| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-107384612-G-T | c.4G>T | p.D2Y | Missense | 1/6 | - | 1 |
| 7-107384615-C-T | c.7C>T | p.H3Y | Missense | 1/6 | - | 1 |
| 7-107384849-C-T | c.13+228C>T | - | IntronicSNV | - | 1/5 | 4 |
| 7-107389330-G-A | c.19G>A | p.E7K | Missense | 2/6 | - | 1 |
| 7-107389332-G-C | c.21G>C | p.E7D | Missense | 2/6 | - | 2 |
| 7-107389332-G-T | c.21G>T | p.E7D | Missense | 2/6 | - | 2 |
| 7-107389337-A-G | c.26A>G | p.Q9R | Missense | 2/6 | - | 1 |
| 7-107389344-T-G | c.33T>G | p.T11= | Synonymous | 2/6 | - | 1 |
| 7-107389348-A-G | c.37A>G | p.S13G | Missense | 2/6 | - | 1 |
| 7-107389348-AG-GC | c.37_38delinsGC | p.S13A | Missense | 2/6 | - | 1 |
| 7-107389349-G-A | c.38G>A | p.S13N | Missense | 2/6 | - | 1 |
| 7-107389357-TC-AA | c.46_47delinsAA | p.S16N | Missense | 2/6 | - | 1 |
| 7-107389358-C-T | c.47C>T | p.S16F | Missense | 2/6 | - | 2 |
| 7-107389367-G-C | c.56G>C | p.G19A | Missense | 2/6 | - | 1 |
| 7-107389372-G-T | c.61G>T | p.D21Y | Missense | 2/6 | - | 2 |
| 7-107389376-T-A | c.65T>A | p.V22D | Missense | 2/6 | - | 1 |
| 7-107389379-G-A | c.68G>A | p.R23H | Missense | 2/6 | - | 3 |
| 7-107389384-C-A | c.73C>A | p.R25= | Synonymous | 2/6 | - | 1 |
| 7-107389385-G-A | c.74G>A | p.R25Q | Missense | 2/6 | - | 6 |
| 7-107389390-C-T | c.79C>T | p.P27S | Missense | 2/6 | - | 5 |
| 7-107389398-G-A | c.87G>A | p.K29= | Synonymous | 2/6 | - | 1 |
| 7-107389401-C-T | c.90C>T | p.L30= | Synonymous | 2/6 | - | 2 |
| 7-107389402-A-T | c.91A>T | p.I31F | Missense | 2/6 | - | 1 |
| 7-107389421-A-G | c.110A>G | p.K37R | Missense | 2/6 | - | 1 |
| 7-107389424-C-T | c.113C>T | p.A38V | Missense | 2/6 | - | 4 |
| 7-107389430-C-T | c.119C>T | p.P40L | Missense | 2/6 | - | 1 |
| 7-107389438-C-A | c.127C>A | p.R43= | Synonymous | 2/6 | - | 1 |
| 7-107389440-A-C | c.129A>C | p.R43= | Synonymous | 2/6 | - | 1 |
| 7-107389440-A-G | c.129A>G | p.R43= | Synonymous | 2/6 | - | 1 |
| 7-107389440-A-T | c.129A>T | p.R43= | Synonymous | 2/6 | - | 2 |
| 7-107389441-A-C | c.130A>C | p.T44P | Missense | 2/6 | - | 1 |
| 7-107389444-C-A | c.133C>A | p.Q45K | Missense | 2/6 | - | 1 |
| 7-107389448-G-A | c.137G>A | p.R46K | Missense | 2/6 | - | 1 |
| 7-107389448-G-T | c.137G>T | p.R46I | Missense | 2/6 | - | 1 |
| 7-107389450-AC-GA | c.139_140delinsGA | p.T47D | Missense | 2/6 | - | 2 |
| 7-107389451-C-A | c.140C>A | p.T47N | Missense | 2/6 | - | 3 |
| 7-107389456-A-C | c.145A>C | p.N49H | Missense | 2/6 | - | 1 |
| 7-107389461-G-C | c.150G>C | p.R50S | Missense | 2/6 | - | 2 |
| 7-107389461-G-T | c.150G>T | p.R50S | Missense | 2/6 | - | 1 |
| 7-107389477-C-T | c.166C>T | p.P56S | Missense | 2/6 | - | 1 |
| 7-107389486-G-C | c.175G>C | p.D59H | Missense | 2/6 | - | 1 |
| 7-107389488-T-A | c.177T>A | p.D59E | Missense | 2/6 | - | 1 |
| 7-107389488-T-G | c.177T>G | p.D59E | Missense | 2/6 | - | 1 |
| 7-107389979-C-T | c.181+487C>T | - | IntronicSNV | - | 2/5 | 1 |
| 7-107390163-T-A | c.181+671T>A | - | IntronicSNV | - | 2/5 | 1 |
| 7-107392889-C-CTG | c.182-966_182-965insGT | - | IntronicInsertion | - | 2/5 | 1 |
| 7-107392891-C-G | c.182-965C>G | - | IntronicSNV | - | 2/5 | 1 |
| 7-107393859-G-A | c.185G>A | p.G62E | Missense | 3/6 | - | 1 |
| 7-107393862-T-G | c.188T>G | p.F63C | Missense | 3/6 | - | 1 |
| 7-107393864-G-A | c.190G>A | p.D64N | Missense | 3/6 | - | 1 |
| 7-107393864-G-T | c.190G>T | p.D64Y | Missense | 3/6 | - | 1 |
| 7-107393876-G-C | c.202G>C | p.E68Q | Missense | 3/6 | - | 2 |
| 7-107393876-G-T | c.202G>T | p.E68* | Nonsense | 3/6 | - | 1 |
| 7-107393883-G-A | c.209G>A | p.R70Q | Missense | 3/6 | - | 1 |
| 7-107393887-T-A | c.213T>A | p.Y71* | Nonsense | 3/6 | - | 1 |
| 7-107393901-G-T | c.227G>T | p.G76V | Missense | 3/6 | - | 1 |
| 7-107393904-A-G | c.230A>G | p.E77G | Missense | 3/6 | - | 1 |
| 7-107393906-C-A | c.232C>A | p.L78M | Missense | 3/6 | - | 1 |
| 7-107393906-C-G | c.232C>G | p.L78V | Missense | 3/6 | - | 1 |
| 7-107393915-A-G | c.241A>G | p.N81D | Missense | 3/6 | - | 1 |
| 7-107393915-A-T | c.241A>T | p.N81Y | Missense | 3/6 | - | 2 |
| 7-107393922-G-A | c.248G>A | p.R83Q | Missense | 3/6 | - | 1 |
| 7-107393925-G-T | c.251G>T | p.R84I | Missense | 3/6 | - | 2 |
| 7-107393930-C-T | c.256C>T | p.P86S | Missense | 3/6 | - | 5 |
| 7-107393936-C-A | c.262C>A | p.H88N | Missense | 3/6 | - | 1 |
| 7-107393937-CA-C | c.263del | p.H88Pfs*8 | Frameshift | 3/6 | - | 1 |
| 7-107393942-T-A | c.268T>A | p.F90I | Missense | 3/6 | - | 3 |
| 7-107393939-C-CT | c.271dup | p.W91Lfs*10 | Frameshift | 3/6 | - | 1 |
| 7-107393947-G-C | c.273G>C | p.W91C | Missense | 3/6 | - | 1 |
| 7-107393947-G-T | c.273G>T | p.W91C | Missense | 3/6 | - | 1 |
| 7-107393951-T-G | c.277T>G | p.F93V | Missense | 3/6 | - | 2 |
| 7-107393954-C-G | c.280C>G | p.Q94E | Missense | 3/6 | - | 1 |
| 7-107394361-G-A | c.304G>A | p.D102N | Missense | 4/6 | - | 1 |
| 7-107394368-C-A | c.311C>A | p.T104K | Missense | 4/6 | - | 1 |
| 7-107394373-G-T | c.316G>T | p.V106F | Missense | 4/6 | - | 2 |
| 7-107394376-C-A | c.319C>A | p.H107N | Missense | 4/6 | - | 1 |
| 7-107394413-A-C | c.356A>C | p.Y119S | Missense | 4/6 | - | 1 |
| 7-107394415-G-A | c.358G>A | p.G120R | Missense | 4/6 | - | 1 |
| 7-107395865-T-TC | c.371dup | p.C125Mfs*8 | Frameshift | 5/6 | - | 1 |
| 7-107395874-G-A | c.378G>A | p.K126= | Synonymous | 5/6 | - | 1 |
| 7-107395875-C-T | c.379C>T | p.H127Y | Missense | 5/6 | - | 1 |
| 7-107395878-G-GT | c.388dup | p.C130Lfs*3 | Frameshift | 5/6 | - | 1 |
| 7-107395888-A-T | c.392A>T | p.Y131F | Missense | 5/6 | - | 1 |
| 7-107395906-A-G | c.410A>G | p.H137R | Missense | 5/6 | - | 2 |
| 7-107395906-A-AT | c.411dup | p.E138* | Nonsense | 5/6 | - | 1 |
| 7-107395911-A-C | c.415A>C | p.K139Q | Missense | 5/6 | - | 1 |
| 7-107395912-A-C | c.416A>C | p.K139T | Missense | 5/6 | - | 2 |
| 7-107395914-A-C | c.418A>C | p.K140Q | Missense | 5/6 | - | 1 |
| 7-107395908-GA-G | c.419del | p.K140Rfs*52 | Frameshift | 5/6 | - | 3 |
| 7-107395915-A-G | c.419A>G | p.K140R | Missense | 5/6 | - | 1 |
| 7-107395924-A-T | c.428A>T | p.K143M | Missense | 5/6 | - | 2 |
| 7-107395925-G-C | c.429G>C | p.K143N | Missense | 5/6 | - | 1 |
| 7-107395925-G-T | c.429G>T | p.K143N | Missense | 5/6 | - | 1 |
| 7-107395930-G-T | c.434G>T | p.C145F | Missense | 5/6 | - | 1 |
| 7-107396232-A-G | c.440+296A>G | - | IntronicSNV | - | 5/5 | 2 |
| 7-107396941-A-G | c.440+1005A>G | - | IntronicSNV | - | 5/5 | 1 |
| 7-107398607-CGA-TGG | c.460_462delinsTGG | p.R154W | Missense | 6/6 | - | 1 |
| 7-107398607-C-T | c.460C>T | p.R154* | Nonsense | 6/6 | - | 1 |
| 7-107398608-G-A | c.461G>A | p.R154Q | Missense | 6/6 | - | 2 |
| 7-107398609-A-G | c.462A>G | p.R154= | Synonymous | 6/6 | - | 1 |
| 7-107398612-T-G | c.465T>G | p.I155M | Missense | 6/6 | - | 3 |
| 7-107398618-G-C | c.471G>C | p.Q157H | Missense | 6/6 | - | 1 |
| 7-107398618-G-T | c.471G>T | p.Q157H | Missense | 6/6 | - | 1 |
| 7-107398620-G-T | c.473G>T | p.C158F | Missense | 6/6 | - | 1 |
| 7-107398623-C-T | c.476C>T | p.T159I | Missense | 6/6 | - | 1 |
| 7-107398625-CG-AA | c.478_479delinsAA | p.R160K | Missense | 6/6 | - | 1 |
| 7-107398626-G-A | c.479G>A | p.R160Q | Missense | 6/6 | - | 1 |
| 7-107398628-G-C | c.481G>C | p.G161R | Missense | 6/6 | - | 1 |
| 7-107398629-GT-AG | c.482_483delinsAG | p.G161E | Missense | 6/6 | - | 1 |
| 7-107398632-C-T | c.485C>T | p.S162F | Missense | 6/6 | - | 2 |
| 7-107398634-C-T | c.487C>T | p.L163F | Missense | 6/6 | - | 2 |
| 7-107398636-C-A | c.489C>A | p.L163= | Synonymous | 6/6 | - | 1 |
| 7-107398636-C-G | c.489C>G | p.L163= | Synonymous | 6/6 | - | 1 |
| 7-107398636-C-T | c.489C>T | p.L163= | Synonymous | 6/6 | - | 2 |
| 7-107398639-C-T | c.492C>T | p.F164= | Synonymous | 6/6 | - | 1 |
| 7-107398642-G-A | c.495G>A | p.M165I | Missense | 6/6 | - | 1 |
| 7-107398642-G-C | c.495G>C | p.M165I | Missense | 6/6 | - | 1 |
| 7-107398642-G-T | c.495G>T | p.M165I | Missense | 6/6 | - | 1 |
| 7-107398651-T-G | c.504T>G | p.I168M | Missense | 6/6 | - | 1 |
| 7-107398661-TG-AC | c.514_515delinsAC | p.C172T | Missense | 6/6 | - | 1 |
| 7-107398664-A-G | c.517A>G | p.K173E | Missense | 6/6 | - | 1 |
| 7-107398668-G-A | c.521G>A | p.R174K | Missense | 6/6 | - | 2 |
| 7-107398671-C-T | c.524C>T | p.T175I | Missense | 6/6 | - | 1 |
| 7-107398678-G-A | c.531G>A | p.L177= | Synonymous | 6/6 | - | 1 |
| 7-107398678-G-C | c.531G>C | p.L177F | Missense | 6/6 | - | 2 |
| 7-107398678-G-T | c.531G>T | p.L177F | Missense | 6/6 | - | 3 |
| 7-107398691-T-C | c.544T>C | p.L182= | Synonymous | 6/6 | - | 1 |
| 7-107398693-A-G | c.546A>G | p.L182= | Synonymous | 6/6 | - | 1 |
| 7-107398695-A-G | c.548A>G | p.Q183R | Missense | 6/6 | - | 1 |
| 7-107398707-A-G | c.560A>G | p.N187S | Missense | 6/6 | - | 1 |
| 7-107398709-C-T | c.562C>T | p.H188Y | Missense | 6/6 | - | 1 |
| 7-107398711-T-C | c.564T>C | p.H188= | Synonymous | 6/6 | - | 2 |
| 7-107398712-C-T | c.565C>T | p.R189C | Missense | 6/6 | - | 2 |
| 7-107398713-G-A | c.566G>A | p.R189H | Missense | 6/6 | - | 2 |
| 7-107398714-C-A | c.567C>A | p.R189= | Synonymous | 6/6 | - | 1 |
| 7-107398714-C-G | c.567C>G | p.R189= | Synonymous | 6/6 | - | 1 |
| 7-107398714-C-T | c.567C>T | p.R189= | Synonymous | 6/6 | - | 2 |
| 7-107398715-C-T | c.568C>T | p.H190Y | Missense | 6/6 | - | 1 |
| 7-107398718-A-G | c.571A>G | p.M191V | Missense | 6/6 | - | 2 |
| 7-107398741-C-T | c.594C>T | p.T198= | Synonymous | 6/6 | - | 1 |
| 7-107398742-C-T | c.595C>T | p.R199C | Missense | 6/6 | - | 1 |
| 7-107398750-A-C | c.603A>C | p.S201= | Synonymous | 6/6 | - | 1 |
| 7-107398750-A-G | c.603A>G | p.S201= | Synonymous | 6/6 | - | 1 |
| 7-107398750-A-T | c.603A>T | p.S201= | Synonymous | 6/6 | - | 1 |
| 7-107398754-G-A | c.607G>A | p.E203K | Missense | 6/6 | - | 3 |
| 7-107398758-A-G | c.611A>G | p.N204S | Missense | 6/6 | - | 2 |
| 7-107398763-C-T | c.616C>T | p.H206Y | Missense | 6/6 | - | 1 |
| 7-107398767-C-T | c.620C>T | p.P207L | Missense | 6/6 | - | 1 |
| 7-107398767-C-CT | c.621dup | p.P208Sfs*8 | Frameshift | 6/6 | - | 1 |
| 7-107398769-C-G | c.622C>G | p.P208A | Missense | 6/6 | - | 1 |
| 7-107398770-C-T | c.623C>T | p.P208L | Missense | 6/6 | - | 3 |
| 7-107398770-C-CT | c.624dup | p.I209Yfs*7 | Frameshift | 6/6 | - | 2 |
| 7-107398782-C-T | c.635C>T | p.P212L | Missense | 6/6 | - | 1 |
| 7-107398785-C-T | c.638C>T | p.P213L | Missense | 6/6 | - | 3 |
| 7-107398799-G-C | c.652G>C | p.E218Q | Missense | 6/6 | - | 2 |
| 7-107398801-G-A | c.654G>A | p.E218= | Synonymous | 6/6 | - | 1 |
| 7-107398802-C-T | c.655C>T | p.R219C | Missense | 6/6 | - | 2 |
| 7-107398803-G-A | c.656G>A | p.R219H | Missense | 6/6 | - | 1 |
| 7-107398814-C-T | c.667C>T | p.P223S | Missense | 6/6 | - | 2 |
| 7-107398822-C-G | c.675C>G | p.D225E | Missense | 6/6 | - | 1 |
| 7-107398822-C-T | c.675C>T | p.D225= | Synonymous | 6/6 | - | 1 |
| 7-107398824-A-G | c.677A>G | p.K226R | Missense | 6/6 | - | 1 |
| 7-107398828-C-G | c.681C>G | p.H227Q | Missense | 6/6 | - | 1 |
| 7-107398829-C-G | c.682C>G | p.H228D | Missense | 6/6 | - | 1 |
| 7-107398830-A-G | c.683A>G | p.H228R | Missense | 6/6 | - | 2 |
| 7-107398835-AGCCATATTCCGCCAAAGCAGCACATCATGATGCCACCACCTCCTTT-A | c.691_736del | p.H231Nfs*47 | Frameshift | 6/6 | - | 1 |
| 7-107398840-T-C | c.693T>C | p.H231= | Synonymous | 6/6 | - | 1 |
| 7-107398843-T-A | c.696T>A | p.I232= | Synonymous | 6/6 | - | 1 |
| 7-107398843-T-C | c.696T>C | p.I232= | Synonymous | 6/6 | - | 1 |
| 7-107398844-C-G | c.697C>G | p.P233A | Missense | 6/6 | - | 1 |
| 7-107398844-C-T | c.697C>T | p.P233S | Missense | 6/6 | - | 1 |
| 7-107398857-A-G | c.710A>G | p.H237R | Missense | 6/6 | - | 3 |
| 7-107398862-A-G | c.715A>G | p.M239V | Missense | 6/6 | - | 1 |
| 7-107398869-C-T | c.722C>T | p.P241L | Missense | 6/6 | - | 1 |
| 7-107398873-A-C | c.726A>C | p.P242= | Synonymous | 6/6 | - | 1 |
| 7-107398873-A-G | c.726A>G | p.P242= | Synonymous | 6/6 | - | 2 |
| 7-107398877-C-T | c.730C>T | p.P244S | Missense | 6/6 | - | 1 |
| 7-107398880-T-C | c.733T>C | p.L245= | Synonymous | 6/6 | - | 1 |
| 7-107398885-A-G | c.738A>G | p.Q246= | Synonymous | 6/6 | - | 2 |
| 7-107398893-C-A | c.746C>A | p.P249Q | Missense | 6/6 | - | 1 |
| 7-107398901-C-T | c.754C>T | p.H252Y | Missense | 6/6 | - | 1 |
| 7-107398906-T-C | c.759T>C | p.Y253= | Synonymous | 6/6 | - | 1 |
| 7-107398913-C-T | c.766C>T | p.P256S | Missense | 6/6 | - | 2 |
| 7-107398914-C-T | c.767C>T | p.P256L | Missense | 6/6 | - | 1 |
| 7-107398917-A-G | c.770A>G | p.H257R | Missense | 6/6 | - | 2 |
| 7-107398921-G-A | c.774G>A | p.E258= | Synonymous | 6/6 | - | 2 |
| 7-107398922-G-A | c.775G>A | p.D259N | Missense | 6/6 | - | 4 |
| 7-107398928-CGT-AAG | c.781_783delinsAAG | p.R261K | Missense | 6/6 | - | 1 |
| 7-107398934-C-T | c.787C>T | p.P263S | Missense | 6/6 | - | 3 |
| 7-107398931-GCTC-G | c.789_791del | p.P264del | InFrameDeletion | 6/6 | - | 1 |
| 7-107398936-T-A | c.789T>A | p.P263= | Synonymous | 6/6 | - | 1 |
| 7-107398936-T-C | c.789T>C | p.P263= | Synonymous | 6/6 | - | 1 |
| 7-107398936-T-G | c.789T>G | p.P263= | Synonymous | 6/6 | - | 1 |
| 7-107398938-C-T | c.791C>T | p.P264L | Missense | 6/6 | - | 1 |
| 7-107398939-A-G | c.792A>G | p.P264= | Synonymous | 6/6 | - | 1 |
| 7-107398944-A-C | c.797A>C | p.E266A | Missense | 6/6 | - | 1 |
| 7-107398950-C-T | c.803C>T | p.S268F | Missense | 6/6 | - | 1 |
| 7-107398953-T-C | c.806T>C | p.M269T | Missense | 6/6 | - | 1 |
| 7-107398960-A-C | c.813A>C | p.P271= | Synonymous | 6/6 | - | 1 |
| 7-107398960-A-G | c.813A>G | p.P271= | Synonymous | 6/6 | - | 1 |
| 7-107398960-A-T | c.813A>T | p.P271= | Synonymous | 6/6 | - | 1 |
| 7-107398961-C-T | c.814C>T | p.P272S | Missense | 6/6 | - | 1 |
| 7-107398962-C-T | c.815C>T | p.P272L | Missense | 6/6 | - | 1 |
| 7-107398970-C-T | c.823C>T | p.R275* | Nonsense | 6/6 | - | 3 |
| 7-107398972-A-T | c.825A>T | p.R275= | Synonymous | 6/6 | - | 1 |
| 7-107398974-C-T | c.827C>T | p.S276L | Missense | 6/6 | - | 1 |
| 7-107398977-T-C | c.830T>C | p.V277A | Missense | 6/6 | - | 1 |
| 7-107398978-C-T | c.831C>T | p.V277= | Synonymous | 6/6 | - | 1 |
| 7-107398980-G-A | c.833G>A | p.S278N | Missense | 6/6 | - | 1 |
| 7-107398982-C-T | c.835C>T | p.Q279* | Nonsense | 6/6 | - | 6 |
| 7-107398983-A-G | c.836A>G | p.Q279R | Missense | 6/6 | - | 1 |
| 7-107398984-G-T | c.837G>T | p.Q279H | Missense | 6/6 | - | 1 |
| 7-107398990-C-T | c.843C>T | p.T281= | Synonymous | 6/6 | - | 2 |
| 7-107398994-CG-GC | c.847_848delinsGC | p.R283A | Missense | 6/6 | - | 1 |
| 7-107398997-A-G | c.850A>G | p.I284V | Missense | 6/6 | - | 1 |
| 7-107399001-C-T | c.854C>T | p.S285L | Missense | 6/6 | - | 2 |
| 7-107399015-A-T | c.868A>T | p.S290C | Missense | 6/6 | - | 1 |
| 7-107399029-C-A | c.882C>A | p.T294= | Synonymous | 6/6 | - | 2 |
| 7-107399029-C-G | c.882C>G | p.T294= | Synonymous | 6/6 | - | 2 |
| 7-107399029-C-T | c.882C>T | p.T294= | Synonymous | 6/6 | - | 2 |
| 7-107399032-C-T | c.885C>T | p.V295= | Synonymous | 6/6 | - | 1 |
| 7-107399033-C-T | c.886C>T | p.P296S | Missense | 6/6 | - | 2 |
| 7-107399034-C-T | c.887C>T | p.P296L | Missense | 6/6 | - | 1 |
| 7-107399035-T-A | c.888T>A | p.P296= | Synonymous | 6/6 | - | 1 |
| 7-107399035-T-C | c.888T>C | p.P296= | Synonymous | 6/6 | - | 1 |
| 7-107399035-T-G | c.888T>G | p.P296= | Synonymous | 6/6 | - | 1 |
| 7-107399052-A-G | c.905A>G | p.N302S | Missense | 6/6 | - | 2 |
| 7-107399063-A-G | c.916A>G | p.R306G | Missense | 6/6 | - | 1 |
| 7-107399064-G-C | c.917G>C | p.R306T | Missense | 6/6 | - | 1 |
| 7-107399070-C-T | c.923C>T | p.P308L | Missense | 6/6 | - | 1 |
| 7-107399075-C-A | c.928C>A | p.P310T | Missense | 6/6 | - | 1 |
| 7-107399078-C-T | c.931C>T | p.P311S | Missense | 6/6 | - | 1 |
| 7-107399082-C-T | c.935C>T | p.A312V | Missense | 6/6 | - | 1 |
| 7-107399083-C-A | c.936C>A | p.A312= | Synonymous | 6/6 | - | 1 |
| 7-107399083-C-G | c.936C>G | p.A312= | Synonymous | 6/6 | - | 1 |
| 7-107399083-C-T | c.936C>T | p.A312= | Synonymous | 6/6 | - | 1 |
| 7-107399084-C-T | c.937C>T | p.P313S | Missense | 6/6 | - | 1 |
| 7-107399096-C-T | c.949C>T | p.H317Y | Missense | 6/6 | - | 1 |
| 7-107399098-C-T | c.951C>T | p.H317= | Synonymous | 6/6 | - | 1 |
| 7-107399101-T-C | c.954T>C | p.H318= | Synonymous | 6/6 | - | 1 |
| 7-107399103-A-C | c.956A>C | p.H319P | Missense | 6/6 | - | 1 |
| 7-107399105-C-T | c.958C>T | p.P320S | Missense | 6/6 | - | 2 |
| 7-107399107-T-A | c.960T>A | p.P320= | Synonymous | 6/6 | - | 1 |
| 7-107399107-T-C | c.960T>C | p.P320= | Synonymous | 6/6 | - | 1 |
| 7-107399107-T-G | c.960T>G | p.P320= | Synonymous | 6/6 | - | 1 |
| 7-107399132-T-G | c.985T>G | p.S329A | Missense | 6/6 | - | 2 |
| 7-107399133-C-T | c.986C>T | p.S329L | Missense | 6/6 | - | 6 |
| 7-107399134-G-A | c.987G>A | p.S329= | Synonymous | 6/6 | - | 5 |
| 7-107399134-G-C | c.987G>C | p.S329= | Synonymous | 6/6 | - | 1 |
| 7-107399134-G-T | c.987G>T | p.S329= | Synonymous | 6/6 | - | 3 |
| 7-107399139-C-A | c.992C>A | p.P331H | Missense | 6/6 | - | 1 |
| 7-107399139-C-T | c.992C>T | p.P331L | Missense | 6/6 | - | 1 |
| 7-107399139-CT-AA | c.992_993delinsAA | p.P331Q | Missense | 6/6 | - | 1 |
| 7-107399170-T-C | c.1023T>C | p.Y341= | Synonymous | 6/6 | - | 2 |
| 7-107399172-C-T | c.1025C>T | p.A342V | Missense | 6/6 | - | 1 |
| 7-107399174-C-T | c.1027C>T | p.P343S | Missense | 6/6 | - | 2 |
| 7-107399179-C-A | c.1032C>A | p.P344= | Synonymous | 6/6 | - | 1 |
| 7-107399179-C-G | c.1032C>G | p.P344= | Synonymous | 6/6 | - | 1 |
| 7-107399179-C-T | c.1032C>T | p.P344= | Synonymous | 6/6 | - | 1 |
| 7-107399180-C-G | c.1033C>G | p.P345A | Missense | 6/6 | - | 1 |
| 7-107399176-AC-A | c.1034del | p.P345Hfs*7 | Frameshift | 6/6 | - | 1 |
| 7-107399182-A-C | c.1035A>C | p.P345= | Synonymous | 6/6 | - | 3 |
| 7-107399182-A-G | c.1035A>G | p.P345= | Synonymous | 6/6 | - | 2 |
| 7-107399182-A-T | c.1035A>T | p.P345= | Synonymous | 6/6 | - | 2 |
| 7-107399185-T-A | c.1038T>A | p.P346= | Synonymous | 6/6 | - | 1 |
| 7-107399186-C-T | c.1039C>T | p.P347S | Missense | 6/6 | - | 1 |
| 7-107399188-T-A | c.1041T>A | p.P347= | Synonymous | 6/6 | - | 2 |
| 7-107399188-T-C | c.1041T>C | p.P347= | Synonymous | 6/6 | - | 2 |
| 7-107399188-T-G | c.1041T>G | p.P347= | Synonymous | 6/6 | - | 2 |
| 7-107399189-C-T | c.1042C>T | p.P348S | Missense | 6/6 | - | 2 |
| 7-107399191-A-C | c.1044A>C | p.P348= | Synonymous | 6/6 | - | 2 |
| 7-107399191-A-G | c.1044A>G | p.P348= | Synonymous | 6/6 | - | 2 |
| 7-107399191-A-T | c.1044A>T | p.P348= | Synonymous | 6/6 | - | 2 |
| 7-107399194-A-C | c.1047A>C | p.P349= | Synonymous | 6/6 | - | 1 |
| 7-107399194-A-G | c.1047A>G | p.P349= | Synonymous | 6/6 | - | 1 |
| 7-107399194-A-T | c.1047A>T | p.P349= | Synonymous | 6/6 | - | 1 |
| 7-107399201-A-C | c.1054A>C | p.S352R | Missense | 6/6 | - | 1 |
| 7-107399203-C-A | c.1056C>A | p.S352R | Missense | 6/6 | - | 1 |
| 7-107399203-C-G | c.1056C>G | p.S352R | Missense | 6/6 | - | 1 |
| 7-107399209-A-G | c.1062A>G | p.P354= | Synonymous | 6/6 | - | 3 |
| 7-107399210-A-G | c.1063A>G | p.M355V | Missense | 6/6 | - | 1 |
| 7-107399213-C-T | c.1066C>T | p.P356S | Missense | 6/6 | - | 3 |
| 7-107399218-T-C | c.1071T>C | p.H357= | Synonymous | 6/6 | - | 3 |
| 7-107399220-C-T | c.1073C>T | p.P358L | Missense | 6/6 | - | 2 |
| 7-107399220-CT-AA | c.1073_1074delinsAA | p.P358Q | Missense | 6/6 | - | 1 |
| 7-107399223-C-T | c.1076C>T | p.P359L | Missense | 6/6 | - | 1 |
| 7-107399228-G-A | c.1081G>A | p.A361T | Missense | 6/6 | - | 3 |
| 7-107399234-G-T | c.1087G>T | p.G363C | Missense | 6/6 | - | 1 |
| 7-107399235-G-T | c.1088G>T | p.G363V | Missense | 6/6 | - | 1 |
| 7-107399240-C-T | c.1093C>T | p.P365S | Missense | 6/6 | - | 5 |
| 7-107399243-C-T | c.1096C>T | p.H366Y | Missense | 6/6 | - | 7 |
| 7-107399244-A-T | c.1097A>T | p.H366L | Missense | 6/6 | - | 1 |
| 7-107399245-C-T | c.1098C>T | p.H366= | Synonymous | 6/6 | - | 1 |
| 7-107399248-G-A | c.1101G>A | p.L367= | Synonymous | 6/6 | - | 1 |
| 7-107399250-T-C | c.1103T>C | p.V368A | Missense | 6/6 | - | 1 |
| 7-107399261-G-A | c.1114G>A | p.A372T | Missense | 6/6 | - | 1 |
| 7-107399263-T-G | c.1116T>G | p.A372= | Synonymous | 6/6 | - | 2 |
| 7-107399266-A-G | c.1119A>G | p.P373= | Synonymous | 6/6 | - | 1 |
| 7-107399273-C-T | c.1126C>T | p.P376S | Missense | 6/6 | - | 1 |
| 7-107399274-C-T | c.1127C>T | p.P376L | Missense | 6/6 | - | 2 |
| 7-107399278-G-A | c.1131G>A | p.M377I | Missense | 6/6 | - | 1 |
| 7-107399280-C-T | c.1133C>T | p.T378I | Missense | 6/6 | - | 3 |
| 7-107399293-A-C | c.1146A>C | p.P382= | Synonymous | 6/6 | - | 2 |
| 7-107399293-A-G | c.1146A>G | p.P382= | Synonymous | 6/6 | - | 2 |
| 7-107399293-A-T | c.1146A>T | p.P382= | Synonymous | 6/6 | - | 2 |
| 7-107399297-A-G | c.1150A>G | p.I384V | Missense | 6/6 | - | 2 |
| 7-107399303-C-T | c.1156C>T | p.P386S | Missense | 6/6 | - | 1 |
| 7-107399307-C-T | c.1160C>T | p.P387L | Missense | 6/6 | - | 2 |
| 7-107399309-C-T | c.1162C>T | p.P388S | Missense | 6/6 | - | 3 |
| 7-107399325-C-T | c.1178C>T | p.A393V | Missense | 6/6 | - | 2 |
| 7-107399329-G-A | c.1182G>A | p.Q394= | Synonymous | 6/6 | - | 1 |
| 7-107399351-C-A | c.1204C>A | p.P402T | Missense | 6/6 | - | 1 |
| 7-107399365-T-A | c.1218T>A | p.P406= | Synonymous | 6/6 | - | 3 |
| 7-107399365-T-C | c.1218T>C | p.P406= | Synonymous | 6/6 | - | 3 |
| 7-107399365-T-G | c.1218T>G | p.P406= | Synonymous | 6/6 | - | 3 |
| 7-107399366-C-G | c.1219C>G | p.P407A | Missense | 6/6 | - | 1 |
| 7-107399368-C-A | c.1221C>A | p.P407= | Synonymous | 6/6 | - | 2 |
| 7-107399368-C-G | c.1221C>G | p.P407= | Synonymous | 6/6 | - | 2 |
| 7-107399368-C-T | c.1221C>T | p.P407= | Synonymous | 6/6 | - | 2 |
| 7-107399371-A-C | c.1224A>C | p.P408= | Synonymous | 6/6 | - | 1 |
| 7-107399371-A-G | c.1224A>G | p.P408= | Synonymous | 6/6 | - | 1 |
| 7-107399371-A-T | c.1224A>T | p.P408= | Synonymous | 6/6 | - | 1 |
| 7-107399376-A-C | c.1229A>C | p.Q410P | Missense | 6/6 | - | 1 |
| 7-107399377-A-C | c.1230A>C | p.Q410H | Missense | 6/6 | - | 1 |
| 7-107399377-A-T | c.1230A>T | p.Q410H | Missense | 6/6 | - | 1 |
| 7-107399379-A-G | c.1232A>G | p.H411R | Missense | 6/6 | - | 1 |
| 7-107399382-G-A | c.1235G>A | p.G412D | Missense | 6/6 | - | 2 |
| 7-107399389-A-C | c.1242A>C | p.P414= | Synonymous | 6/6 | - | 1 |
| 7-107399389-A-G | c.1242A>G | p.P414= | Synonymous | 6/6 | - | 1 |
| 7-107399389-A-T | c.1242A>T | p.P414= | Synonymous | 6/6 | - | 1 |
| 7-107399390-C-T | c.1243C>T | p.P415S | Missense | 6/6 | - | 1 |
| 7-107399392-T-A | c.1245T>A | p.P415= | Synonymous | 6/6 | - | 1 |
| 7-107399392-T-C | c.1245T>C | p.P415= | Synonymous | 6/6 | - | 1 |
| 7-107399392-T-G | c.1245T>G | p.P415= | Synonymous | 6/6 | - | 1 |
| 7-107399393-G-T | c.1246G>T | p.V416L | Missense | 6/6 | - | 1 |
| 7-107399399-G-T | c.1252G>T | p.A418S | Missense | 6/6 | - | 1 |
| 7-107399401-AC-A | c.1259del | p.P420Lfs*20 | Frameshift | 6/6 | - | 2 |
| 7-107399409-C-T | c.1262C>T | p.P421L | Missense | 6/6 | - | 1 |
| 7-107399414-C-T | c.1267C>T | p.H423Y | Missense | 6/6 | - | 1 |
| 7-107399418-A-T | c.1271A>T | p.Y424F | Missense | 6/6 | - | 1 |
| 7-107399420-A-G | c.1273A>G | p.N425D | Missense | 6/6 | - | 2 |
| 7-107399438-C-T | c.1291C>T | p.Q431* | Nonsense | 6/6 | - | 4 |
| 7-107399447-G-A | c.1300G>A | p.E434K | Missense | 6/6 | - | 1 |
| 7-107399449-A-C | c.1302A>C | p.E434D | Missense | 6/6 | - | 1 |
| 7-107399449-A-T | c.1302A>T | p.E434D | Missense | 6/6 | - | 1 |
| 7-107399453-C-T | c.1306C>T | p.Q436* | Nonsense | 6/6 | - | 1 |
| 7-107399456-G-T | c.1309G>T | p.G437* | Nonsense | 6/6 | - | 1 |
| 7-107399468-C-T | c.1321C>T | p.P441S | Missense | 6/6 | - | 4 |
| 7-107399486-G-A | c.1339G>A | p.G447R | Missense | 6/6 | - | 1 |
| 7-107399486-G-C | c.1339G>C | p.G447R | Missense | 6/6 | - | 1 |
| 7-107399489-G-A | c.1342G>A | p.G448R | Missense | 6/6 | - | 4 |
| 7-107399489-G-C | c.1342G>C | p.G448R | Missense | 6/6 | - | 1 |
| 7-107399498-CCT-TAA | c.1351_1353delinsTAA | p.P451* | Nonsense | 6/6 | - | 1 |
| 7-107399508-G-C | c.1361G>C | p.W454S | Missense | 6/6 | - | 1 |
| 7-107399509-G-A | c.1362G>A | p.W454* | Nonsense | 6/6 | - | 1 |
| 7-107399509-G-C | c.1362G>C | p.W454C | Missense | 6/6 | - | 2 |
| 7-107399509-G-T | c.1362G>T | p.W454C | Missense | 6/6 | - | 1 |
| 7-107399510-C-T | c.1363C>T | p.P455S | Missense | 6/6 | - | 1 |
| 7-107399511-C-A | c.1364C>A | p.P455H | Missense | 6/6 | - | 3 |
| 7-107399511-C-T | c.1364C>T | p.P455L | Missense | 6/6 | - | 1 |
| 7-107399513-G-A | c.1366G>A | p.A456T | Missense | 6/6 | - | 1 |
| 7-107399514-C-T | c.1367C>T | p.A456V | Missense | 6/6 | - | 1 |
| 7-107399513-GCACCAAGAGGGCCAC-G | c.1372_1386del | p.R458_P462del | InFrameDeletion | 6/6 | - | 1 |
| 7-107399524-G-A | c.1377G>A | p.G459= | Synonymous | 6/6 | - | 2 |
| 7-107399524-G-C | c.1377G>C | p.G459= | Synonymous | 6/6 | - | 1 |
| 7-107399524-G-T | c.1377G>T | p.G459= | Synonymous | 6/6 | - | 1 |
| 7-107399525-C-T | c.1378C>T | p.P460S | Missense | 6/6 | - | 1 |
| 7-107399530-A-G | c.1383A>G | p.P461= | Synonymous | 6/6 | - | 1 |
| 7-107399534-C-T | c.1387C>T | p.P463S | Missense | 6/6 | - | 1 |
| 7-107399540-C-T | c.1393C>T | p.R465* | Nonsense | 6/6 | - | 4 |
| 7-107399541-G-A | c.1394G>A | p.R465Q | Missense | 6/6 | - | 1 |
| 7-107399542-A-G | c.1395A>G | p.R465= | Synonymous | 6/6 | - | 1 |
| 7-107399544-T-C | c.1397T>C | p.L466S | Missense | 6/6 | - | 5 |
| 7-107399549-G-T | c.1402G>T | p.G468C | Missense | 6/6 | - | 4 |
| 7-107399553-C-T | c.1406C>T | p.P469L | Missense | 6/6 | - | 2 |
| 7-107399554-G-A | c.1407G>A | p.P469= | Synonymous | 6/6 | - | 2 |
| 7-107399555-C-T | c.1408C>T | p.P470S | Missense | 6/6 | - | 2 |
| 7-107399559-C-T | c.1412C>T | p.S471F | Missense | 6/6 | - | 1 |
| 7-107399568-C-A | c.1421C>A | p.P474Q | Missense | 6/6 | - | 2 |
| 7-107399569-A-C | c.1422A>C | p.P474= | Synonymous | 6/6 | - | 1 |
| 7-107399570-C-T | c.1423C>T | p.L475F | Missense | 6/6 | - | 1 |
| 7-107399571-T-A | c.1424T>A | p.L475H | Missense | 6/6 | - | 6 |
| 7-107399576-G-A | c.1429G>A | p.G477R | Missense | 6/6 | - | 1 |
| 7-107399576-G-C | c.1429G>C | p.G477R | Missense | 6/6 | - | 1 |
| 7-107399577-G-T | c.1430G>T | p.G477V | Missense | 6/6 | - | 1 |
| 7-107399581-A-G | c.1434A>G | p.P478= | Synonymous | 6/6 | - | 1 |
| 7-107399584-T-A | c.1437T>A | p.H479Q | Missense | 6/6 | - | 1 |
| 7-107399584-T-G | c.1437T>G | p.H479Q | Missense | 6/6 | - | 1 |
| 7-107399585-C-T | c.1438C>T | p.H480Y | Missense | 6/6 | - | 1 |
| 7-107399587-T-C | c.1440T>C | p.H480= | Synonymous | 6/6 | - | 2 |
| 7-107399592-A-C | c.1445A>C | p.D482A | Missense | 6/6 | - | 1 |
| 7-107399595-A-G | c.1448A>G | p.Q483R | Missense | 6/6 | - | 1 |
| 7-107399605-T-C | c.1458T>C | p.Y486= | Synonymous | 6/6 | - | 1 |
| 7-107399607-G-C | c.1460G>C | p.R487T | Missense | 6/6 | - | 1 |
| 7-107399609-C-T | c.1462C>T | p.P488S | Missense | 6/6 | - | 1 |
| 7-107399610-C-T | c.1463C>T | p.P488L | Missense | 6/6 | - | 4 |
| 7-107399611-G-A | c.1464G>A | p.P488= | Synonymous | 6/6 | - | 3 |
| 7-107399611-G-C | c.1464G>C | p.P488= | Synonymous | 6/6 | - | 1 |
| 7-107399611-G-T | c.1464G>T | p.P488= | Synonymous | 6/6 | - | 2 |
| 7-107399920-C-G | c.*297C>G | - | 3-UTRSNV | 6/6 | - | 1 |
| 7-107399935-A-G | c.*312A>G | - | 3-UTRSNV | 6/6 | - | 1 |
| 7-107401429-A-G | c.*1806A>G | - | 3-UTRSNV | 6/6 | - | 2 |
| 7-107401811-A-G | c.*2188A>G | - | 3-UTRSNV | 6/6 | - | 1 |