| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-74633081-T-C | c.-68T>C | - | 5_prime_UTR_variant | 1/20 | - | 4 |
| 5-74633264-G-A | c.-24+139G>A | - | intron_variant | - | 1/19 | 1 |
| 5-74633358-G-A | c.-24+233G>A | - | intron_variant | - | 1/19 | 1 |
| 5-74633473-G-C | c.-24+348G>C | - | intron_variant | - | 1/19 | 1 |
| 5-74633540-G-A | c.-24+415G>A | - | intron_variant | - | 1/19 | 1 |
| 5-74633716-G-A | c.-24+591G>A | - | intron_variant | - | 1/19 | 4 |
| 5-74633726-C-T | c.-24+601C>T | - | intron_variant | - | 1/19 | 1 |
| 5-74634473-A-C | c.-24+1348A>C | - | intron_variant | - | 1/19 | 3 |
| 5-74634473-A-G | c.-24+1348A>G | - | intron_variant | - | 1/19 | 3 |
| 5-74635225-G-A | c.-24+2100G>A | - | intron_variant | - | 1/19 | 2 |
| 5-74635225-G-C | c.-24+2100G>C | - | intron_variant | - | 1/19 | 2 |
| 5-74635225-G-T | c.-24+2100G>T | - | intron_variant | - | 1/19 | 2 |
| 5-74635963-G-GTT | c.-23-2437_-23-2436dup | - | IntronicInsertion | - | 1/19 | 1 |
| 5-74635963-G-GT | c.-23-2436dup | - | IntronicInsertion | - | 1/19 | 1 |
| 5-74636028-T-A | c.-23-2380T>A | - | IntronicSNV | - | 1/19 | 1 |
| 5-74636028-T-C | c.-23-2380T>C | - | IntronicSNV | - | 1/19 | 1 |
| 5-74636484-C-A | c.-23-1924C>A | - | IntronicSNV | - | 1/19 | 7 |
| 5-74636906-G-C | c.-23-1502G>C | - | IntronicSNV | - | 1/19 | 1 |
| 5-74637213-T-C | c.-23-1195T>C | - | IntronicSNV | - | 1/19 | 2 |
| 5-74637711-A-T | c.-23-697A>T | - | IntronicSNV | - | 1/19 | 5 |
| 5-74637764-A-G | c.-23-644A>G | - | IntronicSNV | - | 1/19 | 1 |
| 5-74637968-T-C | c.-23-440T>C | - | IntronicSNV | - | 1/19 | 1 |
| 5-74638305-C-T | c.-23-103C>T | - | IntronicSNV | - | 1/19 | 1 |
| 5-74638431-A-G | c.1A>G | p.M1? | Missense | 2/20 | - | 1 |
| 5-74638433-G-A | c.3G>A | p.M1? | Missense | 2/20 | - | 1 |
| 5-74638436-G-C | c.6G>C | p.L2F | Missense | 2/20 | - | 1 |
| 5-74638438-C-A | c.8C>A | p.S3* | Nonsense | 2/20 | - | 1 |
| 5-74638438-C-G | c.8C>G | p.S3* | Nonsense | 2/20 | - | 1 |
| 5-74638441-G-T | c.11G>T | p.R4I | Missense | 2/20 | - | 1 |
| 5-74638456-A-T | c.26A>T | p.H9L | Missense | 2/20 | - | 1 |
| 5-74638458-GG-CA | c.28_29delinsCA | p.G10H | Missense | 2/20 | - | 1 |
| 5-74638459-G-A | c.29G>A | p.G10D | Missense | 2/20 | - | 1 |
| 5-74638464-TTT-AAG | c.34_36delinsAAG | p.F12K | Missense | 2/20 | - | 5 |
| 5-74638470-GCC-TGG | c.40_42delinsTGG | p.A14W | Missense | 2/20 | - | 1 |
| 5-74638470-G-T | c.40G>T | p.A14S | Missense | 2/20 | - | 1 |
| 5-74638471-C-G | c.41C>G | p.A14G | Missense | 2/20 | - | 1 |
| 5-74638471-C-T | c.41C>T | p.A14V | Missense | 2/20 | - | 1 |
| 5-74638472-C-A | c.42C>A | p.A14= | Synonymous | 2/20 | - | 1 |
| 5-74638472-C-G | c.42C>G | p.A14= | Synonymous | 2/20 | - | 1 |
| 5-74638472-C-T | c.42C>T | p.A14= | Synonymous | 2/20 | - | 1 |
| 5-74638473-T-A | c.43T>A | p.S15T | Missense | 2/20 | - | 1 |
| 5-74638473-TCC-GAG | c.43_45delinsGAG | p.S15E | Missense | 2/20 | - | 1 |
| 5-74638473-TC-GA | c.43_44inv | p.S15D | Missense | 2/20 | - | 1 |
| 5-74638473-T-G | c.43T>G | p.S15A | Missense | 2/20 | - | 2 |
| 5-74638474-C-G | c.44C>G | p.S15C | Missense | 2/20 | - | 1 |
| 5-74638474-C-T | c.44C>T | p.S15F | Missense | 2/20 | - | 1 |
| 5-74638475-C-T | c.45C>T | p.S15= | Synonymous | 2/20 | - | 1 |
| 5-74638481-C-A | c.51C>A | p.P17= | Synonymous | 2/20 | - | 1 |
| 5-74638481-C-G | c.51C>G | p.P17= | Synonymous | 2/20 | - | 1 |
| 5-74638481-C-T | c.51C>T | p.P17= | Synonymous | 2/20 | - | 1 |
| 5-74638483-G-A | c.53G>A | p.W18* | Nonsense | 2/20 | - | 1 |
| 5-74638484-G-A | c.54G>A | p.W18* | Nonsense | 2/20 | - | 1 |
| 5-74638489-T-G | c.59T>G | p.V20G | Missense | 2/20 | - | 1 |
| 5-74638491-A-T | c.61A>T | p.I21L | Missense | 2/20 | - | 1 |
| 5-74638491-AT-TA | c.61_62delinsTA | p.I21* | Nonsense | 2/20 | - | 1 |
| 5-74638492-T-C | c.62T>C | p.I21T | Missense | 2/20 | - | 1 |
| 5-74638495-T-C | c.65T>C | p.V22A | Missense | 2/20 | - | 1 |
| 5-74638496-GG-TT | c.66_67delinsTT | p.G23W | Missense | 2/20 | - | 1 |
| 5-74638497-G-T | c.67G>T | p.G23W | Missense | 2/20 | - | 1 |
| 5-74638499-G-A | c.69G>A | p.G23= | Synonymous | 2/20 | - | 1 |
| 5-74638499-G-C | c.69G>C | p.G23= | Synonymous | 2/20 | - | 2 |
| 5-74638499-G-T | c.69G>T | p.G23= | Synonymous | 2/20 | - | 1 |
| 5-74638501-C-CA | c.72dup | p.V25Sfs*16 | Frameshift | 2/20 | - | 1 |
| 5-74638505-G-GA | c.76dup | p.T26Nfs*15 | Frameshift | 2/20 | - | 1 |
| 5-74638508-A-T | c.78A>T | p.T26= | Synonymous | 2/20 | - | 1 |
| 5-74638511-G-T | c.81G>T | p.L27= | Synonymous | 2/20 | - | 1 |
| 5-74638519-G-A | c.89G>A | p.C30Y | Missense | 2/20 | - | 1 |
| 5-74638520-C-T | c.90C>T | p.C30= | Synonymous | 2/20 | - | 1 |
| 5-74638523-G-A | c.93G>A | p.M31I | Missense | 2/20 | - | 1 |
| 5-74638523-G-C | c.93G>C | p.M31I | Missense | 2/20 | - | 1 |
| 5-74638523-G-T | c.93G>T | p.M31I | Missense | 2/20 | - | 1 |
| 5-74638530-A-G | c.100A>G | p.M34V | Missense | 2/20 | - | 1 |
| 5-74638532-G-T | c.102G>T | p.M34I | Missense | 2/20 | - | 1 |
| 5-74638539-T-C | c.109T>C | p.F37L | Missense | 2/20 | - | 2 |
| 5-74638541-T-A | c.111T>A | p.F37L | Missense | 2/20 | - | 2 |
| 5-74638541-T-G | c.111T>G | p.F37L | Missense | 2/20 | - | 2 |
| 5-74638546-G-C | c.116G>C | p.G39A | Missense | 2/20 | - | 1 |
| 5-74638552-A-G | c.122A>G | p.N41S | Missense | 2/20 | - | 1 |
| 5-74638554-A-C | c.124A>C | p.K42Q | Missense | 2/20 | - | 2 |
| 5-74638555-A-C | c.125A>C | p.K42T | Missense | 2/20 | - | 1 |
| 5-74638557-A-G | c.127A>G | p.I43V | Missense | 2/20 | - | 1 |
| 5-74638558-T-G | c.128T>G | p.I43S | Missense | 2/20 | - | 1 |
| 5-74638560-T-C | c.130T>C | p.C44R | Missense | 2/20 | - | 1 |
| 5-74638561-G-A | c.131G>A | p.C44Y | Missense | 2/20 | - | 1 |
| 5-74638561-G-T | c.131G>T | p.C44F | Missense | 2/20 | - | 1 |
| 5-74638563-G-T | c.133G>T | p.G45C | Missense | 2/20 | - | 1 |
| 5-74638575-G-A | c.145G>A | p.E49K | Missense | 2/20 | - | 3 |
| 5-74638578-TG-AC | c.148_149delinsAC | p.C50T | Missense | 2/20 | - | 1 |
| 5-74638579-G-T | c.149G>T | p.C50F | Missense | 2/20 | - | 1 |
| 5-74638580-T-C | c.150T>C | p.C50= | Synonymous | 2/20 | - | 5 |
| 5-74638581-C-A | c.151C>A | p.P51T | Missense | 2/20 | - | 1 |
| 5-74638581-C-T | c.151C>T | p.P51S | Missense | 2/20 | - | 1 |
| 5-74638582-C-G | c.152C>G | p.P51R | Missense | 2/20 | - | 1 |
| 5-74638583-A-C | c.153A>C | p.P51= | Synonymous | 2/20 | - | 1 |
| 5-74638583-A-G | c.153A>G | p.P51= | Synonymous | 2/20 | - | 1 |
| 5-74639138-C-T | c.166-540C>T | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639175-C-G | c.166-503C>G | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639175-C-T | c.166-503C>T | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639178-A-G | c.166-500A>G | - | IntronicSNV | - | 2/19 | 2 |
| 5-74639179-A-T | c.166-499A>T | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639259-T-G | c.166-419T>G | - | IntronicSNV | - | 2/19 | 5 |
| 5-74639269-C-G | c.166-409C>G | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639269-C-T | c.166-409C>T | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639546-T-C | c.166-132T>C | - | IntronicSNV | - | 2/19 | 1 |
| 5-74639678-G-C | c.166G>C | p.D56H | Missense | 3/20 | - | 1 |
| 5-74639680-T-A | c.168T>A | p.D56E | Missense | 3/20 | - | 1 |
| 5-74639680-T-G | c.168T>G | p.D56E | Missense | 3/20 | - | 1 |
| 5-74639684-T-C | c.172T>C | p.L58= | Synonymous | 3/20 | - | 1 |
| 5-74639686-G-A | c.174G>A | p.L58= | Synonymous | 3/20 | - | 1 |
| 5-74639687-A-C | c.175A>C | p.S59R | Missense | 3/20 | - | 1 |
| 5-74639687-AG-GC | c.175_176delinsGC | p.S59A | Missense | 3/20 | - | 1 |
| 5-74639690-AG-TA | c.178_179delinsTA | p.S60Y | Missense | 3/20 | - | 1 |
| 5-74639693-GAC-G | c.183_184del | p.I62Yfs*61 | Frameshift | 3/20 | - | 1 |
| 5-74639702-AATT-A | c.190_192del | p.I64del | InFrameDeletion | 3/20 | - | 1 |
| 5-74639702-A-G | c.190A>G | p.I64V | Missense | 3/20 | - | 1 |
| 5-74639705-C-G | c.193C>G | p.L65V | Missense | 3/20 | - | 1 |
| 5-74639706-T-A | c.194T>A | p.L65Q | Missense | 3/20 | - | 1 |
| 5-74639709-C-T | c.197C>T | p.T66I | Missense | 3/20 | - | 1 |
| 5-74639711-A-G | c.199A>G | p.I67V | Missense | 3/20 | - | 2 |
| 5-74639717-C-T | c.205C>T | p.R69* | Nonsense | 3/20 | - | 1 |
| 5-74639718-G-A | c.206G>A | p.R69Q | Missense | 3/20 | - | 3 |
| 5-74639722-C-T | c.210C>T | p.C70= | Synonymous | 3/20 | - | 1 |
| 5-74639726-GC-TG | c.214_215delinsTG | p.A72C | Missense | 3/20 | - | 1 |
| 5-74639727-C-A | c.215C>A | p.A72D | Missense | 3/20 | - | 1 |
| 5-74639727-CC-AG | c.215_216delinsAG | p.A72E | Missense | 3/20 | - | 1 |
| 5-74639728-C-T | c.216C>T | p.A72= | Synonymous | 3/20 | - | 2 |
| 5-74639730-T-C | c.218T>C | p.I73T | Missense | 3/20 | - | 1 |
| 5-74639732-C-T | c.220C>T | p.L74= | Synonymous | 3/20 | - | 1 |
| 5-74639734-G-A | c.222G>A | p.L74= | Synonymous | 3/20 | - | 1 |
| 5-74639734-G-C | c.222G>C | p.L74= | Synonymous | 3/20 | - | 1 |
| 5-74639734-G-T | c.222G>T | p.L74= | Synonymous | 3/20 | - | 1 |
| 5-74639735-T-C | c.223T>C | p.Y75H | Missense | 3/20 | - | 2 |
| 5-74639736-A-G | c.224A>G | p.Y75C | Missense | 3/20 | - | 1 |
| 5-74639743-C-A | c.231C>A | p.Y77* | Nonsense | 3/20 | - | 1 |
| 5-74639755-G-C | c.243G>C | p.Q81H | Missense | 3/20 | - | 1 |
| 5-74639755-G-T | c.243G>T | p.Q81H | Missense | 3/20 | - | 1 |
| 5-74639760-T-G | c.248T>G | p.L83* | Nonsense | 3/20 | - | 1 |
| 5-74639762-C-T | c.250C>T | p.R84C | Missense | 3/20 | - | 2 |
| 5-74639763-G-A | c.251G>A | p.R84H | Missense | 3/20 | - | 3 |
| 5-74639777-A-T | c.265A>T | p.K89* | Nonsense | 3/20 | - | 1 |
| 5-74639778-A-G | c.266A>G | p.K89R | Missense | 3/20 | - | 8 |
| 5-74639781-A-G | c.269A>G | p.Y90C | Missense | 3/20 | - | 4 |
| 5-74639782-T-A | c.270T>A | p.Y90* | Nonsense | 3/20 | - | 1 |
| 5-74639782-T-G | c.270T>G | p.Y90* | Nonsense | 3/20 | - | 1 |
| 5-74639783-A-T | c.271A>T | p.I91F | Missense | 3/20 | - | 1 |
| 5-74639785-T-G | c.273T>G | p.I91M | Missense | 3/20 | - | 1 |
| 5-74639786-TT-AG | c.274_275delinsAG | p.L92R | Missense | 3/20 | - | 1 |
| 5-74639788-GG-TT | c.276_277delinsTT | p.L92_G93delinsFC | SpliceDonorBlockSubstitution | 3/20 | - | 1 |
| 5-74640070-G-C | c.278G>C | p.G93A | Missense | 4/20 | - | 5 |
| 5-74640070-GT-AG | c.278_279delinsAG | p.G93E | Missense | 4/20 | - | 1 |
| 5-74640075-G-A | c.283G>A | p.A95T | Missense | 4/20 | - | 2 |
| 5-74640078-G-T | c.286G>T | p.G96C | Missense | 4/20 | - | 1 |
| 5-74640079-G-A | c.287G>A | p.G96D | Missense | 4/20 | - | 1 |
| 5-74640080-C-T | c.288C>T | p.G96= | Synonymous | 4/20 | - | 1 |
| 5-74640081-C-T | c.289C>T | p.L97F | Missense | 4/20 | - | 3 |
| 5-74640082-T-A | c.290T>A | p.L97H | Missense | 4/20 | - | 1 |
| 5-74640090-A-G | c.298A>G | p.I100V | Missense | 4/20 | - | 3 |
| 5-74640091-T-A | c.299T>A | p.I100N | Missense | 4/20 | - | 1 |
| 5-74640097-C-G | c.305C>G | p.S102* | Nonsense | 4/20 | - | 1 |
| 5-74640102-T-A | c.310T>A | p.F104I | Missense | 4/20 | - | 1 |
| 5-74640111-AG-CC | c.319_320delinsCC | p.S107P | Missense | 4/20 | - | 1 |
| 5-74640111-AG-TT | c.319_320delinsTT | p.S107F | Missense | 4/20 | - | 1 |
| 5-74640112-G-A | c.320G>A | p.S107N | Missense | 4/20 | - | 1 |
| 5-74640129-T-C | c.337T>C | p.F113L | Missense | 4/20 | - | 1 |
| 5-74640131-C-G | c.339C>G | p.F113L | Missense | 4/20 | - | 1 |
| 5-74640131-C-A | c.339C>A | p.F113L | Missense | 4/20 | - | 2 |
| 5-74640140-A-C | c.348A>C | p.K116N | Missense | 4/20 | - | 1 |
| 5-74640140-A-T | c.348A>T | p.K116N | Missense | 4/20 | - | 1 |
| 5-74640141-G-A | c.349G>A | p.E117K | Missense | 4/20 | - | 2 |
| 5-74640141-G-T | c.349G>T | p.E117* | Nonsense | 4/20 | - | 1 |
| 5-74640148-C-G | c.356C>G | p.T119R | Missense | 4/20 | - | 1 |
| 5-74640148-C-T | c.356C>T | p.T119I | Missense | 4/20 | - | 1 |
| 5-74640149-A-C | c.357A>C | p.T119= | Synonymous | 4/20 | - | 2 |
| 5-74640149-A-G | c.357A>G | p.T119= | Synonymous | 4/20 | - | 3 |
| 5-74640149-A-T | c.357A>T | p.T119= | Synonymous | 4/20 | - | 2 |
| 5-74640150-G-A | c.358G>A | p.G120S | Missense | 4/20 | - | 1 |
| 5-74640151-G-A | c.359G>A | p.G120D | Missense | 4/20 | - | 1 |
| 5-74640490-C-T | c.365+333C>T | - | IntronicSNV | - | 4/19 | 2 |
| 5-74640625-G-A | c.365+468G>A | - | IntronicSNV | - | 4/19 | 1 |
| 5-74640826-G-C | c.366-573G>C | - | IntronicSNV | - | 4/19 | 2 |
| 5-74641407-T-G | c.374T>G | p.L125W | Missense | 5/20 | - | 1 |
| 5-74641410-C-T | c.377C>T | p.P126L | Missense | 5/20 | - | 1 |
| 5-74641411-C-T | c.378C>T | p.P126= | Synonymous | 5/20 | - | 3 |
| 5-74641412-T-C | c.379T>C | p.F127L | Missense | 5/20 | - | 2 |
| 5-74641414-T-A | c.381T>A | p.F127L | Missense | 5/20 | - | 1 |
| 5-74641414-T-G | c.381T>G | p.F127L | Missense | 5/20 | - | 1 |
| 5-74641424-T-C | c.391T>C | p.L131= | Synonymous | 5/20 | - | 3 |
| 5-74641426-G-A | c.393G>A | p.L131= | Synonymous | 5/20 | - | 2 |
| 5-74641428-T-C | c.395T>C | p.I132T | Missense | 5/20 | - | 1 |
| 5-74641430-G-A | c.397G>A | p.D133N | Missense | 5/20 | - | 1 |
| 5-74641432-C-G | c.399C>G | p.D133E | Missense | 5/20 | - | 1 |
| 5-74641437-C-T | c.404C>T | p.S135F | Missense | 5/20 | - | 3 |
| 5-74641438-C-A | c.405C>A | p.S135= | Synonymous | 5/20 | - | 1 |
| 5-74641438-C-G | c.405C>G | p.S135= | Synonymous | 5/20 | - | 1 |
| 5-74641438-C-T | c.405C>T | p.S135= | Synonymous | 5/20 | - | 2 |
| 5-74641441-A-C | c.408A>C | p.R136S | Missense | 5/20 | - | 2 |
| 5-74641441-A-T | c.408A>T | p.R136S | Missense | 5/20 | - | 2 |
| 5-74641442-G-A | c.409G>A | p.A137T | Missense | 5/20 | - | 2 |
| 5-74641445-AG-GC | c.412_413delinsGC | p.S138A | Missense | 5/20 | - | 1 |
| 5-74641449-C-T | c.416C>T | p.T139I | Missense | 5/20 | - | 1 |
| 5-74641458-A-G | c.425A>G | p.K142R | Missense | 5/20 | - | 1 |
| 5-74641460-T-G | c.427T>G | p.F143V | Missense | 5/20 | - | 1 |
| 5-74641464-C-T | c.431C>T | p.A144V | Missense | 5/20 | - | 1 |
| 5-74641466-C-T | c.433C>T | p.L145F | Missense | 5/20 | - | 1 |
| 5-74641471-T-C | c.438T>C | p.S146= | Synonymous | 5/20 | - | 3 |
| 5-74641472-T-C | c.439T>C | p.S147P | Missense | 5/20 | - | 1 |
| 5-74641474-C-A | c.441C>A | p.S147= | Synonymous | 5/20 | - | 1 |
| 5-74641474-C-G | c.441C>G | p.S147= | Synonymous | 5/20 | - | 1 |
| 5-74641474-C-T | c.441C>T | p.S147= | Synonymous | 5/20 | - | 1 |
| 5-74641483-G-A | c.450G>A | p.Q150= | Synonymous | 5/20 | - | 1 |
| 5-74641560-G-A | c.450+77G>A | - | IntronicSNV | - | 5/19 | 10 |
| 5-74641593-A-G | c.450+110A>G | - | IntronicSNV | - | 5/19 | 1 |
| 5-74641707-G-A | c.450+224G>A | - | IntronicSNV | - | 5/19 | 18 |
| 5-74642408-G-A | c.451-621G>A | - | IntronicSNV | - | 5/19 | 1 |
| 5-74642408-G-T | c.451-621G>T | - | IntronicSNV | - | 5/19 | 1 |
| 5-74642432-T-C | c.451-597T>C | - | IntronicSNV | - | 5/19 | 1 |
| 5-74642848-A-T | c.451-181A>T | - | IntronicSNV | - | 5/19 | 4 |
| 5-74642855-A-T | c.451-174A>T | - | IntronicSNV | - | 5/19 | 43 |
| 5-74643030-A-G | c.452A>G | p.D151G | Missense | 6/20 | - | 1 |
| 5-74643031-T-C | c.453T>C | p.D151= | Synonymous | 6/20 | - | 1 |
| 5-74643032-G-T | c.454G>T | p.E152* | Nonsense | 6/20 | - | 1 |
| 5-74643034-A-C | c.456A>C | p.E152D | Missense | 6/20 | - | 1 |
| 5-74643034-A-T | c.456A>T | p.E152D | Missense | 6/20 | - | 1 |
| 5-74643035-G-T | c.457G>T | p.V153L | Missense | 6/20 | - | 1 |
| 5-74643038-AGG-CAT | c.460_462delinsCAT | p.R154H | Missense | 6/20 | - | 1 |
| 5-74643039-G-A | c.461G>A | p.R154K | Missense | 6/20 | - | 1 |
| 5-74643039-GG-TC | c.461_462delinsTC | p.R154I | Missense | 6/20 | - | 1 |
| 5-74643039-GG-TT | c.461_462delinsTT | p.R154I | Missense | 6/20 | - | 1 |
| 5-74643041-G-T | c.463G>T | p.E155* | Nonsense | 6/20 | - | 2 |
| 5-74643047-A-T | c.469A>T | p.I157F | Missense | 6/20 | - | 2 |
| 5-74643049-T-A | c.471T>A | p.I157= | Synonymous | 6/20 | - | 1 |
| 5-74643049-T-C | c.471T>C | p.I157= | Synonymous | 6/20 | - | 2 |
| 5-74643051-C-T | c.473C>T | p.A158V | Missense | 6/20 | - | 1 |
| 5-74643053-C-T | c.475C>T | p.R159C | Missense | 6/20 | - | 8 |
| 5-74643054-G-A | c.476G>A | p.R159H | Missense | 6/20 | - | 1 |
| 5-74643057-G-C | c.479G>C | p.G160A | Missense | 6/20 | - | 1 |
| 5-74643063-C-G | c.485C>G | p.A162G | Missense | 6/20 | - | 1 |
| 5-74643065-A-G | c.487A>G | p.I163V | Missense | 6/20 | - | 1 |
| 5-74643067-T-C | c.489T>C | p.I163= | Synonymous | 6/20 | - | 1 |
| 5-74643072-G-T | c.494G>T | p.G165V | Missense | 6/20 | - | 1 |
| 5-74643072-GT-AG | c.494_495delinsAG | p.G165E | Missense | 6/20 | - | 1 |
| 5-74643075-C-T | c.497C>T | p.P166L | Missense | 6/20 | - | 2 |
| 5-74643078-C-T | c.500C>T | p.T167M | Missense | 6/20 | - | 7 |
| 5-74643079-G-A | c.501G>A | p.T167= | Synonymous | 6/20 | - | 1 |
| 5-74643079-G-C | c.501G>C | p.T167= | Synonymous | 6/20 | - | 1 |
| 5-74643081-T-C | c.503T>C | p.F168S | Missense | 6/20 | - | 1 |
| 5-74643088-C-T | c.510C>T | p.L170= | Synonymous | 6/20 | - | 4 |
| 5-74643092-G-A | c.514G>A | p.A172T | Missense | 6/20 | - | 2 |
| 5-74643092-G-C | c.514G>C | p.A172P | Missense | 6/20 | - | 1 |
| 5-74643093-C-T | c.515C>T | p.A172V | Missense | 6/20 | - | 2 |
| 5-74643098-G-A | c.520G>A | p.V174I | Missense | 6/20 | - | 1 |
| 5-74643098-G-C | c.520G>C | p.V174L | Missense | 6/20 | - | 1 |
| 5-74643098-G-T | c.520G>T | p.V174F | Missense | 6/20 | - | 1 |
| 5-74643099-T-C | c.521T>C | p.V174A | Missense | 6/20 | - | 5 |
| 5-74643105-G-A | c.527G>A | p.C176Y | Missense | 6/20 | - | 2 |
| 5-74643107-C-G | c.529C>G | p.L177V | Missense | 6/20 | - | 4 |
| 5-74643109-T-C | c.531T>C | p.L177= | Synonymous | 6/20 | - | 1 |
| 5-74643113-A-G | c.535A>G | p.I179V | Missense | 6/20 | - | 1 |
| 5-74643114-T-C | c.536T>C | p.I179T | Missense | 6/20 | - | 1 |
| 5-74643115-T-G | c.537T>G | p.I179M | Missense | 6/20 | - | 1 |
| 5-74643117-G-A | c.539G>A | p.G180E | Missense | 6/20 | - | 2 |
| 5-74643124-T-A | c.546T>A | p.G182= | Synonymous | 6/20 | - | 2 |
| 5-74643124-T-C | c.546T>C | p.G182= | Synonymous | 6/20 | - | 2 |
| 5-74643124-T-G | c.546T>G | p.G182= | Synonymous | 6/20 | - | 2 |
| 5-74643127-C-T | c.549C>T | p.T183= | Synonymous | 6/20 | - | 1 |
| 5-74643128-A-G | c.550A>G | p.M184V | Missense | 6/20 | - | 1 |
| 5-74643132-C-A | c.554C>A | p.S185* | Nonsense | 6/20 | - | 1 |
| 5-74643132-C-G | c.554C>G | p.S185* | Nonsense | 6/20 | - | 1 |
| 5-74643670-T-C | c.556+536T>C | - | IntronicSNV | - | 6/19 | 2 |
| 5-74643998-A-ATTC | c.556+866_556+867insCTT | - | IntronicInsertion | - | 6/19 | 1 |
| 5-74644072-A-T | c.556+938A>T | - | IntronicSNV | - | 6/19 | 1 |
| 5-74644681-G-T | c.557-1186G>T | - | IntronicSNV | - | 6/19 | 2 |
| 5-74644706-T-G | c.557-1161T>G | - | IntronicSNV | - | 6/19 | 4 |
| 5-74645225-T-C | c.557-642T>C | - | IntronicSNV | - | 6/19 | 1 |
| 5-74645272-A-G | c.557-595A>G | - | IntronicSNV | - | 6/19 | 2 |
| 5-74645281-C-A | c.557-586C>A | - | IntronicSNV | - | 6/19 | 1 |
| 5-74645867-G-C | c.557G>C | p.G186A | Missense | 7/20 | - | 4 |
| 5-74645867-GG-TT | c.557_558delinsTT | p.G186V | SpliceAcceptorBlockSubstitution | 7/20 | - | 1 |
| 5-74645867-G-T | c.557G>T | p.G186V | Missense | 7/20 | - | 1 |
| 5-74645869-G-C | c.559G>C | p.V187L | Missense | 7/20 | - | 1 |
| 5-74645869-G-T | c.559G>T | p.V187L | Missense | 7/20 | - | 2 |
| 5-74645872-C-T | c.562C>T | p.R188C | Missense | 7/20 | - | 1 |
| 5-74645873-G-T | c.563G>T | p.R188L | Missense | 7/20 | - | 1 |
| 5-74645875-C-T | c.565C>T | p.Q189* | Nonsense | 7/20 | - | 1 |
| 5-74645877-G-C | c.567G>C | p.Q189H | Missense | 7/20 | - | 1 |
| 5-74645877-G-T | c.567G>T | p.Q189H | Missense | 7/20 | - | 1 |
| 5-74645880-T-A | c.570T>A | p.L190= | Synonymous | 7/20 | - | 2 |
| 5-74645880-T-C | c.570T>C | p.L190= | Synonymous | 7/20 | - | 2 |
| 5-74645880-T-G | c.570T>G | p.L190= | Synonymous | 7/20 | - | 3 |
| 5-74645890-T-A | c.580T>A | p.C194S | Missense | 7/20 | - | 1 |
| 5-74645891-G-C | c.581G>C | p.C194S | Missense | 7/20 | - | 1 |
| 5-74645892-C-G | c.582C>G | p.C194W | Missense | 7/20 | - | 1 |
| 5-74645893-T-A | c.583T>A | p.C195S | Missense | 7/20 | - | 1 |
| 5-74645899-G-A | c.589G>A | p.G197S | Missense | 7/20 | - | 1 |
| 5-74645918-C-G | c.608C>G | p.A203G | Missense | 7/20 | - | 1 |
| 5-74645921-A-G | c.611A>G | p.N204S | Missense | 7/20 | - | 9 |
| 5-74645923-T-C | c.613T>C | p.Y205H | Missense | 7/20 | - | 1 |
| 5-74645940-T-G | c.630T>G | p.T210= | Synonymous | 7/20 | - | 1 |
| 5-74645944-T-A | c.634T>A | p.F212I | Missense | 7/20 | - | 1 |
| 5-74645944-T-G | c.634T>G | p.F212V | Missense | 7/20 | - | 1 |
| 5-74645947-CC-AA | c.637_638delinsAA | p.P213K | Missense | 7/20 | - | 2 |
| 5-74645951-C-A | c.641C>A | p.A214D | Missense | 7/20 | - | 1 |
| 5-74645953-TG-GC | c.643_644delinsGC | p.C215A | Missense | 7/20 | - | 1 |
| 5-74645955-T-C | c.645T>C | p.C215= | Synonymous | 7/20 | - | 2 |
| 5-74645957-T-G | c.647T>G | p.V216G | Missense | 7/20 | - | 1 |
| 5-74645959-TC-CT | c.649_650delinsCT | p.S217L | Missense | 7/20 | - | 1 |
| 5-74645959-T-G | c.649T>G | p.S217A | Missense | 7/20 | - | 1 |
| 5-74645961-C-A | c.651C>A | p.S217= | Synonymous | 7/20 | - | 1 |
| 5-74645961-C-G | c.651C>G | p.S217= | Synonymous | 7/20 | - | 1 |
| 5-74645961-C-T | c.651C>T | p.S217= | Synonymous | 7/20 | - | 1 |
| 5-74645964-G-C | c.654G>C | p.L218F | Missense | 7/20 | - | 3 |
| 5-74645964-G-T | c.654G>T | p.L218F | Missense | 7/20 | - | 1 |
| 5-74645970-A-C | c.660A>C | p.L220F | Missense | 7/20 | - | 2 |
| 5-74645970-A-T | c.660A>T | p.L220F | Missense | 7/20 | - | 2 |
| 5-74646084-T-G | c.665T>G | p.L222R | Missense | 8/20 | - | 1 |
| 5-74646089-C-G | c.670C>G | p.R224G | Missense | 8/20 | - | 2 |
| 5-74646089-C-T | c.670C>T | p.R224W | Missense | 8/20 | - | 3 |
| 5-74646090-G-A | c.671G>A | p.R224Q | Missense | 8/20 | - | 3 |
| 5-74646090-GG-AT | c.671_672delinsAT | p.R224H | Missense | 8/20 | - | 1 |
| 5-74646090-G-T | c.671G>T | p.R224L | Missense | 8/20 | - | 1 |
| 5-74646092-G-A | c.673G>A | p.E225K | Missense | 8/20 | - | 1 |
| 5-74646098-C-T | c.679C>T | p.R227C | Missense | 8/20 | - | 1 |
| 5-74646099-G-A | c.680G>A | p.R227H | Missense | 8/20 | - | 1 |
| 5-74646101-G-A | c.682G>A | p.E228K | Missense | 8/20 | - | 1 |
| 5-74646107-C-T | c.688C>T | p.R230C | Missense | 8/20 | - | 3 |
| 5-74646108-GT-AA | c.689_690delinsAA | p.R230Q | Missense | 8/20 | - | 1 |
| 5-74646120-A-G | c.701A>G | p.Q234R | Missense | 8/20 | - | 1 |
| 5-74646121-G-A | c.702G>A | p.Q234= | Synonymous | 8/20 | - | 1 |
| 5-74646137-C-T | c.718C>T | p.R240* | Nonsense | 8/20 | - | 2 |
| 5-74646140-G-C | c.721G>C | p.V241L | Missense | 8/20 | - | 1 |
| 5-74646143-T-C | c.724T>C | p.L242= | Synonymous | 8/20 | - | 1 |
| 5-74646145-A-G | c.726A>G | p.L242= | Synonymous | 8/20 | - | 2 |
| 5-74646146-G-A | c.727G>A | p.E243K | Missense | 8/20 | - | 4 |
| 5-74646144-TAGA-T | c.736_738del | p.E246del | InFrameDeletion | 8/20 | - | 1 |
| 5-74646157-A-C | c.738A>C | p.E246D | Missense | 8/20 | - | 1 |
| 5-74646157-A-T | c.738A>T | p.E246D | Missense | 8/20 | - | 1 |
| 5-74646159-A-T | c.740A>T | p.N247I | Missense | 8/20 | - | 2 |
| 5-74646162-A-G | c.743A>G | p.K248R | Missense | 8/20 | - | 5 |
| 5-74646163-G-A | c.744G>A | p.K248= | Synonymous | 8/20 | - | 1 |
| 5-74646165-C-T | c.746C>T | p.P249L | Missense | 8/20 | - | 8 |
| 5-74646166-G-A | c.747G>A | p.P249= | Synonymous | 8/20 | - | 1 |
| 5-74646167-A-G | c.748A>G | p.N250D | Missense | 8/20 | - | 1 |
| 5-74646173-G-A | c.754G>A | p.V252I | Missense | 8/20 | - | 3 |
| 5-74646177-CT-TG | c.758_759delinsTG | p.T253M | Missense | 8/20 | - | 1 |
| 5-74646180-A-C | c.761A>C | p.Q254P | Missense | 8/20 | - | 1 |
| 5-74646180-A-T | c.761A>T | p.Q254L | Missense | 8/20 | - | 3 |
| 5-74646181-G-C | c.762G>C | p.Q254H | Missense | 8/20 | - | 4 |
| 5-74646181-G-T | c.762G>T | p.Q254H | Missense | 8/20 | - | 3 |
| 5-74646182-AG-TA | c.763_764delinsTA | p.R255* | Nonsense | 8/20 | - | 1 |
| 5-74646188-A-G | c.769A>G | p.K257E | Missense | 8/20 | - | 1 |
| 5-74646190-G-C | c.771G>C | p.K257N | Missense | 8/20 | - | 1 |
| 5-74646190-G-T | c.771G>T | p.K257N | Missense | 8/20 | - | 1 |
| 5-74646196-T-G | c.777T>G | p.I259M | Missense | 8/20 | - | 4 |
| 5-74646197-A-G | c.778A>G | p.M260V | Missense | 8/20 | - | 1 |
| 5-74646198-T-C | c.779T>C | p.M260T | Missense | 8/20 | - | 1 |
| 5-74646255-T-A | c.780+56T>A | - | IntronicSNV | - | 8/19 | 8 |
| 5-74646617-C-G | c.784C>G | p.L262V | Missense | 9/20 | - | 1 |
| 5-74646618-T-A | c.785T>A | p.L262Q | Missense | 9/20 | - | 1 |
| 5-74646623-T-C | c.790T>C | p.L264= | Synonymous | 9/20 | - | 1 |
| 5-74646627-T-A | c.794T>A | p.V265D | Missense | 9/20 | - | 1 |
| 5-74646632-G-A | c.799G>A | p.V267I | Missense | 9/20 | - | 1 |
| 5-74646635-C-T | c.802C>T | p.H268Y | Missense | 9/20 | - | 1 |
| 5-74646638-G-A | c.805G>A | p.A269T | Missense | 9/20 | - | 1 |
| 5-74646642-A-G | c.809A>G | p.H270R | Missense | 9/20 | - | 4 |
| 5-74646642-A-T | c.809A>T | p.H270L | Missense | 9/20 | - | 5 |
| 5-74646643-C-T | c.810C>T | p.H270= | Synonymous | 9/20 | - | 3 |
| 5-74646647-C-T | c.814C>T | p.R272C | Missense | 9/20 | - | 1 |
| 5-74646648-G-A | c.815G>A | p.R272H | Missense | 9/20 | - | 1 |
| 5-74646655-A-G | c.822A>G | p.I274M | Missense | 9/20 | - | 1 |
| 5-74646659-G-C | c.826G>C | p.D276H | Missense | 9/20 | - | 1 |
| 5-74646662-C-G | c.829C>G | p.P277A | Missense | 9/20 | - | 4 |
| 5-74646663-C-T | c.830C>T | p.P277L | Missense | 9/20 | - | 2 |
| 5-74646664-T-G | c.831T>G | p.P277= | Synonymous | 9/20 | - | 1 |
| 5-74646665-T-C | c.832T>C | p.S278P | Missense | 9/20 | - | 1 |
| 5-74646668-CC-AT | c.835_836delinsAT | p.P279I | Missense | 9/20 | - | 1 |
| 5-74646669-C-T | c.836C>T | p.P279L | UnclassifiedSNV | 9/20 | - | 1 |
| 5-74646670-T-C | c.837T>C | p.P279= | Synonymous | 9/20 | - | 2 |
| 5-74646678-G-A | c.845G>A | p.S282N | Missense | 9/20 | - | 1 |
| 5-74646683-G-A | c.850G>A | p.A284T | Missense | 9/20 | - | 1 |
| 5-74646690-CT-TG | c.857_858delinsTG | p.T286M | Missense | 9/20 | - | 1 |
| 5-74646692-T-C | c.859T>C | p.S287P | Missense | 9/20 | - | 1 |
| 5-74646693-C-A | c.860C>A | p.S287Y | Missense | 9/20 | - | 2 |
| 5-74646697-G-A | c.864G>A | p.K288= | Synonymous | 9/20 | - | 1 |
| 5-74646697-G-T | c.864G>T | p.K288N | Missense | 9/20 | - | 1 |
| 5-74646706-A-C | c.873A>C | p.L291F | Missense | 9/20 | - | 1 |
| 5-74646706-A-G | c.873A>G | p.L291= | Synonymous | 9/20 | - | 1 |
| 5-74646706-A-T | c.873A>T | p.L291F | Missense | 9/20 | - | 1 |
| 5-74646719-A-G | c.886A>G | p.N296D | Missense | 9/20 | - | 1 |
| 5-74646732-G-T | c.899G>T | p.R300I | Missense | 9/20 | - | 3 |
| 5-74646733-A-C | c.900A>C | p.R300S | Missense | 9/20 | - | 1 |
| 5-74646733-A-T | c.900A>T | p.R300S | Missense | 9/20 | - | 2 |
| 5-74646745-T-C | c.912T>C | p.S304= | Synonymous | 9/20 | - | 1 |
| 5-74646746-G-A | c.913G>A | p.V305I | Missense | 9/20 | - | 2 |
| 5-74646750-C-T | c.917C>T | p.S306F | Missense | 9/20 | - | 6 |
| 5-74646751-C-A | c.918C>A | p.S306= | Synonymous | 9/20 | - | 1 |
| 5-74646751-C-G | c.918C>G | p.S306= | Synonymous | 9/20 | - | 1 |
| 5-74646751-C-T | c.918C>T | p.S306= | Synonymous | 9/20 | - | 1 |
| 5-74646752-C-A | c.919C>A | p.L307I | Missense | 9/20 | - | 1 |
| 5-74646756-TGGCAGTTTTATCTCTCTAAGTAAGTTAATTGA-T | c.923_941+13del | - | SpliceDonorDeletion | 9/20 | 9/19 | 1 |
| 5-74646758-C-A | c.925C>A | p.Q309K | Missense | 9/20 | - | 1 |
| 5-74646761-T-C | c.928T>C | p.F310L | Missense | 9/20 | - | 2 |
| 5-74646763-T-A | c.930T>A | p.F310L | Missense | 9/20 | - | 1 |
| 5-74646763-T-G | c.930T>G | p.F310L | Missense | 9/20 | - | 1 |
| 5-74646765-A-C | c.932A>C | p.Y311S | Missense | 9/20 | - | 5 |
| 5-74646765-A-G | c.932A>G | p.Y311C | Missense | 9/20 | - | 2 |
| 5-74646878-C-T | c.942-15C>T | - | IntronicSNV | - | 9/19 | 6 |
| 5-74646896-G-A | c.945G>A | p.M315I | Missense | 10/20 | - | 1 |
| 5-74646896-G-C | c.945G>C | p.M315I | Missense | 10/20 | - | 1 |
| 5-74646896-G-T | c.945G>T | p.M315I | Missense | 10/20 | - | 1 |
| 5-74646898-T-C | c.947T>C | p.I316T | Missense | 10/20 | - | 1 |
| 5-74646905-G-A | c.954G>A | p.M318I | Missense | 10/20 | - | 1 |
| 5-74646905-G-C | c.954G>C | p.M318I | Missense | 10/20 | - | 1 |
| 5-74646905-G-T | c.954G>T | p.M318I | Missense | 10/20 | - | 1 |
| 5-74646917-A-C | c.966A>C | p.Q322H | Missense | 10/20 | - | 1 |
| 5-74646917-A-G | c.966A>G | p.Q322= | Synonymous | 10/20 | - | 1 |
| 5-74646917-A-T | c.966A>T | p.Q322H | Missense | 10/20 | - | 1 |
| 5-74646925-C-T | c.974C>T | p.T325I | Missense | 10/20 | - | 2 |
| 5-74646927-C-T | c.976C>T | p.L326= | Synonymous | 10/20 | - | 1 |
| 5-74646929-A-C | c.978A>C | p.L326= | Synonymous | 10/20 | - | 1 |
| 5-74646929-A-G | c.978A>G | p.L326= | Synonymous | 10/20 | - | 1 |
| 5-74646929-A-T | c.978A>T | p.L326= | Synonymous | 10/20 | - | 1 |
| 5-74646933-TT-AC | c.982_983delinsAC | p.L328T | Missense | 10/20 | - | 1 |
| 5-74646934-T-C | c.983T>C | p.L328S | Missense | 10/20 | - | 1 |
| 5-74646935-A-C | c.984A>C | p.L328F | Missense | 10/20 | - | 1 |
| 5-74646935-A-T | c.984A>T | p.L328F | Missense | 10/20 | - | 1 |
| 5-74646941-C-A | c.990C>A | p.L330= | Synonymous | 10/20 | - | 1 |
| 5-74646941-C-G | c.990C>G | p.L330= | Synonymous | 10/20 | - | 1 |
| 5-74646941-C-T | c.990C>T | p.L330= | Synonymous | 10/20 | - | 3 |
| 5-74646945-C-G | c.994C>G | p.L332V | Missense | 10/20 | - | 1 |
| 5-74646952-GT-G | c.1001del | p.V334Afs*17 | Frameshift | 10/20 | - | 1 |
| 5-74646954-A-C | c.1003A>C | p.K335Q | Missense | 10/20 | - | 1 |
| 5-74646960-A-G | c.1009A>G | p.I337V | Missense | 10/20 | - | 1 |
| 5-74646969-GAACA-G | c.1023_1026del | p.T342Rfs*8 | Frameshift | 10/20 | - | 1 |
| 5-74646978-G-A | c.1027G>A | p.E343K | Missense | 10/20 | - | 1 |
| 5-74646980-G-C | c.1029G>C | p.E343D | Missense | 10/20 | - | 1 |
| 5-74646984-G-T | c.1033G>T | p.E345* | Nonsense | 10/20 | - | 1 |
| 5-74646991-C-T | c.1040C>T | p.T347I | Missense | 10/20 | - | 1 |
| 5-74646995-C-G | c.1044C>G | p.L348= | Synonymous | 10/20 | - | 3 |
| 5-74646998-A-G | c.1047A>G | p.S349= | Synonymous | 10/20 | - | 1 |
| 5-74647001-A-C | c.1050A>C | p.L350F | Missense | 10/20 | - | 1 |
| 5-74647001-A-T | c.1050A>T | p.L350F | Missense | 10/20 | - | 1 |
| 5-74647000-TA-T | c.1055del | p.N352Tfs*7 | Frameshift | 10/20 | - | 3 |
| 5-74647013-C-G | c.1062C>G | p.I354M | Missense | 10/20 | - | 8 |
| 5-74647018-C-T | c.1067C>T | p.S356F | Missense | 10/20 | - | 1 |
| 5-74647021-C-A | c.1070C>A | p.P357H | Missense | 10/20 | - | 1 |
| 5-74647023-GTA-ATG | c.1072_1074delinsATG | p.V358M | Missense | 10/20 | - | 1 |
| 5-74647026-G-C | c.1075G>C | p.V359L | Missense | 10/20 | - | 1 |
| 5-74647026-G-T | c.1075G>T | p.V359L | Missense | 10/20 | - | 1 |
| 5-74647030-C-A | c.1079C>A | p.T360K | Missense | 10/20 | - | 2 |
| 5-74647031-A-C | c.1080A>C | p.T360= | Synonymous | 10/20 | - | 1 |
| 5-74647031-A-G | c.1080A>G | p.T360= | Synonymous | 10/20 | - | 2 |
| 5-74647031-A-T | c.1080A>T | p.T360= | Synonymous | 10/20 | - | 1 |
| 5-74647034-A-G | c.1083A>G | p.Q361= | Synonymous | 10/20 | - | 1 |
| 5-74647036-A-C | c.1085A>C | p.K362T | Missense | 10/20 | - | 1 |
| 5-74647037-G-C | c.1086G>C | p.K362N | Missense | 10/20 | - | 2 |
| 5-74647037-G-T | c.1086G>T | p.K362N | Missense | 10/20 | - | 2 |
| 5-74647039-A-T | c.1088A>T | p.K363I | Missense | 10/20 | - | 1 |
| 5-74647050-CAATT-C | c.1099_1102del | p.N367Vfs*18 | Frameshift | 10/20 | - | 1 |
| 5-74647053-T-C | c.1102T>C | p.C368R | Missense | 10/20 | - | 1 |
| 5-74647051-ATTG-A | c.1105_1107del | p.C369del | InFrameDeletion | 10/20 | - | 2 |
| 5-74647059-AGA-TGT | c.1108_1110delinsTGT | p.R370C | Missense | 10/20 | - | 1 |
| 5-74647060-G-A | c.1109G>A | p.R370K | Missense | 10/20 | - | 1 |
| 5-74647062-C-T | c.1111C>T | p.R371C | Missense | 10/20 | - | 1 |
| 5-74647066-A-T | c.1115A>T | p.E372V | Missense | 10/20 | - | 5 |
| 5-74647074-C-T | c.1123C>T | p.L375= | Synonymous | 10/20 | - | 1 |
| 5-74647080-AGA-CAT | c.1129_1131delinsCAT | p.R377H | Missense | 10/20 | - | 1 |
| 5-74647084-A-G | c.1133A>G | p.N378S | Missense | 10/20 | - | 1 |
| 5-74647102-C-T | c.1151C>T | p.S384L | Missense | 10/20 | - | 1 |
| 5-74647104-G-A | c.1153G>A | p.V385I | Missense | 10/20 | - | 3 |
| 5-74647120-G-A | c.1169G>A | p.G390E | Missense | 10/20 | - | 1 |
| 5-74647126-A-T | c.1175A>T | p.N392I | Missense | 10/20 | - | 1 |
| 5-74647128-C-A | c.1177C>A | p.R393= | Synonymous | 10/20 | - | 3 |
| 5-74647128-CGA-TGT | c.1177_1179delinsTGT | p.R393C | Missense | 10/20 | - | 1 |
| 5-74647128-C-T | c.1177C>T | p.R393* | Nonsense | 10/20 | - | 1 |
| 5-74647130-A-C | c.1179A>C | p.R393= | Synonymous | 10/20 | - | 1 |
| 5-74647130-A-G | c.1179A>G | p.R393= | Synonymous | 10/20 | - | 1 |
| 5-74647130-A-T | c.1179A>T | p.R393= | Synonymous | 10/20 | - | 1 |
| 5-74647129-G-A | c.1178G>A | p.R393Q | Missense | 10/20 | - | 3 |
| 5-74647135-G-C | c.1184G>C | p.R395T | Missense | 10/20 | - | 1 |
| 5-74647159-C-T | c.1189+19C>T | - | IntronicSNV | - | 10/19 | 1 |
| 5-74647184-C-G | c.1189+44C>G | - | IntronicSNV | - | 10/19 | 1 |
| 5-74647251-GA-CC | c.1192_1193delinsCC | p.E398P | Missense | 11/20 | - | 1 |
| 5-74647253-G-C | c.1194G>C | p.E398D | Missense | 11/20 | - | 1 |
| 5-74647253-G-T | c.1194G>T | p.E398D | Missense | 11/20 | - | 2 |
| 5-74647264-C-T | c.1205C>T | p.P402L | Missense | 11/20 | - | 2 |
| 5-74647265-C-A | c.1206C>A | p.P402= | Synonymous | 11/20 | - | 1 |
| 5-74647267-T-G | c.1208T>G | p.L403* | Nonsense | 11/20 | - | 1 |
| 5-74647275-G-A | c.1216G>A | p.E406K | Missense | 11/20 | - | 1 |
| 5-74647281-G-A | c.1222G>A | p.D408N | Missense | 11/20 | - | 1 |
| 5-74647286-C-A | c.1227C>A | p.T409= | Synonymous | 11/20 | - | 1 |
| 5-74647286-C-G | c.1227C>G | p.T409= | Synonymous | 11/20 | - | 1 |
| 5-74647286-C-T | c.1227C>T | p.T409= | Synonymous | 11/20 | - | 1 |
| 5-74647287-C-T | c.1228C>T | p.P410S | Missense | 11/20 | - | 2 |
| 5-74647290-A-C | c.1231A>C | p.N411H | Missense | 11/20 | - | 1 |
| 5-74647297-C-G | c.1238C>G | p.A413G | Missense | 11/20 | - | 1 |
| 5-74647298-T-A | c.1239T>A | p.A413= | Synonymous | 11/20 | - | 1 |
| 5-74647298-T-C | c.1239T>C | p.A413= | Synonymous | 11/20 | - | 1 |
| 5-74647298-T-G | c.1239T>G | p.A413= | Synonymous | 11/20 | - | 1 |
| 5-74647299-A-G | c.1240A>G | p.T414A | Missense | 11/20 | - | 1 |
| 5-74647305-GTG-ATC | c.1246_1248delinsATC | p.V416I | Missense | 11/20 | - | 1 |
| 5-74647306-TG-AC | c.1247_1248delinsAC | p.V416D | Missense | 11/20 | - | 1 |
| 5-74647307-G-A | c.1248G>A | p.V416= | Synonymous | 11/20 | - | 2 |
| 5-74647307-G-C | c.1248G>C | p.V416= | Synonymous | 11/20 | - | 2 |
| 5-74647307-G-T | c.1248G>T | p.V416= | Synonymous | 11/20 | - | 2 |
| 5-74647311-G-C | c.1252G>C | p.G418R | Missense | 11/20 | - | 1 |
| 5-74647311-G-T | c.1252G>T | p.G418C | Missense | 11/20 | - | 1 |
| 5-74647314-A-T | c.1255A>T | p.N419Y | Missense | 11/20 | - | 2 |
| 5-74647318-C-A | c.1259C>A | p.S420Y | Missense | 11/20 | - | 1 |
| 5-74647318-C-T | c.1259C>T | p.S420F | Missense | 11/20 | - | 1 |
| 5-74647319-C-T | c.1260C>T | p.S420= | Synonymous | 11/20 | - | 1 |
| 5-74647329-G-A | c.1270G>A | p.D424N | Missense | 11/20 | - | 2 |
| 5-74647333-CT-TG | c.1274_1275delinsTG | p.T425M | Missense | 11/20 | - | 1 |
| 5-74647338-TC-GG | c.1279_1280delinsGG | p.S427G | Missense | 11/20 | - | 1 |
| 5-74647339-CA-AT | c.1280_1281delinsAT | p.S427Y | Missense | 11/20 | - | 1 |
| 5-74647339-CA-TT | c.1280_1281delinsTT | p.S427F | Missense | 11/20 | - | 1 |
| 5-74647341-GTAC-G | c.1284_1286del | p.L429del | InFrameDeletion | 11/20 | - | 1 |
| 5-74647353-C-T | c.1294C>T | p.Q432* | Nonsense | 11/20 | - | 1 |
| 5-74647356-G-A | c.1297G>A | p.E433K | Missense | 11/20 | - | 3 |
| 5-74647360-C-T | c.1301C>T | p.P434L | Missense | 11/20 | - | 1 |
| 5-74647362-G-A | c.1303G>A | p.E435K | Missense | 11/20 | - | 1 |
| 5-74647374-C-T | c.1315C>T | p.P439S | Missense | 11/20 | - | 5 |
| 5-74647377-AG-CA | c.1318_1319delinsCA | p.R440Q | Missense | 11/20 | - | 1 |
| 5-74647377-AG-CC | c.1318_1319delinsCC | p.R440P | Missense | 11/20 | - | 1 |
| 5-74647384-C-T | c.1325C>T | p.P442L | Missense | 11/20 | - | 5 |
| 5-74647386-C-A | c.1327C>A | p.R443= | Synonymous | 11/20 | - | 1 |
| 5-74647386-CG-AT | c.1327_1328delinsAT | p.R443M | Missense | 11/20 | - | 1 |
| 5-74647388-G-A | c.1329G>A | p.R443= | Synonymous | 11/20 | - | 1 |
| 5-74647388-G-C | c.1329G>C | p.R443= | Synonymous | 11/20 | - | 1 |
| 5-74647388-G-T | c.1329G>T | p.R443= | Synonymous | 11/20 | - | 2 |
| 5-74647391-T-C | c.1332T>C | p.P444= | Synonymous | 11/20 | - | 1 |
| 5-74647393-A-T | c.1334A>T | p.N445I | Missense | 11/20 | - | 1 |
| 5-74647395-G-A | c.1336G>A | p.E446K | Missense | 11/20 | - | 4 |
| 5-74647398-G-T | c.1339G>T | p.E447* | Nonsense | 11/20 | - | 1 |
| 5-74647409-G-C | c.1350G>C | p.Q450H | Missense | 11/20 | - | 1 |
| 5-74647409-G-T | c.1350G>T | p.Q450H | Missense | 11/20 | - | 1 |
| 5-74647418-G-A | c.1359G>A | p.G453= | Synonymous | 11/20 | - | 2 |
| 5-74647418-G-C | c.1359G>C | p.G453= | Synonymous | 11/20 | - | 1 |
| 5-74647418-G-T | c.1359G>T | p.G453= | Synonymous | 11/20 | - | 1 |
| 5-74647423-C-A | c.1364C>A | p.A455E | Missense | 11/20 | - | 1 |
| 5-74647796-A-C | c.1368+369A>C | - | IntronicSNV | - | 11/19 | 1 |
| 5-74647796-A-G | c.1368+369A>G | - | IntronicSNV | - | 11/19 | 1 |
| 5-74647981-C-G | c.1368+554C>G | - | IntronicSNV | - | 11/19 | 1 |
| 5-74648398-G-A | c.1368+971G>A | - | IntronicSNV | - | 11/19 | 1 |
| 5-74648398-G-C | c.1368+971G>C | - | IntronicSNV | - | 11/19 | 1 |
| 5-74648496-G-T | c.1368+1069G>T | - | IntronicSNV | - | 11/19 | 32 |
| 5-74648603-A-T | c.1368+1176A>T | - | IntronicSNV | - | 11/19 | 58 |
| 5-74649285-C-T | c.1369-1043C>T | - | IntronicSNV | - | 11/19 | 2 |
| 5-74649498-C-T | c.1369-830C>T | - | IntronicSNV | - | 11/19 | 2 |
| 5-74650106-C-G | c.1369-222C>G | - | IntronicSNV | - | 11/19 | 2 |
| 5-74650106-C-T | c.1369-222C>T | - | IntronicSNV | - | 11/19 | 2 |
| 5-74650331-G-A | c.1372G>A | p.G458S | Missense | 12/20 | - | 1 |
| 5-74650333-T-C | c.1374T>C | p.G458= | Synonymous | 12/20 | - | 1 |
| 5-74650335-C-T | c.1376C>T | p.A459V | Missense | 12/20 | - | 2 |
| 5-74650341-T-C | c.1382T>C | p.F461S | Missense | 12/20 | - | 1 |
| 5-74650343-C-G | c.1384C>G | p.L462V | Missense | 12/20 | - | 1 |
| 5-74650343-C-T | c.1384C>T | p.L462F | Missense | 12/20 | - | 3 |
| 5-74650360-C-A | c.1401C>A | p.I467= | Synonymous | 12/20 | - | 2 |
| 5-74650360-C-T | c.1401C>T | p.I467= | Synonymous | 12/20 | - | 3 |
| 5-74650382-C-T | c.1423C>T | p.H475Y | Missense | 12/20 | - | 1 |
| 5-74650386-T-A | c.1427T>A | p.I476N | Missense | 12/20 | - | 1 |
| 5-74650393-C-A | c.1434C>A | p.A478= | Synonymous | 12/20 | - | 1 |
| 5-74650393-C-G | c.1434C>G | p.A478= | Synonymous | 12/20 | - | 1 |
| 5-74650393-C-T | c.1434C>T | p.A478= | Synonymous | 12/20 | - | 1 |
| 5-74650400-T-C | c.1441T>C | p.L481= | Synonymous | 12/20 | - | 1 |
| 5-74650400-TT-CC | c.1441_1442delinsCC | p.L481P | Missense | 12/20 | - | 1 |
| 5-74650402-G-A | c.1443G>A | p.L481= | Synonymous | 12/20 | - | 1 |
| 5-74650426-G-A | c.1467G>A | p.E489= | Synonymous | 12/20 | - | 1 |
| 5-74650427-C-T | c.1468C>T | p.R490C | Missense | 12/20 | - | 2 |
| 5-74650428-G-A | c.1469G>A | p.R490H | Missense | 12/20 | - | 2 |
| 5-74650434-T-A | c.1475T>A | p.V492E | Missense | 12/20 | - | 1 |
| 5-74650434-T-C | c.1475T>C | p.V492A | Missense | 12/20 | - | 3 |
| 5-74650438-T-A | c.1479T>A | p.S493= | Synonymous | 12/20 | - | 1 |
| 5-74650438-T-C | c.1479T>C | p.S493= | Synonymous | 12/20 | - | 1 |
| 5-74650438-T-G | c.1479T>G | p.S493= | Synonymous | 12/20 | - | 1 |
| 5-74650442-C-T | c.1483C>T | p.R495C | Missense | 12/20 | - | 1 |
| 5-74650443-G-A | c.1484G>A | p.R495H | Missense | 12/20 | - | 3 |
| 5-74650445-C-T | c.1486C>T | p.R496* | Nonsense | 12/20 | - | 1 |
| 5-74650446-G-A | c.1487G>A | p.R496Q | Missense | 12/20 | - | 3 |
| 5-74650449-A-C | c.1490A>C | p.Q497P | Missense | 12/20 | - | 1 |
| 5-74650455-T-A | c.1496T>A | p.L499H | Missense | 12/20 | - | 1 |
| 5-74650456-T-C | c.1497T>C | p.L499= | Synonymous | 12/20 | - | 2 |
| 5-74650468-T-A | c.1509T>A | p.L503= | Synonymous | 12/20 | - | 1 |
| 5-74650468-T-C | c.1509T>C | p.L503= | Synonymous | 12/20 | - | 1 |
| 5-74650468-T-G | c.1509T>G | p.L503= | Synonymous | 12/20 | - | 1 |
| 5-74650471-A-C | c.1512A>C | p.S504= | Synonymous | 12/20 | - | 1 |
| 5-74650471-A-G | c.1512A>G | p.S504= | Synonymous | 12/20 | - | 2 |
| 5-74650471-A-T | c.1512A>T | p.S504= | Synonymous | 12/20 | - | 1 |
| 5-74650475-C-T | c.1516C>T | p.P506S | Missense | 12/20 | - | 1 |
| 5-74650476-C-T | c.1517C>T | p.P506L | Missense | 12/20 | - | 1 |
| 5-74650479-C-A | c.1520C>A | p.S507Y | Missense | 12/20 | - | 1 |
| 5-74650480-T-G | c.1521T>G | p.S507= | Synonymous | 12/20 | - | 1 |
| 5-74650475-CCTT-C | c.1522_1524del | p.S508del | InFrameDeletion | 12/20 | - | 1 |
| 5-74650482-C-T | c.1523C>T | p.S508F | Missense | 12/20 | - | 1 |
| 5-74650486-C-A | c.1527C>A | p.L509= | Synonymous | 12/20 | - | 2 |
| 5-74650486-C-G | c.1527C>G | p.L509= | Synonymous | 12/20 | - | 2 |
| 5-74650486-C-T | c.1527C>T | p.L509= | Synonymous | 12/20 | - | 2 |
| 5-74650510-T-C | c.1551T>C | p.Y517= | Synonymous | 12/20 | - | 3 |
| 5-74650522-G-C | c.1563G>C | p.L521F | Missense | 12/20 | - | 1 |
| 5-74650522-G-T | c.1563G>T | p.L521F | Missense | 12/20 | - | 1 |
| 5-74650523-G-A | c.1563+1G>A | - | IntronicSNV | - | 12/19 | 1 |
| 5-74650884-A-G | c.1567A>G | p.M523V | Missense | 13/20 | - | 1 |
| 5-74650888-G-C | c.1571G>C | p.G524A | Missense | 13/20 | - | 1 |
| 5-74650890-G-T | c.1573G>T | p.A525S | Missense | 13/20 | - | 1 |
| 5-74650893-T-A | c.1576T>A | p.C526S | Missense | 13/20 | - | 1 |
| 5-74650894-G-C | c.1577G>C | p.C526S | Missense | 13/20 | - | 1 |
| 5-74650897-G-A | c.1580G>A | p.C527Y | Missense | 13/20 | - | 1 |
| 5-74650897-G-T | c.1580G>T | p.C527F | Missense | 13/20 | - | 1 |
| 5-74650899-G-A | c.1582G>A | p.E528K | Missense | 13/20 | - | 1 |
| 5-74650905-GTT-ATG | c.1588_1590delinsATG | p.V530M | Missense | 13/20 | - | 1 |
| 5-74650912-G-T | c.1595G>T | p.G532V | Missense | 13/20 | - | 1 |
| 5-74650914-T-A | c.1597T>A | p.Y533N | Missense | 13/20 | - | 1 |
| 5-74650921-C-G | c.1604C>G | p.P535R | Missense | 13/20 | - | 1 |
| 5-74650932-G-A | c.1615G>A | p.G539R | Missense | 13/20 | - | 1 |
| 5-74650940-A-AG | c.1625dup | p.P543Tfs*6 | Frameshift | 13/20 | - | 1 |
| 5-74650942-G-A | c.1625G>A | p.G542E | Missense | 13/20 | - | 1 |
| 5-74650947-C-A | c.1630C>A | p.L544I | Missense | 13/20 | - | 1 |
| 5-74650948-T-C | c.1631T>C | p.L544P | Missense | 13/20 | - | 1 |
| 5-74650957-A-T | c.1640A>T | p.D547V | Missense | 13/20 | - | 1 |
| 5-74650964-A-G | c.1647A>G | p.K549= | Synonymous | 13/20 | - | 2 |
| 5-74650965-G-T | c.1648G>T | p.E550* | Nonsense | 13/20 | - | 1 |
| 5-74650967-A-C | c.1650A>C | p.E550D | Missense | 13/20 | - | 2 |
| 5-74650967-A-T | c.1650A>T | p.E550D | Missense | 13/20 | - | 3 |
| 5-74650980-A-G | c.1663A>G | p.M555V | Missense | 13/20 | - | 1 |
| 5-74650989-A-G | c.1672A>G | p.T558A | Missense | 13/20 | - | 1 |
| 5-74650995-GG-TA | c.1678_1679delinsTA | p.G560Y | Missense | 13/20 | - | 1 |
| 5-74650996-G-C | c.1679G>C | p.G560A | Missense | 13/20 | - | 1 |
| 5-74650997-T-C | c.1680T>C | p.G560= | Synonymous | 13/20 | - | 1 |
| 5-74651010-A-G | c.1693A>G | p.S565G | Missense | 13/20 | - | 1 |
| 5-74651011-G-A | c.1694G>A | p.S565N | Missense | 13/20 | - | 2 |
| 5-74651017-A-G | c.1700A>G | p.N567S | Missense | 13/20 | - | 1 |
| 5-74651018-AT-A | c.1701del | p.N567Kfs*7 | Frameshift | 13/20 | - | 1 |
| 5-74651028-AGA-CAT | c.1711_1713delinsCAT | p.R571H | Missense | 13/20 | - | 1 |
| 5-74651084-A-G | c.1722+45A>G | - | IntronicSNV | - | 13/19 | 118 |
| 5-74651200-G-T | c.1733G>T | p.G578V | Missense | 14/20 | - | 1 |
| 5-74651205-A-C | c.1738A>C | p.S580R | Missense | 14/20 | - | 2 |
| 5-74651207-C-A | c.1740C>A | p.S580R | Missense | 14/20 | - | 3 |
| 5-74651207-C-G | c.1740C>G | p.S580R | Missense | 14/20 | - | 2 |
| 5-74651207-C-T | c.1740C>T | p.S580= | Synonymous | 14/20 | - | 1 |
| 5-74651211-C-T | c.1744C>T | p.R582* | Nonsense | 14/20 | - | 1 |
| 5-74651212-G-A | c.1745G>A | p.R582Q | Missense | 14/20 | - | 1 |
| 5-74651220-G-C | c.1753G>C | p.A585P | Missense | 14/20 | - | 1 |
| 5-74651221-C-T | c.1754C>T | p.A585V | Missense | 14/20 | - | 1 |
| 5-74651222-A-G | c.1755A>G | p.A585= | Synonymous | 14/20 | - | 2 |
| 5-74651223-G-A | c.1756G>A | p.D586N | Missense | 14/20 | - | 1 |
| 5-74651228-G-A | c.1761G>A | p.G587= | Synonymous | 14/20 | - | 1 |
| 5-74651228-G-C | c.1761G>C | p.G587= | Synonymous | 14/20 | - | 1 |
| 5-74651228-G-T | c.1761G>T | p.G587= | Synonymous | 14/20 | - | 1 |
| 5-74651235-C-T | c.1768C>T | p.R590C | Missense | 14/20 | - | 5 |
| 5-74651236-G-A | c.1769G>A | p.R590H | Missense | 14/20 | - | 1 |
| 5-74651239-G-A | c.1772G>A | p.G591D | Missense | 14/20 | - | 1 |
| 5-74651240-C-T | c.1773C>T | p.G591= | Synonymous | 14/20 | - | 1 |
| 5-74651250-C-T | c.1783C>T | p.R595C | Missense | 14/20 | - | 4 |
| 5-74651251-G-A | c.1784G>A | p.R595H | Missense | 14/20 | - | 1 |
| 5-74651251-G-C | c.1784G>C | p.R595P | Missense | 14/20 | - | 1 |
| 5-74651253-C-T | c.1786C>T | p.L596F | Missense | 14/20 | - | 1 |
| 5-74651254-T-C | c.1787T>C | p.L596P | Missense | 14/20 | - | 1 |
| 5-74651260-G-A | c.1793G>A | p.R598H | Missense | 14/20 | - | 2 |
| 5-74651274-G-A | c.1807G>A | p.A603T | Missense | 14/20 | - | 3 |
| 5-74651274-G-T | c.1807G>T | p.A603S | Missense | 14/20 | - | 2 |
| 5-74651275-C-G | c.1808C>G | p.A603G | Missense | 14/20 | - | 1 |
| 5-74651282-G-A | c.1815G>A | p.V605= | Synonymous | 14/20 | - | 3 |
| 5-74651286-G-A | c.1819G>A | p.A607T | Missense | 14/20 | - | 1 |
| 5-74651288-C-G | c.1821C>G | p.A607= | Synonymous | 14/20 | - | 1 |
| 5-74651290-G-A | c.1823G>A | p.W608* | Nonsense | 14/20 | - | 1 |
| 5-74651290-G-C | c.1823G>C | p.W608S | Missense | 14/20 | - | 1 |
| 5-74651292-C-T | c.1825C>T | p.L609F | Missense | 14/20 | - | 1 |
| 5-74651294-C-A | c.1827C>A | p.L609= | Synonymous | 14/20 | - | 1 |
| 5-74651294-C-G | c.1827C>G | p.L609= | Synonymous | 14/20 | - | 1 |
| 5-74651294-C-T | c.1827C>T | p.L609= | Synonymous | 14/20 | - | 1 |
| 5-74651295-G-A | c.1828G>A | p.E610K | Missense | 14/20 | - | 2 |
| 5-74651310-T-C | c.1843T>C | p.F615L | Missense | 14/20 | - | 1 |
| 5-74651312-C-T | c.1845C>T | p.F615= | Synonymous | 14/20 | - | 2 |
| 5-74651313-G-A | c.1846G>A | p.A616T | Missense | 14/20 | - | 2 |
| 5-74651315-A-C | c.1848A>C | p.A616= | Synonymous | 14/20 | - | 1 |
| 5-74651315-A-G | c.1848A>G | p.A616= | Synonymous | 14/20 | - | 1 |
| 5-74651315-A-T | c.1848A>T | p.A616= | Synonymous | 14/20 | - | 1 |
| 5-74651316-GTG-TTT | c.1849_1851delinsTTT | p.V617F | Missense | 14/20 | - | 1 |
| 5-74651325-G-A | c.1858G>A | p.E620K | Missense | 14/20 | - | 2 |
| 5-74651335-A-C | c.1868A>C | p.D623A | Missense | 14/20 | - | 4 |
| 5-74651556-C-G | c.1880+209C>G | - | IntronicSNV | - | 14/19 | 1 |
| 5-74651864-G-A | c.1881-304G>A | - | IntronicSNV | - | 14/19 | 5 |
| 5-74651909-G-A | c.1881-259G>A | - | IntronicSNV | - | 14/19 | 3 |
| 5-74651909-G-C | c.1881-259G>C | - | IntronicSNV | - | 14/19 | 3 |
| 5-74652059-C-T | c.1881-109C>T | - | IntronicSNV | - | 14/19 | 2 |
| 5-74652173-C-T | c.1886C>T | p.A629V | Missense | 15/20 | - | 1 |
| 5-74652174-A-G | c.1887A>G | p.A629= | Synonymous | 15/20 | - | 1 |
| 5-74652175-CG-AT | c.1888_1889delinsAT | p.R630I | Missense | 15/20 | - | 1 |
| 5-74652176-G-A | c.1889G>A | p.R630H | Missense | 15/20 | - | 1 |
| 5-74652176-G-T | c.1889G>T | p.R630L | Missense | 15/20 | - | 6 |
| 5-74652181-C-A | c.1894C>A | p.Q632K | Missense | 15/20 | - | 3 |
| 5-74652199-A-G | c.1912A>G | p.I638V | Missense | 15/20 | - | 24 |
| 5-74652203-C-T | c.1916C>T | p.A639V | Missense | 15/20 | - | 1 |
| 5-74652208-C-T | c.1921C>T | p.R641C | Missense | 15/20 | - | 2 |
| 5-74652209-G-A | c.1922G>A | p.R641H | Missense | 15/20 | - | 2 |
| 5-74652220-A-C | c.1933A>C | p.I645L | Missense | 15/20 | - | 1 |
| 5-74652224-G-A | c.1937G>A | p.R646H | Missense | 15/20 | - | 3 |
| 5-74652229-C-T | c.1942C>T | p.Q648* | Nonsense | 15/20 | - | 1 |
| 5-74652230-A-G | c.1943A>G | p.Q648R | Missense | 15/20 | - | 1 |
| 5-74652235-A-T | c.1948A>T | p.R650W | Missense | 15/20 | - | 1 |
| 5-74652243-G-GT | c.1956_1957insT | p.D653* | Nonsense | 15/20 | - | 1 |
| 5-74652253-G-A | c.1966G>A | p.G656R | Missense | 15/20 | - | 1 |
| 5-74652253-G-C | c.1966G>C | p.G656R | Missense | 15/20 | - | 1 |
| 5-74652254-G-A | c.1967G>A | p.G656E | Missense | 15/20 | - | 1 |
| 5-74652258-G-A | c.1971G>A | p.M657I | Missense | 15/20 | - | 1 |
| 5-74652258-G-C | c.1971G>C | p.M657I | Missense | 15/20 | - | 1 |
| 5-74652258-G-T | c.1971G>T | p.M657I | Missense | 15/20 | - | 1 |
| 5-74652274-G-A | c.1986+1G>A | - | IntronicSNV | - | 15/19 | 1 |
| 5-74652326-T-G | c.1986+53T>G | - | IntronicSNV | - | 15/19 | 2 |
| 5-74652329-A-T | c.1986+56A>T | - | IntronicSNV | - | 15/19 | 1 |
| 5-74652622-TA-T | c.1986+358del | - | IntronicDeletion | - | 15/19 | 1 |
| 5-74652762-G-A | c.1986+489G>A | - | IntronicSNV | - | 15/19 | 1 |
| 5-74653357-A-T | c.1986+1084A>T | - | IntronicSNV | - | 15/19 | 1 |
| 5-74653462-T-G | c.1987-1020T>G | - | IntronicSNV | - | 15/19 | 2 |
| 5-74654482-G-T | c.1987G>T | p.G663C | Missense | 16/20 | - | 3 |
| 5-74654483-G-A | c.1988G>A | p.G663D | Missense | 16/20 | - | 1 |
| 5-74654483-G-C | c.1988G>C | p.G663A | Missense | 16/20 | - | 2 |
| 5-74654495-C-T | c.2000C>T | p.A667V | Missense | 16/20 | - | 1 |
| 5-74654499-T-C | c.2004T>C | p.L668= | Synonymous | 16/20 | - | 1 |
| 5-74654502-A-C | c.2007A>C | p.S669= | Synonymous | 16/20 | - | 1 |
| 5-74654502-A-G | c.2007A>G | p.S669= | Synonymous | 16/20 | - | 1 |
| 5-74654502-A-T | c.2007A>T | p.S669= | Synonymous | 16/20 | - | 1 |
| 5-74654509-C-A | c.2014C>A | p.H672N | Missense | 16/20 | - | 3 |
| 5-74654512-G-C | c.2017G>C | p.E673Q | Missense | 16/20 | - | 1 |
| 5-74654517-T-C | c.2022T>C | p.Y674= | Synonymous | 16/20 | - | 1 |
| 5-74654520-C-T | c.2025C>T | p.F675= | Synonymous | 16/20 | - | 1 |
| 5-74654524-G-T | c.2029G>T | p.E677* | Nonsense | 16/20 | - | 1 |
| 5-74654527-A-C | c.2032A>C | p.M678L | Missense | 16/20 | - | 2 |
| 5-74654527-A-T | c.2032A>T | p.M678L | Missense | 16/20 | - | 1 |
| 5-74654541-C-T | c.2046C>T | p.A682= | Synonymous | 16/20 | - | 1 |
| 5-74654542-G-A | c.2047G>A | p.V683I | Missense | 16/20 | - | 1 |
| 5-74654547-T-C | c.2052T>C | p.S684= | Synonymous | 16/20 | - | 1 |
| 5-74654559-T-G | c.2064T>G | p.C688W | Missense | 16/20 | - | 1 |
| 5-74654568-G-A | c.2073G>A | p.K691= | Synonymous | 16/20 | - | 1 |
| 5-74654578-G-A | c.2083G>A | p.A695T | Missense | 16/20 | - | 1 |
| 5-74654587-T-G | c.2092T>G | p.W698G | Missense | 16/20 | - | 1 |
| 5-74654591-T-C | c.2096T>C | p.I699T | Missense | 16/20 | - | 2 |
| 5-74654597-G-C | c.2102G>C | p.G701A | Missense | 16/20 | - | 1 |
| 5-74654608-T-G | c.2113T>G | p.S705A | Missense | 16/20 | - | 1 |
| 5-74654610-T-G | c.2115T>G | p.S705= | Synonymous | 16/20 | - | 1 |
| 5-74654611-G-C | c.2116G>C | p.V706L | Missense | 16/20 | - | 1 |
| 5-74654623-G-T | c.2128G>T | p.A710S | Missense | 16/20 | - | 1 |
| 5-74654625-T-A | c.2130T>A | p.A710= | Synonymous | 16/20 | - | 1 |
| 5-74654627-T-C | c.2132T>C | p.V711A | Missense | 16/20 | - | 1 |
| 5-74654628-C-A | c.2133C>A | p.V711= | Synonymous | 16/20 | - | 1 |
| 5-74654628-C-G | c.2133C>G | p.V711= | Synonymous | 16/20 | - | 1 |
| 5-74654628-C-T | c.2133C>T | p.V711= | Synonymous | 16/20 | - | 1 |
| 5-74654635-G-T | c.2140G>T | p.A714S | Missense | 16/20 | - | 1 |
| 5-74654639-A-G | c.2144A>G | p.K715R | Missense | 16/20 | - | 1 |
| 5-74654639-A-T | c.2144A>T | p.K715M | Missense | 16/20 | - | 1 |
| 5-74654641-G-T | c.2146G>T | p.V716F | Missense | 16/20 | - | 1 |
| 5-74654648-G-A | c.2153G>A | p.R718K | Missense | 16/20 | - | 1 |
| 5-74654779-A-T | c.2157+127A>T | - | IntronicSNV | - | 16/19 | 4 |
| 5-74655012-A-G | c.2175A>G | p.T725= | Synonymous | 17/20 | - | 1 |
| 5-74655021-G-A | c.2184G>A | p.M728I | Missense | 17/20 | - | 2 |
| 5-74655021-G-C | c.2184G>C | p.M728I | Missense | 17/20 | - | 3 |
| 5-74655021-G-T | c.2184G>T | p.M728I | Missense | 17/20 | - | 2 |
| 5-74655025-G-A | c.2188G>A | p.E730K | Missense | 17/20 | - | 1 |
| 5-74655026-A-T | c.2189A>T | p.E730V | Missense | 17/20 | - | 1 |
| 5-74655059-C-T | c.2222C>T | p.A741V | Missense | 17/20 | - | 1 |
| 5-74655062-T-C | c.2225T>C | p.M742T | Missense | 17/20 | - | 1 |
| 5-74655064-G-A | c.2227G>A | p.A743T | Missense | 17/20 | - | 2 |
| 5-74655075-A-G | c.2238A>G | p.I746M | Missense | 17/20 | - | 2 |
| 5-74655086-A-G | c.2249A>G | p.N750S | Missense | 17/20 | - | 1 |
| 5-74655086-A-T | c.2249A>T | p.N750I | Missense | 17/20 | - | 1 |
| 5-74655087-C-T | c.2250C>T | p.N750= | Synonymous | 17/20 | - | 2 |
| 5-74655088-G-A | c.2251G>A | p.A751T | Missense | 17/20 | - | 3 |
| 5-74655092-A-G | c.2255A>G | p.H752R | Missense | 17/20 | - | 2 |
| 5-74655094-G-T | c.2257G>T | p.A753S | Missense | 17/20 | - | 3 |
| 5-74655097-G-C | c.2260G>C | p.A754P | Missense | 17/20 | - | 1 |
| 5-74655105-T-G | c.2268T>G | p.I756M | Missense | 17/20 | - | 1 |
| 5-74655106-G-A | c.2269G>A | p.V757I | Missense | 17/20 | - | 1 |
| 5-74655119-A-G | c.2282A>G | p.Y761C | Missense | 17/20 | - | 1 |
| 5-74655122-T-C | c.2285T>C | p.I762T | Missense | 17/20 | - | 1 |
| 5-74655130-GGA-TGT | c.2293_2295delinsTGT | p.G765C | Missense | 17/20 | - | 1 |
| 5-74655134-A-G | c.2297A>G | p.Q766R | Missense | 17/20 | - | 3 |
| 5-74655169-C-G | c.2298+34C>G | - | IntronicSNV | - | 17/19 | 1 |
| 5-74655169-C-T | c.2298+34C>T | - | IntronicSNV | - | 17/19 | 1 |
| 5-74655234-G-A | c.2310G>A | p.Q770= | Synonymous | 18/20 | - | 1 |
| 5-74655252-CTG-C | c.2330_2331del | p.C777Yfs*12 | Frameshift | 18/20 | - | 1 |
| 5-74655258-T-A | c.2334T>A | p.I778= | Synonymous | 18/20 | - | 1 |
| 5-74655258-T-C | c.2334T>C | p.I778= | Synonymous | 18/20 | - | 2 |
| 5-74655281-C-T | c.2357C>T | p.P786L | Missense | 18/20 | - | 1 |
| 5-74655289-G-A | c.2365G>A | p.E789K | Missense | 18/20 | - | 1 |
| 5-74655292-G-T | c.2368G>T | p.D790Y | Missense | 18/20 | - | 1 |
| 5-74655299-A-G | c.2375A>G | p.Y792C | Missense | 18/20 | - | 1 |
| 5-74655302-T-C | c.2378T>C | p.I793T | Missense | 18/20 | - | 1 |
| 5-74655320-C-T | c.2396C>T | p.S799F | Missense | 18/20 | - | 1 |
| 5-74655336-G-A | c.2412G>A | p.T804= | Synonymous | 18/20 | - | 1 |
| 5-74655338-T-C | c.2414T>C | p.V805A | Missense | 18/20 | - | 1 |
| 5-74655341-G-A | c.2417G>A | p.G806D | Missense | 18/20 | - | 1 |
| 5-74655349-A-C | c.2425A>C | p.T809P | Missense | 18/20 | - | 1 |
| 5-74655350-C-A | c.2426C>A | p.T809N | Missense | 18/20 | - | 1 |
| 5-74655364-C-T | c.2440C>T | p.Q814* | Nonsense | 18/20 | - | 2 |
| 5-74655369-A-C | c.2445A>C | p.Q815H | Missense | 18/20 | - | 1 |
| 5-74655369-A-T | c.2445A>T | p.Q815H | Missense | 18/20 | - | 1 |
| 5-74655372-C-T | c.2448C>T | p.A816= | Synonymous | 18/20 | - | 1 |
| 5-74655373-TG-AC | c.2449_2450delinsAC | p.C817T | Missense | 18/20 | - | 1 |
| 5-74655451-C-T | c.2457+70C>T | - | IntronicSNV | - | 18/19 | 9 |
| 5-74655498-T-G | c.2457+117T>G | - | IntronicSNV | - | 18/19 | 43 |
| 5-74655631-A-G | c.2458-179A>G | - | IntronicSNV | - | 18/19 | 1 |
| 5-74655726-C-T | c.2458-84C>T | - | IntronicSNV | - | 18/19 | 44 |
| 5-74655801-T-C | c.2458-9T>C | - | IntronicSNV | - | 18/19 | 1 |
| 5-74655819-GTT-ATG | c.2467_2469delinsATG | p.V823M | Missense | 19/20 | - | 1 |
| 5-74655822-C-A | c.2470C>A | p.Q824K | Missense | 19/20 | - | 1 |
| 5-74655824-A-G | c.2472A>G | p.Q824= | Synonymous | 19/20 | - | 1 |
| 5-74655825-G-A | c.2473G>A | p.G825R | Missense | 19/20 | - | 1 |
| 5-74655826-G-A | c.2474G>A | p.G825E | Missense | 19/20 | - | 1 |
| 5-74655826-G-T | c.2474G>T | p.G825V | Missense | 19/20 | - | 1 |
| 5-74655828-G-A | c.2476G>A | p.A826T | Missense | 19/20 | - | 1 |
| 5-74655836-A-C | c.2484A>C | p.K828N | Missense | 19/20 | - | 1 |
| 5-74655836-A-T | c.2484A>T | p.K828N | Missense | 19/20 | - | 1 |
| 5-74655841-A-G | c.2489A>G | p.N830S | Missense | 19/20 | - | 1 |
| 5-74655844-C-A | c.2492C>A | p.P831H | Missense | 19/20 | - | 2 |
| 5-74655856-C-T | c.2504C>T | p.A835V | Missense | 19/20 | - | 1 |
| 5-74655858-C-A | c.2506C>A | p.R836= | Synonymous | 19/20 | - | 1 |
| 5-74655858-C-T | c.2506C>T | p.R836W | Missense | 19/20 | - | 2 |
| 5-74655860-G-A | c.2508G>A | p.R836= | Synonymous | 19/20 | - | 1 |
| 5-74655860-G-C | c.2508G>C | p.R836= | Synonymous | 19/20 | - | 1 |
| 5-74655860-G-T | c.2508G>T | p.R836= | Synonymous | 19/20 | - | 1 |
| 5-74655859-G-A | c.2507G>A | p.R836Q | Missense | 19/20 | - | 1 |
| 5-74655868-C-T | c.2516C>T | p.A839V | Missense | 19/20 | - | 1 |
| 5-74655870-C-T | c.2518C>T | p.R840* | Nonsense | 19/20 | - | 1 |
| 5-74655871-G-A | c.2519G>A | p.R840Q | Missense | 19/20 | - | 3 |
| 5-74655880-G-A | c.2528G>A | p.C843Y | Missense | 19/20 | - | 1 |
| 5-74655881-T-C | c.2529T>C | p.C843= | Synonymous | 19/20 | - | 1 |
| 5-74655883-GG-AC | c.2531_2532delinsAC | p.G844D | Missense | 19/20 | - | 1 |
| 5-74655887-C-A | c.2535C>A | p.T845= | Synonymous | 19/20 | - | 1 |
| 5-74655887-C-G | c.2535C>G | p.T845= | Synonymous | 19/20 | - | 1 |
| 5-74655887-C-T | c.2535C>T | p.T845= | Synonymous | 19/20 | - | 2 |
| 5-74655888-G-A | c.2536G>A | p.V846I | Missense | 19/20 | - | 2 |
| 5-74655889-T-C | c.2537T>C | p.V846A | Missense | 19/20 | - | 3 |
| 5-74655898-G-T | c.2546G>T | p.G849V | Missense | 19/20 | - | 5 |
| 5-74655906-T-C | c.2554T>C | p.S852P | Missense | 19/20 | - | 1 |
| 5-74655910-T-C | c.2558T>C | p.L853P | Missense | 19/20 | - | 1 |
| 5-74655913-T-C | c.2561T>C | p.M854T | Missense | 19/20 | - | 1 |
| 5-74655915-G-A | c.2563G>A | p.A855T | Missense | 19/20 | - | 1 |
| 5-74655919-C-G | c.2567C>G | p.A856G | Missense | 19/20 | - | 1 |
| 5-74655921-T-C | c.2569T>C | p.L857= | Synonymous | 19/20 | - | 1 |
| 5-74655927-G-A | c.2575G>A | p.A859T | Missense | 19/20 | - | 1 |
| 5-74655936-C-CT | c.2586dup | p.V863Cfs*42 | Frameshift | 19/20 | - | 1 |
| 5-74655951-A-G | c.2599A>G | p.M867V | Missense | 19/20 | - | 1 |
| 5-74655964-G-T | c.2612G>T | p.R871M | Missense | 19/20 | - | 1 |
| 5-74656123-A-C | c.2623A>C | p.N875H | Missense | 20/20 | - | 1 |
| 5-74656133-A-G | c.2633A>G | p.D878G | Missense | 20/20 | - | 1 |
| 5-74656141-G-A | c.2641G>A | p.G881R | Missense | 20/20 | - | 1 |
| 5-74656141-G-C | c.2641G>C | p.G881R | Missense | 20/20 | - | 1 |
| 5-74656147-T-C | c.2647T>C | p.C883R | Missense | 20/20 | - | 2 |
| 5-74656156-A-G | c.2656A>G | p.K886E | Missense | 20/20 | - | 1 |
| 5-74656175-G-A | c.*8G>A | - | 3-UTRSNV | 20/20 | - | 22 |
| 5-74656248-A-G | c.*81A>G | - | 3-UTRSNV | 20/20 | - | 1 |
| 5-74656274-G-A | c.*107G>A | - | 3-UTRSNV | 20/20 | - | 3 |
| 5-74656539-T-C | c.*372T>C | - | 3-UTRSNV | 20/20 | - | 109 |
| 5-74656539-T-G | c.*372T>G | - | 3-UTRSNV | 20/20 | - | 109 |
| 5-74656664-T-C | c.*497T>C | - | 3-UTRSNV | 20/20 | - | 1 |
| 5-74657280-T-C | c.*1113T>C | - | 3-UTRSNV | 20/20 | - | 2 |
| 5-74657284-T-A | c.*1117T>A | - | 3-UTRSNV | 20/20 | - | 1 |
| 5-74657652-C-G | c.*1485C>G | - | 3-UTRSNV | 20/20 | - | 1 |