| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-106809477-G-A | c.-169G>A | - | 5_prime_UTR_variant | 1/11 | - | 1 |
| 7-106809649-A-C | c.-16+19A>C | - | intron_variant | - | 1/10 | 2 |
| 7-106809649-A-G | c.-16+19A>G | - | intron_variant | - | 1/10 | 2 |
| 7-106810293-G-A | c.-16+663G>A | - | intron_variant | - | 1/10 | 3 |
| 7-106810293-G-C | c.-16+663G>C | - | intron_variant | - | 1/10 | 3 |
| 7-106810293-G-T | c.-16+663G>T | - | intron_variant | - | 1/10 | 3 |
| 7-106811479-T-A | c.-16+1849T>A | - | intron_variant | - | 1/10 | 1 |
| 7-106811479-T-C | c.-16+1849T>C | - | intron_variant | - | 1/10 | 1 |
| 7-106811518-A-G | c.-16+1888A>G | - | intron_variant | - | 1/10 | 1 |
| 7-106811518-A-T | c.-16+1888A>T | - | intron_variant | - | 1/10 | 1 |
| 7-106812246-A-G | c.-16+2616A>G | - | intron_variant | - | 1/10 | 2 |
| 7-106815154-T-C | c.-15-5170T>C | - | IntronicSNV | - | 1/10 | 3 |
| 7-106820363-C-G | c.25C>G | p.Q9E | Missense | 2/11 | - | 1 |
| 7-106820369-CC-GG | c.31_32inv | p.P11G | Missense | 2/11 | - | 1 |
| 7-106820374-T-C | c.36T>C | p.N12= | Synonymous | 2/11 | - | 1 |
| 7-106820378-G-A | c.40G>A | p.V14I | Missense | 2/11 | - | 2 |
| 7-106820378-G-C | c.40G>C | p.V14L | Missense | 2/11 | - | 1 |
| 7-106820385-A-G | c.47A>G | p.K16R | Missense | 2/11 | - | 1 |
| 7-106820390-C-G | c.52C>G | p.L18V | Missense | 2/11 | - | 1 |
| 7-106820391-T-C | c.53T>C | p.L18P | Missense | 2/11 | - | 1 |
| 7-106820391-T-G | c.53T>G | p.L18R | Missense | 2/11 | - | 1 |
| 7-106820396-G-C | c.58G>C | p.V20L | Missense | 2/11 | - | 1 |
| 7-106820396-GTG-ATC | c.58_60delinsATC | p.V20I | Missense | 2/11 | - | 1 |
| 7-106820404-C-A | c.66C>A | p.D22E | Missense | 2/11 | - | 1 |
| 7-106820404-C-G | c.66C>G | p.D22E | Missense | 2/11 | - | 1 |
| 7-106820408-AGA-CAT | c.70_72delinsCAT | p.R24H | Missense | 2/11 | - | 1 |
| 7-106820409-G-A | c.71G>A | p.R24K | Missense | 2/11 | - | 1 |
| 7-106820411-G-A | c.73G>A | p.A25T | Missense | 2/11 | - | 2 |
| 7-106820412-C-A | c.74C>A | p.A25D | Missense | 2/11 | - | 1 |
| 7-106820414-T-G | c.76T>G | p.S26A | Missense | 2/11 | - | 1 |
| 7-106820415-C-T | c.77C>T | p.S26L | Missense | 2/11 | - | 2 |
| 7-106820416-A-C | c.78A>C | p.S26= | Synonymous | 2/11 | - | 1 |
| 7-106820416-A-G | c.78A>G | p.S26= | Synonymous | 2/11 | - | 1 |
| 7-106820416-A-T | c.78A>T | p.S26= | Synonymous | 2/11 | - | 1 |
| 7-106820421-T-A | c.83T>A | p.M28K | Missense | 2/11 | - | 1 |
| 7-106820422-G-T | c.84G>T | p.M28I | Missense | 2/11 | - | 1 |
| 7-106820453-G-A | c.115G>A | p.E39K | Missense | 2/11 | - | 1 |
| 7-106820455-G-A | c.117G>A | p.E39= | Synonymous | 2/11 | - | 1 |
| 7-106820463-C-CA | c.126dup | p.S43Ifs*6 | Frameshift | 2/11 | - | 1 |
| 7-106820464-A-C | c.126A>C | p.P42= | Synonymous | 2/11 | - | 1 |
| 7-106820464-A-G | c.126A>G | p.P42= | Synonymous | 2/11 | - | 3 |
| 7-106820464-A-T | c.126A>T | p.P42= | Synonymous | 2/11 | - | 1 |
| 7-106820471-C-T | c.133C>T | p.P45S | Missense | 2/11 | - | 1 |
| 7-106820472-C-T | c.134C>T | p.P45L | Missense | 2/11 | - | 1 |
| 7-106820494-A-G | c.156A>G | p.E52= | Synonymous | 2/11 | - | 1 |
| 7-106820503-G-C | c.165G>C | p.E55D | Missense | 2/11 | - | 1 |
| 7-106820503-G-T | c.165G>T | p.E55D | Missense | 2/11 | - | 1 |
| 7-106820506-T-C | c.168T>C | p.L56= | Synonymous | 2/11 | - | 4 |
| 7-106822828-T-C | c.180T>C | p.P60= | Synonymous | 3/11 | - | 1 |
| 7-106822829-G-A | c.181G>A | p.E61K | Missense | 3/11 | - | 6 |
| 7-106822838-G-A | c.190G>A | p.A64T | Missense | 3/11 | - | 1 |
| 7-106822846-A-C | c.198A>C | p.Q66H | Missense | 3/11 | - | 1 |
| 7-106822846-A-T | c.198A>T | p.Q66H | Missense | 3/11 | - | 1 |
| 7-106822859-C-T | c.211C>T | p.Q71* | Nonsense | 3/11 | - | 1 |
| 7-106822863-C-G | c.215C>G | p.S72C | Missense | 3/11 | - | 1 |
| 7-106822866-G-T | c.218G>T | p.G73V | Missense | 3/11 | - | 1 |
| 7-106822878-T-A | c.230T>A | p.L77Q | Missense | 3/11 | - | 1 |
| 7-106822878-T-C | c.230T>C | p.L77P | Missense | 3/11 | - | 2 |
| 7-106822879-G-A | c.231G>A | p.L77= | Synonymous | 3/11 | - | 1 |
| 7-106822886-G-A | c.238G>A | p.D80N | Missense | 3/11 | - | 2 |
| 7-106822893-C-T | c.245C>T | p.S82L | Missense | 3/11 | - | 1 |
| 7-106822896-A-T | c.248A>T | p.H83L | Missense | 3/11 | - | 1 |
| 7-106822898-C-A | c.250C>A | p.Q84K | Missense | 3/11 | - | 2 |
| 7-106822910-A-G | c.262A>G | p.R88G | Missense | 3/11 | - | 1 |
| 7-106822912-A-C | c.264A>C | p.R88S | Missense | 3/11 | - | 1 |
| 7-106822921-G-C | c.273G>C | p.W91C | Missense | 3/11 | - | 1 |
| 7-106822921-G-T | c.273G>T | p.W91C | Missense | 3/11 | - | 1 |
| 7-106822935-C-T | c.287C>T | p.S96L | Missense | 3/11 | - | 2 |
| 7-106822945-A-C | c.297A>C | p.P99= | Synonymous | 3/11 | - | 1 |
| 7-106822945-A-G | c.297A>G | p.P99= | Synonymous | 3/11 | - | 1 |
| 7-106822945-A-T | c.297A>T | p.P99= | Synonymous | 3/11 | - | 1 |
| 7-106822947-A-T | c.299A>T | p.E100V | Missense | 3/11 | - | 1 |
| 7-106822951-T-C | c.303T>C | p.T101= | Synonymous | 3/11 | - | 1 |
| 7-106822952-A-G | c.304A>G | p.T102A | Missense | 3/11 | - | 1 |
| 7-106822957-C-T | c.309C>T | p.Y103= | Synonymous | 3/11 | - | 1 |
| 7-106822958-C-T | c.310C>T | p.R104C | Missense | 3/11 | - | 1 |
| 7-106822959-G-A | c.311G>A | p.R104H | Missense | 3/11 | - | 2 |
| 7-106822967-G-T | c.319G>T | p.E107* | Nonsense | 3/11 | - | 1 |
| 7-106822972-G-A | c.324G>A | p.V108= | Synonymous | 3/11 | - | 1 |
| 7-106822979-CTA-ATG | c.331_333delinsATG | p.L111M | Missense | 3/11 | - | 1 |
| 7-106822991-G-A | c.343G>A | p.A115T | Missense | 3/11 | - | 1 |
| 7-106822994-A-G | c.346A>G | p.N116D | Missense | 3/11 | - | 4 |
| 7-106822999-C-G | c.351C>G | p.I117M | Missense | 3/11 | - | 1 |
| 7-106822999-C-T | c.351C>T | p.I117= | Synonymous | 3/11 | - | 3 |
| 7-106823000-G-A | c.352G>A | p.A118T | Missense | 3/11 | - | 1 |
| 7-106823002-G-A | c.354G>A | p.A118= | Synonymous | 3/11 | - | 1 |
| 7-106823002-G-C | c.354G>C | p.A118= | Synonymous | 3/11 | - | 1 |
| 7-106823002-G-T | c.354G>T | p.A118= | Synonymous | 3/11 | - | 1 |
| 7-106823003-AC-GG | c.355_356delinsGG | p.T119G | Missense | 3/11 | - | 1 |
| 7-106823003-A-G | c.355A>G | p.T119A | Missense | 3/11 | - | 3 |
| 7-106823004-CC-TG | c.356_357delinsTG | p.T119M | Missense | 3/11 | - | 8 |
| 7-106823005-C-A | c.357C>A | p.T119= | Synonymous | 3/11 | - | 1 |
| 7-106823005-C-G | c.357C>G | p.T119= | Synonymous | 3/11 | - | 1 |
| 7-106823005-C-T | c.357C>T | p.T119= | Synonymous | 3/11 | - | 1 |
| 7-106823014-A-C | c.366A>C | p.Q122H | Missense | 3/11 | - | 2 |
| 7-106823018-C-T | c.370C>T | p.P124S | Missense | 3/11 | - | 1 |
| 7-106823020-A-C | c.372A>C | p.P124= | Synonymous | 3/11 | - | 1 |
| 7-106823020-A-G | c.372A>G | p.P124= | Synonymous | 3/11 | - | 1 |
| 7-106823020-A-T | c.372A>T | p.P124= | Synonymous | 3/11 | - | 1 |
| 7-106823026-G-T | c.378G>T | p.M126I | Missense | 3/11 | - | 1 |
| 7-106823046-G-A | c.398G>A | p.R133K | Missense | 3/11 | - | 1 |
| 7-106823046-G-C | c.398G>C | p.R133T | Missense | 3/11 | - | 3 |
| 7-106824090-AT-A | c.398+1054del | - | IntronicDeletion | - | 3/10 | 1 |
| 7-106826248-C-A | c.401C>A | p.S134* | Nonsense | 4/11 | - | 1 |
| 7-106826248-C-G | c.401C>G | p.S134* | Nonsense | 4/11 | - | 1 |
| 7-106826251-C-G | c.404C>G | p.S135C | Missense | 4/11 | - | 3 |
| 7-106826252-T-A | c.405T>A | p.S135= | Synonymous | 4/11 | - | 1 |
| 7-106826252-T-C | c.405T>C | p.S135= | Synonymous | 4/11 | - | 1 |
| 7-106826252-T-G | c.405T>G | p.S135= | Synonymous | 4/11 | - | 1 |
| 7-106826254-C-T | c.407C>T | p.P136L | Missense | 4/11 | - | 2 |
| 7-106826257-T-A | c.410T>A | p.V137E | Missense | 4/11 | - | 1 |
| 7-106826264-C-A | c.417C>A | p.I139= | Synonymous | 4/11 | - | 1 |
| 7-106826264-C-T | c.417C>T | p.I139= | Synonymous | 4/11 | - | 1 |
| 7-106826268-G-A | c.421G>A | p.A141T | Missense | 4/11 | - | 1 |
| 7-106826269-C-A | c.422C>A | p.A141D | Missense | 4/11 | - | 1 |
| 7-106826272-C-A | c.425C>A | p.T142N | Missense | 4/11 | - | 1 |
| 7-106826278-A-G | c.431A>G | p.K144R | Missense | 4/11 | - | 1 |
| 7-106826298-C-A | c.451C>A | p.R151S | Missense | 4/11 | - | 1 |
| 7-106826298-C-T | c.451C>T | p.R151C | Missense | 4/11 | - | 5 |
| 7-106826299-G-A | c.452G>A | p.R151H | Missense | 4/11 | - | 6 |
| 7-106826304-C-T | c.457C>T | p.P153S | Missense | 4/11 | - | 1 |
| 7-106826316-TC-CT | c.469_470delinsCT | p.S157L | Missense | 4/11 | - | 1 |
| 7-106826320-C-T | c.473C>T | p.S158F | Missense | 4/11 | - | 5 |
| 7-106826322-TCG-ATC | c.475_477delinsATC | p.S159I | Missense | 4/11 | - | 1 |
| 7-106826322-TTCG-T | c.475_477del | p.S159del | InFrameDeletion | 4/11 | - | 1 |
| 7-106826323-C-T | c.476C>T | p.S159L | Missense | 4/11 | - | 4 |
| 7-106826330-T-C | c.483T>C | p.S161= | Synonymous | 4/11 | - | 1 |
| 7-106826333-A-G | c.486A>G | p.E162= | Synonymous | 4/11 | - | 1 |
| 7-106826334-C-T | c.487C>T | p.P163S | Missense | 4/11 | - | 1 |
| 7-106826346-C-T | c.499C>T | p.H167Y | Missense | 4/11 | - | 1 |
| 7-106826349-C-G | c.502C>G | p.H168D | Missense | 4/11 | - | 1 |
| 7-106826350-A-G | c.503A>G | p.H168R | Missense | 4/11 | - | 1 |
| 7-106826351-C-T | c.504C>T | p.H168= | Synonymous | 4/11 | - | 3 |
| 7-106826356-G-GTT | c.509_510insTT | p.W170Cfs*2 | Frameshift | 4/11 | - | 1 |
| 7-106826357-G-GT | c.510_511insT | p.K171* | Nonsense | 4/11 | - | 1 |
| 7-106826358-A-C | c.511A>C | p.K171Q | Missense | 4/11 | - | 1 |
| 7-106826359-A-G | c.512A>G | p.K171R | Missense | 4/11 | - | 2 |
| 7-106826363-G-A | c.516G>A | p.E172= | Synonymous | 4/11 | - | 1 |
| 7-106826369-A-C | c.522A>C | p.T174= | Synonymous | 4/11 | - | 1 |
| 7-106826369-A-G | c.522A>G | p.T174= | Synonymous | 4/11 | - | 1 |
| 7-106826369-A-T | c.522A>T | p.T174= | Synonymous | 4/11 | - | 1 |
| 7-106826370-C-T | c.523C>T | p.P175S | Missense | 4/11 | - | 1 |
| 7-106826374-T-C | c.527T>C | p.V176A | Missense | 4/11 | - | 1 |
| 7-106826377-G-C | c.530G>C | p.R177T | Missense | 4/11 | - | 1 |
| 7-106826380-A-ATT | c.533_534insTT | p.E179Sfs*39 | Frameshift | 4/11 | - | 2 |
| 7-106826380-A-ATTC | c.533_534insTTC | p.H178_E179insS | InFrameInsertion | 4/11 | - | 2 |
| 7-106826381-C-CT | c.534_535insT | p.E179* | Nonsense | 4/11 | - | 1 |
| 7-106826381-C-T | c.534C>T | p.H178= | Synonymous | 4/11 | - | 14 |
| 7-106826382-G-A | c.535G>A | p.E179K | Missense | 4/11 | - | 2 |
| 7-106826382-G-C | c.535G>C | p.E179Q | Missense | 4/11 | - | 1 |
| 7-106826385-A-G | c.538A>G | p.R180G | Missense | 4/11 | - | 1 |
| 7-106826385-AG-CT | c.538_539inv | p.R180L | Missense | 4/11 | - | 1 |
| 7-106826385-AG-GT | c.538_539delinsGT | p.R180V | Missense | 4/11 | - | 1 |
| 7-106826385-A-T | c.538A>T | p.R180W | Missense | 4/11 | - | 1 |
| 7-106826386-G-A | c.539G>A | p.R180K | Missense | 4/11 | - | 1 |
| 7-106826434-T-C | c.540+47T>C | - | IntronicSNV | - | 4/10 | 1 |
| 7-106826439-G-A | c.540+52G>A | - | IntronicSNV | - | 4/10 | 3 |
| 7-106826812-A-G | c.547A>G | p.S183G | Missense | 5/11 | - | 1 |
| 7-106826812-A-C | c.547A>C | p.S183R | Missense | 5/11 | - | 1 |
| 7-106826814-T-A | c.549T>A | p.S183R | Missense | 5/11 | - | 1 |
| 7-106826814-T-G | c.549T>G | p.S183R | Missense | 5/11 | - | 1 |
| 7-106826815-GA-CT | c.550_551delinsCT | p.E184L | Missense | 5/11 | - | 1 |
| 7-106826815-GAG-TTT | c.550_552delinsTTT | p.E184F | Missense | 5/11 | - | 1 |
| 7-106826822-A-C | c.557A>C | p.E186A | Missense | 5/11 | - | 1 |
| 7-106826828-G-A | c.563G>A | p.G188D | Missense | 5/11 | - | 4 |
| 7-106826828-G-GTT | c.563_564insTT | p.I189Sfs*29 | Frameshift | 5/11 | - | 1 |
| 7-106826829-C-CT | c.564_565insT | p.I189Yfs*10 | Frameshift | 5/11 | - | 1 |
| 7-106826829-C-T | c.564C>T | p.G188= | Synonymous | 5/11 | - | 1 |
| 7-106826830-A-G | c.565A>G | p.I189V | Missense | 5/11 | - | 1 |
| 7-106826840-T-C | c.575T>C | p.M192T | Missense | 5/11 | - | 1 |
| 7-106826848-C-G | c.583C>G | p.L195V | Missense | 5/11 | - | 2 |
| 7-106826852-C-A | c.587C>A | p.S196* | Nonsense | 5/11 | - | 1 |
| 7-106826852-C-T | c.587C>T | p.S196L | Missense | 5/11 | - | 1 |
| 7-106826854-G-T | c.589G>T | p.D197Y | Missense | 5/11 | - | 1 |
| 7-106826860-G-A | c.595G>A | p.D199N | Missense | 5/11 | - | 3 |
| 7-106826853-AGAT-A | c.598_600del | p.D200del | InFrameDeletion | 5/11 | - | 1 |
| 7-106826866-T-C | c.601T>C | p.L201= | Synonymous | 5/11 | - | 1 |
| 7-106826868-G-A | c.603G>A | p.L201= | Synonymous | 5/11 | - | 1 |
| 7-106826869-GGA-AGC | c.604_606delinsAGC | p.G202S | Missense | 5/11 | - | 1 |
| 7-106826873-G-A | c.608G>A | p.W203* | Nonsense | 5/11 | - | 1 |
| 7-106826874-G-A | c.609G>A | p.W203* | Nonsense | 5/11 | - | 1 |
| 7-106826874-G-T | c.609G>T | p.W203C | Missense | 5/11 | - | 1 |
| 7-106826875-T-C | c.610T>C | p.C204R | Missense | 5/11 | - | 2 |
| 7-106826883-C-T | c.618C>T | p.S206= | Synonymous | 5/11 | - | 1 |
| 7-106826888-C-G | c.623C>G | p.P208R | Missense | 5/11 | - | 1 |
| 7-106826889-T-C | c.624T>C | p.P208= | Synonymous | 5/11 | - | 1 |
| 7-106826896-G-A | c.631G>A | p.V211I | Missense | 5/11 | - | 1 |
| 7-106827016-A-G | c.655A>G | p.T219A | Missense | 6/11 | - | 1 |
| 7-106827019-CGA-TGT | c.658_660delinsTGT | p.R220C | Missense | 6/11 | - | 1 |
| 7-106827019-C-T | c.658C>T | p.R220* | Nonsense | 6/11 | - | 1 |
| 7-106827020-G-A | c.659G>A | p.R220Q | Missense | 6/11 | - | 3 |
| 7-106827029-T-C | c.668T>C | p.F223S | Missense | 6/11 | - | 1 |
| 7-106827032-A-G | c.671A>G | p.H224R | Missense | 6/11 | - | 1 |
| 7-106827032-A-T | c.671A>T | p.H224L | Missense | 6/11 | - | 2 |
| 7-106827037-G-A | c.676G>A | p.G226R | Missense | 6/11 | - | 1 |
| 7-106827038-G-A | c.677G>A | p.G226E | Missense | 6/11 | - | 1 |
| 7-106827039-A-C | c.678A>C | p.G226= | Synonymous | 6/11 | - | 1 |
| 7-106827039-A-G | c.678A>G | p.G226= | Synonymous | 6/11 | - | 1 |
| 7-106827039-A-T | c.678A>T | p.G226= | Synonymous | 6/11 | - | 1 |
| 7-106827044-A-G | c.683A>G | p.N228S | Missense | 6/11 | - | 1 |
| 7-106827047-A-G | c.686A>G | p.K229R | Missense | 6/11 | - | 1 |
| 7-106827050-A-T | c.689A>T | p.E230V | Missense | 6/11 | - | 1 |
| 7-106827053-G-A | c.692G>A | p.W231* | Nonsense | 6/11 | - | 1 |
| 7-106827054-G-A | c.693G>A | p.W231* | Nonsense | 6/11 | - | 1 |
| 7-106827056-A-G | c.695A>G | p.Q232R | Missense | 6/11 | - | 1 |
| 7-106827066-A-C | c.705A>C | p.E235D | Missense | 6/11 | - | 1 |
| 7-106827066-A-T | c.705A>T | p.E235D | Missense | 6/11 | - | 2 |
| 7-106827080-C-A | c.719C>A | p.A240D | Missense | 6/11 | - | 1 |
| 7-106827083-A-C | c.722A>C | p.E241A | Missense | 6/11 | - | 1 |
| 7-106827084-A-C | c.723A>C | p.E241D | Missense | 6/11 | - | 1 |
| 7-106827089-G-A | c.728G>A | p.C243Y | Missense | 6/11 | - | 1 |
| 7-106827089-G-C | c.728G>C | p.C243S | Missense | 6/11 | - | 1 |
| 7-106827090-T-G | c.729T>G | p.C243W | Missense | 6/11 | - | 3 |
| 7-106827115-G-C | c.754G>C | p.G252R | Missense | 6/11 | - | 1 |
| 7-106827123-C-A | c.762C>A | p.H254Q | Missense | 6/11 | - | 1 |
| 7-106827124-A-G | c.763A>G | p.K255E | Missense | 6/11 | - | 1 |
| 7-106827125-A-G | c.764A>G | p.K255R | Missense | 6/11 | - | 1 |
| 7-106827130-G-C | c.765+4G>C | - | IntronicSNV | - | 6/10 | 1 |
| 7-106827150-T-A | c.765+24T>A | - | IntronicSNV | - | 6/10 | 1 |
| 7-106827796-A-C | c.765+670A>C | - | IntronicSNV | - | 6/10 | 1 |
| 7-106829747-C-T | c.776C>T | p.S259F | Missense | 7/11 | - | 2 |
| 7-106829767-TC-AG | c.796_797delinsAG | p.S266R | Missense | 7/11 | - | 1 |
| 7-106829776-G-A | c.805G>A | p.E269K | Missense | 7/11 | - | 1 |
| 7-106829776-G-C | c.805G>C | p.E269Q | Missense | 7/11 | - | 1 |
| 7-106829779-A-T | c.808A>T | p.S270C | Missense | 7/11 | - | 3 |
| 7-106829784-A-ACTG | c.813_814insCTG | p.V271_S272insL | InFrameInsertion | 7/11 | - | 1 |
| 7-106829784-A-C | c.813A>C | p.V271= | Synonymous | 7/11 | - | 1 |
| 7-106829789-T-TGTAC | c.818_819insGTAC | p.F273Lfs*12 | Frameshift | 7/11 | - | 1 |
| 7-106829791-G-C | c.820G>C | p.G274R | Missense | 7/11 | - | 3 |
| 7-106829793-C-A | c.822C>A | p.G274= | Synonymous | 7/11 | - | 1 |
| 7-106829793-C-G | c.822C>G | p.G274= | Synonymous | 7/11 | - | 1 |
| 7-106829793-C-T | c.822C>T | p.G274= | Synonymous | 7/11 | - | 2 |
| 7-106829794-G-A | c.823G>A | p.E275K | Missense | 7/11 | - | 2 |
| 7-106829798-C-T | c.827C>T | p.S276F | Missense | 7/11 | - | 2 |
| 7-106829809-T-C | c.838T>C | p.L280= | Synonymous | 7/11 | - | 4 |
| 7-106829809-T-G | c.838T>G | p.L280V | Missense | 7/11 | - | 1 |
| 7-106829811-G-A | c.840G>A | p.L280= | Synonymous | 7/11 | - | 3 |
| 7-106829818-G-A | c.847G>A | p.D283N | Missense | 7/11 | - | 1 |
| 7-106829830-G-C | c.859G>C | p.V287L | Missense | 7/11 | - | 1 |
| 7-106829830-G-T | c.859G>T | p.V287L | Missense | 7/11 | - | 1 |
| 7-106829845-C-T | c.874C>T | p.L292F | Missense | 7/11 | - | 2 |
| 7-106829846-T-G | c.875T>G | p.L292R | Missense | 7/11 | - | 1 |
| 7-106829851-G-A | c.880G>A | p.V294I | Missense | 7/11 | - | 1 |
| 7-106829851-G-C | c.880G>C | p.V294L | Missense | 7/11 | - | 2 |
| 7-106829851-G-T | c.880G>T | p.V294L | Missense | 7/11 | - | 1 |
| 7-106829853-A-C | c.882A>C | p.V294= | Synonymous | 7/11 | - | 1 |
| 7-106829853-A-G | c.882A>G | p.V294= | Synonymous | 7/11 | - | 1 |
| 7-106829853-A-T | c.882A>T | p.V294= | Synonymous | 7/11 | - | 2 |
| 7-106829854-G-C | c.883G>C | p.E295Q | Missense | 7/11 | - | 1 |
| 7-106829856-G-C | c.885G>C | p.E295D | Missense | 7/11 | - | 4 |
| 7-106829868-C-A | c.897C>A | p.D299E | Missense | 7/11 | - | 1 |
| 7-106829868-C-G | c.897C>G | p.D299E | Missense | 7/11 | - | 1 |
| 7-106829872-C-A | c.901C>A | p.P301T | Missense | 7/11 | - | 1 |
| 7-106829873-CT-AA | c.902_903delinsAA | p.P301Q | Missense | 7/11 | - | 1 |
| 7-106829875-T-C | c.904T>C | p.F302L | Missense | 7/11 | - | 1 |
| 7-106829877-C-T | c.906C>T | p.F302= | Synonymous | 7/11 | - | 1 |
| 7-106829886-A-G | c.915A>G | p.K305= | Synonymous | 7/11 | - | 1 |
| 7-106829888-A-G | c.917A>G | p.N306S | Missense | 7/11 | - | 2 |
| 7-106829888-A-AT | c.918dup | p.K307* | Nonsense | 7/11 | - | 1 |
| 7-106830633-TA-T | c.938del | p.Y313Ffs*4 | Frameshift | 8/11 | - | 1 |
| 7-106830635-C-T | c.940C>T | p.P314S | Missense | 8/11 | - | 1 |
| 7-106830637-A-C | c.942A>C | p.P314= | Synonymous | 8/11 | - | 1 |
| 7-106830637-A-G | c.942A>G | p.P314= | Synonymous | 8/11 | - | 2 |
| 7-106830637-A-T | c.942A>T | p.P314= | Synonymous | 8/11 | - | 1 |
| 7-106830641-T-C | c.946T>C | p.L316= | Synonymous | 8/11 | - | 2 |
| 7-106830643-G-A | c.948G>A | p.L316= | Synonymous | 8/11 | - | 1 |
| 7-106830642-T-C | c.947T>C | p.L316S | Missense | 8/11 | - | 2 |
| 7-106830643-G-C | c.948G>C | p.L316F | Missense | 8/11 | - | 1 |
| 7-106830643-G-T | c.948G>T | p.L316F | Missense | 8/11 | - | 1 |
| 7-106830644-A-C | c.949A>C | p.T317P | Missense | 8/11 | - | 1 |
| 7-106830650-G-A | c.955G>A | p.V319I | Missense | 8/11 | - | 1 |
| 7-106830650-G-T | c.955G>T | p.V319L | Missense | 8/11 | - | 1 |
| 7-106830653-C-T | c.958C>T | p.Q320* | Nonsense | 8/11 | - | 1 |
| 7-106830657-A-C | c.962A>C | p.H321P | Missense | 8/11 | - | 1 |
| 7-106830660-G-A | c.965G>A | p.G322D | Missense | 8/11 | - | 1 |
| 7-106830660-G-T | c.965G>T | p.G322V | Missense | 8/11 | - | 2 |
| 7-106830664-T-G | c.969T>G | p.I323M | Missense | 8/11 | - | 3 |
| 7-106830666-C-CA | c.972dup | p.C325Mfs*3 | Frameshift | 8/11 | - | 1 |
| 7-106830670-T-C | c.975T>C | p.C325= | Synonymous | 8/11 | - | 1 |
| 7-106830670-T-G | c.975T>G | p.C325W | Missense | 8/11 | - | 1 |
| 7-106830672-G-T | c.977G>T | p.C326F | Missense | 8/11 | - | 1 |
| 7-106830673-T-C | c.978T>C | p.C326= | Synonymous | 8/11 | - | 1 |
| 7-106830674-G-A | c.979G>A | p.E327K | Missense | 8/11 | - | 1 |
| 7-106830676-A-C | c.981A>C | p.E327D | Missense | 8/11 | - | 3 |
| 7-106830676-A-T | c.981A>T | p.E327D | Missense | 8/11 | - | 2 |
| 7-106830677-G-A | c.982G>A | p.V328I | Missense | 8/11 | - | 1 |
| 7-106830680-C-T | c.985C>T | p.H329Y | Missense | 8/11 | - | 2 |
| 7-106830689-G-A | c.994G>A | p.D332N | Missense | 8/11 | - | 2 |
| 7-106830693-T-C | c.998T>C | p.V333A | Missense | 8/11 | - | 2 |
| 7-106830702-C-T | c.1007C>T | p.P336L | Missense | 8/11 | - | 6 |
| 7-106830713-C-A | c.1018C>A | p.P340T | Missense | 8/11 | - | 6 |
| 7-106830714-C-T | c.1019C>T | p.P340L | Missense | 8/11 | - | 1 |
| 7-106830716-G-A | c.1021G>A | p.D341N | Missense | 8/11 | - | 1 |
| 7-106830728-T-C | c.1033T>C | p.F345L | Missense | 8/11 | - | 1 |
| 7-106830730-T-G | c.1035T>G | p.F345L | Missense | 8/11 | - | 1 |
| 7-106830730-T-A | c.1035T>A | p.F345L | Missense | 8/11 | - | 2 |
| 7-106830734-G-T | c.1039G>T | p.D347Y | Missense | 8/11 | - | 1 |
| 7-106830740-G-A | c.1045G>A | p.G349S | Missense | 8/11 | - | 1 |
| 7-106830740-G-C | c.1045G>C | p.G349R | Missense | 8/11 | - | 1 |
| 7-106830742-T-C | c.1047T>C | p.G349= | Synonymous | 8/11 | - | 1 |
| 7-106830756-T-G | c.1061T>G | p.F354C | Missense | 8/11 | - | 1 |
| 7-106836242-T-C | c.1068-37T>C | - | IntronicSNV | - | 8/10 | 5 |
| 7-106836279-C-G | c.1068C>G | p.S356R | Missense | 9/11 | - | 1 |
| 7-106836293-C-T | c.1082C>T | p.P361L | Missense | 9/11 | - | 3 |
| 7-106836297-G-A | c.1086G>A | p.M362I | Missense | 9/11 | - | 4 |
| 7-106836297-G-C | c.1086G>C | p.M362I | Missense | 9/11 | - | 2 |
| 7-106836297-G-T | c.1086G>T | p.M362I | Missense | 9/11 | - | 2 |
| 7-106836302-C-G | c.1091C>G | p.S364C | Missense | 9/11 | - | 1 |
| 7-106836305-C-T | c.1094C>T | p.S365F | Missense | 9/11 | - | 1 |
| 7-106836307-G-T | c.1096G>T | p.A366S | Missense | 9/11 | - | 1 |
| 7-106836322-AG-TT | c.1111_1112delinsTT | p.S371F | Missense | 9/11 | - | 1 |
| 7-106836325-AG-CT | c.1114_1115inv | p.S372L | Missense | 9/11 | - | 1 |
| 7-106836325-AG-GC | c.1114_1115delinsGC | p.S372A | Missense | 9/11 | - | 1 |
| 7-106836326-G-A | c.1115G>A | p.S372N | Missense | 9/11 | - | 6 |
| 7-106836328-A-C | c.1117A>C | p.M373L | Missense | 9/11 | - | 1 |
| 7-106836328-A-G | c.1117A>G | p.M373V | Missense | 9/11 | - | 3 |
| 7-106836330-G-T | c.1119G>T | p.M373I | Missense | 9/11 | - | 1 |
| 7-106836334-C-T | c.1123C>T | p.R375C | Missense | 9/11 | - | 1 |
| 7-106836335-G-C | c.1124G>C | p.R375P | Missense | 9/11 | - | 5 |
| 7-106836338-A-C | c.1127A>C | p.Q376P | Missense | 9/11 | - | 3 |
| 7-106836343-CG-GC | c.1132_1133delinsGC | p.R378A | Missense | 9/11 | - | 1 |
| 7-106836343-C-T | c.1132C>T | p.R378C | Missense | 9/11 | - | 1 |
| 7-106836349-T-G | c.1138T>G | p.S380A | Missense | 9/11 | - | 2 |
| 7-106836351-T-A | c.1140T>A | p.S380= | Synonymous | 9/11 | - | 1 |
| 7-106836351-T-C | c.1140T>C | p.S380= | Synonymous | 9/11 | - | 1 |
| 7-106836351-T-G | c.1140T>G | p.S380= | Synonymous | 9/11 | - | 1 |
| 7-106836355-TC-AA | c.1144_1145delinsAA | p.S382N | Missense | 9/11 | - | 1 |
| 7-106836358-T-C | c.1147T>C | p.C383R | Missense | 9/11 | - | 1 |
| 7-106836365-G-C | c.1154G>C | p.G385A | Missense | 9/11 | - | 1 |
| 7-106836374-G-A | c.1163G>A | p.G388D | Missense | 9/11 | - | 1 |
| 7-106836376-C-G | c.1165C>G | p.Q389E | Missense | 9/11 | - | 2 |
| 7-106836395-G-A | c.1184G>A | p.G395E | Missense | 9/11 | - | 3 |
| 7-106836404-A-G | c.1193A>G | p.K398R | Missense | 9/11 | - | 2 |
| 7-106836407-A-G | c.1196A>G | p.N399S | Missense | 9/11 | - | 2 |
| 7-106836413-G-A | c.1202G>A | p.G401D | Missense | 9/11 | - | 1 |
| 7-106836436-T-A | c.1225T>A | p.S409T | Missense | 9/11 | - | 4 |
| 7-106836443-A-G | c.1232A>G | p.N411S | Missense | 9/11 | - | 2 |
| 7-106836457-A-C | c.1246A>C | p.K416Q | Missense | 9/11 | - | 1 |
| 7-106836467-A-G | c.1256A>G | p.K419R | Missense | 9/11 | - | 3 |
| 7-106836465-CA-C | c.1259del | p.N420Tfs*7 | Frameshift | 9/11 | - | 3 |
| 7-106836470-A-G | c.1259A>G | p.N420S | Missense | 9/11 | - | 4 |
| 7-106836474-C-T | c.1263C>T | p.H421= | Synonymous | 9/11 | - | 1 |
| 7-106836476-G-A | c.1265G>A | p.S422N | Missense | 9/11 | - | 1 |
| 7-106836478-T-G | c.1267T>G | p.S423A | Missense | 9/11 | - | 1 |
| 7-106836483-G-A | c.1272G>A | p.G424= | Synonymous | 9/11 | - | 2 |
| 7-106836483-G-C | c.1272G>C | p.G424= | Synonymous | 9/11 | - | 1 |
| 7-106836483-G-T | c.1272G>T | p.G424= | Synonymous | 9/11 | - | 1 |
| 7-106836484-A-G | c.1273A>G | p.T425A | Missense | 9/11 | - | 1 |
| 7-106836488-T-C | c.1277T>C | p.V426A | Missense | 9/11 | - | 1 |
| 7-106836495-C-T | c.1284C>T | p.A428= | Synonymous | 9/11 | - | 1 |
| 7-106836497-CT-TG | c.1286_1287delinsTG | p.T429M | Missense | 9/11 | - | 1 |
| 7-106836501-T-A | c.1290T>A | p.S430= | Synonymous | 9/11 | - | 2 |
| 7-106836501-T-C | c.1290T>C | p.S430= | Synonymous | 9/11 | - | 2 |
| 7-106836501-T-G | c.1290T>G | p.S430= | Synonymous | 9/11 | - | 2 |
| 7-106836517-A-G | c.1306A>G | p.R436G | Missense | 9/11 | - | 1 |
| 7-106836521-CA-AT | c.1310_1311delinsAT | p.P437H | Missense | 9/11 | - | 1 |
| 7-106836521-C-T | c.1310C>T | p.P437L | Missense | 9/11 | - | 1 |
| 7-106836523-A-T | c.1312A>T | p.M438L | Missense | 9/11 | - | 1 |
| 7-106836534-TCA-T | c.1323_1324del | p.M442Afs*9 | Frameshift | 9/11 | - | 1 |
| 7-106836545-C-T | c.1334C>T | p.A445V | Missense | 9/11 | - | 1 |
| 7-106836549-A-AT | c.1338_1339insT | p.K447* | Nonsense | 9/11 | - | 1 |
| 7-106836546-CA-C | c.1341del | p.K447Nfs*18 | Frameshift | 9/11 | - | 1 |
| 7-106836546-C-CA | c.1341dup | p.Y448Ifs*4 | Frameshift | 9/11 | - | 1 |
| 7-106836558-A-C | c.1347A>C | p.R449S | Missense | 9/11 | - | 2 |
| 7-106836571-C-G | c.1360C>G | p.Q454E | Missense | 9/11 | - | 2 |
| 7-106836572-A-G | c.1361A>G | p.Q454R | Missense | 9/11 | - | 1 |
| 7-106836581-C-T | c.1370C>T | p.P457L | Missense | 9/11 | - | 2 |
| 7-106836587-A-G | c.1376A>G | p.K459R | Missense | 9/11 | - | 1 |
| 7-106836589-G-A | c.1378G>A | p.D460N | Missense | 9/11 | - | 1 |
| 7-106836591-T-A | c.1380T>A | p.D460E | Missense | 9/11 | - | 2 |
| 7-106836591-T-G | c.1380T>G | p.D460E | Missense | 9/11 | - | 2 |
| 7-106836593-A-G | c.1382A>G | p.N461S | Missense | 9/11 | - | 3 |
| 7-106836702-A-G | c.1385+106A>G | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836707-T-C | c.1385+111T>C | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836726-G-A | c.1385+130G>A | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836745-G-C | c.1385+149G>C | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836748-G-C | c.1385+152G>C | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836753-A-G | c.1385+157A>G | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836756-CCAA-C | c.1385+160_1385+162del | - | IntronicDeletion | - | 9/10 | 1 |
| 7-106836758-A-G | c.1385+162A>G | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836767-C-G | c.1385+171C>G | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836767-C-T | c.1385+171C>T | - | IntronicSNV | - | 9/10 | 1 |
| 7-106836775-A-G | c.1385+179A>G | - | IntronicSNV | - | 9/10 | 1 |
| 7-106837681-G-A | c.1385+1085G>A | - | IntronicSNV | - | 9/10 | 3 |
| 7-106840607-C-G | c.1388C>G | p.A463G | Missense | 10/11 | - | 5 |
| 7-106840620-C-A | c.1401C>A | p.I467= | Synonymous | 10/11 | - | 1 |
| 7-106840628-A-T | c.1409A>T | p.D470V | Missense | 10/11 | - | 1 |
| 7-106840634-G-A | c.1415G>A | p.W472* | Nonsense | 10/11 | - | 2 |
| 7-106840634-G-C | c.1415G>C | p.W472S | Missense | 10/11 | - | 1 |
| 7-106840642-A-G | c.1423A>G | p.M475V | Missense | 10/11 | - | 4 |
| 7-106840646-A-G | c.1427A>G | p.K476R | Missense | 10/11 | - | 1 |
| 7-106840658-G-T | c.1439G>T | p.R480I | Missense | 10/11 | - | 1 |
| 7-106840661-G-T | c.1442G>T | p.R481I | Missense | 10/11 | - | 1 |
| 7-106840660-A-C | c.1441A>C | p.R481= | Synonymous | 10/11 | - | 1 |
| 7-106840662-A-G | c.1443A>G | p.R481= | Synonymous | 10/11 | - | 1 |
| 7-106840663-A-G | c.1444A>G | p.M482V | Missense | 10/11 | - | 1 |
| 7-106840668-C-A | c.1449C>A | p.Y483* | Nonsense | 10/11 | - | 1 |
| 7-106840668-C-G | c.1449C>G | p.Y483* | Nonsense | 10/11 | - | 1 |
| 7-106840668-C-T | c.1449C>T | p.Y483= | Synonymous | 10/11 | - | 2 |
| 7-106840670-CA-TG | c.1451_1452inv | p.T484M | Missense | 10/11 | - | 1 |
| 7-106840693-G-A | c.1474G>A | p.E492K | Missense | 10/11 | - | 1 |
| 7-106840690-GCTGAAGAACAGAAACGTTTAAATC-G | c.1476_1499del | p.E492_P499del | InFrameDeletion | 10/11 | - | 1 |
| 7-106840697-A-G | c.1478A>G | p.E493G | Missense | 10/11 | - | 1 |
| 7-106840703-A-C | c.1484A>C | p.K495T | Missense | 10/11 | - | 5 |
| 7-106840709-T-A | c.1490T>A | p.L497* | Nonsense | 10/11 | - | 1 |
| 7-106840709-T-G | c.1490T>G | p.L497* | Nonsense | 10/11 | - | 1 |
| 7-106840710-A-C | c.1491A>C | p.L497F | Missense | 10/11 | - | 2 |
| 7-106840709-TA-T | c.1493del | p.N498Ifs*25 | Frameshift | 10/11 | - | 1 |
| 7-106840715-C-T | c.1496C>T | p.P499L | Missense | 10/11 | - | 6 |
| 7-106840717-GA-AC | c.1498_1499delinsAC | p.D500T | Missense | 10/11 | - | 1 |
| 7-106840719-C-G | c.1500C>G | p.D500E | Missense | 10/11 | - | 2 |
| 7-106840725-G-A | c.1506G>A | p.W502* | Nonsense | 10/11 | - | 1 |
| 7-106840728-G-C | c.1509G>C | p.K503N | Missense | 10/11 | - | 5 |
| 7-106840728-G-T | c.1509G>T | p.K503N | Missense | 10/11 | - | 1 |
| 7-106840732-A-G | c.1513A>G | p.K505E | Missense | 10/11 | - | 2 |
| 7-106840735-A-G | c.1516A>G | p.R506G | Missense | 10/11 | - | 2 |
| 7-106840741-A-G | c.1522A>G | p.N508D | Missense | 10/11 | - | 2 |
| 7-106840742-A-G | c.1523A>G | p.N508S | Missense | 10/11 | - | 1 |
| 7-106840744-TC-GG | c.1525_1526delinsGG | p.S509G | Missense | 10/11 | - | 1 |
| 7-106840769-T-A | c.1527+23T>A | - | IntronicSNV | - | 10/10 | 1 |
| 7-106841863-C-A | c.1532C>A | p.S511* | Nonsense | 11/11 | - | 1 |
| 7-106841863-C-G | c.1532C>G | p.S511* | Nonsense | 11/11 | - | 3 |
| 7-106841868-C-T | c.1537C>T | p.Q513* | Nonsense | 11/11 | - | 1 |