| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 8-59466106-T-C | c.-16+244T>C | - | intron_variant | - | 1/8 | 2 |
| 8-59466392-C-G | c.-16+530C>G | - | intron_variant | - | 1/8 | 2 |
| 8-59473630-T-C | c.-15-3948T>C | - | IntronicSNV | - | 1/8 | 1 |
| 8-59473938-A-G | c.-15-3640A>G | - | IntronicSNV | - | 1/8 | 3 |
| 8-59474090-C-A | c.-15-3488C>A | - | IntronicSNV | - | 1/8 | 2 |
| 8-59475078-G-T | c.-15-2500G>T | - | IntronicSNV | - | 1/8 | 1 |
| 8-59477527-T-A | c.-15-51T>A | - | IntronicSNV | - | 1/8 | 2 |
| 8-59477590-A-C | c.-3A>C | - | 5-UTRSNV | 2/9 | - | 1 |
| 8-59477593-A-T | c.1A>T | p.M1? | Missense | 2/9 | - | 1 |
| 8-59477609-C-G | c.17C>G | p.S6C | Missense | 2/9 | - | 1 |
| 8-59477610-T-A | c.18T>A | p.S6= | Synonymous | 2/9 | - | 2 |
| 8-59477610-T-C | c.18T>C | p.S6= | Synonymous | 2/9 | - | 2 |
| 8-59477610-T-G | c.18T>G | p.S6= | Synonymous | 2/9 | - | 2 |
| 8-59477613-C-T | c.21C>T | p.L7= | Synonymous | 2/9 | - | 1 |
| 8-59477625-G-A | c.33G>A | p.K11= | Synonymous | 2/9 | - | 1 |
| 8-59477632-AA-GC | c.40_41delinsGC | p.K14A | Missense | 2/9 | - | 1 |
| 8-59477632-AA-GT | c.40_41delinsGT | p.K14V | Missense | 2/9 | - | 1 |
| 8-59477632-A-G | c.40A>G | p.K14E | Missense | 2/9 | - | 1 |
| 8-59477633-AA-TG | c.41_42delinsTG | p.K14M | Missense | 2/9 | - | 1 |
| 8-59477633-A-C | c.41A>C | p.K14T | Missense | 2/9 | - | 1 |
| 8-59477633-A-T | c.41A>T | p.K14I | Missense | 2/9 | - | 2 |
| 8-59477634-A-C | c.42A>C | p.K14N | Missense | 2/9 | - | 1 |
| 8-59477634-A-G | c.42A>G | p.K14= | Synonymous | 2/9 | - | 1 |
| 8-59477634-A-T | c.42A>T | p.K14N | Missense | 2/9 | - | 1 |
| 8-59477661-C-T | c.51+18C>T | - | IntronicSNV | - | 2/8 | 4 |
| 8-59478948-A-G | c.51+1305A>G | - | IntronicSNV | - | 2/8 | 1 |
| 8-59479310-C-T | c.51+1667C>T | - | IntronicSNV | - | 2/8 | 1 |
| 8-59479607-G-A | c.51+1964G>A | - | IntronicSNV | - | 2/8 | 1 |
| 8-59482873-T-C | c.52-573T>C | - | IntronicSNV | - | 2/8 | 1 |
| 8-59483306-T-C | c.52-140T>C | - | IntronicSNV | - | 2/8 | 1 |
| 8-59483446-G-A | c.52G>A | p.A18T | Missense | 3/9 | - | 2 |
| 8-59483446-GC-TT | c.52_53delinsTT | p.A18F | Missense | 3/9 | - | 2 |
| 8-59483450-A-G | c.56A>G | p.Q19R | Missense | 3/9 | - | 1 |
| 8-59483455-GCT-CAA | c.61_63delinsCAA | p.A21Q | Missense | 3/9 | - | 2 |
| 8-59483457-T-A | c.63T>A | p.A21= | Synonymous | 3/9 | - | 1 |
| 8-59483457-T-C | c.63T>C | p.A21= | Synonymous | 3/9 | - | 1 |
| 8-59483457-T-G | c.63T>G | p.A21= | Synonymous | 3/9 | - | 1 |
| 8-59483464-G-A | c.70G>A | p.A24T | Missense | 3/9 | - | 1 |
| 8-59483467-A-G | c.73A>G | p.N25D | Missense | 3/9 | - | 1 |
| 8-59483470-C-A | c.76C>A | p.P26T | Missense | 3/9 | - | 1 |
| 8-59483483-C-A | c.89C>A | p.A30E | Missense | 3/9 | - | 1 |
| 8-59483484-A-C | c.90A>C | p.A30= | Synonymous | 3/9 | - | 2 |
| 8-59483484-A-G | c.90A>G | p.A30= | Synonymous | 3/9 | - | 2 |
| 8-59483484-A-T | c.90A>T | p.A30= | Synonymous | 3/9 | - | 2 |
| 8-59483485-A-G | c.91A>G | p.I31V | Missense | 3/9 | - | 1 |
| 8-59483500-TC-AA | c.106_107delinsAA | p.S36N | Missense | 3/9 | - | 1 |
| 8-59483501-C-G | c.107C>G | p.S36C | Missense | 3/9 | - | 1 |
| 8-59483506-C-T | c.112C>T | p.P38S | Missense | 3/9 | - | 3 |
| 8-59483507-C-T | c.113C>T | p.P38L | Missense | 3/9 | - | 1 |
| 8-59483509-A-C | c.115A>C | p.I39L | Missense | 3/9 | - | 2 |
| 8-59483511-C-T | c.117C>T | p.I39= | Synonymous | 3/9 | - | 1 |
| 8-59483517-C-A | c.123C>A | p.H41Q | Missense | 3/9 | - | 2 |
| 8-59483517-C-G | c.123C>G | p.H41Q | Missense | 3/9 | - | 1 |
| 8-59484764-A-G | c.131A>G | p.N44S | Missense | 4/9 | - | 1 |
| 8-59484765-T-C | c.132T>C | p.N44= | Synonymous | 4/9 | - | 2 |
| 8-59484769-TA-GC | c.136_137delinsGC | p.Y46A | Missense | 4/9 | - | 1 |
| 8-59484772-C-G | c.139C>G | p.P47A | Missense | 4/9 | - | 2 |
| 8-59484781-TA-GC | c.148_149delinsGC | p.Y50A | Missense | 4/9 | - | 1 |
| 8-59484789-G-A | c.156G>A | p.E52= | Synonymous | 4/9 | - | 1 |
| 8-59484806-G-T | c.173G>T | p.G58V | Missense | 4/9 | - | 1 |
| 8-59484817-A-C | c.184A>C | p.N62H | Missense | 4/9 | - | 1 |
| 8-59484819-T-G | c.186T>G | p.N62K | Missense | 4/9 | - | 1 |
| 8-59484821-A-G | c.188A>G | p.E63G | Missense | 4/9 | - | 1 |
| 8-59484832-C-A | c.199C>A | p.R67S | Missense | 4/9 | - | 1 |
| 8-59484832-C-T | c.199C>T | p.R67C | Missense | 4/9 | - | 1 |
| 8-59484833-G-A | c.200G>A | p.R67H | Missense | 4/9 | - | 1 |
| 8-59484836-C-T | c.203C>T | p.A68V | Missense | 4/9 | - | 2 |
| 8-59484839-A-G | c.206A>G | p.N69S | Missense | 4/9 | - | 2 |
| 8-59484844-GCC-TGG | c.211_213delinsTGG | p.A71W | Missense | 4/9 | - | 1 |
| 8-59484844-G-T | c.211G>T | p.A71S | Missense | 4/9 | - | 1 |
| 8-59484847-G-A | c.214G>A | p.V72M | Missense | 4/9 | - | 2 |
| 8-59484848-T-C | c.215T>C | p.V72A | Missense | 4/9 | - | 1 |
| 8-59484850-G-A | c.217G>A | p.V73I | Missense | 4/9 | - | 1 |
| 8-59484860-C-T | c.227C>T | p.A76V | Missense | 4/9 | - | 2 |
| 8-59484862-C-T | c.229C>T | p.P77S | Missense | 4/9 | - | 2 |
| 8-59484869-A-G | c.236A>G | p.Q79R | Missense | 4/9 | - | 1 |
| 8-59484869-A-T | c.236A>T | p.Q79L | Missense | 4/9 | - | 1 |
| 8-59484872-G-T | c.239G>T | p.G80V | Missense | 4/9 | - | 1 |
| 8-59484899-T-A | c.240+26T>A | - | IntronicSNV | - | 4/8 | 5 |
| 8-59485087-C-T | c.240+214C>T | - | IntronicSNV | - | 4/8 | 1 |
| 8-59488289-A-G | c.241-170A>G | - | IntronicSNV | - | 4/8 | 2 |
| 8-59488460-A-G | c.242A>G | p.Q81R | Missense | 5/9 | - | 1 |
| 8-59488466-T-C | c.248T>C | p.V83A | Missense | 5/9 | - | 1 |
| 8-59488472-G-T | c.254G>T | p.R85I | Missense | 5/9 | - | 1 |
| 8-59488489-TA-GC | c.271_272delinsGC | p.Y91A | Missense | 5/9 | - | 1 |
| 8-59488493-T-C | c.275T>C | p.M92T | Missense | 5/9 | - | 1 |
| 8-59488495-G-A | c.277G>A | p.V93M | Missense | 5/9 | - | 2 |
| 8-59488498-G-A | c.280G>A | p.A94T | Missense | 5/9 | - | 1 |
| 8-59488499-C-T | c.281C>T | p.A94V | Missense | 5/9 | - | 1 |
| 8-59488520-T-G | c.302T>G | p.V101G | Missense | 5/9 | - | 1 |
| 8-59488523-G-A | c.305G>A | p.G102E | Missense | 5/9 | - | 1 |
| 8-59488528-C-T | c.310C>T | p.R104C | Missense | 5/9 | - | 1 |
| 8-59488529-G-A | c.311G>A | p.R104H | Missense | 5/9 | - | 1 |
| 8-59488529-G-T | c.311G>T | p.R104L | Missense | 5/9 | - | 1 |
| 8-59488534-G-T | c.316G>T | p.A106S | Missense | 5/9 | - | 1 |
| 8-59488542-T-G | c.324T>G | p.I108M | Missense | 5/9 | - | 1 |
| 8-59488548-A-G | c.330A>G | p.Q110= | Synonymous | 5/9 | - | 2 |
| 8-59488550-G-A | c.332G>A | p.G111E | Missense | 5/9 | - | 1 |
| 8-59488550-GG-AC | c.332_333delinsAC | p.G111D | Missense | 5/9 | - | 1 |
| 8-59488556-G-A | c.338G>A | p.R113H | Missense | 5/9 | - | 1 |
| 8-59488558-G-A | c.340G>A | p.E114K | Missense | 5/9 | - | 1 |
| 8-59488558-G-C | c.340G>C | p.E114Q | Missense | 5/9 | - | 1 |
| 8-59488559-A-G | c.341A>G | p.E114G | Missense | 5/9 | - | 1 |
| 8-59488572-TA-T | c.356del | p.K119Rfs*14 | Frameshift | 5/9 | - | 1 |
| 8-59488576-G-T | c.358G>T | p.D120Y | Missense | 5/9 | - | 1 |
| 8-59488589-A-G | c.371A>G | p.K124R | Missense | 5/9 | - | 1 |
| 8-59488586-GA-G | c.373del | p.I125Lfs*8 | Frameshift | 5/9 | - | 1 |
| 8-59488596-A-C | c.378A>C | p.G126= | Synonymous | 5/9 | - | 2 |
| 8-59488596-A-G | c.378A>G | p.G126= | Synonymous | 5/9 | - | 2 |
| 8-59488596-A-T | c.378A>T | p.G126= | Synonymous | 5/9 | - | 3 |
| 8-59488597-C-T | c.379C>T | p.L127F | Missense | 5/9 | - | 1 |
| 8-59488599-C-G | c.381C>G | p.L127= | Synonymous | 5/9 | - | 1 |
| 8-59488600-A-G | c.382A>G | p.R128G | Missense | 5/9 | - | 1 |
| 8-59488604-T-G | c.386T>G | p.L129R | Missense | 5/9 | - | 1 |
| 8-59488608-A-C | c.390A>C | p.K130N | Missense | 5/9 | - | 1 |
| 8-59488608-A-T | c.390A>T | p.K130N | Missense | 5/9 | - | 1 |
| 8-59488750-TACTA-T | c.402+134_402+137del | - | IntronicDeletion | - | 5/8 | 1 |
| 8-59489549-A-G | c.402+929A>G | - | IntronicSNV | - | 5/8 | 1 |
| 8-59490592-G-A | c.403G>A | p.G135S | Missense | 6/9 | - | 1 |
| 8-59490597-A-G | c.408A>G | p.I136M | Missense | 6/9 | - | 1 |
| 8-59490605-A-C | c.416A>C | p.Q139P | Missense | 6/9 | - | 1 |
| 8-59490606-G-A | c.417G>A | p.Q139= | Synonymous | 6/9 | - | 1 |
| 8-59490615-G-A | c.426G>A | p.Q142= | Synonymous | 6/9 | - | 1 |
| 8-59490620-AT-A | c.433del | p.S145Lfs*8 | Frameshift | 6/9 | - | 1 |
| 8-59490628-G-T | c.439G>T | p.A147S | Missense | 6/9 | - | 1 |
| 8-59490631-TC-GG | c.442_443delinsGG | p.S148G | Missense | 6/9 | - | 1 |
| 8-59490637-G-A | c.448G>A | p.V150I | Missense | 6/9 | - | 1 |
| 8-59490640-G-A | c.451G>A | p.G151S | Missense | 6/9 | - | 1 |
| 8-59490641-G-A | c.452G>A | p.G151D | Missense | 6/9 | - | 1 |
| 8-59490644-T-G | c.455T>G | p.L152R | Missense | 6/9 | - | 1 |
| 8-59490643-C-T | c.454C>T | p.L152= | Synonymous | 6/9 | - | 1 |
| 8-59490645-G-A | c.456G>A | p.L152= | Synonymous | 6/9 | - | 1 |
| 8-59490645-G-C | c.456G>C | p.L152= | Synonymous | 6/9 | - | 1 |
| 8-59490645-G-T | c.456G>T | p.L152= | Synonymous | 6/9 | - | 1 |
| 8-59490647-G-A | c.458G>A | p.R153K | Missense | 6/9 | - | 1 |
| 8-59490649-T-C | c.460T>C | p.F154L | Missense | 6/9 | - | 1 |
| 8-59490652-G-A | c.463G>A | p.G155R | Missense | 6/9 | - | 1 |
| 8-59490662-T-C | c.473T>C | p.V158A | Missense | 6/9 | - | 1 |
| 8-59490679-G-A | c.490G>A | p.E164K | Missense | 6/9 | - | 1 |
| 8-59490682-AA-GC | c.493_494delinsGC | p.N165A | Missense | 6/9 | - | 1 |
| 8-59490685-T-A | c.496T>A | p.C166S | Missense | 6/9 | - | 1 |
| 8-59490686-G-C | c.497G>C | p.C166S | Missense | 6/9 | - | 1 |
| 8-59490686-G-A | c.497G>A | p.C166Y | Missense | 6/9 | - | 1 |
| 8-59490689-C-T | c.500C>T | p.A167V | Missense | 6/9 | - | 1 |
| 8-59490698-G-A | c.509G>A | p.S170N | Missense | 6/9 | - | 1 |
| 8-59490703-G-C | c.514G>C | p.D172H | Missense | 6/9 | - | 2 |
| 8-59490710-C-T | c.521C>T | p.A174V | Missense | 6/9 | - | 1 |
| 8-59490716-A-C | c.527A>C | p.K176T | Missense | 6/9 | - | 1 |
| 8-59490716-A-T | c.527A>T | p.K176M | Missense | 6/9 | - | 1 |
| 8-59490720-G-T | c.531G>T | p.V177= | Synonymous | 6/9 | - | 2 |
| 8-59490723-C-G | c.534C>G | p.L178= | Synonymous | 6/9 | - | 1 |
| 8-59490726-A-G | c.537A>G | p.K179= | Synonymous | 6/9 | - | 1 |
| 8-59490730-G-A | c.541G>A | p.A181T | Missense | 6/9 | - | 2 |
| 8-59490739-G-A | c.550G>A | p.E184K | Missense | 6/9 | - | 1 |
| 8-59490744-G-A | c.555G>A | p.K185= | Synonymous | 6/9 | - | 1 |
| 8-59490746-T-G | c.557T>G | p.I186S | Missense | 6/9 | - | 1 |
| 8-59490749-C-T | c.560C>T | p.T187I | Missense | 6/9 | - | 2 |
| 8-59490751-A-G | c.562A>G | p.M188V | Missense | 6/9 | - | 1 |
| 8-59490752-T-A | c.563T>A | p.M188K | Missense | 6/9 | - | 1 |
| 8-59490753-G-A | c.564G>A | p.M188I | Missense | 6/9 | - | 1 |
| 8-59490753-G-C | c.564G>C | p.M188I | Missense | 6/9 | - | 1 |
| 8-59490753-G-T | c.564G>T | p.M188I | Missense | 6/9 | - | 1 |
| 8-59490760-C-T | c.571C>T | p.R191C | Missense | 6/9 | - | 2 |
| 8-59490761-G-A | c.572G>A | p.R191H | Missense | 6/9 | - | 3 |
| 8-59490761-G-T | c.572G>T | p.R191L | Missense | 6/9 | - | 1 |
| 8-59490761-GT-AA | c.572_573delinsAA | p.R191Q | Missense | 6/9 | - | 2 |
| 8-59490768-G-A | c.578+1G>A | - | IntronicSNV | - | 6/8 | 1 |
| 8-59490881-TGA-T | c.578+114_578+115del | - | IntronicDeletion | - | 6/8 | 1 |
| 8-59490886-G-T | c.578+119G>T | - | IntronicSNV | - | 6/8 | 1 |
| 8-59491001-C-T | c.578+234C>T | - | IntronicSNV | - | 6/8 | 1 |
| 8-59492031-G-A | c.579-151G>A | - | IntronicSNV | - | 6/8 | 1 |
| 8-59492184-C-T | c.581C>T | p.P194L | Missense | 7/9 | - | 3 |
| 8-59492185-C-CT | c.585dup | p.E196* | Nonsense | 7/9 | - | 1 |
| 8-59492192-CGG-TGT | c.589_591delinsTGT | p.R197C | Missense | 7/9 | - | 1 |
| 8-59492193-G-A | c.590G>A | p.R197Q | Missense | 7/9 | - | 1 |
| 8-59492206-G-A | c.603G>A | p.M201I | Missense | 7/9 | - | 1 |
| 8-59492207-C-T | c.604C>T | p.H202Y | Missense | 7/9 | - | 2 |
| 8-59492212-G-A | c.609G>A | p.K203= | Synonymous | 7/9 | - | 4 |
| 8-59492224-A-C | c.621A>C | p.G207= | Synonymous | 7/9 | - | 1 |
| 8-59492224-A-G | c.621A>G | p.G207= | Synonymous | 7/9 | - | 1 |
| 8-59492224-A-T | c.621A>T | p.G207= | Synonymous | 7/9 | - | 1 |
| 8-59492225-CA-GC | c.622_623delinsGC | p.H208A | Missense | 7/9 | - | 1 |
| 8-59492228-G-A | c.625G>A | p.V209I | Missense | 7/9 | - | 5 |
| 8-59492228-G-C | c.625G>C | p.V209L | Missense | 7/9 | - | 1 |
| 8-59492228-GTT-ATG | c.625_627delinsATG | p.V209M | Missense | 7/9 | - | 1 |
| 8-59492229-T-C | c.626T>C | p.V209A | Missense | 7/9 | - | 1 |
| 8-59492232-G-C | c.629G>C | p.G210A | Missense | 7/9 | - | 1 |
| 8-59492239-C-G | c.636C>G | p.I212M | Missense | 7/9 | - | 2 |
| 8-59492249-G-A | c.646G>A | p.G216R | Missense | 7/9 | - | 1 |
| 8-59492257-A-G | c.654A>G | p.I218M | Missense | 7/9 | - | 4 |
| 8-59492258-A-G | c.655A>G | p.T219A | Missense | 7/9 | - | 1 |
| 8-59492272-A-C | c.669A>C | p.K223N | Missense | 7/9 | - | 1 |
| 8-59492273-G-A | c.670G>A | p.D224N | Missense | 7/9 | - | 1 |
| 8-59492275-T-C | c.672T>C | p.D224= | Synonymous | 7/9 | - | 2 |
| 8-59492280-C-A | c.677C>A | p.S226Y | Missense | 7/9 | - | 1 |
| 8-59492285-G-T | c.682G>T | p.A228S | Missense | 7/9 | - | 2 |
| 8-59492289-G-A | c.686G>A | p.R229K | Missense | 7/9 | - | 1 |
| 8-59492292-A-G | c.689A>G | p.N230S | Missense | 7/9 | - | 1 |
| 8-59492295-G-A | c.692G>A | p.G231D | Missense | 7/9 | - | 1 |
| 8-59492295-G-C | c.692G>C | p.G231A | Missense | 7/9 | - | 1 |
| 8-59492297-C-G | c.694C>G | p.L232V | Missense | 7/9 | - | 1 |
| 8-59492300-C-T | c.697C>T | p.L233F | Missense | 7/9 | - | 1 |
| 8-59492304-C-T | c.701C>T | p.T234M | Missense | 7/9 | - | 1 |
| 8-59492317-C-G | c.714C>G | p.I238M | Missense | 7/9 | - | 1 |
| 8-59492318-T-A | c.715T>A | p.C239S | Missense | 7/9 | - | 1 |
| 8-59492319-G-C | c.716G>C | p.C239S | Missense | 7/9 | - | 1 |
| 8-59492324-A-G | c.721A>G | p.I241V | Missense | 7/9 | - | 1 |
| 8-59492328-A-G | c.725A>G | p.N242S | Missense | 7/9 | - | 1 |
| 8-59492335-G-A | c.732G>A | p.Q244= | Synonymous | 7/9 | - | 1 |
| 8-59492340-T-C | c.737T>C | p.V246A | Missense | 7/9 | - | 1 |
| 8-59492342-A-T | c.739A>T | p.I247F | Missense | 7/9 | - | 1 |
| 8-59492352-AG-GC | c.749_750delinsGC | p.K250S | Missense | 7/9 | - | 1 |
| 8-59492353-G-A | c.750G>A | p.K250= | Synonymous | 7/9 | - | 6 |
| 8-59492906-A-G | c.751-170A>G | - | IntronicSNV | - | 7/8 | 1 |
| 8-59493082-C-A | c.757C>A | p.Q253K | Missense | 8/9 | - | 1 |
| 8-59493088-G-A | c.763G>A | p.A255T | Missense | 8/9 | - | 1 |
| 8-59493089-C-T | c.764C>T | p.A255V | Missense | 8/9 | - | 2 |
| 8-59493101-C-A | c.776C>A | p.S259* | Nonsense | 8/9 | - | 3 |
| 8-59493101-CA-TT | c.776_777delinsTT | p.S259F | Missense | 8/9 | - | 2 |
| 8-59493101-C-G | c.776C>G | p.S259* | Nonsense | 8/9 | - | 3 |
| 8-59493108-T-A | c.783T>A | p.S261= | Synonymous | 8/9 | - | 1 |
| 8-59493112-A-G | c.787A>G | p.T263A | Missense | 8/9 | - | 3 |
| 8-59493118-G-C | c.793G>C | p.V265L | Missense | 8/9 | - | 1 |
| 8-59493118-G-T | c.793G>T | p.V265F | Missense | 8/9 | - | 1 |
| 8-59493127-A-G | c.802A>G | p.T268A | Missense | 8/9 | - | 4 |
| 8-59493130-A-G | c.805A>G | p.I269V | Missense | 8/9 | - | 1 |
| 8-59493132-C-A | c.807C>A | p.I269= | Synonymous | 8/9 | - | 1 |
| 8-59493146-T-C | c.821T>C | p.I274T | Missense | 8/9 | - | 1 |
| 8-59493158-T-C | c.833T>C | p.I278T | Missense | 8/9 | - | 1 |
| 8-59493162-T-G | c.837T>G | p.I279M | Missense | 8/9 | - | 1 |
| 8-59493164-A-C | c.839A>C | p.K280T | Missense | 8/9 | - | 1 |
| 8-59493166-C-T | c.841C>T | p.R281W | Missense | 8/9 | - | 1 |
| 8-59493177-C-A | c.842+10C>A | - | IntronicSNV | - | 8/8 | 1 |
| 8-59493398-G-A | c.842+231G>A | - | IntronicSNV | - | 8/8 | 1 |
| 8-59494089-G-T | c.843-156G>T | - | IntronicSNV | - | 8/8 | 1 |
| 8-59494245-G-C | c.843G>C | p.R281= | Synonymous | 9/9 | - | 1 |
| 8-59494247-T-C | c.845T>C | p.M282T | Missense | 9/9 | - | 1 |
| 8-59494249-G-A | c.847G>A | p.A283T | Missense | 9/9 | - | 1 |
| 8-59494267-AG-CT | c.865_866inv | p.S289L | Missense | 9/9 | - | 1 |
| 8-59494270-C-T | c.868C>T | p.L290= | Synonymous | 9/9 | - | 1 |
| 8-59494271-T-C | c.869T>C | p.L290P | Missense | 9/9 | - | 3 |
| 8-59494291-G-A | c.889G>A | p.E297K | Missense | 9/9 | - | 1 |
| 8-59494476-A-C | c.*177A>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 8-59494605-C-T | c.*306C>T | - | 3-UTRSNV | 9/9 | - | 1 |
| 8-59494712-T-A | c.*413T>A | - | 3-UTRSNV | 9/9 | - | 2 |
| 8-59494712-T-C | c.*413T>C | - | 3-UTRSNV | 9/9 | - | 2 |
| 8-59495357-C-T | c.*1058C>T | - | 3-UTRSNV | 9/9 | - | 1 |