| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-139054227-A-C | c.-160-5722A>C | - | IntronicSNV | - | 1/2 | 1 |
| 5-139054227-A-T | c.-160-5722A>T | - | IntronicSNV | - | 1/2 | 1 |
| 5-139057496-C-T | c.-160-2453C>T | - | IntronicSNV | - | 1/2 | 1 |
| 5-139059017-C-A | c.-160-932C>A | - | IntronicSNV | - | 1/2 | 2 |
| 5-139059017-C-T | c.-160-932C>T | - | IntronicSNV | - | 1/2 | 2 |
| 5-139059562-A-C | c.-160-387A>C | - | IntronicSNV | - | 1/2 | 1 |
| 5-139059562-A-G | c.-160-387A>G | - | IntronicSNV | - | 1/2 | 1 |
| 5-139060059-C-G | c.-50C>G | - | 5-UTRSNV | 2/3 | - | 1 |
| 5-139060059-C-T | c.-50C>T | - | 5-UTRSNV | 2/3 | - | 1 |
| 5-139060077-C-T | c.-32C>T | - | 5-UTRSNV | 2/3 | - | 1 |
| 5-139060124-G-A | c.16G>A | p.G6S | Missense | 2/3 | - | 1 |
| 5-139060131-C-T | c.23C>T | p.S8F | Missense | 2/3 | - | 1 |
| 5-139060137-A-C | c.29A>C | p.D10A | Missense | 2/3 | - | 1 |
| 5-139060139-G-A | c.31G>A | p.A11T | Missense | 2/3 | - | 1 |
| 5-139060139-GC-CA | c.31_32delinsCA | p.A11H | Missense | 2/3 | - | 1 |
| 5-139060139-GCC-AAG | c.31_33delinsAAG | p.A11K | Missense | 2/3 | - | 1 |
| 5-139060139-GC-TA | c.31_32delinsTA | p.A11Y | Missense | 2/3 | - | 1 |
| 5-139060139-G-T | c.31G>T | p.A11S | Missense | 2/3 | - | 2 |
| 5-139060140-CC-AG | c.32_33delinsAG | p.A11E | Missense | 2/3 | - | 1 |
| 5-139060140-C-G | c.32C>G | p.A11G | Missense | 2/3 | - | 2 |
| 5-139060142-G-A | c.34G>A | p.G12S | Missense | 2/3 | - | 3 |
| 5-139060142-G-C | c.34G>C | p.G12R | Missense | 2/3 | - | 1 |
| 5-139060143-G-A | c.35G>A | p.G12D | Missense | 2/3 | - | 2 |
| 5-139060144-C-A | c.36C>A | p.G12= | Synonymous | 2/3 | - | 2 |
| 5-139060144-C-G | c.36C>G | p.G12= | Synonymous | 2/3 | - | 2 |
| 5-139060144-C-T | c.36C>T | p.G12= | Synonymous | 2/3 | - | 2 |
| 5-139060145-GG-TT | c.37_38delinsTT | p.G13F | Missense | 2/3 | - | 2 |
| 5-139060148-AG-GC | c.40_41delinsGC | p.S14A | Missense | 2/3 | - | 1 |
| 5-139060148-A-T | c.40A>T | p.S14C | Missense | 2/3 | - | 1 |
| 5-139060152-G-A | c.44G>A | p.S15N | Missense | 2/3 | - | 2 |
| 5-139060153-C-T | c.45C>T | p.S15= | Synonymous | 2/3 | - | 1 |
| 5-139060154-AG-GC | c.46_47delinsGC | p.S16A | Missense | 2/3 | - | 1 |
| 5-139060161-G-C | c.53G>C | p.S18T | Missense | 2/3 | - | 1 |
| 5-139060161-G-T | c.53G>T | p.S18I | Missense | 2/3 | - | 3 |
| 5-139060161-G-GCAA | c.55_56insACA | p.S18_T19insN | InFrameInsertion | 2/3 | - | 1 |
| 5-139060164-C-A | c.56C>A | p.T19N | Missense | 2/3 | - | 1 |
| 5-139060171-C-T | c.63C>T | p.G21= | Synonymous | 2/3 | - | 1 |
| 5-139060172-AG-GC | c.64_65delinsGC | p.S22A | Missense | 2/3 | - | 2 |
| 5-139060174-C-T | c.66C>T | p.S22= | Synonymous | 2/3 | - | 2 |
| 5-139060184-G-A | c.76G>A | p.G26S | Missense | 2/3 | - | 2 |
| 5-139060186-C-A | c.78C>A | p.G26= | Synonymous | 2/3 | - | 1 |
| 5-139060186-C-G | c.78C>G | p.G26= | Synonymous | 2/3 | - | 1 |
| 5-139060186-C-T | c.78C>T | p.G26= | Synonymous | 2/3 | - | 1 |
| 5-139060187-AG-GC | c.79_80delinsGC | p.S27A | Missense | 2/3 | - | 1 |
| 5-139060187-A-T | c.79A>T | p.S27C | Missense | 2/3 | - | 1 |
| 5-139060190-AG-GC | c.82_83delinsGC | p.S28A | Missense | 2/3 | - | 2 |
| 5-139060194-G-C | c.86G>C | p.G29A | Missense | 2/3 | - | 1 |
| 5-139060202-GC-AT | c.94_95delinsAT | p.A32I | Missense | 2/3 | - | 1 |
| 5-139060203-CA-AC | c.95_96delinsAC | p.A32D | Missense | 2/3 | - | 1 |
| 5-139060206-G-A | c.98G>A | p.G33E | Missense | 2/3 | - | 1 |
| 5-139060232-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 2/3 | - | 1 |
| 5-139060238-G-A | c.130G>A | p.A44T | Missense | 2/3 | - | 1 |
| 5-139060240-C-A | c.132C>A | p.A44= | Synonymous | 2/3 | - | 1 |
| 5-139060240-C-G | c.132C>G | p.A44= | Synonymous | 2/3 | - | 1 |
| 5-139060240-C-T | c.132C>T | p.A44= | Synonymous | 2/3 | - | 3 |
| 5-139060241-G-A | c.133G>A | p.A45T | Missense | 2/3 | - | 1 |
| 5-139060243-A-C | c.135A>C | p.A45= | Synonymous | 2/3 | - | 1 |
| 5-139060243-A-G | c.135A>G | p.A45= | Synonymous | 2/3 | - | 1 |
| 5-139060243-A-T | c.135A>T | p.A45= | Synonymous | 2/3 | - | 1 |
| 5-139060247-G-A | c.139G>A | p.A47T | Missense | 2/3 | - | 1 |
| 5-139060253-G-A | c.145G>A | p.V49M | Missense | 2/3 | - | 2 |
| 5-139060256-G-A | c.148G>A | p.A50T | Missense | 2/3 | - | 2 |
| 5-139060256-GCA-TGT | c.148_150delinsTGT | p.A50C | Missense | 2/3 | - | 1 |
| 5-139060256-G-T | c.148G>T | p.A50S | Missense | 2/3 | - | 1 |
| 5-139060270-CA-C | c.162del | p.E57Sfs*40 | Frameshift | 2/3 | - | 1 |
| 5-139060272-C-T | c.164C>T | p.P55L | Missense | 2/3 | - | 2 |
| 5-139060274-C-T | c.166C>T | p.P56S | Missense | 2/3 | - | 5 |
| 5-139060275-C-A | c.167C>A | p.P56H | Missense | 2/3 | - | 1 |
| 5-139060270-AC-A | c.168del | p.E57Sfs*40 | Frameshift | 2/3 | - | 1 |
| 5-139060276-C-A | c.168C>A | p.P56= | Synonymous | 2/3 | - | 1 |
| 5-139060276-C-G | c.168C>G | p.P56= | Synonymous | 2/3 | - | 1 |
| 5-139060276-C-T | c.168C>T | p.P56= | Synonymous | 2/3 | - | 1 |
| 5-139060277-CG-C | c.169del | p.E57Sfs*40 | Frameshift | 2/3 | - | 2 |
| 5-139060277-G-A | c.169G>A | p.E57K | Missense | 2/3 | - | 2 |
| 5-139060283-C-T | c.175C>T | p.R59W | Missense | 2/3 | - | 5 |
| 5-139060284-G-A | c.176G>A | p.R59Q | Missense | 2/3 | - | 1 |
| 5-139060285-G-A | c.177G>A | p.R59= | Synonymous | 2/3 | - | 2 |
| 5-139060294-C-T | c.186C>T | p.S62= | Synonymous | 2/3 | - | 2 |
| 5-139060305-G-A | c.197G>A | p.S66N | Missense | 2/3 | - | 1 |
| 5-139060312-C-T | c.204C>T | p.P68= | Synonymous | 2/3 | - | 1 |
| 5-139060315-C-A | c.207C>A | p.L69= | Synonymous | 2/3 | - | 1 |
| 5-139060321-G-A | c.213G>A | p.K71= | Synonymous | 2/3 | - | 2 |
| 5-139060323-G-T | c.215G>T | p.S72I | Missense | 2/3 | - | 1 |
| 5-139060325-C-A | c.217C>A | p.L73M | Missense | 2/3 | - | 1 |
| 5-139060327-G-A | c.219G>A | p.L73= | Synonymous | 2/3 | - | 1 |
| 5-139060330-C-T | c.222C>T | p.R74= | Synonymous | 2/3 | - | 3 |
| 5-139060331-C-T | c.223C>T | p.R75C | Missense | 2/3 | - | 7 |
| 5-139060332-G-A | c.224G>A | p.R75H | Missense | 2/3 | - | 3 |
| 5-139060332-G-T | c.224G>T | p.R75L | Missense | 2/3 | - | 1 |
| 5-139060335-C-G | c.227C>G | p.S76C | Missense | 2/3 | - | 2 |
| 5-139060338-G-A | c.230G>A | p.R77H | Missense | 2/3 | - | 1 |
| 5-139060342-G-A | c.234G>A | p.P78= | Synonymous | 2/3 | - | 2 |
| 5-139060342-G-C | c.234G>C | p.P78= | Synonymous | 2/3 | - | 1 |
| 5-139060342-G-T | c.234G>T | p.P78= | Synonymous | 2/3 | - | 1 |
| 5-139060347-C-G | c.239C>G | p.S80C | Missense | 2/3 | - | 1 |
| 5-139060348-C-T | c.240C>T | p.S80= | Synonymous | 2/3 | - | 3 |
| 5-139060349-C-T | c.241C>T | p.H81Y | Missense | 2/3 | - | 1 |
| 5-139060353-A-G | c.245A>G | p.Y82C | Missense | 2/3 | - | 1 |
| 5-139060354-C-G | c.246C>G | p.Y82* | Nonsense | 2/3 | - | 1 |
| 5-139060359-C-T | c.251C>T | p.S84F | Missense | 2/3 | - | 3 |
| 5-139060371-G-C | c.263G>C | p.S88T | Missense | 2/3 | - | 1 |
| 5-139060371-G-T | c.263G>T | p.S88I | Missense | 2/3 | - | 1 |
| 5-139060383-G-A | c.275G>A | p.G92D | Missense | 2/3 | - | 2 |
| 5-139060381-TGGC-T | c.276_278del | p.G94del | InFrameDeletion | 2/3 | - | 1 |
| 5-139060386-G-C | c.278G>C | p.G93A | Missense | 2/3 | - | 2 |
| 5-139060387-GT-G | c.279del | p.G94Afs*3 | Frameshift | 2/3 | - | 1 |
| 5-139060389-G-T | c.281G>T | p.G94V | Missense | 2/3 | - | 1 |
| 5-139060397-A-C | c.289A>C | p.M97L | Missense | 2/3 | - | 1 |
| 5-139060397-A-T | c.289A>T | p.M97L | Missense | 2/3 | - | 1 |
| 5-139060398-T-C | c.290T>C | p.M97T | Missense | 2/3 | - | 2 |
| 5-139060399-G-T | c.291G>T | p.M97I | Missense | 2/3 | - | 2 |
| 5-139060402-C-A | c.294C>A | p.G98= | Synonymous | 2/3 | - | 1 |
| 5-139060402-C-G | c.294C>G | p.G98= | Synonymous | 2/3 | - | 1 |
| 5-139060402-C-T | c.294C>T | p.G98= | Synonymous | 2/3 | - | 1 |
| 5-139060404-G-T | c.296G>T | p.G99V | Missense | 2/3 | - | 1 |
| 5-139060406-G-A | c.298G>A | p.E100K | Missense | 2/3 | - | 1 |
| 5-139060409-T-G | c.301T>G | p.S101A | Missense | 2/3 | - | 3 |
| 5-139060408-GTC-G | c.302_303del | p.S101Cfs*2 | Frameshift | 2/3 | - | 1 |
| 5-139060412-G-A | c.304G>A | p.A102T | Missense | 2/3 | - | 1 |
| 5-139060421-G-A | c.313G>A | p.A105T | Missense | 2/3 | - | 1 |
| 5-139060428-C-T | c.320C>T | p.A107V | Missense | 2/3 | - | 7 |
| 5-139060426-TGCG-T | c.321_323del | p.A112del | InFrameDeletion | 2/3 | - | 1 |
| 5-139060430-G-A | c.322G>A | p.A108T | Missense | 2/3 | - | 1 |
| 5-139060432-T-A | c.324T>A | p.A108= | Synonymous | 2/3 | - | 1 |
| 5-139060432-T-C | c.324T>C | p.A108= | Synonymous | 2/3 | - | 1 |
| 5-139060432-T-G | c.324T>G | p.A108= | Synonymous | 2/3 | - | 1 |
| 5-139060433-G-A | c.325G>A | p.A109T | Missense | 2/3 | - | 1 |
| 5-139060436-G-T | c.328G>T | p.A110S | Missense | 2/3 | - | 1 |
| 5-139060446-C-T | c.338C>T | p.S113F | Missense | 2/3 | - | 6 |
| 5-139060445-TC-T | c.340del | p.L114Cfs*32 | Frameshift | 2/3 | - | 1 |
| 5-139060445-T-TC | c.340dup | p.L114Pfs*7 | Frameshift | 2/3 | - | 1 |
| 5-139060448-C-A | c.340C>A | p.L114M | Missense | 2/3 | - | 1 |
| 5-139060451-TT-CC | c.343_344delinsCC | p.L115P | Missense | 2/3 | - | 1 |
| 5-139060459-T-G | c.351T>G | p.N117K | Missense | 2/3 | - | 1 |
| 5-139060463-C-A | c.355C>A | p.H119N | Missense | 2/3 | - | 1 |
| 5-139060476-C-T | c.368C>T | p.A123V | Missense | 2/3 | - | 1 |
| 5-139060479-C-T | c.371C>T | p.A124V | Missense | 2/3 | - | 1 |
| 5-139060484-G-T | c.376G>T | p.A126S | Missense | 2/3 | - | 1 |
| 5-139060486-G-A | c.378G>A | p.A126= | Synonymous | 2/3 | - | 11 |
| 5-139060486-G-C | c.378G>C | p.A126= | Synonymous | 2/3 | - | 2 |
| 5-139060486-G-T | c.378G>T | p.A126= | Synonymous | 2/3 | - | 9 |
| 5-139060488-T-C | c.380T>C | p.V127A | Missense | 2/3 | - | 1 |
| 5-139060503-CT-AA | c.395_396delinsAA | p.P132Q | Missense | 2/3 | - | 1 |
| 5-139060510-A-C | c.402A>C | p.S134= | Synonymous | 2/3 | - | 1 |
| 5-139060510-A-G | c.402A>G | p.S134= | Synonymous | 2/3 | - | 2 |
| 5-139060510-A-T | c.402A>T | p.S134= | Synonymous | 2/3 | - | 1 |
| 5-139060511-A-C | c.403A>C | p.K135Q | Missense | 2/3 | - | 1 |
| 5-139060532-G-A | c.424G>A | p.A142T | Missense | 2/3 | - | 1 |
| 5-139060532-G-T | c.424G>T | p.A142S | Missense | 2/3 | - | 2 |
| 5-139060538-C-A | c.430C>A | p.L144M | Missense | 2/3 | - | 3 |
| 5-139060540-G-A | c.432G>A | p.L144= | Synonymous | 2/3 | - | 1 |
| 5-139060541-C-A | c.433C>A | p.L145M | Missense | 2/3 | - | 1 |
| 5-139060546-C-T | c.438C>T | p.S146= | Synonymous | 2/3 | - | 2 |
| 5-139060547-AA-GC | c.439_440delinsGC | p.K147A | Missense | 2/3 | - | 1 |
| 5-139060553-G-T | c.445G>T | p.E149* | Nonsense | 2/3 | - | 1 |
| 5-139060556-C-T | c.448C>T | p.R150W | Missense | 2/3 | - | 1 |
| 5-139060558-G-A | c.450G>A | p.R150= | Synonymous | 2/3 | - | 2 |
| 5-139060564-G-A | c.456G>A | p.T152= | Synonymous | 2/3 | - | 2 |
| 5-139060564-G-C | c.456G>C | p.T152= | Synonymous | 2/3 | - | 1 |
| 5-139060564-G-T | c.456G>T | p.T152= | Synonymous | 2/3 | - | 1 |
| 5-139060565-G-C | c.457G>C | p.E153Q | Missense | 2/3 | - | 1 |
| 5-139060572-C-A | c.464C>A | p.A155E | Missense | 2/3 | - | 1 |
| 5-139060574-G-T | c.466G>T | p.A156S | Missense | 2/3 | - | 3 |
| 5-139060575-C-T | c.467C>T | p.A156V | Missense | 2/3 | - | 3 |
| 5-139060577-G-A | c.469G>A | p.E157K | Missense | 2/3 | - | 2 |
| 5-139060581-G-A | c.473G>A | p.G158E | Missense | 2/3 | - | 5 |
| 5-139060590-C-T | c.482C>T | p.T161M | Missense | 2/3 | - | 2 |
| 5-139060591-G-A | c.483G>A | p.T161= | Synonymous | 2/3 | - | 2 |
| 5-139060591-G-C | c.483G>C | p.T161= | Synonymous | 2/3 | - | 1 |
| 5-139060591-G-T | c.483G>T | p.T161= | Synonymous | 2/3 | - | 1 |
| 5-139060592-C-T | c.484C>T | p.L162= | Synonymous | 2/3 | - | 1 |
| 5-139060594-G-A | c.486G>A | p.L162= | Synonymous | 2/3 | - | 1 |
| 5-139060594-G-C | c.486G>C | p.L162= | Synonymous | 2/3 | - | 1 |
| 5-139060594-G-T | c.486G>T | p.L162= | Synonymous | 2/3 | - | 1 |
| 5-139060605-C-T | c.497C>T | p.A166V | Missense | 2/3 | - | 1 |
| 5-139060606-G-A | c.498G>A | p.A166= | Synonymous | 2/3 | - | 2 |
| 5-139060610-TC-CG | c.502_503delinsCG | p.S168R | Missense | 2/3 | - | 1 |
| 5-139060614-C-T | c.506C>T | p.T169I | Missense | 2/3 | - | 1 |
| 5-139060629-G-A | c.521G>A | p.R174H | Missense | 2/3 | - | 3 |
| 5-139060631-G-A | c.523G>A | p.V175M | Missense | 2/3 | - | 2 |
| 5-139060642-G-A | c.534G>A | p.E178= | Synonymous | 2/3 | - | 2 |
| 5-139060644-A-G | c.536A>G | p.H179R | Missense | 2/3 | - | 1 |
| 5-139060648-C-T | c.540C>T | p.L180= | Synonymous | 2/3 | - | 1 |
| 5-139060649-C-T | c.541C>T | p.P181S | Missense | 2/3 | - | 2 |
| 5-139060650-C-A | c.542C>A | p.P181Q | Missense | 2/3 | - | 2 |
| 5-139060658-A-G | c.550A>G | p.S184G | Missense | 2/3 | - | 1 |
| 5-139060660-C-T | c.552C>T | p.S184= | Synonymous | 2/3 | - | 2 |
| 5-139060661-G-A | c.553G>A | p.E185K | Missense | 2/3 | - | 1 |
| 5-139060660-CGAGGCGGGT-C | c.554_562del | p.E185_G187del | InFrameDeletion | 2/3 | - | 1 |
| 5-139060664-G-A | c.556G>A | p.A186T | Missense | 2/3 | - | 1 |
| 5-139060665-C-A | c.557C>A | p.A186E | Missense | 2/3 | - | 2 |
| 5-139060665-C-T | c.557C>T | p.A186V | Missense | 2/3 | - | 5 |
| 5-139060668-G-A | c.560G>A | p.G187D | Missense | 2/3 | - | 2 |
| 5-139060672-T-C | c.564T>C | p.A188= | Synonymous | 2/3 | - | 1 |
| 5-139060675-C-T | c.567C>T | p.G189= | Synonymous | 2/3 | - | 1 |
| 5-139060694-G-A | c.586G>A | p.V196M | Missense | 2/3 | - | 4 |
| 5-139060698-C-T | c.590C>T | p.A197V | Missense | 2/3 | - | 1 |
| 5-139060706-G-A | c.598G>A | p.E200K | Missense | 2/3 | - | 2 |
| 5-139060723-G-A | c.615G>A | p.Q205= | Synonymous | 2/3 | - | 1 |
| 5-139060727-G-A | c.619G>A | p.D207N | Missense | 2/3 | - | 3 |
| 5-139060735-C-A | c.627C>A | p.P209= | Synonymous | 2/3 | - | 1 |
| 5-139060751-C-T | c.643C>T | p.P215S | Missense | 2/3 | - | 3 |
| 5-139060756-C-T | c.648C>T | p.I216= | Synonymous | 2/3 | - | 1 |
| 5-139060759-C-T | c.651C>T | p.N217= | Synonymous | 2/3 | - | 1 |
| 5-139060760-C-T | c.652C>T | p.P218S | Missense | 2/3 | - | 1 |
| 5-139060761-C-T | c.653C>T | p.P218L | Missense | 2/3 | - | 1 |
| 5-139060775-A-G | c.667A>G | p.M223V | Missense | 2/3 | - | 1 |
| 5-139060777-G-T | c.669G>T | p.M223I | Missense | 2/3 | - | 1 |
| 5-139060783-G-A | c.675G>A | p.P225= | Synonymous | 2/3 | - | 2 |
| 5-139060783-G-C | c.675G>C | p.P225= | Synonymous | 2/3 | - | 1 |
| 5-139060783-G-T | c.675G>T | p.P225= | Synonymous | 2/3 | - | 1 |
| 5-139060788-G-A | c.680G>A | p.G227D | Missense | 2/3 | - | 2 |
| 5-139060795-C-A | c.687C>A | p.F229L | Missense | 2/3 | - | 1 |
| 5-139060801-C-A | c.693C>A | p.A231= | Synonymous | 2/3 | - | 1 |
| 5-139060801-C-G | c.693C>G | p.A231= | Synonymous | 2/3 | - | 1 |
| 5-139060801-C-T | c.693C>T | p.A231= | Synonymous | 2/3 | - | 1 |
| 5-139060805-A-C | c.697A>C | p.S233R | Missense | 2/3 | - | 1 |
| 5-139060807-C-A | c.699C>A | p.S233R | Missense | 2/3 | - | 2 |
| 5-139060807-C-G | c.699C>G | p.S233R | Missense | 2/3 | - | 1 |
| 5-139060808-G-A | c.700G>A | p.A234T | Missense | 2/3 | - | 4 |
| 5-139060809-C-T | c.701C>T | p.A234V | Missense | 2/3 | - | 1 |
| 5-139060815-A-G | c.707A>G | p.H236R | Missense | 2/3 | - | 1 |
| 5-139060821-C-T | c.713C>T | p.A238V | Missense | 2/3 | - | 1 |
| 5-139060822-G-A | c.714G>A | p.A238= | Synonymous | 2/3 | - | 2 |
| 5-139060822-G-T | c.714G>T | p.A238= | Synonymous | 2/3 | - | 1 |
| 5-139060829-G-A | c.721G>A | p.A241T | Missense | 2/3 | - | 1 |
| 5-139060831-T-A | c.723T>A | p.A241= | Synonymous | 2/3 | - | 1 |
| 5-139060831-T-C | c.723T>C | p.A241= | Synonymous | 2/3 | - | 2 |
| 5-139060831-T-G | c.723T>G | p.A241= | Synonymous | 2/3 | - | 1 |
| 5-139060835-T-C | c.727T>C | p.Y243H | Missense | 2/3 | - | 1 |
| 5-139060838-C-T | c.730C>T | p.P244S | Missense | 2/3 | - | 1 |
| 5-139060845-A-G | c.737A>G | p.Q246R | Missense | 2/3 | - | 1 |
| 5-139060847-G-A | c.739G>A | p.G247R | Missense | 2/3 | - | 2 |
| 5-139060847-G-C | c.739G>C | p.G247R | Missense | 2/3 | - | 1 |
| 5-139060850-G-C | c.742G>C | p.E248Q | Missense | 2/3 | - | 2 |
| 5-139060852-G-C | c.744G>C | p.E248D | Missense | 2/3 | - | 1 |
| 5-139060852-G-T | c.744G>T | p.E248D | Missense | 2/3 | - | 1 |
| 5-139060853-C-G | c.745C>G | p.L249V | Missense | 2/3 | - | 3 |
| 5-139060857-C-T | c.749C>T | p.A250V | Missense | 2/3 | - | 1 |
| 5-139060858-C-T | c.750C>T | p.A250= | Synonymous | 2/3 | - | 4 |
| 5-139060860-C-T | c.752C>T | p.S251F | Missense | 2/3 | - | 1 |
| 5-139060861-T-C | c.753T>C | p.S251= | Synonymous | 2/3 | - | 1 |
| 5-139060862-G-C | c.754G>C | p.A252P | Missense | 2/3 | - | 1 |
| 5-139060867-C-A | c.759C>A | p.I253= | Synonymous | 2/3 | - | 1 |
| 5-139060867-C-T | c.759C>T | p.I253= | Synonymous | 2/3 | - | 1 |
| 5-139060872-C-T | c.764C>T | p.S255F | Missense | 2/3 | - | 1 |
| 5-139060873-C-A | c.765C>A | p.S255= | Synonymous | 2/3 | - | 1 |
| 5-139060873-C-T | c.765C>T | p.S255= | Synonymous | 2/3 | - | 5 |
| 5-139060874-G-A | c.766G>A | p.G256S | Missense | 2/3 | - | 5 |
| 5-139060876-CAAG-C | c.775_777del | p.K259del | InFrameDeletion | 2/3 | - | 1 |
| 5-139060884-AG-TC | c.776_777delinsTC | p.K259I | Missense | 2/3 | - | 1 |
| 5-139060886-CGG-TGT | c.778_780delinsTGT | p.R260C | Missense | 2/3 | - | 1 |
| 5-139060886-C-T | c.778C>T | p.R260W | Missense | 2/3 | - | 1 |
| 5-139060892-C-T | c.784C>T | p.R262C | Missense | 2/3 | - | 3 |
| 5-139060896-G-A | c.788G>A | p.C263Y | Missense | 2/3 | - | 2 |
| 5-139060898-G-A | c.790G>A | p.G264S | Missense | 2/3 | - | 4 |
| 5-139060906-C-T | c.798C>T | p.C266= | Synonymous | 2/3 | - | 2 |
| 5-139060907-G-A | c.799G>A | p.A267T | Missense | 2/3 | - | 1 |
| 5-139060909-G-A | c.801G>A | p.A267= | Synonymous | 2/3 | - | 1 |
| 5-139060909-G-C | c.801G>C | p.A267= | Synonymous | 2/3 | - | 1 |
| 5-139060909-G-T | c.801G>T | p.A267= | Synonymous | 2/3 | - | 1 |
| 5-139060911-C-A | c.803C>A | p.P268H | Missense | 2/3 | - | 1 |
| 5-139060911-C-T | c.803C>T | p.P268L | Missense | 2/3 | - | 1 |
| 5-139060913-TG-GC | c.805_806delinsGC | p.C269A | Missense | 2/3 | - | 1 |
| 5-139060916-C-T | c.808C>T | p.R270W | Missense | 2/3 | - | 1 |
| 5-139060917-G-A | c.809G>A | p.R270Q | Missense | 2/3 | - | 3 |
| 5-139060917-G-T | c.809G>T | p.R270L | Missense | 2/3 | - | 1 |
| 5-139060919-C-T | c.811C>T | p.R271W | Missense | 2/3 | - | 1 |
| 5-139060920-GG-AT | c.812_813delinsAT | p.R271H | Missense | 2/3 | - | 1 |
| 5-139060923-G-A | c.815G>A | p.R272H | Missense | 2/3 | - | 3 |
| 5-139060929-A-G | c.821A>G | p.N274S | Missense | 2/3 | - | 2 |
| 5-139060932-G-A | c.824G>A | p.C275Y | Missense | 2/3 | - | 1 |
| 5-139060933-C-A | c.825C>A | p.C275* | Nonsense | 2/3 | - | 2 |
| 5-139060933-C-T | c.825C>T | p.C275= | Synonymous | 2/3 | - | 2 |
| 5-139060934-G-A | c.826G>A | p.E276K | Missense | 2/3 | - | 1 |
| 5-139060947-G-A | c.839G>A | p.S280N | Missense | 2/3 | - | 1 |
| 5-139060950-G-T | c.842G>T | p.C281F | Missense | 2/3 | - | 1 |
| 5-139060955-A-C | c.847A>C | p.N283H | Missense | 2/3 | - | 1 |
| 5-139060958-C-T | c.850C>T | p.R284* | Nonsense | 2/3 | - | 3 |
| 5-139060959-G-A | c.851G>A | p.R284Q | Missense | 2/3 | - | 5 |
| 5-139060962-A-G | c.854A>G | p.K285R | Missense | 2/3 | - | 1 |
| 5-139060965-C-A | c.857C>A | p.T286N | Missense | 2/3 | - | 1 |
| 5-139060976-A-G | c.868A>G | p.I290V | Missense | 2/3 | - | 1 |
| 5-139060979-T-C | c.871T>C | p.C291R | Missense | 2/3 | - | 2 |
| 5-139060993-A-C | c.885A>C | p.K295N | Missense | 2/3 | - | 2 |
| 5-139060993-A-T | c.885A>T | p.K295N | Missense | 2/3 | - | 4 |
| 5-139060997-G-A | c.889G>A | p.E297K | Missense | 2/3 | - | 1 |
| 5-139060998-A-G | c.890A>G | p.E297G | Missense | 2/3 | - | 1 |
| 5-139061000-G-A | c.892G>A | p.E298K | Missense | 2/3 | - | 6 |
| 5-139061002-A-C | c.894A>C | p.E298D | Missense | 2/3 | - | 1 |
| 5-139061002-A-T | c.894A>T | p.E298D | Missense | 2/3 | - | 1 |
| 5-139061005-C-A | c.897C>A | p.L299= | Synonymous | 2/3 | - | 1 |
| 5-139061005-C-G | c.897C>G | p.L299= | Synonymous | 2/3 | - | 1 |
| 5-139061005-C-T | c.897C>T | p.L299= | Synonymous | 2/3 | - | 1 |
| 5-139061006-A-G | c.898A>G | p.K300E | Missense | 2/3 | - | 3 |
| 5-139061007-A-T | c.899A>T | p.K300I | Missense | 2/3 | - | 1 |
| 5-139061016-C-T | c.908C>T | p.P303L | Missense | 2/3 | - | 1 |
| 5-139061021-G-A | c.913G>A | p.A305T | Missense | 2/3 | - | 1 |
| 5-139061149-CT-C | c.924+117del | - | IntronicDeletion | - | 2/2 | 2 |
| 5-139062456-G-A | c.933G>A | p.M311I | Missense | 3/3 | - | 1 |
| 5-139062457-C-T | c.934C>T | p.L312F | Missense | 3/3 | - | 1 |
| 5-139062460-C-T | c.937C>T | p.P313S | Missense | 3/3 | - | 1 |
| 5-139062461-C-T | c.938C>T | p.P313L | Missense | 3/3 | - | 1 |
| 5-139062463-A-T | c.940A>T | p.T314S | Missense | 3/3 | - | 1 |
| 5-139062469-G-A | c.946G>A | p.A316T | Missense | 3/3 | - | 1 |
| 5-139062472-G-A | c.949G>A | p.A317T | Missense | 3/3 | - | 1 |
| 5-139062477-C-T | c.954C>T | p.F318= | Synonymous | 3/3 | - | 2 |
| 5-139062478-C-T | c.955C>T | p.R319W | Missense | 3/3 | - | 2 |
| 5-139062479-G-A | c.956G>A | p.R319Q | Missense | 3/3 | - | 2 |
| 5-139062480-G-A | c.957G>A | p.R319= | Synonymous | 3/3 | - | 1 |
| 5-139063328-G-A | c.*836G>A | - | IntergenicSNV | 3/3 | - | 1 |