| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-177027218-C-T | c.7C>T | p.P3S | Missense | 1/6 | - | 1 |
| 5-177027247-C-A | c.36C>A | p.P12= | Synonymous | 1/6 | - | 1 |
| 5-177027247-C-G | c.36C>G | p.P12= | Synonymous | 1/6 | - | 1 |
| 5-177027247-C-T | c.36C>T | p.P12= | Synonymous | 1/6 | - | 1 |
| 5-177027249-G-A | c.38G>A | p.W13* | Nonsense | 1/6 | - | 3 |
| 5-177027251-G-A | c.40G>A | p.E14K | Missense | 1/6 | - | 1 |
| 5-177027261-G-A | c.50G>A | p.R17K | Missense | 1/6 | - | 1 |
| 5-177027261-G-C | c.50G>C | p.R17T | Missense | 1/6 | - | 1 |
| 5-177027262-G-T | c.50+1G>T | - | IntronicSNV | - | 1/5 | 1 |
| 5-177027263-T-G | c.50+2T>G | - | IntronicSNV | - | 1/5 | 1 |
| 5-177027405-T-C | c.50+144T>C | - | IntronicSNV | - | 1/5 | 2 |
| 5-177031181-T-G | c.52T>G | p.S18A | Missense | 2/6 | - | 1 |
| 5-177031184-G-A | c.55G>A | p.G19R | Missense | 2/6 | - | 1 |
| 5-177031184-G-C | c.55G>C | p.G19R | Missense | 2/6 | - | 1 |
| 5-177031185-G-A | c.56G>A | p.G19E | Missense | 2/6 | - | 1 |
| 5-177031186-G-A | c.57G>A | p.G19= | Synonymous | 2/6 | - | 1 |
| 5-177031191-T-C | c.62T>C | p.L21P | Missense | 2/6 | - | 1 |
| 5-177031192-C-A | c.63C>A | p.L21= | Synonymous | 2/6 | - | 2 |
| 5-177031192-C-G | c.63C>G | p.L21= | Synonymous | 2/6 | - | 2 |
| 5-177031192-C-T | c.63C>T | p.L21= | Synonymous | 2/6 | - | 2 |
| 5-177031194-C-T | c.65C>T | p.S22F | Missense | 2/6 | - | 1 |
| 5-177031197-G-A | c.68G>A | p.G23D | Missense | 2/6 | - | 1 |
| 5-177031198-C-A | c.69C>A | p.G23= | Synonymous | 2/6 | - | 2 |
| 5-177031198-C-G | c.69C>G | p.G23= | Synonymous | 2/6 | - | 2 |
| 5-177031198-C-T | c.69C>T | p.G23= | Synonymous | 2/6 | - | 2 |
| 5-177031200-G-C | c.71G>C | p.G24A | Missense | 2/6 | - | 3 |
| 5-177031201-C-A | c.72C>A | p.G24= | Synonymous | 2/6 | - | 1 |
| 5-177031201-C-G | c.72C>G | p.G24= | Synonymous | 2/6 | - | 1 |
| 5-177031201-C-T | c.72C>T | p.G24= | Synonymous | 2/6 | - | 1 |
| 5-177031208-C-T | c.79C>T | p.R27W | Missense | 2/6 | - | 2 |
| 5-177031214-T-C | c.85T>C | p.C29R | Missense | 2/6 | - | 1 |
| 5-177031218-C-G | c.89C>G | p.S30C | Missense | 2/6 | - | 1 |
| 5-177031219-C-T | c.90C>T | p.S30= | Synonymous | 2/6 | - | 1 |
| 5-177031220-G-A | c.91G>A | p.V31I | Missense | 2/6 | - | 1 |
| 5-177031221-T-C | c.92T>C | p.V31A | Missense | 2/6 | - | 1 |
| 5-177031223-T-C | c.94T>C | p.F32L | Missense | 2/6 | - | 1 |
| 5-177031225-C-A | c.96C>A | p.F32L | Missense | 2/6 | - | 1 |
| 5-177031225-C-G | c.96C>G | p.F32L | Missense | 2/6 | - | 1 |
| 5-177031225-C-T | c.96C>T | p.F32= | Synonymous | 2/6 | - | 1 |
| 5-177031246-C-A | c.117C>A | p.L39= | Synonymous | 2/6 | - | 1 |
| 5-177031246-C-G | c.117C>G | p.L39= | Synonymous | 2/6 | - | 1 |
| 5-177031246-C-T | c.117C>T | p.L39= | Synonymous | 2/6 | - | 1 |
| 5-177031249-G-A | c.120G>A | p.S40= | Synonymous | 2/6 | - | 1 |
| 5-177031249-G-C | c.120G>C | p.S40= | Synonymous | 2/6 | - | 1 |
| 5-177031249-G-T | c.120G>T | p.S40= | Synonymous | 2/6 | - | 1 |
| 5-177031251-T-C | c.122T>C | p.L41P | Missense | 2/6 | - | 6 |
| 5-177031253-G-C | c.124G>C | p.G42R | Missense | 2/6 | - | 1 |
| 5-177031256-T-G | c.127T>G | p.F43V | Missense | 2/6 | - | 1 |
| 5-177031257-T-G | c.128T>G | p.F43C | Missense | 2/6 | - | 1 |
| 5-177031259-T-C | c.130T>C | p.F44L | Missense | 2/6 | - | 1 |
| 5-177031263-C-T | c.134C>T | p.S45F | Missense | 2/6 | - | 1 |
| 5-177031265-C-T | c.136C>T | p.L46= | Synonymous | 2/6 | - | 1 |
| 5-177031283-A-G | c.154A>G | p.S52G | Missense | 2/6 | - | 1 |
| 5-177031285-C-G | c.156C>G | p.S52R | Missense | 2/6 | - | 1 |
| 5-177031290-C-G | c.161C>G | p.S54C | Missense | 2/6 | - | 1 |
| 5-177031293-G-A | c.164G>A | p.G55E | Missense | 2/6 | - | 1 |
| 5-177031296-A-T | c.167A>T | p.D56V | Missense | 2/6 | - | 1 |
| 5-177031297-C-A | c.168C>A | p.D56E | Missense | 2/6 | - | 1 |
| 5-177031297-C-G | c.168C>G | p.D56E | Missense | 2/6 | - | 1 |
| 5-177031298-G-A | c.169G>A | p.V57M | Missense | 2/6 | - | 1 |
| 5-177031304-C-T | c.175C>T | p.R59W | Missense | 2/6 | - | 2 |
| 5-177031305-G-A | c.176G>A | p.R59Q | Missense | 2/6 | - | 2 |
| 5-177031311-T-C | c.182T>C | p.V61A | Missense | 2/6 | - | 2 |
| 5-177031313-AGG-CAT | c.184_186delinsCAT | p.R62H | Missense | 2/6 | - | 1 |
| 5-177031313-AGG-TGT | c.184_186delinsTGT | p.R62C | Missense | 2/6 | - | 1 |
| 5-177031328-G-A | c.199G>A | p.E67K | Missense | 2/6 | - | 1 |
| 5-177031335-C-T | c.206C>T | p.S69L | Missense | 2/6 | - | 1 |
| 5-177031338-G-A | c.209G>A | p.G70D | Missense | 2/6 | - | 1 |
| 5-177031345-C-T | c.216C>T | p.P72= | Synonymous | 2/6 | - | 3 |
| 5-177031346-C-T | c.217C>T | p.R73C | Missense | 2/6 | - | 1 |
| 5-177031347-G-A | c.218G>A | p.R73H | Missense | 2/6 | - | 1 |
| 5-177031347-G-T | c.218G>T | p.R73L | Missense | 2/6 | - | 1 |
| 5-177031348-T-A | c.219T>A | p.R73= | Synonymous | 2/6 | - | 4 |
| 5-177031348-T-C | c.219T>C | p.R73= | Synonymous | 2/6 | - | 24 |
| 5-177031348-T-G | c.219T>G | p.R73= | Synonymous | 2/6 | - | 4 |
| 5-177031351-C-G | c.222C>G | p.A74= | Synonymous | 2/6 | - | 1 |
| 5-177031352-T-C | c.223T>C | p.C75R | Missense | 2/6 | - | 2 |
| 5-177031352-T-G | c.223T>G | p.C75G | Missense | 2/6 | - | 1 |
| 5-177031354-C-G | c.225C>G | p.C75W | Missense | 2/6 | - | 1 |
| 5-177031355-C-T | c.226C>T | p.P76S | Missense | 2/6 | - | 1 |
| 5-177031356-C-T | c.227C>T | p.P76L | Missense | 2/6 | - | 2 |
| 5-177031357-C-T | c.228C>T | p.P76= | Synonymous | 2/6 | - | 2 |
| 5-177031353-GC-G | c.230del | p.P77Qfs*43 | Frameshift | 2/6 | - | 1 |
| 5-177031353-G-GC | c.230dup | p.E78Rfs*5 | Frameshift | 2/6 | - | 1 |
| 5-177031359-C-T | c.230C>T | p.P77L | Missense | 2/6 | - | 1 |
| 5-177031360-A-C | c.231A>C | p.P77= | Synonymous | 2/6 | - | 3 |
| 5-177031360-A-G | c.231A>G | p.P77= | Synonymous | 2/6 | - | 3 |
| 5-177031360-A-T | c.231A>T | p.P77= | Synonymous | 2/6 | - | 2 |
| 5-177031361-G-A | c.232G>A | p.E78K | Missense | 2/6 | - | 1 |
| 5-177031362-A-G | c.233A>G | p.E78G | Missense | 2/6 | - | 1 |
| 5-177031363-G-C | c.234G>C | p.E78D | Missense | 2/6 | - | 1 |
| 5-177031363-G-T | c.234G>T | p.E78D | Missense | 2/6 | - | 1 |
| 5-177031365-C-T | c.236C>T | p.P79L | Missense | 2/6 | - | 1 |
| 5-177031367-C-G | c.238C>G | p.P80A | Missense | 2/6 | - | 1 |
| 5-177031369-C-A | c.240C>A | p.P80= | Synonymous | 2/6 | - | 1 |
| 5-177031369-C-G | c.240C>G | p.P80= | Synonymous | 2/6 | - | 1 |
| 5-177031369-C-T | c.240C>T | p.P80= | Synonymous | 2/6 | - | 3 |
| 5-177031370-C-CGCCGG | c.241_242insGCCGG | p.P81Rfs*41 | Frameshift | 2/6 | - | 1 |
| 5-177031371-C-T | c.242C>T | p.P81L | Missense | 2/6 | - | 2 |
| 5-177031372-T-G | c.243T>G | p.P81= | Synonymous | 2/6 | - | 2 |
| 5-177031373-G-A | c.244G>A | p.E82K | Missense | 2/6 | - | 1 |
| 5-177031374-A-G | c.245A>G | p.E82G | Missense | 2/6 | - | 1 |
| 5-177031375-G-A | c.246G>A | p.E82= | Synonymous | 2/6 | - | 1 |
| 5-177031380-G-A | c.251G>A | p.W84* | Nonsense | 2/6 | - | 2 |
| 5-177031381-G-A | c.252G>A | p.W84* | Nonsense | 2/6 | - | 1 |
| 5-177031383-A-G | c.254A>G | p.E85G | Missense | 2/6 | - | 1 |
| 5-177031385-G-A | c.256G>A | p.E86K | Missense | 2/6 | - | 1 |
| 5-177031387-A-T | c.258A>T | p.E86D | Missense | 2/6 | - | 2 |
| 5-177031390-C-T | c.261C>T | p.D87= | Synonymous | 2/6 | - | 1 |
| 5-177031391-G-A | c.262G>A | p.A88T | Missense | 2/6 | - | 4 |
| 5-177031395-C-T | c.266C>T | p.S89F | Missense | 2/6 | - | 2 |
| 5-177031397-T-G | c.268T>G | p.W90G | Missense | 2/6 | - | 1 |
| 5-177031398-G-T | c.269G>T | p.W90L | Missense | 2/6 | - | 1 |
| 5-177031401-G-T | c.272G>T | p.G91V | Missense | 2/6 | - | 1 |
| 5-177031403-C-T | c.274C>T | p.P92S | Missense | 2/6 | - | 1 |
| 5-177031404-C-A | c.275C>A | p.P92H | Missense | 2/6 | - | 1 |
| 5-177031401-G-GC | c.277dup | p.H93Pfs*73 | Frameshift | 2/6 | - | 8 |
| 5-177031406-C-A | c.277C>A | p.H93N | Missense | 2/6 | - | 2 |
| 5-177031406-C-G | c.277C>G | p.H93D | Missense | 2/6 | - | 1 |
| 5-177031406-C-T | c.277C>T | p.H93Y | Missense | 2/6 | - | 8 |
| 5-177031407-A-G | c.278A>G | p.H93R | Missense | 2/6 | - | 2 |
| 5-177031409-C-T | c.280C>T | p.R94C | Missense | 2/6 | - | 2 |
| 5-177031410-G-T | c.281G>T | p.R94L | Missense | 2/6 | - | 1 |
| 5-177031413-T-G | c.284T>G | p.L95R | Missense | 2/6 | - | 1 |
| 5-177031418-G-C | c.289G>C | p.V97L | Missense | 2/6 | - | 1 |
| 5-177031418-G-T | c.289G>T | p.V97L | Missense | 2/6 | - | 1 |
| 5-177031420-G-A | c.291G>A | p.V97= | Synonymous | 2/6 | - | 1 |
| 5-177031432-C-T | c.303C>T | p.F101= | Synonymous | 2/6 | - | 1 |
| 5-177031433-C-G | c.304C>G | p.R102G | Missense | 2/6 | - | 1 |
| 5-177031433-C-T | c.304C>T | p.R102C | Missense | 2/6 | - | 4 |
| 5-177031434-G-A | c.305G>A | p.R102H | Missense | 2/6 | - | 2 |
| 5-177031434-GC-AA | c.305_306delinsAA | p.R102Q | Missense | 2/6 | - | 1 |
| 5-177031435-C-A | c.306C>A | p.R102= | Synonymous | 2/6 | - | 1 |
| 5-177031435-C-G | c.306C>G | p.R102= | Synonymous | 2/6 | - | 1 |
| 5-177031435-C-T | c.306C>T | p.R102= | Synonymous | 2/6 | - | 2 |
| 5-177031436-G-A | c.307G>A | p.E103K | Missense | 2/6 | - | 6 |
| 5-177031439-C-T | c.310C>T | p.R104C | Missense | 2/6 | - | 2 |
| 5-177031441-C-G | c.312C>G | p.R104= | Synonymous | 2/6 | - | 1 |
| 5-177031443-T-C | c.314T>C | p.F105S | Missense | 2/6 | - | 1 |
| 5-177031445-G-A | c.316G>A | p.E106K | Missense | 2/6 | - | 1 |
| 5-177031448-G-C | c.319G>C | p.E107Q | Missense | 2/6 | - | 2 |
| 5-177031458-T-G | c.329T>G | p.V110G | Missense | 2/6 | - | 1 |
| 5-177031459-C-A | c.330C>A | p.V110= | Synonymous | 2/6 | - | 4 |
| 5-177031459-C-G | c.330C>G | p.V110= | Synonymous | 2/6 | - | 5 |
| 5-177031459-C-T | c.330C>T | p.V110= | Synonymous | 2/6 | - | 6 |
| 5-177031462-C-A | c.333C>A | p.F111L | Missense | 2/6 | - | 1 |
| 5-177031463-G-A | c.334G>A | p.V112M | Missense | 2/6 | - | 1 |
| 5-177031466-C-T | c.337C>T | p.P113S | Missense | 2/6 | - | 1 |
| 5-177031468-C-A | c.339C>A | p.P113= | Synonymous | 2/6 | - | 3 |
| 5-177031468-C-G | c.339C>G | p.P113= | Synonymous | 2/6 | - | 2 |
| 5-177031468-C-T | c.339C>T | p.P113= | Synonymous | 2/6 | - | 2 |
| 5-177031469-C-T | c.340C>T | p.H114Y | Missense | 2/6 | - | 1 |
| 5-177031471-C-T | c.342C>T | p.H114= | Synonymous | 2/6 | - | 1 |
| 5-177031478-C-T | c.349C>T | p.R117C | Missense | 2/6 | - | 1 |
| 5-177031479-G-A | c.350G>A | p.R117H | Missense | 2/6 | - | 1 |
| 5-177031485-T-G | c.356T>G | p.L119R | Missense | 2/6 | - | 1 |
| 5-177031487-AG-TT | c.358_359delinsTT | p.S120F | Missense | 2/6 | - | 1 |
| 5-177031489-C-T | c.360C>T | p.S120= | Synonymous | 2/6 | - | 1 |
| 5-177031493-A-C | c.364A>C | p.K122Q | Missense | 2/6 | - | 1 |
| 5-177031496-A-C | c.367A>C | p.K123Q | Missense | 2/6 | - | 1 |
| 5-177031502-C-A | c.373C>A | p.R125= | Synonymous | 2/6 | - | 1 |
| 5-177031504-G-A | c.375G>A | p.R125= | Synonymous | 2/6 | - | 1 |
| 5-177031504-G-C | c.375G>C | p.R125= | Synonymous | 2/6 | - | 1 |
| 5-177031504-G-T | c.375G>T | p.R125= | Synonymous | 2/6 | - | 1 |
| 5-177031503-G-T | c.374G>T | p.R125L | Missense | 2/6 | - | 1 |
| 5-177031510-C-T | c.381C>T | p.H127= | Synonymous | 2/6 | - | 2 |
| 5-177031512-T-G | c.383T>G | p.I128S | Missense | 2/6 | - | 1 |
| 5-177031513-C-A | c.384C>A | p.I128= | Synonymous | 2/6 | - | 1 |
| 5-177031513-C-T | c.384C>T | p.I128= | Synonymous | 2/6 | - | 1 |
| 5-177031517-G-C | c.388G>C | p.V130L | Missense | 2/6 | - | 1 |
| 5-177031517-G-T | c.388G>T | p.V130L | Missense | 2/6 | - | 1 |
| 5-177031527-A-G | c.398A>G | p.Q133R | Missense | 2/6 | - | 3 |
| 5-177031528-G-A | c.399G>A | p.Q133= | Synonymous | 2/6 | - | 1 |
| 5-177031529-G-A | c.400G>A | p.V134M | Missense | 2/6 | - | 2 |
| 5-177031540-C-T | c.411C>T | p.F137= | Synonymous | 2/6 | - | 2 |
| 5-177031541-AG-CA | c.412_413delinsCA | p.R138Q | Missense | 2/6 | - | 1 |
| 5-177031602-C-A | c.413+60C>A | - | IntronicSNV | - | 2/5 | 1 |
| 5-177031602-C-G | c.413+60C>G | - | IntronicSNV | - | 2/5 | 4 |
| 5-177031948-G-A | c.413+406G>A | - | IntronicSNV | - | 2/5 | 4 |
| 5-177031954-A-G | c.413+412A>G | - | IntronicSNV | - | 2/5 | 4 |
| 5-177031967-T-C | c.413+425T>C | - | IntronicSNV | - | 2/5 | 3 |
| 5-177031998-C-T | c.413+456C>T | - | IntronicSNV | - | 2/5 | 1 |
| 5-177032050-C-G | c.413+508C>G | - | IntronicSNV | - | 2/5 | 7 |
| 5-177032129-AC-A | c.413+595del | - | IntronicDeletion | - | 2/5 | 1 |
| 5-177032372-G-C | c.413+830G>C | - | IntronicSNV | - | 2/5 | 2 |
| 5-177034153-C-T | c.414-150C>T | - | IntronicSNV | - | 2/5 | 1 |
| 5-177034283-G-A | c.414-20G>A | - | IntronicSNV | - | 2/5 | 1 |
| 5-177034309-C-A | c.420C>A | p.N140K | Missense | 3/6 | - | 1 |
| 5-177034309-C-G | c.420C>G | p.N140K | Missense | 3/6 | - | 1 |
| 5-177034310-C-T | c.421C>T | p.R141W | Missense | 3/6 | - | 9 |
| 5-177034312-G-A | c.423G>A | p.R141= | Synonymous | 3/6 | - | 1 |
| 5-177034318-G-A | c.429G>A | p.A143= | Synonymous | 3/6 | - | 2 |
| 5-177034327-C-T | c.438C>T | p.N146= | Synonymous | 3/6 | - | 1 |
| 5-177034328-G-A | c.439G>A | p.V147M | Missense | 3/6 | - | 1 |
| 5-177034330-G-A | c.441G>A | p.V147= | Synonymous | 3/6 | - | 1 |
| 5-177034331-G-A | c.442G>A | p.G148S | Missense | 3/6 | - | 1 |
| 5-177034337-C-A | c.448C>A | p.L150M | Missense | 3/6 | - | 1 |
| 5-177034343-A-G | c.454A>G | p.S152G | Missense | 3/6 | - | 1 |
| 5-177034344-G-T | c.455G>T | p.S152I | Missense | 3/6 | - | 1 |
| 5-177034352-A-G | c.463A>G | p.S155G | Missense | 3/6 | - | 1 |
| 5-177034352-AG-TA | c.463_464delinsTA | p.S155Y | Missense | 3/6 | - | 1 |
| 5-177034354-C-A | c.465C>A | p.S155R | Missense | 3/6 | - | 1 |
| 5-177034355-A-G | c.466A>G | p.T156A | Missense | 3/6 | - | 1 |
| 5-177034356-C-G | c.467C>G | p.T156R | Missense | 3/6 | - | 1 |
| 5-177034356-C-T | c.467C>T | p.T156M | Missense | 3/6 | - | 4 |
| 5-177034365-T-C | c.476T>C | p.I159T | Missense | 3/6 | - | 1 |
| 5-177034366-T-C | c.477T>C | p.I159= | Synonymous | 3/6 | - | 3 |
| 5-177034371-T-C | c.482T>C | p.M161T | Missense | 3/6 | - | 2 |
| 5-177034374-A-G | c.485A>G | p.H162R | Missense | 3/6 | - | 1 |
| 5-177034375-C-T | c.486C>T | p.H162= | Synonymous | 3/6 | - | 3 |
| 5-177034376-G-A | c.487G>A | p.D163N | Missense | 3/6 | - | 1 |
| 5-177034379-G-A | c.490G>A | p.V164I | Missense | 3/6 | - | 1 |
| 5-177034379-G-T | c.490G>T | p.V164F | Missense | 3/6 | - | 1 |
| 5-177034384-C-T | c.495C>T | p.D165= | Synonymous | 3/6 | - | 1 |
| 5-177034386-T-A | c.497T>A | p.L166Q | Missense | 3/6 | - | 1 |
| 5-177034388-C-T | c.499C>T | p.L167F | Missense | 3/6 | - | 2 |
| 5-177034394-C-A | c.505C>A | p.L169I | Missense | 3/6 | - | 1 |
| 5-177034395-T-A | c.506T>A | p.L169H | Missense | 3/6 | - | 1 |
| 5-177034399-C-T | c.510C>T | p.N170= | Synonymous | 3/6 | - | 2 |
| 5-177034406-C-T | c.517C>T | p.L173= | Synonymous | 3/6 | - | 1 |
| 5-177034409-G-C | c.520G>C | p.D174H | Missense | 3/6 | - | 1 |
| 5-177034416-G-A | c.527G>A | p.G176D | Missense | 3/6 | - | 1 |
| 5-177034421-C-T | c.532C>T | p.P178S | Missense | 3/6 | - | 2 |
| 5-177034420-TC-T | c.533del | p.P178Lfs*110 | Frameshift | 3/6 | - | 1 |
| 5-177034424-G-A | c.535G>A | p.E179K | Missense | 3/6 | - | 1 |
| 5-177034427-G-A | c.538G>A | p.A180T | Missense | 3/6 | - | 1 |
| 5-177034428-C-T | c.539C>T | p.A180V | Missense | 3/6 | - | 1 |
| 5-177034434-C-T | c.545C>T | p.P182L | Missense | 3/6 | - | 3 |
| 5-177034435-C-T | c.546C>T | p.P182= | Synonymous | 3/6 | - | 1 |
| 5-177034441-C-A | c.552C>A | p.H184Q | Missense | 3/6 | - | 1 |
| 5-177034441-C-G | c.552C>G | p.H184Q | Missense | 3/6 | - | 1 |
| 5-177034442-G-A | c.553G>A | p.V185M | Missense | 3/6 | - | 1 |
| 5-177034442-G-T | c.553G>T | p.V185L | Missense | 3/6 | - | 1 |
| 5-177034446-C-A | c.557C>A | p.A186D | Missense | 3/6 | - | 16 |
| 5-177034452-C-G | c.563C>G | p.P188R | Missense | 3/6 | - | 2 |
| 5-177034452-C-T | c.563C>T | p.P188L | Missense | 3/6 | - | 2 |
| 5-177034457-C-A | c.568C>A | p.L190I | Missense | 3/6 | - | 1 |
| 5-177034457-C-T | c.568C>T | p.L190F | Missense | 3/6 | - | 3 |
| 5-177034458-T-G | c.569T>G | p.L190R | Missense | 3/6 | - | 2 |
| 5-177034476-A-G | c.587A>G | p.Y196C | Missense | 3/6 | - | 1 |
| 5-177034478-A-G | c.589A>G | p.K197E | Missense | 3/6 | - | 1 |
| 5-177034483-C-A | c.594C>A | p.T198= | Synonymous | 3/6 | - | 1 |
| 5-177034483-C-G | c.594C>G | p.T198= | Synonymous | 3/6 | - | 1 |
| 5-177034483-C-T | c.594C>T | p.T198= | Synonymous | 3/6 | - | 1 |
| 5-177034484-T-C | c.595T>C | p.Y199H | Missense | 3/6 | - | 1 |
| 5-177034486-T-A | c.597T>A | p.Y199* | Nonsense | 3/6 | - | 1 |
| 5-177034486-T-C | c.597T>C | p.Y199= | Synonymous | 3/6 | - | 2 |
| 5-177034488-T-C | c.599T>C | p.V200A | Missense | 3/6 | - | 1 |
| 5-177034493-G-C | c.604G>C | p.G202R | Missense | 3/6 | - | 1 |
| 5-177034503-T-C | c.614T>C | p.L205P | Missense | 3/6 | - | 2 |
| 5-177034506-T-C | c.617T>C | p.L206P | Missense | 3/6 | - | 16 |
| 5-177034506-T-G | c.617T>G | p.L206R | Missense | 3/6 | - | 1 |
| 5-177034509-C-T | c.620C>T | p.S207F | Missense | 3/6 | - | 1 |
| 5-177034517-C-T | c.628C>T | p.H210Y | Missense | 3/6 | - | 2 |
| 5-177034523-C-T | c.634C>T | p.R212W | Missense | 3/6 | - | 1 |
| 5-177034684-C-G | c.639+156C>G | - | IntronicSNV | - | 3/5 | 1 |
| 5-177034786-T-C | c.639+258T>C | - | IntronicSNV | - | 3/5 | 2 |
| 5-177035311-C-G | c.640-229C>G | - | IntronicSNV | - | 3/5 | 1 |
| 5-177035311-C-T | c.640-229C>T | - | IntronicSNV | - | 3/5 | 1 |
| 5-177035541-G-A | c.641G>A | p.C214Y | Missense | 4/6 | - | 10 |
| 5-177035542-C-T | c.642C>T | p.C214= | Synonymous | 4/6 | - | 1 |
| 5-177035557-C-A | c.657C>A | p.N219K | Missense | 4/6 | - | 1 |
| 5-177035558-C-T | c.658C>T | p.R220C | Missense | 4/6 | - | 2 |
| 5-177035559-G-A | c.659G>A | p.R220H | Missense | 4/6 | - | 1 |
| 5-177035561-T-C | c.661T>C | p.F221L | Missense | 4/6 | - | 1 |
| 5-177035563-C-G | c.663C>G | p.F221L | Missense | 4/6 | - | 1 |
| 5-177035563-C-A | c.663C>A | p.F221L | Missense | 4/6 | - | 2 |
| 5-177035566-G-C | c.666G>C | p.W222C | Missense | 4/6 | - | 1 |
| 5-177035567-G-A | c.667G>A | p.G223S | Missense | 4/6 | - | 1 |
| 5-177035571-G-A | c.671G>A | p.W224* | Nonsense | 4/6 | - | 2 |
| 5-177035572-G-C | c.672G>C | p.W224C | Missense | 4/6 | - | 1 |
| 5-177035573-G-A | c.673G>A | p.G225S | Missense | 4/6 | - | 1 |
| 5-177035574-G-T | c.674G>T | p.G225V | Missense | 4/6 | - | 2 |
| 5-177035576-C-T | c.676C>T | p.R226C | Missense | 4/6 | - | 2 |
| 5-177035577-G-A | c.677G>A | p.R226H | Missense | 4/6 | - | 2 |
| 5-177035579-G-A | c.679G>A | p.E227K | Missense | 4/6 | - | 7 |
| 5-177035584-C-T | c.684C>T | p.D228= | Synonymous | 4/6 | - | 2 |
| 5-177035581-GGAC-G | c.687_689del | p.D229del | InFrameDeletion | 4/6 | - | 1 |
| 5-177035597-C-T | c.697C>T | p.R233W | Missense | 4/6 | - | 2 |
| 5-177035598-G-A | c.698G>A | p.R233Q | Missense | 4/6 | - | 1 |
| 5-177035598-G-T | c.698G>T | p.R233L | Missense | 4/6 | - | 1 |
| 5-177035600-C-A | c.700C>A | p.R234S | Missense | 4/6 | - | 1 |
| 5-177035600-C-T | c.700C>T | p.R234C | Missense | 4/6 | - | 2 |
| 5-177035603-A-G | c.703A>G | p.I235V | Missense | 4/6 | - | 1 |
| 5-177035608-G-T | c.708G>T | p.K236N | Missense | 4/6 | - | 1 |
| 5-177035612-G-T | c.712G>T | p.A238S | Missense | 4/6 | - | 1 |
| 5-177035618-C-T | c.718C>T | p.L240F | Missense | 4/6 | - | 1 |
| 5-177035622-A-G | c.722A>G | p.Q241R | Missense | 4/6 | - | 1 |
| 5-177035624-G-A | c.723+1G>A | - | IntronicSNV | - | 4/5 | 1 |
| 5-177035914-T-C | c.727T>C | p.F243L | Missense | 5/6 | - | 1 |
| 5-177035916-C-A | c.729C>A | p.F243L | Missense | 5/6 | - | 1 |
| 5-177035916-C-G | c.729C>G | p.F243L | Missense | 5/6 | - | 1 |
| 5-177035915-T-C | c.728T>C | p.F243S | Missense | 5/6 | - | 1 |
| 5-177035917-C-T | c.730C>T | p.R244C | Missense | 5/6 | - | 1 |
| 5-177035918-G-A | c.731G>A | p.R244H | Missense | 5/6 | - | 4 |
| 5-177035919-C-T | c.732C>T | p.R244= | Synonymous | 5/6 | - | 2 |
| 5-177035920-C-T | c.733C>T | p.P245S | Missense | 5/6 | - | 1 |
| 5-177035922-C-A | c.735C>A | p.P245= | Synonymous | 5/6 | - | 1 |
| 5-177035922-C-G | c.735C>G | p.P245= | Synonymous | 5/6 | - | 1 |
| 5-177035922-C-T | c.735C>T | p.P245= | Synonymous | 5/6 | - | 1 |
| 5-177035924-C-T | c.737C>T | p.S246L | Missense | 5/6 | - | 2 |
| 5-177035930-T-C | c.743T>C | p.I248T | Missense | 5/6 | - | 1 |
| 5-177035939-G-A | c.752G>A | p.G251E | Missense | 5/6 | - | 2 |
| 5-177035942-A-G | c.755A>G | p.Y252C | Missense | 5/6 | - | 1 |
| 5-177035944-A-C | c.757A>C | p.K253Q | Missense | 5/6 | - | 1 |
| 5-177035944-A-G | c.757A>G | p.K253E | Missense | 5/6 | - | 2 |
| 5-177035944-A-T | c.757A>T | p.K253* | Nonsense | 5/6 | - | 1 |
| 5-177035948-C-T | c.761C>T | p.T254I | Missense | 5/6 | - | 1 |
| 5-177035953-C-T | c.766C>T | p.R256C | Missense | 5/6 | - | 2 |
| 5-177035954-G-A | c.767G>A | p.R256H | Missense | 5/6 | - | 1 |
| 5-177035957-A-G | c.770A>G | p.H257R | Missense | 5/6 | - | 1 |
| 5-177035964-T-C | c.777T>C | p.H259= | Synonymous | 5/6 | - | 25 |
| 5-177035969-C-A | c.782C>A | p.P261Q | Missense | 5/6 | - | 1 |
| 5-177035971-G-T | c.784G>T | p.A262S | Missense | 5/6 | - | 4 |
| 5-177035977-C-T | c.790C>T | p.R264W | Missense | 5/6 | - | 1 |
| 5-177035978-G-A | c.791G>A | p.R264Q | Missense | 5/6 | - | 1 |
| 5-177035983-A-T | c.796A>T | p.R266W | Missense | 5/6 | - | 1 |
| 5-177035984-G-A | c.797G>A | p.R266K | Missense | 5/6 | - | 1 |
| 5-177035995-C-T | c.808C>T | p.R270C | Missense | 5/6 | - | 35 |
| 5-177035996-G-A | c.809G>A | p.R270H | Missense | 5/6 | - | 2 |
| 5-177036000-C-T | c.813C>T | p.I271= | Synonymous | 5/6 | - | 1 |
| 5-177036001-G-A | c.814G>A | p.A272T | Missense | 5/6 | - | 4 |
| 5-177036002-C-T | c.815C>T | p.A272V | Missense | 5/6 | - | 1 |
| 5-177036004-G-T | c.817G>T | p.A273S | Missense | 5/6 | - | 1 |
| 5-177036008-A-C | c.821A>C | p.Q274P | Missense | 5/6 | - | 1 |
| 5-177036009-A-AT | c.822_823insT | p.K275* | Nonsense | 5/6 | - | 1 |
| 5-177036035-T-C | c.828+20T>C | - | IntronicSNV | - | 5/5 | 1 |
| 5-177036043-A-G | c.828+28A>G | - | IntronicSNV | - | 5/5 | 6 |
| 5-177036043-A-T | c.828+28A>T | - | IntronicSNV | - | 5/5 | 4 |
| 5-177036214-C-T | c.828+199C>T | - | IntronicSNV | - | 5/5 | 1 |
| 5-177036225-G-A | c.828+210G>A | - | IntronicSNV | - | 5/5 | 1 |
| 5-177036231-T-C | c.828+216T>C | - | IntronicSNV | - | 5/5 | 2 |
| 5-177036256-G-A | c.828+241G>A | - | IntronicSNV | - | 5/5 | 1 |
| 5-177036538-CAGG-C | c.829_831del | p.E277del | InFrameDeletion | 6/6 | - | 1 |
| 5-177036541-G-A | c.829G>A | p.E277K | Missense | 6/6 | - | 1 |
| 5-177036541-G-T | c.829G>T | p.E277* | Nonsense | 6/6 | - | 3 |
| 5-177036543-G-A | c.831G>A | p.E277= | Synonymous | 6/6 | - | 1 |
| 5-177036554-T-A | c.842T>A | p.V281E | Missense | 6/6 | - | 1 |
| 5-177036562-G-A | c.850G>A | p.E284K | Missense | 6/6 | - | 1 |
| 5-177036571-C-T | c.859C>T | p.L287= | Synonymous | 6/6 | - | 1 |
| 5-177036573-G-A | c.861G>A | p.L287= | Synonymous | 6/6 | - | 1 |
| 5-177036573-G-C | c.861G>C | p.L287= | Synonymous | 6/6 | - | 1 |
| 5-177036573-G-T | c.861G>T | p.L287= | Synonymous | 6/6 | - | 1 |
| 5-177036577-A-G | c.865A>G | p.T289A | Missense | 6/6 | - | 1 |
| 5-177036579-T-A | c.867T>A | p.T289= | Synonymous | 6/6 | - | 1 |
| 5-177036579-T-C | c.867T>C | p.T289= | Synonymous | 6/6 | - | 1 |
| 5-177036579-T-G | c.867T>G | p.T289= | Synonymous | 6/6 | - | 1 |
| 5-177036584-A-G | c.872A>G | p.K291R | Missense | 6/6 | - | 1 |
| 5-177036589-C-G | c.877C>G | p.H293D | Missense | 6/6 | - | 1 |
| 5-177036591-T-C | c.879T>C | p.H293= | Synonymous | 6/6 | - | 1 |
| 5-177036602-G-A | c.890G>A | p.R297H | Missense | 6/6 | - | 1 |
| 5-177036602-G-C | c.890G>C | p.R297P | Missense | 6/6 | - | 1 |
| 5-177036602-G-T | c.890G>T | p.R297L | Missense | 6/6 | - | 1 |
| 5-177036604-A-C | c.892A>C | p.T298P | Missense | 6/6 | - | 1 |
| 5-177036605-C-T | c.893C>T | p.T298I | Missense | 6/6 | - | 1 |
| 5-177036609-C-A | c.897C>A | p.A299= | Synonymous | 6/6 | - | 1 |
| 5-177036609-C-G | c.897C>G | p.A299= | Synonymous | 6/6 | - | 1 |
| 5-177036609-C-T | c.897C>T | p.A299= | Synonymous | 6/6 | - | 1 |
| 5-177036613-T-G | c.901T>G | p.S301A | Missense | 6/6 | - | 1 |
| 5-177036618-G-T | c.906G>T | p.V302= | Synonymous | 6/6 | - | 1 |
| 5-177036620-G-A | c.908G>A | p.G303D | Missense | 6/6 | - | 1 |
| 5-177036622-G-A | c.910G>A | p.G304R | Missense | 6/6 | - | 1 |
| 5-177036632-G-A | c.920G>A | p.C307Y | Missense | 6/6 | - | 1 |
| 5-177036639-C-A | c.927C>A | p.V309= | Synonymous | 6/6 | - | 1 |
| 5-177036639-C-G | c.927C>G | p.V309= | Synonymous | 6/6 | - | 1 |
| 5-177036639-C-T | c.927C>T | p.V309= | Synonymous | 6/6 | - | 1 |
| 5-177036642-C-A | c.930C>A | p.L310= | Synonymous | 6/6 | - | 1 |
| 5-177036646-A-C | c.934A>C | p.I312L | Missense | 6/6 | - | 1 |
| 5-177036651-G-C | c.939G>C | p.M313I | Missense | 6/6 | - | 1 |
| 5-177036682-T-A | c.970T>A | p.C324S | Missense | 6/6 | - | 4 |
| 5-177036683-G-C | c.971G>C | p.C324S | Missense | 6/6 | - | 2 |
| 5-177036688-T-G | c.976T>G | p.F326V | Missense | 6/6 | - | 1 |