Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
22-44319752-C-G | c.-40C>G | - | 5-UTRSNV | 1/9 | - | 1 |
22-44319822-TCC-GAG | c.31_33delinsGAG | p.Ser11Glu | Missense | 1/9 | - | 1 |
22-44319822-TC-GA | c.31_32inv | p.Ser11Asp | Missense | 1/9 | - | 1 |
22-44319822-T-G | c.31T>G | p.Ser11Ala | Missense | 1/9 | - | 3 |
22-44319823-C-G | c.32C>G | p.Ser11Cys | Missense | 1/9 | - | 2 |
22-44319837-G-C | c.46G>C | p.Gly16Arg | Missense | 1/9 | - | 1 |
22-44319847-G-C | c.56G>C | p.Gly19Ala | Missense | 1/9 | - | 1 |
22-44319873-TGC-GAG | c.82_84delinsGAG | p.Cys28Glu | Missense | 1/9 | - | 1 |
22-44319896-C-A | c.105C>A | p.His35Gln | Missense | 1/9 | - | 1 |
22-44319896-C-G | c.105C>G | p.His35Gln | Missense | 1/9 | - | 1 |
22-44319930-T-G | c.139T>G | p.Ser47Ala | Missense | 1/9 | - | 16 |
22-44319934-CC-AG | c.143_144delinsAG | p.Ala48Glu | Missense | 1/9 | - | 1 |
22-44321149-A-G | c.187+1171A>G | - | IntronicSNV | - | 1/8 | 1 |
22-44322910-C-T | c.283C>T | p.Arg95* | Nonsense | 2/9 | - | 1 |
22-44322922-T-A | c.295T>A | p.Cys99Ser | Missense | 2/9 | - | 6 |
22-44322922-T-C | c.295T>C | p.Cys99Arg | Missense | 2/9 | - | 6 |
22-44322922-T-G | c.295T>G | p.Cys99Gly | Missense | 2/9 | - | 7 |
22-44322943-G-A | c.316G>A | p.Val106Ile | Missense | 2/9 | - | 1 |
22-44322970-G-T | c.343G>T | p.Gly115Cys | Missense | 2/9 | - | 6 |
22-44323070-C-T | c.420+23C>T | - | IntronicSNV | - | 2/8 | 1 |
22-44323074-G-A | c.420+27G>A | - | IntronicSNV | - | 2/8 | 3 |
22-44323219-A-C | c.420+172A>C | - | IntronicSNV | - | 2/8 | 2 |
22-44323219-A-G | c.420+172A>G | - | IntronicSNV | - | 2/8 | 2 |
22-44323597-C-T | c.420+550C>T | - | IntronicSNV | - | 2/8 | 1 |
22-44323955-T-A | c.421-749T>A | - | IntronicSNV | - | 2/8 | 8 |
22-44323955-T-C | c.421-749T>C | - | IntronicSNV | - | 2/8 | 8 |
22-44323955-T-G | c.421-749T>G | - | IntronicSNV | - | 2/8 | 8 |
22-44324104-C-T | c.421-600C>T | - | IntronicSNV | - | 2/8 | 2 |
22-44324171-C-T | c.421-533C>T | - | IntronicSNV | - | 2/8 | 1 |
22-44324181-G-A | c.421-523G>A | - | IntronicSNV | - | 2/8 | 2 |
22-44324676-A-G | c.421-28A>G | - | IntronicSNV | - | 2/8 | 9 |
22-44324727-C-A | c.444C>A | p.Ile148Ile | Synonymous | 3/9 | - | 6 |
22-44324727-C-G | c.444C>G | p.Ile148Met | Missense | 3/9 | - | 895 |
22-44324727-C-T | c.444C>T | p.Ile148Ile | Synonymous | 3/9 | - | 6 |
22-44324730-C-A | c.447C>A | p.Pro149Pro | Synonymous | 3/9 | - | 1 |
22-44324730-C-G | c.447C>G | p.Pro149Pro | Synonymous | 3/9 | - | 1 |
22-44324730-C-T | c.447C>T | p.Pro149Pro | Synonymous | 3/9 | - | 28 |
22-44324743-C-T | c.460C>T | p.Leu154Phe | Missense | 3/9 | - | 1 |
22-44324767-G-A | c.484G>A | p.Val162Met | Missense | 3/9 | - | 1 |
22-44324769-G-A | c.486G>A | p.Val162Val | Synonymous | 3/9 | - | 1 |
22-44324769-G-C | c.486G>C | p.Val162Val | Synonymous | 3/9 | - | 1 |
22-44324769-G-T | c.486G>T | p.Val162Val | Synonymous | 3/9 | - | 1 |
22-44324855-G-A | c.486+86G>A | - | IntronicSNV | - | 3/8 | 9 |
22-44325516-G-A | c.486+747G>A | - | IntronicSNV | - | 3/8 | 2 |
22-44325516-G-T | c.486+747G>T | - | IntronicSNV | - | 3/8 | 2 |
22-44325565-C-T | c.486+796C>T | - | IntronicSNV | - | 3/8 | 2 |
22-44325631-C-T | c.486+862C>T | - | IntronicSNV | - | 3/8 | 2 |
22-44325855-C-A | c.486+1086C>A | - | IntronicSNV | - | 3/8 | 3 |
22-44325996-G-A | c.486+1227G>A | - | IntronicSNV | - | 3/8 | 12 |
22-44325996-G-C | c.486+1227G>C | - | IntronicSNV | - | 3/8 | 12 |
22-44325996-G-T | c.486+1227G>T | - | IntronicSNV | - | 3/8 | 12 |
22-44326272-T-C | c.486+1503T>C | - | IntronicSNV | - | 3/8 | 2 |
22-44326700-C-T | c.486+1931C>T | - | IntronicSNV | - | 3/8 | 3 |
22-44327075-C-T | c.487-1683C>T | - | IntronicSNV | - | 3/8 | 1 |
22-44327179-G-A | c.487-1579G>A | - | IntronicSNV | - | 3/8 | 2 |
22-44327192-A-G | c.487-1566A>G | - | IntronicSNV | - | 3/8 | 2 |
22-44327273-A-G | c.487-1485A>G | - | IntronicSNV | - | 3/8 | 2 |
22-44328043-T-C | c.487-715T>C | - | IntronicSNV | - | 3/8 | 8 |
22-44328688-G-C | c.487-70G>C | - | IntronicSNV | - | 3/8 | 1 |
22-44328688-G-T | c.487-70G>T | - | IntronicSNV | - | 3/8 | 1 |
22-44328730-G-A | c.487-28G>A | - | IntronicSNV | - | 3/8 | 14 |
22-44328832-C-G | c.561C>G | p.Phe187Leu | Missense | 4/9 | - | 1 |
22-44328832-C-T | c.561C>T | p.Phe187Phe | Synonymous | 4/9 | - | 1 |
22-44328899-CTC-TGG | c.628_630delinsTGG | p.Leu210Trp | Missense | 4/9 | - | 1 |
22-44328908-C-G | c.637C>G | p.Arg213Gly | Missense | 4/9 | - | 1 |
22-44328911-C-T | c.640C>T | p.Leu214Phe | Missense | 4/9 | - | 1 |
22-44328930-A-G | c.659A>G | p.Tyr220Cys | Missense | 4/9 | - | 2 |
22-44328951-T-C | c.680T>C | p.Val227Ala | Missense | 4/9 | - | 5 |
22-44329078-C-A | c.696+111C>A | - | IntronicSNV | - | 4/8 | 7 |
22-44329078-C-T | c.696+111C>T | - | IntronicSNV | - | 4/8 | 7 |
22-44329275-G-A | c.696+308G>A | - | IntronicSNV | - | 4/8 | 2 |
22-44329275-G-T | c.696+308G>T | - | IntronicSNV | - | 4/8 | 2 |
22-44330031-C-T | c.697-455C>T | - | IntronicSNV | - | 4/8 | 3 |
22-44330128-T-C | c.697-358T>C | - | IntronicSNV | - | 4/8 | 4 |
22-44330128-T-G | c.697-358T>G | - | IntronicSNV | - | 4/8 | 4 |
22-44330274-G-A | c.697-212G>A | - | IntronicSNV | - | 4/8 | 1 |
22-44330481-C-A | c.697-5C>A | - | IntronicSNV | - | 4/8 | 1 |
22-44331060-G-A | c.757+514G>A | - | IntronicSNV | - | 5/8 | 1 |
22-44331060-G-C | c.757+514G>C | - | IntronicSNV | - | 5/8 | 1 |
22-44331513-C-G | c.757+967C>G | - | IntronicSNV | - | 5/8 | 2 |
22-44331778-C-A | c.758-1153C>A | - | IntronicSNV | - | 5/8 | 2 |
22-44331778-C-G | c.758-1153C>G | - | IntronicSNV | - | 5/8 | 2 |
22-44331778-C-T | c.758-1153C>T | - | IntronicSNV | - | 5/8 | 2 |
22-44331815-C-G | c.758-1116C>G | - | IntronicSNV | - | 5/8 | 2 |
22-44331943-G-A | c.758-988G>A | - | IntronicSNV | - | 5/8 | 5 |
22-44332477-T-C | c.758-454T>C | - | IntronicSNV | - | 5/8 | 2 |
22-44332493-T-C | c.758-438T>C | - | IntronicSNV | - | 5/8 | 2 |
22-44332570-G-A | c.758-361G>A | - | IntronicSNV | - | 5/8 | 48 |
22-44332653-C-G | c.758-278C>G | - | IntronicSNV | - | 5/8 | 7 |
22-44332878-C-A | c.758-53C>A | - | IntronicSNV | - | 5/8 | 3 |
22-44332878-C-G | c.758-53C>G | - | IntronicSNV | - | 5/8 | 3 |
22-44332878-C-T | c.758-53C>T | - | IntronicSNV | - | 5/8 | 3 |
22-44332951-C-T | c.778C>T | p.Pro260Ser | Missense | 6/9 | - | 1 |
22-44332993-G-A | c.820G>A | p.Ala274Thr | Missense | 6/9 | - | 1 |
22-44332993-G-C | c.820G>C | p.Ala274Pro | Missense | 6/9 | - | 1 |
22-44332993-G-T | c.820G>T | p.Ala274Ser | Missense | 6/9 | - | 1 |
22-44333009-C-A | c.836C>A | p.Ala279Glu | Missense | 6/9 | - | 1 |
22-44333035-G-A | c.862G>A | p.Glu288Lys | Missense | 6/9 | - | 1 |
22-44333065-GGA-TGT | c.892_894delinsTGT | p.Gly298Cys | Missense | 6/9 | - | 1 |
22-44333172-A-G | c.979+20A>G | - | IntronicSNV | - | 6/8 | 7 |
22-44333370-A-G | c.979+218A>G | - | IntronicSNV | - | 6/8 | 2 |
22-44333479-C-G | c.979+327C>G | - | IntronicSNV | - | 6/8 | 3 |
22-44333479-C-T | c.979+327C>T | - | IntronicSNV | - | 6/8 | 3 |
22-44333694-T-G | c.979+542T>G | - | IntronicSNV | - | 6/8 | 26 |
22-44333945-C-G | c.979+793C>G | - | IntronicSNV | - | 6/8 | 2 |
22-44333968-T-C | c.979+816T>C | - | IntronicSNV | - | 6/8 | 2 |
22-44334476-T-C | c.979+1324T>C | - | IntronicSNV | - | 6/8 | 2 |
22-44334476-T-G | c.979+1324T>G | - | IntronicSNV | - | 6/8 | 2 |
22-44334486-T-C | c.979+1334T>C | - | IntronicSNV | - | 6/8 | 2 |
22-44334486-T-G | c.979+1334T>G | - | IntronicSNV | - | 6/8 | 2 |
22-44334529-T-C | c.980-1344T>C | - | IntronicSNV | - | 6/8 | 3 |
22-44334842-T-C | c.980-1031T>C | - | IntronicSNV | - | 6/8 | 3 |
22-44335331-T-C | c.980-542T>C | - | IntronicSNV | - | 6/8 | 2 |
22-44335406-C-A | c.980-467C>A | - | IntronicSNV | - | 6/8 | 2 |
22-44335416-C-T | c.980-457C>T | - | IntronicSNV | - | 6/8 | 2 |
22-44335453-G-T | c.980-420G>T | - | IntronicSNV | - | 6/8 | 2 |
22-44335744-T-C | c.980-129T>C | - | IntronicSNV | - | 6/8 | 6 |
22-44335885-A-G | c.992A>G | p.Glu331Gly | Missense | 7/9 | - | 1 |
22-44336098-T-C | c.1112+93T>C | - | IntronicSNV | - | 7/8 | 9 |
22-44336310-A-G | c.1112+305A>G | - | IntronicSNV | - | 7/8 | 4 |
22-44336496-T-C | c.1112+491T>C | - | IntronicSNV | - | 7/8 | 2 |
22-44336957-G-A | c.1112+952G>A | - | IntronicSNV | - | 7/8 | 2 |
22-44337533-G-A | c.1112+1528G>A | - | IntronicSNV | - | 7/8 | 8 |
22-44338134-T-C | c.1112+2129T>C | - | IntronicSNV | - | 7/8 | 7 |
22-44338134-T-G | c.1112+2129T>G | - | IntronicSNV | - | 7/8 | 7 |
22-44339526-C-G | c.1113-1045C>G | - | IntronicSNV | - | 7/8 | 2 |
22-44339526-C-T | c.1113-1045C>T | - | IntronicSNV | - | 7/8 | 2 |
22-44340086-C-G | c.1113-485C>G | - | IntronicSNV | - | 7/8 | 2 |
22-44340086-C-T | c.1113-485C>T | - | IntronicSNV | - | 7/8 | 2 |
22-44340618-A-G | c.1160A>G | p.Gln387Arg | Missense | 8/9 | - | 1 |
22-44340642-C-G | c.1184C>G | p.Thr395Ser | Missense | 8/9 | - | 1 |
22-44340904-C-G | c.1217+229C>G | - | IntronicSNV | - | 8/8 | 5 |
22-44340904-C-T | c.1217+229C>T | - | IntronicSNV | - | 8/8 | 5 |
22-44340922-T-G | c.1217+247T>G | - | IntronicSNV | - | 8/8 | 3 |
22-44341193-T-C | c.1217+518T>C | - | IntronicSNV | - | 8/8 | 3 |
22-44341298-G-A | c.1217+623G>A | - | IntronicSNV | - | 8/8 | 2 |
22-44341398-C-A | c.1218-636C>A | - | IntronicSNV | - | 8/8 | 3 |
22-44341398-C-T | c.1218-636C>T | - | IntronicSNV | - | 8/8 | 3 |
22-44341606-T-C | c.1218-428T>C | - | IntronicSNV | - | 8/8 | 2 |
22-44341666-A-G | c.1218-368A>G | - | IntronicSNV | - | 8/8 | 2 |
22-44341672-T-C | c.1218-362T>C | - | IntronicSNV | - | 8/8 | 2 |
22-44341986-T-C | c.1218-48T>C | - | IntronicSNV | - | 8/8 | 5 |
22-44341986-T-G | c.1218-48T>G | - | IntronicSNV | - | 8/8 | 5 |
22-44342116-A-G | c.1300A>G | p.Lys434Glu | Missense | 9/9 | - | 36 |
22-44342153-C-T | c.1337C>T | p.Pro446Leu | Missense | 9/9 | - | 44 |
22-44342156-G-A | c.1340G>A | p.Arg447Gln | Missense | 9/9 | - | 1 |
22-44342174-G-T | c.1358G>T | p.Ser453Ile | Missense | 9/9 | - | 33 |
22-44342175-C-G | c.1359C>G | p.Ser453Arg | Missense | 9/9 | - | 2 |
22-44342175-C-T | c.1359C>T | p.Ser453Ser | Synonymous | 9/9 | - | 1 |
22-44342313-C-G | c.*51C>G | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342313-C-T | c.*51C>T | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342325-C-T | c.*63C>T | - | 3-UTRSNV | 9/9 | - | 4 |
22-44342394-T-A | c.*132T>A | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342394-T-C | c.*132T>C | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342655-G-C | c.*393G>C | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342691-T-C | c.*429T>C | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342969-T-C | c.*707T>C | - | 3-UTRSNV | 9/9 | - | 2 |
22-44342969-T-G | c.*707T>G | - | 3-UTRSNV | 9/9 | - | 2 |
22-44343151-A-G | c.*889A>G | - | 3-UTRSNV | 9/9 | - | 2 |