Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
22-19929519-G-A | c.-92+99G>A | - | intron_variant | - | 1/5 | 1 |
22-19929551-A-G | c.-92+131A>G | - | intron_variant | - | 1/5 | 4 |
22-19929937-C-A | c.-92+517C>A | - | intron_variant | - | 1/5 | 1 |
22-19929937-C-T | c.-92+517C>T | - | intron_variant | - | 1/5 | 1 |
22-19930002-C-A | c.-92+582C>A | - | intron_variant | - | 1/5 | 1 |
22-19930002-C-G | c.-92+582C>G | - | intron_variant | - | 1/5 | 1 |
22-19930014-G-A | c.-92+594G>A | - | intron_variant | - | 1/5 | 1 |
22-19930014-G-T | c.-92+594G>T | - | intron_variant | - | 1/5 | 1 |
22-19930017-G-C | c.-92+597G>C | - | intron_variant | - | 1/5 | 1 |
22-19930109-T-A | c.-92+689T>A | - | intron_variant | - | 1/5 | 24 |
22-19930109-T-C | c.-92+689T>C | - | intron_variant | - | 1/5 | 24 |
22-19930121-A-G | c.-92+701A>G | - | intron_variant | - | 1/5 | 100 |
22-19930159-C-T | c.-92+739C>T | - | intron_variant | - | 1/5 | 4 |
22-19931407-T-A | c.-92+1987T>A | - | intron_variant | - | 1/5 | 27 |
22-19931407-T-C | c.-92+1987T>C | - | intron_variant | - | 1/5 | 27 |
22-19931668-A-G | c.-92+2248A>G | - | intron_variant | - | 1/5 | 19 |
22-19931976-T-C | c.-92+2556T>C | - | intron_variant | - | 1/5 | 4 |
22-19933048-T-G | c.-92+3628T>G | - | intron_variant | - | 1/5 | 4 |
22-19933778-C-A | c.-92+4358C>A | - | intron_variant | - | 1/5 | 2 |
22-19933778-C-G | c.-92+4358C>G | - | intron_variant | - | 1/5 | 2 |
22-19934025-A-G | c.-92+4605A>G | - | intron_variant | - | 1/5 | 4 |
22-19934025-A-T | c.-92+4605A>T | - | intron_variant | - | 1/5 | 4 |
22-19934051-T-C | c.-92+4631T>C | - | intron_variant | - | 1/5 | 11 |
22-19934850-A-G | c.-92+5430A>G | - | intron_variant | - | 1/5 | 1 |
22-19934983-G-A | c.-92+5563G>A | - | intron_variant | - | 1/5 | 1 |
22-19934999-T-C | c.-92+5579T>C | - | intron_variant | - | 1/5 | 5 |
22-19935148-T-C | c.-92+5728T>C | - | intron_variant | - | 1/5 | 1 |
22-19935494-G-A | c.-92+6074G>A | - | intron_variant | - | 1/5 | 1 |
22-19937533-T-C | c.-92+8113T>C | - | intron_variant | - | 1/5 | 15 |
22-19937533-T-G | c.-92+8113T>G | - | intron_variant | - | 1/5 | 15 |
22-19937638-T-G | c.-92+8218T>G | - | intron_variant | - | 1/5 | 21 |
22-19938709-C-T | c.-92+9289C>T | - | intron_variant | - | 1/5 | 1 |
22-19938759-A-G | c.-92+9339A>G | - | intron_variant | - | 1/5 | 1 |
22-19940333-G-A | c.-91-9626G>A | - | IntronicSNV | - | 1/5 | 4 |
22-19940661-C-G | c.-91-8061C>G | - | intron_variant | - | 1/5 | 1 |
22-19940661-C-T | c.-91-8061C>T | - | intron_variant | - | 1/5 | 1 |
22-19941507-A-G | c.-91-7215A>G | - | intron_variant | - | 1/5 | 1 |
22-19941947-C-T | c.-91-6775C>T | - | intron_variant | - | 1/5 | 3 |
22-19942484-C-T | c.-91-6238C>T | - | intron_variant | - | 1/5 | 1 |
22-19942680-C-A | c.-91-6042C>A | - | intron_variant | - | 1/5 | 5 |
22-19942680-C-G | c.-91-6042C>G | - | intron_variant | - | 1/5 | 5 |
22-19942997-A-G | c.-91-5725A>G | - | intron_variant | - | 1/5 | 6 |
22-19944560-G-A | c.-91-4162G>A | - | intron_variant | - | 1/5 | 1 |
22-19944560-G-C | c.-91-4162G>C | - | intron_variant | - | 1/5 | 1 |
22-19945177-A-G | c.-91-3545A>G | - | intron_variant | - | 1/5 | 43 |
22-19947347-G-C | c.-91-1375G>C | - | intron_variant | - | 1/5 | 1 |
22-19947942-C-A | c.-91-780C>A | - | intron_variant | - | 1/5 | 1 |
22-19948134-A-C | c.-91-1825A>C | - | IntronicSNV | - | 1/5 | 1 |
22-19948134-A-T | c.-91-1825A>T | - | IntronicSNV | - | 1/5 | 1 |
22-19948337-T-C | c.-91-385T>C | - | intron_variant | - | 1/5 | 32 |
22-19948863-G-A | c.-1+51G>A | - | intron_variant | - | 2/5 | 12 |
22-19948863-G-C | c.-1+51G>C | - | intron_variant | - | 2/5 | 12 |
22-19948863-G-T | c.-1+51G>T | - | intron_variant | - | 2/5 | 12 |
22-19949013-C-T | c.-1+201C>T | - | intron_variant | - | 2/5 | 16 |
22-19949213-G-A | c.-1+401G>A | - | intron_variant | - | 2/5 | 1 |
22-19949644-G-C | c.1-406G>C | - | IntronicSNV | - | 2/5 | 2 |
22-19949747-T-C | c.1-303T>C | - | IntronicSNV | - | 2/5 | 2 |
22-19949952-A-G | c.1-98A>G | - | IntronicSNV | - | 2/5 | 117 |
22-19949979-C-G | c.-71C>G | - | IntronicSNV | 2/6 | - | 1 |
22-19950020-C-T | c.1-30C>T | - | IntronicSNV | - | 2/5 | 1 |
22-19950062-C-T | c.13C>T | p.Pro5Ser | Missense | 3/6 | - | 1 |
22-19950079-A-C | c.30A>C | p.Ala10Ala | Synonymous | 3/6 | - | 1 |
22-19950079-A-G | c.30A>G | p.Ala10Ala | Synonymous | 3/6 | - | 1 |
22-19950079-A-T | c.30A>T | p.Ala10Ala | Synonymous | 3/6 | - | 1 |
22-19950098-G-C | c.49G>C | p.Val17Leu | Missense | 3/6 | - | 1 |
22-19950098-G-T | c.49G>T | p.Val17Leu | Missense | 3/6 | - | 1 |
22-19950116-CT-GC | c.67_68delinsGC | p.Leu23Ala | Missense | 3/6 | - | 1 |
22-19950149-T-G | c.100T>G | p.Cys34Gly | Missense | 3/6 | - | 1 |
22-19950150-G-C | c.101G>C | p.Cys34Ser | Missense | 3/6 | - | 4 |
22-19950158-GG-CT | c.109_110delinsCT | p.Gly37Leu | Missense | 3/6 | - | 1 |
22-19950159-G-C | c.110G>C | p.Gly37Ala | Missense | 3/6 | - | 1 |
22-19950161-T-A | c.112T>A | p.Trp38Arg | Missense | 3/6 | - | 1 |
22-19950161-T-C | c.112T>C | p.Trp38Arg | Missense | 3/6 | - | 1 |
22-19950161-TG-AA | c.112_113delinsAA | p.Trp38Lys | Missense | 3/6 | - | 1 |
22-19950161-TG-GC | c.112_113delinsGC | p.Trp38Ala | Missense | 3/6 | - | 1 |
22-19950161-TGG-GAC | c.112_114delinsGAC | p.Trp38Asp | Missense | 3/6 | - | 1 |
22-19950161-TG-GT | c.112_113delinsGT | p.Trp38Val | Missense | 3/6 | - | 1 |
22-19950166-C-A | c.117C>A | p.Asn39Lys | Missense | 3/6 | - | 1 |
22-19950166-C-G | c.117C>G | p.Asn39Lys | Missense | 3/6 | - | 1 |
22-19950166-C-T | c.117C>T | p.Asn39Asn | Synonymous | 3/6 | - | 1 |
22-19950189-A-G | c.140A>G | p.His47Arg | Missense | 3/6 | - | 3 |
22-19950200-A-G | c.151A>G | p.Met51Val | Missense | 3/6 | - | 1 |
22-19950200-AT-GC | c.151_152delinsGC | p.Met51Ala | Missense | 3/6 | - | 2 |
22-19950211-C-A | c.162C>A | p.Thr54Thr | Synonymous | 3/6 | - | 1 |
22-19950211-C-G | c.162C>G | p.Thr54Thr | Synonymous | 3/6 | - | 1 |
22-19950211-C-T | c.162C>T | p.Thr54Thr | Synonymous | 3/6 | - | 1 |
22-19950235-C-T | c.186C>T | p.His62His | Synonymous | 3/6 | - | 162 |
22-19950248-G-A | c.199G>A | p.Ala67Thr | Missense | 3/6 | - | 1 |
22-19950248-GCG-TGT | c.199_201delinsTGT | p.Ala67Cys | Missense | 3/6 | - | 1 |
22-19950263-G-A | c.214G>A | p.Ala72Thr | Missense | 3/6 | - | 28 |
22-19950263-G-T | c.214G>T | p.Ala72Ser | Missense | 3/6 | - | 41 |
22-19950268-G-A | c.219G>A | p.Gln73Gln | Synonymous | 3/6 | - | 5 |
22-19950281-G-T | c.232G>T | p.Ala78Ser | Missense | 3/6 | - | 1 |
22-19950282-C-A | c.233C>A | p.Ala78Asp | Missense | 3/6 | - | 1 |
22-19950314-GC-TG | c.265_266delinsTG | p.Ala89Cys | Missense | 3/6 | - | 1 |
22-19950323-G-A | c.274G>A | p.Val92Met | Missense | 3/6 | - | 1 |
22-19950327-G-C | c.278G>C | p.Gly93Ala | Missense | 3/6 | - | 4 |
22-19950347-C-T | c.289+9C>T | - | IntronicSNV | - | 3/5 | 2 |
22-19950428-A-G | c.289+90A>G | - | IntronicSNV | - | 3/5 | 22 |
22-19950763-T-G | c.290-326T>G | - | IntronicSNV | - | 3/5 | 4 |
22-19951101-A-G | c.302A>G | p.Asp101Gly | Missense | 4/6 | - | 1 |
22-19951103-G-A | c.304G>A | p.Ala102Thr | Missense | 4/6 | - | 6 |
22-19951128-C-T | c.329C>T | p.Ser110Phe | Missense | 4/6 | - | 1 |
22-19951173-G-A | c.374G>A | p.Arg125His | Missense | 4/6 | - | 1 |
22-19951174-C-T | c.375C>T | p.Arg125Arg | Synonymous | 4/6 | - | 1 |
22-19951182-G-A | c.383G>A | p.Arg128His | Missense | 4/6 | - | 1 |
22-19951201-G-A | c.402G>A | p.Ala134Ala | Synonymous | 4/6 | - | 2 |
22-19951205-CT-TA | c.406_407delinsTA | p.Leu136Tyr | Missense | 4/6 | - | 1 |
22-19951207-C-G | c.408C>G | p.Leu136Leu | Synonymous | 4/6 | - | 162 |
22-19951207-C-T | c.408C>T | p.Leu136Leu | Synonymous | 4/6 | - | 162 |
22-19951223-A-G | c.424A>G | p.Asn142Asp | Missense | 4/6 | - | 1 |
22-19951230-A-C | c.431A>C | p.Asp144Ala | Missense | 4/6 | - | 1 |
22-19951230-A-G | c.431A>G | p.Asp144Gly | Missense | 4/6 | - | 1 |
22-19951232-TG-GC | c.433_434delinsGC | p.Cys145Ala | Missense | 4/6 | - | 1 |
22-19951236-C-T | c.437C>T | p.Ala146Val | Missense | 4/6 | - | 4 |
22-19951237-C-T | c.438C>T | p.Ala146Ala | Synonymous | 4/6 | - | 3 |
22-19951238-G-A | c.439G>A | p.Ala147Thr | Missense | 4/6 | - | 1 |
22-19951271-G-A | c.472G>A | p.Val158Met | Missense | 4/6 | - | 1716 |
22-19951273-G-A | c.474G>A | p.Val158Val | Synonymous | 4/6 | - | 17 |
22-19951273-G-C | c.474G>C | p.Val158Val | Synonymous | 4/6 | - | 17 |
22-19951273-G-T | c.474G>T | p.Val158Val | Synonymous | 4/6 | - | 17 |
22-19951274-GAAG-G | c.475_477del | p.Lys159del | InFrameDeletion | 4/6 | - | 1 |
22-19951721-AT-TG | c.514_515delinsTG | p.Ile172Cys | Missense | 5/6 | - | 1 |
22-19951804-G-A | c.597G>A | p.Pro199Pro | Synonymous | 5/6 | - | 9 |
22-19951804-G-C | c.597G>C | p.Pro199Pro | Synonymous | 5/6 | - | 1 |
22-19951804-G-T | c.597G>T | p.Pro199Pro | Synonymous | 5/6 | - | 1 |
22-19951816-C-T | c.609C>T | p.Leu203Leu | Synonymous | 5/6 | - | 1 |
22-19951897-G-A | c.615+75G>A | - | IntronicSNV | - | 5/5 | 7 |
22-19951897-G-C | c.615+75G>C | - | IntronicSNV | - | 5/5 | 7 |
22-19952132-C-G | c.615+310C>G | - | IntronicSNV | - | 5/5 | 32 |
22-19952132-C-T | c.615+310C>T | - | IntronicSNV | - | 5/5 | 33 |
22-19952501-C-T | c.615+679C>T | - | IntronicSNV | - | 5/5 | 1 |
22-19952561-G-A | c.615+739G>A | - | IntronicSNV | - | 5/5 | 28 |
22-19953059-T-C | c.615+1237T>C | - | IntronicSNV | - | 5/5 | 2 |
22-19953176-C-A | c.615+1354C>A | - | IntronicSNV | - | 5/5 | 24 |
22-19953176-C-T | c.615+1354C>T | - | IntronicSNV | - | 5/5 | 24 |
22-19953832-A-G | c.615+2010A>G | - | IntronicSNV | - | 5/5 | 12 |
22-19954458-C-T | c.616-1601C>T | - | IntronicSNV | - | 5/5 | 17 |
22-19954847-G-A | c.616-1212G>A | - | IntronicSNV | - | 5/5 | 2 |
22-19954847-G-T | c.616-1212G>T | - | IntronicSNV | - | 5/5 | 2 |
22-19954930-C-CC | c.616-1129dup | - | IntronicInsertion | - | 5/5 | 1 |
22-19955157-G-A | c.616-902G>A | - | IntronicSNV | - | 5/5 | 3 |
22-19955157-G-T | c.616-902G>T | - | IntronicSNV | - | 5/5 | 3 |
22-19955375-T-C | c.616-684T>C | - | IntronicSNV | - | 5/5 | 1 |
22-19955375-T-G | c.616-684T>G | - | IntronicSNV | - | 5/5 | 1 |
22-19955692-C-A | c.616-367C>A | - | IntronicSNV | - | 5/5 | 42 |
22-19955692-C-T | c.616-367C>T | - | IntronicSNV | - | 5/5 | 42 |
22-19956074-C-T | c.631C>T | p.Arg211Trp | Missense | 6/6 | - | 1 |
22-19956078-A-G | c.635A>G | p.Lys212Arg | Missense | 6/6 | - | 1 |
22-19956081-GG-AC | c.638_639delinsAC | p.Gly213Asp | Missense | 6/6 | - | 1 |
22-19956095-GC-TG | c.652_653delinsTG | p.Ala218Cys | Missense | 6/6 | - | 13 |
22-19956110-T-A | c.667T>A | p.Cys223Ser | Missense | 6/6 | - | 1 |
22-19956111-G-C | c.668G>C | p.Cys223Ser | Missense | 6/6 | - | 1 |
22-19956120-C-T | c.677C>T | p.Ala226Val | Missense | 6/6 | - | 1 |
22-19956161-G-A | c.718G>A | p.Glu240Lys | Missense | 6/6 | - | 1 |
22-19956164-T-A | c.721T>A | p.Cys241Ser | Missense | 6/6 | - | 1 |
22-19956165-G-C | c.722G>C | p.Cys241Ser | Missense | 6/6 | - | 1 |
22-19956210-G-A | c.767G>A | p.Gly256Asp | Missense | 6/6 | - | 2 |
22-19956553-C-G | c.*294C>G | - | 3-UTRSNV | 6/6 | - | 3 |
22-19956781-G-A | c.*522G>A | - | 3-UTRSNV | 6/6 | - | 116 |
22-19957023-C-G | c.*764C>G | - | 3-UTRSNV | 6/6 | - | 16 |
22-19957023-C-T | c.*764C>T | - | 3-UTRSNV | 6/6 | - | 16 |