| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 5-110456258-A-G | WDR36 | c.2137A>G | p.I657V | Missense | 18/23 | - |
| 1-171605665-G-C | MYOC | c.915C>G | p.S305R | Missense | 3/3 | - |
| 17-40914650-T-C | RAMP2 | c.308T>C | p.F103S | Missense | 4/4 | - |
| 2-38301757-G-A | CYP1B1 | c.775C>T | p.R259C | Missense | 2/3 | - |
| 19-49564802-C-T | NTF4 | c.453G>A | p.P151= | Synonymous | 2/2 | - |
| 2-38302255-G-A | CYP1B1 | c.277C>T | p.P93S | Missense | 2/3 | - |
| 9-4050113-T-A | GLIS3 | c.1710+67655A>T | - | IntronicSNV | - | 4/10 |
| 1-171621389-C-T | MYOC | c.363G>A | p.L121= | Synonymous | 1/3 | - |
| 3-193374988-A-C | OPA1 | c.2298A>C | p.R766= | Synonymous | 23/31 | - |
| 16-8891771-T-C | PMM2 | c.32T>C | p.F11S | Missense | 1/8 | - |
| 1-92193226-A-T | TGFBR3 | c.875T>A | p.L292Q | Missense | 7/17 | - |
| 9-120474703-G-C | TLR4 | c.297G>C | p.Q99H | Missense | 3/3 | - |
| 10-13169776-A-G | OPTN | c.1274A>G | p.E425G | Missense | 12/15 | - |
| 3-193333523-G-A | OPA1 | c.412G>A | p.D138N | Missense | 3/31 | - |
| 5-110439530-G-A | WDR36 | c.811G>A | p.V215I | Missense | 7/23 | - |
| 10-13151239-G-C | OPTN | c.117G>C | p.E39D | Missense | 3/15 | - |
| 9-136661619-T-C | VAV2 | c.964A>G | p.K322E | Missense | 11/30 | - |
| 15-74222202-T-C | LOXL1 | c.1102+1976T>C | - | IntronicSNV | - | 1/6 |
| 10-13151239-G-T | OPTN | c.117G>T | p.E39D | Missense | 3/15 | - |
| 2-38298073-A-G | CYP1B1 | c.1424T>C | p.L475P | Missense | 3/3 | - |
| 16-8895749-G-A | PMM2 | c.160G>A | p.E54K | Missense | 2/8 | - |
| 16-8905015-G-A | PMM2 | c.427G>A | p.E143K | Missense | 5/8 | - |
| 6-31545123-TC-CG | TNF | c.511_512delTCinsCG | p.S171R | Missense | 4/4 | - |
| 9-4118501-G-C | GLIS3 | c.977C>G | p.S326C | Missense | 4/11 | - |
| 3-193333555-T-G | OPA1 | c.444T>G | p.D148E | Missense | 3/31 | - |
| 3-193333555-T-A | OPA1 | c.444T>A | p.D148E | Missense | 3/31 | - |
| 17-44803939-CA-TG | NSF | c.1786_1787delCAinsTG | p.Q596W | Missense | 16/21 | - |
| 14-60976547-GC-AA | SIX6 | c.431_432delGCinsAA | p.R144Q | Missense | 1/2 | - |
| 2-38301649-C-T | CYP1B1 | c.883G>A | p.A295T | Missense | 2/3 | - |
| 1-108417547-C-G | VAV3 | c.297G>C | p.L99F | Missense | 2/27 | - |
| 9-136677335-C-T | VAV2 | c.453G>A | p.E151= | Synonymous | 5/30 | - |
| 1-108315367-G-A | VAV3 | c.545C>T | p.A182V | Missense | 5/27 | - |
| 1-108309100-A-C | VAV3 | c.790T>G | p.L264V | Missense | 8/27 | - |
| 1-92193309-CTT-C | TGFBR3 | c.791_792delAA | p.E264Gfs*23 | Frameshift | 7/17 | - |
| 5-36635565-G-T | SLC1A3 | c.319+5876G>T | - | IntronicSNV | - | 3/9 |
| 9-120470054-A-G | TLR4 | c.94-787A>G | - | IntronicSNV | - | 1/2 |
| 9-120474199-T-G | TLR4 | c.261-468T>G | - | IntronicSNV | - | 2/2 |
| 3-193355102-T-A | OPA1 | c.1035+32T>A | - | IntronicSNV | - | 10/30 |
| 6-31783507-G-A | HSPA1A | c.1-27G>A | - | 5-UTRSNV | 1/1 | - |
| 6-31783507-G-C | HSPA1A | c.1-27G>C | - | 5-UTRSNV | 1/1 | - |
| 6-31783507-G-T | HSPA1A | c.1-27G>T | - | 5-UTRSNV | 1/1 | - |
| 6-160103084-C-T | SOD2 | c.*441G>A | - | 3-UTRSNV | 5/5 | - |
| 3-193355102-T-C | OPA1 | c.1035+32T>C | - | IntronicSNV | - | 10/30 |
| 3-193355074-T-A | OPA1 | c.1035+4T>A | - | IntronicSNV | - | 10/30 |
| 3-193355074-T-C | OPA1 | c.1035+4T>C | - | IntronicSNV | - | 10/30 |
| 10-69991853-A-G | ATOH7 | c.1-419T>C | - | 5-UTRSNV | 1/1 | - |
| 7-81350208-A-G | HGF | c.1169-45T>C | - | IntronicSNV | - | 9/17 |
| 9-120483663-A-G | TLR4 | c.*6737A>G | - | IntergenicSNV | 3/3 | - |
| 9-120485795-A-G | TLR4 | c.*8869A>G | - | IntergenicSNV | 3/3 | - |
| 9-120472730-T-A | TLR4 | c.260+1723T>A | - | IntronicSNV | - | 2/2 |
| 9-120472730-T-C | TLR4 | c.260+1723T>C | - | IntronicSNV | - | 2/2 |
| 9-120478131-G-C | TLR4 | c.*1205G>C | - | 3-UTRSNV | 3/3 | - |
| 10-69991749-T-G | ATOH7 | c.1-315A>C | - | 5-UTRSNV | 1/1 | - |
| 1-108502412-C-A | VAV3 | c.204+4876G>T | - | IntronicSNV | - | 1/26 |
| 9-136720821-G-A | VAV2 | c.380+5675C>T | - | IntronicSNV | - | 3/29 |
| 1-171605481-C-T | MYOC | c.1099G>A | p.G367R | Missense | 3/3 | - |
| 1-171605450-G-A | MYOC | c.1130C>T | p.T377M | Missense | 3/3 | - |
| 1-171605471-G-A | MYOC | c.1109C>T | p.P370L | Missense | 3/3 | - |
| 11-34482908-C-T | CAT | c.1167C>T | p.D389= | Synonymous | 9/13 | - |
| 1-171621525-C-T | MYOC | c.227G>A | p.R76K | Missense | 1/3 | - |
| 10-13151224-G-A | OPTN | c.102G>A | p.T34= | Synonymous | 3/15 | - |
| 10-13152400-T-A | OPTN | c.293T>A | p.M98K | Missense | 4/15 | - |
| 20-44640225-A-G | MMP9 | c.836A>G | p.Q279R | Missense | 6/13 | - |
| 19-45854919-T-A | ERCC2 | c.2251A>T | p.K751* | Nonsense | 23/23 | - |
| 3-183696402-A-G | ABCC5 | c.1185T>C | p.A395= | Synonymous | 9/30 | - |
| 2-38302390-G-C | CYP1B1 | c.142C>G | p.R48G | Missense | 2/3 | - |
| 2-38302177-C-A | CYP1B1 | c.355G>T | p.A119S | Missense | 2/3 | - |
| 1-171605271-A-G | MYOC | c.1309T>C | p.Y437H | Missense | 3/3 | - |
| 2-38301954-G-A | CYP1B1 | c.578C>T | p.P193L | Missense | 2/3 | - |
| 2-38301847-C-T | CYP1B1 | c.685G>A | p.E229K | Missense | 2/3 | - |
| 2-38301657-A-T | CYP1B1 | c.875T>A | p.M292K | Missense | 2/3 | - |
| 2-38298394-C-T | CYP1B1 | c.1103G>A | p.R368H | Missense | 3/3 | - |
| 1-171621608-C-A | MYOC | c.144G>T | p.Q48H | Missense | 1/3 | - |
| 10-13174122-A-G | OPTN | c.1457A>G | p.H486R | Missense | 13/15 | - |
| 10-13158319-C-G | OPTN | c.605C>G | p.T202R | Missense | 6/15 | - |
| 2-38298150-A-G | CYP1B1 | c.1347T>C | p.D449= | Synonymous | 3/3 | - |
| 11-119216504-C-T | MFRP | c.406G>A | p.V136M | Missense | 4/15 | - |
| 11-119216231-A-G | MFRP | c.540T>C | p.H180= | Synonymous | 5/15 | - |
| 11-119216279-G-A | MFRP | c.492C>T | p.Y164= | Synonymous | 5/15 | - |
| 11-119216279-G-T | MFRP | c.492C>A | p.Y164* | Nonsense | 5/15 | - |
| 2-38298150-A-T | CYP1B1 | c.1347T>A | p.D449E | Missense | 3/3 | - |
| 1-171621594-A-G | MYOC | c.158T>C | p.V53A | Missense | 1/3 | - |
| 11-119216231-A-C | MFRP | c.540T>G | p.H180Q | Missense | 5/15 | - |
| 1-171605238-T-G | MYOC | c.1342A>C | p.T448P | Missense | 3/3 | - |
| 1-171605501-A-T | MYOC | c.1079T>A | p.I360N | Missense | 3/3 | - |
| 1-171605689-C-A | MYOC | c.891G>T | p.Q297H | Missense | 3/3 | - |
| 1-171605689-C-G | MYOC | c.891G>C | p.Q297H | Missense | 3/3 | - |
| 1-171605493-C-T | MYOC | c.1087G>A | p.A363T | Missense | 3/3 | - |
| 5-110436313-T-A | WDR36 | c.603T>A | p.D145E | Missense | 5/23 | - |
| 1-171621714-G-A | MYOC | c.38C>T | p.P13L | Missense | 1/3 | - |
| 5-110439941-A-G | WDR36 | c.964A>G | p.K266E | Missense | 8/23 | - |
| 6-160099260-T-C | SOD2 | c.*4265A>G | - | IntergenicSNV | 5/5 | - |
| 5-110439509-A-G | WDR36 | c.790A>G | p.I208V | Missense | 7/23 | - |
| 5-110454737-C-T | WDR36 | c.1991C>T | p.S608L | Missense | 17/23 | - |
| 10-13152416-G-C | OPTN | c.309G>C | p.E103D | Missense | 4/15 | - |
| 10-13152416-G-T | OPTN | c.309G>T | p.E103D | Missense | 4/15 | - |
| 22-29451671-A-G | ZNRF3 | c.*2061A>G | - | 3-UTRSNV | 9/9 | - |
| 3-183685534-A-G | ABCC5 | c.1782T>C | p.C594= | Synonymous | 12/30 | - |
| 7-81364187-C-T | HGF | c.866-5092G>A | - | IntronicSNV | - | 7/17 |
| 22-29453027-A-G | ZNRF3 | c.*3417A>G | - | 3-UTRSNV | 9/9 | - |
| 22-29453027-A-T | ZNRF3 | c.*3417A>T | - | 3-UTRSNV | 9/9 | - |
| 7-81364435-C-A | HGF | c.866-5340G>T | - | IntronicSNV | - | 7/17 |
| 7-81364435-C-G | HGF | c.866-5340G>C | - | IntronicSNV | - | 7/17 |
| 7-81364435-C-T | HGF | c.866-5340G>A | - | IntronicSNV | - | 7/17 |
| 7-81347548-T-G | HGF | c.1272-867A>C | - | IntronicSNV | - | 10/17 |
| 7-116148370-T-C | CAV2 | c.*2195T>C | - | 3-UTRSNV | 3/3 | - |
| 7-116148370-T-G | CAV2 | c.*2195T>G | - | 3-UTRSNV | 3/3 | - |
| 3-183752773-G-A | HTR3D | c.67-193G>A | - | IntronicSNV | - | 1/7 |
| 3-183685534-A-T | ABCC5 | c.1782T>A | p.C594* | Nonsense | 12/30 | - |
| 16-8896931-A-C | PMM2 | c.178+1164A>C | - | IntronicSNV | - | 2/7 |
| 16-8896931-A-T | PMM2 | c.178+1164A>T | - | IntronicSNV | - | 2/7 |
| 22-29450856-C-G | ZNRF3 | c.*1246C>G | - | 3-UTRSNV | 9/9 | - |
| 22-29450856-C-T | ZNRF3 | c.*1246C>T | - | 3-UTRSNV | 9/9 | - |
| 22-29450923-A-G | ZNRF3 | c.*1313A>G | - | 3-UTRSNV | 9/9 | - |
| 3-183678342-C-G | ABCC5 | c.2380-719G>C | - | IntronicSNV | - | 16/29 |
| 9-4217028-G-A | GLIS3 | c.388+69010C>T | - | IntronicSNV | - | 2/10 |
| 9-4217028-G-C | GLIS3 | c.388+69010C>G | - | IntronicSNV | - | 2/10 |
| 19-49564992-G-A | NTF4 | c.263C>T | p.A88V | Missense | 2/2 | - |
| 19-49564917-A-G | NTF4 | c.338T>C | p.L113S | Missense | 2/2 | - |
| 10-13151224-G-T | OPTN | c.102G>T | p.T34= | Synonymous | 3/15 | - |
| 10-13151224-G-C | OPTN | c.102G>C | p.T34= | Synonymous | 3/15 | - |
| 1-171605429-T-C | MYOC | c.1151A>G | p.D384G | Missense | 3/3 | - |
| 14-60976537-C-G | SIX6 | c.421C>G | p.H141D | Missense | 1/2 | - |
| 19-49564785-C-G | NTF4 | c.470G>C | p.G157A | Missense | 2/2 | - |
| 19-49564710-G-A | NTF4 | c.545C>T | p.A182V | Missense | 2/2 | - |
| 1-171605819-G-C | MYOC | c.761C>G | p.P254R | Missense | 3/3 | - |
| 10-13154527-G-A | OPTN | c.444G>A | p.V148= | Synonymous | 5/15 | - |
| 10-13154527-G-C | OPTN | c.444G>C | p.V148= | Synonymous | 5/15 | - |
| 10-13154527-G-T | OPTN | c.444G>T | p.V148= | Synonymous | 5/15 | - |
| 1-171605475-A-G | MYOC | c.1105T>C | p.F369L | Missense | 3/3 | - |
| 5-36678275-T-C | SLC1A3 | c.860+989T>C | - | IntronicSNV | - | 6/9 |
| 1-171607845-C-A | MYOC | c.622G>T | p.D208Y | Missense | 2/3 | - |
| 5-36666071-C-T | SLC1A3 | c.320-5060C>T | - | IntronicSNV | - | 3/9 |
| 5-36609024-T-C | SLC1A3 | c.181+318T>C | - | IntronicSNV | - | 2/9 |
| 5-36646915-A-G | SLC1A3 | c.319+17226A>G | - | IntronicSNV | - | 3/9 |
| 1-117297405-AG-CC | CD2 | c.214_215delAGinsCC | p.R72P | Missense | 2/5 | - |
| 1-171609481-T-A | MYOC | c.605-1619A>T | - | IntronicSNV | - | 1/2 |
| 1-171609481-T-C | MYOC | c.605-1619A>G | - | IntronicSNV | - | 1/2 |