Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
15-58724217-G-A | c.-15G>A | - | 5-UTRSNV | 1/9 | - | 1 |
15-58724234-G-A | c.3G>A | p.M1? | Missense | 1/9 | - | 1 |
15-58724236-A-T | c.5A>T | p.D2V | Missense | 1/9 | - | 1 |
15-58724239-C-T | c.8C>T | p.T3I | Missense | 1/9 | - | 2 |
15-58724239-C-CA | c.10dup | p.S4Kfs*37 | Frameshift | 1/9 | - | 1 |
15-58724242-G-A | c.11G>A | p.S4N | Missense | 1/9 | - | 1 |
15-58724245-C-G | c.14C>G | p.P5R | Missense | 1/9 | - | 1 |
15-58724246-C-T | c.15C>T | p.P5= | Synonymous | 1/9 | - | 2 |
15-58724248-T-A | c.17T>A | p.L6Q | Missense | 1/9 | - | 1 |
15-58724248-T-C | c.17T>C | p.L6P | Missense | 1/9 | - | 1 |
15-58724255-C-G | c.24C>G | p.F8L | Missense | 1/9 | - | 2 |
15-58724265-T-C | c.34T>C | p.L12= | Synonymous | 1/9 | - | 1 |
15-58724271-T-G | c.40T>G | p.L14V | Missense | 1/9 | - | 1 |
15-58724272-T-C | c.41T>C | p.L14S | Missense | 1/9 | - | 1 |
15-58724279-C-T | c.48C>T | p.I16= | Synonymous | 1/9 | - | 1 |
15-58724280-T-G | c.49T>G | p.F17V | Missense | 1/9 | - | 1 |
15-58724282-TATCC-T | c.53_56del | p.I18Nfs*9 | Frameshift | 1/9 | - | 1 |
15-58724286-C-A | c.55C>A | p.Q19K | Missense | 1/9 | - | 1 |
15-58724286-C-T | c.55C>T | p.Q19* | Nonsense | 1/9 | - | 1 |
15-58724289-T-C | c.58T>C | p.S20P | Missense | 1/9 | - | 1 |
15-58724289-T-G | c.58T>G | p.S20A | Missense | 1/9 | - | 1 |
15-58724291-A-C | c.60A>C | p.S20= | Synonymous | 1/9 | - | 1 |
15-58724291-A-G | c.60A>G | p.S20= | Synonymous | 1/9 | - | 1 |
15-58724291-A-T | c.60A>T | p.S20= | Synonymous | 1/9 | - | 1 |
15-58724292-AG-CT | c.61_62inv | p.S21L | Missense | 1/9 | - | 2 |
15-58724292-A-C | c.61A>C | p.S21R | Missense | 1/9 | - | 1 |
15-58724294-T-A | c.63T>A | p.S21R | Missense | 1/9 | - | 1 |
15-58724294-T-C | c.63T>C | p.S21= | Synonymous | 1/9 | - | 1 |
15-58724294-T-G | c.63T>G | p.S21R | Missense | 1/9 | - | 1 |
15-58724295-G-A | c.64G>A | p.A22T | Missense | 1/9 | - | 1 |
15-58724295-GCC-AAG | c.64_66delinsAAG | p.A22K | Missense | 1/9 | - | 1 |
15-58724295-G-T | c.64G>T | p.A22S | Missense | 1/9 | - | 1 |
15-58724297-C-A | c.66C>A | p.A22= | Synonymous | 1/9 | - | 1 |
15-58724297-C-G | c.66C>G | p.A22= | Synonymous | 1/9 | - | 1 |
15-58724297-C-T | c.66C>T | p.A22= | Synonymous | 1/9 | - | 1 |
15-58724298-C-T | c.67C>T | p.L23F | Missense | 1/9 | - | 3 |
15-58724301-GGA-AGC | c.70_72delinsAGC | p.G24S | Missense | 1/9 | - | 1 |
15-58724309-C-A | c.78C>A | p.S26R | Missense | 1/9 | - | 1 |
15-58724309-C-G | c.78C>G | p.S26R | Missense | 1/9 | - | 1 |
15-58724316-C-G | c.85C>G | p.P29A | Missense | 1/9 | - | 3 |
15-58724319-G-C | c.88G>C | p.E30Q | Missense | 1/9 | - | 1 |
15-58724330-G-C | c.88+11G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58724371-C-T | c.88+52C>T | - | IntronicSNV | - | 1/8 | 11 |
15-58724376-G-C | c.88+57G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58724383-A-G | c.88+64A>G | - | IntronicSNV | - | 1/8 | 5 |
15-58724403-T-G | c.88+84T>G | - | IntronicSNV | - | 1/8 | 1 |
15-58724416-G-A | c.88+97G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724430-G-A | c.88+111G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724451-G-A | c.88+132G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724456-C-T | c.88+137C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58724464-C-G | c.88+145C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58724466-C-G | c.88+147C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58724475-G-A | c.88+156G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724496-T-A | c.88+177T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724519-G-A | c.88+200G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724524-A-G | c.88+205A>G | - | IntronicSNV | - | 1/8 | 7 |
15-58724523-TAA-T | c.88+207_88+208del | - | IntronicDeletion | - | 1/8 | 1 |
15-58724533-C-G | c.88+214C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58724555-G-C | c.88+236G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58724565-T-C | c.88+246T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58724569-G-A | c.88+250G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724706-G-A | c.88+387G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58724706-G-T | c.88+387G>T | - | IntronicSNV | - | 1/8 | 1 |
15-58724792-T-A | c.88+473T>A | - | IntronicSNV | - | 1/8 | 7 |
15-58724842-G-A | c.88+523G>A | - | IntronicSNV | - | 1/8 | 2 |
15-58725839-A-G | c.88+1520A>G | - | IntronicSNV | - | 1/8 | 2 |
15-58726463-G-A | c.88+2144G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58726463-G-C | c.88+2144G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58726744-G-C | c.88+2425G>C | - | IntronicSNV | - | 1/8 | 15 |
15-58726968-C-CACTGCTCCAAAGAGCAGCT | c.88+2649_88+2650insACTGCTCCAAAGAGCAGCT | - | IntronicInsertion | - | 1/8 | 1 |
15-58726968-C-CAGCT | c.88+2649_88+2650insAGCT | - | IntronicInsertion | - | 1/8 | 1 |
15-58727279-T-C | c.88+2960T>C | - | IntronicSNV | - | 1/8 | 2 |
15-58727325-A-G | c.88+3006A>G | - | IntronicSNV | - | 1/8 | 25 |
15-58728878-C-T | c.88+4559C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58728924-G-A | c.88+4605G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58729144-C-T | c.88+4825C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58729586-GA-G | c.88+5276del | - | IntronicDeletion | - | 1/8 | 1 |
15-58730498-C-G | c.88+6179C>G | - | IntronicSNV | - | 1/8 | 11 |
15-58730498-C-T | c.88+6179C>T | - | IntronicSNV | - | 1/8 | 11 |
15-58730571-T-C | c.88+6252T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58730639-C-G | c.88+6320C>G | - | IntronicSNV | - | 1/8 | 2 |
15-58730889-A-G | c.88+6570A>G | - | IntronicSNV | - | 1/8 | 2 |
15-58731127-A-T | c.88+6808A>T | - | IntronicSNV | - | 1/8 | 1 |
15-58731153-G-A | c.88+6834G>A | - | IntronicSNV | - | 1/8 | 21 |
15-58731153-G-C | c.88+6834G>C | - | IntronicSNV | - | 1/8 | 22 |
15-58731153-G-T | c.88+6834G>T | - | IntronicSNV | - | 1/8 | 21 |
15-58731191-C-A | c.88+6872C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58731200-C-T | c.88+6881C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58731567-A-G | c.88+7248A>G | - | IntronicSNV | - | 1/8 | 4 |
15-58732204-G-A | c.88+7885G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58732221-C-T | c.88+7902C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58732468-G-A | c.88+8149G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58734645-C-T | c.88+10326C>T | - | IntronicSNV | - | 1/8 | 2 |
15-58735005-A-G | c.88+10686A>G | - | IntronicSNV | - | 1/8 | 4 |
15-58736623-G-A | c.88+12304G>A | - | IntronicSNV | - | 1/8 | 2 |
15-58736623-G-C | c.88+12304G>C | - | IntronicSNV | - | 1/8 | 2 |
15-58736778-C-T | c.88+12459C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58737135-G-C | c.88+12816G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58737341-T-A | c.88+13022T>A | - | IntronicSNV | - | 1/8 | 6 |
15-58737341-T-G | c.88+13022T>G | - | IntronicSNV | - | 1/8 | 6 |
15-58737382-G-A | c.88+13063G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58737383-C-A | c.88+13064C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58737661-C-A | c.88+13342C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58738075-G-A | c.88+13756G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58738760-G-A | c.88+14441G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58740094-C-G | c.88+15775C>G | - | IntronicSNV | - | 1/8 | 2 |
15-58740094-C-T | c.88+15775C>T | - | IntronicSNV | - | 1/8 | 2 |
15-58740541-T-A | c.88+16222T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58740588-C-A | c.88+16269C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58740588-C-T | c.88+16269C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58741384-C-G | c.88+17065C>G | - | IntronicSNV | - | 1/8 | 2 |
15-58741384-C-T | c.88+17065C>T | - | IntronicSNV | - | 1/8 | 2 |
15-58741884-T-A | c.88+17565T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58741884-T-C | c.88+17565T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58742418-G-A | c.88+18099G>A | - | IntronicSNV | - | 1/8 | 9 |
15-58742731-T-G | c.88+18412T>G | - | IntronicSNV | - | 1/8 | 7 |
15-58743022-G-T | c.88+18703G>T | - | IntronicSNV | - | 1/8 | 1 |
15-58743709-C-T | c.88+19390C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58746830-T-C | c.88+22511T>C | - | IntronicSNV | - | 1/8 | 5 |
15-58748906-G-T | c.88+24587G>T | - | IntronicSNV | - | 1/8 | 2 |
15-58749155-T-A | c.88+24836T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58749155-T-C | c.88+24836T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58750024-C-G | c.88+25705C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58751201-T-A | c.88+26882T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58751877-T-A | c.88+27558T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58751877-T-G | c.88+27558T>G | - | IntronicSNV | - | 1/8 | 1 |
15-58752734-C-A | c.88+28415C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58752890-C-A | c.88+28571C>A | - | IntronicSNV | - | 1/8 | 2 |
15-58756149-C-G | c.88+31830C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58756149-C-T | c.88+31830C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58756173-C-T | c.88+31854C>T | - | IntronicSNV | - | 1/8 | 2 |
15-58757378-G-A | c.88+33059G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58757927-C-G | c.88+33608C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58758548-G-A | c.88+34229G>A | - | IntronicSNV | - | 1/8 | 2 |
15-58759459-G-A | c.88+35140G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58759459-G-C | c.88+35140G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58760975-C-A | c.88+36656C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58765183-T-A | c.88+40864T>A | - | IntronicSNV | - | 1/8 | 2 |
15-58765183-T-C | c.88+40864T>C | - | IntronicSNV | - | 1/8 | 2 |
15-58765183-T-G | c.88+40864T>G | - | IntronicSNV | - | 1/8 | 2 |
15-58765524-G-A | c.88+41205G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58767754-C-A | c.88+43435C>A | - | IntronicSNV | - | 1/8 | 5 |
15-58767754-C-G | c.88+43435C>G | - | IntronicSNV | - | 1/8 | 5 |
15-58769583-C-T | c.88+45264C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58771675-G-A | c.88+47356G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58774109-T-A | c.88+49790T>A | - | IntronicSNV | - | 1/8 | 2 |
15-58774109-T-C | c.88+49790T>C | - | IntronicSNV | - | 1/8 | 3 |
15-58778412-G-C | c.89-52120G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58779039-T-C | c.89-51493T>C | - | IntronicSNV | - | 1/8 | 3 |
15-58779641-C-A | c.89-50891C>A | - | IntronicSNV | - | 1/8 | 3 |
15-58779703-G-A | c.89-50829G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58780013-G-A | c.89-50519G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58782595-A-G | c.89-47937A>G | - | IntronicSNV | - | 1/8 | 2 |
15-58786959-G-A | c.89-43573G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58791354-T-C | c.89-39178T>C | - | IntronicSNV | - | 1/8 | 5 |
15-58795513-A-G | c.89-35019A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58796245-C-G | c.89-34287C>G | - | IntronicSNV | - | 1/8 | 2 |
15-58797499-C-T | c.89-33033C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58798706-A-G | c.89-31826A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58798813-T-A | c.89-31719T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58798813-T-C | c.89-31719T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58799754-A-G | c.89-30778A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58800766-T-C | c.89-29766T>C | - | IntronicSNV | - | 1/8 | 3 |
15-58801541-T-A | c.89-28991T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58801541-T-C | c.89-28991T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58801800-A-C | c.89-28732A>C | - | IntronicSNV | - | 1/8 | 1 |
15-58801800-A-G | c.89-28732A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58801800-A-T | c.89-28732A>T | - | IntronicSNV | - | 1/8 | 1 |
15-58801943-A-G | c.89-28589A>G | - | IntronicSNV | - | 1/8 | 6 |
15-58801943-A-T | c.89-28589A>T | - | IntronicSNV | - | 1/8 | 6 |
15-58804663-T-C | c.89-25869T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58804778-C-T | c.89-25754C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58808079-T-G | c.89-22453T>G | - | IntronicSNV | - | 1/8 | 3 |
15-58808174-G-A | c.89-22358G>A | - | IntronicSNV | - | 1/8 | 2 |
15-58808174-G-C | c.89-22358G>C | - | IntronicSNV | - | 1/8 | 2 |
15-58808578-C-T | c.89-21954C>T | - | IntronicSNV | - | 1/8 | 2 |
15-58809493-G-C | c.89-21039G>C | - | IntronicSNV | - | 1/8 | 1 |
15-58809493-G-T | c.89-21039G>T | - | IntronicSNV | - | 1/8 | 1 |
15-58811869-A-G | c.89-18663A>G | - | IntronicSNV | - | 1/8 | 2 |
15-58812083-C-A | c.89-18449C>A | - | IntronicSNV | - | 1/8 | 1 |
15-58812083-C-G | c.89-18449C>G | - | IntronicSNV | - | 1/8 | 1 |
15-58812083-C-T | c.89-18449C>T | - | IntronicSNV | - | 1/8 | 1 |
15-58812199-C-T | c.89-18333C>T | - | IntronicSNV | - | 1/8 | 3 |
15-58813213-A-G | c.89-17319A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58813213-A-T | c.89-17319A>T | - | IntronicSNV | - | 1/8 | 1 |
15-58813229-T-C | c.89-17303T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58813566-A-C | c.89-16966A>C | - | IntronicSNV | - | 1/8 | 1 |
15-58813566-A-T | c.89-16966A>T | - | IntronicSNV | - | 1/8 | 1 |
15-58813619-G-A | c.89-16913G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58815320-G-A | c.89-15212G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58818783-G-A | c.89-11749G>A | - | IntronicSNV | - | 1/8 | 4 |
15-58822697-G-A | c.89-7835G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58822697-G-T | c.89-7835G>T | - | IntronicSNV | - | 1/8 | 1 |
15-58822785-T-A | c.89-7747T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58822785-T-C | c.89-7747T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58824641-A-G | c.89-5891A>G | - | IntronicSNV | - | 1/8 | 2 |
15-58825713-T-A | c.89-4819T>A | - | IntronicSNV | - | 1/8 | 1 |
15-58825713-T-C | c.89-4819T>C | - | IntronicSNV | - | 1/8 | 1 |
15-58827870-A-G | c.89-2662A>G | - | IntronicSNV | - | 1/8 | 1 |
15-58828584-A-T | c.89-1948A>T | - | IntronicSNV | - | 1/8 | 1 |
15-58829215-A-T | c.89-1317A>T | - | IntronicSNV | - | 1/8 | 5 |
15-58830511-G-A | c.89-21G>A | - | IntronicSNV | - | 1/8 | 1 |
15-58830533-G-C | c.90G>C | p.E30D | Missense | 2/9 | - | 1 |
15-58830533-G-T | c.90G>T | p.E30D | Missense | 2/9 | - | 1 |
15-58830534-C-A | c.91C>A | p.P31T | Missense | 2/9 | - | 1 |
15-58830535-C-T | c.92C>T | p.P31L | Missense | 2/9 | - | 1 |
15-58830536-A-C | c.93A>C | p.P31= | Synonymous | 2/9 | - | 1 |
15-58830537-T-C | c.94T>C | p.F32L | Missense | 2/9 | - | 1 |
15-58830539-T-A | c.96T>A | p.F32L | Missense | 2/9 | - | 1 |
15-58830539-T-G | c.96T>G | p.F32L | Missense | 2/9 | - | 1 |
15-58830540-G-A | c.97G>A | p.G33R | Missense | 2/9 | - | 1 |
15-58830540-G-C | c.97G>C | p.G33R | Missense | 2/9 | - | 1 |
15-58830547-G-A | c.104G>A | p.R35K | Missense | 2/9 | - | 1 |
15-58830550-C-T | c.107C>T | p.A36V | Missense | 2/9 | - | 3 |
15-58830551-T-A | c.108T>A | p.A36= | Synonymous | 2/9 | - | 1 |
15-58830551-T-C | c.108T>C | p.A36= | Synonymous | 2/9 | - | 1 |
15-58830551-T-G | c.108T>G | p.A36= | Synonymous | 2/9 | - | 1 |
15-58830555-G-T | c.112G>T | p.A38S | Missense | 2/9 | - | 1 |
15-58830561-G-A | c.118G>A | p.E40K | Missense | 2/9 | - | 2 |
15-58830564-ACA-TGT | c.121_123inv | p.T41C | Missense | 2/9 | - | 1 |
15-58830574-C-T | c.131C>T | p.T44M | Missense | 2/9 | - | 3 |
15-58830575-G-A | c.132G>A | p.T44= | Synonymous | 2/9 | - | 5 |
15-58830577-T-A | c.134T>A | p.L45Q | Missense | 2/9 | - | 1 |
15-58830576-C-T | c.133C>T | p.L45= | Synonymous | 2/9 | - | 3 |
15-58830578-G-A | c.135G>A | p.L45= | Synonymous | 2/9 | - | 1 |
15-58830578-G-C | c.135G>C | p.L45= | Synonymous | 2/9 | - | 1 |
15-58830578-G-T | c.135G>T | p.L45= | Synonymous | 2/9 | - | 1 |
15-58830579-C-G | c.136C>G | p.H46D | Missense | 2/9 | - | 1 |
15-58830580-A-T | c.137A>T | p.H46L | Missense | 2/9 | - | 1 |
15-58830586-T-C | c.143T>C | p.M48T | Missense | 2/9 | - | 1 |
15-58830586-T-G | c.143T>G | p.M48R | Missense | 2/9 | - | 1 |
15-58830589-A-C | c.146A>C | p.K49T | Missense | 2/9 | - | 1 |
15-58830592-C-G | c.149C>G | p.T50S | Missense | 2/9 | - | 1 |
15-58830592-C-T | c.149C>T | p.T50I | Missense | 2/9 | - | 1 |
15-58830595-G-C | c.152G>C | p.R51T | Missense | 2/9 | - | 8 |
15-58830599-C-A | c.156C>A | p.F52L | Missense | 2/9 | - | 1 |
15-58830601-T-C | c.158T>C | p.L53P | Missense | 2/9 | - | 1 |
15-58830603-C-A | c.160C>A | p.L54I | Missense | 2/9 | - | 2 |
15-58830605-C-A | c.162C>A | p.L54= | Synonymous | 2/9 | - | 2 |
15-58830605-C-G | c.162C>G | p.L54= | Synonymous | 2/9 | - | 2 |
15-58830605-C-T | c.162C>T | p.L54= | Synonymous | 2/9 | - | 2 |
15-58830606-T-G | c.163T>G | p.F55V | Missense | 2/9 | - | 2 |
15-58830608-T-G | c.165T>G | p.F55L | Missense | 2/9 | - | 1 |
15-58830609-G-A | c.166G>A | p.G56R | Missense | 2/9 | - | 1 |
15-58830612-G-A | c.169G>A | p.E57K | Missense | 2/9 | - | 2 |
15-58830612-G-T | c.169G>T | p.E57* | Nonsense | 2/9 | - | 1 |
15-58830616-C-T | c.173C>T | p.T58I | Missense | 2/9 | - | 4 |
15-58830620-T-A | c.177T>A | p.N59K | Missense | 2/9 | - | 1 |
15-58830620-T-G | c.177T>G | p.N59K | Missense | 2/9 | - | 1 |
15-58830621-C-G | c.178C>G | p.Q60E | Missense | 2/9 | - | 1 |
15-58830623-G-C | c.180G>C | p.Q60H | Missense | 2/9 | - | 1 |
15-58830623-G-T | c.180G>T | p.Q60H | Missense | 2/9 | - | 2 |
15-58830624-G-T | c.181G>T | p.G61C | Missense | 2/9 | - | 1 |
15-58830626-C-T | c.183C>T | p.G61= | Synonymous | 2/9 | - | 3 |
15-58830630-C-G | c.187C>G | p.Q63E | Missense | 2/9 | - | 1 |
15-58830636-C-A | c.193C>A | p.R65= | Synonymous | 2/9 | - | 1 |
15-58830636-C-T | c.193C>T | p.R65* | Nonsense | 2/9 | - | 10 |
15-58830638-A-C | c.195A>C | p.R65= | Synonymous | 2/9 | - | 1 |
15-58830638-A-G | c.195A>G | p.R65= | Synonymous | 2/9 | - | 1 |
15-58830638-A-T | c.195A>T | p.R65= | Synonymous | 2/9 | - | 1 |
15-58830637-G-A | c.194G>A | p.R65Q | Missense | 2/9 | - | 4 |
15-58830639-A-G | c.196A>G | p.I66V | Missense | 2/9 | - | 2 |
15-58830645-C-G | c.202C>G | p.H68D | Missense | 2/9 | - | 2 |
15-58830645-C-T | c.202C>T | p.H68Y | Missense | 2/9 | - | 2 |
15-58830649-C-A | c.206C>A | p.P69Q | Missense | 2/9 | - | 2 |
15-58830649-C-T | c.206C>T | p.P69L | Missense | 2/9 | - | 7 |
15-58830650-G-A | c.207G>A | p.P69= | Synonymous | 2/9 | - | 2 |
15-58830650-G-C | c.207G>C | p.P69= | Synonymous | 2/9 | - | 1 |
15-58830650-G-T | c.207G>T | p.P69= | Synonymous | 2/9 | - | 1 |
15-58830651-G-T | c.208G>T | p.D70Y | Missense | 2/9 | - | 1 |
15-58830652-A-G | c.209A>G | p.D70G | Missense | 2/9 | - | 1 |
15-58830655-CG-TC | c.212_213delinsTC | p.T71I | Missense | 2/9 | - | 3 |
15-58830655-C-T | c.212C>T | p.T71M | Missense | 2/9 | - | 1 |
15-58830656-G-A | c.213G>A | p.T71= | Synonymous | 2/9 | - | 4 |
15-58830659-A-G | c.216A>G | p.L72= | Synonymous | 2/9 | - | 1 |
15-58830662-G-A | c.219G>A | p.Q73= | Synonymous | 2/9 | - | 2 |
15-58830662-G-C | c.219G>C | p.Q73H | Missense | 2/9 | - | 2 |
15-58830662-G-T | c.219G>T | p.Q73H | Missense | 2/9 | - | 3 |
15-58830668-C-T | c.225C>T | p.C75= | Synonymous | 2/9 | - | 2 |
15-58830669-G-A | c.226G>A | p.G76S | Missense | 2/9 | - | 3 |
15-58830669-G-T | c.226G>T | p.G76C | Missense | 2/9 | - | 1 |
15-58830670-G-A | c.227G>A | p.G76D | Missense | 2/9 | - | 1 |
15-58830670-G-C | c.227G>C | p.G76A | Missense | 2/9 | - | 1 |
15-58830672-T-C | c.229T>C | p.F77L | Missense | 2/9 | - | 1 |
15-58830674-C-A | c.231C>A | p.F77L | Missense | 2/9 | - | 1 |
15-58830674-C-G | c.231C>G | p.F77L | Missense | 2/9 | - | 1 |
15-58830678-T-A | c.235T>A | p.S79T | Missense | 2/9 | - | 1 |
15-58830681-T-C | c.238T>C | p.S80P | Missense | 2/9 | - | 1 |
15-58830682-C-T | c.239C>T | p.S80F | Missense | 2/9 | - | 2 |
15-58830683-C-A | c.240C>A | p.S80= | Synonymous | 2/9 | - | 1 |
15-58830683-C-G | c.240C>G | p.S80= | Synonymous | 2/9 | - | 1 |
15-58830683-C-T | c.240C>T | p.S80= | Synonymous | 2/9 | - | 1 |
15-58830681-T-TC | c.241dup | p.L81Pfs*121 | Frameshift | 2/9 | - | 1 |
15-58830684-C-A | c.241C>A | p.L81M | Missense | 2/9 | - | 4 |
15-58830693-G-C | c.250G>C | p.V84L | Missense | 2/9 | - | 2 |
15-58830693-GTG-ATC | c.250_252delinsATC | p.V84I | Missense | 2/9 | - | 1 |
15-58830694-T-C | c.251T>C | p.V84A | Missense | 2/9 | - | 1 |
15-58830698-G-A | c.255G>A | p.M85I | Missense | 2/9 | - | 1 |
15-58830699-A-C | c.256A>C | p.I86L | Missense | 2/9 | - | 1 |
15-58830699-A-T | c.256A>T | p.I86L | Missense | 2/9 | - | 1 |
15-58830706-A-G | c.263A>G | p.H88R | Missense | 2/9 | - | 1 |
15-58830707-C-A | c.264C>A | p.H88Q | Missense | 2/9 | - | 1 |
15-58830707-C-G | c.264C>G | p.H88Q | Missense | 2/9 | - | 1 |
15-58830707-C-T | c.264C>T | p.H88= | Synonymous | 2/9 | - | 5 |
15-58830708-G-A | c.265G>A | p.G89R | Missense | 2/9 | - | 2 |
15-58830708-G-C | c.265G>C | p.G89R | Missense | 2/9 | - | 1 |
15-58830709-G-A | c.266G>A | p.G89E | Missense | 2/9 | - | 1 |
15-58830712-G-A | c.269G>A | p.W90* | Nonsense | 2/9 | - | 1 |
15-58830715-C-T | c.272C>T | p.S91L | Missense | 2/9 | - | 1 |
15-58830716-G-A | c.273G>A | p.S91= | Synonymous | 2/9 | - | 1 |
15-58830732-A-G | c.273+16A>G | - | IntronicSNV | - | 2/8 | 1 |
15-58830775-T-C | c.273+59T>C | - | IntronicSNV | - | 2/8 | 1 |
15-58830786-T-C | c.273+70T>C | - | IntronicSNV | - | 2/8 | 1 |
15-58830846-G-A | c.273+130G>A | - | IntronicSNV | - | 2/8 | 1 |
15-58830939-T-G | c.273+223T>G | - | IntronicSNV | - | 2/8 | 1 |
15-58830966-C-T | c.273+250C>T | - | IntronicSNV | - | 2/8 | 1 |
15-58833633-T-G | c.274-351T>G | - | IntronicSNV | - | 2/8 | 1 |
15-58833703-G-A | c.274-281G>A | - | IntronicSNV | - | 2/8 | 2 |
15-58833703-G-C | c.274-281G>C | - | IntronicSNV | - | 2/8 | 2 |
15-58833742-T-C | c.274-242T>C | - | IntronicSNV | - | 2/8 | 1 |
15-58833786-A-G | c.274-198A>G | - | IntronicSNV | - | 2/8 | 1 |
15-58833938-G-A | c.274-46G>A | - | IntronicSNV | - | 2/8 | 5 |
15-58833989-C-T | c.279C>T | p.D93= | Synonymous | 3/9 | - | 2 |
15-58833990-G-A | c.280G>A | p.G94S | Missense | 3/9 | - | 3 |
15-58833990-G-T | c.280G>T | p.G94C | Missense | 3/9 | - | 1 |
15-58833991-G-A | c.281G>A | p.G94D | Missense | 3/9 | - | 1 |
15-58833992-C-A | c.282C>A | p.G94= | Synonymous | 3/9 | - | 1 |
15-58833992-C-G | c.282C>G | p.G94= | Synonymous | 3/9 | - | 1 |
15-58833992-C-T | c.282C>T | p.G94= | Synonymous | 3/9 | - | 2 |
15-58833993-G-A | c.283G>A | p.V95M | Missense | 3/9 | - | 36 |
15-58833993-G-T | c.283G>T | p.V95L | Missense | 3/9 | - | 13 |
15-58833999-G-A | c.289G>A | p.E97K | Missense | 3/9 | - | 1 |
15-58834000-A-G | c.290A>G | p.E97G | Missense | 3/9 | - | 1 |
15-58834005-T-TTC | c.295_296insTC | p.W99Ffs*10 | Frameshift | 3/9 | - | 1 |
15-58834015-AGATGGTGGCCGCGCT-A | c.308_322del | p.M103_L107del | InFrameDeletion | 3/9 | - | 1 |
15-58834020-G-A | c.310G>A | p.V104M | Missense | 3/9 | - | 1 |
15-58834023-G-A | c.313G>A | p.A105T | Missense | 3/9 | - | 1 |
15-58834024-C-T | c.314C>T | p.A105V | Missense | 3/9 | - | 3 |
15-58834025-C-G | c.315C>G | p.A105= | Synonymous | 3/9 | - | 2 |
15-58834026-G-A | c.316G>A | p.A106T | Missense | 3/9 | - | 3 |
15-58834027-C-T | c.317C>T | p.A106V | Missense | 3/9 | - | 5 |
15-58834036-C-T | c.326C>T | p.S109F | Missense | 3/9 | - | 1 |
15-58834038-C-T | c.328C>T | p.Q110* | Nonsense | 3/9 | - | 1 |
15-58834041-C-T | c.331C>T | p.P111S | Missense | 3/9 | - | 1 |
15-58834042-C-T | c.332C>T | p.P111L | Missense | 3/9 | - | 1 |
15-58834044-G-A | c.334G>A | p.A112T | Missense | 3/9 | - | 2 |
15-58834049-G-A | c.339G>A | p.Q113= | Synonymous | 3/9 | - | 1 |
15-58834050-C-A | c.340C>A | p.P114T | Missense | 3/9 | - | 1 |
15-58834051-C-T | c.341C>T | p.P114L | Missense | 3/9 | - | 1 |
15-58834054-T-C | c.344T>C | p.V115A | Missense | 3/9 | - | 3 |
15-58834058-C-A | c.348C>A | p.N116K | Missense | 3/9 | - | 1 |
15-58834058-C-G | c.348C>G | p.N116K | Missense | 3/9 | - | 1 |
15-58834059-G-A | c.349G>A | p.V117M | Missense | 3/9 | - | 1 |
15-58834068-G-A | c.358G>A | p.V120M | Missense | 3/9 | - | 1 |
15-58834071-G-A | c.361G>A | p.D121N | Missense | 3/9 | - | 2 |
15-58834071-G-C | c.361G>C | p.D121H | Missense | 3/9 | - | 1 |
15-58834075-G-A | c.365G>A | p.W122* | Nonsense | 3/9 | - | 2 |
15-58834076-G-A | c.366G>A | p.W122* | Nonsense | 3/9 | - | 1 |
15-58834077-A-C | c.367A>C | p.I123L | Missense | 3/9 | - | 1 |
15-58834080-A-C | c.370A>C | p.T124P | Missense | 3/9 | - | 1 |
15-58834083-C-G | c.373C>G | p.L125V | Missense | 3/9 | - | 1 |
15-58834086-G-C | c.376G>C | p.A126P | Missense | 3/9 | - | 1 |
15-58834086-G-T | c.376G>T | p.A126S | Missense | 3/9 | - | 1 |
15-58834087-C-A | c.377C>A | p.A126D | Missense | 3/9 | - | 1 |
15-58834089-C-T | c.379C>T | p.H127Y | Missense | 3/9 | - | 1 |
15-58834091-C-T | c.381C>T | p.H127= | Synonymous | 3/9 | - | 1 |
15-58834092-G-A | c.382G>A | p.D128N | Missense | 3/9 | - | 4 |
15-58834094-C-T | c.384C>T | p.D128= | Synonymous | 3/9 | - | 2 |
15-58834104-A-C | c.394A>C | p.I132L | Missense | 3/9 | - | 1 |
15-58834106-C-A | c.396C>A | p.I132= | Synonymous | 3/9 | - | 1 |
15-58834106-C-T | c.396C>T | p.I132= | Synonymous | 3/9 | - | 4 |
15-58834109-C-T | c.399C>T | p.A133= | Synonymous | 3/9 | - | 2 |
15-58834110-G-A | c.400G>A | p.V134I | Missense | 3/9 | - | 2 |
15-58834111-T-C | c.401T>C | p.V134A | Missense | 3/9 | - | 1 |
15-58834113-C-T | c.403C>T | p.R135C | Missense | 3/9 | - | 4 |
15-58834120-C-T | c.410C>T | p.T137I | Missense | 3/9 | - | 3 |
15-58834122-CGC-ATG | c.412_414delinsATG | p.R138M | Missense | 3/9 | - | 1 |
15-58834122-C-T | c.412C>T | p.R138C | Missense | 3/9 | - | 4 |
15-58834123-G-A | c.413G>A | p.R138H | Missense | 3/9 | - | 2 |
15-58834126-T-C | c.416T>C | p.L139P | Missense | 3/9 | - | 1 |
15-58834129-T-C | c.419T>C | p.V140A | Missense | 3/9 | - | 1 |
15-58834131-G-A | c.421G>A | p.G141S | Missense | 3/9 | - | 4 |
15-58834140-G-T | c.430G>T | p.V144F | Missense | 3/9 | - | 1 |
15-58834141-T-C | c.431T>C | p.V144A | Missense | 3/9 | - | 1 |
15-58834142-C-A | c.432C>A | p.V144= | Synonymous | 3/9 | - | 1 |
15-58834142-C-G | c.432C>G | p.V144= | Synonymous | 3/9 | - | 1 |
15-58834142-C-T | c.432C>T | p.V144= | Synonymous | 3/9 | - | 3 |
15-58834143-G-A | c.433G>A | p.A145T | Missense | 3/9 | - | 3 |
15-58834144-C-T | c.434C>T | p.A145V | Missense | 3/9 | - | 1 |
15-58834155-CGG-AGC | c.445_447delinsAGC | p.R149S | Missense | 3/9 | - | 1 |
15-58834155-C-T | c.445C>T | p.R149W | Missense | 3/9 | - | 6 |
15-58834156-G-A | c.446G>A | p.R149Q | Missense | 3/9 | - | 1 |
15-58834162-T-C | c.452T>C | p.L151P | Missense | 3/9 | - | 1 |
15-58834168-T-C | c.456+2T>C | - | IntronicSNV | - | 3/8 | 1 |
15-58834172-G-A | c.456+6G>A | - | IntronicSNV | - | 3/8 | 1 |
15-58834188-C-T | c.456+22C>T | - | IntronicSNV | - | 3/8 | 1 |
15-58834242-G-C | c.456+76G>C | - | IntronicSNV | - | 3/8 | 1 |
15-58834262-CAGG-C | c.456+99_456+101del | - | IntronicDeletion | - | 3/8 | 1 |
15-58834315-C-T | c.456+149C>T | - | IntronicSNV | - | 3/8 | 1 |
15-58834338-C-T | c.456+172C>T | - | IntronicSNV | - | 3/8 | 1 |
15-58834339-G-A | c.456+173G>A | - | IntronicSNV | - | 3/8 | 1 |
15-58834354-CCT-C | c.456+188_456+189del | - | IntronicDeletion | - | 3/8 | 1 |
15-58834375-T-C | c.456+209T>C | - | IntronicSNV | - | 3/8 | 5 |
15-58834391-A-G | c.456+225A>G | - | IntronicSNV | - | 3/8 | 3 |
15-58834405-G-T | c.456+239G>T | - | IntronicSNV | - | 3/8 | 1 |
15-58834539-A-C | c.457-194A>C | - | IntronicSNV | - | 3/8 | 2 |
15-58834539-A-G | c.457-194A>G | - | IntronicSNV | - | 3/8 | 2 |
15-58834733-G-T | c.457G>T | p.E153* | Nonsense | 4/9 | - | 2 |
15-58834737-C-A | c.461C>A | p.S154Y | Missense | 4/9 | - | 2 |
15-58834741-G-A | c.465G>A | p.V155= | Synonymous | 4/9 | - | 33 |
15-58834741-G-C | c.465G>C | p.V155= | Synonymous | 4/9 | - | 1 |
15-58834741-G-T | c.465G>T | p.V155= | Synonymous | 4/9 | - | 36 |
15-58834742-C-A | c.466C>A | p.Q156K | Missense | 4/9 | - | 1 |
15-58834746-T-A | c.470T>A | p.L157H | Missense | 4/9 | - | 1 |
15-58834751-C-T | c.475C>T | p.R159* | Nonsense | 4/9 | - | 4 |
15-58834752-G-A | c.476G>A | p.R159Q | Missense | 4/9 | - | 6 |
15-58834755-G-A | c.479G>A | p.S160N | Missense | 4/9 | - | 1 |
15-58834756-C-T | c.480C>T | p.S160= | Synonymous | 4/9 | - | 1 |
15-58834758-A-G | c.482A>G | p.H161R | Missense | 4/9 | - | 1 |
15-58834759-T-G | c.483T>G | p.H161Q | Missense | 4/9 | - | 1 |
15-58834766-C-T | c.490C>T | p.L164= | Synonymous | 4/9 | - | 1 |
15-58834769-A-G | c.493A>G | p.I165V | Missense | 4/9 | - | 1 |
15-58834770-T-C | c.494T>C | p.I165T | Missense | 4/9 | - | 1 |
15-58834770-T-G | c.494T>G | p.I165S | Missense | 4/9 | - | 1 |
15-58834772-G-T | c.496G>T | p.G166W | Missense | 4/9 | - | 1 |
15-58834774-G-A | c.498G>A | p.G166= | Synonymous | 4/9 | - | 2 |
15-58834774-G-C | c.498G>C | p.G166= | Synonymous | 4/9 | - | 1 |
15-58834774-G-T | c.498G>T | p.G166= | Synonymous | 4/9 | - | 3 |
15-58834775-T-C | c.499T>C | p.Y167H | Missense | 4/9 | - | 1 |
15-58834778-A-G | c.502A>G | p.S168G | Missense | 4/9 | - | 1 |
15-58834779-G-A | c.503G>A | p.S168N | Missense | 4/9 | - | 2 |
15-58834780-C-T | c.504C>T | p.S168= | Synonymous | 4/9 | - | 1 |
15-58834784-G-A | c.508G>A | p.G170S | Missense | 4/9 | - | 2 |
15-58834784-G-C | c.508G>C | p.G170R | Missense | 4/9 | - | 1 |
15-58834784-G-T | c.508G>T | p.G170C | Missense | 4/9 | - | 3 |
15-58834785-G-A | c.509G>A | p.G170D | Missense | 4/9 | - | 1 |
15-58834785-G-T | c.509G>T | p.G170V | Missense | 4/9 | - | 1 |
15-58834788-C-T | c.512C>T | p.A171V | Missense | 4/9 | - | 1 |
15-58834790-C-T | c.514C>T | p.H172Y | Missense | 4/9 | - | 1 |
15-58834792-C-T | c.516C>T | p.H172= | Synonymous | 4/9 | - | 3 |
15-58834793-G-A | c.517G>A | p.V173M | Missense | 4/9 | - | 3 |
15-58834800-G-T | c.524G>T | p.G175V | Missense | 4/9 | - | 1 |
15-58834801-A-C | c.525A>C | p.G175= | Synonymous | 4/9 | - | 1 |
15-58834801-A-G | c.525A>G | p.G175= | Synonymous | 4/9 | - | 2 |
15-58834801-A-T | c.525A>T | p.G175= | Synonymous | 4/9 | - | 1 |
15-58834802-T-C | c.526T>C | p.F176L | Missense | 4/9 | - | 1 |
15-58834804-T-A | c.528T>A | p.F176L | Missense | 4/9 | - | 1 |
15-58834804-T-G | c.528T>G | p.F176L | Missense | 4/9 | - | 1 |
15-58834806-C-T | c.530C>T | p.A177V | Missense | 4/9 | - | 2 |
15-58834805-GC-G | c.531del | p.G178Afs*53 | Frameshift | 4/9 | - | 1 |
15-58834807-C-A | c.531C>A | p.A177= | Synonymous | 4/9 | - | 1 |
15-58834807-C-G | c.531C>G | p.A177= | Synonymous | 4/9 | - | 1 |
15-58834807-C-T | c.531C>T | p.A177= | Synonymous | 4/9 | - | 2 |
15-58834808-G-A | c.532G>A | p.G178S | Missense | 4/9 | - | 8 |
15-58834811-A-G | c.535A>G | p.S179G | Missense | 4/9 | - | 1 |
15-58834814-TC-CT | c.538_539delinsCT | p.S180L | Missense | 4/9 | - | 1 |
15-58834817-A-C | c.541A>C | p.I181L | Missense | 4/9 | - | 1 |
15-58834817-A-G | c.541A>G | p.I181V | Missense | 4/9 | - | 1 |
15-58834817-CA-C | c.541del | p.I181Sfs*50 | Frameshift | 4/9 | - | 1 |
15-58834819-C-T | c.543C>T | p.I181= | Synonymous | 4/9 | - | 3 |
15-58834821-G-A | c.545G>A | p.G182D | Missense | 4/9 | - | 2 |
15-58834821-G-C | c.545G>C | p.G182A | Missense | 4/9 | - | 1 |
15-58834827-C-T | c.551C>T | p.T184M | Missense | 4/9 | - | 5 |
15-58834828-G-A | c.552G>A | p.T184= | Synonymous | 4/9 | - | 2 |
15-58834828-G-C | c.552G>C | p.T184= | Synonymous | 4/9 | - | 1 |
15-58834828-G-T | c.552G>T | p.T184= | Synonymous | 4/9 | - | 1 |
15-58834830-A-T | c.554A>T | p.H185L | Missense | 4/9 | - | 3 |
15-58834839-G-A | c.563G>A | p.G188E | Missense | 4/9 | - | 2 |
15-58834839-G-T | c.563G>T | p.G188V | Missense | 4/9 | - | 1 |
15-58834840-G-A | c.564G>A | p.G188= | Synonymous | 4/9 | - | 1 |
15-58834840-G-C | c.564G>C | p.G188= | Synonymous | 4/9 | - | 1 |
15-58834842-G-A | c.566G>A | p.R189K | Missense | 4/9 | - | 3 |
15-58834841-AGAATCACAG-A | c.567_574+1del | - | SpliceDonorDeletion | 4/9 | 4/8 | 1 |
15-58834844-A-G | c.568A>G | p.I190V | Missense | 4/9 | - | 2 |
15-58834875-A-G | c.574+25A>G | - | IntronicSNV | - | 4/8 | 1 |
15-58834891-T-C | c.574+41T>C | - | IntronicSNV | - | 4/8 | 1 |
15-58834929-C-T | c.574+79C>T | - | IntronicSNV | - | 4/8 | 2 |
15-58834989-C-T | c.574+139C>T | - | IntronicSNV | - | 4/8 | 1 |
15-58835003-T-C | c.574+153T>C | - | IntronicSNV | - | 4/8 | 1 |
15-58835097-TG-T | c.574+247del | - | IntronicDeletion | - | 4/8 | 1 |
15-58835317-C-A | c.574+467C>A | - | IntronicSNV | - | 4/8 | 1 |
15-58835317-C-T | c.574+467C>T | - | IntronicSNV | - | 4/8 | 1 |
15-58836308-C-G | c.574+1458C>G | - | IntronicSNV | - | 4/8 | 2 |
15-58836308-C-T | c.574+1458C>T | - | IntronicSNV | - | 4/8 | 2 |
15-58836938-G-A | c.575-1003G>A | - | IntronicSNV | - | 4/8 | 2 |
15-58837089-A-G | c.575-852A>G | - | IntronicSNV | - | 4/8 | 1 |
15-58837394-C-T | c.575-547C>T | - | IntronicSNV | - | 4/8 | 2 |
15-58837605-C-T | c.575-336C>T | - | IntronicSNV | - | 4/8 | 1 |
15-58837722-G-A | c.575-219G>A | - | IntronicSNV | - | 4/8 | 2 |
15-58837764-A-G | c.575-177A>G | - | IntronicSNV | - | 4/8 | 4 |
15-58837910-T-C | c.575-31T>C | - | IntronicSNV | - | 4/8 | 9 |
15-58837933-C-A | c.575-8C>A | - | IntronicSNV | - | 4/8 | 6 |
15-58837949-G-A | c.583G>A | p.A195T | Missense | 5/9 | - | 2 |
15-58837950-C-T | c.584C>T | p.A195V | Missense | 5/9 | - | 1 |
15-58837951-C-A | c.585C>A | p.A195= | Synonymous | 5/9 | - | 2 |
15-58837951-C-G | c.585C>G | p.A195= | Synonymous | 5/9 | - | 2 |
15-58837951-C-T | c.585C>T | p.A195= | Synonymous | 5/9 | - | 4 |
15-58837952-G-A | c.586G>A | p.A196T | Missense | 5/9 | - | 1 |
15-58837953-C-T | c.587C>T | p.A196V | Missense | 5/9 | - | 2 |
15-58837954-G-A | c.588G>A | p.A196= | Synonymous | 5/9 | - | 3 |
15-58837954-G-C | c.588G>C | p.A196= | Synonymous | 5/9 | - | 1 |
15-58837954-G-T | c.588G>T | p.A196= | Synonymous | 5/9 | - | 2 |
15-58837955-G-A | c.589G>A | p.G197R | Missense | 5/9 | - | 1 |
15-58837955-G-T | c.589G>T | p.G197* | Nonsense | 5/9 | - | 1 |
15-58837957-A-C | c.591A>C | p.G197= | Synonymous | 5/9 | - | 2 |
15-58837957-A-G | c.591A>G | p.G197= | Synonymous | 5/9 | - | 21 |
15-58837957-A-T | c.591A>T | p.G197= | Synonymous | 5/9 | - | 19 |
15-58837958-C-T | c.592C>T | p.P198S | Missense | 5/9 | - | 2 |
15-58837961-T-A | c.595T>A | p.L199M | Missense | 5/9 | - | 1 |
15-58837964-T-A | c.598T>A | p.F200I | Missense | 5/9 | - | 1 |
15-58837969-G-T | c.603G>T | p.E201D | Missense | 5/9 | - | 1 |
15-58837971-G-A | c.605G>A | p.G202E | Missense | 5/9 | - | 4 |
15-58837981-C-A | c.615C>A | p.P205= | Synonymous | 5/9 | - | 1 |
15-58837981-C-G | c.615C>G | p.P205= | Synonymous | 5/9 | - | 1 |
15-58837981-C-T | c.615C>T | p.P205= | Synonymous | 5/9 | - | 1 |
15-58837985-A-T | c.619A>T | p.N207Y | Missense | 5/9 | - | 1 |
15-58837986-A-G | c.620A>G | p.N207S | Missense | 5/9 | - | 1 |
15-58837988-C-A | c.622C>A | p.R208S | Missense | 5/9 | - | 2 |
15-58837988-C-T | c.622C>T | p.R208C | Missense | 5/9 | - | 3 |
15-58837989-G-A | c.623G>A | p.R208H | Missense | 5/9 | - | 7 |
15-58837994-T-A | c.628T>A | p.S210T | Missense | 5/9 | - | 2 |
15-58838000-G-C | c.634G>C | p.D212H | Missense | 5/9 | - | 3 |
15-58838003-G-T | c.637G>T | p.D213Y | Missense | 5/9 | - | 2 |
15-58838007-C-T | c.641C>T | p.A214V | Missense | 5/9 | - | 2 |
15-58838009-A-G | c.643A>G | p.N215D | Missense | 5/9 | - | 1 |
15-58838010-A-C | c.644A>C | p.N215T | Missense | 5/9 | - | 25 |
15-58838010-A-G | c.644A>G | p.N215S | Missense | 5/9 | - | 62 |
15-58838011-T-C | c.645T>C | p.N215= | Synonymous | 5/9 | - | 1 |
15-58838019-A-G | c.653A>G | p.D218G | Missense | 5/9 | - | 1 |
15-58838022-C-T | c.656C>T | p.A219V | Missense | 5/9 | - | 1 |
15-58838024-A-G | c.658A>G | p.I220V | Missense | 5/9 | - | 1 |
15-58838027-C-T | c.661C>T | p.H221Y | Missense | 5/9 | - | 2 |
15-58838028-A-G | c.662A>G | p.H221R | Missense | 5/9 | - | 1 |
15-58838031-CC-AG | c.665_666delinsAG | p.T222K | Missense | 5/9 | - | 1 |
15-58838037-C-T | c.671C>T | p.T224I | Missense | 5/9 | - | 1 |
15-58838038-C-A | c.672C>A | p.T224= | Synonymous | 5/9 | - | 24 |
15-58838038-C-G | c.672C>G | p.T224= | Synonymous | 5/9 | - | 29 |
15-58838038-C-T | c.672C>T | p.T224= | Synonymous | 5/9 | - | 2 |
15-58838039-C-T | c.673C>T | p.R225W | Missense | 5/9 | - | 2 |
15-58838040-G-A | c.674G>A | p.R225Q | Missense | 5/9 | - | 1 |
15-58838040-G-T | c.674G>T | p.R225L | Missense | 5/9 | - | 1 |
15-58838046-A-G | c.680A>G | p.H227R | Missense | 5/9 | - | 3 |
15-58838046-A-T | c.680A>T | p.H227L | Missense | 5/9 | - | 1 |
15-58838048-A-G | c.682A>G | p.M228V | Missense | 5/9 | - | 1 |
15-58838051-G-A | c.685G>A | p.G229S | Missense | 5/9 | - | 2 |
15-58838059-C-T | c.693C>T | p.S231= | Synonymous | 5/9 | - | 4 |
15-58838060-G-A | c.694G>A | p.V232M | Missense | 5/9 | - | 2 |
15-58838060-G-C | c.694G>C | p.V232L | Missense | 5/9 | - | 3 |
15-58838060-G-T | c.694G>T | p.V232L | Missense | 5/9 | - | 3 |
15-58838066-A-G | c.700A>G | p.I234V | Missense | 5/9 | - | 1 |
15-58838067-T-C | c.701T>C | p.I234T | Missense | 5/9 | - | 2 |
15-58838068-C-A | c.702C>A | p.I234= | Synonymous | 5/9 | - | 1 |
15-58838074-G-C | c.708G>C | p.Q236H | Missense | 5/9 | - | 1 |
15-58838075-C-T | c.709C>T | p.P237S | Missense | 5/9 | - | 1 |
15-58838076-C-A | c.710C>A | p.P237H | Missense | 5/9 | - | 2 |
15-58838079-T-C | c.713T>C | p.I238T | Missense | 5/9 | - | 3 |
15-58838081-G-A | c.715G>A | p.G239R | Missense | 5/9 | - | 3 |
15-58838081-G-C | c.715G>C | p.G239R | Missense | 5/9 | - | 1 |
15-58838084-C-T | c.718C>T | p.H240Y | Missense | 5/9 | - | 1 |
15-58838086-C-T | c.720C>T | p.H240= | Synonymous | 5/9 | - | 1 |
15-58838088-A-T | c.722A>T | p.Y241F | Missense | 5/9 | - | 1 |
15-58838092-C-G | c.726C>G | p.D242E | Missense | 5/9 | - | 1 |
15-58838096-T-C | c.730T>C | p.Y244H | Missense | 5/9 | - | 1 |
15-58838097-A-G | c.731A>G | p.Y244C | Missense | 5/9 | - | 2 |
15-58838099-C-T | c.733C>T | p.P245S | Missense | 5/9 | - | 4 |
15-58838103-A-ACG | c.738_739dup | p.G247Afs*12 | Frameshift | 5/9 | - | 3 |
15-58838104-C-T | c.738C>T | p.N246= | Synonymous | 5/9 | - | 2 |
15-58838105-G-A | c.739G>A | p.G247R | Missense | 5/9 | - | 6 |
15-58838105-G-C | c.739G>C | p.G247R | Missense | 5/9 | - | 1 |
15-58838106-G-A | c.740G>A | p.G247E | Missense | 5/9 | - | 3 |
15-58838113-C-T | c.747C>T | p.S249= | Synonymous | 5/9 | - | 2 |
15-58838114-T-C | c.748T>C | p.F250L | Missense | 5/9 | - | 1 |
15-58838116-C-T | c.750C>T | p.F250= | Synonymous | 5/9 | - | 1 |
15-58838121-C-T | c.755C>T | p.P252L | Missense | 5/9 | - | 1 |
15-58838123-G-A | c.757G>A | p.G253S | Missense | 5/9 | - | 1 |
15-58838123-G-T | c.757G>T | p.G253C | Missense | 5/9 | - | 1 |
15-58838124-G-A | c.758G>A | p.G253D | Missense | 5/9 | - | 1 |
15-58838127-G-A | c.761G>A | p.C254Y | Missense | 5/9 | - | 1 |
15-58838131-C-T | c.765C>T | p.H255= | Synonymous | 5/9 | - | 1 |
15-58838135-CTA-TTT | c.769_771delinsTTT | p.L257F | Missense | 5/9 | - | 1 |
15-58838138-G-C | c.772G>C | p.E258Q | Missense | 5/9 | - | 1 |
15-58838141-C-T | c.775C>T | p.L259F | Missense | 5/9 | - | 1 |
15-58838142-T-C | c.776T>C | p.L259P | Missense | 5/9 | - | 1 |
15-58838144-T-C | c.778T>C | p.Y260H | Missense | 5/9 | - | 1 |
15-58838145-A-T | c.779A>T | p.Y260F | Missense | 5/9 | - | 1 |
15-58838147-A-T | c.781A>T | p.R261* | Nonsense | 5/9 | - | 1 |
15-58838152-T-C | c.786T>C | p.H262= | Synonymous | 5/9 | - | 1 |
15-58838153-A-G | c.787A>G | p.I263V | Missense | 5/9 | - | 2 |
15-58838155-T-C | c.789T>C | p.I263= | Synonymous | 5/9 | - | 1 |
15-58838156-G-A | c.790G>A | p.A264T | Missense | 5/9 | - | 1 |
15-58838157-C-T | c.791C>T | p.A264V | Missense | 5/9 | - | 3 |
15-58838159-C-T | c.793C>T | p.Q265* | Nonsense | 5/9 | - | 2 |
15-58838160-A-G | c.794A>G | p.Q265R | Missense | 5/9 | - | 1 |
15-58838164-C-T | c.798C>T | p.H266= | Synonymous | 5/9 | - | 4 |
15-58838165-G-A | c.799G>A | p.G267S | Missense | 5/9 | - | 1 |
15-58838165-G-T | c.799G>T | p.G267C | Missense | 5/9 | - | 1 |
15-58838174-G-A | c.808G>A | p.A270T | Missense | 5/9 | - | 1 |
15-58838178-A-G | c.808+4A>G | - | IntronicSNV | - | 5/8 | 1 |
15-58838200-G-A | c.808+26G>A | - | IntronicSNV | - | 5/8 | 1 |
15-58838204-C-T | c.808+30C>T | - | IntronicSNV | - | 5/8 | 1 |
15-58838239-G-A | c.808+65G>A | - | IntronicSNV | - | 5/8 | 1 |
15-58838247-C-G | c.808+73C>G | - | IntronicSNV | - | 5/8 | 1 |
15-58838255-C-T | c.808+81C>T | - | IntronicSNV | - | 5/8 | 1 |
15-58838334-G-A | c.808+160G>A | - | IntronicSNV | - | 5/8 | 1 |
15-58838374-G-T | c.808+200G>T | - | IntronicSNV | - | 5/8 | 1 |
15-58838393-G-A | c.808+219G>A | - | IntronicSNV | - | 5/8 | 1 |
15-58838408-A-C | c.808+234A>C | - | IntronicSNV | - | 5/8 | 1 |
15-58838428-T-C | c.808+254T>C | - | IntronicSNV | - | 5/8 | 1 |
15-58838440-T-C | c.808+266T>C | - | IntronicSNV | - | 5/8 | 2 |
15-58839272-T-G | c.808+1098T>G | - | IntronicSNV | - | 5/8 | 1 |
15-58839298-C-T | c.808+1124C>T | - | IntronicSNV | - | 5/8 | 1 |
15-58839337-G-A | c.808+1163G>A | - | IntronicSNV | - | 5/8 | 2 |
15-58839345-A-C | c.808+1171A>C | - | IntronicSNV | - | 5/8 | 1 |
15-58839879-C-CTTGTT | c.809-646_809-642dup | - | IntronicInsertion | - | 5/8 | 1 |
15-58840039-A-G | c.809-490A>G | - | IntronicSNV | - | 5/8 | 2 |
15-58840099-G-A | c.809-430G>A | - | IntronicSNV | - | 5/8 | 1 |
15-58840450-A-C | c.809-79A>C | - | IntronicSNV | - | 5/8 | 6 |
15-58840531-A-G | c.811A>G | p.I271V | Missense | 6/9 | - | 1 |
15-58840535-C-T | c.815C>T | p.T272I | Missense | 6/9 | - | 2 |
15-58840537-C-A | c.817C>A | p.Q273K | Missense | 6/9 | - | 2 |
15-58840549-T-C | c.829T>C | p.C277R | Missense | 6/9 | - | 2 |
15-58840549-T-G | c.829T>G | p.C277G | Missense | 6/9 | - | 1 |
15-58840551-C-A | c.831C>A | p.C277* | Nonsense | 6/9 | - | 2 |
15-58840557-C-T | c.837C>T | p.H279= | Synonymous | 6/9 | - | 5 |
15-58840560-G-A | c.840G>A | p.E280= | Synonymous | 6/9 | - | 1 |
15-58840561-C-T | c.841C>T | p.R281* | Nonsense | 6/9 | - | 2 |
15-58840562-G-A | c.842G>A | p.R281Q | Missense | 6/9 | - | 6 |
15-58840562-G-C | c.842G>C | p.R281P | Missense | 6/9 | - | 2 |
15-58840564-TC-GG | c.844_845delinsGG | p.S282G | Missense | 6/9 | - | 1 |
15-58840565-C-A | c.845C>A | p.S282* | Nonsense | 6/9 | - | 1 |
15-58840565-C-T | c.845C>T | p.S282L | Missense | 6/9 | - | 5 |
15-58840566-G-A | c.846G>A | p.S282= | Synonymous | 6/9 | - | 4 |
15-58840566-G-C | c.846G>C | p.S282= | Synonymous | 6/9 | - | 2 |
15-58840566-G-T | c.846G>T | p.S282= | Synonymous | 6/9 | - | 3 |
15-58840567-G-A | c.847G>A | p.V283M | Missense | 6/9 | - | 5 |
15-58840569-G-C | c.849G>C | p.V283= | Synonymous | 6/9 | - | 1 |
15-58840576-T-C | c.856T>C | p.F286L | Missense | 6/9 | - | 1 |
15-58840578-C-A | c.858C>A | p.F286L | Missense | 6/9 | - | 1 |
15-58840578-C-G | c.858C>G | p.F286L | Missense | 6/9 | - | 1 |
15-58840581-C-A | c.861C>A | p.I287= | Synonymous | 6/9 | - | 1 |
15-58840581-C-T | c.861C>T | p.I287= | Synonymous | 6/9 | - | 1 |
15-58840582-G-A | c.862G>A | p.D288N | Missense | 6/9 | - | 3 |
15-58840584-C-T | c.864C>T | p.D288= | Synonymous | 6/9 | - | 1 |
15-58840586-C-T | c.866C>T | p.S289F | Missense | 6/9 | - | 17 |
15-58840587-C-T | c.867C>T | p.S289= | Synonymous | 6/9 | - | 2 |
15-58840594-C-T | c.874C>T | p.H292Y | Missense | 6/9 | - | 1 |
15-58840598-C-T | c.878C>T | p.A293V | Missense | 6/9 | - | 3 |
15-58840604-C-T | c.884C>T | p.T295M | Missense | 6/9 | - | 1 |
15-58840605-G-A | c.885G>A | p.T295= | Synonymous | 6/9 | - | 2 |
15-58840605-G-C | c.885G>C | p.T295= | Synonymous | 6/9 | - | 2 |
15-58840605-G-T | c.885G>T | p.T295= | Synonymous | 6/9 | - | 2 |
15-58840607-A-G | c.887A>G | p.Q296R | Missense | 6/9 | - | 1 |
15-58840613-T-G | c.893T>G | p.M298R | Missense | 6/9 | - | 1 |
15-58840615-G-A | c.895G>A | p.A299T | Missense | 6/9 | - | 2 |
15-58840621-C-T | c.901C>T | p.P301S | Missense | 6/9 | - | 3 |
15-58840622-C-A | c.902C>A | p.P301Q | Missense | 6/9 | - | 2 |
15-58840622-C-T | c.902C>T | p.P301L | Missense | 6/9 | - | 1 |
15-58840623-G-A | c.903G>A | p.P301= | Synonymous | 6/9 | - | 3 |
15-58840624-T-G | c.904T>G | p.C302G | Missense | 6/9 | - | 1 |
15-58840626-T-G | c.906T>G | p.C302W | Missense | 6/9 | - | 1 |
15-58840628-G-A | c.908G>A | p.G303D | Missense | 6/9 | - | 1 |
15-58840628-G-T | c.908G>T | p.G303V | Missense | 6/9 | - | 1 |
15-58840632-C-T | c.912C>T | p.D304= | Synonymous | 6/9 | - | 1 |
15-58840634-T-G | c.914T>G | p.M305R | Missense | 6/9 | - | 1 |
15-58840647-C-T | c.927C>T | p.S309= | Synonymous | 6/9 | - | 1 |
15-58840648-C-A | c.928C>A | p.Q310K | Missense | 6/9 | - | 1 |
15-58840649-A-G | c.929A>G | p.Q310R | Missense | 6/9 | - | 1 |
15-58840657-T-C | c.937T>C | p.C313R | Missense | 6/9 | - | 1 |
15-58840664-G-A | c.944G>A | p.S315N | Missense | 6/9 | - | 2 |
15-58840667-G-T | c.947G>T | p.C316F | Missense | 6/9 | - | 1 |
15-58840669-A-G | c.949A>G | p.K317E | Missense | 6/9 | - | 1 |
15-58840674-G-A | c.954G>A | p.K318= | Synonymous | 6/9 | - | 2 |
15-58840675-G-A | c.955G>A | p.G319S | Missense | 6/9 | - | 1 |
15-58840677-C-T | c.957C>T | p.G319= | Synonymous | 6/9 | - | 1 |
15-58840678-C-A | c.958C>A | p.R320S | Missense | 6/9 | - | 1 |
15-58840678-C-T | c.958C>T | p.R320C | Missense | 6/9 | - | 1 |
15-58840679-G-T | c.959G>T | p.R320L | Missense | 6/9 | - | 2 |
15-58840680-C-A | c.960C>A | p.R320= | Synonymous | 6/9 | - | 1 |
15-58840688-C-T | c.968C>T | p.T323M | Missense | 6/9 | - | 5 |
15-58840690-C-A | c.970C>A | p.L324M | Missense | 6/9 | - | 1 |
15-58840701-C-T | c.981C>T | p.H327= | Synonymous | 6/9 | - | 4 |
15-58840702-G-A | c.982G>A | p.V328I | Missense | 6/9 | - | 5 |
15-58840705-CGC-TGA | c.985_987delinsTGA | p.R329* | Nonsense | 6/9 | - | 1 |
15-58840705-C-T | c.985C>T | p.R329C | Missense | 6/9 | - | 2 |
15-58840706-G-A | c.986G>A | p.R329H | Missense | 6/9 | - | 6 |
15-58840714-C-T | c.994C>T | p.P332S | Missense | 6/9 | - | 1 |
15-58840717-C-A | c.997C>A | p.R333= | Synonymous | 6/9 | - | 1 |
15-58840717-C-T | c.997C>T | p.R333W | Missense | 6/9 | - | 1 |
15-58840718-G-A | c.998G>A | p.R333Q | Missense | 6/9 | - | 5 |
15-58840721-G-A | c.1001G>A | p.S334N | Missense | 6/9 | - | 1 |
15-58840724-A-G | c.1004A>G | p.K335R | Missense | 6/9 | - | 3 |
15-58840740-C-T | c.1020C>T | p.F340= | Synonymous | 6/9 | - | 1 |
15-58840743-C-T | c.1023C>T | p.L341= | Synonymous | 6/9 | - | 1 |
15-58840744-G-A | c.1024G>A | p.V342I | Missense | 6/9 | - | 3 |
15-58840744-G-C | c.1024G>C | p.V342L | Missense | 6/9 | - | 1 |
15-58840749-G-A | c.1029G>A | p.T343= | Synonymous | 6/9 | - | 5 |
15-58840750-C-T | c.1030C>T | p.R344* | Nonsense | 6/9 | - | 1 |
15-58840751-G-A | c.1031G>A | p.R344Q | Missense | 6/9 | - | 6 |
15-58840771-G-A | c.1051G>A | p.V351I | Missense | 6/9 | - | 2 |
15-58840773-T-A | c.1051+2T>A | - | IntronicSNV | - | 6/8 | 1 |
15-58840807-G-T | c.1051+36G>T | - | IntronicSNV | - | 6/8 | 1 |
15-58840849-T-C | c.1051+78T>C | - | IntronicSNV | - | 6/8 | 1 |
15-58840882-G-C | c.1051+111G>C | - | IntronicSNV | - | 6/8 | 4 |
15-58840922-A-T | c.1051+151A>T | - | IntronicSNV | - | 6/8 | 2 |
15-58840926-A-C | c.1051+155A>C | - | IntronicSNV | - | 6/8 | 1 |
15-58840930-T-C | c.1051+159T>C | - | IntronicSNV | - | 6/8 | 1 |
15-58840962-C-T | c.1051+191C>T | - | IntronicSNV | - | 6/8 | 1 |
15-58840972-T-G | c.1051+201T>G | - | IntronicSNV | - | 6/8 | 1 |
15-58840978-G-A | c.1051+207G>A | - | IntronicSNV | - | 6/8 | 1 |
15-58840990-C-T | c.1051+219C>T | - | IntronicSNV | - | 6/8 | 1 |
15-58841736-C-G | c.1051+965C>G | - | IntronicSNV | - | 6/8 | 1 |
15-58842883-A-C | c.1051+2112A>C | - | IntronicSNV | - | 6/8 | 1 |
15-58842883-A-G | c.1051+2112A>G | - | IntronicSNV | - | 6/8 | 1 |
15-58843129-G-C | c.1051+2358G>C | - | IntronicSNV | - | 6/8 | 1 |
15-58844214-C-T | c.1051+3443C>T | - | IntronicSNV | - | 6/8 | 1 |
15-58846150-G-T | c.1051+5379G>T | - | IntronicSNV | - | 6/8 | 1 |
15-58847263-T-C | c.1052-5800T>C | - | IntronicSNV | - | 6/8 | 1 |
15-58847372-C-G | c.1052-5691C>G | - | IntronicSNV | - | 6/8 | 1 |
15-58849387-C-A | c.1052-3676C>A | - | IntronicSNV | - | 6/8 | 1 |
15-58849387-C-T | c.1052-3676C>T | - | IntronicSNV | - | 6/8 | 1 |
15-58849875-C-T | c.1052-3188C>T | - | IntronicSNV | - | 6/8 | 1 |
15-58852914-C-A | c.1052-149C>A | - | IntronicSNV | - | 6/8 | 2 |
15-58852914-C-G | c.1052-149C>G | - | IntronicSNV | - | 6/8 | 2 |
15-58852914-C-T | c.1052-149C>T | - | IntronicSNV | - | 6/8 | 2 |
15-58852922-A-C | c.1052-141A>C | - | IntronicSNV | - | 6/8 | 3 |
15-58852922-A-T | c.1052-141A>T | - | IntronicSNV | - | 6/8 | 3 |
15-58853075-A-G | c.1064A>G | p.Q355R | Missense | 7/9 | - | 5 |
15-58853077-T-C | c.1066T>C | p.F356L | Missense | 7/9 | - | 6 |
15-58853079-C-G | c.1068C>G | p.F356L | Missense | 7/9 | - | 6 |
15-58853079-C-A | c.1068C>A | p.F356L | Missense | 7/9 | - | 55 |
15-58853079-C-T | c.1068C>T | p.F356= | Synonymous | 7/9 | - | 14 |
15-58853081-A-C | c.1070A>C | p.K357T | Missense | 7/9 | - | 1 |
15-58853089-T-C | c.1078T>C | p.F360L | Missense | 7/9 | - | 1 |
15-58853089-T-G | c.1078T>G | p.F360V | Missense | 7/9 | - | 1 |
15-58853091-C-A | c.1080C>A | p.F360L | Missense | 7/9 | - | 1 |
15-58853091-C-G | c.1080C>G | p.F360L | Missense | 7/9 | - | 1 |
15-58853094-C-G | c.1083C>G | p.I361M | Missense | 7/9 | - | 1 |
15-58853096-A-G | c.1085A>G | p.N362S | Missense | 7/9 | - | 1 |
15-58853097-C-A | c.1086C>A | p.N362K | Missense | 7/9 | - | 1 |
15-58853097-C-T | c.1086C>T | p.N362= | Synonymous | 7/9 | - | 1 |
15-58853098-C-A | c.1087C>A | p.Q363K | Missense | 7/9 | - | 1 |
15-58853100-A-T | c.1089A>T | p.Q363H | Missense | 7/9 | - | 1 |
15-58853108-C-A | c.1097C>A | p.T366K | Missense | 7/9 | - | 2 |
15-58853108-C-G | c.1097C>G | p.T366R | Missense | 7/9 | - | 1 |
15-58853109-A-C | c.1098A>C | p.T366= | Synonymous | 7/9 | - | 29 |
15-58853109-A-G | c.1098A>G | p.T366= | Synonymous | 7/9 | - | 30 |
15-58853109-A-T | c.1098A>T | p.T366= | Synonymous | 7/9 | - | 21 |
15-58853111-C-T | c.1100C>T | p.P367L | Missense | 7/9 | - | 1 |
15-58853114-T-A | c.1103T>A | p.I368K | Missense | 7/9 | - | 1 |
15-58853120-C-A | c.1109C>A | p.T370K | Missense | 7/9 | - | 1 |
15-58853123-CT-GG | c.1112_1113delinsGG | p.T371R | Missense | 7/9 | - | 1 |
15-58853134-T-A | c.1123T>A | p.S375T | Missense | 7/9 | - | 1 |
15-58853135-C-T | c.1124C>T | p.S375L | Missense | 7/9 | - | 1 |
15-58853140-C-T | c.1129C>T | p.L377F | Missense | 7/9 | - | 1 |
15-58853142-C-A | c.1131C>A | p.L377= | Synonymous | 7/9 | - | 1 |
15-58853142-C-G | c.1131C>G | p.L377= | Synonymous | 7/9 | - | 1 |
15-58853142-C-T | c.1131C>T | p.L377= | Synonymous | 7/9 | - | 1 |
15-58853143-G-A | c.1132G>A | p.G378R | Missense | 7/9 | - | 3 |
15-58853143-GGA-TGT | c.1132_1134delinsTGT | p.G378C | Missense | 7/9 | - | 1 |
15-58853158-A-G | c.1147A>G | p.M383V | Missense | 7/9 | - | 1 |
15-58853160-G-A | c.1149G>A | p.M383I | Missense | 7/9 | - | 1 |
15-58853164-A-G | c.1153A>G | p.K385E | Missense | 7/9 | - | 1 |
15-58853166-A-T | c.1155A>T | p.K385N | Missense | 7/9 | - | 2 |
15-58853170-C-T | c.1159C>T | p.P387S | Missense | 7/9 | - | 1 |
15-58853171-C-A | c.1160C>A | p.P387H | Missense | 7/9 | - | 1 |
15-58853173-A-G | c.1162A>G | p.I388V | Missense | 7/9 | - | 1 |
15-58853173-A-T | c.1162A>T | p.I388F | Missense | 7/9 | - | 1 |
15-58853177-C-A | c.1166C>A | p.T389N | Missense | 7/9 | - | 1 |
15-58853211-T-C | c.1169+31T>C | - | IntronicSNV | - | 7/8 | 8 |
15-58853216-C-T | c.1169+36C>T | - | IntronicSNV | - | 7/8 | 1 |
15-58853212-GAC-G | c.1169+37_1169+38del | - | IntronicDeletion | - | 7/8 | 4 |
15-58853218-C-A | c.1169+38C>A | - | IntronicSNV | - | 7/8 | 5 |
15-58853218-C-T | c.1169+38C>T | - | IntronicSNV | - | 7/8 | 9 |
15-58853292-G-A | c.1169+112G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853305-A-G | c.1169+125A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58853307-C-G | c.1169+127C>G | - | IntronicSNV | - | 7/8 | 9 |
15-58853330-A-G | c.1169+150A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58853350-G-A | c.1169+170G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853350-G-T | c.1169+170G>T | - | IntronicSNV | - | 7/8 | 1 |
15-58853363-ACC-A | c.1169+183_1169+184del | - | IntronicDeletion | - | 7/8 | 1 |
15-58853363-C-T | c.1169+183C>T | - | IntronicSNV | - | 7/8 | 8 |
15-58853364-C-T | c.1169+184C>T | - | IntronicSNV | - | 7/8 | 1 |
15-58853365-G-A | c.1169+185G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853365-G-C | c.1169+185G>C | - | IntronicSNV | - | 7/8 | 2 |
15-58853373-G-A | c.1169+193G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853376-T-A | c.1169+196T>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853419-G-C | c.1169+239G>C | - | IntronicSNV | - | 7/8 | 1 |
15-58853424-GGT-G | c.1169+244_1169+245del | - | IntronicDeletion | - | 7/8 | 1 |
15-58853425-T-C | c.1169+245T>C | - | IntronicSNV | - | 7/8 | 5 |
15-58853623-A-G | c.1169+443A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58853631-G-T | c.1169+451G>T | - | IntronicSNV | - | 7/8 | 1 |
15-58853636-T-TA | c.1169+457dup | - | IntronicInsertion | - | 7/8 | 1 |
15-58853724-T-A | c.1169+544T>A | - | IntronicSNV | - | 7/8 | 1 |
15-58853784-T-C | c.1169+604T>C | - | IntronicSNV | - | 7/8 | 1 |
15-58854066-G-A | c.1169+886G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58854123-G-A | c.1169+943G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58854218-G-A | c.1169+1038G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58854439-C-T | c.1169+1259C>T | - | IntronicSNV | - | 7/8 | 1 |
15-58854506-T-C | c.1170-1198T>C | - | IntronicSNV | - | 7/8 | 1 |
15-58854587-A-G | c.1170-1117A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58854587-A-T | c.1170-1117A>T | - | IntronicSNV | - | 7/8 | 1 |
15-58854606-G-A | c.1170-1098G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58854606-G-C | c.1170-1098G>C | - | IntronicSNV | - | 7/8 | 1 |
15-58854753-G-A | c.1170-951G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58854966-A-G | c.1170-738A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58854974-C-T | c.1170-730C>T | - | IntronicSNV | - | 7/8 | 1 |
15-58855128-G-A | c.1170-576G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58855169-G-A | c.1170-535G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58855169-G-T | c.1170-535G>T | - | IntronicSNV | - | 7/8 | 1 |
15-58855368-G-A | c.1170-336G>A | - | IntronicSNV | - | 7/8 | 2 |
15-58855371-G-A | c.1170-333G>A | - | IntronicSNV | - | 7/8 | 1 |
15-58855371-G-C | c.1170-333G>C | - | IntronicSNV | - | 7/8 | 1 |
15-58855464-C-G | c.1170-240C>G | - | IntronicSNV | - | 7/8 | 1 |
15-58855480-A-G | c.1170-224A>G | - | IntronicSNV | - | 7/8 | 2 |
15-58855480-A-T | c.1170-224A>T | - | IntronicSNV | - | 7/8 | 2 |
15-58855510-A-G | c.1170-194A>G | - | IntronicSNV | - | 7/8 | 1 |
15-58855560-C-A | c.1170-144C>A | - | IntronicSNV | - | 7/8 | 1 |
15-58855704-G-A | c.1170G>A | p.L390= | Synonymous | 8/9 | - | 4 |
15-58855705-G-A | c.1171G>A | p.G391S | Missense | 8/9 | - | 3 |
15-58855707-C-A | c.1173C>A | p.G391= | Synonymous | 8/9 | - | 1 |
15-58855707-C-G | c.1173C>G | p.G391= | Synonymous | 8/9 | - | 1 |
15-58855707-C-T | c.1173C>T | p.G391= | Synonymous | 8/9 | - | 1 |
15-58855711-G-A | c.1177G>A | p.G393R | Missense | 8/9 | - | 4 |
15-58855712-G-A | c.1178G>A | p.G393E | Missense | 8/9 | - | 2 |
15-58855714-A-G | c.1180A>G | p.I394V | Missense | 8/9 | - | 1 |
15-58855721-G-A | c.1187G>A | p.S396N | Missense | 8/9 | - | 1 |
15-58855721-G-C | c.1187G>C | p.S396T | Missense | 8/9 | - | 1 |
15-58855726-A-T | c.1192A>T | p.K398* | Nonsense | 8/9 | - | 1 |
15-58855731-G-A | c.1197G>A | p.T399= | Synonymous | 8/9 | - | 1 |
15-58855731-G-T | c.1197G>T | p.T399= | Synonymous | 8/9 | - | 2 |
15-58855736-C-A | c.1202C>A | p.S401Y | Missense | 8/9 | - | 1 |
15-58855737-C-A | c.1203C>A | p.S401= | Synonymous | 8/9 | - | 1 |
15-58855737-C-G | c.1203C>G | p.S401= | Synonymous | 8/9 | - | 1 |
15-58855737-C-T | c.1203C>T | p.S401= | Synonymous | 8/9 | - | 5 |
15-58855745-T-C | c.1211T>C | p.I404T | Missense | 8/9 | - | 2 |
15-58855748-C-T | c.1214C>T | p.T405M | Missense | 8/9 | - | 29 |
15-58855749-G-T | c.1215G>T | p.T405= | Synonymous | 8/9 | - | 1 |
15-58855753-G-A | c.1219G>A | p.D407N | Missense | 8/9 | - | 1 |
15-58855754-A-T | c.1220A>T | p.D407V | Missense | 8/9 | - | 1 |
15-58855755-T-C | c.1221T>C | p.D407= | Synonymous | 8/9 | - | 1 |
15-58855756-G-A | c.1222G>A | p.V408M | Missense | 8/9 | - | 2 |
15-58855759-G-C | c.1225G>C | p.D409H | Missense | 8/9 | - | 2 |
15-58855760-A-C | c.1226A>C | p.D409A | Missense | 8/9 | - | 8 |
15-58855760-A-G | c.1226A>G | p.D409G | Missense | 8/9 | - | 1 |
15-58855764-C-T | c.1230C>T | p.I410= | Synonymous | 8/9 | - | 2 |
15-58855765-G-A | c.1231G>A | p.G411S | Missense | 8/9 | - | 4 |
15-58855765-G-C | c.1231G>C | p.G411R | Missense | 8/9 | - | 10 |
15-58855766-G-A | c.1232G>A | p.G411D | Missense | 8/9 | - | 4 |
15-58855766-G-T | c.1232G>T | p.G411V | Missense | 8/9 | - | 1 |
15-58855767-C-T | c.1233C>T | p.G411= | Synonymous | 8/9 | - | 2 |
15-58855768-G-A | c.1234G>A | p.E412K | Missense | 8/9 | - | 2 |
15-58855768-G-C | c.1234G>C | p.E412Q | Missense | 8/9 | - | 1 |
15-58855768-G-T | c.1234G>T | p.E412* | Nonsense | 8/9 | - | 2 |
15-58855770-G-T | c.1236G>T | p.E412D | Missense | 8/9 | - | 1 |
15-58855772-T-C | c.1238T>C | p.L413P | Missense | 8/9 | - | 3 |
15-58855771-C-T | c.1237C>T | p.L413= | Synonymous | 8/9 | - | 1 |
15-58855773-G-A | c.1239G>A | p.L413= | Synonymous | 8/9 | - | 1 |
15-58855773-G-C | c.1239G>C | p.L413= | Synonymous | 8/9 | - | 1 |
15-58855773-G-T | c.1239G>T | p.L413= | Synonymous | 8/9 | - | 1 |
15-58855777-A-G | c.1243A>G | p.M415V | Missense | 8/9 | - | 1 |
15-58855778-T-C | c.1244T>C | p.M415T | Missense | 8/9 | - | 1 |
15-58855780-A-T | c.1246A>T | p.I416F | Missense | 8/9 | - | 1 |
15-58855785-G-C | c.1251G>C | p.K417N | Missense | 8/9 | - | 6 |
15-58855785-G-T | c.1251G>T | p.K417N | Missense | 8/9 | - | 3 |
15-58855790-A-G | c.1256A>G | p.K419R | Missense | 8/9 | - | 1 |
15-58855791-G-A | c.1257G>A | p.K419= | Synonymous | 8/9 | - | 1 |
15-58855795-G-A | c.1261G>A | p.E421K | Missense | 8/9 | - | 1 |
15-58855801-A-T | c.1267A>T | p.S423C | Missense | 8/9 | - | 1 |
15-58855804-G-A | c.1270G>A | p.A424T | Missense | 8/9 | - | 1 |
15-58855799-ACAGTG-A | c.1271_1275del | p.A424Vfs*48 | Frameshift | 8/9 | - | 2 |
15-58855807-G-C | c.1273G>C | p.V425L | Missense | 8/9 | - | 1 |
15-58855808-T-C | c.1274T>C | p.V425A | Missense | 8/9 | - | 1 |
15-58855808-T-G | c.1274T>G | p.V425G | Missense | 8/9 | - | 1 |
15-58855814-C-A | c.1280C>A | p.A427D | Missense | 8/9 | - | 1 |
15-58855814-C-T | c.1280C>T | p.A427V | Missense | 8/9 | - | 3 |
15-58855817-A-C | c.1283A>C | p.N428T | Missense | 8/9 | - | 1 |
15-58855824-G-A | c.1290G>A | p.W430* | Nonsense | 8/9 | - | 1 |
15-58855829-C-G | c.1295C>G | p.T432R | Missense | 8/9 | - | 4 |
15-58855829-C-T | c.1295C>T | p.T432M | Missense | 8/9 | - | 1 |
15-58855830-G-A | c.1296G>A | p.T432= | Synonymous | 8/9 | - | 1 |
15-58855831-G-A | c.1297G>A | p.V433I | Missense | 8/9 | - | 4 |
15-58855833-C-T | c.1299C>T | p.V433= | Synonymous | 8/9 | - | 1 |
15-58855834-C-T | c.1300C>T | p.Q434* | Nonsense | 8/9 | - | 1 |
15-58855848-A-G | c.1314A>G | p.P438= | Synonymous | 8/9 | - | 3 |
15-58855849-T-C | c.1315T>C | p.W439R | Missense | 8/9 | - | 1 |
15-58855851-G-C | c.1317G>C | p.W439C | Missense | 8/9 | - | 1 |
15-58855851-G-T | c.1317G>T | p.W439C | Missense | 8/9 | - | 1 |
15-58855853-G-A | c.1319G>A | p.S440N | Missense | 8/9 | - | 2 |
15-58855859-G-C | c.1325G>C | p.G442A | Missense | 8/9 | - | 1 |
15-58855860-G-A | c.1326G>A | p.G442= | Synonymous | 8/9 | - | 1 |
15-58855861-C-T | c.1327C>T | p.P443S | Missense | 8/9 | - | 2 |
15-58855862-C-A | c.1328C>A | p.P443Q | Missense | 8/9 | - | 1 |
15-58855862-C-G | c.1328C>G | p.P443R | Missense | 8/9 | - | 1 |
15-58855862-C-T | c.1328C>T | p.P443L | Missense | 8/9 | - | 1 |
15-58855864-C-T | c.1330C>T | p.R444C | Missense | 8/9 | - | 6 |
15-58855871-C-T | c.1337C>T | p.S446L | Missense | 8/9 | - | 1 |
15-58855874-G-A | c.1340G>A | p.G447D | Missense | 8/9 | - | 1 |
15-58855875-C-T | c.1341C>T | p.G447= | Synonymous | 8/9 | - | 2 |
15-58855876-C-G | c.1342C>G | p.L448V | Missense | 8/9 | - | 1 |
15-58855876-C-T | c.1342C>T | p.L448F | Missense | 8/9 | - | 4 |
15-58855879-G-A | c.1345G>A | p.V449I | Missense | 8/9 | - | 4 |
15-58855879-G-T | c.1345G>T | p.V449F | Missense | 8/9 | - | 1 |
15-58855882-C-T | c.1348C>T | p.L450= | Synonymous | 8/9 | - | 1 |
15-58855890-G-A | c.1356G>A | p.T452= | Synonymous | 8/9 | - | 2 |
15-58855895-G-T | c.1361G>T | p.R454I | Missense | 8/9 | - | 1 |
15-58855898-T-C | c.1364T>C | p.V455A | Missense | 8/9 | - | 1 |
15-58855904-C-T | c.1370C>T | p.A457V | Missense | 8/9 | - | 1 |
15-58855906-G-T | c.1372G>T | p.G458* | Nonsense | 8/9 | - | 1 |
15-58855909-G-A | c.1375G>A | p.E459K | Missense | 8/9 | - | 1 |
15-58855909-G-T | c.1375G>T | p.E459* | Nonsense | 8/9 | - | 1 |
15-58855917-G-A | c.1383G>A | p.Q461= | Synonymous | 8/9 | - | 1 |
15-58855918-C-T | c.1384C>T | p.Q462* | Nonsense | 8/9 | - | 1 |
15-58855920-A-AC | c.1386_1387insC | p.R463Qfs*11 | SpliceDonorInsertion | 8/9 | - | 1 |
15-58855920-A-AG | c.1386_1387insG | p.R463Efs*11 | SpliceDonorInsertion | 8/9 | - | 1 |
15-58855920-A-AT | c.1386_1387insT | p.R463* | SpliceDonorInsertion | 8/9 | - | 1 |
15-58855918-C-CA | c.1387dup | p.R463Kfs*11 | SpliceDonorInsertion | 8/9 | - | 1 |
15-58855935-T-G | c.1388+13T>G | - | IntronicSNV | - | 8/8 | 1 |
15-58855950-C-T | c.1388+28C>T | - | IntronicSNV | - | 8/8 | 2 |
15-58856021-A-G | c.1388+99A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58856033-T-C | c.1388+111T>C | - | IntronicSNV | - | 8/8 | 7 |
15-58856072-A-G | c.1388+150A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58856086-C-A | c.1388+164C>A | - | IntronicSNV | - | 8/8 | 1 |
15-58856086-C-T | c.1388+164C>T | - | IntronicSNV | - | 8/8 | 3 |
15-58856193-T-C | c.1388+271T>C | - | IntronicSNV | - | 8/8 | 1 |
15-58856199-G-T | c.1388+277G>T | - | IntronicSNV | - | 8/8 | 1 |
15-58856995-A-G | c.1388+1073A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58857183-T-A | c.1388+1261T>A | - | IntronicSNV | - | 8/8 | 3 |
15-58857183-T-G | c.1388+1261T>G | - | IntronicSNV | - | 8/8 | 4 |
15-58857230-G-C | c.1388+1308G>C | - | IntronicSNV | - | 8/8 | 4 |
15-58857255-A-G | c.1388+1333A>G | - | IntronicSNV | - | 8/8 | 7 |
15-58857312-AT-A | c.1388+1394del | - | IntronicDeletion | - | 8/8 | 1 |
15-58857366-G-A | c.1388+1444G>A | - | IntronicSNV | - | 8/8 | 1 |
15-58857378-A-G | c.1388+1456A>G | - | IntronicSNV | - | 8/8 | 11 |
15-58857395-A-G | c.1388+1473A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58857438-C-G | c.1388+1516C>G | - | IntronicSNV | - | 8/8 | 1 |
15-58857446-A-G | c.1388+1524A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58857514-A-G | c.1388+1592A>G | - | IntronicSNV | - | 8/8 | 1 |
15-58857945-A-G | c.1388+2023A>G | - | IntronicSNV | - | 8/8 | 2 |
15-58857945-A-T | c.1388+2023A>T | - | IntronicSNV | - | 8/8 | 2 |
15-58859395-G-A | c.1389-1520G>A | - | IntronicSNV | - | 8/8 | 1 |
15-58859415-T-A | c.1389-1500T>A | - | IntronicSNV | - | 8/8 | 1 |
15-58859415-T-G | c.1389-1500T>G | - | IntronicSNV | - | 8/8 | 1 |
15-58860702-T-A | c.1389-213T>A | - | IntronicSNV | - | 8/8 | 1 |
15-58860918-G-A | c.1392G>A | p.M464I | Missense | 9/9 | - | 1 |
15-58860926-G-T | c.1400G>T | p.C467F | Missense | 9/9 | - | 1 |
15-58860927-T-A | c.1401T>A | p.C467* | Nonsense | 9/9 | - | 1 |
15-58860935-A-C | c.1409A>C | p.N470T | Missense | 9/9 | - | 1 |
15-58860937-ACA-TGT | c.1411_1413inv | p.T471C | Missense | 9/9 | - | 1 |
15-58860938-C-T | c.1412C>T | p.T471I | Missense | 9/9 | - | 1 |
15-58860940-G-A | c.1414G>A | p.D472N | Missense | 9/9 | - | 1 |
15-58860941-A-T | c.1415A>T | p.D472V | Missense | 9/9 | - | 2 |
15-58860946-C-G | c.1420C>G | p.L474V | Missense | 9/9 | - | 1 |
15-58860947-T-C | c.1421T>C | p.L474P | Missense | 9/9 | - | 1 |
15-58860955-CGC-TGG | c.1429_1431delinsTGG | p.R477W | Missense | 9/9 | - | 1 |
15-58860955-C-T | c.1429C>T | p.R477C | Missense | 9/9 | - | 1 |
15-58860956-G-A | c.1430G>A | p.R477H | Missense | 9/9 | - | 4 |
15-58860962-C-G | c.1436C>G | p.T479S | Missense | 9/9 | - | 1 |
15-58860963-C-A | c.1437C>A | p.T479= | Synonymous | 9/9 | - | 26 |
15-58860963-C-G | c.1437C>G | p.T479= | Synonymous | 9/9 | - | 24 |
15-58860963-C-T | c.1437C>T | p.T479= | Synonymous | 9/9 | - | 3 |
15-58860978-C-T | c.1452C>T | p.F484= | Synonymous | 9/9 | - | 2 |
15-58860983-A-C | c.1457A>C | p.K486T | Missense | 9/9 | - | 1 |
15-58860988-G-A | c.1462G>A | p.E488K | Missense | 9/9 | - | 1 |
15-58860992-T-A | c.1466T>A | p.I489K | Missense | 9/9 | - | 1 |
15-58860996-G-A | c.1470G>A | p.K490= | Synonymous | 9/9 | - | 1 |
15-58861003-A-G | c.1477A>G | p.T493A | Missense | 9/9 | - | 2 |
15-58861007-C-A | c.1481C>A | p.S494* | Nonsense | 9/9 | - | 1 |
15-58861007-C-G | c.1481C>G | p.S494* | Nonsense | 9/9 | - | 2 |
15-58861010-A-G | c.1484A>G | p.K495R | Missense | 9/9 | - | 1 |
15-58861012-CG-AA | c.1486_1487delinsAA | p.R496K | Missense | 9/9 | - | 1 |
15-58861012-C-T | c.1486C>T | p.R496* | Nonsense | 9/9 | - | 2 |
15-58861013-G-A | c.1487G>A | p.R496Q | Missense | 9/9 | - | 1 |
15-58861017-G-A | c.1491G>A | p.K497= | Synonymous | 9/9 | - | 1 |
15-58861022-G-T | c.1496G>T | p.R499I | Missense | 9/9 | - | 1 |