.W122L | Missense | 2/5 | - | 2 |
13-107164932-G-A | c.351C>T | p.F117= | Synonymous | 2/5 | - | 1 |
13-107164934-A-T | c.349T>A | p.F117I | Missense | 2/5 | - | 1 |
13-107164944-C-T | c.339G>A | p.K113= | Synonymous | 2/5 | - | 1 |
13-107164947-G-A | c.336C>T | p.I112= | Synonymous | 2/5 | - | 2 |
13-107164955-A-T | c.328T>A | p.F110I | Missense | 2/5 | - | 2 |
13-107164959-G-C | c.324C>G | p.I108M | Missense | 2/5 | - | 1 |
13-107164961-T-C | c.322A>G | p.I108V | Missense | 2/5 | - | 2 |
13-107164967-G-A | c.316C>T | p.Q106* | Nonsense | 2/5 | - | 1 |
13-107164968-G-A | c.315C>T | p.D105= | Synonymous | 2/5 | - | 1 |
13-107164970-C-A | c.313G>T | p.D105Y | Missense | 2/5 | - | 3 |
13-107164975-T-C | c.308A>G | p.K103R | Missense | 2/5 | - | 1 |
13-107164991-G-T | c.292C>A | p.L98I | Missense | 2/5 | - | 1 |
13-107164993-G-A | c.290C>T | p.P97L | Missense | 2/5 | - | 2 |
13-107164994-G-A | c.289C>T | p.P97S | Missense | 2/5 | - | 1 |
13-107164995-G-A | c.288C>T | p.T96= | Synonymous | 2/5 | - | 1 |
13-107164995-G-C | c.288C>G | p.T96= | Synonymous | 2/5 | - | 1 |
13-107164995-G-T | c.288C>A | p.T96= | Synonymous | 2/5 | - | 1 |
13-107165003-C-T | c.280G>A | p.E94K | Missense | 2/5 | - | 2 |
13-107165012-T-C | c.271A>G | p.I91V | Missense | 2/5 | - | 1 |
13-107165023-T-G | c.260A>C | p.D87A | Missense | 2/5 | - | 1 |
13-107165024-C-A | c.259G>T | p.D87Y | Missense | 2/5 | - | 4 |
13-107165030-G-A | c.253C>T | p.Q85* | Nonsense | 2/5 | - | 1 |
13-107165033-C-G | c.250G>C | p.D84H | Missense | 2/5 | - | 1 |
13-107165039-C-T | c.244G>A | p.D82N | Missense | 2/5 | - | 1 |
13-107165040-A-G | c.243T>C | p.V81= | Synonymous | 2/5 | - | 1 |
13-107165044-A-C | c.239T>G | p.M80R | Missense | 2/5 | - | 2 |
13-107165048-A-G | c.235T>C | p.Y79H | Missense | 2/5 | - | 6 |
13-107165049-A-C | c.234T>G | p.V78= | Synonymous | 2/5 | - | 1 |
13-107165049-A-G | c.234T>C | p.V78= | Synonymous | 2/5 | - | 1 |
13-107165049-A-T | c.234T>A | p.V78= | Synonymous | 2/5 | - | 1 |
13-107165054-T-C | c.229A>G | p.K77E | Missense | 2/5 | - | 1 |
13-107165059-T-G | c.224A>C | p.Y75S | Missense | 2/5 | - | 2 |
13-107165063-C-T | c.220G>A | p.E74K | Missense | 2/5 | - | 2 |
13-107165070-G-A | c.213C>T | p.G71= | Synonymous | 2/5 | - | 1 |
13-107165070-G-C | c.213C>G | p.G71= | Synonymous | 2/5 | - | 1 |
13-107165070-G-T | c.213C>A | p.G71= | Synonymous | 2/5 | - | 1 |
13-107165078-T-C | c.205A>G | p.T69A | Missense | 2/5 | - | 1 |
13-107165086-T-G | c.197A>C | p.D66A | Missense | 2/5 | - | 1 |
13-107165088-C-A | c.195G>T | p.V65= | Synonymous | 2/5 | - | 1 |
13-107165102-T-A | c.181A>T | p.I61F | Missense | 2/5 | - | 1 |
13-107165105-T-A | c.178A>T | p.I60F | Missense | 2/5 | - | 1 |
13-107165116-T-A | c.167A>T | p.D56V | Missense | 2/5 | - | 1 |
13-107165119-C-T | c.164G>A | p.G55E | Missense | 2/5 | - | 1 |
13-107165120-C-G | c.163G>C | p.G55R | Missense | 2/5 | - | 1 |
13-107165120-C-T | c.163G>A | p.G55R | Missense | 2/5 | - | 1 |
13-107165124-C-T | c.159G>A | p.Q53= | Synonymous | 2/5 | - | 1 |
13-107165131-T-C | c.152A>G | p.Y51C | Missense | 2/5 | - | 1 |
13-107165137-A-G | c.146T>C | p.V49A | Missense | 2/5 | - | 2 |
13-107165142-T-A | c.141A>T | p.G47= | Synonymous | 2/5 | - | 3 |
13-107165142-T-C | c.141A>G | p.G47= | Synonymous | 2/5 | - | 3 |
13-107165142-T-G | c.141A>C | p.G47= | Synonymous | 2/5 | - | 4 |
13-107165145-T-C | c.138A>G | p.Q46= | Synonymous | 2/5 | - | 1 |
13-107165146-T-C | c.137A>G | p.Q46R | Missense | 2/5 | - | 1 |
13-107165151-A-C | c.132T>G | p.P44= | Synonymous | 2/5 | - | 1 |
13-107165151-A-G | c.132T>C | p.P44= | Synonymous | 2/5 | - | 2 |
13-107165151-A-T | c.132T>A | p.P44= | Synonymous | 2/5 | - | 1 |
13-107165155-A-G | c.128T>C | p.L43P | Missense | 2/5 | - | 1 |
13-107165156-G-C | c.127C>G | p.L43V | Missense | 2/5 | - | 1 |
13-107165225-A-T | c.123-65T>A | - | IntronicSNV | - | 1/4 | 1 |
13-107165255-C-G | c.123-95G>C | - | IntronicSNV | - | 1/4 | 8 |
13-107166694-C-T | c.123-1534G>A | - | IntronicSNV | - | 1/4 | 2 |
13-107167490-G-C | c.123-2330C>G | - | IntronicSNV | - | 1/4 | 1 |
13-107167490-G-T | c.123-2330C>A | - | IntronicSNV | - | 1/4 | 1 |
13-107167539-C-T | c.123-2379G>A | - | IntronicSNV | - | 1/4 | 2 |
13-107168649-C-A | c.123-3489G>T | - | IntronicSNV | - | 1/4 | 1 |
13-107168649-C-G | c.123-3489G>C | - | IntronicSNV | - | 1/4 | 1 |
13-107168649-C-T | c.123-3489G>A | - | IntronicSNV | - | 1/4 | 1 |
13-107169394-G-A | c.123-4234C>T | - | IntronicSNV | - | 1/4 | 1 |
13-107170041-C-T | c.123-4881G>A | - | IntronicSNV | - | 1/4 | 1 |
13-107171744-A-G | c.123-6584T>C | - | IntronicSNV | - | 1/4 | 1 |
13-107171985-T-C | c.123-6825A>G | - | IntronicSNV | - | 1/4 | 1 |
13-107171985-T-G | c.123-6825A>C | - | IntronicSNV | - | 1/4 | 1 |
13-107172275-A-G | c.123-7115T>C | - | IntronicSNV | - | 1/4 | 1 |
13-107173356-G-A | c.123-8196C>T | - | IntronicSNV | - | 1/4 | 1 |
13-107173465-G-A | c.123-8305C>T | - | IntronicSNV | - | 1/4 | 1 |
13-107179974-T-A | c.122+7217A>T | - | IntronicSNV | - | 1/4 | 1 |
13-107179974-T-G | c.122+7217A>C | - | IntronicSNV | - | 1/4 | 1 |
13-107181819-A-C | c.122+5372T>G | - | IntronicSNV | - | 1/4 | 1 |
13-107182002-T-G | c.122+5189A>C | - | IntronicSNV | - | 1/4 | 1 |
13-107182138-T-C | c.122+5053A>G | - | IntronicSNV | - | 1/4 | 1 |
13-107182163-T-C | c.122+5028A>G | - | IntronicSNV | - | 1/4 | 1 |
13-107182185-A-C | c.122+5006T>G | - | IntronicSNV | - | 1/4 | 1 |
13-107182239-A-G | c.122+4952T>C | - | IntronicSNV | - | 1/4 | 1 |
13-107182378-A-G | c.122+4813T>C | - | IntronicSNV | - | 1/4 | 1 |
13-107182383-C-A | c.122+4808G>T | - | IntronicSNV | - | 1/4 | 1 |
13-107183056-T-G | c.122+4135A>C | - | IntronicSNV | - | 1/4 | 1 |
13-107183518-C-T | c.122+3673G>A | - | IntronicSNV | - | 1/4 | 1 |
13-107184293-A-T | c.122+2898T>A | - | IntronicSNV | - | 1/4 | 1 |
13-107184292-TA-T | c.122+2898del | - | IntronicDeletion | - | 1/4 | 1 |
13-107186983-A-G | c.122+208T>C | - | IntronicSNV | - | 1/4 | 1 |
13-107187066-T-G | c.122+125A>C | - | IntronicSNV | - | 1/4 | 1 |
13-107187193-G-A | c.120C>T | p.S40= | Synonymous | 1/5 | - | 1 |
13-107187194-G-T | c.119C>A | p.S40Y | Missense | 1/5 | - | 1 |
13-107187195-A-C | c.118T>G | p.S40A | Missense | 1/5 | - | 6 |
13-107187229-TATCGATTTGGAAATCGCAGTTCTGCATAAAACC-T | c.51_83del | p.M17_S27del | InFrameDeletion | 1/5 | - | 1 |
13-107187234-A-T | c.79T>A | p.S27T | Missense | 1/5 | - | 1 |
13-107187237-T-A | c.76A>T | p.K26* | Nonsense | 1/5 | - | 1 |
13-107187238-G-C | c.75C>G | p.S25= | Synonymous | 1/5 | - | 2 |
13-107187245-G-A | c.68C>T | p.A23V | Missense | 1/5 | - | 1 |
13-107187250-T-C | c.63A>G | p.R21= | Synonymous | 1/5 | - | 2 |
13-107187251-C-G | c.62G>C | p.R21T | Missense | 1/5 | - | 2 |
13-107187251-C-T | c.62G>A | p.R21K | Missense | 1/5 | - | 1 |
13-107187266-A-T | c.47T>A | p.L16* | Nonsense | 1/5 | - | 1 |
13-107187265-CA-C | c.47del | p.L16* | Frameshift | 1/5 | - | 1 |
13-107187272-C-A | c.41G>T | p.G14V | Missense | 1/5 | - | 1 |
13-107187281-T-C | c.32A>G | p.Y11C | Missense | 1/5 | - | 1 |
13-107187286-C-T | c.27G>A | p.W9* | Nonsense | 1/5 | - | 2 |
13-107187289-C-A | c.24G>T | p.V8= | Synonymous | 1/5 | - | 2 |
13-107187289-C-G | c.24G>C | p.V8= | Synonymous | 1/5 | - | 1 |
13-107187289-C-T | c.24G>A | p.V8= | Synonymous | 1/5 | - | 1 |
13-107187291-C-T | c.22G>A | p.V8M | Missense | 1/5 | - | 1 |
13-107187293-G-A | c.20C>T | p.S7F | Missense | 1/5 | - | 1 |
13-107187294-A-T | c.19T>A | p.S7T | Missense | 1/5 | - | 1 |
13-107187295-G-A | c.18C>T | p.D6= | Synonymous | 1/5 | - | 1 |
13-107187297-C-A | c.16G>T | p.D6Y | Missense | 1/5 | - | 3 |
13-107187298-C-T | c.15G>A | p.R5= | Synonymous | 1/5 | - | 1 |
13-107187306-C-T | c.7G>A | p.V3M | Missense | 1/5 | - | 1 |
13-107187311-A-G | c.2T>C | p.M1? | Missense | 1/5 | - | 1 |
13-107187315-C-G | c.-3G>C | - | 5-UTRSNV | 1/5 | - | 1 |
13-107187315-C-T | c.-3G>A | - | 5-UTRSNV | 1/5 | - | 1 |
13-107187345-G-A | c.-33C>T | - | 5-UTRSNV | 1/5 | - | 1 |
13-107187479-T-C | c.-167A>G | - | IntergenicSNV | 1/5 | - | 1 |
13-107187479-T-G | c.-167A>C | - | IntergenicSNV | 1/5 | - | 1 |
13-107187897-G-A | c.-585C>T | - | IntergenicSNV | 1/5 | - | 1 |
13-107187897-G-C | c.-585C>G | - | IntergenicSNV | 1/5 | - | 1 |