| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-74842850-G-A | c.3G>A | p.M1I | Missense | 1/14 | - | 2 |
| 5-74842850-G-C | c.3G>C | p.M1I | Missense | 1/14 | - | 1 |
| 5-74842850-G-T | c.3G>T | p.M1I | Missense | 1/14 | - | 1 |
| 5-74842854-A-G | c.7A>G | p.S3G | Missense | 1/14 | - | 1 |
| 5-74842860-A-T | c.13A>T | p.K5* | Nonsense | 1/14 | - | 1 |
| 5-74842861-A-C | c.14A>C | p.K5T | Missense | 1/14 | - | 1 |
| 5-74842863-G-T | c.16G>T | p.E6* | Nonsense | 1/14 | - | 1 |
| 5-74842871-T-A | c.24T>A | p.C8* | Nonsense | 1/14 | - | 1 |
| 5-74842875-A-G | c.28A>G | p.S10G | Missense | 1/14 | - | 1 |
| 5-74842875-AG-GA | c.28_29delinsGA | p.S10D | Missense | 1/14 | - | 2 |
| 5-74842875-AG-GC | c.28_29delinsGC | p.S10A | Missense | 1/14 | - | 3 |
| 5-74842875-A-T | c.28A>T | p.S10C | Missense | 1/14 | - | 3 |
| 5-74842881-A-G | c.34A>G | p.K12E | Missense | 1/14 | - | 1 |
| 5-74842884-G-C | c.37G>C | p.D13H | Missense | 1/14 | - | 1 |
| 5-74842883-AGAT-A | c.40_42del | p.D14del | InFrameDeletion | 1/14 | - | 1 |
| 5-74842887-G-A | c.40G>A | p.D14N | Missense | 1/14 | - | 1 |
| 5-74842890-C-A | c.43C>A | p.L15I | Missense | 1/14 | - | 2 |
| 5-74842893-C-T | c.46C>T | p.L16= | Synonymous | 1/14 | - | 1 |
| 5-74842895-G-A | c.48G>A | p.L16= | Synonymous | 1/14 | - | 1 |
| 5-74842895-G-C | c.48G>C | p.L16= | Synonymous | 1/14 | - | 1 |
| 5-74842895-G-T | c.48G>T | p.L16= | Synonymous | 1/14 | - | 1 |
| 5-74842897-T-C | c.50T>C | p.L17P | Missense | 1/14 | - | 1 |
| 5-74842902-A-G | c.55A>G | p.M19V | Missense | 1/14 | - | 1 |
| 5-74842904-G-A | c.57G>A | p.M19I | Missense | 1/14 | - | 1 |
| 5-74842905-GGA-AGC | c.58_60delinsAGC | p.G20S | Missense | 1/14 | - | 1 |
| 5-74842908-C-T | c.61C>T | p.L21F | Missense | 1/14 | - | 3 |
| 5-74842914-G-A | c.67G>A | p.D23N | Missense | 1/14 | - | 1 |
| 5-74842918-A-G | c.71A>G | p.N24S | Missense | 1/14 | - | 1 |
| 5-74842923-GCA-CAT | c.76_78delinsCAT | p.A26H | Missense | 1/14 | - | 1 |
| 5-74842924-C-T | c.77C>T | p.A26V | Missense | 1/14 | - | 1 |
| 5-74842932-G-A | c.85G>A | p.E29K | Missense | 1/14 | - | 19 |
| 5-74842932-G-T | c.85G>T | p.E29* | Nonsense | 1/14 | - | 1 |
| 5-74842935-G-T | c.88G>T | p.G30* | Nonsense | 1/14 | - | 3 |
| 5-74842936-G-A | c.89G>A | p.G30E | Missense | 1/14 | - | 1 |
| 5-74842936-GA-AC | c.89_90delinsAC | p.G30D | Missense | 1/14 | - | 1 |
| 5-74842942-A-T | c.95A>T | p.D32V | Missense | 1/14 | - | 1 |
| 5-74842947-GA-TT | c.100_101delinsTT | p.E34L | Missense | 1/14 | - | 1 |
| 5-74842947-G-T | c.100G>T | p.E34* | Nonsense | 1/14 | - | 1 |
| 5-74842949-G-C | c.102G>C | p.E34D | Missense | 1/14 | - | 1 |
| 5-74842949-G-T | c.102G>T | p.E34D | Missense | 1/14 | - | 1 |
| 5-74842953-A-G | c.106A>G | p.I36V | Missense | 1/14 | - | 1 |
| 5-74842958-C-G | c.111C>G | p.N37K | Missense | 1/14 | - | 1 |
| 5-74842963-T-C | c.116T>C | p.I39T | Missense | 1/14 | - | 2 |
| 5-74842977-A-C | c.130A>C | p.T44P | Missense | 1/14 | - | 1 |
| 5-74842978-CG-TC | c.131_132delinsTC | p.T44I | Missense | 1/14 | - | 1 |
| 5-74842978-C-T | c.131C>T | p.T44M | Missense | 1/14 | - | 5 |
| 5-74845441-A-G | c.135+2459A>G | - | IntronicSNV | - | 1/13 | 1 |
| 5-74848298-G-A | c.137G>A | p.G46E | Missense | 2/14 | - | 2 |
| 5-74848299-G-A | c.138G>A | p.G46= | Synonymous | 2/14 | - | 1 |
| 5-74848301-C-G | c.140C>G | p.S47C | Missense | 2/14 | - | 1 |
| 5-74848301-C-T | c.140C>T | p.S47F | Missense | 2/14 | - | 4 |
| 5-74848303-A-G | c.142A>G | p.R48G | Missense | 2/14 | - | 1 |
| 5-74848304-G-C | c.143G>C | p.R48T | Missense | 2/14 | - | 1 |
| 5-74848304-G-T | c.143G>T | p.R48I | Missense | 2/14 | - | 6 |
| 5-74848312-G-A | c.151G>A | p.G51R | Missense | 2/14 | - | 2 |
| 5-74848312-G-C | c.151G>C | p.G51R | Missense | 2/14 | - | 2 |
| 5-74848315-A-T | c.154A>T | p.N52Y | Missense | 2/14 | - | 1 |
| 5-74848316-A-C | c.155A>C | p.N52T | Missense | 2/14 | - | 1 |
| 5-74848326-G-A | c.165G>A | p.K55= | Synonymous | 2/14 | - | 2 |
| 5-74848331-A-G | c.170A>G | p.E57G | Missense | 2/14 | - | 1 |
| 5-74848334-A-T | c.173A>T | p.K58M | Missense | 2/14 | - | 1 |
| 5-74848335-G-A | c.174G>A | p.K58= | Synonymous | 2/14 | - | 3 |
| 5-74848339-G-A | c.178G>A | p.V60I | Missense | 2/14 | - | 2 |
| 5-74848342-A-G | c.181A>G | p.N61D | Missense | 2/14 | - | 1 |
| 5-74848343-A-G | c.182A>G | p.N61S | Missense | 2/14 | - | 3 |
| 5-74848345-C-G | c.184C>G | p.Q62E | Missense | 2/14 | - | 1 |
| 5-74848347-A-C | c.186A>C | p.Q62H | Missense | 2/14 | - | 1 |
| 5-74848347-A-T | c.186A>T | p.Q62H | Missense | 2/14 | - | 1 |
| 5-74848348-CGA-TGG | c.187_189delinsTGG | p.R63W | Missense | 2/14 | - | 1 |
| 5-74848348-C-T | c.187C>T | p.R63* | Nonsense | 2/14 | - | 2 |
| 5-74848349-G-A | c.188G>A | p.R63Q | Missense | 2/14 | - | 3 |
| 5-74848352-T-C | c.191T>C | p.I64T | Missense | 2/14 | - | 2 |
| 5-74848354-G-A | c.193G>A | p.E65K | Missense | 2/14 | - | 1 |
| 5-74848365-G-A | c.204G>A | p.M68I | Missense | 2/14 | - | 1 |
| 5-74848365-G-C | c.204G>C | p.M68I | Missense | 2/14 | - | 1 |
| 5-74848365-G-T | c.204G>T | p.M68I | Missense | 2/14 | - | 1 |
| 5-74848373-A-T | c.212A>T | p.K71I | Missense | 2/14 | - | 1 |
| 5-74848376-C-T | c.215C>T | p.A72V | Missense | 2/14 | - | 1 |
| 5-74848378-C-G | c.217C>G | p.Q73E | Missense | 2/14 | - | 1 |
| 5-74848380-A-C | c.219A>C | p.Q73H | Missense | 2/14 | - | 1 |
| 5-74848384-A-T | c.223A>T | p.T75S | Missense | 2/14 | - | 1 |
| 5-74848385-CC-TG | c.224_225delinsTG | p.T75M | Missense | 2/14 | - | 1 |
| 5-74848385-C-G | c.224C>G | p.T75S | Missense | 2/14 | - | 1 |
| 5-74848386-C-A | c.225C>A | p.T75= | Synonymous | 2/14 | - | 1 |
| 5-74848386-C-G | c.225C>G | p.T75= | Synonymous | 2/14 | - | 1 |
| 5-74848386-C-T | c.225C>T | p.T75= | Synonymous | 2/14 | - | 2 |
| 5-74848388-G-A | c.227G>A | p.S76N | Missense | 2/14 | - | 1 |
| 5-74848387-A-C | c.226A>C | p.S76R | Missense | 2/14 | - | 1 |
| 5-74848389-C-A | c.228C>A | p.S76R | Missense | 2/14 | - | 1 |
| 5-74848389-C-G | c.228C>G | p.S76R | Missense | 2/14 | - | 1 |
| 5-74848397-T-C | c.236T>C | p.L79P | Missense | 2/14 | - | 1 |
| 5-74848405-G-T | c.244G>T | p.A82S | Missense | 2/14 | - | 1 |
| 5-74848415-A-T | c.254A>T | p.Q85L | Missense | 2/14 | - | 1 |
| 5-74848416-G-C | c.255G>C | p.Q85H | Missense | 2/14 | - | 1 |
| 5-74855190-C-T | c.255+6774C>T | - | IntronicSNV | - | 2/13 | 1 |
| 5-74865166-T-C | c.257T>C | p.V86A | Missense | 3/14 | - | 1 |
| 5-74865169-A-G | c.260A>G | p.D87G | Missense | 3/14 | - | 2 |
| 5-74865170-C-A | c.261C>A | p.D87E | Missense | 3/14 | - | 1 |
| 5-74865170-C-G | c.261C>G | p.D87E | Missense | 3/14 | - | 1 |
| 5-74865170-C-T | c.261C>T | p.D87= | Synonymous | 3/14 | - | 1 |
| 5-74865172-G-T | c.263G>T | p.R88I | Missense | 3/14 | - | 1 |
| 5-74865174-TT-GC | c.265_266delinsGC | p.F89A | Missense | 3/14 | - | 1 |
| 5-74865175-T-C | c.266T>C | p.F89S | Missense | 3/14 | - | 4 |
| 5-74865183-G-A | c.274G>A | p.E92K | Missense | 3/14 | - | 1 |
| 5-74865189-G-A | c.280G>A | p.E94K | Missense | 3/14 | - | 1 |
| 5-74865196-G-C | c.287G>C | p.S96T | Missense | 3/14 | - | 1 |
| 5-74865196-G-T | c.287G>T | p.S96I | Missense | 3/14 | - | 3 |
| 5-74865197-C-T | c.288C>T | p.S96= | Synonymous | 3/14 | - | 1 |
| 5-74865198-C-T | c.289C>T | p.R97* | Nonsense | 3/14 | - | 2 |
| 5-74865199-G-A | c.290G>A | p.R97Q | Missense | 3/14 | - | 2 |
| 5-74865203-T-A | c.294T>A | p.N98K | Missense | 3/14 | - | 1 |
| 5-74865203-T-C | c.294T>C | p.N98= | Synonymous | 3/14 | - | 2 |
| 5-74865203-T-G | c.294T>G | p.N98K | Missense | 3/14 | - | 1 |
| 5-74865207-AG-GC | c.298_299delinsGC | p.S100A | Missense | 3/14 | - | 1 |
| 5-74865213-A-C | c.304A>C | p.T102P | Missense | 3/14 | - | 1 |
| 5-74865213-A-G | c.304A>G | p.T102A | Missense | 3/14 | - | 3 |
| 5-74865216-A-G | c.307A>G | p.I103V | Missense | 3/14 | - | 5 |
| 5-74865219-G-C | c.310G>C | p.V104L | Missense | 3/14 | - | 1 |
| 5-74865219-G-T | c.310G>T | p.V104L | Missense | 3/14 | - | 1 |
| 5-74865222-C-T | c.313C>T | p.H105Y | Missense | 3/14 | - | 1 |
| 5-74865228-G-A | c.319G>A | p.D107N | Missense | 3/14 | - | 1 |
| 5-74865231-A-G | c.322A>G | p.M108V | Missense | 3/14 | - | 1 |
| 5-74865233-G-T | c.324G>T | p.M108I | Missense | 3/14 | - | 1 |
| 5-74865234-G-A | c.325G>A | p.D109N | Missense | 3/14 | - | 4 |
| 5-74865234-G-C | c.325G>C | p.D109H | Missense | 3/14 | - | 4 |
| 5-74865240-T-C | c.331T>C | p.F111L | Missense | 3/14 | - | 1 |
| 5-74865242-C-A | c.333C>A | p.F111L | Missense | 3/14 | - | 2 |
| 5-74865242-C-G | c.333C>G | p.F111L | Missense | 3/14 | - | 1 |
| 5-74865249-G-A | c.340G>A | p.A114T | Missense | 3/14 | - | 1 |
| 5-74865252-G-A | c.343G>A | p.V115I | Missense | 3/14 | - | 1 |
| 5-74865252-G-T | c.343G>T | p.V115L | Missense | 3/14 | - | 1 |
| 5-74865260-G-GT | c.351_352insT | p.R118* | Nonsense | 3/14 | - | 1 |
| 5-74865261-AGG-TGT | c.352_354delinsTGT | p.R118C | Missense | 3/14 | - | 1 |
| 5-74865261-A-T | c.352A>T | p.R118W | Missense | 3/14 | - | 1 |
| 5-74865268-A-G | c.359A>G | p.N120S | Missense | 3/14 | - | 1 |
| 5-74865270-C-A | c.361C>A | p.P121T | Missense | 3/14 | - | 1 |
| 5-74865271-C-G | c.362C>G | p.P121R | Missense | 3/14 | - | 1 |
| 5-74865273-G-A | c.364G>A | p.E122K | Missense | 3/14 | - | 2 |
| 5-74865278-G-A | c.369G>A | p.L123= | Synonymous | 3/14 | - | 2 |
| 5-74865280-A-C | c.371A>C | p.K124T | Missense | 3/14 | - | 1 |
| 5-74865281-G-C | c.372G>C | p.K124N | Missense | 3/14 | - | 1 |
| 5-74865282-G-A | c.373G>A | p.D125N | Missense | 3/14 | - | 1 |
| 5-74865288-C-T | c.379C>T | p.P127S | Missense | 3/14 | - | 2 |
| 5-74865289-C-T | c.380C>T | p.P127L | Missense | 3/14 | - | 2 |
| 5-74865291-A-G | c.382A>G | p.I128V | Missense | 3/14 | - | 3 |
| 5-74865295-C-G | c.386C>G | p.A129G | Missense | 3/14 | - | 1 |
| 5-74865295-C-T | c.386C>T | p.A129V | Missense | 3/14 | - | 2 |
| 5-74865297-G-A | c.388G>A | p.V130I | Missense | 3/14 | - | 2 |
| 5-74865298-T-C | c.389T>C | p.V130A | Missense | 3/14 | - | 1 |
| 5-74865301-GA-AC | c.392_393delinsAC | p.G131D | Missense | 3/14 | - | 1 |
| 5-74865301-G-C | c.392G>C | p.G131A | Missense | 3/14 | - | 1 |
| 5-74865303-TCA-AAC | c.394_396delinsAAC | p.S132N | Missense | 3/14 | - | 1 |
| 5-74865303-TC-GG | c.394_395delinsGG | p.S132G | Missense | 3/14 | - | 1 |
| 5-74865306-A-G | c.397A>G | p.M133V | Missense | 3/14 | - | 1 |
| 5-74865308-G-A | c.399G>A | p.M133I | Missense | 3/14 | - | 2 |
| 5-74865308-G-C | c.399G>C | p.M133I | Missense | 3/14 | - | 3 |
| 5-74865308-G-T | c.399G>T | p.M133I | Missense | 3/14 | - | 2 |
| 5-74865309-AG-TT | c.400_401delinsTT | p.S134F | Missense | 3/14 | - | 2 |
| 5-74865312-AT-GC | c.403_404delinsGC | p.M135A | Missense | 3/14 | - | 1 |
| 5-74865314-G-A | c.405G>A | p.M135I | Missense | 3/14 | - | 1 |
| 5-74865314-G-C | c.405G>C | p.M135I | Missense | 3/14 | - | 1 |
| 5-74865314-G-T | c.405G>T | p.M135I | Missense | 3/14 | - | 1 |
| 5-74865315-C-A | c.406C>A | p.L136M | Missense | 3/14 | - | 1 |
| 5-74865315-C-T | c.406C>T | p.L136= | Synonymous | 3/14 | - | 1 |
| 5-74865317-G-A | c.408G>A | p.L136= | Synonymous | 3/14 | - | 1 |
| 5-74865317-G-C | c.408G>C | p.L136= | Synonymous | 3/14 | - | 1 |
| 5-74865317-G-T | c.408G>T | p.L136= | Synonymous | 3/14 | - | 1 |
| 5-74865318-G-A | c.408+1G>A | - | IntronicSNV | - | 3/13 | 1 |
| 5-74869564-C-T | c.410C>T | p.S137F | Missense | 4/14 | - | 2 |
| 5-74869565-T-A | c.411T>A | p.S137= | Synonymous | 4/14 | - | 2 |
| 5-74869565-T-C | c.411T>C | p.S137= | Synonymous | 4/14 | - | 2 |
| 5-74869565-T-G | c.411T>G | p.S137= | Synonymous | 4/14 | - | 2 |
| 5-74869572-A-G | c.418A>G | p.N140D | Missense | 4/14 | - | 1 |
| 5-74869576-A-G | c.422A>G | p.Y141C | Missense | 4/14 | - | 1 |
| 5-74869582-C-T | c.428C>T | p.A143V | Missense | 4/14 | - | 1 |
| 5-74869584-A-G | c.430A>G | p.R144G | Missense | 4/14 | - | 1 |
| 5-74869585-G-A | c.431G>A | p.R144K | Missense | 4/14 | - | 3 |
| 5-74869587-A-T | c.433A>T | p.R145* | Nonsense | 4/14 | - | 1 |
| 5-74869588-G-C | c.434G>C | p.R145T | Missense | 4/14 | - | 5 |
| 5-74869587-A-C | c.433A>C | p.R145= | Synonymous | 4/14 | - | 1 |
| 5-74869589-A-G | c.435A>G | p.R145= | Synonymous | 4/14 | - | 1 |
| 5-74869594-G-A | c.440G>A | p.G147D | Missense | 4/14 | - | 1 |
| 5-74869596-G-A | c.442G>A | p.V148I | Missense | 4/14 | - | 1 |
| 5-74869597-T-C | c.443T>C | p.V148A | Missense | 4/14 | - | 1 |
| 5-74869599-C-T | c.445C>T | p.R149C | Missense | 4/14 | - | 5 |
| 5-74869600-G-A | c.446G>A | p.R149H | Missense | 4/14 | - | 2 |
| 5-74869603-C-G | c.449C>G | p.A150G | Missense | 4/14 | - | 1 |
| 5-74869608-A-C | c.454A>C | p.M152L | Missense | 4/14 | - | 1 |
| 5-74869608-A-T | c.454A>T | p.M152L | Missense | 4/14 | - | 1 |
| 5-74869610-G-A | c.456G>A | p.M152I | Missense | 4/14 | - | 1 |
| 5-74869611-C-T | c.457C>T | p.P153S | Missense | 4/14 | - | 1 |
| 5-74869615-G-A | c.461G>A | p.G154E | Missense | 4/14 | - | 7 |
| 5-74869615-G-C | c.461G>C | p.G154A | Missense | 4/14 | - | 1 |
| 5-74869615-G-T | c.461G>T | p.G154V | Missense | 4/14 | - | 2 |
| 5-74869618-T-C | c.464T>C | p.F155S | Missense | 4/14 | - | 6 |
| 5-74869628-G-C | c.474G>C | p.K158N | Missense | 4/14 | - | 1 |
| 5-74869628-G-T | c.474G>T | p.K158N | Missense | 4/14 | - | 1 |
| 5-74869634-G-A | c.480G>A | p.L160= | Synonymous | 4/14 | - | 1 |
| 5-74869633-TGTGCCCACAACTTATAATA-T | c.486_504del | p.Q163Pfs*9 | Frameshift | 4/14 | - | 1 |
| 5-74869641-C-T | c.487C>T | p.Q163* | Nonsense | 4/14 | - | 1 |
| 5-74869646-T-A | c.492T>A | p.L164= | Synonymous | 4/14 | - | 1 |
| 5-74869646-T-C | c.492T>C | p.L164= | Synonymous | 4/14 | - | 1 |
| 5-74869646-T-G | c.492T>G | p.L164= | Synonymous | 4/14 | - | 1 |
| 5-74869651-T-C | c.497T>C | p.I166T | Missense | 4/14 | - | 1 |
| 5-74869656-C-T | c.502C>T | p.P168S | Missense | 4/14 | - | 1 |
| 5-74869659-C-A | c.505C>A | p.P169T | Missense | 4/14 | - | 4 |
| 5-74869659-C-T | c.505C>T | p.P169S | Missense | 4/14 | - | 1 |
| 5-74869655-G-GC | c.507dup | p.N170Qfs*3 | Frameshift | 4/14 | - | 2 |
| 5-74869661-C-A | c.507C>A | p.P169= | Synonymous | 4/14 | - | 1 |
| 5-74869661-C-G | c.507C>G | p.P169= | Synonymous | 4/14 | - | 1 |
| 5-74869661-C-T | c.507C>T | p.P169= | Synonymous | 4/14 | - | 1 |
| 5-74869665-TT-GC | c.511_512delinsGC | p.F171A | Missense | 4/14 | - | 2 |
| 5-74869666-T-C | c.512T>C | p.F171S | Missense | 4/14 | - | 3 |
| 5-74869667-T-C | c.513T>C | p.F171= | Synonymous | 4/14 | - | 2 |
| 5-74869670-C-A | c.516C>A | p.D172E | Missense | 4/14 | - | 1 |
| 5-74869670-C-G | c.516C>G | p.D172E | Missense | 4/14 | - | 1 |
| 5-74869676-C-T | c.522C>T | p.Y174= | Synonymous | 4/14 | - | 2 |
| 5-74869677-C-T | c.523C>T | p.R175* | Nonsense | 4/14 | - | 2 |
| 5-74869678-G-A | c.524G>A | p.R175Q | Missense | 4/14 | - | 1 |
| 5-74869680-G-A | c.526G>A | p.A176T | Missense | 4/14 | - | 1 |
| 5-74869689-A-C | c.535A>C | p.K179Q | Missense | 4/14 | - | 1 |
| 5-74869692-G-A | c.538G>A | p.E180K | Missense | 4/14 | - | 1 |
| 5-74869692-G-C | c.538G>C | p.E180Q | Missense | 4/14 | - | 1 |
| 5-74872610-G-C | c.546G>C | p.K182N | Missense | 5/14 | - | 1 |
| 5-74872610-G-T | c.546G>T | p.K182N | Missense | 5/14 | - | 1 |
| 5-74872611-G-A | c.547G>A | p.E183K | Missense | 5/14 | - | 1 |
| 5-74872612-A-T | c.548A>T | p.E183V | Missense | 5/14 | - | 1 |
| 5-74872620-G-A | c.556G>A | p.A186T | Missense | 5/14 | - | 1 |
| 5-74872621-C-T | c.557C>T | p.A186V | Missense | 5/14 | - | 1 |
| 5-74872630-A-G | c.566A>G | p.D189G | Missense | 5/14 | - | 3 |
| 5-74872636-A-C | c.572A>C | p.N191T | Missense | 5/14 | - | 1 |
| 5-74872639-T-G | c.575T>G | p.F192C | Missense | 5/14 | - | 3 |
| 5-74872648-T-C | c.584T>C | p.M195T | Missense | 5/14 | - | 1 |
| 5-74872650-AG-TT | c.586_587delinsTT | p.S196F | Missense | 5/14 | - | 1 |
| 5-74872656-G-A | c.592G>A | p.D198N | Missense | 5/14 | - | 1 |
| 5-74872657-A-C | c.593A>C | p.D198A | Missense | 5/14 | - | 2 |
| 5-74872659-G-T | c.595G>T | p.E199* | Nonsense | 5/14 | - | 1 |
| 5-74872660-A-C | c.596A>C | p.E199A | Missense | 5/14 | - | 2 |
| 5-74872666-A-G | c.602A>G | p.Y201C | Missense | 5/14 | - | 1 |
| 5-74872667-C-T | c.603C>T | p.Y201= | Synonymous | 5/14 | - | 2 |
| 5-74872668-T-A | c.604T>A | p.L202M | Missense | 5/14 | - | 1 |
| 5-74872668-T-G | c.604T>G | p.L202V | Missense | 5/14 | - | 1 |
| 5-74872678-C-A | c.614C>A | p.T205K | Missense | 5/14 | - | 1 |
| 5-74872678-C-T | c.614C>T | p.T205I | Missense | 5/14 | - | 3 |
| 5-74872681-A-G | c.617A>G | p.K206R | Missense | 5/14 | - | 1 |
| 5-74872690-A-G | c.626A>G | p.E209G | Missense | 5/14 | - | 1 |
| 5-74872695-A-G | c.631A>G | p.R211G | Missense | 5/14 | - | 1 |
| 5-74872703-T-C | c.639T>C | p.N213= | Synonymous | 5/14 | - | 2 |
| 5-74872704-T-G | c.640T>G | p.W214G | Missense | 5/14 | - | 2 |
| 5-74872710-G-A | c.646G>A | p.E216K | Missense | 5/14 | - | 3 |
| 5-74872715-TA-T | c.655del | p.R219Efs*11 | Frameshift | 5/14 | - | 1 |
| 5-74872719-A-T | c.655A>T | p.R219* | Nonsense | 5/14 | - | 3 |
| 5-74872720-G-T | c.656G>T | p.R219I | Missense | 5/14 | - | 4 |
| 5-74872726-A-G | c.662A>G | p.Y221C | Missense | 5/14 | - | 2 |
| 5-74872745-C-T | c.681C>T | p.S227= | Synonymous | 5/14 | - | 1 |
| 5-74872749-G-C | c.685G>C | p.V229L | Missense | 5/14 | - | 1 |
| 5-74872749-G-T | c.685G>T | p.V229L | Missense | 5/14 | - | 1 |
| 5-74872759-G-A | c.694+1G>A | - | IntronicSNV | - | 5/13 | 1 |
| 5-74872759-G-C | c.694+1G>C | - | IntronicSNV | - | 5/13 | 1 |
| 5-74872797-GAA-G | c.694+49_694+50del | - | IntronicDeletion | - | 5/13 | 2 |
| 5-74872797-GA-G | c.694+50del | - | IntronicDeletion | - | 5/13 | 1 |
| 5-74877039-C-G | c.700C>G | p.P234A | Missense | 6/14 | - | 1 |
| 5-74877051-G-A | c.712G>A | p.V238I | Missense | 6/14 | - | 1 |
| 5-74877054-A-T | c.715A>T | p.N239Y | Missense | 6/14 | - | 1 |
| 5-74877055-A-G | c.716A>G | p.N239S | Missense | 6/14 | - | 1 |
| 5-74877061-T-C | c.722T>C | p.L241P | Missense | 6/14 | - | 1 |
| 5-74877066-G-T | c.727G>T | p.E243* | Nonsense | 6/14 | - | 1 |
| 5-74877074-A-G | c.735A>G | p.E245= | Synonymous | 6/14 | - | 1 |
| 5-74877075-C-T | c.736C>T | p.R246* | Nonsense | 6/14 | - | 6 |
| 5-74877079-C-G | c.740C>G | p.S247C | Missense | 6/14 | - | 1 |
| 5-74877080-C-A | c.741C>A | p.S247= | Synonymous | 6/14 | - | 1 |
| 5-74877080-C-G | c.741C>G | p.S247= | Synonymous | 6/14 | - | 1 |
| 5-74877080-C-T | c.741C>T | p.S247= | Synonymous | 6/14 | - | 3 |
| 5-74877081-A-G | c.742A>G | p.I248V | Missense | 6/14 | - | 1 |
| 5-74877087-C-T | c.748C>T | p.P250S | Missense | 6/14 | - | 1 |
| 5-74877088-C-A | c.749C>A | p.P250Q | Missense | 6/14 | - | 2 |
| 5-74877088-C-T | c.749C>T | p.P250L | Missense | 6/14 | - | 1 |
| 5-74877097-T-G | c.758T>G | p.F253C | Missense | 6/14 | - | 1 |
| 5-74877099-G-A | c.760G>A | p.E254K | Missense | 6/14 | - | 3 |
| 5-74877105-A-G | c.766A>G | p.S256G | Missense | 6/14 | - | 1 |
| 5-74877111-TC-CT | c.772_773delinsCT | p.S258L | Missense | 6/14 | - | 1 |
| 5-74877112-C-G | c.773C>G | p.S258C | Missense | 6/14 | - | 1 |
| 5-74877115-A-G | c.776A>G | p.D259G | Missense | 6/14 | - | 1 |
| 5-74877117-G-T | c.778G>T | p.V260L | Missense | 6/14 | - | 1 |
| 5-74877122-G-A | c.783G>A | p.Q261= | Synonymous | 6/14 | - | 1 |
| 5-74877123-C-T | c.784C>T | p.P262S | Missense | 6/14 | - | 1 |
| 5-74877126-C-T | c.787C>T | p.P263S | Missense | 6/14 | - | 1 |
| 5-74877127-C-T | c.788C>T | p.P263L | Missense | 6/14 | - | 2 |
| 5-74877130-G-A | c.791G>A | p.G264E | Missense | 6/14 | - | 1 |
| 5-74877132-G-A | c.793G>A | p.D265N | Missense | 6/14 | - | 1 |
| 5-74877141-C-T | c.802C>T | p.Q268* | Nonsense | 6/14 | - | 1 |
| 5-74877148-A-G | c.809A>G | p.N270S | Missense | 6/14 | - | 1 |
| 5-74877150-T-G | c.811T>G | p.F271V | Missense | 6/14 | - | 2 |
| 5-74877153-G-A | c.814G>A | p.E272K | Missense | 6/14 | - | 2 |
| 5-74877155-A-C | c.816A>C | p.E272D | Missense | 6/14 | - | 1 |
| 5-74877155-A-G | c.816A>G | p.E272= | Synonymous | 6/14 | - | 1 |
| 5-74877155-A-T | c.816A>T | p.E272D | Missense | 6/14 | - | 1 |
| 5-74877160-A-G | c.821A>G | p.Q274R | Missense | 6/14 | - | 1 |
| 5-74877171-C-G | c.832C>G | p.Q278E | Missense | 6/14 | - | 1 |
| 5-74877172-A-T | c.833A>T | p.Q278L | Missense | 6/14 | - | 1 |
| 5-74877179-C-A | c.840C>A | p.L280= | Synonymous | 6/14 | - | 1 |
| 5-74877179-C-G | c.840C>G | p.L280= | Synonymous | 6/14 | - | 1 |
| 5-74877179-C-T | c.840C>T | p.L280= | Synonymous | 6/14 | - | 1 |
| 5-74877182-A-C | c.843A>C | p.Q281H | Missense | 6/14 | - | 1 |
| 5-74877182-A-T | c.843A>T | p.Q281H | Missense | 6/14 | - | 1 |
| 5-74877187-C-T | c.848C>T | p.S283L | Missense | 6/14 | - | 1 |
| 5-74877189-G-A | c.850G>A | p.V284I | Missense | 6/14 | - | 1 |
| 5-74877195-T-C | c.856T>C | p.F286L | Missense | 6/14 | - | 1 |
| 5-74877196-T-C | c.857T>C | p.F286S | Missense | 6/14 | - | 3 |
| 5-74877192-GT-G | c.858del | p.F286Lfs*9 | Frameshift | 6/14 | - | 1 |
| 5-74877198-GGA-AGC | c.859_861delinsAGC | p.G287S | Missense | 6/14 | - | 1 |
| 5-74877199-G-T | c.860G>T | p.G287V | Missense | 6/14 | - | 1 |
| 5-74877204-TCA-AAC | c.865_867delinsAAC | p.S289N | Missense | 6/14 | - | 1 |
| 5-74877205-C-A | c.866C>A | p.S289* | Nonsense | 6/14 | - | 1 |
| 5-74877213-G-A | c.874G>A | p.E292K | Missense | 6/14 | - | 4 |
| 5-74877213-G-T | c.874G>T | p.E292* | Nonsense | 6/14 | - | 1 |
| 5-74877216-G-A | c.877G>A | p.V293M | Missense | 6/14 | - | 1 |
| 5-74877216-G-C | c.877G>C | p.V293L | Missense | 6/14 | - | 1 |
| 5-74877216-G-T | c.877G>T | p.V293L | Missense | 6/14 | - | 1 |
| 5-74877225-G-A | c.886G>A | p.E296K | Missense | 6/14 | - | 1 |
| 5-74877231-C-T | c.892C>T | p.R298C | Missense | 6/14 | - | 9 |
| 5-74877232-G-A | c.893G>A | p.R298H | Missense | 6/14 | - | 7 |
| 5-74877234-T-C | c.895T>C | p.F299L | Missense | 6/14 | - | 1 |
| 5-74877255-A-C | c.916A>C | p.T306P | Missense | 6/14 | - | 1 |
| 5-74877265-C-T | c.926C>T | p.A309V | Missense | 6/14 | - | 1 |
| 5-74877266-C-A | c.927C>A | p.A309= | Synonymous | 6/14 | - | 1 |
| 5-74877266-C-G | c.927C>G | p.A309= | Synonymous | 6/14 | - | 1 |
| 5-74877266-C-T | c.927C>T | p.A309= | Synonymous | 6/14 | - | 12 |
| 5-74877270-G-T | c.931G>T | p.A311S | Missense | 6/14 | - | 1 |
| 5-74877275-T-C | c.934+2T>C | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877392-T-C | c.934+119T>C | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877794-G-A | c.934+521G>A | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877803-T-C | c.934+530T>C | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877919-A-G | c.934+646A>G | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877926-G-T | c.934+653G>T | - | IntronicSNV | - | 6/13 | 1 |
| 5-74877939-C-T | c.934+666C>T | - | IntronicSNV | - | 6/13 | 1 |
| 5-74879119-C-G | c.936C>G | p.G312= | Synonymous | 7/14 | - | 1 |
| 5-74879123-G-T | c.940G>T | p.A314S | Missense | 7/14 | - | 1 |
| 5-74879125-C-T | c.942C>T | p.A314= | Synonymous | 7/14 | - | 1 |
| 5-74879126-C-G | c.943C>G | p.P315A | Missense | 7/14 | - | 1 |
| 5-74879127-C-A | c.944C>A | p.P315Q | Missense | 7/14 | - | 1 |
| 5-74879135-A-G | c.952A>G | p.M318V | Missense | 7/14 | - | 2 |
| 5-74879136-T-A | c.953T>A | p.M318K | Missense | 7/14 | - | 1 |
| 5-74879136-T-C | c.953T>C | p.M318T | Missense | 7/14 | - | 3 |
| 5-74879154-G-A | c.971G>A | p.S324N | Missense | 7/14 | - | 1 |
| 5-74879156-G-T | c.973G>T | p.D325Y | Missense | 7/14 | - | 1 |
| 5-74879157-A-G | c.974A>G | p.D325G | Missense | 7/14 | - | 1 |
| 5-74879166-A-G | c.983A>G | p.K328R | Missense | 7/14 | - | 1 |
| 5-74879168-C-T | c.985C>T | p.P329S | Missense | 7/14 | - | 1 |
| 5-74879171-A-G | c.988A>G | p.N330D | Missense | 7/14 | - | 5 |
| 5-74879174-G-A | c.991G>A | p.G331R | Missense | 7/14 | - | 1 |
| 5-74879178-A-G | c.995A>G | p.Q332R | Missense | 7/14 | - | 1 |
| 5-74879183-C-A | c.1000C>A | p.Q334K | Missense | 7/14 | - | 1 |
| 5-74879186-A-G | c.1003A>G | p.I335V | Missense | 7/14 | - | 1 |
| 5-74879191-T-A | c.1008T>A | p.L336= | Synonymous | 7/14 | - | 1 |
| 5-74879191-T-C | c.1008T>C | p.L336= | Synonymous | 7/14 | - | 1 |
| 5-74879191-T-G | c.1008T>G | p.L336= | Synonymous | 7/14 | - | 1 |
| 5-74879192-C-T | c.1009C>T | p.P337S | Missense | 7/14 | - | 1 |
| 5-74879195-A-G | c.1012A>G | p.N338D | Missense | 7/14 | - | 1 |
| 5-74879204-G-A | c.1021G>A | p.A341T | Missense | 7/14 | - | 1 |
| 5-74879216-T-A | c.1033T>A | p.F345I | Missense | 7/14 | - | 1 |
| 5-74879219-A-G | c.1036A>G | p.I346V | Missense | 7/14 | - | 1 |
| 5-74879221-C-A | c.1038C>A | p.I346= | Synonymous | 7/14 | - | 1 |
| 5-74879221-C-G | c.1038C>G | p.I346M | Missense | 7/14 | - | 3 |
| 5-74879221-C-T | c.1038C>T | p.I346= | Synonymous | 7/14 | - | 1 |
| 5-74879235-T-C | c.1052T>C | p.I351T | Missense | 7/14 | - | 1 |
| 5-74879236-T-G | c.1053T>G | p.I351M | Missense | 7/14 | - | 1 |
| 5-74879237-AGA-CAT | c.1054_1056delinsCAT | p.R352H | Missense | 7/14 | - | 1 |
| 5-74879237-AG-CA | c.1054_1055delinsCA | p.R352Q | Missense | 7/14 | - | 1 |
| 5-74879241-A-C | c.1058A>C | p.K353T | Missense | 7/14 | - | 2 |
| 5-74880588-TC-CG | c.1063_1064delinsCG | p.S355R | Missense | 8/14 | - | 1 |
| 5-74880597-G-A | c.1072G>A | p.G358R | Missense | 8/14 | - | 1 |
| 5-74880597-G-T | c.1072G>T | p.G358* | Nonsense | 8/14 | - | 2 |
| 5-74880606-A-T | c.1081A>T | p.T361S | Missense | 8/14 | - | 1 |
| 5-74880607-CA-TG | c.1082_1083inv | p.T361M | Missense | 8/14 | - | 1 |
| 5-74880614-A-C | c.1089A>C | p.K363N | Missense | 8/14 | - | 1 |
| 5-74880615-A-C | c.1090A>C | p.M364L | Missense | 8/14 | - | 3 |
| 5-74880615-A-G | c.1090A>G | p.M364V | Missense | 8/14 | - | 1 |
| 5-74880615-A-T | c.1090A>T | p.M364L | Missense | 8/14 | - | 2 |
| 5-74880616-T-C | c.1091T>C | p.M364T | Missense | 8/14 | - | 2 |
| 5-74880625-C-G | c.1100C>G | p.A367G | Missense | 8/14 | - | 1 |
| 5-74880628-T-C | c.1103T>C | p.L368P | Missense | 8/14 | - | 1 |
| 5-74880634-T-G | c.1109T>G | p.I370S | Missense | 8/14 | - | 1 |
| 5-74880636-A-G | c.1111A>G | p.I371V | Missense | 8/14 | - | 1 |
| 5-74880637-T-C | c.1112T>C | p.I371T | Missense | 8/14 | - | 2 |
| 5-74880643-G-T | c.1118G>T | p.C373F | Missense | 8/14 | - | 1 |
| 5-74880646-C-A | c.1121C>A | p.T374K | Missense | 8/14 | - | 1 |
| 5-74880646-C-T | c.1121C>T | p.T374I | Missense | 8/14 | - | 1 |
| 5-74880648-G-C | c.1123G>C | p.E375Q | Missense | 8/14 | - | 1 |
| 5-74880651-C-T | c.1126C>T | p.L376F | Missense | 8/14 | - | 1 |
| 5-74880662-G-A | c.1137G>A | p.Q379= | Synonymous | 8/14 | - | 1 |
| 5-74880666-G-A | c.1141G>A | p.A381T | Missense | 8/14 | - | 1 |
| 5-74880667-C-A | c.1142C>A | p.A381E | Missense | 8/14 | - | 1 |
| 5-74880671-G-A | c.1146G>A | p.L382= | Synonymous | 8/14 | - | 1 |
| 5-74880672-C-T | c.1147C>T | p.L383F | Missense | 8/14 | - | 1 |
| 5-74880682-T-C | c.1157T>C | p.L386P | Missense | 8/14 | - | 1 |
| 5-74880693-A-G | c.1168A>G | p.T390A | Missense | 8/14 | - | 1 |
| 5-74880700-G-T | c.1175G>T | p.W392L | Missense | 8/14 | - | 1 |
| 5-74880702-C-T | c.1177C>T | p.H393Y | Missense | 8/14 | - | 1 |
| 5-74880703-A-T | c.1178A>T | p.H393L | Missense | 8/14 | - | 1 |
| 5-74880711-C-T | c.1186C>T | p.L396F | Missense | 8/14 | - | 1 |
| 5-74880715-A-G | c.1190A>G | p.H397R | Missense | 8/14 | - | 1 |
| 5-74880717-A-G | c.1192A>G | p.I398V | Missense | 8/14 | - | 1 |
| 5-74880722-C-A | c.1197C>A | p.S399= | Synonymous | 8/14 | - | 1 |
| 5-74880726-G-A | c.1201G>A | p.G401S | Missense | 8/14 | - | 1 |
| 5-74880726-G-C | c.1201G>C | p.G401R | Missense | 8/14 | - | 1 |
| 5-74880726-G-T | c.1201G>T | p.G401C | UnclassifiedSNV | 8/14 | - | 2 |
| 5-74880727-G-A | c.1202G>A | p.G401D | Missense | 8/14 | - | 1 |
| 5-74880729-C-G | c.1204C>G | p.L402V | Missense | 8/14 | - | 2 |
| 5-74880730-T-C | c.1205T>C | p.L402P | Missense | 8/14 | - | 1 |
| 5-74880731-A-G | c.1206A>G | p.L402= | Synonymous | 8/14 | - | 1 |
| 5-74880733-G-A | c.1208G>A | p.G403D | Missense | 8/14 | - | 9 |
| 5-74880736-C-A | c.1211C>A | p.S404* | Nonsense | 8/14 | - | 1 |
| 5-74880736-CA-AT | c.1211_1212delinsAT | p.S404Y | Missense | 8/14 | - | 1 |
| 5-74880736-C-G | c.1211C>G | p.S404* | Nonsense | 8/14 | - | 2 |
| 5-74880736-C-T | c.1211C>T | p.S404L | Missense | 8/14 | - | 1 |
| 5-74880739-C-T | c.1214C>T | p.T405I | Missense | 8/14 | - | 1 |
| 5-74880740-A-C | c.1215A>C | p.T405= | Synonymous | 8/14 | - | 1 |
| 5-74880740-A-G | c.1215A>G | p.T405= | Synonymous | 8/14 | - | 1 |
| 5-74880740-A-T | c.1215A>T | p.T405= | Synonymous | 8/14 | - | 1 |
| 5-74880741-C-T | c.1216C>T | p.H406Y | Missense | 8/14 | - | 2 |
| 5-74880747-A-T | c.1222A>T | p.T408S | Missense | 8/14 | - | 1 |
| 5-74880749-G-T | c.1224G>T | p.T408= | Synonymous | 8/14 | - | 1 |
| 5-74880751-G-T | c.1226G>T | p.R409M | Missense | 8/14 | - | 2 |
| 5-74880753-T-G | c.1226+2T>G | - | IntronicSNV | - | 8/13 | 1 |
| 5-74880841-G-A | c.1226+90G>A | - | IntronicSNV | - | 8/13 | 1 |
| 5-74882851-G-C | c.1227G>C | p.R409S | Missense | 9/14 | - | 1 |
| 5-74882853-A-T | c.1229A>T | p.D410V | Missense | 9/14 | - | 1 |
| 5-74882856-G-A | c.1232G>A | p.G411E | Missense | 9/14 | - | 1 |
| 5-74882859-A-G | c.1235A>G | p.E412G | Missense | 9/14 | - | 1 |
| 5-74882863-G-GT | c.1239_1240insT | p.K414* | Nonsense | 9/14 | - | 1 |
| 5-74882863-G-T | c.1239G>T | p.R413S | Missense | 9/14 | - | 1 |
| 5-74882863-GA-G | c.1243del | p.S415Vfs*2 | Frameshift | 9/14 | - | 4 |
| 5-74882867-AGT-TGA | c.1243_1245delinsTGA | p.S415* | Nonsense | 9/14 | - | 1 |
| 5-74882868-G-A | c.1244G>A | p.S415N | Missense | 9/14 | - | 1 |
| 5-74882873-A-T | c.1249A>T | p.S417C | Missense | 9/14 | - | 4 |
| 5-74882875-C-T | c.1251C>T | p.S417= | Synonymous | 9/14 | - | 1 |
| 5-74882876-G-A | c.1252G>A | p.V418I | Missense | 9/14 | - | 1 |
| 5-74882880-A-G | c.1256A>G | p.E419G | Missense | 9/14 | - | 7 |
| 5-74882881-G-A | c.1257G>A | p.E419= | Synonymous | 9/14 | - | 2 |
| 5-74886171-C-T | c.1262C>T | p.T421I | Missense | 10/14 | - | 1 |
| 5-74886176-A-C | c.1267A>C | p.S423R | Missense | 10/14 | - | 5 |
| 5-74886178-T-A | c.1269T>A | p.S423R | Missense | 10/14 | - | 3 |
| 5-74886178-T-G | c.1269T>G | p.S423R | Missense | 10/14 | - | 3 |
| 5-74886179-G-C | c.1270G>C | p.E424Q | Missense | 10/14 | - | 1 |
| 5-74886181-G-C | c.1272G>C | p.E424D | Missense | 10/14 | - | 1 |
| 5-74886190-A-G | c.1281A>G | p.K427= | Synonymous | 10/14 | - | 1 |
| 5-74886191-G-T | c.1282G>T | p.A428S | Missense | 10/14 | - | 1 |
| 5-74886192-C-G | c.1283C>G | p.A428G | Missense | 10/14 | - | 1 |
| 5-74886192-C-T | c.1283C>T | p.A428V | Missense | 10/14 | - | 2 |
| 5-74886193-G-A | c.1284G>A | p.A428= | Synonymous | 10/14 | - | 6 |
| 5-74886193-G-C | c.1284G>C | p.A428= | Synonymous | 10/14 | - | 2 |
| 5-74886193-G-T | c.1284G>T | p.A428= | Synonymous | 10/14 | - | 2 |
| 5-74886194-G-A | c.1285G>A | p.E429K | Missense | 10/14 | - | 1 |
| 5-74886197-G-A | c.1288G>A | p.E430K | Missense | 10/14 | - | 3 |
| 5-74886198-A-G | c.1289A>G | p.E430G | Missense | 10/14 | - | 5 |
| 5-74886204-A-C | c.1295A>C | p.Y432S | Missense | 10/14 | - | 3 |
| 5-74886205-C-T | c.1296C>T | p.Y432= | Synonymous | 10/14 | - | 1 |
| 5-74886210-T-C | c.1301T>C | p.L434P | Missense | 10/14 | - | 1 |
| 5-74886218-G-C | c.1309G>C | p.E437Q | Missense | 10/14 | - | 1 |
| 5-74886221-C-A | c.1312C>A | p.L438I | Missense | 10/14 | - | 1 |
| 5-74886225-G-T | c.1316G>T | p.C439F | Missense | 10/14 | - | 1 |
| 5-74886228-G-A | c.1319G>A | p.S440N | Missense | 10/14 | - | 2 |
| 5-74886233-C-T | c.1324C>T | p.L442F | Missense | 10/14 | - | 5 |
| 5-74886242-G-A | c.1333G>A | p.D445N | Missense | 10/14 | - | 1 |
| 5-74886244-T-G | c.1335T>G | p.D445E | Missense | 10/14 | - | 1 |
| 5-74886245-TC-T | c.1336del | p.L446Yfs*15 | Frameshift | 10/14 | - | 1 |
| 5-74886245-C-T | c.1336C>T | p.L446= | Synonymous | 10/14 | - | 1 |
| 5-74886247-A-C | c.1338A>C | p.L446= | Synonymous | 10/14 | - | 1 |
| 5-74886247-A-G | c.1338A>G | p.L446= | Synonymous | 10/14 | - | 1 |
| 5-74886247-A-T | c.1338A>T | p.L446= | Synonymous | 10/14 | - | 1 |
| 5-74886249-A-G | c.1340A>G | p.Q447R | Missense | 10/14 | - | 1 |
| 5-74886250-G-A | c.1341G>A | p.Q447= | Synonymous | 10/14 | - | 4 |
| 5-74886254-G-A | c.1345G>A | p.E449K | Missense | 10/14 | - | 5 |
| 5-74886258-G-A | c.1349G>A | p.R450K | Missense | 10/14 | - | 1 |
| 5-74886260-C-T | c.1351C>T | p.L451F | Missense | 10/14 | - | 1 |
| 5-74886301-G-GT | c.1356+42dup | - | IntronicInsertion | - | 10/13 | 1 |
| 5-74886384-G-A | c.1356+119G>A | - | IntronicSNV | - | 10/13 | 1 |
| 5-74889706-AGA-TGT | c.1360_1362delinsTGT | p.R454C | Missense | 11/14 | - | 1 |
| 5-74889706-A-T | c.1360A>T | p.R454* | Nonsense | 11/14 | - | 1 |
| 5-74889710-C-A | c.1364C>A | p.T455N | Missense | 11/14 | - | 1 |
| 5-74889712-GTT-ATG | c.1366_1368delinsATG | p.V456M | Missense | 11/14 | - | 2 |
| 5-74889727-A-G | c.1381A>G | p.K461E | Missense | 11/14 | - | 5 |
| 5-74889729-G-C | c.1383G>C | p.K461N | Missense | 11/14 | - | 1 |
| 5-74889729-G-T | c.1383G>T | p.K461N | Missense | 11/14 | - | 1 |
| 5-74889731-A-G | c.1385A>G | p.N462S | Missense | 11/14 | - | 1 |
| 5-74889739-T-G | c.1393T>G | p.F465V | Missense | 11/14 | - | 1 |
| 5-74889742-G-GA | c.1398dup | p.V467Sfs*23 | Frameshift | 11/14 | - | 1 |
| 5-74889744-A-G | c.1398A>G | p.E466= | Synonymous | 11/14 | - | 1 |
| 5-74889745-G-A | c.1399G>A | p.V467I | Missense | 11/14 | - | 1 |
| 5-74889748-A-C | c.1402A>C | p.K468Q | Missense | 11/14 | - | 1 |
| 5-74889754-C-T | c.1408C>T | p.R470C | Missense | 11/14 | - | 3 |
| 5-74889755-G-A | c.1409G>A | p.R470H | Missense | 11/14 | - | 2 |
| 5-74889758-C-T | c.1412C>T | p.A471V | Missense | 11/14 | - | 5 |
| 5-74889763-ACA-TGG | c.1417_1419delinsTGG | p.T473W | Missense | 11/14 | - | 1 |
| 5-74889763-A-G | c.1417A>G | p.T473A | Missense | 11/14 | - | 4 |
| 5-74889770-C-A | c.1424C>A | p.S475* | Nonsense | 11/14 | - | 1 |
| 5-74889770-C-G | c.1424C>G | p.S475* | Nonsense | 11/14 | - | 1 |
| 5-74889775-G-A | c.1429G>A | p.V477I | Missense | 11/14 | - | 1 |
| 5-74889778-G-A | c.1432G>A | p.V478I | Missense | 11/14 | - | 1 |
| 5-74889778-G-C | c.1432G>C | p.V478L | Missense | 11/14 | - | 1 |
| 5-74889783-T-C | c.1437T>C | p.S479= | Synonymous | 11/14 | - | 1 |
| 5-74889787-G-A | c.1441G>A | p.A481T | Missense | 11/14 | - | 1 |
| 5-74889790-G-A | c.1444G>A | p.E482K | Missense | 11/14 | - | 1 |
| 5-74889790-G-T | c.1444G>T | p.E482* | Nonsense | 11/14 | - | 1 |
| 5-74889793-G-T | c.1447G>T | p.E483* | Nonsense | 11/14 | - | 1 |
| 5-74889796-A-G | c.1450A>G | p.I484V | Missense | 11/14 | - | 1 |
| 5-74889799-T-C | c.1453T>C | p.F485L | Missense | 11/14 | - | 1 |
| 5-74889806-T-C | c.1460T>C | p.I487T | Missense | 11/14 | - | 5 |
| 5-74889808-G-A | c.1462G>A | p.A488T | Missense | 11/14 | - | 1 |
| 5-74889808-G-T | c.1462G>T | p.A488S | Missense | 11/14 | - | 1 |
| 5-74889812-A-T | c.1466A>T | p.K489M | Missense | 11/14 | - | 1 |
| 5-74889825-A-G | c.1479A>G | p.K493= | Synonymous | 11/14 | - | 1 |
| 5-74889826-A-G | c.1480A>G | p.T494A | Missense | 11/14 | - | 1 |
| 5-74889829-G-A | c.1483G>A | p.E495K | Missense | 11/14 | - | 2 |
| 5-74889836-A-T | c.1490A>T | p.D497V | Missense | 11/14 | - | 1 |
| 5-74889842-A-G | c.1496A>G | p.D499G | Missense | 11/14 | - | 2 |
| 5-74889843-T-C | c.1497T>C | p.D499= | Synonymous | 11/14 | - | 1 |
| 5-74889848-C-T | c.1502C>T | p.P501L | Missense | 11/14 | - | 1 |
| 5-74889854-C-A | c.1508C>A | p.P503H | Missense | 11/14 | - | 2 |
| 5-74889854-C-T | c.1508C>T | p.P503L | Missense | 11/14 | - | 4 |
| 5-74889856-T-A | c.1510T>A | p.L504M | Missense | 11/14 | - | 1 |
| 5-74889859-A-G | c.1513A>G | p.R505G | Missense | 11/14 | - | 1 |
| 5-74889860-G-A | c.1514G>A | p.R505K | Missense | 11/14 | - | 1 |
| 5-74889874-G-A | c.1528G>A | p.G510S | Missense | 11/14 | - | 3 |
| 5-74889875-G-T | c.1528+1G>T | - | IntronicSNV | - | 11/13 | 1 |
| 5-74890855-T-C | c.1528+981T>C | - | IntronicSNV | - | 11/13 | 1 |
| 5-74890856-G-A | c.1528+982G>A | - | IntronicSNV | - | 11/13 | 1 |
| 5-74892047-G-A | c.1529G>A | p.G510D | Missense | 12/14 | - | 3 |
| 5-74892052-C-A | c.1534C>A | p.R512= | Synonymous | 12/14 | - | 1 |
| 5-74892052-C-T | c.1534C>T | p.R512W | Missense | 12/14 | - | 4 |
| 5-74892054-G-A | c.1536G>A | p.R512= | Synonymous | 12/14 | - | 1 |
| 5-74892054-G-C | c.1536G>C | p.R512= | Synonymous | 12/14 | - | 1 |
| 5-74892054-G-T | c.1536G>T | p.R512= | Synonymous | 12/14 | - | 1 |
| 5-74892053-G-A | c.1535G>A | p.R512Q | Missense | 12/14 | - | 2 |
| 5-74892053-G-T | c.1535G>T | p.R512L | Missense | 12/14 | - | 1 |
| 5-74892055-A-G | c.1537A>G | p.I513V | Missense | 12/14 | - | 2 |
| 5-74892057-A-G | c.1539A>G | p.I513M | Missense | 12/14 | - | 1 |
| 5-74892057-TA-T | c.1539del | p.S514Lfs*34 | Frameshift | 12/14 | - | 2 |
| 5-74892059-C-T | c.1541C>T | p.S514F | Missense | 12/14 | - | 1 |
| 5-74892061-A-G | c.1543A>G | p.S515G | Missense | 12/14 | - | 1 |
| 5-74892062-GT-G | c.1548del | p.N518Mfs*30 | Frameshift | 12/14 | - | 1 |
| 5-74892067-C-T | c.1549C>T | p.P517S | Missense | 12/14 | - | 1 |
| 5-74892070-A-G | c.1552A>G | p.N518D | Missense | 12/14 | - | 3 |
| 5-74892072-T-C | c.1554T>C | p.N518= | Synonymous | 12/14 | - | 1 |
| 5-74892074-A-G | c.1556A>G | p.E519G | Missense | 12/14 | - | 1 |
| 5-74892076-G-A | c.1558G>A | p.E520K | Missense | 12/14 | - | 2 |
| 5-74892079-G-T | c.1561G>T | p.D521Y | Missense | 12/14 | - | 1 |
| 5-74892089-A-G | c.1571A>G | p.H524R | Missense | 12/14 | - | 1 |
| 5-74892093-A-G | c.1575A>G | p.Q525= | Synonymous | 12/14 | - | 1 |
| 5-74892095-A-G | c.1577A>G | p.Q526R | Missense | 12/14 | - | 1 |
| 5-74892100-A-T | c.1582A>T | p.S528C | Missense | 12/14 | - | 3 |
| 5-74892101-G-A | c.1583G>A | p.S528N | Missense | 12/14 | - | 3 |
| 5-74892101-G-T | c.1583G>T | p.S528I | Missense | 12/14 | - | 3 |
| 5-74892103-A-G | c.1585A>G | p.I529V | Missense | 12/14 | - | 6 |
| 5-74892103-A-T | c.1585A>T | p.I529F | Missense | 12/14 | - | 1 |
| 5-74892111-C-A | c.1593C>A | p.G531= | Synonymous | 12/14 | - | 1 |
| 5-74892114-T-C | c.1596T>C | p.F532= | Synonymous | 12/14 | - | 1 |
| 5-74892120-G-C | c.1602G>C | p.Q534H | Missense | 12/14 | - | 1 |
| 5-74892120-G-T | c.1602G>T | p.Q534H | Missense | 12/14 | - | 1 |
| 5-74892121-G-C | c.1603G>C | p.A535P | Missense | 12/14 | - | 2 |
| 5-74892125-G-A | c.1607G>A | p.G536E | Missense | 12/14 | - | 2 |
| 5-74892126-A-C | c.1608A>C | p.G536= | Synonymous | 12/14 | - | 1 |
| 5-74892126-A-G | c.1608A>G | p.G536= | Synonymous | 12/14 | - | 1 |
| 5-74892126-A-T | c.1608A>T | p.G536= | Synonymous | 12/14 | - | 1 |
| 5-74892136-C-G | c.1618C>G | p.L540V | Missense | 12/14 | - | 1 |
| 5-74892145-A-G | c.1627A>G | p.T543A | Missense | 12/14 | - | 1 |
| 5-74892149-GA-G | c.1631del | p.E544Gfs*4 | Frameshift | 12/14 | - | 1 |
| 5-74892152-G-A | c.1634G>A | p.C545Y | Missense | 12/14 | - | 1 |
| 5-74892160-G-A | c.1642G>A | p.E548K | Missense | 12/14 | - | 1 |
| 5-74892160-G-T | c.1642G>T | p.E548* | Nonsense | 12/14 | - | 2 |
| 5-74892161-A-G | c.1643A>G | p.E548G | Missense | 12/14 | - | 1 |
| 5-74892162-G-GA | c.1648dup | p.T550Nfs*2 | Frameshift | 12/14 | - | 1 |
| 5-74892167-C-T | c.1649C>T | p.T550I | Missense | 12/14 | - | 1 |
| 5-74892169-G-A | c.1651G>A | p.D551N | Missense | 12/14 | - | 3 |
| 5-74892170-A-T | c.1652A>T | p.D551V | Missense | 12/14 | - | 3 |
| 5-74892173-A-T | c.1655A>T | p.K552I | Missense | 12/14 | - | 1 |
| 5-74892175-G-T | c.1657G>T | p.D553Y | Missense | 12/14 | - | 2 |
| 5-74892176-A-G | c.1658A>G | p.D553G | Missense | 12/14 | - | 1 |
| 5-74892179-A-C | c.1661A>C | p.K554T | Missense | 12/14 | - | 1 |
| 5-74892196-G-A | c.1678G>A | p.E560K | Missense | 12/14 | - | 2 |
| 5-74892199-A-G | c.1681A>G | p.M561V | Missense | 12/14 | - | 1 |
| 5-74892210-G-A | c.1692G>A | p.K564= | Synonymous | 12/14 | - | 5 |
| 5-74892210-G-C | c.1692G>C | p.K564N | Missense | 12/14 | - | 1 |
| 5-74892213-G-C | c.1695G>C | p.K565N | Missense | 12/14 | - | 1 |
| 5-74892213-G-T | c.1695G>T | p.K565N | Missense | 12/14 | - | 1 |
| 5-74892214-A-G | c.1696A>G | p.S566G | Missense | 12/14 | - | 3 |
| 5-74892217-T-C | c.1699T>C | p.F567L | Missense | 12/14 | - | 1 |
| 5-74892217-T-G | c.1699T>G | p.F567V | Missense | 12/14 | - | 1 |
| 5-74892219-C-A | c.1701C>A | p.F567L | Missense | 12/14 | - | 1 |
| 5-74892218-T-G | c.1700T>G | p.F567C | Missense | 12/14 | - | 1 |
| 5-74892219-C-G | c.1701C>G | p.F567L | Missense | 12/14 | - | 2 |
| 5-74892224-A-C | c.1706A>C | p.D569A | Missense | 12/14 | - | 1 |
| 5-74892229-A-G | c.1711A>G | p.K571E | Missense | 12/14 | - | 1 |
| 5-74892225-TA-T | c.1713del | p.K571Nfs*18 | Frameshift | 12/14 | - | 3 |
| 5-74892232-C-A | c.1714C>A | p.R572= | Synonymous | 12/14 | - | 1 |
| 5-74892232-CGA-TGT | c.1714_1716delinsTGT | p.R572C | Missense | 12/14 | - | 1 |
| 5-74892232-C-T | c.1714C>T | p.R572* | Nonsense | 12/14 | - | 3 |
| 5-74892234-A-C | c.1716A>C | p.R572= | Synonymous | 12/14 | - | 1 |
| 5-74892234-A-G | c.1716A>G | p.R572= | Synonymous | 12/14 | - | 1 |
| 5-74892234-A-T | c.1716A>T | p.R572= | Synonymous | 12/14 | - | 1 |
| 5-74892233-G-A | c.1715G>A | p.R572Q | Missense | 12/14 | - | 3 |
| 5-74892233-G-T | c.1715G>T | p.R572L | Missense | 12/14 | - | 3 |
| 5-74892237-A-T | c.1719A>T | p.S573= | Synonymous | 12/14 | - | 1 |
| 5-74892241-A-G | c.1723A>G | p.R575G | Missense | 12/14 | - | 1 |
| 5-74892242-G-A | c.1724G>A | p.R575K | Missense | 12/14 | - | 2 |
| 5-74892246-A-T | c.1728A>T | p.K576N | Missense | 12/14 | - | 1 |
| 5-74892248-G-A | c.1730G>A | p.W577* | Nonsense | 12/14 | - | 1 |
| 5-74892250-A-T | c.1732A>T | p.S578C | Missense | 12/14 | - | 1 |
| 5-74892259-G-A | c.1741G>A | p.D581N | Missense | 12/14 | - | 5 |
| 5-74892272-G-A | c.1754G>A | p.C585Y | Missense | 12/14 | - | 2 |
| 5-74892275-A-G | c.1757A>G | p.E586G | Missense | 12/14 | - | 1 |
| 5-74892276-A-G | c.1758A>G | p.E586= | Synonymous | 12/14 | - | 3 |
| 5-74892279-C-A | c.1761C>A | p.A587= | Synonymous | 12/14 | - | 2 |
| 5-74892279-C-G | c.1761C>G | p.A587= | Synonymous | 12/14 | - | 1 |
| 5-74892279-C-T | c.1761C>T | p.A587= | Synonymous | 12/14 | - | 2 |
| 5-74892280-G-A | c.1762G>A | p.V588M | Missense | 12/14 | - | 5 |
| 5-74892280-G-C | c.1762G>C | p.V588L | Missense | 12/14 | - | 2 |
| 5-74892280-G-T | c.1762G>T | p.V588L | Missense | 12/14 | - | 2 |
| 5-74892282-G-A | c.1764G>A | p.V588= | Synonymous | 12/14 | - | 2 |
| 5-74892282-G-C | c.1764G>C | p.V588= | Synonymous | 12/14 | - | 2 |
| 5-74892282-G-T | c.1764G>T | p.V588= | Synonymous | 12/14 | - | 2 |
| 5-74892287-A-G | c.1769A>G | p.K590R | Missense | 12/14 | - | 2 |
| 5-74892292-AG-CC | c.1774_1775delinsCC | p.S592P | Missense | 12/14 | - | 1 |
| 5-74892293-G-A | c.1775G>A | p.S592N | Missense | 12/14 | - | 1 |
| 5-74892293-G-T | c.1775G>T | p.S592I | Missense | 12/14 | - | 1 |
| 5-74892292-A-C | c.1774A>C | p.S592R | Missense | 12/14 | - | 1 |
| 5-74892294-T-A | c.1776T>A | p.S592R | Missense | 12/14 | - | 1 |
| 5-74892294-T-G | c.1776T>G | p.S592R | Missense | 12/14 | - | 1 |
| 5-74892301-A-G | c.1783A>G | p.T595A | Missense | 12/14 | - | 2 |
| 5-74892302-C-T | c.1784C>T | p.T595I | Missense | 12/14 | - | 1 |
| 5-74892310-C-G | c.1792C>G | p.P598A | Missense | 12/14 | - | 1 |
| 5-74892310-C-T | c.1792C>T | p.P598S | Missense | 12/14 | - | 1 |
| 5-74892317-A-C | c.1799A>C | p.Q600P | Missense | 12/14 | - | 1 |
| 5-74892318-A-C | c.1800A>C | p.Q600H | Missense | 12/14 | - | 1 |
| 5-74892318-A-T | c.1800A>T | p.Q600H | Missense | 12/14 | - | 1 |
| 5-74892327-G-A | c.1809G>A | p.K603= | Synonymous | 12/14 | - | 1 |
| 5-74892330-G-A | c.1812G>A | p.K604= | Synonymous | 12/14 | - | 1 |
| 5-74892324-AAAG-A | c.1814_1816del | p.K605del | InFrameDeletion | 12/14 | - | 2 |
| 5-74892336-G-A | c.1818G>A | p.M606I | Missense | 12/14 | - | 1 |
| 5-74892336-G-C | c.1818G>C | p.M606I | Missense | 12/14 | - | 1 |
| 5-74892336-G-T | c.1818G>T | p.M606I | Missense | 12/14 | - | 1 |
| 5-74892343-A-T | c.1825A>T | p.N609Y | Missense | 12/14 | - | 1 |
| 5-74892346-T-C | c.1828T>C | p.L610= | Synonymous | 12/14 | - | 1 |
| 5-74892346-T-G | c.1828T>G | p.L610V | Missense | 12/14 | - | 3 |
| 5-74892348-G-A | c.1830G>A | p.L610= | Synonymous | 12/14 | - | 1 |
| 5-74892350-A-G | c.1832A>G | p.E611G | Missense | 12/14 | - | 1 |
| 5-74892352-A-G | c.1834A>G | p.I612V | Missense | 12/14 | - | 5 |
| 5-74892355-T-A | c.1837T>A | p.S613T | Missense | 12/14 | - | 1 |
| 5-74892356-C-A | c.1838C>A | p.S613* | Nonsense | 12/14 | - | 1 |
| 5-74892358-G-C | c.1840G>C | p.E614Q | Missense | 12/14 | - | 1 |
| 5-74892359-A-C | c.1841A>C | p.E614A | Missense | 12/14 | - | 1 |
| 5-74892360-G-A | c.1842G>A | p.E614= | Synonymous | 12/14 | - | 2 |
| 5-74892360-G-C | c.1842G>C | p.E614D | Missense | 12/14 | - | 2 |
| 5-74892360-G-T | c.1842G>T | p.E614D | Missense | 12/14 | - | 2 |
| 5-74892363-T-A | c.1845T>A | p.N615K | Missense | 12/14 | - | 1 |
| 5-74892363-T-C | c.1845T>C | p.N615= | Synonymous | 12/14 | - | 1 |
| 5-74892363-T-G | c.1845T>G | p.N615K | Missense | 12/14 | - | 1 |
| 5-74892378-G-C | c.1860G>C | p.Q620H | Missense | 12/14 | - | 1 |
| 5-74892378-G-T | c.1860G>T | p.Q620H | Missense | 12/14 | - | 1 |
| 5-74892392-C-A | c.1874C>A | p.P625H | Missense | 12/14 | - | 2 |
| 5-74892399-C-T | c.1881C>T | p.C627= | Synonymous | 12/14 | - | 1 |
| 5-74892405-G-C | c.1887G>C | p.R629S | Missense | 12/14 | - | 1 |
| 5-74892405-G-T | c.1887G>T | p.R629S | Missense | 12/14 | - | 1 |
| 5-74892406-G-A | c.1888G>A | p.A630T | Missense | 12/14 | - | 1 |
| 5-74892409-C-T | c.1891C>T | p.Q631* | Nonsense | 12/14 | - | 1 |
| 5-74892416-G-A | c.1898G>A | p.C633Y | Missense | 12/14 | - | 1 |
| 5-74892421-A-G | c.1903A>G | p.S635G | Missense | 12/14 | - | 1 |
| 5-74892422-G-A | c.1904G>A | p.S635N | Missense | 12/14 | - | 1 |
| 5-74892421-A-C | c.1903A>C | p.S635R | Missense | 12/14 | - | 1 |
| 5-74892423-T-A | c.1905T>A | p.S635R | Missense | 12/14 | - | 1 |
| 5-74892423-T-G | c.1905T>G | p.S635R | Missense | 12/14 | - | 1 |
| 5-74892426-G-T | c.1908G>T | p.L636= | Synonymous | 12/14 | - | 1 |
| 5-74892427-G-A | c.1909G>A | p.E637K | Missense | 12/14 | - | 1 |
| 5-74892438-T-A | c.1920T>A | p.N640K | Missense | 12/14 | - | 1 |
| 5-74892457-C-A | c.1939C>A | p.L647I | Missense | 12/14 | - | 1 |
| 5-74892464-G-T | c.1946G>T | p.G649V | Missense | 12/14 | - | 1 |
| 5-74892473-T-A | c.1955T>A | p.I652N | Missense | 12/14 | - | 2 |
| 5-74892478-G-A | c.1960G>A | p.E654K | Missense | 12/14 | - | 1 |
| 5-74892478-G-T | c.1960G>T | p.E654* | Nonsense | 12/14 | - | 1 |
| 5-74892481-A-G | c.1963A>G | p.N655D | Missense | 12/14 | - | 1 |
| 5-74892492-G-A | c.1974G>A | p.M658I | Missense | 12/14 | - | 1 |
| 5-74892492-G-C | c.1974G>C | p.M658I | Missense | 12/14 | - | 1 |
| 5-74892492-G-T | c.1974G>T | p.M658I | Missense | 12/14 | - | 1 |
| 5-74892496-T-C | c.1978T>C | p.S660P | Missense | 12/14 | - | 2 |
| 5-74892497-C-T | c.1979C>T | p.S660L | Missense | 12/14 | - | 3 |
| 5-74892498-G-A | c.1980G>A | p.S660= | Synonymous | 12/14 | - | 3 |
| 5-74892502-T-G | c.1984T>G | p.S662A | Missense | 12/14 | - | 1 |
| 5-74892506-A-C | c.1988A>C | p.H663P | Missense | 12/14 | - | 1 |
| 5-74892506-A-G | c.1988A>G | p.H663R | Missense | 12/14 | - | 1 |
| 5-74892506-CAT-C | c.1988_1989del | p.H663Rfs*7 | Frameshift | 12/14 | - | 1 |
| 5-74892507-T-G | c.1989T>G | p.H663Q | Missense | 12/14 | - | 1 |
| 5-74892514-G-T | c.1996G>T | p.A666S | Missense | 12/14 | - | 1 |
| 5-74892519-C-A | c.2001C>A | p.T667= | Synonymous | 12/14 | - | 1 |
| 5-74892519-C-G | c.2001C>G | p.T667= | Synonymous | 12/14 | - | 1 |
| 5-74892519-C-T | c.2001C>T | p.T667= | Synonymous | 12/14 | - | 1 |
| 5-74892521-A-C | c.2003A>C | p.K668T | Missense | 12/14 | - | 1 |
| 5-74892523-G-A | c.2005G>A | p.V669I | Missense | 12/14 | - | 1 |
| 5-74892527-A-G | c.2009A>G | p.N670S | Missense | 12/14 | - | 2 |
| 5-74892530-A-G | c.2012A>G | p.K671R | Missense | 12/14 | - | 2 |
| 5-74892531-G-A | c.2013G>A | p.K671= | Synonymous | 12/14 | - | 2 |
| 5-74892531-G-C | c.2013G>C | p.K671N | Missense | 12/14 | - | 1 |
| 5-74892531-G-T | c.2013G>T | p.K671N | Missense | 12/14 | - | 1 |
| 5-74892551-C-A | c.2033C>A | p.S678Y | Missense | 12/14 | - | 1 |
| 5-74892551-C-T | c.2033C>T | p.S678F | Missense | 12/14 | - | 4 |
| 5-74892556-C-A | c.2038C>A | p.L680I | Missense | 12/14 | - | 1 |
| 5-74892559-T-C | c.2041T>C | p.C681R | Missense | 12/14 | - | 1 |
| 5-74892568-C-G | c.2050C>G | p.Q684E | Missense | 12/14 | - | 2 |
| 5-74892569-A-G | c.2051A>G | p.Q684R | Missense | 12/14 | - | 1 |
| 5-74892571-G-A | c.2053G>A | p.D685N | Missense | 12/14 | - | 1 |
| 5-74892580-G-A | c.2062G>A | p.A688T | Missense | 12/14 | - | 1 |
| 5-74892593-T-G | c.2075T>G | p.I692S | Missense | 12/14 | - | 1 |
| 5-74892598-G-A | c.2080G>A | p.E694K | Missense | 12/14 | - | 2 |
| 5-74892598-G-C | c.2080G>C | p.E694Q | Missense | 12/14 | - | 2 |
| 5-74892599-A-C | c.2081A>C | p.E694A | Missense | 12/14 | - | 2 |
| 5-74892601-A-G | c.2083A>G | p.I695V | Missense | 12/14 | - | 2 |
| 5-74892605-C-A | c.2087C>A | p.S696Y | Missense | 12/14 | - | 3 |
| 5-74892610-G-C | c.2092G>C | p.V698L | Missense | 12/14 | - | 1 |
| 5-74892610-G-T | c.2092G>T | p.V698L | Missense | 12/14 | - | 1 |
| 5-74892618-T-C | c.2100T>C | p.C700= | Synonymous | 12/14 | - | 1 |
| 5-74892630-A-C | c.2112A>C | p.V704= | Synonymous | 12/14 | - | 2 |
| 5-74892630-A-G | c.2112A>G | p.V704= | Synonymous | 12/14 | - | 3 |
| 5-74892630-A-T | c.2112A>T | p.V704= | Synonymous | 12/14 | - | 2 |
| 5-74892632-A-G | c.2114A>G | p.D705G | Missense | 12/14 | - | 1 |
| 5-74892634-A-G | c.2116A>G | p.T706A | Missense | 12/14 | - | 1 |
| 5-74892634-A-T | c.2116A>T | p.T706S | Missense | 12/14 | - | 1 |
| 5-74892635-C-G | c.2117C>G | p.T706S | Missense | 12/14 | - | 2 |
| 5-74892647-C-T | c.2129C>T | p.S710L | Missense | 12/14 | - | 1 |
| 5-74892664-A-G | c.2146A>G | p.I716V | Missense | 12/14 | - | 1 |
| 5-74892665-T-A | c.2147T>A | p.I716K | Missense | 12/14 | - | 1 |
| 5-74892685-C-T | c.2167C>T | p.H723Y | Missense | 12/14 | - | 3 |
| 5-74892688-A-C | c.2170A>C | p.S724R | Missense | 12/14 | - | 1 |
| 5-74892690-C-A | c.2172C>A | p.S724R | Missense | 12/14 | - | 1 |
| 5-74892690-C-G | c.2172C>G | p.S724R | Missense | 12/14 | - | 2 |
| 5-74892692-A-G | c.2174A>G | p.K725R | Missense | 12/14 | - | 1 |
| 5-74892708-T-C | c.2190T>C | p.S730= | Synonymous | 12/14 | - | 3 |
| 5-74892709-C-T | c.2191C>T | p.L731F | Missense | 12/14 | - | 2 |
| 5-74892710-T-A | c.2192T>A | p.L731H | Missense | 12/14 | - | 3 |
| 5-74892712-C-T | c.2194C>T | p.P732S | Missense | 12/14 | - | 1 |
| 5-74892718-A-T | c.2200A>T | p.K734* | Nonsense | 12/14 | - | 1 |
| 5-74892722-C-A | c.2204C>A | p.S735Y | Missense | 12/14 | - | 1 |
| 5-74892722-C-T | c.2204C>T | p.S735F | Missense | 12/14 | - | 2 |
| 5-74892725-T-G | c.2207T>G | p.F736C | Missense | 12/14 | - | 1 |
| 5-74892732-T-A | c.2214T>A | p.I738= | Synonymous | 12/14 | - | 1 |
| 5-74892732-T-C | c.2214T>C | p.I738= | Synonymous | 12/14 | - | 1 |
| 5-74892736-C-A | c.2218C>A | p.H740N | Missense | 12/14 | - | 1 |
| 5-74892737-A-G | c.2219A>G | p.H740R | Missense | 12/14 | - | 1 |
| 5-74892751-T-A | c.2233T>A | p.S745T | Missense | 12/14 | - | 4 |
| 5-74892751-TC-CT | c.2233_2234delinsCT | p.S745L | Missense | 12/14 | - | 1 |
| 5-74892752-C-A | c.2234C>A | p.S745Y | Missense | 12/14 | - | 4 |
| 5-74892752-C-G | c.2234C>G | p.S745C | Missense | 12/14 | - | 1 |
| 5-74892749-ATTC-A | c.2239_2241del | p.S747del | InFrameDeletion | 12/14 | - | 1 |
| 5-74892757-TC-CT | c.2239_2240delinsCT | p.S747L | Missense | 12/14 | - | 1 |
| 5-74892758-C-G | c.2240C>G | p.S747C | Missense | 12/14 | - | 1 |
| 5-74892758-C-T | c.2240C>T | p.S747F | Missense | 12/14 | - | 3 |
| 5-74892765-T-A | c.2247T>A | p.V749= | Synonymous | 12/14 | - | 1 |
| 5-74892765-T-C | c.2247T>C | p.V749= | Synonymous | 12/14 | - | 1 |
| 5-74892765-T-G | c.2247T>G | p.V749= | Synonymous | 12/14 | - | 1 |
| 5-74892767-C-T | c.2249C>T | p.S750L | Missense | 12/14 | - | 1 |
| 5-74892770-T-C | c.2252T>C | p.L751S | Missense | 12/14 | - | 1 |
| 5-74892777-C-T | c.2259C>T | p.N753= | Synonymous | 12/14 | - | 1 |
| 5-74892778-G-A | c.2260G>A | p.E754K | Missense | 12/14 | - | 7 |
| 5-74892785-T-C | c.2267T>C | p.V756A | Missense | 12/14 | - | 4 |
| 5-74892791-C-T | c.2273C>T | p.S758L | Missense | 12/14 | - | 1 |
| 5-74892805-T-A | c.2287T>A | p.Y763N | Missense | 12/14 | - | 3 |
| 5-74892805-T-C | c.2287T>C | p.Y763H | Missense | 12/14 | - | 2 |
| 5-74892807-C-G | c.2289C>G | p.Y763* | Nonsense | 12/14 | - | 1 |
| 5-74892809-G-A | c.2291G>A | p.R764H | Missense | 12/14 | - | 1 |
| 5-74892809-G-T | c.2291G>T | p.R764L | Missense | 12/14 | - | 2 |
| 5-74892811-C-G | c.2293C>G | p.Q765E | Missense | 12/14 | - | 1 |
| 5-74892828-A-G | c.2310A>G | p.E770= | Synonymous | 12/14 | - | 1 |
| 5-74892833-A-T | c.2315A>T | p.K772I | Missense | 12/14 | - | 1 |
| 5-74892836-CA-TG | c.2318_2319inv | p.T773M | Missense | 12/14 | - | 1 |
| 5-74892837-A-C | c.2319A>C | p.T773= | Synonymous | 12/14 | - | 2 |
| 5-74892837-A-G | c.2319A>G | p.T773= | Synonymous | 12/14 | - | 2 |
| 5-74892837-A-T | c.2319A>T | p.T773= | Synonymous | 12/14 | - | 2 |
| 5-74892839-G-A | c.2321G>A | p.G774D | Missense | 12/14 | - | 1 |
| 5-74892845-CT-AG | c.2327_2328inv | p.A776E | Missense | 12/14 | - | 1 |
| 5-74892851-T-G | c.2333T>G | p.V778G | Missense | 12/14 | - | 1 |
| 5-74892854-G-A | c.2336G>A | p.C779Y | Missense | 12/14 | - | 1 |
| 5-74892855-T-C | c.2337T>C | p.C779= | Synonymous | 12/14 | - | 1 |
| 5-74892859-G-A | c.2341G>A | p.V781I | Missense | 12/14 | - | 1 |
| 5-74892862-T-C | c.2344T>C | p.C782R | Missense | 12/14 | - | 1 |
| 5-74892866-A-T | c.2348A>T | p.N783I | Missense | 12/14 | - | 1 |
| 5-74892871-G-A | c.2353G>A | p.E785K | Missense | 12/14 | - | 1 |
| 5-74892875-A-G | c.2357A>G | p.Q786R | Missense | 12/14 | - | 1 |
| 5-74892901-A-T | c.2383A>T | p.N795Y | Missense | 12/14 | - | 1 |
| 5-74892902-A-G | c.2384A>G | p.N795S | Missense | 12/14 | - | 1 |
| 5-74892912-G-T | c.2394G>T | p.V798= | Synonymous | 12/14 | - | 2 |
| 5-74892916-G-A | c.2398G>A | p.V800I | Missense | 12/14 | - | 1 |
| 5-74892928-A-ATG | c.2410_2411insTG | p.K804Mfs*8 | Frameshift | 12/14 | - | 1 |
| 5-74892932-G-A | c.2414G>A | p.S805N | Missense | 12/14 | - | 1 |
| 5-74892937-A-T | c.2419A>T | p.I807F | Missense | 12/14 | - | 1 |
| 5-74892940-C-G | c.2422C>G | p.Q808E | Missense | 12/14 | - | 1 |
| 5-74892944-A-AG | c.2426_2427insG | p.L810Ifs*5 | Frameshift | 12/14 | - | 1 |
| 5-74892947-T-A | c.2429T>A | p.L810* | Nonsense | 12/14 | - | 1 |
| 5-74892947-T-G | c.2429T>G | p.L810* | Nonsense | 12/14 | - | 1 |
| 5-74892955-G-A | c.2437G>A | p.D813N | Missense | 12/14 | - | 1 |
| 5-74892956-A-T | c.2438A>T | p.D813V | Missense | 12/14 | - | 1 |
| 5-74892957-T-A | c.2439T>A | p.D813E | Missense | 12/14 | - | 1 |
| 5-74892957-T-G | c.2439T>G | p.D813E | Missense | 12/14 | - | 1 |
| 5-74892965-A-C | c.2447A>C | p.N816T | Missense | 12/14 | - | 1 |
| 5-74892967-C-T | c.2449C>T | p.P817S | Missense | 12/14 | - | 1 |
| 5-74892973-A-C | c.2455A>C | p.N819H | Missense | 12/14 | - | 6 |
| 5-74892973-A-G | c.2455A>G | p.N819D | Missense | 12/14 | - | 1 |
| 5-74892974-A-G | c.2456A>G | p.N819S | Missense | 12/14 | - | 1 |
| 5-74892979-C-G | c.2461C>G | p.P821A | Missense | 12/14 | - | 1 |
| 5-74892979-C-T | c.2461C>T | p.P821S | Missense | 12/14 | - | 1 |
| 5-74892982-A-T | c.2464A>T | p.K822* | Nonsense | 12/14 | - | 1 |
| 5-74892989-G-T | c.2471G>T | p.S824I | Missense | 12/14 | - | 5 |
| 5-74892992-C-T | c.2474C>T | p.S825F | Missense | 12/14 | - | 1 |
| 5-74892994-A-G | c.2476A>G | p.R826G | Missense | 12/14 | - | 2 |
| 5-74892995-G-T | c.2477G>T | p.R826I | Missense | 12/14 | - | 1 |
| 5-74893001-C-CA | c.2483_2484insA | p.G829Wfs*2 | SpliceDonorInsertion | 12/14 | - | 1 |
| 5-74893002-T-TTGAACAG | c.2484_2485insTGAACAG | p.G829* | SpliceDonorInsertion | 12/14 | - | 1 |
| 5-74893003-G-T | c.2485G>T | p.G829C | Missense | 12/14 | - | 1 |
| 5-74893574-A-C | c.2488A>C | p.S830R | Missense | 13/14 | - | 1 |
| 5-74893576-C-A | c.2490C>A | p.S830R | Missense | 13/14 | - | 3 |
| 5-74893576-C-G | c.2490C>G | p.S830R | Missense | 13/14 | - | 1 |
| 5-74893581-G-A | c.2495G>A | p.S832N | Missense | 13/14 | - | 7 |
| 5-74893583-GGA-AGC | c.2497_2499delinsAGC | p.G833S | Missense | 13/14 | - | 1 |
| 5-74893590-A-G | c.2504A>G | p.Q835R | Missense | 13/14 | - | 3 |
| 5-74893593-A-C | c.2507A>C | p.K836T | Missense | 13/14 | - | 1 |
| 5-74893595-G-A | c.2509G>A | p.A837T | Missense | 13/14 | - | 1 |
| 5-74893607-A-G | c.2521A>G | p.T841A | Missense | 13/14 | - | 1 |
| 5-74893614-G-T | c.2528G>T | p.R843M | Missense | 13/14 | - | 1 |
| 5-74893763-G-T | c.2533G>T | p.G845* | Nonsense | 14/14 | - | 1 |
| 5-74893764-G-A | c.2534G>A | p.G845E | Missense | 14/14 | - | 1 |
| 5-74893764-G-T | c.2534G>T | p.G845V | Missense | 14/14 | - | 1 |
| 5-74893770-T-C | c.2540T>C | p.M847T | Missense | 14/14 | - | 1 |
| 5-74893773-C-A | c.2543C>A | p.T848K | Missense | 14/14 | - | 4 |
| 5-74893778-T-A | c.2548T>A | p.Y850N | Missense | 14/14 | - | 1 |
| 5-74893785-C-T | c.2555C>T | p.T852I | Missense | 14/14 | - | 1 |
| 5-74893791-A-G | c.2561A>G | p.K854R | Missense | 14/14 | - | 1 |
| 5-74893792-G-A | c.2562G>A | p.K854= | Synonymous | 14/14 | - | 1 |
| 5-74893792-G-T | c.2562G>T | p.K854N | Missense | 14/14 | - | 1 |
| 5-74893794-A-G | c.2564A>G | p.K855R | Missense | 14/14 | - | 1 |
| 5-74893802-C-A | c.2572C>A | p.P858T | Missense | 14/14 | - | 2 |
| 5-74893811-C-A | c.2581C>A | p.P861T | Missense | 14/14 | - | 1 |
| 5-74893813-C-A | c.2583C>A | p.P861= | Synonymous | 14/14 | - | 2 |
| 5-74893813-C-G | c.2583C>G | p.P861= | Synonymous | 14/14 | - | 2 |
| 5-74893813-C-T | c.2583C>T | p.P861= | Synonymous | 14/14 | - | 2 |
| 5-74893814-A-G | c.2584A>G | p.K862E | Missense | 14/14 | - | 1 |
| 5-74893818-A-C | c.2588A>C | p.H863P | Missense | 14/14 | - | 1 |
| 5-74893819-T-A | c.2589T>A | p.H863Q | Missense | 14/14 | - | 1 |
| 5-74893819-T-G | c.2589T>G | p.H863Q | Missense | 14/14 | - | 1 |
| 5-74893826-G-A | c.2596G>A | p.D866N | Missense | 14/14 | - | 2 |
| 5-74893828-T-A | c.2598T>A | p.D866E | Missense | 14/14 | - | 1 |
| 5-74893828-T-G | c.2598T>G | p.D866E | Missense | 14/14 | - | 5 |
| 5-74893830-T-C | c.2600T>C | p.I867T | Missense | 14/14 | - | 1 |
| 5-74893835-T-C | c.2605T>C | p.F869L | Missense | 14/14 | - | 2 |
| 5-74893837-T-G | c.2607T>G | p.F869L | Missense | 14/14 | - | 2 |
| 5-74893831-AT-A | c.2607del | p.F869Lfs*5 | Frameshift | 14/14 | - | 3 |
| 5-74893837-T-A | c.2607T>A | p.F869L | Missense | 14/14 | - | 3 |
| 5-74893840-G-T | c.2610G>T | p.K870N | Missense | 14/14 | - | 1 |