| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-102740683-G-A | c.*3193C>T | - | 3-UTRSNV | 5/5 | - | 3 |
| 7-102741034-A-G | c.*2842T>C | - | 3-UTRSNV | 5/5 | - | 2 |
| 7-102741093-G-A | c.*2783C>T | - | 3-UTRSNV | 5/5 | - | 2 |
| 7-102742144-C-T | c.*1732G>A | - | 3-UTRSNV | 5/5 | - | 3 |
| 7-102742218-G-A | c.*1658C>T | - | 3-UTRSNV | 5/5 | - | 2 |
| 7-102742446-T-TCCC | c.*1427_*1429dup | - | 3-UTRInsertion | 5/5 | - | 3 |
| 7-102742446-T-TCC | c.*1428_*1429dup | - | 3-UTRInsertion | 5/5 | - | 3 |
| 7-102742446-T-TC | c.*1429dup | - | 3-UTRInsertion | 5/5 | - | 3 |
| 7-102742446-T-TCCCCCCCCC | c.*1429_*1430insGGGGGGGGG | - | 3-UTRInsertion | 5/5 | - | 3 |
| 7-102742446-T-TCCCCCCCCCCC | c.*1429_*1430insGGGGGGGGGGG | - | 3-UTRInsertion | 5/5 | - | 3 |
| 7-102742454-C-CG | c.*1421dup | - | 3-UTRInsertion | 5/5 | - | 1 |
| 7-102742554-T-A | c.*1322A>T | - | 3-UTRSNV | 5/5 | - | 3 |
| 7-102742554-T-G | c.*1322A>C | - | 3-UTRSNV | 5/5 | - | 3 |
| 7-102743890-C-T | c.1168G>A | p.D390N | Missense | 5/5 | - | 1 |
| 7-102743893-C-T | c.1165G>A | p.D389N | Missense | 5/5 | - | 29 |
| 7-102743914-C-T | c.1144G>A | p.E382K | Missense | 5/5 | - | 1 |
| 7-102743916-C-T | c.1142G>A | p.G381E | Missense | 5/5 | - | 3 |
| 7-102743924-C-A | c.1134G>T | p.L378F | Missense | 5/5 | - | 1 |
| 7-102743924-C-G | c.1134G>C | p.L378F | Missense | 5/5 | - | 2 |
| 7-102743927-G-A | c.1131C>T | p.V377= | Synonymous | 5/5 | - | 1 |
| 7-102743935-A-C | c.1123T>G | p.F375V | Missense | 5/5 | - | 1 |
| 7-102743937-T-A | c.1121A>T | p.D374V | Missense | 5/5 | - | 1 |
| 7-102743938-C-A | c.1120G>T | p.D374Y | Missense | 5/5 | - | 4 |
| 7-102743944-C-T | c.1114G>A | p.A372T | Missense | 5/5 | - | 1 |
| 7-102743949-A-G | c.1109T>C | p.L370P | Missense | 5/5 | - | 1 |
| 7-102743950-G-A | c.1108C>T | p.L370F | Missense | 5/5 | - | 1 |
| 7-102743955-T-C | c.1103A>G | p.Y368C | Missense | 5/5 | - | 2 |
| 7-102743958-C-T | c.1100G>A | p.R367K | Missense | 5/5 | - | 1 |
| 7-102743958-CT-GG | c.1099_1100delinsCC | p.R367P | Missense | 5/5 | - | 1 |
| 7-102743962-C-T | c.1096G>A | p.E366K | Missense | 5/5 | - | 2 |
| 7-102743965-G-C | c.1093C>G | p.L365V | Missense | 5/5 | - | 2 |
| 7-102743978-C-T | c.1080G>A | p.K360= | Synonymous | 5/5 | - | 1 |
| 7-102743981-C-A | c.1077G>T | p.V359= | Synonymous | 5/5 | - | 3 |
| 7-102743981-C-G | c.1077G>C | p.V359= | Synonymous | 5/5 | - | 2 |
| 7-102743981-C-T | c.1077G>A | p.V359= | Synonymous | 5/5 | - | 2 |
| 7-102743992-C-G | c.1066G>C | p.E356Q | Missense | 5/5 | - | 1 |
| 7-102743993-T-TA | c.1064dup | p.L355Ffs*9 | Frameshift | 5/5 | - | 1 |
| 7-102743996-G-A | c.1062C>T | p.Y354= | Synonymous | 5/5 | - | 1 |
| 7-102745951-A-G | c.1057-1950T>C | - | IntronicSNV | - | 4/4 | 3 |
| 7-102746078-A-C | c.1057-2077T>G | - | IntronicSNV | - | 4/4 | 2 |
| 7-102755311-GT-G | c.1056+195del | - | IntronicDeletion | - | 4/4 | 1 |
| 7-102755330-A-G | c.1056+177T>C | - | IntronicSNV | - | 4/4 | 3 |
| 7-102755330-A-T | c.1056+177T>A | - | IntronicSNV | - | 4/4 | 2 |
| 7-102755507-C-A | c.1056G>T | p.E352D | Missense | 4/5 | - | 1 |
| 7-102755507-C-T | c.1056G>A | p.E352= | Synonymous | 4/5 | - | 1 |
| 7-102755510-A-G | c.1053T>C | p.N351= | Synonymous | 4/5 | - | 1 |
| 7-102755519-G-A | c.1044C>T | p.A348= | Synonymous | 4/5 | - | 2 |
| 7-102755520-G-A | c.1043C>T | p.A348V | Missense | 4/5 | - | 1 |
| 7-102755522-AA-TT | c.1040_1041inv | p.F347* | Nonsense | 4/5 | - | 1 |
| 7-102755521-CA-C | c.1041del | p.F347Lfs*3 | Frameshift | 4/5 | - | 1 |
| 7-102755533-A-G | c.1030T>C | p.W344R | Missense | 4/5 | - | 1 |
| 7-102755533-A-T | c.1030T>A | p.W344R | Missense | 4/5 | - | 1 |
| 7-102755536-G-A | c.1027C>T | p.H343Y | Missense | 4/5 | - | 2 |
| 7-102755545-T-C | c.1018A>G | p.M340V | Missense | 4/5 | - | 4 |
| 7-102755552-C-A | c.1011G>T | p.K337N | Missense | 4/5 | - | 1 |
| 7-102755556-G-A | c.1007C>T | p.T336I | Missense | 4/5 | - | 1 |
| 7-102755556-G-C | c.1007C>G | p.T336R | Missense | 4/5 | - | 1 |
| 7-102755564-A-C | c.999T>G | p.D333E | Missense | 4/5 | - | 1 |
| 7-102755564-A-T | c.999T>A | p.D333E | Missense | 4/5 | - | 1 |
| 7-102755565-T-A | c.998A>T | p.D333V | Missense | 4/5 | - | 1 |
| 7-102755565-T-C | c.998A>G | p.D333G | Missense | 4/5 | - | 1 |
| 7-102755587-C-T | c.976G>A | p.E326K | Missense | 4/5 | - | 1 |
| 7-102755588-T-C | c.975A>G | p.E325= | Synonymous | 4/5 | - | 1 |
| 7-102755599-C-T | c.964G>A | p.V322I | Missense | 4/5 | - | 1 |
| 7-102755601-T-G | c.962A>C | p.H321P | Missense | 4/5 | - | 5 |
| 7-102755602-G-A | c.961C>T | p.H321Y | Missense | 4/5 | - | 1 |
| 7-102755604-TG-GA | c.958_959delinsTC | p.Q320S | Missense | 4/5 | - | 1 |
| 7-102755604-TG-GC | c.958_959delinsGC | p.Q320A | Missense | 4/5 | - | 1 |
| 7-102755612-C-T | c.951G>A | p.M317I | Missense | 4/5 | - | 1 |
| 7-102755615-A-C | c.948T>G | p.F316L | Missense | 4/5 | - | 1 |
| 7-102755615-A-T | c.948T>A | p.F316L | Missense | 4/5 | - | 1 |
| 7-102755617-A-G | c.946T>C | p.F316L | Missense | 4/5 | - | 1 |
| 7-102757466-C-T | c.942-1845G>A | - | IntronicSNV | - | 3/4 | 1 |
| 7-102760026-C-A | c.939G>T | p.P313= | Synonymous | 3/5 | - | 1 |
| 7-102760026-C-G | c.939G>C | p.P313= | Synonymous | 3/5 | - | 1 |
| 7-102760026-C-T | c.939G>A | p.P313= | Synonymous | 3/5 | - | 2 |
| 7-102760027-G-A | c.938C>T | p.P313L | Missense | 3/5 | - | 1 |
| 7-102760031-C-T | c.934G>A | p.E312K | Missense | 3/5 | - | 1 |
| 7-102760040-C-G | c.925G>C | p.G309R | Missense | 3/5 | - | 1 |
| 7-102760040-C-T | c.925G>A | p.G309R | Missense | 3/5 | - | 1 |
| 7-102760045-G-A | c.920C>T | p.P307L | Missense | 3/5 | - | 2 |
| 7-102760046-G-A | c.919C>T | p.P307S | Missense | 3/5 | - | 1 |
| 7-102760051-G-A | c.914C>T | p.A305V | Missense | 3/5 | - | 1 |
| 7-102760052-C-A | c.913G>T | p.A305S | Missense | 3/5 | - | 1 |
| 7-102760055-C-A | c.910G>T | p.A304S | Missense | 3/5 | - | 1 |
| 7-102760059-G-A | c.906C>T | p.D302= | Synonymous | 3/5 | - | 1 |
| 7-102760074-T-C | c.891A>G | p.R297= | Synonymous | 3/5 | - | 1 |
| 7-102760076-T-G | c.889A>C | p.R297= | Synonymous | 3/5 | - | 1 |
| 7-102760075-C-A | c.890G>T | p.R297I | Missense | 3/5 | - | 2 |
| 7-102760076-T-A | c.889A>T | p.R297* | Nonsense | 3/5 | - | 1 |
| 7-102760077-T-C | c.888A>G | p.K296= | Synonymous | 3/5 | - | 1 |
| 7-102760084-A-C | c.881T>G | p.I294R | Missense | 3/5 | - | 1 |
| 7-102760088-C-T | c.877G>A | p.E293K | Missense | 3/5 | - | 2 |
| 7-102760101-G-A | c.864C>T | p.C288= | Synonymous | 3/5 | - | 1 |
| 7-102760103-A-G | c.862T>C | p.C288R | Missense | 3/5 | - | 1 |
| 7-102760115-C-T | c.850G>A | p.D284N | Missense | 3/5 | - | 1 |
| 7-102760119-T-A | c.846A>T | p.A282= | Synonymous | 3/5 | - | 1 |
| 7-102760121-C-CG | c.843dup | p.A282Rfs*11 | Frameshift | 3/5 | - | 2 |
| 7-102760122-G-A | c.843C>T | p.F281= | Synonymous | 3/5 | - | 1 |
| 7-102760122-GA-G | c.842del | p.F281Sfs*14 | Frameshift | 3/5 | - | 10 |
| 7-102760122-G-GA | c.842dup | p.A282Rfs*11 | Frameshift | 3/5 | - | 2 |
| 7-102760131-TCG-ACA | c.832_834delinsTGT | p.R278C | Missense | 3/5 | - | 1 |
| 7-102760137-C-T | c.828G>A | p.W276* | Nonsense | 3/5 | - | 4 |
| 7-102760146-C-T | c.819G>A | p.L273= | Synonymous | 3/5 | - | 2 |
| 7-102760148-A-G | c.817T>C | p.L273= | Synonymous | 3/5 | - | 1 |
| 7-102760151-C-A | c.814G>T | p.V272F | Missense | 3/5 | - | 3 |
| 7-102760151-C-T | c.814G>A | p.V272I | Missense | 3/5 | - | 1 |
| 7-102760163-C-A | c.802G>T | p.G268C | Missense | 3/5 | - | 2 |
| 7-102760166-A-AT | c.798dup | p.W267Mfs*26 | Frameshift | 3/5 | - | 1 |
| 7-102760174-T-C | c.791A>G | p.K264R | Missense | 3/5 | - | 1 |
| 7-102760181-C-G | c.784G>C | p.D262H | Missense | 3/5 | - | 1 |
| 7-102760195-CT-GC | c.769_770delinsGC | p.R257A | Missense | 3/5 | - | 1 |
| 7-102760196-T-A | c.769A>T | p.R257W | Missense | 3/5 | - | 2 |
| 7-102760197-T-C | c.768A>G | p.K256= | Synonymous | 3/5 | - | 1 |
| 7-102760201-C-A | c.764G>T | p.C255F | Missense | 3/5 | - | 1 |
| 7-102760201-CA-GT | c.763_764delinsAC | p.C255T | Missense | 3/5 | - | 1 |
| 7-102760201-CA-TG | c.763_764inv | p.C255H | Missense | 3/5 | - | 1 |
| 7-102760202-A-ACCTTC | c.762_763insGAAGG | p.C255Efs*7 | Frameshift | 3/5 | - | 1 |
| 7-102760207-T-C | c.758A>G | p.H253R | Missense | 3/5 | - | 1 |
| 7-102760208-G-A | c.757C>T | p.H253Y | Missense | 3/5 | - | 1 |
| 7-102760211-G-A | c.754C>T | p.Q252* | Nonsense | 3/5 | - | 1 |
| 7-102760210-TGGGAA-T | c.750_754del | p.S251Afs*4 | Frameshift | 3/5 | - | 1 |
| 7-102760216-G-A | c.749C>T | p.P250L | Missense | 3/5 | - | 1 |
| 7-102760217-G-A | c.748C>T | p.P250S | Missense | 3/5 | - | 2 |
| 7-102760226-C-T | c.739G>A | p.V247I | Missense | 3/5 | - | 1 |
| 7-102760241-C-T | c.724G>A | p.D242N | Missense | 3/5 | - | 1 |
| 7-102760243-T-A | c.722A>T | p.H241L | Missense | 3/5 | - | 1 |
| 7-102760244-G-A | c.721C>T | p.H241Y | Missense | 3/5 | - | 1 |
| 7-102760244-G-T | c.721C>A | p.H241N | Missense | 3/5 | - | 1 |
| 7-102760246-C-A | c.719G>T | p.G240V | Missense | 3/5 | - | 1 |
| 7-102760247-C-G | c.718G>C | p.G240R | Missense | 3/5 | - | 1 |
| 7-102760247-C-T | c.718G>A | p.G240R | Missense | 3/5 | - | 2 |
| 7-102760249-G-A | c.716C>T | p.P239L | Missense | 3/5 | - | 1 |
| 7-102760252-A-G | c.713T>C | p.V238A | Missense | 3/5 | - | 1 |
| 7-102760271-A-C | c.694T>G | p.W232G | Missense | 3/5 | - | 1 |
| 7-102760278-C-T | c.687G>A | p.E229= | Synonymous | 3/5 | - | 2 |
| 7-102760280-C-G | c.685G>C | p.E229Q | Missense | 3/5 | - | 2 |
| 7-102760290-C-G | c.675G>C | p.E225D | Missense | 3/5 | - | 2 |
| 7-102760292-C-T | c.673G>A | p.E225K | Missense | 3/5 | - | 1 |
| 7-102760295-A-G | c.670T>C | p.C224R | Missense | 3/5 | - | 1 |
| 7-102760300-C-T | c.665G>A | p.C222Y | Missense | 3/5 | - | 2 |
| 7-102760305-TTTG-T | c.658_660del | p.Q220del | InFrameDeletion | 3/5 | - | 1 |
| 7-102760306-T-G | c.659A>C | p.Q220P | Missense | 3/5 | - | 1 |
| 7-102760308-C-T | c.657G>A | p.M219I | Missense | 3/5 | - | 1 |
| 7-102760319-G-A | c.646C>T | p.L216F | Missense | 3/5 | - | 1 |
| 7-102760322-G-A | c.643C>T | p.L215F | Missense | 3/5 | - | 1 |
| 7-102760340-A-G | c.625T>C | p.W209R | Missense | 3/5 | - | 1 |
| 7-102760340-A-T | c.625T>A | p.W209R | Missense | 3/5 | - | 1 |
| 7-102760341-T-A | c.624A>T | p.R208S | Missense | 3/5 | - | 1 |
| 7-102760341-T-G | c.624A>C | p.R208S | Missense | 3/5 | - | 1 |
| 7-102760347-C-T | c.618G>A | p.E206= | Synonymous | 3/5 | - | 3 |
| 7-102760348-T-G | c.617A>C | p.E206A | Missense | 3/5 | - | 1 |
| 7-102760350-A-C | c.615T>G | p.N205K | Missense | 3/5 | - | 1 |
| 7-102760350-A-T | c.615T>A | p.N205K | Missense | 3/5 | - | 1 |
| 7-102760355-C-G | c.610G>C | p.G204R | Missense | 3/5 | - | 1 |
| 7-102760360-C-A | c.605G>T | p.R202L | Missense | 3/5 | - | 1 |
| 7-102760364-C-G | c.601G>C | p.E201Q | Missense | 3/5 | - | 1 |
| 7-102760379-C-G | c.586G>C | p.V196L | Missense | 3/5 | - | 1 |
| 7-102760387-T-C | c.578A>G | p.Y193C | Missense | 3/5 | - | 1 |
| 7-102760394-G-C | c.571C>G | p.L191V | Missense | 3/5 | - | 1 |
| 7-102760394-G-T | c.571C>A | p.L191M | Missense | 3/5 | - | 2 |
| 7-102760404-G-A | c.561C>T | p.H187= | Synonymous | 3/5 | - | 1 |
| 7-102760405-T-C | c.560A>G | p.H187R | Missense | 3/5 | - | 1 |
| 7-102760409-T-G | c.556A>C | p.N186H | Missense | 3/5 | - | 1 |
| 7-102760419-TAAG-T | c.544_546del | p.L182del | InFrameDeletion | 3/5 | - | 2 |
| 7-102760426-G-A | c.539C>T | p.A180V | Missense | 3/5 | - | 7 |
| 7-102760427-C-G | c.538G>C | p.A180P | Missense | 3/5 | - | 1 |
| 7-102760427-C-T | c.538G>A | p.A180T | Missense | 3/5 | - | 1 |
| 7-102760435-G-A | c.530C>T | p.P177L | Missense | 3/5 | - | 3 |
| 7-102760439-G-A | c.526C>T | p.P176S | Missense | 3/5 | - | 1 |
| 7-102760440-G-T | c.525C>A | p.L175= | Synonymous | 3/5 | - | 1 |
| 7-102760442-G-T | c.523C>A | p.L175I | Missense | 3/5 | - | 1 |
| 7-102760458-C-A | c.507G>T | p.P169= | Synonymous | 3/5 | - | 2 |
| 7-102760458-C-G | c.507G>C | p.P169= | Synonymous | 3/5 | - | 2 |
| 7-102760458-C-T | c.507G>A | p.P169= | Synonymous | 3/5 | - | 4 |
| 7-102760459-G-A | c.506C>T | p.P169L | Missense | 3/5 | - | 4 |
| 7-102760460-G-A | c.505C>T | p.P169S | Missense | 3/5 | - | 1 |
| 7-102760461-G-A | c.504C>T | p.S168= | Synonymous | 3/5 | - | 2 |
| 7-102760462-G-A | c.503C>T | p.S168F | Missense | 3/5 | - | 2 |
| 7-102760462-G-C | c.503C>G | p.S168C | Missense | 3/5 | - | 1 |
| 7-102760465-C-T | c.500G>A | p.R167H | Missense | 3/5 | - | 1 |
| 7-102760466-G-A | c.499C>T | p.R167C | Missense | 3/5 | - | 1 |
| 7-102760467-A-C | c.498T>G | p.R166= | Synonymous | 3/5 | - | 1 |
| 7-102760467-A-G | c.498T>C | p.R166= | Synonymous | 3/5 | - | 1 |
| 7-102760467-A-T | c.498T>A | p.R166= | Synonymous | 3/5 | - | 1 |
| 7-102760468-C-T | c.497G>A | p.R166H | Missense | 3/5 | - | 1 |
| 7-102760469-G-A | c.496C>T | p.R166C | Missense | 3/5 | - | 8 |
| 7-102760474-C-T | c.491G>A | p.R164Q | Missense | 3/5 | - | 1 |
| 7-102760481-G-A | c.484C>T | p.P162S | Missense | 3/5 | - | 1 |
| 7-102760490-A-G | c.475T>C | p.Y159H | Missense | 3/5 | - | 1 |
| 7-102760492-TG-GA | c.472_473delinsTC | p.Q158S | Missense | 3/5 | - | 2 |
| 7-102760493-G-A | c.472C>T | p.Q158* | Nonsense | 3/5 | - | 1 |
| 7-102760494-C-A | c.471G>T | p.S157= | Synonymous | 3/5 | - | 1 |
| 7-102760494-C-G | c.471G>C | p.S157= | Synonymous | 3/5 | - | 1 |
| 7-102760494-C-T | c.471G>A | p.S157= | Synonymous | 3/5 | - | 2 |
| 7-102760498-G-A | c.467C>T | p.P156L | Missense | 3/5 | - | 1 |
| 7-102760503-A-C | c.462T>G | p.A154= | Synonymous | 3/5 | - | 1 |
| 7-102760503-A-G | c.462T>C | p.A154= | Synonymous | 3/5 | - | 1 |
| 7-102760503-A-T | c.462T>A | p.A154= | Synonymous | 3/5 | - | 1 |
| 7-102760507-C-T | c.458G>A | p.R153H | Missense | 3/5 | - | 2 |
| 7-102760508-G-A | c.457C>T | p.R153C | Missense | 3/5 | - | 4 |
| 7-102760511-A-C | c.454T>G | p.S152A | Missense | 3/5 | - | 22 |
| 7-102760511-A-G | c.454T>C | p.S152P | Missense | 3/5 | - | 5 |
| 7-102760511-A-T | c.454T>A | p.S152T | Missense | 3/5 | - | 5 |
| 7-102760520-TGG-T | c.443_444del | p.P148Hfs*3 | Frameshift | 3/5 | - | 1 |
| 7-102760527-C-A | c.438G>T | p.T146= | Synonymous | 3/5 | - | 3 |
| 7-102760527-C-G | c.438G>C | p.T146= | Synonymous | 3/5 | - | 3 |
| 7-102760527-C-T | c.438G>A | p.T146= | Synonymous | 3/5 | - | 5 |
| 7-102760530-G-A | c.435C>T | p.L145= | Synonymous | 3/5 | - | 3 |
| 7-102760530-G-C | c.435C>G | p.L145= | Synonymous | 3/5 | - | 1 |
| 7-102760530-G-T | c.435C>A | p.L145= | Synonymous | 3/5 | - | 1 |
| 7-102760531-A-C | c.434T>G | p.L145R | Missense | 3/5 | - | 1 |
| 7-102760532-G-T | c.433C>A | p.L145I | Missense | 3/5 | - | 1 |
| 7-102760540-A-G | c.425T>C | p.L142P | Missense | 3/5 | - | 1 |
| 7-102760544-C-T | c.421G>A | p.E141K | Missense | 3/5 | - | 4 |
| 7-102760547-C-T | c.418G>A | p.D140N | Missense | 3/5 | - | 1 |
| 7-102760548-C-A | c.417G>T | p.M139I | Missense | 3/5 | - | 1 |
| 7-102760548-C-G | c.417G>C | p.M139I | Missense | 3/5 | - | 1 |
| 7-102760548-C-T | c.417G>A | p.M139I | Missense | 3/5 | - | 1 |
| 7-102760553-C-T | c.412G>A | p.E138K | Missense | 3/5 | - | 1 |
| 7-102760556-C-T | c.409G>A | p.V137M | Missense | 3/5 | - | 1 |
| 7-102760559-T-A | c.406A>T | p.M136L | Missense | 3/5 | - | 1 |
| 7-102760561-A-G | c.404T>C | p.V135A | Missense | 3/5 | - | 1 |
| 7-102760562-C-A | c.403G>T | p.V135L | Missense | 3/5 | - | 1 |
| 7-102760563-C-A | c.402G>T | p.T134= | Synonymous | 3/5 | - | 1 |
| 7-102760563-C-G | c.402G>C | p.T134= | Synonymous | 3/5 | - | 1 |
| 7-102760563-C-T | c.402G>A | p.T134= | Synonymous | 3/5 | - | 1 |
| 7-102760572-T-A | c.393A>T | p.G131= | Synonymous | 3/5 | - | 2 |
| 7-102760572-T-C | c.393A>G | p.G131= | Synonymous | 3/5 | - | 2 |
| 7-102760572-T-G | c.393A>C | p.G131= | Synonymous | 3/5 | - | 2 |
| 7-102760577-G-T | c.388C>A | p.L130M | Missense | 3/5 | - | 2 |
| 7-102760597-G-T | c.368C>A | p.A123D | Missense | 3/5 | - | 1 |
| 7-102760601-C-A | c.364G>T | p.E122* | Nonsense | 3/5 | - | 1 |
| 7-102760602-C-T | c.363G>A | p.R121= | Synonymous | 3/5 | - | 1 |
| 7-102760604-T-G | c.361A>C | p.R121= | Synonymous | 3/5 | - | 1 |
| 7-102760607-C-T | c.358G>A | p.V120M | Missense | 3/5 | - | 1 |
| 7-102760610-C-A | c.355G>T | p.G119* | Nonsense | 3/5 | - | 2 |
| 7-102760612-G-T | c.353C>A | p.A118D | Missense | 3/5 | - | 1 |
| 7-102760619-C-CG | c.345_346insC | p.E116Rfs*26 | Frameshift | 3/5 | - | 1 |
| 7-102760625-T-A | c.340A>T | p.N114Y | Missense | 3/5 | - | 1 |
| 7-102760638-T-A | c.327A>T | p.P109= | Synonymous | 3/5 | - | 1 |
| 7-102760638-T-C | c.327A>G | p.P109= | Synonymous | 3/5 | - | 1 |
| 7-102760638-T-G | c.327A>C | p.P109= | Synonymous | 3/5 | - | 1 |
| 7-102760640-G-A | c.325C>T | p.P109S | Missense | 3/5 | - | 1 |
| 7-102760641-C-A | c.324G>T | p.K108N | Missense | 3/5 | - | 4 |
| 7-102760646-G-A | c.319C>T | p.L107F | Missense | 3/5 | - | 3 |
| 7-102760646-G-T | c.319C>A | p.L107I | Missense | 3/5 | - | 1 |
| 7-102760653-G-A | c.312C>T | p.L104= | Synonymous | 3/5 | - | 1 |
| 7-102760653-G-C | c.312C>G | p.L104= | Synonymous | 3/5 | - | 1 |
| 7-102760653-G-T | c.312C>A | p.L104= | Synonymous | 3/5 | - | 1 |
| 7-102760658-C-A | c.307G>T | p.E103* | Nonsense | 3/5 | - | 1 |
| 7-102760658-C-T | c.307G>A | p.E103K | Missense | 3/5 | - | 2 |
| 7-102760662-G-A | c.303C>T | p.D101= | Synonymous | 3/5 | - | 1 |
| 7-102760664-C-T | c.301G>A | p.D101N | Missense | 3/5 | - | 3 |
| 7-102760722-A-G | c.295-52T>C | - | IntronicSNV | - | 2/4 | 3 |
| 7-102760774-A-G | c.295-104T>C | - | IntronicSNV | - | 2/4 | 3 |
| 7-102760774-A-T | c.295-104T>A | - | IntronicSNV | - | 2/4 | 3 |
| 7-102768767-T-C | c.294+163A>G | - | IntronicSNV | - | 2/4 | 1 |
| 7-102768874-C-G | c.294+56G>C | - | IntronicSNV | - | 2/4 | 1 |
| 7-102768930-C-T | c.294G>A | p.E98= | Synonymous | 2/5 | - | 1 |
| 7-102768932-C-A | c.292G>T | p.E98* | Nonsense | 2/5 | - | 1 |
| 7-102768959-C-T | c.265G>A | p.D89N | Missense | 2/5 | - | 1 |
| 7-102768957-ATCTT-A | c.263_266del | p.K88Ifs*12 | Frameshift | 2/5 | - | 1 |
| 7-102768970-A-T | c.254T>A | p.I85K | Missense | 2/5 | - | 2 |
| 7-102768971-T-C | c.253A>G | p.I85V | Missense | 2/5 | - | 1 |
| 7-102768972-C-A | c.252G>T | p.L84= | Synonymous | 2/5 | - | 2 |
| 7-102768972-C-G | c.252G>C | p.L84= | Synonymous | 2/5 | - | 1 |
| 7-102768972-C-T | c.252G>A | p.L84= | Synonymous | 2/5 | - | 1 |
| 7-102768974-G-A | c.250C>T | p.L84= | Synonymous | 2/5 | - | 1 |
| 7-102768975-C-T | c.249G>A | p.W83* | Nonsense | 2/5 | - | 1 |
| 7-102768976-C-A | c.248G>T | p.W83L | Missense | 2/5 | - | 1 |
| 7-102768981-G-A | c.243C>T | p.L81= | Synonymous | 2/5 | - | 4 |
| 7-102768981-G-C | c.243C>G | p.L81= | Synonymous | 2/5 | - | 1 |
| 7-102768981-G-T | c.243C>A | p.L81= | Synonymous | 2/5 | - | 1 |
| 7-102768985-A-G | c.239T>C | p.V80A | Missense | 2/5 | - | 4 |
| 7-102769005-T-A | c.219A>T | p.K73N | Missense | 2/5 | - | 1 |
| 7-102769006-T-C | c.218A>G | p.K73R | Missense | 2/5 | - | 2 |
| 7-102769002-G-GT | c.221dup | p.N74Kfs*24 | Frameshift | 2/5 | - | 1 |
| 7-102769007-T-A | c.217A>T | p.K73* | Nonsense | 2/5 | - | 1 |
| 7-102769015-G-A | c.209C>T | p.P70L | Missense | 2/5 | - | 1 |
| 7-102769016-G-A | c.208C>T | p.P70S | Missense | 2/5 | - | 1 |
| 7-102769020-C-A | c.204G>T | p.P68= | Synonymous | 2/5 | - | 1 |
| 7-102769020-C-G | c.204G>C | p.P68= | Synonymous | 2/5 | - | 1 |
| 7-102769020-C-T | c.204G>A | p.P68= | Synonymous | 2/5 | - | 1 |
| 7-102769021-G-A | c.203C>T | p.P68L | Missense | 2/5 | - | 3 |
| 7-102769022-G-A | c.202C>T | p.P68S | Missense | 2/5 | - | 1 |
| 7-102769033-C-T | c.191G>A | p.R64K | Missense | 2/5 | - | 1 |
| 7-102769036-C-T | c.188G>A | p.G63E | Missense | 2/5 | - | 1 |
| 7-102769037-C-T | c.187G>A | p.G63R | Missense | 2/5 | - | 1 |
| 7-102769043-T-C | c.181A>G | p.K61E | Missense | 2/5 | - | 1 |
| 7-102769045-C-G | c.179G>C | p.G60A | Missense | 2/5 | - | 3 |
| 7-102769054-G-C | c.170C>G | p.S57C | Missense | 2/5 | - | 1 |
| 7-102769055-A-C | c.169T>G | p.S57A | Missense | 2/5 | - | 1 |
| 7-102769068-T-A | c.156A>T | p.E52D | Missense | 2/5 | - | 1 |
| 7-102769068-T-G | c.156A>C | p.E52D | Missense | 2/5 | - | 1 |
| 7-102769073-C-T | c.151G>A | p.E51K | Missense | 2/5 | - | 1 |
| 7-102769078-C-G | c.146G>C | p.R49T | Missense | 2/5 | - | 2 |
| 7-102769079-T-C | c.145A>G | p.R49G | Missense | 2/5 | - | 1 |
| 7-102769099-T-A | c.125A>T | p.K42I | Missense | 2/5 | - | 1 |
| 7-102769105-G-C | c.119C>G | p.S40C | Missense | 2/5 | - | 1 |
| 7-102769130-C-G | c.94G>C | p.G32R | Missense | 2/5 | - | 1 |
| 7-102769130-C-T | c.94G>A | p.G32R | Missense | 2/5 | - | 1 |
| 7-102769132-G-A | c.92C>T | p.S31F | Missense | 2/5 | - | 5 |
| 7-102769139-G-A | c.85C>T | p.R29W | Missense | 2/5 | - | 1 |
| 7-102769142-C-A | c.82G>T | p.A28S | Missense | 2/5 | - | 1 |
| 7-102769151-G-T | c.73C>A | p.Q25K | Missense | 2/5 | - | 1 |
| 7-102769152-ACG-CCA | c.70_72delinsTGG | p.R24W | Missense | 2/5 | - | 1 |
| 7-102769154-G-A | c.70C>T | p.R24C | Missense | 2/5 | - | 2 |
| 7-102769156-T-C | c.68A>G | p.K23R | Missense | 2/5 | - | 2 |
| 7-102769164-TGC-ACA | c.58_60delinsTGT | p.A20C | Missense | 2/5 | - | 1 |
| 7-102769164-TGC-GTT | c.58_60delinsAAC | p.A20N | Missense | 2/5 | - | 1 |
| 7-102769164-TG-GT | c.59_60delinsAC | p.A20D | Missense | 2/5 | - | 2 |
| 7-102769166-C-T | c.58G>A | p.A20T | Missense | 2/5 | - | 1 |
| 7-102769168-T-C | c.56A>G | p.E19G | Missense | 2/5 | - | 1 |
| 7-102769171-TT-GC | c.52_53delinsGC | p.K18A | Missense | 2/5 | - | 1 |
| 7-102769218-A-C | c.6T>G | p.D2E | Missense | 2/5 | - | 1 |
| 7-102769218-A-T | c.6T>A | p.D2E | Missense | 2/5 | - | 1 |
| 7-102769220-C-G | c.4G>C | p.D2H | Missense | 2/5 | - | 1 |
| 7-102769511-G-A | c.-16-272C>T | - | IntronicSNV | - | 1/4 | 1 |
| 7-102775258-C-A | c.-16-6019G>T | - | IntronicSNV | - | 1/4 | 1 |
| 7-102781936-G-A | c.-17+7322C>T | - | intron_variant | - | 1/4 | 1 |
| 7-102782113-T-C | c.-17+7145A>G | - | intron_variant | - | 1/4 | 2 |
| 7-102782393-A-G | c.-17+6865T>C | - | intron_variant | - | 1/4 | 4 |
| 7-102782446-A-C | c.-17+6812T>G | - | intron_variant | - | 1/4 | 4 |
| 7-102782446-A-T | c.-17+6812T>A | - | intron_variant | - | 1/4 | 4 |
| 7-102783527-C-A | c.-17+5731G>T | - | intron_variant | - | 1/4 | 1 |
| 7-102784771-C-T | c.-17+4487G>A | - | intron_variant | - | 1/4 | 1 |
| 7-102786431-C-T | c.-17+2827G>A | - | intron_variant | - | 1/4 | 1 |
| 7-102789495-A-C | c.-254T>G | - | 5_prime_UTR_variant | 1/5 | - | 4 |
| 7-102789495-A-G | c.-254T>C | - | 5_prime_UTR_variant | 1/5 | - | 4 |