| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-206644058-C-G | c.-123+17C>G | - | intron_variant | - | 1/21 | 2 |
| 1-206644058-C-T | c.-123+17C>T | - | intron_variant | - | 1/21 | 2 |
| 1-206646274-G-C | c.-32-265G>C | - | IntronicSNV | - | 2/21 | 1 |
| 1-206646274-G-T | c.-32-265G>T | - | IntronicSNV | - | 2/21 | 1 |
| 1-206646311-C-T | c.-32-228C>T | - | IntronicSNV | - | 2/21 | 2 |
| 1-206643973-A-C | c.-191A>C | - | IntronicSNV | 1/22 | - | 1 |
| 1-206643973-A-T | c.-191A>T | - | IntronicSNV | 1/22 | - | 1 |
| 1-206646427-C-A | c.-32-112C>A | - | IntronicSNV | - | 2/21 | 6 |
| 1-206646427-C-G | c.-32-112C>G | - | IntronicSNV | - | 2/21 | 6 |
| 1-206646555-C-A | c.-16C>A | - | 5-UTRSNV | 3/22 | - | 1 |
| 1-206646555-C-G | c.-16C>G | - | 5-UTRSNV | 3/22 | - | 1 |
| 1-206646574-C-A | c.4C>A | p.Q2K | Missense | 3/22 | - | 1 |
| 1-206646583-G-A | c.13G>A | p.A5T | Missense | 3/22 | - | 1 |
| 1-206646592-C-T | c.22C>T | p.L8= | Synonymous | 3/22 | - | 2 |
| 1-206646594-G-A | c.24G>A | p.L8= | Synonymous | 3/22 | - | 1 |
| 1-206646594-G-T | c.24G>T | p.L8= | Synonymous | 3/22 | - | 1 |
| 1-206646597-G-A | c.27G>A | p.W9* | Nonsense | 3/22 | - | 1 |
| 1-206646607-G-C | c.37G>C | p.D13H | Missense | 3/22 | - | 1 |
| 1-206646609-C-A | c.39C>A | p.D13E | Missense | 3/22 | - | 1 |
| 1-206646609-C-G | c.39C>G | p.D13E | Missense | 3/22 | - | 1 |
| 1-206646612-G-C | c.42G>C | p.L14= | Synonymous | 3/22 | - | 1 |
| 1-206646616-G-T | c.46G>T | p.G16W | Missense | 3/22 | - | 1 |
| 1-206646617-G-T | c.47G>T | p.G16V | Missense | 3/22 | - | 1 |
| 1-206646618-G-A | c.48G>A | p.G16= | Synonymous | 3/22 | - | 2 |
| 1-206646618-G-C | c.48G>C | p.G16= | Synonymous | 3/22 | - | 1 |
| 1-206646618-G-T | c.48G>T | p.G16= | Synonymous | 3/22 | - | 1 |
| 1-206646625-G-C | c.55G>C | p.A19P | Missense | 3/22 | - | 2 |
| 1-206646625-GC-AA | c.55_56delinsAA | p.A19N | Missense | 3/22 | - | 3 |
| 1-206646627-C-A | c.57C>A | p.A19= | Synonymous | 3/22 | - | 1 |
| 1-206646627-C-G | c.57C>G | p.A19= | Synonymous | 3/22 | - | 1 |
| 1-206646627-C-T | c.57C>T | p.A19= | Synonymous | 3/22 | - | 1 |
| 1-206646628-ACT-TAA | c.58_60delinsTAA | p.T20* | Nonsense | 3/22 | - | 1 |
| 1-206646629-C-T | c.59C>T | p.T20I | Missense | 3/22 | - | 1 |
| 1-206646631-G-T | c.61G>T | p.A21S | Missense | 3/22 | - | 1 |
| 1-206646633-C-A | c.63C>A | p.A21= | Synonymous | 3/22 | - | 3 |
| 1-206646633-C-G | c.63C>G | p.A21= | Synonymous | 3/22 | - | 3 |
| 1-206646633-C-T | c.63C>T | p.A21= | Synonymous | 3/22 | - | 3 |
| 1-206646637-G-A | c.67G>A | p.V23M | Missense | 3/22 | - | 1 |
| 1-206646640-T-C | c.70T>C | p.Y24H | Missense | 3/22 | - | 1 |
| 1-206646646-GCC-TAA | c.76_78delinsTAA | p.A26* | Nonsense | 3/22 | - | 1 |
| 1-206646646-GC-TA | c.76_77delinsTA | p.A26Y | Missense | 3/22 | - | 3 |
| 1-206646648-C-T | c.78C>T | p.A26= | Synonymous | 3/22 | - | 1 |
| 1-206646649-C-T | c.79C>T | p.R27C | Missense | 3/22 | - | 3 |
| 1-206646650-G-A | c.80G>A | p.R27H | Missense | 3/22 | - | 2 |
| 1-206646653-A-G | c.83A>G | p.N28S | Missense | 3/22 | - | 1 |
| 1-206646658-G-T | c.87+1G>T | - | IntronicSNV | - | 3/21 | 1 |
| 1-206647218-C-G | c.88-456C>G | - | IntronicSNV | - | 3/21 | 1 |
| 1-206647218-C-T | c.88-456C>T | - | IntronicSNV | - | 3/21 | 1 |
| 1-206647387-T-C | c.88-287T>C | - | IntronicSNV | - | 3/21 | 1 |
| 1-206647387-T-G | c.88-287T>G | - | IntronicSNV | - | 3/21 | 1 |
| 1-206647450-A-G | c.88-224A>G | - | IntronicSNV | - | 3/21 | 5 |
| 1-206647678-C-T | c.92C>T | p.S31F | Missense | 4/22 | - | 5 |
| 1-206647680-G-A | c.94G>A | p.G32R | Missense | 4/22 | - | 4 |
| 1-206647680-G-C | c.94G>C | p.G32R | Missense | 4/22 | - | 2 |
| 1-206647680-GGA-AGC | c.94_96delinsAGC | p.G32S | Missense | 4/22 | - | 1 |
| 1-206647687-T-C | c.101T>C | p.L34P | Missense | 4/22 | - | 1 |
| 1-206647686-C-T | c.100C>T | p.L34= | Synonymous | 4/22 | - | 2 |
| 1-206647688-G-A | c.102G>A | p.L34= | Synonymous | 4/22 | - | 2 |
| 1-206647688-G-C | c.102G>C | p.L34= | Synonymous | 4/22 | - | 2 |
| 1-206647688-G-T | c.102G>T | p.L34= | Synonymous | 4/22 | - | 2 |
| 1-206647692-G-A | c.106G>A | p.A36T | Missense | 4/22 | - | 2 |
| 1-206647693-C-T | c.107C>T | p.A36V | Missense | 4/22 | - | 1 |
| 1-206647694-CT-C | c.108del | p.V37* | Frameshift | 4/22 | - | 1 |
| 1-206647694-T-A | c.108T>A | p.A36= | Synonymous | 4/22 | - | 1 |
| 1-206647694-T-C | c.108T>C | p.A36= | Synonymous | 4/22 | - | 1 |
| 1-206647694-T-G | c.108T>G | p.A36= | Synonymous | 4/22 | - | 1 |
| 1-206647695-G-A | c.109G>A | p.V37M | Missense | 4/22 | - | 1 |
| 1-206647697-G-A | c.111G>A | p.V37= | Synonymous | 4/22 | - | 1 |
| 1-206647697-G-C | c.111G>C | p.V37= | Synonymous | 4/22 | - | 1 |
| 1-206647697-G-T | c.111G>T | p.V37= | Synonymous | 4/22 | - | 1 |
| 1-206647698-AA-GC | c.112_113delinsGC | p.K38A | Missense | 4/22 | - | 12 |
| 1-206647706-C-A | c.120C>A | p.F40L | Missense | 4/22 | - | 1 |
| 1-206647710-A-G | c.124A>G | p.T42A | Missense | 4/22 | - | 4 |
| 1-206647722-C-T | c.136C>T | p.L46= | Synonymous | 4/22 | - | 1 |
| 1-206647723-T-C | c.137T>C | p.L46P | Missense | 4/22 | - | 1 |
| 1-206647725-C-A | c.139C>A | p.R47= | Synonymous | 4/22 | - | 3 |
| 1-206647725-C-T | c.139C>T | p.R47W | Missense | 4/22 | - | 7 |
| 1-206647726-G-A | c.140G>A | p.R47Q | Missense | 4/22 | - | 1 |
| 1-206647729-C-T | c.143C>T | p.P48L | Missense | 4/22 | - | 1 |
| 1-206647731-C-T | c.145C>T | p.R49C | Missense | 4/22 | - | 9 |
| 1-206647732-G-T | c.146G>T | p.R49L | Missense | 4/22 | - | 6 |
| 1-206647733-C-A | c.147C>A | p.R49= | Synonymous | 4/22 | - | 1 |
| 1-206647733-C-G | c.147C>G | p.R49= | Synonymous | 4/22 | - | 1 |
| 1-206647733-C-T | c.147C>T | p.R49= | Synonymous | 4/22 | - | 3 |
| 1-206647734-G-A | c.148G>A | p.E50K | Missense | 4/22 | - | 1 |
| 1-206647736-G-A | c.150G>A | p.E50= | Synonymous | 4/22 | - | 1 |
| 1-206647736-G-C | c.150G>C | p.E50D | Missense | 4/22 | - | 1 |
| 1-206647741-A-G | c.155A>G | p.Q52R | Missense | 4/22 | - | 1 |
| 1-206647742-A-G | c.156A>G | p.Q52= | Synonymous | 4/22 | - | 19 |
| 1-206647745-G-A | c.159G>A | p.V53= | Synonymous | 4/22 | - | 1 |
| 1-206647745-G-C | c.159G>C | p.V53= | Synonymous | 4/22 | - | 1 |
| 1-206647745-G-T | c.159G>T | p.V53= | Synonymous | 4/22 | - | 1 |
| 1-206647748-G-A | c.162G>A | p.R54= | Synonymous | 4/22 | - | 2 |
| 1-206647748-G-C | c.162G>C | p.R54S | Missense | 4/22 | - | 2 |
| 1-206647748-G-T | c.162G>T | p.R54S | Missense | 4/22 | - | 3 |
| 1-206647749-G-A | c.163G>A | p.E55K | Missense | 4/22 | - | 1 |
| 1-206647751-G-A | c.165G>A | p.E55= | Synonymous | 4/22 | - | 1 |
| 1-206647754-T-C | c.168T>C | p.F56= | Synonymous | 4/22 | - | 1 |
| 1-206647755-G-C | c.169G>C | p.E57Q | Missense | 4/22 | - | 1 |
| 1-206647757-G-A | c.171G>A | p.E57= | Synonymous | 4/22 | - | 1 |
| 1-206647759-T-G | c.173T>G | p.V58G | Missense | 4/22 | - | 1 |
| 1-206647760-C-T | c.174C>T | p.V58= | Synonymous | 4/22 | - | 1 |
| 1-206647762-T-C | c.176T>C | p.L59P | Missense | 4/22 | - | 3 |
| 1-206647764-C-G | c.178C>G | p.R60G | Missense | 4/22 | - | 1 |
| 1-206647765-G-A | c.179G>A | p.R60Q | Missense | 4/22 | - | 2 |
| 1-206647777-A-C | c.191A>C | p.H64P | Missense | 4/22 | - | 1 |
| 1-206647779-C-G | c.193C>G | p.Q65E | Missense | 4/22 | - | 1 |
| 1-206647783-A-G | c.197A>G | p.N66S | Missense | 4/22 | - | 1 |
| 1-206647785-A-G | c.199A>G | p.I67V | Missense | 4/22 | - | 1 |
| 1-206647787-T-A | c.201T>A | p.I67= | Synonymous | 4/22 | - | 30 |
| 1-206647787-T-C | c.201T>C | p.I67= | Synonymous | 4/22 | - | 31 |
| 1-206647787-TGT-CGC | c.201_203delinsCGC | p.V68A | Missense | 4/22 | - | 1 |
| 1-206647788-G-A | c.202G>A | p.V68I | Missense | 4/22 | - | 3 |
| 1-206647792-A-G | c.206A>G | p.K69R | Missense | 4/22 | - | 2 |
| 1-206647793-G-C | c.207G>C | p.K69N | Missense | 4/22 | - | 1 |
| 1-206647793-G-T | c.207G>T | p.K69N | Missense | 4/22 | - | 1 |
| 1-206647800-G-A | c.214G>A | p.A72T | Missense | 4/22 | - | 1 |
| 1-206647800-GCG-TGT | c.214_216delinsTGT | p.A72C | Missense | 4/22 | - | 1 |
| 1-206647801-C-T | c.215C>T | p.A72V | Missense | 4/22 | - | 1 |
| 1-206647810-A-C | c.224A>C | p.E75A | Missense | 4/22 | - | 1 |
| 1-206647810-A-G | c.224A>G | p.E75G | Missense | 4/22 | - | 5 |
| 1-206647813-C-A | c.227C>A | p.T76K | Missense | 4/22 | - | 1 |
| 1-206647813-C-T | c.227C>T | p.T76M | Missense | 4/22 | - | 1 |
| 1-206647814-G-T | c.228G>T | p.T76= | Synonymous | 4/22 | - | 1 |
| 1-206647816-T-A | c.228+2T>A | - | IntronicSNV | - | 4/21 | 1 |
| 1-206647844-C-T | c.228+30C>T | - | IntronicSNV | - | 4/21 | 2 |
| 1-206647938-A-T | c.228+124A>T | - | IntronicSNV | - | 4/21 | 1 |
| 1-206647946-A-T | c.228+132A>T | - | IntronicSNV | - | 4/21 | 1 |
| 1-206647955-A-G | c.228+141A>G | - | IntronicSNV | - | 4/21 | 1 |
| 1-206647963-A-G | c.228+149A>G | - | IntronicSNV | - | 4/21 | 1 |
| 1-206647981-A-G | c.228+167A>G | - | IntronicSNV | - | 4/21 | 1 |
| 1-206648037-C-G | c.229-171C>G | - | IntronicSNV | - | 4/21 | 7 |
| 1-206648147-T-A | c.229-61T>A | - | IntronicSNV | - | 4/21 | 10 |
| 1-206648147-T-G | c.229-61T>G | - | IntronicSNV | - | 4/21 | 10 |
| 1-206648174-C-G | c.229-34C>G | - | IntronicSNV | - | 4/21 | 1 |
| 1-206648174-C-T | c.229-34C>T | - | IntronicSNV | - | 4/21 | 1 |
| 1-206648184-A-G | c.229-24A>G | - | IntronicSNV | - | 4/21 | 1 |
| 1-206648193-C-T | c.229-15C>T | - | IntronicSNV | - | 4/21 | 1 |
| 1-206648208-G-C | c.229G>C | p.G77R | Missense | 5/22 | - | 1 |
| 1-206648208-G-T | c.229G>T | p.G77C | Missense | 5/22 | - | 1 |
| 1-206648209-G-A | c.230G>A | p.G77D | Missense | 5/22 | - | 2 |
| 1-206648210-C-A | c.231C>A | p.G77= | Synonymous | 5/22 | - | 6 |
| 1-206648210-C-G | c.231C>G | p.G77= | Synonymous | 5/22 | - | 6 |
| 1-206648210-C-T | c.231C>T | p.G77= | Synonymous | 5/22 | - | 7 |
| 1-206648211-G-A | c.232G>A | p.G78R | Missense | 5/22 | - | 3 |
| 1-206648211-G-C | c.232G>C | p.G78R | Missense | 5/22 | - | 2 |
| 1-206648214-A-T | c.235A>T | p.S79C | Missense | 5/22 | - | 1 |
| 1-206648215-G-A | c.236G>A | p.S79N | Missense | 5/22 | - | 1 |
| 1-206648217-CG-AC | c.238_239delinsAC | p.R80T | Missense | 5/22 | - | 1 |
| 1-206648217-CGG-ATC | c.238_240delinsATC | p.R80I | Missense | 5/22 | - | 1 |
| 1-206648217-C-T | c.238C>T | p.R80W | Missense | 5/22 | - | 1 |
| 1-206648218-G-A | c.239G>A | p.R80Q | Missense | 5/22 | - | 1 |
| 1-206648219-G-A | c.240G>A | p.R80= | Synonymous | 5/22 | - | 1 |
| 1-206648220-C-T | c.241C>T | p.Q81* | Nonsense | 5/22 | - | 2 |
| 1-206648221-A-G | c.242A>G | p.Q81R | Missense | 5/22 | - | 1 |
| 1-206648222-G-A | c.243G>A | p.Q81= | Synonymous | 5/22 | - | 1 |
| 1-206648234-G-A | c.255G>A | p.V85= | Synonymous | 5/22 | - | 1 |
| 1-206648234-G-C | c.255G>C | p.V85= | Synonymous | 5/22 | - | 1 |
| 1-206648234-G-T | c.255G>T | p.V85= | Synonymous | 5/22 | - | 1 |
| 1-206648235-A-G | c.256A>G | p.M86V | Missense | 5/22 | - | 1 |
| 1-206648236-T-C | c.257T>C | p.M86T | Missense | 5/22 | - | 2 |
| 1-206648241-T-C | c.262T>C | p.Y88H | Missense | 5/22 | - | 1 |
| 1-206648242-A-G | c.263A>G | p.Y88C | Missense | 5/22 | - | 2 |
| 1-206648247-TC-CT | c.268_269delinsCT | p.S90L | Missense | 5/22 | - | 1 |
| 1-206648253-G-A | c.274G>A | p.G92R | Missense | 5/22 | - | 3 |
| 1-206648253-G-C | c.274G>C | p.G92R | Missense | 5/22 | - | 3 |
| 1-206648254-G-A | c.275G>A | p.G92E | Missense | 5/22 | - | 1 |
| 1-206648258-C-T | c.279C>T | p.S93= | Synonymous | 5/22 | - | 1 |
| 1-206648259-C-A | c.280C>A | p.L94M | Missense | 5/22 | - | 2 |
| 1-206648262-C-T | c.283C>T | p.L95= | Synonymous | 5/22 | - | 2 |
| 1-206648264-G-A | c.285G>A | p.L95= | Synonymous | 5/22 | - | 2 |
| 1-206648264-G-C | c.285G>C | p.L95= | Synonymous | 5/22 | - | 2 |
| 1-206648264-G-T | c.285G>T | p.L95= | Synonymous | 5/22 | - | 2 |
| 1-206648268-G-A | c.289G>A | p.V97M | Missense | 5/22 | - | 1 |
| 1-206648274-G-C | c.295G>C | p.E99Q | Missense | 5/22 | - | 1 |
| 1-206648274-G-T | c.295G>T | p.E99* | Nonsense | 5/22 | - | 1 |
| 1-206648276-G-C | c.297G>C | p.E99D | Missense | 5/22 | - | 4 |
| 1-206648276-G-T | c.297G>T | p.E99D | Missense | 5/22 | - | 3 |
| 1-206648277-AG-GC | c.298_299delinsGC | p.S100A | Missense | 5/22 | - | 2 |
| 1-206648281-C-T | c.302C>T | p.P101L | Missense | 5/22 | - | 1 |
| 1-206648283-G-C | c.304G>C | p.E102Q | Missense | 5/22 | - | 1 |
| 1-206648289-G-A | c.310G>A | p.A104T | Missense | 5/22 | - | 3 |
| 1-206648290-C-T | c.311C>T | p.A104V | Missense | 5/22 | - | 2 |
| 1-206648293-T-G | c.314T>G | p.F105C | Missense | 5/22 | - | 1 |
| 1-206648295-G-T | c.316G>T | p.G106W | Missense | 5/22 | - | 1 |
| 1-206648298-C-T | c.319C>T | p.L107= | Synonymous | 5/22 | - | 2 |
| 1-206648300-G-A | c.321G>A | p.L107= | Synonymous | 5/22 | - | 1 |
| 1-206648300-G-C | c.321G>C | p.L107= | Synonymous | 5/22 | - | 1 |
| 1-206648300-G-T | c.321G>T | p.L107= | Synonymous | 5/22 | - | 1 |
| 1-206648301-C-T | c.322C>T | p.P108S | Missense | 5/22 | - | 2 |
| 1-206648302-C-T | c.323C>T | p.P108L | Missense | 5/22 | - | 1 |
| 1-206648303-T-C | c.324T>C | p.P108= | Synonymous | 5/22 | - | 1 |
| 1-206648304-G-A | c.325G>A | p.E109K | Missense | 5/22 | - | 3 |
| 1-206648307-G-A | c.328G>A | p.D110N | Missense | 5/22 | - | 2 |
| 1-206648310-G-A | c.331G>A | p.E111K | Missense | 5/22 | - | 1 |
| 1-206648315-C-T | c.336C>T | p.F112= | Synonymous | 5/22 | - | 4 |
| 1-206648318-G-C | c.339G>C | p.L113= | Synonymous | 5/22 | - | 1 |
| 1-206648317-TG-T | c.340del | p.V114Wfs*10 | Frameshift | 5/22 | - | 1 |
| 1-206648328-C-T | c.349C>T | p.R117C | Missense | 5/22 | - | 6 |
| 1-206648329-G-A | c.350G>A | p.R117H | Missense | 5/22 | - | 2 |
| 1-206648331-TG-GC | c.352_353delinsGC | p.C118A | Missense | 5/22 | - | 1 |
| 1-206648334-G-A | c.355G>A | p.V119M | Missense | 5/22 | - | 1 |
| 1-206648378-G-A | c.358+41G>A | - | IntronicSNV | - | 5/21 | 9 |
| 1-206648404-G-T | c.358+67G>T | - | IntronicSNV | - | 5/21 | 1 |
| 1-206648995-G-A | c.359-529G>A | - | IntronicSNV | - | 5/21 | 1 |
| 1-206649372-T-C | c.359-152T>C | - | IntronicSNV | - | 5/21 | 3 |
| 1-206649373-G-A | c.359-151G>A | - | IntronicSNV | - | 5/21 | 1 |
| 1-206649526-G-A | c.361G>A | p.A121T | Missense | 6/22 | - | 3 |
| 1-206649528-C-T | c.363C>T | p.A121= | Synonymous | 6/22 | - | 2 |
| 1-206649529-G-A | c.364G>A | p.G122S | Missense | 6/22 | - | 2 |
| 1-206649530-G-A | c.365G>A | p.G122D | Missense | 6/22 | - | 7 |
| 1-206649530-GC-AG | c.365_366delinsAG | p.G122E | Missense | 6/22 | - | 1 |
| 1-206649538-C-T | c.373C>T | p.H125Y | Missense | 6/22 | - | 1 |
| 1-206649539-A-G | c.374A>G | p.H125R | Missense | 6/22 | - | 2 |
| 1-206649541-C-T | c.376C>T | p.L126= | Synonymous | 6/22 | - | 1 |
| 1-206649545-G-A | c.380G>A | p.R127Q | Missense | 6/22 | - | 1 |
| 1-206649547-G-A | c.382G>A | p.E128K | Missense | 6/22 | - | 3 |
| 1-206649553-G-A | c.388G>A | p.G130S | Missense | 6/22 | - | 2 |
| 1-206649555-C-A | c.390C>A | p.G130= | Synonymous | 6/22 | - | 4 |
| 1-206649555-C-G | c.390C>G | p.G130= | Synonymous | 6/22 | - | 4 |
| 1-206649555-C-T | c.390C>T | p.G130= | Synonymous | 6/22 | - | 5 |
| 1-206649565-C-T | c.400C>T | p.R134C | Missense | 6/22 | - | 3 |
| 1-206649566-G-A | c.401G>A | p.R134H | Missense | 6/22 | - | 3 |
| 1-206649566-G-T | c.401G>T | p.R134L | Missense | 6/22 | - | 1 |
| 1-206649567-C-A | c.402C>A | p.R134= | Synonymous | 6/22 | - | 7 |
| 1-206649567-C-G | c.402C>G | p.R134= | Synonymous | 6/22 | - | 7 |
| 1-206649567-C-T | c.402C>T | p.R134= | Synonymous | 6/22 | - | 9 |
| 1-206649568-G-A | c.403G>A | p.D135N | Missense | 6/22 | - | 2 |
| 1-206649568-G-C | c.403G>C | p.D135H | Missense | 6/22 | - | 1 |
| 1-206649571-A-C | c.406A>C | p.I136L | Missense | 6/22 | - | 1 |
| 1-206649571-A-G | c.406A>G | p.I136V | Missense | 6/22 | - | 2 |
| 1-206649571-A-T | c.406A>T | p.I136F | Missense | 6/22 | - | 1 |
| 1-206649577-C-T | c.412C>T | p.P138S | Missense | 6/22 | - | 2 |
| 1-206649579-G-A | c.414G>A | p.P138= | Synonymous | 6/22 | - | 1 |
| 1-206649579-G-C | c.414G>C | p.P138= | Synonymous | 6/22 | - | 1 |
| 1-206649579-G-T | c.414G>T | p.P138= | Synonymous | 6/22 | - | 1 |
| 1-206649581-G-C | c.416G>C | p.G139A | Missense | 6/22 | - | 1 |
| 1-206649586-A-G | c.421A>G | p.I141V | Missense | 6/22 | - | 1 |
| 1-206649592-CG-AC | c.427_428delinsAC | p.R143T | Missense | 6/22 | - | 1 |
| 1-206649592-CGC-TGG | c.427_429delinsTGG | p.R143W | Missense | 6/22 | - | 1 |
| 1-206649592-C-T | c.427C>T | p.R143C | Missense | 6/22 | - | 7 |
| 1-206649593-G-A | c.428G>A | p.R143H | Missense | 6/22 | - | 1 |
| 1-206649597-C-A | c.432C>A | p.L144= | Synonymous | 6/22 | - | 1 |
| 1-206649597-C-G | c.432C>G | p.L144= | Synonymous | 6/22 | - | 1 |
| 1-206649597-C-T | c.432C>T | p.L144= | Synonymous | 6/22 | - | 1 |
| 1-206649598-G-A | c.433G>A | p.V145I | Missense | 6/22 | - | 2 |
| 1-206649601-G-T | c.436G>T | p.G146W | Missense | 6/22 | - | 1 |
| 1-206649604-G-C | c.439G>C | p.E147Q | Missense | 6/22 | - | 1 |
| 1-206649605-A-G | c.440A>G | p.E147G | Missense | 6/22 | - | 1 |
| 1-206649606-G-T | c.441G>T | p.E147D | Missense | 6/22 | - | 1 |
| 1-206649607-G-T | c.442G>T | p.E148* | Nonsense | 6/22 | - | 3 |
| 1-206649608-A-G | c.443A>G | p.E148G | Missense | 6/22 | - | 2 |
| 1-206649608-A-T | c.443A>T | p.E148V | Missense | 6/22 | - | 1 |
| 1-206649611-G-C | c.446G>C | p.G149A | Missense | 6/22 | - | 1 |
| 1-206649613-C-T | c.448C>T | p.Q150* | Nonsense | 6/22 | - | 1 |
| 1-206649615-G-T | c.450G>T | p.Q150H | Missense | 6/22 | - | 1 |
| 1-206649616-A-C | c.451A>C | p.S151R | Missense | 6/22 | - | 1 |
| 1-206649618-C-A | c.453C>A | p.S151R | Missense | 6/22 | - | 1 |
| 1-206649618-C-G | c.453C>G | p.S151R | Missense | 6/22 | - | 1 |
| 1-206649619-A-T | c.454A>T | p.I152F | Missense | 6/22 | - | 1 |
| 1-206649621-C-A | c.456C>A | p.I152= | Synonymous | 6/22 | - | 1 |
| 1-206649621-C-T | c.456C>T | p.I152= | Synonymous | 6/22 | - | 1 |
| 1-206649622-T-C | c.457T>C | p.Y153H | Missense | 6/22 | - | 1 |
| 1-206649623-A-T | c.458A>T | p.Y153F | Missense | 6/22 | - | 1 |
| 1-206649626-A-G | c.461A>G | p.K154R | Missense | 6/22 | - | 3 |
| 1-206649627-G-A | c.462G>A | p.K154= | Synonymous | 6/22 | - | 1 |
| 1-206649627-G-C | c.462G>C | p.K154N | Missense | 6/22 | - | 1 |
| 1-206649627-G-T | c.462G>T | p.K154N | Missense | 6/22 | - | 1 |
| 1-206649631-A-G | c.466A>G | p.T156A | Missense | 6/22 | - | 2 |
| 1-206649634-G-A | c.469G>A | p.D157N | Missense | 6/22 | - | 1 |
| 1-206649639-C-T | c.474C>T | p.F158= | Synonymous | 6/22 | - | 2 |
| 1-206649643-G-A | c.478G>A | p.A160T | Missense | 6/22 | - | 2 |
| 1-206649643-G-T | c.478G>T | p.A160S | Missense | 6/22 | - | 1 |
| 1-206649644-C-A | c.479C>A | p.A160D | Missense | 6/22 | - | 1 |
| 1-206649644-C-T | c.479C>T | p.A160V | Missense | 6/22 | - | 1 |
| 1-206649649-CG-AT | c.484_485delinsAT | p.R162M | Missense | 6/22 | - | 2 |
| 1-206649650-G-A | c.485G>A | p.R162Q | Missense | 6/22 | - | 6 |
| 1-206649654-G-C | c.489G>C | p.E163D | Missense | 6/22 | - | 1 |
| 1-206649654-G-T | c.489G>T | p.E163D | Missense | 6/22 | - | 1 |
| 1-206649655-C-A | c.490C>A | p.L164M | Missense | 6/22 | - | 2 |
| 1-206649664-G-A | c.499G>A | p.D167N | Missense | 6/22 | - | 1 |
| 1-206649664-G-C | c.499G>C | p.D167H | Missense | 6/22 | - | 1 |
| 1-206649666-T-G | c.501T>G | p.D167E | Missense | 6/22 | - | 1 |
| 1-206649668-A-C | c.503A>C | p.E168A | Missense | 6/22 | - | 1 |
| 1-206649669-G-C | c.504G>C | p.E168D | Missense | 6/22 | - | 1 |
| 1-206649669-G-T | c.504G>T | p.E168D | Missense | 6/22 | - | 1 |
| 1-206649670-A-C | c.505A>C | p.K169Q | Missense | 6/22 | - | 1 |
| 1-206649671-A-T | c.506A>T | p.K169M | Missense | 6/22 | - | 1 |
| 1-206649675-C-T | c.510C>T | p.F170= | Synonymous | 6/22 | - | 3 |
| 1-206649676-G-A | c.511G>A | p.V171I | Missense | 6/22 | - | 4 |
| 1-206649676-G-T | c.511G>T | p.V171F | Missense | 6/22 | - | 2 |
| 1-206649680-C-A | c.515C>A | p.S172* | Nonsense | 6/22 | - | 1 |
| 1-206649681-G-A | c.516G>A | p.S172= | Synonymous | 6/22 | - | 4 |
| 1-206649681-G-C | c.516G>C | p.S172= | Synonymous | 6/22 | - | 1 |
| 1-206649681-G-T | c.516G>T | p.S172= | Synonymous | 6/22 | - | 1 |
| 1-206649688-G-A | c.523G>A | p.G175R | Missense | 6/22 | - | 2 |
| 1-206649688-GGG-AGC | c.523_525delinsAGC | p.G175S | Missense | 6/22 | - | 1 |
| 1-206649689-G-A | c.524G>A | p.G175E | Missense | 6/22 | - | 2 |
| 1-206649690-G-A | c.525G>A | p.G175= | Synonymous | 6/22 | - | 1 |
| 1-206649690-G-C | c.525G>C | p.G175= | Synonymous | 6/22 | - | 1 |
| 1-206649690-G-T | c.525G>T | p.G175= | Synonymous | 6/22 | - | 1 |
| 1-206649694-G-C | c.529G>C | p.E177Q | Missense | 6/22 | - | 2 |
| 1-206649701-A-T | c.536A>T | p.Y179F | Missense | 6/22 | - | 1 |
| 1-206649874-A-G | c.541-147A>G | - | IntronicSNV | - | 6/21 | 1 |
| 1-206649952-G-A | c.541-69G>A | - | IntronicSNV | - | 6/21 | 6 |
| 1-206650021-C-A | c.541C>A | p.H181N | Missense | 7/22 | - | 1 |
| 1-206650025-C-T | c.545C>T | p.P182L | Missense | 7/22 | - | 2 |
| 1-206650026-C-T | c.546C>T | p.P182= | Synonymous | 7/22 | - | 1 |
| 1-206650027-G-A | c.547G>A | p.D183N | Missense | 7/22 | - | 6 |
| 1-206650032-G-A | c.552G>A | p.M184I | Missense | 7/22 | - | 1 |
| 1-206650039-C-T | c.559C>T | p.R187W | Missense | 7/22 | - | 3 |
| 1-206650040-G-A | c.560G>A | p.R187Q | Missense | 7/22 | - | 7 |
| 1-206650040-G-C | c.560G>C | p.R187P | Missense | 7/22 | - | 1 |
| 1-206650040-G-T | c.560G>T | p.R187L | Missense | 7/22 | - | 1 |
| 1-206650041-G-A | c.561G>A | p.R187= | Synonymous | 7/22 | - | 1 |
| 1-206650042-G-A | c.562G>A | p.A188T | Missense | 7/22 | - | 1 |
| 1-206650043-C-T | c.563C>T | p.A188V | Missense | 7/22 | - | 1 |
| 1-206650044-G-A | c.564G>A | p.A188= | Synonymous | 7/22 | - | 1 |
| 1-206650044-G-C | c.564G>C | p.A188= | Synonymous | 7/22 | - | 1 |
| 1-206650044-G-T | c.564G>T | p.A188= | Synonymous | 7/22 | - | 1 |
| 1-206650047-G-A | c.567G>A | p.V189= | Synonymous | 7/22 | - | 1 |
| 1-206650047-G-C | c.567G>C | p.V189= | Synonymous | 7/22 | - | 1 |
| 1-206650047-G-T | c.567G>T | p.V189= | Synonymous | 7/22 | - | 1 |
| 1-206650051-C-T | c.571C>T | p.R191* | Nonsense | 7/22 | - | 3 |
| 1-206650052-G-A | c.572G>A | p.R191Q | Missense | 7/22 | - | 2 |
| 1-206650057-C-T | c.577C>T | p.P193S | Missense | 7/22 | - | 1 |
| 1-206650065-A-G | c.585A>G | p.Q195= | Synonymous | 7/22 | - | 4 |
| 1-206650067-A-G | c.587A>G | p.K196R | Missense | 7/22 | - | 1 |
| 1-206650063-C-CA | c.588dup | p.A197Sfs*108 | Frameshift | 7/22 | - | 4 |
| 1-206650069-G-A | c.589G>A | p.A197T | Missense | 7/22 | - | 1 |
| 1-206650070-C-T | c.590C>T | p.A197V | Missense | 7/22 | - | 2 |
| 1-206650072-T-C | c.592T>C | p.F198L | Missense | 7/22 | - | 1 |
| 1-206650074-C-T | c.594C>T | p.F198= | Synonymous | 7/22 | - | 5 |
| 1-206650075-G-A | c.595G>A | p.G199R | Missense | 7/22 | - | 1 |
| 1-206650075-G-C | c.595G>C | p.G199R | Missense | 7/22 | - | 1 |
| 1-206650076-G-T | c.596G>T | p.G199V | Missense | 7/22 | - | 5 |
| 1-206650086-G-A | c.606G>A | p.V202= | Synonymous | 7/22 | - | 3 |
| 1-206650086-G-C | c.606G>C | p.V202= | Synonymous | 7/22 | - | 2 |
| 1-206650086-G-T | c.606G>T | p.V202= | Synonymous | 7/22 | - | 2 |
| 1-206650092-C-A | c.612C>A | p.L204= | Synonymous | 7/22 | - | 1 |
| 1-206650100-T-C | c.620T>C | p.I207T | Missense | 7/22 | - | 1 |
| 1-206650107-G-T | c.627G>T | p.V209= | Synonymous | 7/22 | - | 1 |
| 1-206650108-A-G | c.628A>G | p.T210A | Missense | 7/22 | - | 1 |
| 1-206650109-C-T | c.629C>T | p.T210I | Missense | 7/22 | - | 1 |
| 1-206650117-C-A | c.637C>A | p.H213N | Missense | 7/22 | - | 1 |
| 1-206650120-G-A | c.640G>A | p.A214T | Missense | 7/22 | - | 1 |
| 1-206650121-C-T | c.641C>T | p.A214V | Missense | 7/22 | - | 1 |
| 1-206650129-G-A | c.649G>A | p.G217S | Missense | 7/22 | - | 1 |
| 1-206650133-G-A | c.653G>A | p.S218N | Missense | 7/22 | - | 1 |
| 1-206650133-G-T | c.653G>T | p.S218I | Missense | 7/22 | - | 1 |
| 1-206650132-A-C | c.652A>C | p.S218R | Missense | 7/22 | - | 1 |
| 1-206650134-C-A | c.654C>A | p.S218R | Missense | 7/22 | - | 1 |
| 1-206650134-C-G | c.654C>G | p.S218R | Missense | 7/22 | - | 1 |
| 1-206650139-C-G | c.659C>G | p.P220R | Missense | 7/22 | - | 1 |
| 1-206650139-C-T | c.659C>T | p.P220L | Missense | 7/22 | - | 1 |
| 1-206650147-C-T | c.667C>T | p.P223S | Missense | 7/22 | - | 4 |
| 1-206650148-C-T | c.668C>T | p.P223L | Missense | 7/22 | - | 1 |
| 1-206650149-C-T | c.669C>T | p.P223= | Synonymous | 7/22 | - | 1 |
| 1-206650150-T-C | c.670T>C | p.F224L | Missense | 7/22 | - | 3 |
| 1-206650150-T-G | c.670T>G | p.F224V | Missense | 7/22 | - | 1 |
| 1-206650152-T-A | c.672T>A | p.F224L | Missense | 7/22 | - | 2 |
| 1-206650152-T-G | c.672T>G | p.F224L | Missense | 7/22 | - | 2 |
| 1-206650152-T-C | c.672T>C | p.F224= | Synonymous | 7/22 | - | 1 |
| 1-206650157-G-T | c.677G>T | p.G226V | Missense | 7/22 | - | 1 |
| 1-206650159-C-T | c.679C>T | p.P227S | Missense | 7/22 | - | 1 |
| 1-206650162-C-T | c.682C>T | p.R228W | Missense | 7/22 | - | 9 |
| 1-206650163-G-A | c.683G>A | p.R228Q | Missense | 7/22 | - | 1 |
| 1-206650165-C-T | c.685C>T | p.R229W | Missense | 7/22 | - | 2 |
| 1-206650166-G-A | c.686G>A | p.R229Q | Missense | 7/22 | - | 5 |
| 1-206650172-A-G | c.692A>G | p.K231R | Missense | 7/22 | - | 1 |
| 1-206650176-G-A | c.696G>A | p.E232= | Synonymous | 7/22 | - | 1 |
| 1-206650180-A-C | c.700A>C | p.M234L | Missense | 7/22 | - | 1 |
| 1-206650180-A-T | c.700A>T | p.M234L | Missense | 7/22 | - | 1 |
| 1-206650186-G-A | c.701+5G>A | - | IntronicSNV | - | 7/21 | 1 |
| 1-206650457-G-A | c.701+276G>A | - | IntronicSNV | - | 7/21 | 1 |
| 1-206650852-C-CA | c.702-240_702-239insA | - | IntronicInsertion | - | 7/21 | 1 |
| 1-206650852-C-CAG | c.702-240_702-239insAG | - | IntronicInsertion | - | 7/21 | 1 |
| 1-206650852-C-CAGG | c.702-240_702-239insAGG | - | IntronicInsertion | - | 7/21 | 1 |
| 1-206651088-G-A | c.702-4G>A | - | IntronicSNV | - | 7/21 | 1 |
| 1-206651088-G-T | c.702-4G>T | - | IntronicSNV | - | 7/21 | 1 |
| 1-206651095-C-A | c.705C>A | p.Y235* | Nonsense | 8/22 | - | 1 |
| 1-206651096-C-T | c.706C>T | p.R236W | Missense | 8/22 | - | 2 |
| 1-206651106-C-T | c.716C>T | p.T239M | Missense | 8/22 | - | 1 |
| 1-206651107-G-A | c.717G>A | p.T239= | Synonymous | 8/22 | - | 17 |
| 1-206651107-G-C | c.717G>C | p.T239= | Synonymous | 8/22 | - | 2 |
| 1-206651107-G-T | c.717G>T | p.T239= | Synonymous | 8/22 | - | 11 |
| 1-206651111-A-C | c.721A>C | p.K241Q | Missense | 8/22 | - | 1 |
| 1-206651118-C-A | c.728C>A | p.A243D | Missense | 8/22 | - | 1 |
| 1-206651120-GGG-AGC | c.730_732delinsAGC | p.G244S | Missense | 8/22 | - | 1 |
| 1-206651123-G-T | c.733G>T | p.A245S | Missense | 8/22 | - | 1 |
| 1-206651124-C-T | c.734C>T | p.A245V | Missense | 8/22 | - | 2 |
| 1-206651130-C-T | c.740C>T | p.A247V | Missense | 8/22 | - | 4 |
| 1-206651133-G-T | c.743G>T | p.G248V | Missense | 8/22 | - | 1 |
| 1-206651133-GT-AG | c.743_744delinsAG | p.G248E | Missense | 8/22 | - | 1 |
| 1-206651134-T-C | c.744T>C | p.G248= | Synonymous | 8/22 | - | 1 |
| 1-206651140-G-T | c.750G>T | p.Q250H | Missense | 8/22 | - | 1 |
| 1-206651143-G-A | c.753G>A | p.R251= | Synonymous | 8/22 | - | 3 |
| 1-206651144-C-T | c.754C>T | p.R252W | Missense | 8/22 | - | 1 |
| 1-206651145-G-A | c.755G>A | p.R252Q | Missense | 8/22 | - | 1 |
| 1-206651147-G-A | c.757G>A | p.E253K | Missense | 8/22 | - | 1 |
| 1-206651147-G-C | c.757G>C | p.E253Q | Missense | 8/22 | - | 1 |
| 1-206651149-G-A | c.759G>A | p.E253= | Synonymous | 8/22 | - | 1 |
| 1-206651152-C-T | c.762C>T | p.N254= | Synonymous | 8/22 | - | 1 |
| 1-206651153-G-A | c.763G>A | p.G255R | Missense | 8/22 | - | 4 |
| 1-206651153-G-T | c.763G>T | p.G255W | Missense | 8/22 | - | 1 |
| 1-206651162-G-A | c.772G>A | p.E258K | Missense | 8/22 | - | 1 |
| 1-206651168-A-G | c.778A>G | p.S260G | Missense | 8/22 | - | 1 |
| 1-206651177-C-A | c.787C>A | p.L263I | Missense | 8/22 | - | 2 |
| 1-206651177-C-T | c.787C>T | p.L263F | Missense | 8/22 | - | 1 |
| 1-206651181-C-T | c.791C>T | p.P264L | Missense | 8/22 | - | 1 |
| 1-206651186-A-G | c.796A>G | p.T266A | Missense | 8/22 | - | 1 |
| 1-206651199-CA-TT | c.809_810delinsTT | p.S270F | Missense | 8/22 | - | 1 |
| 1-206651199-C-CA | c.810dup | p.L271Tfs*34 | SpliceDonorInsertion | 8/22 | - | 1 |
| 1-206651200-A-AG | c.810_811insG | p.L271Afs*34 | SpliceDonorInsertion | 8/22 | - | 1 |
| 1-206651200-A-AT | c.810_811insT | p.L271Sfs*34 | SpliceDonorInsertion | 8/22 | - | 1 |
| 1-206651200-A-AC | c.811dup | p.L271Pfs*34 | SpliceDonorInsertion | 8/22 | - | 1 |
| 1-206651280-A-T | c.812+78A>T | - | IntronicSNV | - | 8/21 | 1 |
| 1-206651292-G-A | c.812+90G>A | - | IntronicSNV | - | 8/21 | 1 |
| 1-206651350-C-T | c.812+148C>T | - | IntronicSNV | - | 8/21 | 7 |
| 1-206651351-G-A | c.812+149G>A | - | IntronicSNV | - | 8/21 | 2 |
| 1-206651467-C-T | c.813-36C>T | - | IntronicSNV | - | 8/21 | 2 |
| 1-206651503-G-C | c.813G>C | p.L271= | Synonymous | 9/22 | - | 1 |
| 1-206651510-C-T | c.820C>T | p.Q274* | Nonsense | 9/22 | - | 1 |
| 1-206651511-CA-C | c.821del | p.Q274Rfs*59 | Frameshift | 9/22 | - | 1 |
| 1-206651513-AG-CT | c.823_824inv | p.S275L | Missense | 9/22 | - | 1 |
| 1-206651524-G-A | c.834G>A | p.V278= | Synonymous | 9/22 | - | 1 |
| 1-206651534-G-T | c.844G>T | p.A282S | Missense | 9/22 | - | 3 |
| 1-206651542-C-T | c.852C>T | p.I284= | Synonymous | 9/22 | - | 3 |
| 1-206651544-T-C | c.854T>C | p.L285P | Missense | 9/22 | - | 1 |
| 1-206651551-G-A | c.861G>A | p.V287= | Synonymous | 9/22 | - | 2 |
| 1-206651551-G-C | c.861G>C | p.V287= | Synonymous | 9/22 | - | 1 |
| 1-206651551-G-T | c.861G>T | p.V287= | Synonymous | 9/22 | - | 1 |
| 1-206651552-G-A | c.862G>A | p.E288K | Missense | 9/22 | - | 2 |
| 1-206651553-A-T | c.863A>T | p.E288V | Missense | 9/22 | - | 1 |
| 1-206651554-G-A | c.864G>A | p.E288= | Synonymous | 9/22 | - | 1 |
| 1-206651558-G-A | c.868G>A | p.A290T | Missense | 9/22 | - | 1 |
| 1-206651559-C-A | c.869C>A | p.A290D | Missense | 9/22 | - | 1 |
| 1-206651560-C-G | c.870C>G | p.A290= | Synonymous | 9/22 | - | 1 |
| 1-206651568-G-A | c.878G>A | p.W293* | Nonsense | 9/22 | - | 2 |
| 1-206651569-G-A | c.879G>A | p.W293* | Nonsense | 9/22 | - | 2 |
| 1-206651569-G-C | c.879G>C | p.W293C | Missense | 9/22 | - | 1 |
| 1-206651569-G-T | c.879G>T | p.W293C | Missense | 9/22 | - | 1 |
| 1-206651573-T-G | c.883T>G | p.F295V | Missense | 9/22 | - | 1 |
| 1-206651582-T-C | c.892T>C | p.F298L | Missense | 9/22 | - | 1 |
| 1-206651584-C-A | c.894C>A | p.F298L | Missense | 9/22 | - | 1 |
| 1-206651584-C-G | c.894C>G | p.F298L | Missense | 9/22 | - | 1 |
| 1-206651584-C-T | c.894C>T | p.F298= | Synonymous | 9/22 | - | 2 |
| 1-206651588-G-A | c.898G>A | p.A300T | Missense | 9/22 | - | 1 |
| 1-206651589-C-A | c.899C>A | p.A300E | Missense | 9/22 | - | 1 |
| 1-206651589-C-T | c.899C>T | p.A300V | Missense | 9/22 | - | 2 |
| 1-206651596-C-T | c.906C>T | p.T302= | Synonymous | 9/22 | - | 2 |
| 1-206651597-A-T | c.907A>T | p.S303C | Missense | 9/22 | - | 3 |
| 1-206651598-G-A | c.908G>A | p.S303N | Missense | 9/22 | - | 1 |
| 1-206651598-G-T | c.908G>T | p.S303I | Missense | 9/22 | - | 1 |
| 1-206651600-G-A | c.910G>A | p.D304N | Missense | 9/22 | - | 1 |
| 1-206651603-A-G | c.913A>G | p.I305V | Missense | 9/22 | - | 1 |
| 1-206651605-C-T | c.915C>T | p.I305= | Synonymous | 9/22 | - | 3 |
| 1-206651612-C-A | c.922C>A | p.R308= | Synonymous | 9/22 | - | 1 |
| 1-206651614-A-C | c.924A>C | p.R308= | Synonymous | 9/22 | - | 1 |
| 1-206651614-A-G | c.924A>G | p.R308= | Synonymous | 9/22 | - | 1 |
| 1-206651614-A-T | c.924A>T | p.R308= | Synonymous | 9/22 | - | 1 |
| 1-206651613-G-A | c.923G>A | p.R308Q | Missense | 9/22 | - | 1 |
| 1-206651617-T-A | c.927T>A | p.V309= | Synonymous | 9/22 | - | 1 |
| 1-206651617-T-C | c.927T>C | p.V309= | Synonymous | 9/22 | - | 1 |
| 1-206651617-T-G | c.927T>G | p.V309= | Synonymous | 9/22 | - | 1 |
| 1-206651621-G-A | c.931G>A | p.V311I | Missense | 9/22 | - | 3 |
| 1-206651627-G-A | c.937G>A | p.V313I | Missense | 9/22 | - | 1 |
| 1-206651632-C-G | c.942C>G | p.F314L | Missense | 9/22 | - | 1 |
| 1-206651634-C-T | c.944C>T | p.S315F | Missense | 9/22 | - | 1 |
| 1-206651635-C-A | c.945C>A | p.S315= | Synonymous | 9/22 | - | 1 |
| 1-206651635-C-G | c.945C>G | p.S315= | Synonymous | 9/22 | - | 1 |
| 1-206651635-C-T | c.945C>T | p.S315= | Synonymous | 9/22 | - | 1 |
| 1-206651636-C-A | c.946C>A | p.L316M | Missense | 9/22 | - | 1 |
| 1-206651636-C-T | c.946C>T | p.L316= | Synonymous | 9/22 | - | 1 |
| 1-206651640-CC-AA | c.950_951delinsAA | p.S317* | Nonsense | 9/22 | - | 1 |
| 1-206651643-A-C | c.953A>C | p.Q318P | Missense | 9/22 | - | 1 |
| 1-206651645-G-T | c.955G>T | p.A319S | Missense | 9/22 | - | 1 |
| 1-206651648-GTC-ATG | c.958_960delinsATG | p.V320M | Missense | 9/22 | - | 1 |
| 1-206651653-G-A | c.963G>A | p.L321= | Synonymous | 9/22 | - | 1 |
| 1-206651655-A-T | c.965A>T | p.H322L | Missense | 9/22 | - | 1 |
| 1-206651656-C-A | c.966C>A | p.H322Q | Missense | 9/22 | - | 1 |
| 1-206651658-A-G | c.968A>G | p.H323R | Missense | 9/22 | - | 1 |
| 1-206651669-C-T | c.979C>T | p.H327Y | Missense | 9/22 | - | 4 |
| 1-206651673-C-G | c.983C>G | p.A328G | Missense | 9/22 | - | 1 |
| 1-206651675-C-T | c.985C>T | p.H329Y | Missense | 9/22 | - | 4 |
| 1-206651677-C-A | c.987C>A | p.H329Q | Missense | 9/22 | - | 1 |
| 1-206651677-C-G | c.987C>G | p.H329Q | Missense | 9/22 | - | 1 |
| 1-206651682-C-T | c.992C>T | p.T331M | Missense | 9/22 | - | 1 |
| 1-206651683-G-A | c.992+1G>A | - | IntronicSNV | - | 9/21 | 1 |
| 1-206651725-C-T | c.992+43C>T | - | IntronicSNV | - | 9/21 | 2 |
| 1-206652286-G-A | c.993G>A | p.T331= | Synonymous | 10/22 | - | 3 |
| 1-206652290-G-A | c.997G>A | p.A333T | Missense | 10/22 | - | 2 |
| 1-206652294-T-A | c.1001T>A | p.I334N | Missense | 10/22 | - | 2 |
| 1-206652293-AT-A | c.1004del | p.F335Sfs*45 | Frameshift | 10/22 | - | 1 |
| 1-206652298-C-T | c.1005C>T | p.F335= | Synonymous | 10/22 | - | 4 |
| 1-206652302-G-A | c.1009G>A | p.E337K | Missense | 10/22 | - | 1 |
| 1-206652308-G-A | c.1015G>A | p.V339M | Missense | 10/22 | - | 1 |
| 1-206652311-C-T | c.1018C>T | p.H340Y | Missense | 10/22 | - | 1 |
| 1-206652319-G-C | c.1026G>C | p.Q342H | Missense | 10/22 | - | 1 |
| 1-206652319-G-T | c.1026G>T | p.Q342H | Missense | 10/22 | - | 1 |
| 1-206652330-C-G | c.1037C>G | p.A346G | Missense | 10/22 | - | 1 |
| 1-206652333-C-G | c.1040C>G | p.P347R | Missense | 10/22 | - | 1 |
| 1-206652329-GC-G | c.1042del | p.R348Dfs*32 | Frameshift | 10/22 | - | 3 |
| 1-206652329-G-GC | c.1042dup | p.R348Pfs*8 | Frameshift | 10/22 | - | 2 |
| 1-206652336-G-A | c.1043G>A | p.R348Q | Missense | 10/22 | - | 3 |
| 1-206652336-G-C | c.1043G>C | p.R348P | Missense | 10/22 | - | 1 |
| 1-206652344-G-A | c.1051G>A | p.E351K | Missense | 10/22 | - | 1 |
| 1-206652348-A-G | c.1055A>G | p.Y352C | Missense | 10/22 | - | 1 |
| 1-206652350-CT-GC | c.1057_1058delinsGC | p.L353A | Missense | 10/22 | - | 1 |
| 1-206652353-TT-GC | c.1060_1061delinsGC | p.F354A | Missense | 10/22 | - | 1 |
| 1-206652356-G-A | c.1063G>A | p.E355K | Missense | 10/22 | - | 1 |
| 1-206652357-A-G | c.1064A>G | p.E355G | Missense | 10/22 | - | 1 |
| 1-206652365-C-G | c.1072C>G | p.L358V | Missense | 10/22 | - | 1 |
| 1-206652367-C-A | c.1074C>A | p.L358= | Synonymous | 10/22 | - | 1 |
| 1-206652367-C-G | c.1074C>G | p.L358= | Synonymous | 10/22 | - | 1 |
| 1-206652367-C-T | c.1074C>T | p.L358= | Synonymous | 10/22 | - | 1 |
| 1-206652377-G-A | c.1084G>A | p.E362K | Missense | 10/22 | - | 2 |
| 1-206652378-GA-G | c.1085del | p.E362Gfs*18 | Frameshift | 10/22 | - | 1 |
| 1-206652386-G-A | c.1093G>A | p.V365I | Missense | 10/22 | - | 6 |
| 1-206652390-CA-TT | c.1097_1098delinsTT | p.S366F | Missense | 10/22 | - | 1 |
| 1-206652396-A-G | c.1103A>G | p.Q368R | Missense | 10/22 | - | 1 |
| 1-206652400-C-T | c.1107C>T | p.H369= | Synonymous | 10/22 | - | 1 |
| 1-206652403-C-A | c.1110C>A | p.I370= | Synonymous | 10/22 | - | 2 |
| 1-206652403-C-G | c.1110C>G | p.I370M | Missense | 10/22 | - | 1 |
| 1-206652403-C-T | c.1110C>T | p.I370= | Synonymous | 10/22 | - | 2 |
| 1-206652404-G-A | c.1111G>A | p.A371T | Missense | 10/22 | - | 15 |
| 1-206652404-G-C | c.1111G>C | p.A371P | Missense | 10/22 | - | 5 |
| 1-206652405-C-T | c.1112C>T | p.A371V | Missense | 10/22 | - | 5 |
| 1-206652407-C-T | c.1114C>T | p.H372Y | Missense | 10/22 | - | 2 |
| 1-206652408-A-T | c.1115A>T | p.H372L | Missense | 10/22 | - | 1 |
| 1-206652411-C-T | c.1118C>T | p.T373M | Missense | 10/22 | - | 5 |
| 1-206652412-G-A | c.1119G>A | p.T373= | Synonymous | 10/22 | - | 4 |
| 1-206652412-G-C | c.1119G>C | p.T373= | Synonymous | 10/22 | - | 1 |
| 1-206652412-G-T | c.1119G>T | p.T373= | Synonymous | 10/22 | - | 1 |
| 1-206652416-G-A | c.1123G>A | p.A375T | Missense | 10/22 | - | 2 |
| 1-206652416-GCA-ATG | c.1123_1125delinsATG | p.A375M | Missense | 10/22 | - | 1 |
| 1-206652423-G-A | c.1130G>A | p.S377N | Missense | 10/22 | - | 1 |
| 1-206652425-C-T | c.1132C>T | p.P378S | Missense | 10/22 | - | 1 |
| 1-206652427-C-G | c.1134C>G | p.P378= | Synonymous | 10/22 | - | 4 |
| 1-206652423-GC-G | c.1135del | p.L379* | Frameshift | 10/22 | - | 1 |
| 1-206652428-C-T | c.1135C>T | p.L379= | Synonymous | 10/22 | - | 1 |
| 1-206652429-T-C | c.1136T>C | p.L379P | Missense | 10/22 | - | 1 |
| 1-206652431-A-G | c.1138A>G | p.T380A | Missense | 10/22 | - | 1 |
| 1-206652432-CC-GG | c.1139_1140inv | p.T380R | Missense | 10/22 | - | 1 |
| 1-206652434-C-T | c.1141C>T | p.L381F | Missense | 10/22 | - | 1 |
| 1-206652436-C-A | c.1143C>A | p.L381= | Synonymous | 10/22 | - | 1 |
| 1-206652436-C-G | c.1143C>G | p.L381= | Synonymous | 10/22 | - | 2 |
| 1-206652436-C-T | c.1143C>T | p.L381= | Synonymous | 10/22 | - | 1 |
| 1-206652441-G-A | c.1148G>A | p.S383N | Missense | 10/22 | - | 1 |
| 1-206652443-ACA-TGT | c.1150_1152inv | p.T384C | Missense | 10/22 | - | 1 |
| 1-206652443-A-G | c.1150A>G | p.T384A | Missense | 10/22 | - | 4 |
| 1-206652447-C-T | c.1154C>T | p.A385V | Missense | 10/22 | - | 5 |
| 1-206652450-T-C | c.1157T>C | p.I386T | Missense | 10/22 | - | 1 |
| 1-206652452-C-T | c.1159C>T | p.P387S | Missense | 10/22 | - | 3 |
| 1-206652454-T-A | c.1161T>A | p.P387= | Synonymous | 10/22 | - | 1 |
| 1-206652454-T-C | c.1161T>C | p.P387= | Synonymous | 10/22 | - | 1 |
| 1-206652454-T-G | c.1161T>G | p.P387= | Synonymous | 10/22 | - | 1 |
| 1-206652455-A-C | c.1162A>C | p.K388Q | Missense | 10/22 | - | 1 |
| 1-206652458-G-A | c.1165G>A | p.G389R | Missense | 10/22 | - | 2 |
| 1-206652458-G-C | c.1165G>C | p.G389R | Missense | 10/22 | - | 1 |
| 1-206652458-GGG-AGC | c.1165_1167delinsAGC | p.G389S | Missense | 10/22 | - | 1 |
| 1-206652459-G-A | c.1166G>A | p.G389E | Missense | 10/22 | - | 1 |
| 1-206652460-G-A | c.1167G>A | p.G389= | Synonymous | 10/22 | - | 2 |
| 1-206652460-G-C | c.1167G>C | p.G389= | Synonymous | 10/22 | - | 2 |
| 1-206652460-G-T | c.1167G>T | p.G389= | Synonymous | 10/22 | - | 2 |
| 1-206652466-C-A | c.1173C>A | p.A391= | Synonymous | 10/22 | - | 1 |
| 1-206652466-C-G | c.1173C>G | p.A391= | Synonymous | 10/22 | - | 1 |
| 1-206652466-C-T | c.1173C>T | p.A391= | Synonymous | 10/22 | - | 1 |
| 1-206652467-T-C | c.1174T>C | p.F392L | Missense | 10/22 | - | 1 |
| 1-206652469-C-A | c.1176C>A | p.F392L | Missense | 10/22 | - | 1 |
| 1-206652469-C-G | c.1176C>G | p.F392L | Missense | 10/22 | - | 1 |
| 1-206652470-AGG-TGT | c.1177_1179delinsTGT | p.R393C | Missense | 10/22 | - | 1 |
| 1-206652473-G-A | c.1180G>A | p.D394N | Missense | 10/22 | - | 2 |
| 1-206652475-C-T | c.1182C>T | p.D394= | Synonymous | 10/22 | - | 1 |
| 1-206652500-A-G | c.1183+24A>G | - | IntronicSNV | - | 10/21 | 2 |
| 1-206652524-T-C | c.1183+48T>C | - | IntronicSNV | - | 10/21 | 4 |
| 1-206652739-A-G | c.1183+263A>G | - | IntronicSNV | - | 10/21 | 2 |
| 1-206653213-C-T | c.1184C>T | p.P395L | Missense | 11/22 | - | 1 |
| 1-206653215-G-T | c.1186G>T | p.A396S | Missense | 11/22 | - | 1 |
| 1-206653221-G-A | c.1192G>A | p.D398N | Missense | 11/22 | - | 1 |
| 1-206653223-C-T | c.1194C>T | p.D398= | Synonymous | 11/22 | - | 3 |
| 1-206653224-G-A | c.1195G>A | p.V399I | Missense | 11/22 | - | 1 |
| 1-206653229-C-T | c.1200C>T | p.P400= | Synonymous | 11/22 | - | 1 |
| 1-206653235-C-T | c.1206C>T | p.F402= | Synonymous | 11/22 | - | 1 |
| 1-206653236-G-A | c.1207G>A | p.V403I | Missense | 11/22 | - | 4 |
| 1-206653236-GTC-ATG | c.1207_1209delinsATG | p.V403M | Missense | 11/22 | - | 1 |
| 1-206653239-CC-TT | c.1210_1211delinsTT | p.P404F | Missense | 11/22 | - | 1 |
| 1-206653239-C-T | c.1210C>T | p.P404S | Missense | 11/22 | - | 1 |
| 1-206653240-C-T | c.1211C>T | p.P404L | Missense | 11/22 | - | 5 |
| 1-206653244-A-G | c.1215A>G | p.K405= | Synonymous | 11/22 | - | 1 |
| 1-206653247-G-A | c.1218G>A | p.V406= | Synonymous | 11/22 | - | 1 |
| 1-206653250-C-A | c.1221C>A | p.D407E | Missense | 11/22 | - | 1 |
| 1-206653257-G-A | c.1228G>A | p.A410T | Missense | 11/22 | - | 1 |
| 1-206653259-G-A | c.1230G>A | p.A410= | Synonymous | 11/22 | - | 1 |
| 1-206653260-G-T | c.1231G>T | p.D411Y | Missense | 11/22 | - | 1 |
| 1-206653365-G-C | c.1249G>C | p.G417R | Missense | 12/22 | - | 1 |
| 1-206653366-G-A | c.1250G>A | p.G417D | Missense | 12/22 | - | 1 |
| 1-206653367-C-A | c.1251C>A | p.G417= | Synonymous | 12/22 | - | 3 |
| 1-206653367-C-G | c.1251C>G | p.G417= | Synonymous | 12/22 | - | 3 |
| 1-206653367-C-T | c.1251C>T | p.G417= | Synonymous | 12/22 | - | 3 |
| 1-206653368-G-A | c.1252G>A | p.V418M | Missense | 12/22 | - | 3 |
| 1-206653371-T-C | c.1255T>C | p.L419= | Synonymous | 12/22 | - | 1 |
| 1-206653373-G-A | c.1257G>A | p.L419= | Synonymous | 12/22 | - | 1 |
| 1-206653376-C-A | c.1260C>A | p.G420= | Synonymous | 12/22 | - | 1 |
| 1-206653376-C-G | c.1260C>G | p.G420= | Synonymous | 12/22 | - | 1 |
| 1-206653376-C-T | c.1260C>T | p.G420= | Synonymous | 12/22 | - | 3 |
| 1-206653377-G-A | c.1261G>A | p.A421T | Missense | 12/22 | - | 3 |
| 1-206653377-G-T | c.1261G>T | p.A421S | Missense | 12/22 | - | 1 |
| 1-206653378-C-A | c.1262C>A | p.A421D | Missense | 12/22 | - | 1 |
| 1-206653380-G-T | c.1264G>T | p.G422C | Missense | 12/22 | - | 1 |
| 1-206653388-G-A | c.1272G>A | p.Q424= | Synonymous | 12/22 | - | 1 |
| 1-206653390-C-G | c.1274C>G | p.A425G | Missense | 12/22 | - | 1 |
| 1-206653395-CGG-ATC | c.1279_1281delinsATC | p.R427I | Missense | 12/22 | - | 1 |
| 1-206653396-G-A | c.1280G>A | p.R427Q | Missense | 12/22 | - | 1 |
| 1-206653396-G-T | c.1280G>T | p.R427L | Missense | 12/22 | - | 1 |
| 1-206653398-C-G | c.1282C>G | p.L428V | Missense | 12/22 | - | 1 |
| 1-206653400-G-T | c.1284G>T | p.L428= | Synonymous | 12/22 | - | 1 |
| 1-206653405-G-T | c.1289G>T | p.R430L | Missense | 12/22 | - | 1 |
| 1-206653406-G-C | c.1290G>C | p.R430= | Synonymous | 12/22 | - | 1 |
| 1-206653406-G-T | c.1290G>T | p.R430= | Synonymous | 12/22 | - | 1 |
| 1-206653412-G-A | c.1296G>A | p.L432= | Synonymous | 12/22 | - | 1 |
| 1-206653413-C-A | c.1297C>A | p.L433M | Missense | 12/22 | - | 1 |
| 1-206653413-C-T | c.1297C>T | p.L433= | Synonymous | 12/22 | - | 1 |
| 1-206653415-G-A | c.1299G>A | p.L433= | Synonymous | 12/22 | - | 1 |
| 1-206653418-T-TG | c.1305dup | p.Q436Afs*40 | Frameshift | 12/22 | - | 1 |
| 1-206653424-G-C | c.1308G>C | p.Q436H | Missense | 12/22 | - | 1 |
| 1-206653424-G-T | c.1308G>T | p.Q436H | Missense | 12/22 | - | 1 |
| 1-206653425-G-A | c.1309G>A | p.E437K | Missense | 12/22 | - | 1 |
| 1-206653427-G-C | c.1311G>C | p.E437D | Missense | 12/22 | - | 1 |
| 1-206653427-G-T | c.1311G>T | p.E437D | Missense | 12/22 | - | 1 |
| 1-206653431-A-G | c.1315A>G | p.M439V | Missense | 12/22 | - | 1 |
| 1-206653437-C-G | c.1321C>G | p.R441G | Missense | 12/22 | - | 1 |
| 1-206653437-CG-TA | c.1321_1322delinsTA | p.R441* | Nonsense | 12/22 | - | 1 |
| 1-206653437-C-T | c.1321C>T | p.R441W | Missense | 12/22 | - | 1 |
| 1-206653438-G-A | c.1322G>A | p.R441Q | Missense | 12/22 | - | 1 |
| 1-206653438-G-T | c.1322G>T | p.R441L | Missense | 12/22 | - | 1 |
| 1-206653440-G-C | c.1324G>C | p.G442R | Missense | 12/22 | - | 1 |
| 1-206653440-G-T | c.1324G>T | p.G442W | Missense | 12/22 | - | 1 |
| 1-206653442-G-A | c.1326G>A | p.G442= | Synonymous | 12/22 | - | 1 |
| 1-206653442-G-C | c.1326G>C | p.G442= | Synonymous | 12/22 | - | 1 |
| 1-206653442-G-T | c.1326G>T | p.G442= | Synonymous | 12/22 | - | 1 |
| 1-206653443-C-G | c.1327C>G | p.L443V | Missense | 12/22 | - | 1 |
| 1-206653450-G-A | c.1334G>A | p.W445* | Nonsense | 12/22 | - | 1 |
| 1-206653450-G-C | c.1334G>C | p.W445S | Missense | 12/22 | - | 1 |
| 1-206653451-G-A | c.1335G>A | p.W445* | Nonsense | 12/22 | - | 1 |
| 1-206653451-G-T | c.1335G>T | p.W445C | Missense | 12/22 | - | 3 |
| 1-206653454-C-T | c.1338C>T | p.V446= | Synonymous | 12/22 | - | 1 |
| 1-206653455-A-G | c.1339A>G | p.M447V | Missense | 12/22 | - | 1 |
| 1-206653457-G-A | c.1340+1G>A | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653475-T-G | c.1340+19T>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653484-A-G | c.1340+28A>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653490-A-G | c.1340+34A>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653503-A-G | c.1340+47A>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653518-A-G | c.1340+62A>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653547-T-G | c.1340+91T>G | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653558-C-T | c.1340+102C>T | - | IntronicSNV | - | 12/21 | 1 |
| 1-206653790-G-A | c.1341G>A | p.M447I | Missense | 13/22 | - | 1 |
| 1-206653790-G-C | c.1341G>C | p.M447I | Missense | 13/22 | - | 1 |
| 1-206653790-G-T | c.1341G>T | p.M447I | Missense | 13/22 | - | 1 |
| 1-206653791-G-A | c.1342G>A | p.E448K | Missense | 13/22 | - | 3 |
| 1-206653791-G-T | c.1342G>T | p.E448* | Nonsense | 13/22 | - | 1 |
| 1-206653793-G-A | c.1344G>A | p.E448= | Synonymous | 13/22 | - | 1 |
| 1-206653794-G-A | c.1345G>A | p.V449M | Missense | 13/22 | - | 2 |
| 1-206653798-T-G | c.1349T>G | p.L450R | Missense | 13/22 | - | 1 |
| 1-206653799-C-A | c.1350C>A | p.L450= | Synonymous | 13/22 | - | 1 |
| 1-206653802-G-C | c.1353G>C | p.Q451H | Missense | 13/22 | - | 4 |
| 1-206653807-C-T | c.1358C>T | p.T453I | Missense | 13/22 | - | 3 |
| 1-206653812-A-C | c.1363A>C | p.R455= | Synonymous | 13/22 | - | 1 |
| 1-206653814-A-G | c.1365A>G | p.R455= | Synonymous | 13/22 | - | 2 |
| 1-206653815-CGG-TGT | c.1366_1368delinsTGT | p.R456C | Missense | 13/22 | - | 1 |
| 1-206653815-C-T | c.1366C>T | p.R456W | Missense | 13/22 | - | 3 |
| 1-206653816-G-A | c.1367G>A | p.R456Q | Missense | 13/22 | - | 4 |
| 1-206653821-C-G | c.1372C>G | p.L458V | Missense | 13/22 | - | 3 |
| 1-206653821-C-T | c.1372C>T | p.L458= | Synonymous | 13/22 | - | 1 |
| 1-206653823-G-A | c.1374G>A | p.L458= | Synonymous | 13/22 | - | 1 |
| 1-206653823-G-C | c.1374G>C | p.L458= | Synonymous | 13/22 | - | 1 |
| 1-206653823-G-T | c.1374G>T | p.L458= | Synonymous | 13/22 | - | 1 |
| 1-206653824-G-A | c.1375G>A | p.E459K | Missense | 13/22 | - | 4 |
| 1-206653832-A-G | c.1383A>G | p.A461= | Synonymous | 13/22 | - | 1 |
| 1-206653840-C-T | c.1391C>T | p.S464F | Missense | 13/22 | - | 4 |
| 1-206653841-C-A | c.1392C>A | p.S464= | Synonymous | 13/22 | - | 1 |
| 1-206653841-C-G | c.1392C>G | p.S464= | Synonymous | 13/22 | - | 1 |
| 1-206653841-C-T | c.1392C>T | p.S464= | Synonymous | 13/22 | - | 2 |
| 1-206653842-C-T | c.1393C>T | p.L465F | Missense | 13/22 | - | 1 |
| 1-206653844-C-T | c.1395C>T | p.L465= | Synonymous | 13/22 | - | 1 |
| 1-206653859-C-T | c.1410C>T | p.S470= | Synonymous | 13/22 | - | 1 |
| 1-206653861-G-A | c.1412G>A | p.S471N | Missense | 13/22 | - | 1 |
| 1-206653867-G-C | c.1418G>C | p.G473A | Missense | 13/22 | - | 1 |
| 1-206653875-A-G | c.1426A>G | p.R476G | Missense | 13/22 | - | 1 |
| 1-206653964-T-TC | c.1427+92dup | - | IntronicInsertion | - | 13/21 | 2 |
| 1-206654022-T-C | c.1427+146T>C | - | IntronicSNV | - | 13/21 | 1 |
| 1-206654268-A-G | c.1427+392A>G | - | IntronicSNV | - | 13/21 | 3 |
| 1-206654292-G-A | c.1427+416G>A | - | IntronicSNV | - | 13/21 | 1 |
| 1-206654497-T-C | c.1427+621T>C | - | IntronicSNV | - | 13/21 | 1 |
| 1-206654738-G-A | c.1427+862G>A | - | IntronicSNV | - | 13/21 | 3 |
| 1-206654738-G-C | c.1427+862G>C | - | IntronicSNV | - | 13/21 | 3 |
| 1-206655331-C-T | c.1427+1455C>T | - | IntronicSNV | - | 13/21 | 6 |
| 1-206656165-A-G | c.1428-2169A>G | - | IntronicSNV | - | 13/21 | 1 |
| 1-206656332-C-T | c.1428-2002C>T | - | IntronicSNV | - | 13/21 | 1 |
| 1-206656577-G-A | c.1428-1757G>A | - | IntronicSNV | - | 13/21 | 1 |
| 1-206656770-C-T | c.1428-1564C>T | - | IntronicSNV | - | 13/21 | 2 |
| 1-206657181-T-A | c.1428-1153T>A | - | IntronicSNV | - | 13/21 | 2 |
| 1-206657275-T-A | c.1428-1059T>A | - | IntronicSNV | - | 13/21 | 1 |
| 1-206657802-T-C | c.1428-532T>C | - | IntronicSNV | - | 13/21 | 4 |
| 1-206657802-T-G | c.1428-532T>G | - | IntronicSNV | - | 13/21 | 4 |
| 1-206658335-T-C | c.1429T>C | p.F477L | Missense | 14/22 | - | 1 |
| 1-206658337-C-A | c.1431C>A | p.F477L | Missense | 14/22 | - | 1 |
| 1-206658337-C-G | c.1431C>G | p.F477L | Missense | 14/22 | - | 1 |
| 1-206658343-C-T | c.1437C>T | p.S479= | Synonymous | 14/22 | - | 1 |
| 1-206658346-G-A | c.1440G>A | p.V480= | Synonymous | 14/22 | - | 3 |
| 1-206658346-G-C | c.1440G>C | p.V480= | Synonymous | 14/22 | - | 2 |
| 1-206658346-G-T | c.1440G>T | p.V480= | Synonymous | 14/22 | - | 3 |
| 1-206658352-A-G | c.1446A>G | p.G482= | Synonymous | 14/22 | - | 1 |
| 1-206658354-C-A | c.1448C>A | p.T483K | Missense | 14/22 | - | 1 |
| 1-206658354-C-T | c.1448C>T | p.T483M | Missense | 14/22 | - | 4 |
| 1-206658355-G-A | c.1449G>A | p.T483= | Synonymous | 14/22 | - | 7 |
| 1-206658355-G-C | c.1449G>C | p.T483= | Synonymous | 14/22 | - | 4 |
| 1-206658355-G-T | c.1449G>T | p.T483= | Synonymous | 14/22 | - | 2 |
| 1-206658368-G-A | c.1462G>A | p.E488K | Missense | 14/22 | - | 1 |
| 1-206658368-G-T | c.1462G>T | p.E488* | Nonsense | 14/22 | - | 1 |
| 1-206658371-C-G | c.1465C>G | p.L489V | Missense | 14/22 | - | 1 |
| 1-206658371-C-T | c.1465C>T | p.L489= | Synonymous | 14/22 | - | 6 |
| 1-206658373-G-A | c.1467G>A | p.L489= | Synonymous | 14/22 | - | 5 |
| 1-206658373-G-C | c.1467G>C | p.L489= | Synonymous | 14/22 | - | 5 |
| 1-206658373-G-T | c.1467G>T | p.L489= | Synonymous | 14/22 | - | 5 |
| 1-206658377-G-A | c.1471G>A | p.A491T | Missense | 14/22 | - | 1 |
| 1-206658378-C-T | c.1472C>T | p.A491V | Missense | 14/22 | - | 1 |
| 1-206658380-G-T | c.1474G>T | p.A492S | Missense | 14/22 | - | 1 |
| 1-206658383-G-A | c.1477G>A | p.A493T | Missense | 14/22 | - | 2 |
| 1-206658386-G-A | c.1480G>A | p.E494K | Missense | 14/22 | - | 1 |
| 1-206658404-C-G | c.1498C>G | p.R500G | Missense | 14/22 | - | 1 |
| 1-206658404-C-T | c.1498C>T | p.R500W | Missense | 14/22 | - | 1 |
| 1-206658405-G-A | c.1499G>A | p.R500Q | Missense | 14/22 | - | 3 |
| 1-206658407-A-G | c.1501A>G | p.T501A | Missense | 14/22 | - | 2 |
| 1-206658535-C-T | c.1508C>T | p.A503V | Missense | 15/22 | - | 2 |
| 1-206658536-G-A | c.1509G>A | p.A503= | Synonymous | 15/22 | - | 1 |
| 1-206658537-G-T | c.1510G>T | p.E504* | Nonsense | 15/22 | - | 1 |
| 1-206658538-A-G | c.1511A>G | p.E504G | Missense | 15/22 | - | 1 |
| 1-206658541-T-C | c.1514T>C | p.V505A | Missense | 15/22 | - | 1 |
| 1-206658549-AGA-TGG | c.1522_1524delinsTGG | p.R508W | Missense | 15/22 | - | 1 |
| 1-206658549-AG-CA | c.1522_1523delinsCA | p.R508Q | Missense | 15/22 | - | 1 |
| 1-206658549-AG-CT | c.1522_1523inv | p.R508L | Missense | 15/22 | - | 1 |
| 1-206658556-C-T | c.1529C>T | p.S510F | Missense | 15/22 | - | 2 |
| 1-206658558-C-T | c.1531C>T | p.Q511* | Nonsense | 15/22 | - | 1 |
| 1-206658563-T-C | c.1536T>C | p.N512= | Synonymous | 15/22 | - | 1 |
| 1-206658567-A-C | c.1540A>C | p.T514P | Missense | 15/22 | - | 1 |
| 1-206658569-G-A | c.1542G>A | p.T514= | Synonymous | 15/22 | - | 5 |
| 1-206658569-G-C | c.1542G>C | p.T514= | Synonymous | 15/22 | - | 2 |
| 1-206658569-G-T | c.1542G>T | p.T514= | Synonymous | 15/22 | - | 2 |
| 1-206658572-G-C | c.1545G>C | p.E515D | Missense | 15/22 | - | 5 |
| 1-206658572-G-T | c.1545G>T | p.E515D | Missense | 15/22 | - | 1 |
| 1-206658577-A-T | c.1550A>T | p.Q517L | Missense | 15/22 | - | 1 |
| 1-206658580-A-T | c.1553A>T | p.E518V | Missense | 15/22 | - | 1 |
| 1-206658583-G-A | c.1556G>A | p.S519N | Missense | 15/22 | - | 1 |
| 1-206658600-C-T | c.1573C>T | p.R525W | Missense | 15/22 | - | 3 |
| 1-206658601-G-A | c.1574G>A | p.R525Q | Missense | 15/22 | - | 4 |
| 1-206658601-G-C | c.1574G>C | p.R525P | Missense | 15/22 | - | 3 |
| 1-206658601-GG-AT | c.1574_1575delinsAT | p.R525H | Missense | 15/22 | - | 1 |
| 1-206658601-G-T | c.1574G>T | p.R525L | Missense | 15/22 | - | 2 |
| 1-206658608-G-A | c.1581G>A | p.L527= | Synonymous | 15/22 | - | 1 |
| 1-206658609-G-A | c.1582G>A | p.V528M | Missense | 15/22 | - | 2 |
| 1-206658611-G-A | c.1584G>A | p.V528= | Synonymous | 15/22 | - | 6 |
| 1-206658611-G-C | c.1584G>C | p.V528= | Synonymous | 15/22 | - | 5 |
| 1-206658611-G-T | c.1584G>T | p.V528= | Synonymous | 15/22 | - | 5 |
| 1-206658614-G-A | c.1587G>A | p.K529= | Synonymous | 15/22 | - | 6 |
| 1-206658614-G-C | c.1587G>C | p.K529N | Missense | 15/22 | - | 7 |
| 1-206658614-G-T | c.1587G>T | p.K529N | Missense | 15/22 | - | 9 |
| 1-206658615-AG-CC | c.1588_1589delinsCC | p.S530P | Missense | 15/22 | - | 1 |
| 1-206658619-GG-AT | c.1592_1593delinsAT | p.R531H | Missense | 15/22 | - | 1 |
| 1-206658621-G-T | c.1594G>T | p.D532Y | Missense | 15/22 | - | 2 |
| 1-206658624-C-T | c.1597C>T | p.Q533* | Nonsense | 15/22 | - | 4 |
| 1-206658635-G-C | c.1608G>C | p.E536D | Missense | 15/22 | - | 2 |
| 1-206658635-G-T | c.1608G>T | p.E536D | Missense | 15/22 | - | 2 |
| 1-206658638-C-T | c.1611C>T | p.D537= | Synonymous | 15/22 | - | 1 |
| 1-206658639-AGA-TGT | c.1612_1614delinsTGT | p.R538C | Missense | 15/22 | - | 1 |
| 1-206658641-A-AC | c.1614_1615insC | p.S539Qfs*23 | SpliceDonorInsertion | 15/22 | - | 1 |
| 1-206658641-A-AG | c.1614_1615insG | p.S539Efs*23 | SpliceDonorInsertion | 15/22 | - | 1 |
| 1-206658641-A-AT | c.1614_1615insT | p.S539* | SpliceDonorInsertion | 15/22 | - | 1 |
| 1-206658640-G-GA | c.1615dup | p.S539Kfs*23 | SpliceDonorInsertion | 15/22 | - | 1 |
| 1-206659360-G-C | c.1616+717G>C | - | IntronicSNV | - | 15/21 | 4 |
| 1-206659922-G-A | c.1616+1279G>A | - | IntronicSNV | - | 15/21 | 1 |
| 1-206660522-G-A | c.1617-729G>A | - | IntronicSNV | - | 15/21 | 2 |
| 1-206661251-GC-G | c.1617del | p.S539Rfs*12 | Frameshift | 16/22 | - | 1 |
| 1-206661255-C-G | c.1621C>G | p.Q541E | Missense | 16/22 | - | 1 |
| 1-206661263-T-G | c.1629T>G | p.I543M | Missense | 16/22 | - | 3 |
| 1-206661264-C-T | c.1630C>T | p.Q544* | Nonsense | 16/22 | - | 1 |
| 1-206661273-T-G | c.1639T>G | p.L547V | Missense | 16/22 | - | 1 |
| 1-206661284-G-C | c.1650G>C | p.M550I | Missense | 16/22 | - | 1 |
| 1-206661285-A-G | c.1651A>G | p.N551D | Missense | 16/22 | - | 4 |
| 1-206661290-C-T | c.1656C>T | p.F552= | Synonymous | 16/22 | - | 1 |
| 1-206661293-C-T | c.1659C>T | p.I553= | Synonymous | 16/22 | - | 1 |
| 1-206661295-A-T | c.1661A>T | p.Y554F | Missense | 16/22 | - | 2 |
| 1-206661298-A-G | c.1664A>G | p.K555R | Missense | 16/22 | - | 1 |
| 1-206661301-A-T | c.1667A>T | p.Q556L | Missense | 16/22 | - | 1 |
| 1-206661306-A-G | c.1672A>G | p.K558E | Missense | 16/22 | - | 1 |
| 1-206661313-C-T | c.1679C>T | p.S560F | Missense | 16/22 | - | 2 |
| 1-206661316-G-T | c.1682G>T | p.R561M | Missense | 16/22 | - | 1 |
| 1-206661322-G-A | c.1688G>A | p.R563K | Missense | 16/22 | - | 1 |
| 1-206661324-C-A | c.1690C>A | p.P564T | Missense | 16/22 | - | 1 |
| 1-206661490-C-T | c.1693+163C>T | - | IntronicSNV | - | 16/21 | 1 |
| 1-206664161-A-C | c.1703A>C | p.Y568S | Missense | 17/22 | - | 1 |
| 1-206664161-A-T | c.1703A>T | p.Y568F | Missense | 17/22 | - | 1 |
| 1-206664166-G-T | c.1708G>T | p.E570* | Nonsense | 17/22 | - | 1 |
| 1-206664170-A-G | c.1712A>G | p.E571G | Missense | 17/22 | - | 1 |
| 1-206664179-A-G | c.1721A>G | p.H574R | Missense | 17/22 | - | 3 |
| 1-206664187-G-A | c.1729G>A | p.D577N | Missense | 17/22 | - | 2 |
| 1-206664206-C-T | c.1733+15C>T | - | IntronicSNV | - | 17/21 | 1 |
| 1-206664300-G-A | c.1733+109G>A | - | IntronicSNV | - | 17/21 | 1 |
| 1-206664396-A-T | c.1733+205A>T | - | IntronicSNV | - | 17/21 | 2 |
| 1-206664407-T-G | c.1733+216T>G | - | IntronicSNV | - | 17/21 | 2 |
| 1-206664439-CT-C | c.1733+257del | - | IntronicDeletion | - | 17/21 | 1 |
| 1-206664985-A-G | c.1738A>G | p.N580D | Missense | 18/22 | - | 1 |
| 1-206664989-T-A | c.1742T>A | p.F581Y | Missense | 18/22 | - | 2 |
| 1-206664989-T-C | c.1742T>C | p.F581S | Missense | 18/22 | - | 1 |
| 1-206664990-C-G | c.1743C>G | p.F581L | Missense | 18/22 | - | 1 |
| 1-206664990-C-T | c.1743C>T | p.F581= | Synonymous | 18/22 | - | 4 |
| 1-206664992-G-C | c.1745G>C | p.S582T | Missense | 18/22 | - | 1 |
| 1-206664994-C-A | c.1747C>A | p.H583N | Missense | 18/22 | - | 2 |
| 1-206665003-A-G | c.1756A>G | p.K586E | Missense | 18/22 | - | 1 |
| 1-206665005-A-T | c.1758A>T | p.K586N | Missense | 18/22 | - | 1 |
| 1-206665007-G-T | c.1760G>T | p.R587I | Missense | 18/22 | - | 3 |
| 1-206665012-C-A | c.1765C>A | p.L589M | Missense | 18/22 | - | 1 |
| 1-206665014-G-A | c.1767G>A | p.L589= | Synonymous | 18/22 | - | 1 |
| 1-206665023-C-T | c.1776C>T | p.F592= | Synonymous | 18/22 | - | 1 |
| 1-206665035-C-T | c.1788C>T | p.C596= | Synonymous | 18/22 | - | 1 |
| 1-206665036-G-A | c.1789G>A | p.V597M | Missense | 18/22 | - | 2 |
| 1-206665041-G-A | c.1794G>A | p.Q598= | Synonymous | 18/22 | - | 1 |
| 1-206665045-T-C | c.1798T>C | p.Y600H | Missense | 18/22 | - | 1 |
| 1-206665050-A-C | c.1803A>C | p.Q601H | Missense | 18/22 | - | 1 |
| 1-206665051-G-A | c.1804G>A | p.A602T | Missense | 18/22 | - | 1 |
| 1-206665052-C-T | c.1805C>T | p.A602V | Missense | 18/22 | - | 15 |
| 1-206665053-G-A | c.1806G>A | p.A602= | Synonymous | 18/22 | - | 3 |
| 1-206665053-G-C | c.1806G>C | p.A602= | Synonymous | 18/22 | - | 2 |
| 1-206665053-G-T | c.1806G>T | p.A602= | Synonymous | 18/22 | - | 2 |
| 1-206665063-AC-TA | c.1816_1817delinsTA | p.T606* | Nonsense | 18/22 | - | 1 |
| 1-206665066-C-T | c.1819C>T | p.H607Y | Missense | 18/22 | - | 2 |
| 1-206665069-G-A | c.1822G>A | p.G608S | Missense | 18/22 | - | 1 |
| 1-206665069-G-T | c.1822G>T | p.G608C | Missense | 18/22 | - | 2 |
| 1-206665076-G-A | c.1829G>A | p.R610K | Missense | 18/22 | - | 1 |
| 1-206665080-G-A | c.1833G>A | p.M611I | Missense | 18/22 | - | 1 |
| 1-206665080-G-C | c.1833G>C | p.M611I | Missense | 18/22 | - | 1 |
| 1-206665080-G-T | c.1833G>T | p.M611I | Missense | 18/22 | - | 1 |
| 1-206665089-G-A | c.1835+7G>A | - | IntronicSNV | - | 18/21 | 1 |
| 1-206665093-C-T | c.1835+11C>T | - | IntronicSNV | - | 18/21 | 1 |
| 1-206665122-C-T | c.1835+40C>T | - | IntronicSNV | - | 18/21 | 1 |
| 1-206665123-C-A | c.1835+41C>A | - | IntronicSNV | - | 18/21 | 1 |
| 1-206665201-G-T | c.1835+119G>T | - | IntronicSNV | - | 18/21 | 1 |
| 1-206665247-G-A | c.1835+165G>A | - | IntronicSNV | - | 18/21 | 1 |
| 1-206666357-GTG-ATC | c.1837_1839delinsATC | p.V613I | Missense | 19/22 | - | 1 |
| 1-206666360-G-A | c.1840G>A | p.V614M | Missense | 19/22 | - | 2 |
| 1-206666360-GTG-TTT | c.1840_1842delinsTTT | p.V614F | Missense | 19/22 | - | 1 |
| 1-206666375-A-G | c.1855A>G | p.N619D | Missense | 19/22 | - | 1 |
| 1-206666379-A-G | c.1859A>G | p.H620R | Missense | 19/22 | - | 2 |
| 1-206666381-C-A | c.1861C>A | p.L621M | Missense | 19/22 | - | 1 |
| 1-206666381-C-T | c.1861C>T | p.L621= | Synonymous | 19/22 | - | 1 |
| 1-206666383-G-A | c.1863G>A | p.L621= | Synonymous | 19/22 | - | 1 |
| 1-206666393-G-A | c.1873G>A | p.G625S | Missense | 19/22 | - | 1 |
| 1-206666405-G-T | c.1885G>T | p.A629S | Missense | 19/22 | - | 1 |
| 1-206666408-G-A | c.1888G>A | p.A630T | Missense | 19/22 | - | 1 |
| 1-206666408-GC-AA | c.1888_1889delinsAA | p.A630N | Missense | 19/22 | - | 1 |
| 1-206666409-C-T | c.1889C>T | p.A630V | Missense | 19/22 | - | 1 |
| 1-206666423-G-A | c.1903G>A | p.A635T | Missense | 19/22 | - | 2 |
| 1-206666428-G-C | c.1908G>C | p.Q636H | Missense | 19/22 | - | 2 |
| 1-206666428-G-T | c.1908G>T | p.Q636H | Missense | 19/22 | - | 3 |
| 1-206666429-G-A | c.1909G>A | p.G637R | Missense | 19/22 | - | 1 |
| 1-206666432-G-A | c.1912G>A | p.V638I | Missense | 19/22 | - | 1 |
| 1-206666434-C-A | c.1914C>A | p.V638= | Synonymous | 19/22 | - | 1 |
| 1-206666434-C-G | c.1914C>G | p.V638= | Synonymous | 19/22 | - | 1 |
| 1-206666434-C-T | c.1914C>T | p.V638= | Synonymous | 19/22 | - | 1 |
| 1-206666435-C-T | c.1915C>T | p.Q639* | Nonsense | 19/22 | - | 1 |
| 1-206666444-C-A | c.1924C>A | p.L642I | Missense | 19/22 | - | 1 |
| 1-206666453-G-A | c.1932+1G>A | - | IntronicSNV | - | 19/21 | 1 |
| 1-206666454-T-G | c.1932+2T>G | - | IntronicSNV | - | 19/21 | 1 |
| 1-206666608-G-A | c.1942G>A | p.E648K | Missense | 20/22 | - | 1 |
| 1-206666608-G-C | c.1942G>C | p.E648Q | Missense | 20/22 | - | 1 |
| 1-206666614-T-C | c.1948T>C | p.S650P | Missense | 20/22 | - | 1 |
| 1-206666614-TC-AA | c.1948_1949delinsAA | p.S650N | Missense | 20/22 | - | 1 |
| 1-206666615-C-G | c.1949C>G | p.S650C | Missense | 20/22 | - | 1 |
| 1-206666619-C-T | c.1953C>T | p.H651= | Synonymous | 20/22 | - | 1 |
| 1-206666623-C-T | c.1957C>T | p.L653F | Missense | 20/22 | - | 2 |
| 1-206666626-C-T | c.1960C>T | p.L654F | Missense | 20/22 | - | 3 |
| 1-206666629-C-T | c.1963C>T | p.Q655* | Nonsense | 20/22 | - | 2 |
| 1-206666631-G-A | c.1965G>A | p.Q655= | Synonymous | 20/22 | - | 2 |
| 1-206666633-A-G | c.1967A>G | p.D656G | Missense | 20/22 | - | 1 |
| 1-206666635-C-T | c.1969C>T | p.R657* | Nonsense | 20/22 | - | 1 |
| 1-206666636-G-A | c.1970G>A | p.R657Q | Missense | 20/22 | - | 1 |
| 1-206666638-G-A | c.1972G>A | p.A658T | Missense | 20/22 | - | 1 |
| 1-206666641-A-G | c.1975A>G | p.K659E | Missense | 20/22 | - | 1 |
| 1-206666645-G-A | c.1979G>A | p.G660E | Missense | 20/22 | - | 7 |
| 1-206666645-G-T | c.1979G>T | p.G660V | Missense | 20/22 | - | 1 |
| 1-206666654-C-T | c.1988C>T | p.A663V | Missense | 20/22 | - | 1 |
| 1-206666657-C-A | c.1991C>A | p.S664* | Nonsense | 20/22 | - | 1 |
| 1-206666658-G-A | c.1992G>A | p.S664= | Synonymous | 20/22 | - | 1 |
| 1-206666658-G-C | c.1992G>C | p.S664= | Synonymous | 20/22 | - | 1 |
| 1-206666658-G-T | c.1992G>T | p.S664= | Synonymous | 20/22 | - | 1 |
| 1-206666659-C-A | c.1993C>A | p.P665T | Missense | 20/22 | - | 3 |
| 1-206666659-C-T | c.1993C>T | p.P665S | Missense | 20/22 | - | 1 |
| 1-206666660-C-T | c.1994C>T | p.P665L | Missense | 20/22 | - | 1 |
| 1-206666661-G-A | c.1995G>A | p.P665= | Synonymous | 20/22 | - | 2 |
| 1-206666667-C-A | c.2001C>A | p.P667= | Synonymous | 20/22 | - | 2 |
| 1-206666668-A-C | c.2002A>C | p.I668L | Missense | 20/22 | - | 1 |
| 1-206666668-A-T | c.2002A>T | p.I668L | Missense | 20/22 | - | 1 |
| 1-206666678-A-C | c.2012A>C | p.Y671S | Missense | 20/22 | - | 4 |
| 1-206666680-C-A | c.2014C>A | p.P672T | Missense | 20/22 | - | 1 |
| 1-206666680-C-G | c.2014C>G | p.P672A | Missense | 20/22 | - | 1 |
| 1-206666682-C-A | c.2016C>A | p.P672= | Synonymous | 20/22 | - | 1 |
| 1-206666689-A-G | c.2023A>G | p.T675A | Missense | 20/22 | - | 2 |
| 1-206666691-A-G | c.2025A>G | p.T675= | Synonymous | 20/22 | - | 1 |
| 1-206666692-C-T | c.2026C>T | p.R676* | Nonsense | 20/22 | - | 1 |
| 1-206666699-A-T | c.2033A>T | p.D678V | Missense | 20/22 | - | 1 |
| 1-206666707-C-T | c.2041C>T | p.L681F | Missense | 20/22 | - | 4 |
| 1-206666708-TC-AA | c.2042_2043delinsAA | p.L681Q | Missense | 20/22 | - | 1 |
| 1-206666708-T-G | c.2042T>G | p.L681R | Missense | 20/22 | - | 1 |
| 1-206666712-G-C | c.2045+1G>C | - | IntronicSNV | - | 20/21 | 1 |
| 1-206666734-T-G | c.2045+23T>G | - | IntronicSNV | - | 20/21 | 3 |
| 1-206666791-G-A | c.2045+80G>A | - | IntronicSNV | - | 20/21 | 1 |
| 1-206667257-C-G | c.2050C>G | p.Q684E | Missense | 21/22 | - | 1 |
| 1-206667263-CT-AG | c.2056_2057inv | p.L686S | Missense | 21/22 | - | 1 |
| 1-206667269-G-A | c.2062G>A | p.E688K | Missense | 21/22 | - | 1 |
| 1-206667272-G-A | c.2065G>A | p.G689R | Missense | 21/22 | - | 1 |
| 1-206667274-G-A | c.2067G>A | p.G689= | Synonymous | 21/22 | - | 1 |
| 1-206667284-C-A | c.2077C>A | p.L693M | Missense | 21/22 | - | 1 |
| 1-206667287-G-A | c.2080G>A | p.A694T | Missense | 21/22 | - | 1 |
| 1-206667287-G-T | c.2080G>T | p.A694S | Missense | 21/22 | - | 1 |
| 1-206667293-G-A | c.2086G>A | p.D696N | Missense | 21/22 | - | 1 |
| 1-206667296-CT-AG | c.2089_2090inv | p.L697S | Missense | 21/22 | - | 1 |
| 1-206667299-CCTG-C | c.2092_2094del | p.L698del | InFrameDeletion | 21/22 | - | 1 |
| 1-206667299-C-T | c.2092C>T | p.L698= | Synonymous | 21/22 | - | 3 |
| 1-206667307-C-A | c.2100C>A | p.N700K | Missense | 21/22 | - | 1 |
| 1-206667307-C-G | c.2100C>G | p.N700K | Missense | 21/22 | - | 1 |
| 1-206667311-CGC-TGG | c.2104_2106delinsTGG | p.R702W | Missense | 21/22 | - | 1 |
| 1-206667311-C-T | c.2104C>T | p.R702C | Missense | 21/22 | - | 5 |
| 1-206667319-C-A | c.2112C>A | p.I704= | Synonymous | 21/22 | - | 1 |
| 1-206667319-C-T | c.2112C>T | p.I704= | Synonymous | 21/22 | - | 1 |
| 1-206667320-G-A | c.2113G>A | p.E705K | Missense | 21/22 | - | 2 |
| 1-206667321-A-G | c.2114A>G | p.E705G | Missense | 21/22 | - | 3 |
| 1-206667323-C-G | c.2116C>G | p.R706G | Missense | 21/22 | - | 1 |
| 1-206667323-C-T | c.2116C>T | p.R706W | Missense | 21/22 | - | 5 |
| 1-206667324-G-A | c.2117G>A | p.R706Q | Missense | 21/22 | - | 1 |
| 1-206667324-G-T | c.2117G>T | p.R706L | Missense | 21/22 | - | 1 |
| 1-206667428-C-T | c.2117+104C>T | - | IntronicSNV | - | 21/21 | 1 |
| 1-206667441-G-A | c.2117+117G>A | - | IntronicSNV | - | 21/21 | 3 |
| 1-206667441-G-C | c.2117+117G>C | - | IntronicSNV | - | 21/21 | 1 |
| 1-206669452-A-G | c.2125A>G | p.R709G | Missense | 22/22 | - | 1 |
| 1-206669455-G-A | c.2128G>A | p.V710I | Missense | 22/22 | - | 1 |
| 1-206669455-G-C | c.2128G>C | p.V710L | Missense | 22/22 | - | 1 |
| 1-206669457-C-T | c.2130C>T | p.V710= | Synonymous | 22/22 | - | 3 |
| 1-206669458-C-T | c.2131C>T | p.P711S | Missense | 22/22 | - | 3 |
| 1-206669460-A-C | c.2133A>C | p.P711= | Synonymous | 22/22 | - | 1 |
| 1-206669460-A-G | c.2133A>G | p.P711= | Synonymous | 22/22 | - | 2 |
| 1-206669460-A-T | c.2133A>T | p.P711= | Synonymous | 22/22 | - | 1 |
| 1-206669464-C-T | c.2137C>T | p.P713S | Missense | 22/22 | - | 1 |
| 1-206669465-C-T | c.2138C>T | p.P713L | Missense | 22/22 | - | 24 |
| 1-206669466-T-A | c.2139T>A | p.P713= | Synonymous | 22/22 | - | 1 |
| 1-206669466-T-C | c.2139T>C | p.P713= | Synonymous | 22/22 | - | 1 |
| 1-206669466-T-G | c.2139T>G | p.P713= | Synonymous | 22/22 | - | 1 |
| 1-206669467-C-G | c.2140C>G | p.P714A | Missense | 22/22 | - | 2 |
| 1-206669470-G-C | c.2143G>C | p.D715H | Missense | 22/22 | - | 1 |
| 1-206669472-T-A | c.2145T>A | p.D715E | Missense | 22/22 | - | 1 |
| 1-206669472-T-G | c.2145T>G | p.D715E | Missense | 22/22 | - | 1 |