| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 18-11981673-A-G | c.5A>G | p.K2R | Missense | 1/8 | - | 1 |
| 18-11981674-G-T | c.6G>T | p.K2N | Missense | 1/8 | - | 1 |
| 18-11981675-C-A | c.7C>A | p.P3T | Missense | 1/8 | - | 1 |
| 18-11981677-G-A | c.9G>A | p.P3= | Synonymous | 1/8 | - | 1 |
| 18-11981677-G-C | c.9G>C | p.P3= | Synonymous | 1/8 | - | 1 |
| 18-11981677-G-T | c.9G>T | p.P3= | Synonymous | 1/8 | - | 1 |
| 18-11981687-G-A | c.19G>A | p.D7N | Missense | 1/8 | - | 1 |
| 18-11981696-G-A | c.28G>A | p.A10T | Missense | 1/8 | - | 1 |
| 18-11981696-GC-AT | c.28_29delinsAT | p.A10M | Missense | 1/8 | - | 1 |
| 18-11981696-GCG-TGT | c.28_30delinsTGT | p.A10C | Missense | 1/8 | - | 1 |
| 18-11981696-G-T | c.28G>T | p.A10S | Missense | 1/8 | - | 1 |
| 18-11981697-C-G | c.29C>G | p.A10G | Missense | 1/8 | - | 1 |
| 18-11981697-C-T | c.29C>T | p.A10V | Missense | 1/8 | - | 1 |
| 18-11981705-GCC-TGG | c.37_39delinsTGG | p.A13W | Missense | 1/8 | - | 1 |
| 18-11981705-GC-TT | c.37_38delinsTT | p.A13F | Missense | 1/8 | - | 1 |
| 18-11981720-G-A | c.52G>A | p.E18K | Missense | 1/8 | - | 1 |
| 18-11981722-G-A | c.54G>A | p.E18= | Synonymous | 1/8 | - | 1 |
| 18-11981726-T-C | c.58T>C | p.F20L | Missense | 1/8 | - | 1 |
| 18-11981728-C-A | c.60C>A | p.F20L | Missense | 1/8 | - | 1 |
| 18-11981728-C-G | c.60C>G | p.F20L | Missense | 1/8 | - | 1 |
| 18-11981733-C-A | c.65C>A | p.A22E | Missense | 1/8 | - | 1 |
| 18-11981747-GCG-TGT | c.79_81delinsTGT | p.A27C | Missense | 1/8 | - | 1 |
| 18-11981746-GGC-G | c.81_82del | p.L28Afs*12 | Frameshift | 1/8 | - | 1 |
| 18-11981758-A-C | c.90A>C | p.A30= | Synonymous | 1/8 | - | 1 |
| 18-11981758-A-G | c.90A>G | p.A30= | Synonymous | 1/8 | - | 1 |
| 18-11981758-A-T | c.90A>T | p.A30= | Synonymous | 1/8 | - | 1 |
| 18-11981762-C-A | c.94C>A | p.Q32K | Missense | 1/8 | - | 1 |
| 18-11982500-G-A | c.96+736G>A | - | IntronicSNV | - | 1/7 | 1 |
| 18-11983073-G-A | c.96+1309G>A | - | IntronicSNV | - | 1/7 | 1 |
| 18-11983565-C-T | c.96+1801C>T | - | IntronicSNV | - | 1/7 | 1 |
| 18-11987272-C-T | c.96+5508C>T | - | IntronicSNV | - | 1/7 | 5 |
| 18-11989379-A-C | c.96+7615A>C | - | IntronicSNV | - | 1/7 | 1 |
| 18-11990828-A-G | c.97-8225A>G | - | IntronicSNV | - | 1/7 | 1 |
| 18-11992265-C-T | c.97-6788C>T | - | IntronicSNV | - | 1/7 | 1 |
| 18-11992479-G-C | c.97-6574G>C | - | IntronicSNV | - | 1/7 | 1 |
| 18-11992546-C-A | c.97-6507C>A | - | IntronicSNV | - | 1/7 | 1 |
| 18-11992546-C-G | c.97-6507C>G | - | IntronicSNV | - | 1/7 | 1 |
| 18-11992725-T-C | c.97-6328T>C | - | IntronicSNV | - | 1/7 | 1 |
| 18-11994598-C-A | c.97-4455C>A | - | IntronicSNV | - | 1/7 | 2 |
| 18-11996337-G-A | c.97-2716G>A | - | IntronicSNV | - | 1/7 | 2 |
| 18-11997197-C-T | c.97-1856C>T | - | IntronicSNV | - | 1/7 | 1 |
| 18-11998927-G-C | c.97-126G>C | - | IntronicSNV | - | 1/7 | 1 |
| 18-11999038-G-A | c.97-15G>A | - | IntronicSNV | - | 1/7 | 8 |
| 18-11999038-G-C | c.97-15G>C | - | IntronicSNV | - | 1/7 | 8 |
| 18-11999053-A-G | c.97A>G | p.I33V | Missense | 2/8 | - | 2 |
| 18-11999054-T-C | c.98T>C | p.I33T | Missense | 2/8 | - | 1 |
| 18-11999060-G-GA | c.108dup | p.A37Sfs*4 | Frameshift | 2/8 | - | 2 |
| 18-11999065-GC-CT | c.109_110delinsCT | p.A37L | Missense | 2/8 | - | 1 |
| 18-11999071-A-C | c.115A>C | p.T39P | Missense | 2/8 | - | 1 |
| 18-11999077-G-A | c.121G>A | p.E41K | Missense | 2/8 | - | 1 |
| 18-11999078-A-G | c.122A>G | p.E41G | Missense | 2/8 | - | 1 |
| 18-11999078-A-T | c.122A>T | p.E41V | Missense | 2/8 | - | 1 |
| 18-11999084-G-A | c.128G>A | p.R43H | Missense | 2/8 | - | 1 |
| 18-11999085-T-A | c.129T>A | p.R43= | Synonymous | 2/8 | - | 1 |
| 18-11999085-T-C | c.129T>C | p.R43= | Synonymous | 2/8 | - | 1 |
| 18-11999085-T-G | c.129T>G | p.R43= | Synonymous | 2/8 | - | 1 |
| 18-11999097-A-G | c.141A>G | p.K47= | Synonymous | 2/8 | - | 1 |
| 18-11999101-T-G | c.145T>G | p.S49A | Missense | 2/8 | - | 3 |
| 18-11999104-G-T | c.148G>T | p.A50S | Missense | 2/8 | - | 1 |
| 18-11999105-C-A | c.149C>A | p.A50D | Missense | 2/8 | - | 1 |
| 18-11999107-GC-AG | c.151_152delinsAG | p.A51R | Missense | 2/8 | - | 1 |
| 18-11999108-C-G | c.152C>G | p.A51G | Missense | 2/8 | - | 1 |
| 18-11999109-A-C | c.153A>C | p.A51= | Synonymous | 2/8 | - | 1 |
| 18-11999109-A-G | c.153A>G | p.A51= | Synonymous | 2/8 | - | 1 |
| 18-11999109-A-T | c.153A>T | p.A51= | Synonymous | 2/8 | - | 2 |
| 18-11999115-T-A | c.159T>A | p.L53= | Synonymous | 2/8 | - | 1 |
| 18-11999115-T-C | c.159T>C | p.L53= | Synonymous | 2/8 | - | 8 |
| 18-11999115-T-G | c.159T>G | p.L53= | Synonymous | 2/8 | - | 1 |
| 18-11999116-G-C | c.160G>C | p.V54L | Missense | 2/8 | - | 1 |
| 18-11999116-G-T | c.160G>T | p.V54L | Missense | 2/8 | - | 1 |
| 18-11999122-G-A | c.166G>A | p.E56K | Missense | 2/8 | - | 3 |
| 18-11999131-C-T | c.175C>T | p.H59Y | Missense | 2/8 | - | 1 |
| 18-11999154-T-G | c.198T>G | p.I66M | Missense | 2/8 | - | 5 |
| 18-11999156-C-A | c.200C>A | p.S67Y | Missense | 2/8 | - | 1 |
| 18-11999158-G-A | c.202G>A | p.E68K | Missense | 2/8 | - | 2 |
| 18-11999164-C-A | c.208C>A | p.R70= | Synonymous | 2/8 | - | 1 |
| 18-11999164-C-T | c.208C>T | p.R70* | Nonsense | 2/8 | - | 2 |
| 18-11999166-A-C | c.210A>C | p.R70= | Synonymous | 2/8 | - | 1 |
| 18-11999166-A-G | c.210A>G | p.R70= | Synonymous | 2/8 | - | 1 |
| 18-11999166-A-T | c.210A>T | p.R70= | Synonymous | 2/8 | - | 1 |
| 18-11999165-G-A | c.209G>A | p.R70Q | Missense | 2/8 | - | 1 |
| 18-11999165-G-T | c.209G>T | p.R70L | Missense | 2/8 | - | 2 |
| 18-11999176-C-T | c.220C>T | p.P74S | Missense | 2/8 | - | 4 |
| 18-11999180-C-T | c.224C>T | p.S75L | Missense | 2/8 | - | 4 |
| 18-11999182-C-T | c.226C>T | p.H76Y | Missense | 2/8 | - | 2 |
| 18-11999191-G-A | c.230+5G>A | - | IntronicSNV | - | 2/7 | 1 |
| 18-11999194-T-C | c.230+8T>C | - | IntronicSNV | - | 2/7 | 1 |
| 18-11999326-G-A | c.230+140G>A | - | IntronicSNV | - | 2/7 | 3 |
| 18-12000415-T-C | c.230+1229T>C | - | IntronicSNV | - | 2/7 | 1 |
| 18-12002061-GT-G | c.230+2883del | - | IntronicDeletion | - | 2/7 | 1 |
| 18-12003278-C-T | c.230+4092C>T | - | IntronicSNV | - | 2/7 | 1 |
| 18-12003760-T-C | c.230+4574T>C | - | IntronicSNV | - | 2/7 | 1 |
| 18-12006252-C-T | c.231-3630C>T | - | IntronicSNV | - | 2/7 | 1 |
| 18-12007022-A-G | c.231-2860A>G | - | IntronicSNV | - | 2/7 | 1 |
| 18-12008018-C-T | c.231-1864C>T | - | IntronicSNV | - | 2/7 | 1 |
| 18-12008021-T-C | c.231-1861T>C | - | IntronicSNV | - | 2/7 | 1 |
| 18-12008284-C-T | c.231-1598C>T | - | IntronicSNV | - | 2/7 | 1 |
| 18-12008391-C-A | c.231-1491C>A | - | IntronicSNV | - | 2/7 | 2 |
| 18-12008391-C-G | c.231-1491C>G | - | IntronicSNV | - | 2/7 | 2 |
| 18-12008391-C-T | c.231-1491C>T | - | IntronicSNV | - | 2/7 | 2 |
| 18-12008847-A-C | c.231-1035A>C | - | IntronicSNV | - | 2/7 | 2 |
| 18-12008847-A-G | c.231-1035A>G | - | IntronicSNV | - | 2/7 | 2 |
| 18-12009886-A-T | c.235A>T | p.I79F | Missense | 3/8 | - | 1 |
| 18-12009892-G-T | c.241G>T | p.E81* | Nonsense | 3/8 | - | 2 |
| 18-12009898-GC-TG | c.247_248delinsTG | p.A83C | Missense | 3/8 | - | 1 |
| 18-12009900-C-A | c.249C>A | p.A83= | Synonymous | 3/8 | - | 1 |
| 18-12009900-C-G | c.249C>G | p.A83= | Synonymous | 3/8 | - | 1 |
| 18-12009900-C-T | c.249C>T | p.A83= | Synonymous | 3/8 | - | 1 |
| 18-12009905-C-T | c.254C>T | p.A85V | Missense | 3/8 | - | 1 |
| 18-12009913-G-A | c.262G>A | p.A88T | Missense | 3/8 | - | 2 |
| 18-12009921-T-C | c.270T>C | p.C90= | Synonymous | 3/8 | - | 2 |
| 18-12009927-C-A | c.276C>A | p.L92= | Synonymous | 3/8 | - | 2 |
| 18-12009927-C-G | c.276C>G | p.L92= | Synonymous | 3/8 | - | 1 |
| 18-12009927-C-T | c.276C>T | p.L92= | Synonymous | 3/8 | - | 1 |
| 18-12009931-C-A | c.280C>A | p.H94N | Missense | 3/8 | - | 1 |
| 18-12009934-A-C | c.283A>C | p.S95R | Missense | 3/8 | - | 1 |
| 18-12009936-C-A | c.285C>A | p.S95R | Missense | 3/8 | - | 2 |
| 18-12009936-C-G | c.285C>G | p.S95R | Missense | 3/8 | - | 1 |
| 18-12009938-C-A | c.287C>A | p.P96Q | Missense | 3/8 | - | 1 |
| 18-12009939-G-C | c.288G>C | p.P96= | Synonymous | 3/8 | - | 1 |
| 18-12009941-C-T | c.290C>T | p.T97M | Missense | 3/8 | - | 5 |
| 18-12009942-G-A | c.291G>A | p.T97= | Synonymous | 3/8 | - | 5 |
| 18-12009942-G-C | c.291G>C | p.T97= | Synonymous | 3/8 | - | 2 |
| 18-12009942-G-T | c.291G>T | p.T97= | Synonymous | 3/8 | - | 3 |
| 18-12009951-C-T | c.300C>T | p.I100= | Synonymous | 3/8 | - | 3 |
| 18-12009953-A-T | c.302A>T | p.D101V | Missense | 3/8 | - | 1 |
| 18-12009956-C-T | c.305C>T | p.P102L | Missense | 3/8 | - | 1 |
| 18-12009960-C-T | c.309C>T | p.I103= | Synonymous | 3/8 | - | 1 |
| 18-12009961-G-A | c.310G>A | p.D104N | Missense | 3/8 | - | 2 |
| 18-12009964-G-A | c.313G>A | p.G105S | Missense | 3/8 | - | 8 |
| 18-12009965-G-T | c.314G>T | p.G105V | Missense | 3/8 | - | 2 |
| 18-12009966-C-A | c.315C>A | p.G105= | Synonymous | 3/8 | - | 1 |
| 18-12009966-C-G | c.315C>G | p.G105= | Synonymous | 3/8 | - | 1 |
| 18-12009966-C-T | c.315C>T | p.G105= | Synonymous | 3/8 | - | 1 |
| 18-12009979-G-C | c.328G>C | p.V110L | Missense | 3/8 | - | 1 |
| 18-12009979-G-T | c.328G>T | p.V110L | Missense | 3/8 | - | 1 |
| 18-12009980-T-C | c.329T>C | p.V110A | Missense | 3/8 | - | 1 |
| 18-12009986-G-A | c.335G>A | p.R112K | Missense | 3/8 | - | 1 |
| 18-12012072-A-C | c.336-97A>C | - | IntronicSNV | - | 3/7 | 2 |
| 18-12012173-C-T | c.340C>T | p.P114S | Missense | 4/8 | - | 3 |
| 18-12012174-C-T | c.341C>T | p.P114L | Missense | 4/8 | - | 1 |
| 18-12012183-C-T | c.350C>T | p.A117V | Missense | 4/8 | - | 1 |
| 18-12012191-A-G | c.358A>G | p.I120V | Missense | 4/8 | - | 1 |
| 18-12012195-G-T | c.362G>T | p.G121V | Missense | 4/8 | - | 5 |
| 18-12012198-T-C | c.365T>C | p.F122S | Missense | 4/8 | - | 3 |
| 18-12012201-C-A | c.368C>A | p.A123D | Missense | 4/8 | - | 1 |
| 18-12012206-C-T | c.373C>T | p.R125* | Nonsense | 4/8 | - | 2 |
| 18-12012207-G-A | c.374G>A | p.R125Q | Missense | 4/8 | - | 3 |
| 18-12012210-A-T | c.377A>T | p.Q126L | Missense | 4/8 | - | 1 |
| 18-12012220-G-A | c.381+6G>A | - | IntronicSNV | - | 4/7 | 1 |
| 18-12012357-C-G | c.381+143C>G | - | IntronicSNV | - | 4/7 | 1 |
| 18-12012451-G-A | c.381+237G>A | - | IntronicSNV | - | 4/7 | 4 |
| 18-12012451-G-C | c.381+237G>C | - | IntronicSNV | - | 4/7 | 3 |
| 18-12012457-A-C | c.381+243A>C | - | IntronicSNV | - | 4/7 | 6 |
| 18-12012457-A-G | c.381+243A>G | - | IntronicSNV | - | 4/7 | 5 |
| 18-12012457-A-T | c.381+243A>T | - | IntronicSNV | - | 4/7 | 5 |
| 18-12012467-A-C | c.381+253A>C | - | IntronicSNV | - | 4/7 | 4 |
| 18-12012516-G-A | c.381+302G>A | - | IntronicSNV | - | 4/7 | 3 |
| 18-12013182-A-C | c.381+968A>C | - | IntronicSNV | - | 4/7 | 3 |
| 18-12013384-T-A | c.382-880T>A | - | IntronicSNV | - | 4/7 | 1 |
| 18-12013384-T-C | c.382-880T>C | - | IntronicSNV | - | 4/7 | 1 |
| 18-12014176-G-A | c.382-88G>A | - | IntronicSNV | - | 4/7 | 1 |
| 18-12014220-G-A | c.382-44G>A | - | IntronicSNV | - | 4/7 | 8 |
| 18-12014264-C-A | c.382C>A | p.L128I | Missense | 5/8 | - | 1 |
| 18-12014272-C-T | c.390C>T | p.F130= | Synonymous | 5/8 | - | 1 |
| 18-12014273-G-A | c.391G>A | p.G131R | Missense | 5/8 | - | 1 |
| 18-12014273-G-C | c.391G>C | p.G131R | Missense | 5/8 | - | 1 |
| 18-12014278-G-T | c.396G>T | p.V132= | Synonymous | 5/8 | - | 1 |
| 18-12014279-A-G | c.397A>G | p.I133V | Missense | 5/8 | - | 1 |
| 18-12014279-A-T | c.397A>T | p.I133F | Missense | 5/8 | - | 1 |
| 18-12014281-T-G | c.399T>G | p.I133M | Missense | 5/8 | - | 1 |
| 18-12014296-G-C | c.414G>C | p.E138D | Missense | 5/8 | - | 1 |
| 18-12014296-G-T | c.414G>T | p.E138D | Missense | 5/8 | - | 1 |
| 18-12014297-G-T | c.415G>T | p.E139* | Nonsense | 5/8 | - | 1 |
| 18-12014301-G-A | c.419G>A | p.R140Q | Missense | 5/8 | - | 8 |
| 18-12014301-G-T | c.419G>T | p.R140L | Missense | 5/8 | - | 1 |
| 18-12014310-C-T | c.428C>T | p.T143M | Missense | 5/8 | - | 1 |
| 18-12014315-C-T | c.433C>T | p.R145W | Missense | 5/8 | - | 1 |
| 18-12014317-G-A | c.435G>A | p.R145= | Synonymous | 5/8 | - | 1 |
| 18-12014318-C-T | c.436C>T | p.R146W | Missense | 5/8 | - | 1 |
| 18-12014319-G-A | c.437G>A | p.R146Q | Missense | 5/8 | - | 1 |
| 18-12014320-G-A | c.438G>A | p.R146= | Synonymous | 5/8 | - | 1 |
| 18-12014324-C-A | c.442C>A | p.R148= | Synonymous | 5/8 | - | 1 |
| 18-12014324-C-T | c.442C>T | p.R148W | Missense | 5/8 | - | 1 |
| 18-12014326-G-A | c.444G>A | p.R148= | Synonymous | 5/8 | - | 1 |
| 18-12014326-G-C | c.444G>C | p.R148= | Synonymous | 5/8 | - | 1 |
| 18-12014326-G-T | c.444G>T | p.R148= | Synonymous | 5/8 | - | 1 |
| 18-12014325-G-A | c.443G>A | p.R148Q | Missense | 5/8 | - | 11 |
| 18-12014329-C-A | c.447C>A | p.G149= | Synonymous | 5/8 | - | 1 |
| 18-12014329-C-G | c.447C>G | p.G149= | Synonymous | 5/8 | - | 1 |
| 18-12014329-C-T | c.447C>T | p.G149= | Synonymous | 5/8 | - | 1 |
| 18-12014330-G-A | c.448G>A | p.A150T | Missense | 5/8 | - | 3 |
| 18-12014333-T-G | c.451T>G | p.F151V | Missense | 5/8 | - | 1 |
| 18-12014335-C-T | c.453C>T | p.F151= | Synonymous | 5/8 | - | 1 |
| 18-12014351-C-A | c.469C>A | p.L157I | Missense | 5/8 | - | 1 |
| 18-12014353-C-A | c.471C>A | p.L157= | Synonymous | 5/8 | - | 1 |
| 18-12014353-C-G | c.471C>G | p.L157= | Synonymous | 5/8 | - | 1 |
| 18-12014353-C-T | c.471C>T | p.L157= | Synonymous | 5/8 | - | 2 |
| 18-12014354-C-A | c.472C>A | p.R158= | Synonymous | 5/8 | - | 1 |
| 18-12014354-C-T | c.472C>T | p.R158W | Missense | 5/8 | - | 2 |
| 18-12014356-G-A | c.474G>A | p.R158= | Synonymous | 5/8 | - | 1 |
| 18-12014356-G-C | c.474G>C | p.R158= | Synonymous | 5/8 | - | 1 |
| 18-12014356-G-T | c.474G>T | p.R158= | Synonymous | 5/8 | - | 2 |
| 18-12014357-G-C | c.475G>C | p.V159L | Missense | 5/8 | - | 1 |
| 18-12014359-C-T | c.477C>T | p.V159= | Synonymous | 5/8 | - | 1 |
| 18-12014362-C-A | c.480C>A | p.S160= | Synonymous | 5/8 | - | 1 |
| 18-12014362-C-G | c.480C>G | p.S160= | Synonymous | 5/8 | - | 1 |
| 18-12014362-C-T | c.480C>T | p.S160= | Synonymous | 5/8 | - | 4 |
| 18-12014363-G-A | c.481G>A | p.G161R | Missense | 5/8 | - | 1 |
| 18-12014363-G-C | c.481G>C | p.G161R | Missense | 5/8 | - | 1 |
| 18-12014368-G-T | c.486G>T | p.E162D | Missense | 5/8 | - | 1 |
| 18-12014369-A-G | c.487A>G | p.T163A | Missense | 5/8 | - | 1 |
| 18-12014383-C-CA | c.490+13dup | - | IntronicInsertion | - | 5/7 | 2 |
| 18-12014411-T-G | c.490+39T>G | - | IntronicSNV | - | 5/7 | 9 |
| 18-12014621-A-G | c.490+249A>G | - | IntronicSNV | - | 5/7 | 1 |
| 18-12017343-A-G | c.490+2971A>G | - | IntronicSNV | - | 5/7 | 2 |
| 18-12018665-C-A | c.490+4293C>A | - | IntronicSNV | - | 5/7 | 1 |
| 18-12019257-AT-A | c.490+4893del | - | IntronicDeletion | - | 5/7 | 1 |
| 18-12021868-G-A | c.491-6174G>A | - | IntronicSNV | - | 5/7 | 1 |
| 18-12027028-C-A | c.491-1014C>A | - | IntronicSNV | - | 5/7 | 1 |
| 18-12027028-C-G | c.491-1014C>G | - | IntronicSNV | - | 5/7 | 1 |
| 18-12027028-C-T | c.491-1014C>T | - | IntronicSNV | - | 5/7 | 1 |
| 18-12027942-T-A | c.491-100T>A | - | IntronicSNV | - | 5/7 | 1 |
| 18-12027942-T-C | c.491-100T>C | - | IntronicSNV | - | 5/7 | 1 |
| 18-12028044-C-T | c.493C>T | p.L165F | Missense | 6/8 | - | 2 |
| 18-12028046-C-T | c.495C>T | p.L165= | Synonymous | 6/8 | - | 1 |
| 18-12028049-A-C | c.498A>C | p.S166= | Synonymous | 6/8 | - | 1 |
| 18-12028052-G-A | c.501G>A | p.K167= | Synonymous | 6/8 | - | 3 |
| 18-12028055-C-A | c.504C>A | p.A168= | Synonymous | 6/8 | - | 1 |
| 18-12028055-C-G | c.504C>G | p.A168= | Synonymous | 6/8 | - | 1 |
| 18-12028055-C-T | c.504C>T | p.A168= | Synonymous | 6/8 | - | 1 |
| 18-12028059-G-A | c.508G>A | p.V170I | Missense | 6/8 | - | 1 |
| 18-12028065-A-T | c.514A>T | p.T172S | Missense | 6/8 | - | 1 |
| 18-12028068-G-A | c.517G>A | p.E173K | Missense | 6/8 | - | 1 |
| 18-12028068-G-T | c.517G>T | p.E173* | Nonsense | 6/8 | - | 1 |
| 18-12028075-G-A | c.524G>A | p.G175D | Missense | 6/8 | - | 2 |
| 18-12028076-C-A | c.525C>A | p.G175= | Synonymous | 6/8 | - | 2 |
| 18-12028076-C-G | c.525C>G | p.G175= | Synonymous | 6/8 | - | 2 |
| 18-12028076-C-T | c.525C>T | p.G175= | Synonymous | 6/8 | - | 2 |
| 18-12028079-C-A | c.528C>A | p.P176= | Synonymous | 6/8 | - | 1 |
| 18-12028079-C-G | c.528C>G | p.P176= | Synonymous | 6/8 | - | 1 |
| 18-12028079-C-T | c.528C>T | p.P176= | Synonymous | 6/8 | - | 1 |
| 18-12028081-A-G | c.530A>G | p.K177R | Missense | 6/8 | - | 1 |
| 18-12028083-C-T | c.532C>T | p.R178C | Missense | 6/8 | - | 4 |
| 18-12028084-G-A | c.533G>A | p.R178H | Missense | 6/8 | - | 3 |
| 18-12028084-G-T | c.533G>T | p.R178L | Missense | 6/8 | - | 3 |
| 18-12028085-T-C | c.534T>C | p.R178= | Synonymous | 6/8 | - | 1 |
| 18-12028089-C-T | c.538C>T | p.P180S | Missense | 6/8 | - | 1 |
| 18-12028090-C-A | c.539C>A | p.P180H | Missense | 6/8 | - | 1 |
| 18-12028097-C-T | c.546C>T | p.T182= | Synonymous | 6/8 | - | 2 |
| 18-12028104-C-T | c.553C>T | p.L185= | Synonymous | 6/8 | - | 1 |
| 18-12028106-G-A | c.555G>A | p.L185= | Synonymous | 6/8 | - | 1 |
| 18-12028106-G-C | c.555G>C | p.L185= | Synonymous | 6/8 | - | 1 |
| 18-12028106-G-T | c.555G>T | p.L185= | Synonymous | 6/8 | - | 1 |
| 18-12028109-C-T | c.558C>T | p.F186= | Synonymous | 6/8 | - | 7 |
| 18-12028110-C-T | c.559C>T | p.L187= | Synonymous | 6/8 | - | 1 |
| 18-12028112-G-A | c.561G>A | p.L187= | Synonymous | 6/8 | - | 1 |
| 18-12028112-G-C | c.561G>C | p.L187= | Synonymous | 6/8 | - | 1 |
| 18-12028112-G-T | c.561G>T | p.L187= | Synonymous | 6/8 | - | 1 |
| 18-12028117-A-G | c.566A>G | p.N189S | Missense | 6/8 | - | 1 |
| 18-12028125-CG-C | c.576del | p.L193Cfs*11 | Frameshift | 6/8 | - | 1 |
| 18-12028128-C-T | c.577C>T | p.L193= | Synonymous | 6/8 | - | 1 |
| 18-12028130-G-A | c.579G>A | p.L193= | Synonymous | 6/8 | - | 1 |
| 18-12028130-G-C | c.579G>C | p.L193= | Synonymous | 6/8 | - | 1 |
| 18-12028130-G-T | c.579G>T | p.L193= | Synonymous | 6/8 | - | 1 |
| 18-12028247-A-G | c.599+97A>G | - | IntronicSNV | - | 6/7 | 5 |
| 18-12028249-G-A | c.599+99G>A | - | IntronicSNV | - | 6/7 | 5 |
| 18-12028580-A-G | c.600-261A>G | - | IntronicSNV | - | 6/7 | 2 |
| 18-12028749-T-C | c.600-92T>C | - | IntronicSNV | - | 6/7 | 1 |
| 18-12028842-GTC-ATG | c.601_603delinsATG | p.V201M | Missense | 7/8 | - | 1 |
| 18-12028846-G-C | c.605G>C | p.R202P | Missense | 7/8 | - | 1 |
| 18-12028851-A-C | c.610A>C | p.I204L | Missense | 7/8 | - | 1 |
| 18-12028865-A-C | c.624A>C | p.T208= | Synonymous | 7/8 | - | 1 |
| 18-12028865-A-G | c.624A>G | p.T208= | Synonymous | 7/8 | - | 1 |
| 18-12028865-A-T | c.624A>T | p.T208= | Synonymous | 7/8 | - | 1 |
| 18-12028869-G-T | c.628G>T | p.A210S | Missense | 7/8 | - | 2 |
| 18-12028870-C-T | c.629C>T | p.A210V | Missense | 7/8 | - | 2 |
| 18-12028871-A-C | c.630A>C | p.A210= | Synonymous | 7/8 | - | 1 |
| 18-12028871-A-G | c.630A>G | p.A210= | Synonymous | 7/8 | - | 1 |
| 18-12028871-A-T | c.630A>T | p.A210= | Synonymous | 7/8 | - | 1 |
| 18-12028874-C-A | c.633C>A | p.L211= | Synonymous | 7/8 | - | 1 |
| 18-12028874-C-G | c.633C>G | p.L211= | Synonymous | 7/8 | - | 1 |
| 18-12028874-C-T | c.633C>T | p.L211= | Synonymous | 7/8 | - | 1 |
| 18-12028889-CAG-C | c.648_649del | p.A218Rfs*63 | Frameshift | 7/8 | - | 2 |
| 18-12028896-G-A | c.655G>A | p.A219T | Missense | 7/8 | - | 1 |
| 18-12028897-C-T | c.656C>T | p.A219V | Missense | 7/8 | - | 1 |
| 18-12028898-G-A | c.657G>A | p.A219= | Synonymous | 7/8 | - | 1 |
| 18-12028898-G-C | c.657G>C | p.A219= | Synonymous | 7/8 | - | 1 |
| 18-12028898-G-T | c.657G>T | p.A219= | Synonymous | 7/8 | - | 1 |
| 18-12028905-T-C | c.664T>C | p.Y222H | Missense | 7/8 | - | 2 |
| 18-12028914-T-C | c.673T>C | p.F225L | Missense | 7/8 | - | 2 |
| 18-12028916-T-A | c.675T>A | p.F225L | Missense | 7/8 | - | 1 |
| 18-12028916-T-G | c.675T>G | p.F225L | Missense | 7/8 | - | 1 |
| 18-12028915-T-C | c.674T>C | p.F225S | Missense | 7/8 | - | 1 |
| 18-12028918-G-A | c.677G>A | p.G226D | Missense | 7/8 | - | 1 |
| 18-12028918-GC-AG | c.677_678delinsAG | p.G226E | Missense | 7/8 | - | 1 |
| 18-12028920-C-G | c.679C>G | p.L227V | Missense | 7/8 | - | 1 |
| 18-12028920-C-T | c.679C>T | p.L227= | Synonymous | 7/8 | - | 1 |
| 18-12028922-G-A | c.681G>A | p.L227= | Synonymous | 7/8 | - | 1 |
| 18-12028922-G-C | c.681G>C | p.L227= | Synonymous | 7/8 | - | 1 |
| 18-12028922-G-T | c.681G>T | p.L227= | Synonymous | 7/8 | - | 1 |
| 18-12028923-C-G | c.682C>G | p.H228D | Missense | 7/8 | - | 1 |
| 18-12028926-T-G | c.685T>G | p.C229G | Missense | 7/8 | - | 1 |
| 18-12028928-C-A | c.687C>A | p.C229* | Nonsense | 7/8 | - | 1 |
| 18-12028930-G-A | c.689G>A | p.W230* | Nonsense | 7/8 | - | 3 |
| 18-12028939-C-G | c.698C>G | p.A233G | Missense | 7/8 | - | 1 |
| 18-12028955-C-A | c.714C>A | p.I238= | Synonymous | 7/8 | - | 1 |
| 18-12028955-C-T | c.714C>T | p.I238= | Synonymous | 7/8 | - | 1 |
| 18-12028956-A-G | c.715A>G | p.I239V | Missense | 7/8 | - | 3 |
| 18-12028958-C-T | c.717C>T | p.I239= | Synonymous | 7/8 | - | 1 |
| 18-12028962-G-T | c.721G>T | p.E241* | Nonsense | 7/8 | - | 1 |
| 18-12028967-A-C | c.726A>C | p.A242= | Synonymous | 7/8 | - | 1 |
| 18-12028967-A-G | c.726A>G | p.A242= | Synonymous | 7/8 | - | 1 |
| 18-12028967-A-T | c.726A>T | p.A242= | Synonymous | 7/8 | - | 1 |
| 18-12028971-G-A | c.730G>A | p.G244S | Missense | 7/8 | - | 1 |
| 18-12028972-G-A | c.731G>A | p.G244D | Missense | 7/8 | - | 2 |
| 18-12028973-C-T | c.732C>T | p.G244= | Synonymous | 7/8 | - | 1 |
| 18-12028977-G-A | c.736G>A | p.V246M | Missense | 7/8 | - | 1 |
| 18-12028990-C-G | c.749C>G | p.S250W | Missense | 7/8 | - | 1 |
| 18-12028990-C-T | c.749C>T | p.S250L | Missense | 7/8 | - | 6 |
| 18-12028991-G-A | c.750G>A | p.S250= | Synonymous | 7/8 | - | 1 |
| 18-12028991-G-C | c.750G>C | p.S250= | Synonymous | 7/8 | - | 1 |
| 18-12028991-G-T | c.750G>T | p.S250= | Synonymous | 7/8 | - | 1 |
| 18-12029029-C-A | c.751+37C>A | - | IntronicSNV | - | 7/7 | 1 |
| 18-12029103-TTCTG-T | c.751+113_751+116del | - | IntronicDeletion | - | 7/7 | 1 |
| 18-12029105-TCTG-T | c.751+113_751+115del | - | IntronicDeletion | - | 7/7 | 1 |
| 18-12029107-TG-T | c.751+115del | - | IntronicDeletion | - | 7/7 | 1 |
| 18-12029304-G-A | c.751+312G>A | - | IntronicSNV | - | 7/7 | 2 |
| 18-12030288-T-C | c.752-54T>C | - | IntronicSNV | - | 7/7 | 1 |
| 18-12030348-C-G | c.758C>G | p.P253R | Missense | 8/8 | - | 1 |
| 18-12030352-C-A | c.762C>A | p.L254= | Synonymous | 8/8 | - | 2 |
| 18-12030352-C-G | c.762C>G | p.L254= | Synonymous | 8/8 | - | 2 |
| 18-12030352-C-T | c.762C>T | p.L254= | Synonymous | 8/8 | - | 4 |
| 18-12030353-G-A | c.763G>A | p.D255N | Missense | 8/8 | - | 2 |
| 18-12030366-G-A | c.776G>A | p.C259Y | Missense | 8/8 | - | 1 |
| 18-12030371-G-A | c.781G>A | p.V261M | Missense | 8/8 | - | 1 |
| 18-12030372-T-C | c.782T>C | p.V261A | Missense | 8/8 | - | 1 |
| 18-12030381-C-T | c.791C>T | p.A264V | Missense | 8/8 | - | 1 |
| 18-12030389-C-A | c.799C>A | p.R267= | Synonymous | 8/8 | - | 2 |
| 18-12030389-C-T | c.799C>T | p.R267W | Missense | 8/8 | - | 1 |
| 18-12030391-G-A | c.801G>A | p.R267= | Synonymous | 8/8 | - | 2 |
| 18-12030391-G-C | c.801G>C | p.R267= | Synonymous | 8/8 | - | 2 |
| 18-12030391-G-T | c.801G>T | p.R267= | Synonymous | 8/8 | - | 2 |
| 18-12030398-G-A | c.808G>A | p.A270T | Missense | 8/8 | - | 1 |
| 18-12030399-C-T | c.809C>T | p.A270V | Missense | 8/8 | - | 3 |
| 18-12030402-T-C | c.812T>C | p.M271T | Missense | 8/8 | - | 1 |
| 18-12030405-T-C | c.815T>C | p.L272P | Missense | 8/8 | - | 1 |
| 18-12030410-G-C | c.820G>C | p.A274P | Missense | 8/8 | - | 2 |
| 18-12030413-C-T | c.823C>T | p.Q275* | Nonsense | 8/8 | - | 3 |
| 18-12030415-G-C | c.825G>C | p.Q275H | Missense | 8/8 | - | 2 |
| 18-12030415-G-T | c.825G>T | p.Q275H | Missense | 8/8 | - | 2 |
| 18-12030418-C-A | c.828C>A | p.A276= | Synonymous | 8/8 | - | 1 |
| 18-12030418-C-G | c.828C>G | p.A276= | Synonymous | 8/8 | - | 1 |
| 18-12030418-C-T | c.828C>T | p.A276= | Synonymous | 8/8 | - | 2 |
| 18-12030420-T-G | c.830T>G | p.L277* | Nonsense | 8/8 | - | 1 |
| 18-12030426-C-G | c.836C>G | p.T279R | Missense | 8/8 | - | 2 |
| 18-12030426-C-T | c.836C>T | p.T279M | Missense | 8/8 | - | 1 |
| 18-12030427-G-A | c.837G>A | p.T279= | Synonymous | 8/8 | - | 5 |
| 18-12030427-G-C | c.837G>C | p.T279= | Synonymous | 8/8 | - | 2 |
| 18-12030427-G-T | c.837G>T | p.T279= | Synonymous | 8/8 | - | 2 |
| 18-12030432-A-G | c.842A>G | p.N281S | Missense | 8/8 | - | 1 |
| 18-12030438-G-A | c.848G>A | p.G283E | Missense | 8/8 | - | 2 |
| 18-12030440-C-T | c.850C>T | p.R284W | Missense | 8/8 | - | 2 |
| 18-12030441-G-A | c.851G>A | p.R284Q | Missense | 8/8 | - | 1 |
| 18-12030443-G-A | c.853G>A | p.D285N | Missense | 8/8 | - | 1 |
| 18-12030448-T-A | c.858T>A | p.D286E | Missense | 8/8 | - | 1 |
| 18-12030448-T-G | c.858T>G | p.D286E | Missense | 8/8 | - | 1 |