| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-89841084-G-A | c.-422G>A | - | 5_prime_UTR_variant | 1/6 | - | 2 |
| 7-89841084-G-C | c.-422G>C | - | 5_prime_UTR_variant | 1/6 | - | 2 |
| 7-89841084-G-T | c.-422G>T | - | 5_prime_UTR_variant | 1/6 | - | 2 |
| 7-89841307-G-A | c.-199G>A | - | 5_prime_UTR_variant | 1/6 | - | 3 |
| 7-89842630-G-A | c.-147+1271G>A | - | intron_variant | - | 1/5 | 1 |
| 7-89842630-G-T | c.-147+1271G>T | - | intron_variant | - | 1/5 | 1 |
| 7-89843560-G-T | c.-147+2201G>T | - | intron_variant | - | 1/5 | 1 |
| 7-89845903-G-A | c.-48G>A | - | 5_prime_UTR_variant | 2/6 | - | 1 |
| 7-89850285-T-C | c.-33-4079T>C | - | IntronicSNV | - | 2/5 | 1 |
| 7-89851186-T-G | c.-33-3178T>G | - | IntronicSNV | - | 2/5 | 2 |
| 7-89852836-T-A | c.-33-1528T>A | - | IntronicSNV | - | 2/5 | 2 |
| 7-89853149-G-A | c.-33-1215G>A | - | IntronicSNV | - | 2/5 | 1 |
| 7-89854235-C-T | c.-162C>T | - | IntronicSNV | 1/6 | - | 1 |
| 7-89854402-A-G | c.6A>G | p.E2= | Synonymous | 3/6 | - | 1 |
| 7-89854406-A-G | c.10A>G | p.I4V | Missense | 3/6 | - | 1 |
| 7-89854412-A-G | c.16A>G | p.M6V | Missense | 3/6 | - | 1 |
| 7-89854414-G-A | c.18G>A | p.M6I | Missense | 3/6 | - | 3 |
| 7-89854418-G-A | c.22G>A | p.G8R | Missense | 3/6 | - | 1 |
| 7-89854422-G-A | c.26G>A | p.S9N | Missense | 3/6 | - | 1 |
| 7-89854425-C-T | c.29C>T | p.P10L | Missense | 3/6 | - | 1 |
| 7-89854426-T-A | c.30T>A | p.P10= | Synonymous | 3/6 | - | 1 |
| 7-89854426-T-C | c.30T>C | p.P10= | Synonymous | 3/6 | - | 1 |
| 7-89854426-T-G | c.30T>G | p.P10= | Synonymous | 3/6 | - | 1 |
| 7-89854429-G-C | c.33G>C | p.K11N | Missense | 3/6 | - | 1 |
| 7-89854429-G-T | c.33G>T | p.K11N | Missense | 3/6 | - | 1 |
| 7-89854430-A-G | c.34A>G | p.S12G | Missense | 3/6 | - | 1 |
| 7-89854437-G-A | c.41G>A | p.S14N | Missense | 3/6 | - | 1 |
| 7-89854439-G-A | c.43G>A | p.E15K | Missense | 3/6 | - | 2 |
| 7-89854444-T-A | c.48T>A | p.T16= | Synonymous | 3/6 | - | 1 |
| 7-89854444-T-C | c.48T>C | p.T16= | Synonymous | 3/6 | - | 1 |
| 7-89854444-T-G | c.48T>G | p.T16= | Synonymous | 3/6 | - | 1 |
| 7-89854445-T-C | c.49T>C | p.F17L | Missense | 3/6 | - | 1 |
| 7-89854446-T-G | c.50T>G | p.F17C | Missense | 3/6 | - | 37 |
| 7-89854447-T-C | c.51T>C | p.F17= | Synonymous | 3/6 | - | 1 |
| 7-89854448-T-C | c.52T>C | p.L18= | Synonymous | 3/6 | - | 1 |
| 7-89854449-T-A | c.53T>A | p.L18* | Nonsense | 3/6 | - | 1 |
| 7-89854449-T-G | c.53T>G | p.L18* | Nonsense | 3/6 | - | 1 |
| 7-89854450-A-G | c.54A>G | p.L18= | Synonymous | 3/6 | - | 2 |
| 7-89854469-A-G | c.73A>G | p.I25V | Missense | 3/6 | - | 1 |
| 7-89854471-C-CA | c.78dup | p.D27Rfs*25 | Frameshift | 3/6 | - | 1 |
| 7-89854474-A-G | c.78A>G | p.K26= | Synonymous | 3/6 | - | 1 |
| 7-89854475-G-A | c.79G>A | p.D27N | Missense | 3/6 | - | 2 |
| 7-89854481-A-G | c.85A>G | p.R29G | Missense | 3/6 | - | 1 |
| 7-89854482-G-A | c.86G>A | p.R29K | Missense | 3/6 | - | 3 |
| 7-89854483-G-A | c.87G>A | p.R29= | Synonymous | 3/6 | - | 2 |
| 7-89854483-G-C | c.87G>C | p.R29S | Missense | 3/6 | - | 2 |
| 7-89854483-G-T | c.87G>T | p.R29S | Missense | 3/6 | - | 2 |
| 7-89854490-A-G | c.94A>G | p.T32A | Missense | 3/6 | - | 1 |
| 7-89854491-C-A | c.95C>A | p.T32N | Missense | 3/6 | - | 1 |
| 7-89854497-G-T | c.101G>T | p.G34V | Missense | 3/6 | - | 1 |
| 7-89854497-GT-AG | c.101_102delinsAG | p.G34E | Missense | 3/6 | - | 1 |
| 7-89854499-G-A | c.103G>A | p.V35M | Missense | 3/6 | - | 1 |
| 7-89854500-T-A | c.104T>A | p.V35E | Missense | 3/6 | - | 1 |
| 7-89854501-G-A | c.105G>A | p.V35= | Synonymous | 3/6 | - | 2 |
| 7-89854501-G-C | c.105G>C | p.V35= | Synonymous | 3/6 | - | 2 |
| 7-89854501-G-T | c.105G>T | p.V35= | Synonymous | 3/6 | - | 3 |
| 7-89854502-A-G | c.106A>G | p.I36V | Missense | 3/6 | - | 1 |
| 7-89854505-G-A | c.109G>A | p.G37R | Missense | 3/6 | - | 3 |
| 7-89854506-G-A | c.110G>A | p.G37E | Missense | 3/6 | - | 1 |
| 7-89854507-A-C | c.111A>C | p.G37= | Synonymous | 3/6 | - | 1 |
| 7-89854507-A-G | c.111A>G | p.G37= | Synonymous | 3/6 | - | 2 |
| 7-89854507-A-T | c.111A>T | p.G37= | Synonymous | 3/6 | - | 1 |
| 7-89854512-G-A | c.116G>A | p.G39E | Missense | 3/6 | - | 3 |
| 7-89854514-G-T | c.118G>T | p.D40Y | Missense | 3/6 | - | 2 |
| 7-89854520-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 3/6 | - | 1 |
| 7-89854521-C-A | c.125C>A | p.A42D | Missense | 3/6 | - | 1 |
| 7-89854524-A-G | c.128A>G | p.K43R | Missense | 3/6 | - | 3 |
| 7-89854527-C-T | c.131C>T | p.S44F | Missense | 3/6 | - | 3 |
| 7-89854528-C-T | c.132C>T | p.S44= | Synonymous | 3/6 | - | 4 |
| 7-89854532-A-G | c.136A>G | p.T46A | Missense | 3/6 | - | 2 |
| 7-89854538-C-T | c.142C>T | p.R48* | Nonsense | 3/6 | - | 4 |
| 7-89854539-G-A | c.143G>A | p.R48Q | Missense | 3/6 | - | 4 |
| 7-89854542-T-C | c.146T>C | p.L49P | Missense | 3/6 | - | 2 |
| 7-89854543-T-A | c.147T>A | p.L49= | Synonymous | 3/6 | - | 1 |
| 7-89854543-T-C | c.147T>C | p.L49= | Synonymous | 3/6 | - | 1 |
| 7-89854543-T-G | c.147T>G | p.L49= | Synonymous | 3/6 | - | 1 |
| 7-89854552-C-T | c.156C>T | p.C52= | Synonymous | 3/6 | - | 3 |
| 7-89854554-G-A | c.158G>A | p.G53D | Missense | 3/6 | - | 1 |
| 7-89854554-G-T | c.158G>T | p.G53V | Missense | 3/6 | - | 1 |
| 7-89854559-C-T | c.163C>T | p.H55Y | Missense | 3/6 | - | 3 |
| 7-89854564-G-T | c.168G>T | p.V56= | Synonymous | 3/6 | - | 1 |
| 7-89854583-C-T | c.187C>T | p.P63S | Missense | 3/6 | - | 1 |
| 7-89854584-C-T | c.188C>T | p.P63L | Missense | 3/6 | - | 2 |
| 7-89854588-G-C | c.192G>C | p.K64N | Missense | 3/6 | - | 1 |
| 7-89854588-G-T | c.192G>T | p.K64N | Missense | 3/6 | - | 1 |
| 7-89854589-T-C | c.193T>C | p.F65L | Missense | 3/6 | - | 1 |
| 7-89854598-G-A | c.202G>A | p.E68K | Missense | 3/6 | - | 2 |
| 7-89854598-G-T | c.202G>T | p.E68* | Nonsense | 3/6 | - | 1 |
| 7-89854604-T-A | c.208T>A | p.F70I | Missense | 3/6 | - | 1 |
| 7-89854604-T-G | c.208T>G | p.F70V | Missense | 3/6 | - | 1 |
| 7-89854607-C-T | c.211C>T | p.P71S | Missense | 3/6 | - | 1 |
| 7-89854610-C-A | c.214C>A | p.H72N | Missense | 3/6 | - | 1 |
| 7-89854613-G-A | c.217G>A | p.V73M | Missense | 3/6 | - | 2 |
| 7-89854615-G-A | c.219G>A | p.V73= | Synonymous | 3/6 | - | 1 |
| 7-89854620-A-C | c.224A>C | p.D75A | Missense | 3/6 | - | 1 |
| 7-89854622-G-A | c.226G>A | p.V76I | Missense | 3/6 | - | 1 |
| 7-89854622-G-T | c.226G>T | p.V76F | Missense | 3/6 | - | 2 |
| 7-89854628-C-T | c.232C>T | p.H78Y | Missense | 3/6 | - | 3 |
| 7-89854629-A-C | c.233A>C | p.H78P | Missense | 3/6 | - | 2 |
| 7-89854630-T-A | c.234T>A | p.H78Q | Missense | 3/6 | - | 1 |
| 7-89854630-T-G | c.234T>G | p.H78Q | Missense | 3/6 | - | 1 |
| 7-89854632-A-G | c.236A>G | p.H79R | Missense | 3/6 | - | 1 |
| 7-89854634-G-A | c.238G>A | p.E80K | Missense | 3/6 | - | 1 |
| 7-89854645-C-T | c.249C>T | p.L83= | Synonymous | 3/6 | - | 1 |
| 7-89854649-A-G | c.253A>G | p.K85E | Missense | 3/6 | - | 1 |
| 7-89854653-ACAAAT-A | c.257_261del | p.T86Nfs*24 | Frameshift | 3/6 | - | 2 |
| 7-89854653-C-T | c.257C>T | p.T86I | Missense | 3/6 | - | 1 |
| 7-89854657-T-A | c.261T>A | p.N87K | Missense | 3/6 | - | 1 |
| 7-89854657-T-G | c.261T>G | p.N87K | Missense | 3/6 | - | 1 |
| 7-89854661-A-G | c.265A>G | p.I89V | Missense | 3/6 | - | 1 |
| 7-89854664-TTT-GAG | c.268_270delinsGAG | p.F90E | Missense | 3/6 | - | 1 |
| 7-89854667-G-T | c.271G>T | p.V91F | Missense | 3/6 | - | 1 |
| 7-89854668-T-C | c.272T>C | p.V91A | Missense | 3/6 | - | 1 |
| 7-89854669-T-A | c.273T>A | p.V91= | Synonymous | 3/6 | - | 1 |
| 7-89854669-T-C | c.273T>C | p.V91= | Synonymous | 3/6 | - | 1 |
| 7-89854669-T-G | c.273T>G | p.V91= | Synonymous | 3/6 | - | 1 |
| 7-89854672-T-A | c.276T>A | p.A92= | Synonymous | 3/6 | - | 1 |
| 7-89854672-T-C | c.276T>C | p.A92= | Synonymous | 3/6 | - | 1 |
| 7-89854672-T-G | c.276T>G | p.A92= | Synonymous | 3/6 | - | 1 |
| 7-89854673-A-G | c.277A>G | p.I93V | Missense | 3/6 | - | 1 |
| 7-89854678-C-G | c.282C>G | p.H94Q | Missense | 3/6 | - | 1 |
| 7-89854678-C-T | c.282C>T | p.H94= | Synonymous | 3/6 | - | 1 |
| 7-89854679-AG-CA | c.283_284delinsCA | p.R95Q | Missense | 3/6 | - | 1 |
| 7-89854682-GAA-ATG | c.286_288delinsATG | p.E96M | Missense | 3/6 | - | 1 |
| 7-89854682-G-T | c.286G>T | p.E96* | Nonsense | 3/6 | - | 1 |
| 7-89854690-T-C | c.294T>C | p.Y98= | Synonymous | 3/6 | - | 1 |
| 7-89854692-C-A | c.296C>A | p.T99N | Missense | 3/6 | - | 2 |
| 7-89854693-C-T | c.297C>T | p.T99= | Synonymous | 3/6 | - | 1 |
| 7-89854695-C-T | c.299C>T | p.S100F | Missense | 3/6 | - | 1 |
| 7-89854697-C-T | c.301C>T | p.L101= | Synonymous | 3/6 | - | 4 |
| 7-89854699-G-A | c.303G>A | p.L101= | Synonymous | 3/6 | - | 1 |
| 7-89854699-G-C | c.303G>C | p.L101= | Synonymous | 3/6 | - | 2 |
| 7-89854699-G-T | c.303G>T | p.L101= | Synonymous | 3/6 | - | 1 |
| 7-89854701-G-A | c.305G>A | p.W102* | Nonsense | 3/6 | - | 2 |
| 7-89854702-G-A | c.306G>A | p.W102* | Nonsense | 3/6 | - | 3 |
| 7-89854719-T-C | c.323T>C | p.L108P | Missense | 3/6 | - | 1 |
| 7-89854719-TT-AA | c.323_324inv | p.L108Q | Missense | 3/6 | - | 1 |
| 7-89854721-G-C | c.325G>C | p.V109L | Missense | 3/6 | - | 1 |
| 7-89854724-G-A | c.328G>A | p.G110S | Missense | 3/6 | - | 1 |
| 7-89854732-C-A | c.336C>A | p.I112= | Synonymous | 3/6 | - | 1 |
| 7-89854732-C-T | c.336C>T | p.I112= | Synonymous | 3/6 | - | 2 |
| 7-89854738-T-A | c.342T>A | p.I114= | Synonymous | 3/6 | - | 1 |
| 7-89854738-T-C | c.342T>C | p.I114= | Synonymous | 3/6 | - | 1 |
| 7-89854739-G-T | c.343G>T | p.D115Y | Missense | 3/6 | - | 1 |
| 7-89854743-TG-AC | c.347_348delinsAC | p.V116D | Missense | 3/6 | - | 1 |
| 7-89854754-A-G | c.358A>G | p.M120V | Missense | 3/6 | - | 1 |
| 7-89854763-A-G | c.367A>G | p.N123D | Missense | 3/6 | - | 1 |
| 7-89854771-C-T | c.375C>T | p.Y125= | Synonymous | 3/6 | - | 1 |
| 7-89854776-A-G | c.380A>G | p.E127G | Missense | 3/6 | - | 3 |
| 7-89854779-C-T | c.383C>T | p.S128F | Missense | 3/6 | - | 2 |
| 7-89854782-A-G | c.386A>G | p.N129S | Missense | 3/6 | - | 1 |
| 7-89854785-C-T | c.389C>T | p.A130V | Missense | 3/6 | - | 1 |
| 7-89854787-G-A | c.391G>A | p.E131K | Missense | 3/6 | - | 2 |
| 7-89854793-T-G | c.397T>G | p.L133V | Missense | 3/6 | - | 1 |
| 7-89854796-G-A | c.400G>A | p.A134T | Missense | 3/6 | - | 1 |
| 7-89854806-T-C | c.410T>C | p.F137S | Missense | 3/6 | - | 2 |
| 7-89854811-G-C | c.415G>C | p.D139H | Missense | 3/6 | - | 1 |
| 7-89854811-G-T | c.415G>T | p.D139Y | Missense | 3/6 | - | 2 |
| 7-89854813-T-A | c.417T>A | p.D139E | Missense | 3/6 | - | 1 |
| 7-89854813-T-G | c.417T>G | p.D139E | Missense | 3/6 | - | 1 |
| 7-89854819-G-C | c.423G>C | p.L141F | Missense | 3/6 | - | 1 |
| 7-89854819-G-T | c.423G>T | p.L141F | Missense | 3/6 | - | 2 |
| 7-89854823-G-T | c.427G>T | p.V143F | Missense | 3/6 | - | 1 |
| 7-89854824-T-C | c.428T>C | p.V143A | Missense | 3/6 | - | 1 |
| 7-89854825-C-T | c.429C>T | p.V143= | Synonymous | 3/6 | - | 1 |
| 7-89854829-G-A | c.433G>A | p.G145R | Missense | 3/6 | - | 2 |
| 7-89854832-T-C | c.436T>C | p.F146L | Missense | 3/6 | - | 4 |
| 7-89854845-C-T | c.449C>T | p.S150L | Missense | 3/6 | - | 2 |
| 7-89854850-T-A | c.454T>A | p.W152R | Missense | 3/6 | - | 3 |
| 7-89854850-T-C | c.454T>C | p.W152R | Missense | 3/6 | - | 1 |
| 7-89854854-C-A | c.458C>A | p.A153E | Missense | 3/6 | - | 1 |
| 7-89854855-A-C | c.459A>C | p.A153= | Synonymous | 3/6 | - | 1 |
| 7-89854855-A-G | c.459A>G | p.A153= | Synonymous | 3/6 | - | 1 |
| 7-89854855-A-T | c.459A>T | p.A153= | Synonymous | 3/6 | - | 1 |
| 7-89854859-C-T | c.463C>T | p.Q155* | Nonsense | 3/6 | - | 3 |
| 7-89854862-T-A | c.466T>A | p.L156I | Missense | 3/6 | - | 1 |
| 7-89854873-G-C | c.477G>C | p.K159N | Missense | 3/6 | - | 1 |
| 7-89854873-G-T | c.477G>T | p.K159N | Missense | 3/6 | - | 1 |
| 7-89854874-G-A | c.478G>A | p.D160N | Missense | 3/6 | - | 3 |
| 7-89854884-G-A | c.488G>A | p.R163Q | Missense | 3/6 | - | 2 |
| 7-89854887-A-G | c.491A>G | p.Q164R | Missense | 3/6 | - | 1 |
| 7-89854889-G-A | c.492+1G>A | - | IntronicSNV | - | 3/5 | 1 |
| 7-89854894-T-C | c.492+6T>C | - | IntronicSNV | - | 3/5 | 1 |
| 7-89856288-T-G | c.496T>G | p.Y166D | Missense | 4/6 | - | 1 |
| 7-89856305-T-C | c.513T>C | p.N171= | Synonymous | 4/6 | - | 1 |
| 7-89856306-A-T | c.514A>T | p.I172F | Missense | 4/6 | - | 1 |
| 7-89856313-C-T | c.521C>T | p.A174V | Missense | 4/6 | - | 8 |
| 7-89856314-G-A | c.522G>A | p.A174= | Synonymous | 4/6 | - | 4 |
| 7-89856315-C-G | c.523C>G | p.R175G | Missense | 4/6 | - | 1 |
| 7-89856315-C-T | c.523C>T | p.R175* | Nonsense | 4/6 | - | 6 |
| 7-89856316-GA-AT | c.524_525delinsAT | p.R175H | Missense | 4/6 | - | 1 |
| 7-89856331-A-C | c.539A>C | p.E180A | Missense | 4/6 | - | 1 |
| 7-89856338-C-A | c.546C>A | p.A182= | Synonymous | 4/6 | - | 1 |
| 7-89856338-C-G | c.546C>G | p.A182= | Synonymous | 4/6 | - | 1 |
| 7-89856338-C-T | c.546C>T | p.A182= | Synonymous | 4/6 | - | 1 |
| 7-89856339-C-A | c.547C>A | p.R183S | Missense | 4/6 | - | 1 |
| 7-89856339-C-T | c.547C>T | p.R183C | Missense | 4/6 | - | 1 |
| 7-89856341-C-A | c.549C>A | p.R183= | Synonymous | 4/6 | - | 1 |
| 7-89856342-C-G | c.550C>G | p.Q184E | Missense | 4/6 | - | 1 |
| 7-89856343-A-G | c.551A>G | p.Q184R | Missense | 4/6 | - | 1 |
| 7-89856347-G-T | c.555G>T | p.L185F | Missense | 4/6 | - | 2 |
| 7-89856353-C-T | c.561C>T | p.F187= | Synonymous | 4/6 | - | 3 |
| 7-89856357-C-T | c.565C>T | p.P189S | Missense | 4/6 | - | 2 |
| 7-89856360-A-T | c.568A>T | p.I190F | Missense | 4/6 | - | 2 |
| 7-89856363-G-A | c.571G>A | p.D191N | Missense | 4/6 | - | 3 |
| 7-89856363-G-C | c.571G>C | p.D191H | Missense | 4/6 | - | 1 |
| 7-89856370-G-A | c.578G>A | p.G193E | Missense | 4/6 | - | 2 |
| 7-89856373-C-T | c.581C>T | p.S194F | Missense | 4/6 | - | 2 |
| 7-89856375-T-C | c.583T>C | p.L195= | Synonymous | 4/6 | - | 1 |
| 7-89856379-C-T | c.587C>T | p.S196L | Missense | 4/6 | - | 1 |
| 7-89856384-G-A | c.592G>A | p.A198T | Missense | 4/6 | - | 3 |
| 7-89856396-G-A | c.604G>A | p.E202K | Missense | 4/6 | - | 1 |
| 7-89856399-A-C | c.607A>C | p.N203H | Missense | 4/6 | - | 1 |
| 7-89856401-T-A | c.609T>A | p.N203K | Missense | 4/6 | - | 1 |
| 7-89856401-T-G | c.609T>G | p.N203K | Missense | 4/6 | - | 1 |
| 7-89856411-CGA-TGT | c.619_621delinsTGT | p.R207C | Missense | 4/6 | - | 1 |
| 7-89856413-A-G | c.621A>G | p.R207= | Synonymous | 4/6 | - | 1 |
| 7-89856412-G-A | c.620G>A | p.R207Q | Missense | 4/6 | - | 2 |
| 7-89856412-G-T | c.620G>T | p.R207L | Missense | 4/6 | - | 3 |
| 7-89856414-C-T | c.622C>T | p.L208F | Missense | 4/6 | - | 1 |
| 7-89856415-T-A | c.623T>A | p.L208H | Missense | 4/6 | - | 6 |
| 7-89856416-C-T | c.624C>T | p.L208= | Synonymous | 4/6 | - | 1 |
| 7-89856423-C-T | c.631C>T | p.L211F | Missense | 4/6 | - | 2 |
| 7-89856433-G-A | c.641G>A | p.G214E | Missense | 4/6 | - | 13 |
| 7-89856433-G-T | c.641G>T | p.G214V | Missense | 4/6 | - | 2 |
| 7-89856435-C-T | c.643C>T | p.P215S | Missense | 4/6 | - | 3 |
| 7-89856443-G-C | c.651G>C | p.V217= | Synonymous | 4/6 | - | 2 |
| 7-89856450-A-G | c.658A>G | p.I220V | Missense | 4/6 | - | 1 |
| 7-89856471-T-A | c.679T>A | p.F227I | Missense | 4/6 | - | 2 |
| 7-89856464-A-AT | c.680dup | p.L228Pfs*14 | Frameshift | 4/6 | - | 4 |
| 7-89856464-AT-A | c.680del | p.F227Sfs*9 | Frameshift | 4/6 | - | 2 |
| 7-89856472-T-C | c.680T>C | p.F227S | Missense | 4/6 | - | 2 |
| 7-89856478-A-G | c.686A>G | p.Y229C | Missense | 4/6 | - | 1 |
| 7-89856481-C-T | c.689C>T | p.S230F | Missense | 4/6 | - | 2 |
| 7-89856485-T-C | c.693T>C | p.F231= | Synonymous | 4/6 | - | 2 |
| 7-89856489-AGA-TGG | c.697_699delinsTGG | p.R233W | Missense | 4/6 | - | 1 |
| 7-89856492-G-T | c.700G>T | p.D234Y | Missense | 4/6 | - | 2 |
| 7-89856493-A-C | c.701A>C | p.D234A | Missense | 4/6 | - | 1 |
| 7-89856495-G-A | c.703G>A | p.V235M | Missense | 4/6 | - | 2 |
| 7-89856498-ATT-TAA | c.706_708delinsTAA | p.I236* | Nonsense | 4/6 | - | 1 |
| 7-89856503-T-G | c.711T>G | p.H237Q | Missense | 4/6 | - | 1 |
| 7-89856505-C-T | c.713C>T | p.P238L | Missense | 4/6 | - | 1 |
| 7-89856514-G-A | c.722G>A | p.R241K | Missense | 4/6 | - | 1 |
| 7-89856515-A-C | c.723A>C | p.R241S | Missense | 4/6 | - | 1 |
| 7-89856515-A-T | c.723A>T | p.R241S | Missense | 4/6 | - | 1 |
| 7-89856516-A-T | c.724A>T | p.N242Y | Missense | 4/6 | - | 1 |
| 7-89856519-C-A | c.727C>A | p.Q243K | Missense | 4/6 | - | 1 |
| 7-89856523-A-G | c.731A>G | p.Q244R | Missense | 4/6 | - | 1 |
| 7-89856524-G-A | c.732G>A | p.Q244= | Synonymous | 4/6 | - | 2 |
| 7-89856524-G-C | c.732G>C | p.Q244H | Missense | 4/6 | - | 1 |
| 7-89856540-A-C | c.748A>C | p.I250L | Missense | 4/6 | - | 2 |
| 7-89856543-C-T | c.751C>T | p.P251S | Missense | 4/6 | - | 6 |
| 7-89856544-C-T | c.752C>T | p.P251L | Missense | 4/6 | - | 2 |
| 7-89856545-T-A | c.753T>A | p.P251= | Synonymous | 4/6 | - | 1 |
| 7-89856545-T-C | c.753T>C | p.P251= | Synonymous | 4/6 | - | 1 |
| 7-89856545-T-G | c.753T>G | p.P251= | Synonymous | 4/6 | - | 1 |
| 7-89856546-A-G | c.754A>G | p.I252V | Missense | 4/6 | - | 3 |
| 7-89856547-T-C | c.755T>C | p.I252T | Missense | 4/6 | - | 1 |
| 7-89856553-T-C | c.761T>C | p.I254T | Missense | 4/6 | - | 2 |
| 7-89856564-A-T | c.772A>T | p.T258S | Missense | 4/6 | - | 4 |
| 7-89856565-C-T | c.773C>T | p.T258I | Missense | 4/6 | - | 2 |
| 7-89856572-T-A | c.780T>A | p.P260= | Synonymous | 4/6 | - | 1 |
| 7-89856572-T-C | c.780T>C | p.P260= | Synonymous | 4/6 | - | 1 |
| 7-89856572-T-G | c.780T>G | p.P260= | Synonymous | 4/6 | - | 1 |
| 7-89856575-A-G | c.783A>G | p.I261M | Missense | 4/6 | - | 1 |
| 7-89856590-G-T | c.798G>T | p.L266F | Missense | 4/6 | - | 1 |
| 7-89856593-C-A | c.801C>A | p.L267= | Synonymous | 4/6 | - | 1 |
| 7-89856593-C-G | c.801C>G | p.L267= | Synonymous | 4/6 | - | 1 |
| 7-89856593-C-T | c.801C>T | p.L267= | Synonymous | 4/6 | - | 1 |
| 7-89856596-C-A | c.804C>A | p.S268= | Synonymous | 4/6 | - | 2 |
| 7-89856596-C-G | c.804C>G | p.S268= | Synonymous | 4/6 | - | 1 |
| 7-89856596-C-T | c.804C>T | p.S268= | Synonymous | 4/6 | - | 2 |
| 7-89856608-C-A | c.816C>A | p.L272= | Synonymous | 4/6 | - | 1 |
| 7-89856608-C-G | c.816C>G | p.L272= | Synonymous | 4/6 | - | 1 |
| 7-89856608-C-T | c.816C>T | p.L272= | Synonymous | 4/6 | - | 17 |
| 7-89856609-G-A | c.817G>A | p.A273T | Missense | 4/6 | - | 1 |
| 7-89856612-G-A | c.820G>A | p.G274S | Missense | 4/6 | - | 2 |
| 7-89856612-G-T | c.820G>T | p.G274C | Missense | 4/6 | - | 1 |
| 7-89856615-C-T | c.823C>T | p.L275F | Missense | 4/6 | - | 1 |
| 7-89856621-G-T | c.829G>T | p.A277S | Missense | 4/6 | - | 1 |
| 7-89856641-T-C | c.849T>C | p.Y283= | Synonymous | 4/6 | - | 1 |
| 7-89856643-A-G | c.851A>G | p.Y284C | Missense | 4/6 | - | 12 |
| 7-89856644-C-T | c.852C>T | p.Y284= | Synonymous | 4/6 | - | 8 |
| 7-89856645-G-A | c.853G>A | p.G285S | Missense | 4/6 | - | 1 |
| 7-89856646-G-A | c.854G>A | p.G285D | Missense | 4/6 | - | 3 |
| 7-89856653-G-A | c.861G>A | p.K287= | Synonymous | 4/6 | - | 1 |
| 7-89856655-A-G | c.863A>G | p.Y288C | Missense | 4/6 | - | 1 |
| 7-89856657-A-T | c.865A>T | p.R289W | Missense | 4/6 | - | 2 |
| 7-89856659-G-A | c.867G>A | p.R289= | Synonymous | 4/6 | - | 2 |
| 7-89856660-A-G | c.868A>G | p.R290G | Missense | 4/6 | - | 1 |
| 7-89856669-C-T | c.877C>T | p.P293S | Missense | 4/6 | - | 4 |
| 7-89856670-C-T | c.878C>T | p.P293L | Missense | 4/6 | - | 1 |
| 7-89856673-G-C | c.881G>C | p.W294S | Missense | 4/6 | - | 2 |
| 7-89856692-G-A | c.900G>A | p.Q300= | Synonymous | 4/6 | - | 1 |
| 7-89856696-AG-CA | c.904_905delinsCA | p.R302Q | Missense | 4/6 | - | 1 |
| 7-89856697-G-A | c.905G>A | p.R302K | Missense | 4/6 | - | 1 |
| 7-89856699-A-C | c.907A>C | p.K303Q | Missense | 4/6 | - | 1 |
| 7-89856708-G-T | c.916G>T | p.G306* | Nonsense | 4/6 | - | 1 |
| 7-89856709-G-A | c.917G>A | p.G306E | Missense | 4/6 | - | 2 |
| 7-89856712-T-C | c.920T>C | p.L307S | Missense | 4/6 | - | 1 |
| 7-89856723-T-G | c.931T>G | p.F311V | Missense | 4/6 | - | 1 |
| 7-89856728-C-T | c.936C>T | p.F312= | Synonymous | 4/6 | - | 4 |
| 7-89856729-G-A | c.937G>A | p.A313T | Missense | 4/6 | - | 1 |
| 7-89856730-C-T | c.938C>T | p.A313V | Missense | 4/6 | - | 1 |
| 7-89856734-G-A | c.942G>A | p.M314I | Missense | 4/6 | - | 3 |
| 7-89856734-G-C | c.942G>C | p.M314I | Missense | 4/6 | - | 3 |
| 7-89856734-G-T | c.942G>T | p.M314I | Missense | 4/6 | - | 3 |
| 7-89856735-G-A | c.943G>A | p.V315I | Missense | 4/6 | - | 2 |
| 7-89856739-A-T | c.947A>T | p.H316L | Missense | 4/6 | - | 1 |
| 7-89856744-G-A | c.952G>A | p.A318T | Missense | 4/6 | - | 1 |
| 7-89856755-C-A | c.963C>A | p.L321= | Synonymous | 4/6 | - | 1 |
| 7-89856755-C-G | c.963C>G | p.L321= | Synonymous | 4/6 | - | 1 |
| 7-89856755-C-T | c.963C>T | p.L321= | Synonymous | 4/6 | - | 2 |
| 7-89856758-CT-C | c.968del | p.L323Yfs*3 | Frameshift | 4/6 | - | 1 |
| 7-89856762-C-T | c.970C>T | p.P324S | Missense | 4/6 | - | 1 |
| 7-89856763-C-G | c.971C>G | p.P324R | Missense | 4/6 | - | 1 |
| 7-89856767-G-A | c.975G>A | p.M325I | Missense | 4/6 | - | 2 |
| 7-89856767-G-C | c.975G>C | p.M325I | Missense | 4/6 | - | 3 |
| 7-89856767-G-T | c.975G>T | p.M325I | Missense | 4/6 | - | 2 |
| 7-89856774-T-C | c.982T>C | p.S328P | Missense | 4/6 | - | 1 |
| 7-89856777-G-C | c.985G>C | p.E329Q | Missense | 4/6 | - | 1 |
| 7-89856779-G-A | c.987G>A | p.E329= | Synonymous | 4/6 | - | 1 |
| 7-89856779-G-C | c.987G>C | p.E329D | Missense | 4/6 | - | 1 |
| 7-89856779-G-T | c.987G>T | p.E329D | Missense | 4/6 | - | 1 |
| 7-89856789-T-C | c.997T>C | p.F333L | Missense | 4/6 | - | 1 |
| 7-89856791-T-A | c.999T>A | p.F333L | Missense | 4/6 | - | 1 |
| 7-89856791-T-G | c.999T>G | p.F333L | Missense | 4/6 | - | 1 |
| 7-89856794-C-A | c.1002C>A | p.L334= | Synonymous | 4/6 | - | 1 |
| 7-89856794-C-G | c.1002C>G | p.L334= | Synonymous | 4/6 | - | 1 |
| 7-89856794-C-T | c.1002C>T | p.L334= | Synonymous | 4/6 | - | 2 |
| 7-89856796-A-G | c.1004A>G | p.N335S | Missense | 4/6 | - | 1 |
| 7-89856807-C-T | c.1015C>T | p.Q339* | Nonsense | 4/6 | - | 2 |
| 7-89856809-G-A | c.1017G>A | p.Q339= | Synonymous | 4/6 | - | 2 |
| 7-89856809-G-C | c.1017G>C | p.Q339H | Missense | 4/6 | - | 1 |
| 7-89856810-C-T | c.1018C>T | p.Q340* | Nonsense | 4/6 | - | 2 |
| 7-89857405-TA-T | c.1020+604del | - | IntronicDeletion | - | 4/5 | 1 |
| 7-89857832-G-A | c.1020+1020G>A | - | IntronicSNV | - | 4/5 | 2 |
| 7-89858913-T-A | c.1021-273T>A | - | IntronicSNV | - | 4/5 | 2 |
| 7-89859186-GTT-ATG | c.1021_1023delinsATG | p.V341M | Missense | 5/6 | - | 1 |
| 7-89859192-G-A | c.1027G>A | p.A343T | Missense | 5/6 | - | 2 |
| 7-89859195-A-G | c.1030A>G | p.N344D | Missense | 5/6 | - | 1 |
| 7-89859196-A-G | c.1031A>G | p.N344S | Missense | 5/6 | - | 1 |
| 7-89859199-T-C | c.1034T>C | p.I345T | Missense | 5/6 | - | 1 |
| 7-89859199-T-G | c.1034T>G | p.I345S | Missense | 5/6 | - | 1 |
| 7-89859212-G-A | c.1047G>A | p.W349* | Nonsense | 5/6 | - | 2 |
| 7-89859212-G-T | c.1047G>T | p.W349C | Missense | 5/6 | - | 1 |
| 7-89859216-G-A | c.1051G>A | p.E351K | Missense | 5/6 | - | 4 |
| 7-89859231-AGA-TGG | c.1066_1068delinsTGG | p.R356W | Missense | 5/6 | - | 1 |
| 7-89859232-G-A | c.1067G>A | p.R356K | Missense | 5/6 | - | 1 |
| 7-89859232-G-T | c.1067G>T | p.R356I | Missense | 5/6 | - | 1 |
| 7-89859237-G-A | c.1072G>A | p.E358K | Missense | 5/6 | - | 1 |
| 7-89859238-A-G | c.1073A>G | p.E358G | Missense | 5/6 | - | 2 |
| 7-89859239-A-C | c.1074A>C | p.E358D | Missense | 5/6 | - | 1 |
| 7-89859239-A-T | c.1074A>T | p.E358D | Missense | 5/6 | - | 1 |
| 7-89859245-T-A | c.1080T>A | p.Y360* | Nonsense | 5/6 | - | 1 |
| 7-89859245-T-G | c.1080T>G | p.Y360* | Nonsense | 5/6 | - | 2 |
| 7-89859249-T-C | c.1084T>C | p.S362P | Missense | 5/6 | - | 1 |
| 7-89859250-C-T | c.1085C>T | p.S362F | Missense | 5/6 | - | 1 |
| 7-89859251-C-A | c.1086C>A | p.S362= | Synonymous | 5/6 | - | 2 |
| 7-89859251-C-G | c.1086C>G | p.S362= | Synonymous | 5/6 | - | 2 |
| 7-89859251-C-T | c.1086C>T | p.S362= | Synonymous | 5/6 | - | 2 |
| 7-89859252-T-A | c.1087T>A | p.F363I | Missense | 5/6 | - | 3 |
| 7-89859271-G-A | c.1106G>A | p.G369D | Missense | 5/6 | - | 3 |
| 7-89859276-C-T | c.1111C>T | p.L371F | Missense | 5/6 | - | 1 |
| 7-89859282-C-T | c.1117C>T | p.L373F | Missense | 5/6 | - | 4 |
| 7-89859284-C-T | c.1119C>T | p.L373= | Synonymous | 5/6 | - | 1 |
| 7-89859288-G-T | c.1123G>T | p.A375S | Missense | 5/6 | - | 1 |
| 7-89859289-C-A | c.1124C>A | p.A375E | Missense | 5/6 | - | 1 |
| 7-89859293-C-A | c.1128C>A | p.V376= | Synonymous | 5/6 | - | 1 |
| 7-89859293-C-G | c.1128C>G | p.V376= | Synonymous | 5/6 | - | 1 |
| 7-89859293-C-T | c.1128C>T | p.V376= | Synonymous | 5/6 | - | 1 |
| 7-89859298-C-A | c.1133C>A | p.S378Y | Missense | 5/6 | - | 1 |
| 7-89859298-C-T | c.1133C>T | p.S378F | Missense | 5/6 | - | 1 |
| 7-89859299-T-A | c.1134T>A | p.S378= | Synonymous | 5/6 | - | 1 |
| 7-89859299-T-C | c.1134T>C | p.S378= | Synonymous | 5/6 | - | 2 |
| 7-89859299-T-G | c.1134T>G | p.S378= | Synonymous | 5/6 | - | 1 |
| 7-89859300-A-G | c.1135A>G | p.I379V | Missense | 5/6 | - | 3 |
| 7-89859300-A-T | c.1135A>T | p.I379F | Missense | 5/6 | - | 1 |
| 7-89859302-C-A | c.1137C>A | p.I379= | Synonymous | 5/6 | - | 1 |
| 7-89859302-C-T | c.1137C>T | p.I379= | Synonymous | 5/6 | - | 3 |
| 7-89859303-C-T | c.1138C>T | p.P380S | Missense | 5/6 | - | 2 |
| 7-89859307-C-T | c.1142C>T | p.S381L | Missense | 5/6 | - | 3 |
| 7-89859319-C-T | c.1154C>T | p.A385V | Missense | 5/6 | - | 1 |
| 7-89859319-GC-G | c.1154del | p.A385Vfs*2 | Frameshift | 5/6 | - | 1 |
| 7-89859320-T-A | c.1155T>A | p.A385= | Synonymous | 5/6 | - | 1 |
| 7-89859322-T-C | c.1157T>C | p.L386S | Missense | 5/6 | - | 4 |
| 7-89859328-G-A | c.1163G>A | p.W388* | Nonsense | 5/6 | - | 1 |
| 7-89859329-G-A | c.1164G>A | p.W388* | Nonsense | 5/6 | - | 1 |
| 7-89859333-G-A | c.1168G>A | p.E390K | Missense | 5/6 | - | 5 |
| 7-89859333-G-T | c.1168G>T | p.E390* | Nonsense | 5/6 | - | 5 |
| 7-89859343-T-C | c.1178T>C | p.F393S | Missense | 5/6 | - | 1 |
| 7-89859340-G-GT | c.1179dup | p.I394Yfs*27 | Frameshift | 5/6 | - | 1 |
| 7-89859344-T-C | c.1179T>C | p.F393= | Synonymous | 5/6 | - | 1 |
| 7-89859346-T-G | c.1181T>G | p.I394S | Missense | 5/6 | - | 1 |
| 7-89859349-A-G | c.1184A>G | p.Q395R | Missense | 5/6 | - | 1 |
| 7-89859977-T-C | c.1185+627T>C | - | IntronicSNV | - | 5/5 | 1 |
| 7-89860574-A-T | c.1186-1077A>T | - | IntronicSNV | - | 5/5 | 1 |
| 7-89860846-A-C | c.1186-805A>C | - | IntronicSNV | - | 5/5 | 1 |
| 7-89861654-A-T | c.1189A>T | p.T397S | Missense | 6/6 | - | 1 |
| 7-89861655-C-T | c.1190C>T | p.T397I | Missense | 6/6 | - | 1 |
| 7-89861667-T-G | c.1202T>G | p.V401G | Missense | 6/6 | - | 1 |
| 7-89861672-C-T | c.1207C>T | p.L403= | Synonymous | 6/6 | - | 1 |
| 7-89861674-G-A | c.1209G>A | p.L403= | Synonymous | 6/6 | - | 1 |
| 7-89861674-G-C | c.1209G>C | p.L403= | Synonymous | 6/6 | - | 1 |
| 7-89861674-G-T | c.1209G>T | p.L403= | Synonymous | 6/6 | - | 2 |
| 7-89861675-C-T | c.1210C>T | p.L404F | Missense | 6/6 | - | 1 |
| 7-89861676-T-C | c.1211T>C | p.L404P | Missense | 6/6 | - | 1 |
| 7-89861678-A-G | c.1213A>G | p.I405V | Missense | 6/6 | - | 1 |
| 7-89861689-C-T | c.1224C>T | p.F408= | Synonymous | 6/6 | - | 3 |
| 7-89861690-C-G | c.1225C>G | p.H409D | Missense | 6/6 | - | 1 |
| 7-89861691-A-T | c.1226A>T | p.H409L | Missense | 6/6 | - | 1 |
| 7-89861695-T-G | c.1230T>G | p.V410= | Synonymous | 6/6 | - | 1 |
| 7-89861701-T-A | c.1236T>A | p.I412= | Synonymous | 6/6 | - | 2 |
| 7-89861702-TATGGATGG-T | c.1239_1246del | p.Y413* | Frameshift | 6/6 | - | 1 |
| 7-89861704-T-C | c.1239T>C | p.Y413= | Synonymous | 6/6 | - | 1 |
| 7-89861705-G-A | c.1240G>A | p.G414R | Missense | 6/6 | - | 1 |
| 7-89861714-C-T | c.1249C>T | p.R417* | Nonsense | 6/6 | - | 1 |
| 7-89861715-G-A | c.1250G>A | p.R417Q | Missense | 6/6 | - | 3 |
| 7-89861716-A-T | c.1251A>T | p.R417= | Synonymous | 6/6 | - | 1 |
| 7-89861717-G-A | c.1252G>A | p.A418T | Missense | 6/6 | - | 2 |
| 7-89861718-C-T | c.1253C>T | p.A418V | Missense | 6/6 | - | 5 |
| 7-89861723-G-C | c.1258G>C | p.E420Q | Missense | 6/6 | - | 1 |
| 7-89861725-G-A | c.1260G>A | p.E420= | Synonymous | 6/6 | - | 1 |
| 7-89861728-A-C | c.1263A>C | p.E421D | Missense | 6/6 | - | 1 |
| 7-89861728-A-T | c.1263A>T | p.E421D | Missense | 6/6 | - | 1 |
| 7-89861733-A-G | c.1268A>G | p.Y423C | Missense | 6/6 | - | 2 |
| 7-89861767-T-A | c.1302T>A | p.L434= | Synonymous | 6/6 | - | 1 |
| 7-89861767-T-C | c.1302T>C | p.L434= | Synonymous | 6/6 | - | 1 |
| 7-89861767-T-G | c.1302T>G | p.L434= | Synonymous | 6/6 | - | 1 |
| 7-89861777-T-G | c.1312T>G | p.L438V | Missense | 6/6 | - | 1 |
| 7-89861786-AT-TG | c.1321_1322delinsTG | p.I441C | Missense | 6/6 | - | 1 |
| 7-89861793-T-C | c.1328T>C | p.I443T | Missense | 6/6 | - | 1 |
| 7-89861796-T-G | c.1331T>G | p.L444R | Missense | 6/6 | - | 2 |
| 7-89861799-G-T | c.1334G>T | p.G445V | Missense | 6/6 | - | 1 |
| 7-89861805-T-A | c.1340T>A | p.I447N | Missense | 6/6 | - | 2 |
| 7-89861807-A-G | c.1342A>G | p.I448V | UnclassifiedSNV | 6/6 | - | 1 |
| 7-89861820-C-T | c.1355C>T | p.P452L | Missense | 6/6 | - | 4 |
| 7-89861822-T-C | c.1357T>C | p.C453R | Missense | 6/6 | - | 3 |
| 7-89861828-A-C | c.1363A>C | p.S455R | Missense | 6/6 | - | 1 |
| 7-89861830-C-A | c.1365C>A | p.S455R | Missense | 6/6 | - | 1 |
| 7-89861830-C-G | c.1365C>G | p.S455R | Missense | 6/6 | - | 1 |
| 7-89861831-C-A | c.1366C>A | p.R456= | Synonymous | 6/6 | - | 2 |
| 7-89861831-C-T | c.1366C>T | p.R456* | Nonsense | 6/6 | - | 1 |
| 7-89861833-A-C | c.1368A>C | p.R456= | Synonymous | 6/6 | - | 2 |
| 7-89861833-A-G | c.1368A>G | p.R456= | Synonymous | 6/6 | - | 2 |
| 7-89861833-A-T | c.1368A>T | p.R456= | Synonymous | 6/6 | - | 2 |
| 7-89861832-G-A | c.1367G>A | p.R456Q | Missense | 6/6 | - | 36 |
| 7-89861834-A-C | c.1369A>C | p.K457Q | Missense | 6/6 | - | 1 |
| 7-89861839-A-C | c.1374A>C | p.L458= | Synonymous | 6/6 | - | 1 |
| 7-89861844-G-A | c.1379G>A | p.R460Q | Missense | 6/6 | - | 7 |
| 7-89861849-A-T | c.1384A>T | p.K462* | Nonsense | 6/6 | - | 1 |
| 7-89861856-G-A | c.1391G>A | p.G464D | Missense | 6/6 | - | 1 |
| 7-89861859-G-A | c.1394G>A | p.W465* | Nonsense | 6/6 | - | 1 |
| 7-89861860-G-A | c.1395G>A | p.W465* | Nonsense | 6/6 | - | 1 |
| 7-89861861-G-A | c.1396G>A | p.E466K | Missense | 6/6 | - | 2 |
| 7-89861867-A-C | c.1402A>C | p.S468R | Missense | 6/6 | - | 1 |
| 7-89861869-C-A | c.1404C>A | p.S468R | Missense | 6/6 | - | 1 |
| 7-89861869-C-G | c.1404C>G | p.S468R | Missense | 6/6 | - | 1 |
| 7-89861871-A-T | c.1406A>T | p.Q469L | Missense | 6/6 | - | 1 |
| 7-89861872-A-G | c.1407A>G | p.Q469= | Synonymous | 6/6 | - | 1 |
| 7-89861873-T-C | c.1408T>C | p.F470L | Missense | 6/6 | - | 1 |
| 7-89861876-C-T | c.1411C>T | p.L471= | Synonymous | 6/6 | - | 1 |
| 7-89861878-G-A | c.1413G>A | p.L471= | Synonymous | 6/6 | - | 1 |
| 7-89861878-G-C | c.1413G>C | p.L471= | Synonymous | 6/6 | - | 1 |
| 7-89861878-G-T | c.1413G>T | p.L471= | Synonymous | 6/6 | - | 1 |
| 7-89861879-G-A | c.1414G>A | p.E472K | Missense | 6/6 | - | 1 |
| 7-89861882-G-C | c.1417G>C | p.E473Q | UnclassifiedSNV | 6/6 | - | 1 |
| 7-89861890-G-A | c.1425G>A | p.M475I | Missense | 6/6 | - | 27 |
| 7-89861890-G-C | c.1425G>C | p.M475I | Missense | 6/6 | - | 21 |
| 7-89861890-G-T | c.1425G>T | p.M475I | Missense | 6/6 | - | 35 |
| 7-89861903-C-T | c.1438C>T | p.P480S | Missense | 6/6 | - | 2 |
| 7-89861917-G-A | c.1452G>A | p.P484= | Synonymous | 6/6 | - | 3 |
| 7-89861930-G-A | c.1465G>A | p.V489I | Missense | 6/6 | - | 1 |
| 7-89861942-C-T | c.*4C>T | - | 3-UTRSNV | 6/6 | - | 10 |
| 7-89861957-G-A | c.*19G>A | - | 3-UTRSNV | 6/6 | - | 6 |
| 7-89862034-G-A | c.*96G>A | - | 3-UTRSNV | 6/6 | - | 1 |
| 7-89862684-T-C | c.*746T>C | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89862998-T-A | c.*1060T>A | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89864313-T-A | c.*2375T>A | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89864573-A-G | c.*2635A>G | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89865506-C-A | c.*3568C>A | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89865661-C-A | c.*3723C>A | - | 3-UTRSNV | 6/6 | - | 3 |
| 7-89866031-T-C | c.*4093T>C | - | 3-UTRSNV | 6/6 | - | 1 |
| 7-89866845-G-T | c.*4907G>T | - | 3-UTRSNV | 6/6 | - | 1 |