| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-233749855-A-G | c.-63A>G | - | 5-UTRSNV | 1/3 | - | 8 |
| 1-233749885-G-T | c.-33G>T | - | 5-UTRSNV | 1/3 | - | 1 |
| 1-233749890-G-T | c.-28G>T | - | 5-UTRSNV | 1/3 | - | 2 |
| 1-233749896-C-T | c.-22C>T | - | 5-UTRSNV | 1/3 | - | 3 |
| 1-233749896-C-CTTGGCCTTGGCT | c.-17_-16insCTTGGCTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749896-C-CTTGGCCTTGGCTTTGGCT | c.-17_-16insCTTGGCTTTGGCTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749896-C-CTTGGCT | c.-17_-16insTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749896-C-CTTGGCTTTGGCT | c.-17_-16insTTTGGCTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749896-C-CTTGGCTTTGGCTTTGGCT | c.-17_-16insTTTGGCTTTGGCTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749896-C-CTTGGCTTTGGTT | c.-17_-16insTTTGGTTTTGGC | - | 5-UTRInsertion | 1/3 | - | 9 |
| 1-233749919-T-C | c.2T>C | p.M1? | Missense | 1/3 | - | 1 |
| 1-233749920-G-A | c.3G>A | p.M1? | Missense | 1/3 | - | 2 |
| 1-233749920-G-C | c.3G>C | p.M1? | Missense | 1/3 | - | 2 |
| 1-233749920-G-T | c.3G>T | p.M1? | Missense | 1/3 | - | 2 |
| 1-233749929-C-T | c.12C>T | p.S4= | Synonymous | 1/3 | - | 2 |
| 1-233749930-C-CT | c.14dup | p.A6Gfs*44 | Frameshift | 1/3 | - | 1 |
| 1-233749941-C-T | c.24C>T | p.S8= | Synonymous | 1/3 | - | 1 |
| 1-233749943-C-T | c.26C>T | p.S9L | Missense | 1/3 | - | 1 |
| 1-233749945-T-C | c.28T>C | p.C10R | Missense | 1/3 | - | 1 |
| 1-233749945-TG-GC | c.28_29delinsGC | p.C10A | Missense | 1/3 | - | 1 |
| 1-233749947-C-T | c.30C>T | p.C10= | Synonymous | 1/3 | - | 1 |
| 1-233749948-G-A | c.31G>A | p.V11M | Missense | 1/3 | - | 1 |
| 1-233749950-G-A | c.33G>A | p.V11= | Synonymous | 1/3 | - | 2 |
| 1-233749950-G-C | c.33G>C | p.V11= | Synonymous | 1/3 | - | 1 |
| 1-233749950-G-T | c.33G>T | p.V11= | Synonymous | 1/3 | - | 1 |
| 1-233749952-G-A | c.35G>A | p.R12H | Missense | 1/3 | - | 1 |
| 1-233749954-CT-GC | c.37_38delinsGC | p.L13A | Missense | 1/3 | - | 1 |
| 1-233749957-G-C | c.40G>C | p.V14L | Missense | 1/3 | - | 3 |
| 1-233749959-G-A | c.42G>A | p.V14= | Synonymous | 1/3 | - | 1 |
| 1-233749959-G-C | c.42G>C | p.V14= | Synonymous | 1/3 | - | 1 |
| 1-233749959-G-T | c.42G>T | p.V14= | Synonymous | 1/3 | - | 1 |
| 1-233749963-C-A | c.46C>A | p.R16= | Synonymous | 1/3 | - | 1 |
| 1-233749963-CGG-AGC | c.46_48delinsAGC | p.R16S | Missense | 1/3 | - | 1 |
| 1-233749963-C-T | c.46C>T | p.R16W | Missense | 1/3 | - | 7 |
| 1-233749965-G-A | c.48G>A | p.R16= | Synonymous | 1/3 | - | 1 |
| 1-233749965-G-C | c.48G>C | p.R16= | Synonymous | 1/3 | - | 1 |
| 1-233749965-G-T | c.48G>T | p.R16= | Synonymous | 1/3 | - | 1 |
| 1-233749968-C-A | c.51C>A | p.H17Q | Missense | 1/3 | - | 1 |
| 1-233749968-C-T | c.51C>T | p.H17= | Synonymous | 1/3 | - | 1 |
| 1-233749969-C-T | c.52C>T | p.R18C | Missense | 1/3 | - | 1 |
| 1-233749970-G-A | c.53G>A | p.R18H | Missense | 1/3 | - | 1 |
| 1-233749973-C-A | c.56C>A | p.S19* | Nonsense | 1/3 | - | 1 |
| 1-233749976-C-A | c.59C>A | p.A20D | Missense | 1/3 | - | 3 |
| 1-233749977-C-T | c.60C>T | p.A20= | Synonymous | 1/3 | - | 1 |
| 1-233749982-G-A | c.65G>A | p.C22Y | Missense | 1/3 | - | 1 |
| 1-233749986-C-T | c.69C>T | p.F23= | Synonymous | 1/3 | - | 1 |
| 1-233749988-G-A | c.71G>A | p.G24D | Missense | 1/3 | - | 2 |
| 1-233749990-T-A | c.73T>A | p.F25I | Missense | 1/3 | - | 1 |
| 1-233750003-G-A | c.86G>A | p.G29D | Missense | 1/3 | - | 2 |
| 1-233750006-A-G | c.89A>G | p.Y30C | Missense | 1/3 | - | 1 |
| 1-233750008-T-A | c.91T>A | p.L31M | Missense | 1/3 | - | 1 |
| 1-233750011-C-T | c.94C>T | p.L32F | Missense | 1/3 | - | 2 |
| 1-233750019-G-A | c.102G>A | p.L34= | Synonymous | 1/3 | - | 2 |
| 1-233750020-G-C | c.103G>C | p.V35L | Missense | 1/3 | - | 1 |
| 1-233750026-G-A | c.109G>A | p.G37S | Missense | 1/3 | - | 1 |
| 1-233750030-C-T | c.113C>T | p.A38V | Missense | 1/3 | - | 1 |
| 1-233750032-G-A | c.115G>A | p.V39M | Missense | 1/3 | - | 2 |
| 1-233750036-T-A | c.119T>A | p.V40D | Missense | 1/3 | - | 3 |
| 1-233750042-C-T | c.125C>T | p.S42F | Missense | 1/3 | - | 1 |
| 1-233750043-C-T | c.126C>T | p.S42= | Synonymous | 1/3 | - | 2 |
| 1-233750046-G-A | c.129G>A | p.S43= | Synonymous | 1/3 | - | 1 |
| 1-233750046-G-C | c.129G>C | p.S43= | Synonymous | 1/3 | - | 1 |
| 1-233750046-G-T | c.129G>T | p.S43= | Synonymous | 1/3 | - | 1 |
| 1-233750049-G-A | c.132G>A | p.V44= | Synonymous | 1/3 | - | 2 |
| 1-233750053-C-T | c.136C>T | p.L46= | Synonymous | 1/3 | - | 1 |
| 1-233750057-C-T | c.140C>T | p.P47L | Missense | 1/3 | - | 3 |
| 1-233750066-A-G | c.149A>G | p.D50G | Missense | 1/3 | - | 2 |
| 1-233750074-C-T | c.157C>T | p.R53C | Missense | 1/3 | - | 1 |
| 1-233750075-G-A | c.158G>A | p.R53H | Missense | 1/3 | - | 1 |
| 1-233750077-C-A | c.160C>A | p.Q54K | Missense | 1/3 | - | 1 |
| 1-233750079-GG-CA | c.162_163delinsCA | p.Q54_E55delinsHK | MultiAAMissense | 1/3 | - | 1 |
| 1-233750080-G-A | c.163G>A | p.E55K | Missense | 1/3 | - | 3 |
| 1-233750082-G-A | c.165G>A | p.E55= | Synonymous | 1/3 | - | 1 |
| 1-233750092-C-T | c.175C>T | p.L59= | Synonymous | 1/3 | - | 1 |
| 1-233750094-G-A | c.177G>A | p.L59= | Synonymous | 1/3 | - | 1 |
| 1-233750094-G-C | c.177G>C | p.L59= | Synonymous | 1/3 | - | 1 |
| 1-233750094-G-T | c.177G>T | p.L59= | Synonymous | 1/3 | - | 1 |
| 1-233750099-G-A | c.182G>A | p.R61Q | Missense | 1/3 | - | 1 |
| 1-233750104-T-G | c.187T>G | p.F63V | Missense | 1/3 | - | 1 |
| 1-233750105-T-A | c.188T>A | p.F63Y | Missense | 1/3 | - | 1 |
| 1-233750113-G-A | c.196G>A | p.E66K | Missense | 1/3 | - | 3 |
| 1-233750122-TG-GC | c.205_206delinsGC | p.C69A | Missense | 1/3 | - | 1 |
| 1-233750151-C-A | c.234C>A | p.F78L | Missense | 1/3 | - | 1 |
| 1-233750152-C-T | c.235C>T | p.L79= | Synonymous | 1/3 | - | 1 |
| 1-233750154-G-A | c.237G>A | p.L79= | Synonymous | 1/3 | - | 1 |
| 1-233750154-G-C | c.237G>C | p.L79= | Synonymous | 1/3 | - | 1 |
| 1-233750154-G-T | c.237G>T | p.L79= | Synonymous | 1/3 | - | 1 |
| 1-233750155-G-A | c.238G>A | p.G80S | Missense | 1/3 | - | 3 |
| 1-233750156-G-C | c.239G>C | p.G80A | Missense | 1/3 | - | 1 |
| 1-233750158-CGG-AGC | c.241_243delinsAGC | p.R81S | Missense | 1/3 | - | 1 |
| 1-233750158-C-T | c.241C>T | p.R81W | Missense | 1/3 | - | 1 |
| 1-233750161-G-C | c.244G>C | p.V82L | Missense | 1/3 | - | 1 |
| 1-233750161-G-T | c.244G>T | p.V82L | Missense | 1/3 | - | 1 |
| 1-233750167-G-A | c.250G>A | p.E84K | Missense | 1/3 | - | 1 |
| 1-233750169-G-A | c.252G>A | p.E84= | Synonymous | 1/3 | - | 1 |
| 1-233750174-G-A | c.257G>A | p.S86N | Missense | 1/3 | - | 1 |
| 1-233750181-C-T | c.264C>T | p.Y88= | Synonymous | 1/3 | - | 1 |
| 1-233750189-C-A | c.272C>A | p.S91* | Nonsense | 1/3 | - | 1 |
| 1-233750189-C-T | c.272C>T | p.S91L | Missense | 1/3 | - | 1 |
| 1-233750191-G-A | c.274G>A | p.V92M | Missense | 1/3 | - | 1 |
| 1-233750191-G-C | c.274G>C | p.V92L | Missense | 1/3 | - | 1 |
| 1-233750191-G-T | c.274G>T | p.V92L | Missense | 1/3 | - | 1 |
| 1-233750196-C-T | c.279C>T | p.L93= | Synonymous | 1/3 | - | 1 |
| 1-233750201-A-G | c.284A>G | p.N95S | Missense | 1/3 | - | 1 |
| 1-233750203-G-A | c.286G>A | p.A96T | Missense | 1/3 | - | 1 |
| 1-233750204-C-T | c.287C>T | p.A96V | Missense | 1/3 | - | 3 |
| 1-233750206-T-C | c.289T>C | p.S97P | Missense | 1/3 | - | 2 |
| 1-233750210-G-T | c.293G>T | p.G98V | Missense | 1/3 | - | 1 |
| 1-233750216-G-A | c.299G>A | p.W100* | Nonsense | 1/3 | - | 4 |
| 1-233750217-G-A | c.300G>A | p.W100* | Nonsense | 1/3 | - | 7 |
| 1-233750221-T-A | c.304T>A | p.W102R | Missense | 1/3 | - | 1 |
| 1-233750221-T-C | c.304T>C | p.W102R | Missense | 1/3 | - | 1 |
| 1-233750222-G-A | c.305G>A | p.W102* | Nonsense | 1/3 | - | 1 |
| 1-233750223-G-A | c.306G>A | p.W102* | Nonsense | 1/3 | - | 3 |
| 1-233750225-A-G | c.308A>G | p.D103G | Missense | 1/3 | - | 1 |
| 1-233750226-C-T | c.309C>T | p.D103= | Synonymous | 1/3 | - | 2 |
| 1-233750227-T-C | c.310T>C | p.F104L | Missense | 1/3 | - | 1 |
| 1-233750227-T-G | c.310T>G | p.F104V | Missense | 1/3 | - | 1 |
| 1-233750229-C-A | c.312C>A | p.F104L | Missense | 1/3 | - | 1 |
| 1-233750229-C-G | c.312C>G | p.F104L | Missense | 1/3 | - | 1 |
| 1-233750231-CC-GG | c.314_315inv | p.T105R | Missense | 1/3 | - | 1 |
| 1-233750234-C-T | c.317C>T | p.S106F | Missense | 1/3 | - | 2 |
| 1-233750239-C-T | c.322C>T | p.L108F | Missense | 1/3 | - | 1 |
| 1-233750244-C-T | c.327C>T | p.F109= | Synonymous | 1/3 | - | 1 |
| 1-233750247-C-T | c.330C>T | p.F110= | Synonymous | 1/3 | - | 1 |
| 1-233750248-G-A | c.331G>A | p.A111T | Missense | 1/3 | - | 1 |
| 1-233750252-G-A | c.335G>A | p.S112N | Missense | 1/3 | - | 1 |
| 1-233750251-A-C | c.334A>C | p.S112R | Missense | 1/3 | - | 1 |
| 1-233750253-C-A | c.336C>A | p.S112R | Missense | 1/3 | - | 1 |
| 1-233750253-C-G | c.336C>G | p.S112R | Missense | 1/3 | - | 1 |
| 1-233750253-C-T | c.336C>T | p.S112= | Synonymous | 1/3 | - | 2 |
| 1-233750259-G-A | c.342G>A | p.V114= | Synonymous | 1/3 | - | 1 |
| 1-233750263-T-G | c.346T>G | p.S116A | Missense | 1/3 | - | 1 |
| 1-233750265-C-A | c.348C>A | p.S116= | Synonymous | 1/3 | - | 1 |
| 1-233750265-C-G | c.348C>G | p.S116= | Synonymous | 1/3 | - | 1 |
| 1-233750265-C-T | c.348C>T | p.S116= | Synonymous | 1/3 | - | 1 |
| 1-233750268-C-T | c.351C>T | p.T117= | Synonymous | 1/3 | - | 1 |
| 1-233750270-C-T | c.353C>T | p.T118I | Missense | 1/3 | - | 2 |
| 1-233750469-C-A | c.355+197C>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233750504-G-A | c.355+232G>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233755805-CA-C | c.355+5542del | - | IntronicDeletion | - | 1/2 | 1 |
| 1-233756065-T-C | c.355+5793T>C | - | IntronicSNV | - | 1/2 | 1 |
| 1-233756846-C-G | c.355+6574C>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233757477-T-G | c.355+7205T>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233757476-GT-G | c.355+7213del | - | IntronicDeletion | - | 1/2 | 1 |
| 1-233759543-T-G | c.355+9271T>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233759784-A-G | c.355+9512A>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233759864-C-T | c.355+9592C>T | - | IntronicSNV | - | 1/2 | 2 |
| 1-233759918-T-C | c.355+9646T>C | - | IntronicSNV | - | 1/2 | 5 |
| 1-233759939-C-T | c.355+9667C>T | - | IntronicSNV | - | 1/2 | 4 |
| 1-233760106-A-G | c.355+9834A>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233766695-T-C | c.355+16423T>C | - | IntronicSNV | - | 1/2 | 2 |
| 1-233766873-G-A | c.355+16601G>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233767008-T-A | c.355+16736T>A | - | IntronicSNV | - | 1/2 | 4 |
| 1-233767023-A-C | c.355+16751A>C | - | IntronicSNV | - | 1/2 | 4 |
| 1-233767023-A-G | c.355+16751A>G | - | IntronicSNV | - | 1/2 | 5 |
| 1-233767033-G-A | c.355+16761G>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233767033-G-C | c.355+16761G>C | - | IntronicSNV | - | 1/2 | 1 |
| 1-233767033-G-T | c.355+16761G>T | - | IntronicSNV | - | 1/2 | 1 |
| 1-233767059-T-C | c.355+16787T>C | - | IntronicSNV | - | 1/2 | 2 |
| 1-233767059-T-G | c.355+16787T>G | - | IntronicSNV | - | 1/2 | 2 |
| 1-233767105-A-G | c.355+16833A>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233767556-G-GT | c.355+17292dup | - | IntronicInsertion | - | 1/2 | 1 |
| 1-233771339-AT-A | c.355+21076del | - | IntronicDeletion | - | 1/2 | 1 |
| 1-233782154-A-C | c.356-20187A>C | - | IntronicSNV | - | 1/2 | 1 |
| 1-233782154-A-G | c.356-20187A>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233783210-T-C | c.356-19131T>C | - | IntronicSNV | - | 1/2 | 1 |
| 1-233784222-T-G | c.356-18119T>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233784588-T-A | c.356-17753T>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233784588-T-C | c.356-17753T>C | - | IntronicSNV | - | 1/2 | 1 |
| 1-233785716-T-A | c.356-16625T>A | - | IntronicSNV | - | 1/2 | 4 |
| 1-233785716-T-G | c.356-16625T>G | - | IntronicSNV | - | 1/2 | 4 |
| 1-233785786-A-C | c.356-16555A>C | - | IntronicSNV | - | 1/2 | 7 |
| 1-233785786-A-T | c.356-16555A>T | - | IntronicSNV | - | 1/2 | 7 |
| 1-233786170-C-T | c.356-16171C>T | - | IntronicSNV | - | 1/2 | 1 |
| 1-233794603-G-A | c.356-7738G>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233795310-C-A | c.356-7031C>A | - | IntronicSNV | - | 1/2 | 1 |
| 1-233800484-C-T | c.356-1857C>T | - | IntronicSNV | - | 1/2 | 1 |
| 1-233802296-C-G | c.356-45C>G | - | IntronicSNV | - | 1/2 | 1 |
| 1-233802341-G-A | c.356G>A | p.G119D | Missense | 2/3 | - | 2 |
| 1-233802346-G-A | c.361G>A | p.G121S | Missense | 2/3 | - | 1 |
| 1-233802346-G-C | c.361G>C | p.G121R | Missense | 2/3 | - | 1 |
| 1-233802347-G-A | c.362G>A | p.G121D | Missense | 2/3 | - | 3 |
| 1-233802347-GC-AG | c.362_363delinsAG | p.G121E | Missense | 2/3 | - | 1 |
| 1-233802348-C-A | c.363C>A | p.G121= | Synonymous | 2/3 | - | 1 |
| 1-233802348-C-G | c.363C>G | p.G121= | Synonymous | 2/3 | - | 1 |
| 1-233802348-C-T | c.363C>T | p.G121= | Synonymous | 2/3 | - | 1 |
| 1-233802349-C-A | c.364C>A | p.H122N | Missense | 2/3 | - | 3 |
| 1-233802349-CA-AG | c.364_365delinsAG | p.H122S | Missense | 2/3 | - | 1 |
| 1-233802349-CAC-AAG | c.364_366delinsAAG | p.H122K | Missense | 2/3 | - | 1 |
| 1-233802349-C-G | c.364C>G | p.H122D | Missense | 2/3 | - | 1 |
| 1-233802352-AC-GA | c.367_368delinsGA | p.T123D | Missense | 2/3 | - | 1 |
| 1-233802352-AC-GG | c.367_368delinsGG | p.T123G | Missense | 2/3 | - | 1 |
| 1-233802352-AC-GT | c.367_368inv | p.T123V | Missense | 2/3 | - | 1 |
| 1-233802352-AC-TG | c.367_368delinsTG | p.T123C | Missense | 2/3 | - | 1 |
| 1-233802352-A-T | c.367A>T | p.T123S | Missense | 2/3 | - | 1 |
| 1-233802353-C-G | c.368C>G | p.T123S | Missense | 2/3 | - | 1 |
| 1-233802354-C-A | c.369C>A | p.T123= | Synonymous | 2/3 | - | 1 |
| 1-233802354-C-G | c.369C>G | p.T123= | Synonymous | 2/3 | - | 1 |
| 1-233802354-C-T | c.369C>T | p.T123= | Synonymous | 2/3 | - | 1 |
| 1-233802359-C-A | c.374C>A | p.P125H | Missense | 2/3 | - | 5 |
| 1-233802363-G-A | c.378G>A | p.L126= | Synonymous | 2/3 | - | 1 |
| 1-233802370-G-A | c.385G>A | p.G129R | Missense | 2/3 | - | 2 |
| 1-233802371-G-A | c.386G>A | p.G129E | Missense | 2/3 | - | 2 |
| 1-233802372-A-C | c.387A>C | p.G129= | Synonymous | 2/3 | - | 1 |
| 1-233802372-A-G | c.387A>G | p.G129= | Synonymous | 2/3 | - | 1 |
| 1-233802372-A-T | c.387A>T | p.G129= | Synonymous | 2/3 | - | 1 |
| 1-233802378-G-A | c.393G>A | p.K131= | Synonymous | 2/3 | - | 1 |
| 1-233802384-C-A | c.399C>A | p.F133L | Missense | 2/3 | - | 1 |
| 1-233802387-C-T | c.402C>T | p.C134= | Synonymous | 2/3 | - | 1 |
| 1-233802390-C-G | c.405C>G | p.I135M | Missense | 2/3 | - | 1 |
| 1-233802396-C-A | c.411C>A | p.Y137* | Nonsense | 2/3 | - | 1 |
| 1-233802396-C-G | c.411C>G | p.Y137* | Nonsense | 2/3 | - | 1 |
| 1-233802399-C-T | c.414C>T | p.S138= | Synonymous | 2/3 | - | 1 |
| 1-233802400-G-A | c.415G>A | p.V139I | Missense | 2/3 | - | 6 |
| 1-233802401-T-C | c.416T>C | p.V139A | Missense | 2/3 | - | 1 |
| 1-233802402-C-T | c.417C>T | p.V139= | Synonymous | 2/3 | - | 2 |
| 1-233802404-T-C | c.419T>C | p.I140T | Missense | 2/3 | - | 1 |
| 1-233802412-C-G | c.427C>G | p.P143A | Missense | 2/3 | - | 1 |
| 1-233802413-C-T | c.428C>T | p.P143L | Missense | 2/3 | - | 4 |
| 1-233802414-C-A | c.429C>A | p.P143= | Synonymous | 2/3 | - | 1 |
| 1-233802417-C-T | c.432C>T | p.F144= | Synonymous | 2/3 | - | 2 |
| 1-233802418-A-C | c.433A>C | p.T145P | Missense | 2/3 | - | 1 |
| 1-233802418-A-G | c.433A>G | p.T145A | Missense | 2/3 | - | 1 |
| 1-233802419-C-T | c.434C>T | p.T145I | Missense | 2/3 | - | 2 |
| 1-233802420-C-A | c.435C>A | p.T145= | Synonymous | 2/3 | - | 2 |
| 1-233802420-C-G | c.435C>G | p.T145= | Synonymous | 2/3 | - | 2 |
| 1-233802420-C-T | c.435C>T | p.T145= | Synonymous | 2/3 | - | 2 |
| 1-233802421-C-G | c.436C>G | p.L146V | Missense | 2/3 | - | 3 |
| 1-233802421-C-T | c.436C>T | p.L146F | Missense | 2/3 | - | 1 |
| 1-233802421-CT-AA | c.436_437delinsAA | p.L146N | Missense | 2/3 | - | 7 |
| 1-233802421-CT-AC | c.436_437delinsAC | p.L146T | Missense | 2/3 | - | 1 |
| 1-233802421-CT-AG | c.436_437inv | p.L146S | Missense | 2/3 | - | 1 |
| 1-233802421-CT-GA | c.436_437delinsGA | p.L146D | Missense | 2/3 | - | 3 |
| 1-233802421-CT-GC | c.436_437delinsGC | p.L146A | Missense | 2/3 | - | 1 |
| 1-233802421-CT-GG | c.436_437delinsGG | p.L146G | Missense | 2/3 | - | 1 |
| 1-233802423-C-T | c.438C>T | p.L146= | Synonymous | 2/3 | - | 2 |
| 1-233802429-C-T | c.444C>T | p.F148= | Synonymous | 2/3 | - | 4 |
| 1-233802434-C-G | c.449C>G | p.T150R | Missense | 2/3 | - | 1 |
| 1-233802434-C-T | c.449C>T | p.T150M | Missense | 2/3 | - | 1 |
| 1-233802437-C-G | c.452C>G | p.A151G | Missense | 2/3 | - | 1 |
| 1-233802443-T-C | c.458T>C | p.V153A | Missense | 2/3 | - | 1 |
| 1-233802443-T-G | c.458T>G | p.V153G | Missense | 2/3 | - | 1 |
| 1-233802444-C-T | c.459C>T | p.V153= | Synonymous | 2/3 | - | 2 |
| 1-233802448-C-T | c.463C>T | p.R155C | Missense | 2/3 | - | 1 |
| 1-233802449-G-A | c.464G>A | p.R155H | Missense | 2/3 | - | 1 |
| 1-233802450-C-A | c.465C>A | p.R155= | Synonymous | 2/3 | - | 1 |
| 1-233802450-C-G | c.465C>G | p.R155= | Synonymous | 2/3 | - | 1 |
| 1-233802450-C-T | c.465C>T | p.R155= | Synonymous | 2/3 | - | 1 |
| 1-233802451-A-G | c.466A>G | p.I156V | Missense | 2/3 | - | 2 |
| 1-233802452-T-C | c.467T>C | p.I156T | Missense | 2/3 | - | 1 |
| 1-233802453-C-T | c.468C>T | p.I156= | Synonymous | 2/3 | - | 3 |
| 1-233802456-C-A | c.471C>A | p.T157= | Synonymous | 2/3 | - | 1 |
| 1-233802456-C-G | c.471C>G | p.T157= | Synonymous | 2/3 | - | 1 |
| 1-233802456-C-T | c.471C>T | p.T157= | Synonymous | 2/3 | - | 2 |
| 1-233802459-G-T | c.474G>T | p.V158= | Synonymous | 2/3 | - | 1 |
| 1-233802461-A-G | c.476A>G | p.H159R | Missense | 2/3 | - | 4 |
| 1-233802462-C-T | c.477C>T | p.H159= | Synonymous | 2/3 | - | 1 |
| 1-233802463-G-A | c.478G>A | p.V160I | Missense | 2/3 | - | 9 |
| 1-233802464-T-G | c.479T>G | p.V160G | Missense | 2/3 | - | 2 |
| 1-233802467-C-T | c.482C>T | p.T161I | Missense | 2/3 | - | 1 |
| 1-233802469-C-T | c.484C>T | p.R162C | Missense | 2/3 | - | 2 |
| 1-233802470-G-A | c.485G>A | p.R162H | Missense | 2/3 | - | 1 |
| 1-233802474-G-C | c.489G>C | p.R163S | Missense | 2/3 | - | 1 |
| 1-233802474-G-T | c.489G>T | p.R163S | Missense | 2/3 | - | 3 |
| 1-233802476-C-T | c.491C>T | p.P164L | Missense | 2/3 | - | 2 |
| 1-233802486-C-T | c.501C>T | p.Y167= | Synonymous | 2/3 | - | 1 |
| 1-233802489-C-T | c.504C>T | p.F168= | Synonymous | 2/3 | - | 3 |
| 1-233802492-C-T | c.507C>T | p.H169= | Synonymous | 2/3 | - | 1 |
| 1-233802494-T-A | c.509T>A | p.I170N | Missense | 2/3 | - | 1 |
| 1-233802496-C-G | c.511C>G | p.R171G | Missense | 2/3 | - | 1 |
| 1-233802496-C-T | c.511C>T | p.R171C | Missense | 2/3 | - | 5 |
| 1-233802497-G-A | c.512G>A | p.R171H | Missense | 2/3 | - | 8 |
| 1-233802497-G-T | c.512G>T | p.R171L | Missense | 2/3 | - | 1 |
| 1-233802505-T-C | c.520T>C | p.F174L | Missense | 2/3 | - | 3 |
| 1-233802507-C-A | c.522C>A | p.F174L | Missense | 2/3 | - | 1 |
| 1-233802507-C-G | c.522C>G | p.F174L | Missense | 2/3 | - | 1 |
| 1-233802509-C-T | c.524C>T | p.S175F | Missense | 2/3 | - | 1 |
| 1-233802512-A-G | c.527A>G | p.K176R | Missense | 2/3 | - | 1 |
| 1-233802517-G-T | c.532G>T | p.V178L | Missense | 2/3 | - | 1 |
| 1-233802519-G-A | c.534G>A | p.V178= | Synonymous | 2/3 | - | 1 |
| 1-233802523-G-A | c.538G>A | p.A180T | Missense | 2/3 | - | 4 |
| 1-233802524-C-T | c.539C>T | p.A180V | Missense | 2/3 | - | 1 |
| 1-233802528-C-A | c.543C>A | p.I181= | Synonymous | 2/3 | - | 3 |
| 1-233802528-C-T | c.543C>T | p.I181= | Synonymous | 2/3 | - | 6 |
| 1-233802529-G-A | c.544G>A | p.V182I | Missense | 2/3 | - | 2 |
| 1-233802530-T-A | c.545T>A | p.V182D | Missense | 2/3 | - | 2 |
| 1-233802542-T-A | c.557T>A | p.L186H | Missense | 2/3 | - | 1 |
| 1-233802543-C-T | c.558C>T | p.L186= | Synonymous | 2/3 | - | 1 |
| 1-233802547-G-A | c.562G>A | p.G188R | Missense | 2/3 | - | 1 |
| 1-233802547-G-C | c.562G>C | p.G188R | Missense | 2/3 | - | 1 |
| 1-233802549-G-C | c.564G>C | p.G188= | Synonymous | 2/3 | - | 1 |
| 1-233802564-C-T | c.579C>T | p.S193= | Synonymous | 2/3 | - | 1 |
| 1-233802569-T-G | c.584T>G | p.F195C | Missense | 2/3 | - | 2 |
| 1-233802573-C-T | c.588C>T | p.F196= | Synonymous | 2/3 | - | 1 |
| 1-233802576-C-T | c.591C>T | p.F197= | Synonymous | 2/3 | - | 1 |
| 1-233802579-C-G | c.594C>G | p.I198M | Missense | 2/3 | - | 1 |
| 1-233802580-C-T | c.595C>T | p.P199S | Missense | 2/3 | - | 2 |
| 1-233802581-C-T | c.596C>T | p.P199L | Missense | 2/3 | - | 6 |
| 1-233802586-G-A | c.601G>A | p.A201T | Missense | 2/3 | - | 4 |
| 1-233802594-C-T | c.609C>T | p.F203= | Synonymous | 2/3 | - | 1 |
| 1-233802597-A-C | c.612A>C | p.S204= | Synonymous | 2/3 | - | 1 |
| 1-233802597-A-G | c.612A>G | p.S204= | Synonymous | 2/3 | - | 1 |
| 1-233802597-A-T | c.612A>T | p.S204= | Synonymous | 2/3 | - | 1 |
| 1-233802600-C-A | c.615C>A | p.V205= | Synonymous | 2/3 | - | 3 |
| 1-233802604-G-A | c.619G>A | p.E207K | Missense | 2/3 | - | 1 |
| 1-233802604-G-C | c.619G>C | p.E207Q | Missense | 2/3 | - | 3 |
| 1-233802606-G-A | c.621G>A | p.E207= | Synonymous | 2/3 | - | 3 |
| 1-233802610-G-A | c.625G>A | p.D209N | Missense | 2/3 | - | 5 |
| 1-233802612-C-G | c.627C>G | p.D209E | Missense | 2/3 | - | 1 |
| 1-233802614-G-A | c.629G>A | p.W210* | Nonsense | 2/3 | - | 1 |
| 1-233802615-G-A | c.630G>A | p.W210* | Nonsense | 2/3 | - | 4 |
| 1-233802621-C-T | c.636C>T | p.F212= | Synonymous | 2/3 | - | 5 |
| 1-233802624-G-A | c.639G>A | p.L213= | Synonymous | 2/3 | - | 2 |
| 1-233802625-G-A | c.640G>A | p.E214K | Missense | 2/3 | - | 3 |
| 1-233802629-C-T | c.644C>T | p.S215F | Missense | 2/3 | - | 4 |
| 1-233802631-T-C | c.646T>C | p.F216L | Missense | 2/3 | - | 2 |
| 1-233802632-T-A | c.647T>A | p.F216Y | Missense | 2/3 | - | 2 |
| 1-233802637-T-C | c.652T>C | p.F218L | Missense | 2/3 | - | 1 |
| 1-233802639-T-A | c.654T>A | p.F218L | Missense | 2/3 | - | 1 |
| 1-233802639-T-G | c.654T>G | p.F218L | Missense | 2/3 | - | 1 |
| 1-233802643-T-C | c.658T>C | p.F220L | Missense | 2/3 | - | 1 |
| 1-233802645-T-A | c.660T>A | p.F220L | Missense | 2/3 | - | 1 |
| 1-233802645-T-G | c.660T>G | p.F220L | Missense | 2/3 | - | 1 |
| 1-233802650-C-T | c.665C>T | p.S222F | Missense | 2/3 | - | 10 |
| 1-233802652-C-T | c.667C>T | p.L223= | Synonymous | 2/3 | - | 1 |
| 1-233802654-G-A | c.669G>A | p.L223= | Synonymous | 2/3 | - | 1 |
| 1-233802654-G-C | c.669G>C | p.L223= | Synonymous | 2/3 | - | 1 |
| 1-233802654-G-T | c.669G>T | p.L223= | Synonymous | 2/3 | - | 1 |
| 1-233802655-A-T | c.670A>T | p.S224C | Missense | 2/3 | - | 1 |
| 1-233802661-A-G | c.676A>G | p.I226V | Missense | 2/3 | - | 3 |
| 1-233802667-CTG-TTT | c.682_684delinsTTT | p.L228F | Missense | 2/3 | - | 1 |
| 1-233802670-G-A | c.685G>A | p.G229R | Missense | 2/3 | - | 1 |
| 1-233802670-G-C | c.685G>C | p.G229R | Missense | 2/3 | - | 1 |
| 1-233802671-G-T | c.686G>T | p.G229V | Missense | 2/3 | - | 1 |
| 1-233802673-G-A | c.688G>A | p.D230N | Missense | 2/3 | - | 1 |
| 1-233802674-A-T | c.689A>T | p.D230V | Missense | 2/3 | - | 1 |
| 1-233802677-A-T | c.692A>T | p.Y231F | Missense | 2/3 | - | 1 |
| 1-233802682-C-T | c.697C>T | p.P233S | Missense | 2/3 | - | 1 |
| 1-233802686-G-A | c.701G>A | p.G234E | Missense | 2/3 | - | 1 |
| 1-233802686-G-T | c.701G>T | p.G234V | Missense | 2/3 | - | 1 |
| 1-233802688-G-A | c.703G>A | p.E235K | Missense | 2/3 | - | 5 |
| 1-233802690-A-G | c.705A>G | p.E235= | Synonymous | 2/3 | - | 1 |
| 1-233802691-G-A | c.706G>A | p.G236S | Missense | 2/3 | - | 3 |
| 1-233802700-C-A | c.715C>A | p.Q239K | Missense | 2/3 | - | 1 |
| 1-233802706-T-G | c.721T>G | p.F241V | Missense | 2/3 | - | 4 |
| 1-233802708-C-T | c.723C>T | p.F241= | Synonymous | 2/3 | - | 1 |
| 1-233802713-A-C | c.728A>C | p.E243A | Missense | 2/3 | - | 1 |
| 1-233802715-C-T | c.730C>T | p.L244F | Missense | 2/3 | - | 2 |
| 1-233802717-C-A | c.732C>A | p.L244= | Synonymous | 2/3 | - | 2 |
| 1-233802717-C-G | c.732C>G | p.L244= | Synonymous | 2/3 | - | 2 |
| 1-233802717-C-T | c.732C>T | p.L244= | Synonymous | 2/3 | - | 2 |
| 1-233802719-A-C | c.734A>C | p.Y245S | Missense | 2/3 | - | 1 |
| 1-233802723-G-A | c.738G>A | p.K246= | Synonymous | 2/3 | - | 1 |
| 1-233802727-G-A | c.742G>A | p.G248R | Missense | 2/3 | - | 2 |
| 1-233802727-G-C | c.742G>C | p.G248R | Missense | 2/3 | - | 2 |
| 1-233802729-G-A | c.744G>A | p.G248= | Synonymous | 2/3 | - | 4 |
| 1-233802729-G-T | c.744G>T | p.G248= | Synonymous | 2/3 | - | 1 |
| 1-233802732-C-T | c.747C>T | p.I249= | Synonymous | 2/3 | - | 1 |
| 1-233802733-AC-CT | c.748_749delinsCT | p.T250L | Missense | 2/3 | - | 1 |
| 1-233802734-C-T | c.749C>T | p.T250M | Missense | 2/3 | - | 1 |
| 1-233802735-G-A | c.750G>A | p.T250= | Synonymous | 2/3 | - | 1 |
| 1-233802736-T-C | c.751T>C | p.C251R | Missense | 2/3 | - | 1 |
| 1-233802856-C-A | c.751+120C>A | - | IntronicSNV | - | 2/2 | 1 |
| 1-233802856-C-G | c.751+120C>G | - | IntronicSNV | - | 2/2 | 1 |
| 1-233802856-C-T | c.751+120C>T | - | IntronicSNV | - | 2/2 | 1 |
| 1-233804388-A-G | c.751+1652A>G | - | IntronicSNV | - | 2/2 | 1 |
| 1-233804388-A-T | c.751+1652A>T | - | IntronicSNV | - | 2/2 | 1 |
| 1-233807017-G-A | c.752G>A | p.C251Y | Missense | 3/3 | - | 5 |
| 1-233807018-T-C | c.753T>C | p.C251= | Synonymous | 3/3 | - | 1 |
| 1-233807022-C-T | c.757C>T | p.L253= | Synonymous | 3/3 | - | 2 |
| 1-233807028-C-A | c.763C>A | p.L255I | Missense | 3/3 | - | 1 |
| 1-233807031-G-T | c.766G>T | p.G256C | Missense | 3/3 | - | 1 |
| 1-233807034-C-G | c.769C>G | p.L257V | Missense | 3/3 | - | 2 |
| 1-233807034-CT-GA | c.769_770delinsGA | p.L257D | Missense | 3/3 | - | 1 |
| 1-233807042-C-A | c.777C>A | p.A259= | Synonymous | 3/3 | - | 1 |
| 1-233807042-C-G | c.777C>G | p.A259= | Synonymous | 3/3 | - | 1 |
| 1-233807042-C-T | c.777C>T | p.A259= | Synonymous | 3/3 | - | 1 |
| 1-233807046-TTG-AAC | c.781_783delinsAAC | p.L261N | Missense | 3/3 | - | 1 |
| 1-233807046-TT-GC | c.781_782delinsGC | p.L261A | Missense | 3/3 | - | 1 |
| 1-233807046-TTG-GAC | c.781_783delinsGAC | p.L261D | Missense | 3/3 | - | 1 |
| 1-233807047-T-C | c.782T>C | p.L261S | Missense | 3/3 | - | 1 |
| 1-233807050-T-C | c.785T>C | p.V262A | Missense | 3/3 | - | 1 |
| 1-233807055-CTG-GAC | c.790_792delinsGAC | p.L264D | Missense | 3/3 | - | 1 |
| 1-233807056-T-A | c.791T>A | p.L264Q | Missense | 3/3 | - | 1 |
| 1-233807056-T-C | c.791T>C | p.L264P | Missense | 3/3 | - | 1 |
| 1-233807058-G-A | c.793G>A | p.E265K | Missense | 3/3 | - | 3 |
| 1-233807063-C-T | c.798C>T | p.T266= | Synonymous | 3/3 | - | 3 |
| 1-233807068-G-A | c.803G>A | p.C268Y | Missense | 3/3 | - | 1 |
| 1-233807070-G-A | c.805G>A | p.E269K | Missense | 3/3 | - | 2 |
| 1-233807082-C-T | c.817C>T | p.L273= | Synonymous | 3/3 | - | 5 |
| 1-233807084-G-A | c.819G>A | p.L273= | Synonymous | 3/3 | - | 5 |
| 1-233807084-G-C | c.819G>C | p.L273= | Synonymous | 3/3 | - | 2 |
| 1-233807084-G-T | c.819G>T | p.L273= | Synonymous | 3/3 | - | 2 |
| 1-233807085-A-C | c.820A>C | p.K274Q | Missense | 3/3 | - | 2 |
| 1-233807085-A-G | c.820A>G | p.K274E | Missense | 3/3 | - | 11 |
| 1-233807086-A-G | c.821A>G | p.K274R | Missense | 3/3 | - | 2 |
| 1-233807093-C-T | c.828C>T | p.F276= | Synonymous | 3/3 | - | 4 |
| 1-233807094-A-G | c.829A>G | p.R277G | Missense | 3/3 | - | 1 |
| 1-233807094-A-C | c.829A>C | p.R277= | Synonymous | 3/3 | - | 1 |
| 1-233807096-A-G | c.831A>G | p.R277= | Synonymous | 3/3 | - | 1 |
| 1-233807098-A-T | c.833A>T | p.K278I | Missense | 3/3 | - | 2 |
| 1-233807100-A-T | c.835A>T | p.M279L | Missense | 3/3 | - | 1 |
| 1-233807103-T-C | c.838T>C | p.F280L | Missense | 3/3 | - | 3 |
| 1-233807105-C-A | c.840C>A | p.F280L | Missense | 3/3 | - | 3 |
| 1-233807105-C-G | c.840C>G | p.F280L | Missense | 3/3 | - | 3 |
| 1-233807105-C-T | c.840C>T | p.F280= | Synonymous | 3/3 | - | 5 |
| 1-233807111-G-A | c.846G>A | p.V282= | Synonymous | 3/3 | - | 3 |
| 1-233807114-G-A | c.849G>A | p.K283= | Synonymous | 3/3 | - | 2 |
| 1-233807110-TGAA-T | c.850_852del | p.K284del | InFrameDeletion | 3/3 | - | 1 |
| 1-233807117-G-A | c.852G>A | p.K284= | Synonymous | 3/3 | - | 1 |
| 1-233807118-G-A | c.853G>A | p.D285N | Missense | 3/3 | - | 1 |
| 1-233807123-G-A | c.858G>A | p.K286= | Synonymous | 3/3 | - | 3 |
| 1-233807124-G-A | c.859G>A | p.D287N | Missense | 3/3 | - | 1 |
| 1-233807125-A-G | c.860A>G | p.D287G | Missense | 3/3 | - | 2 |
| 1-233807127-G-A | c.862G>A | p.E288K | Missense | 3/3 | - | 1 |
| 1-233807127-G-T | c.862G>T | p.E288* | Nonsense | 3/3 | - | 1 |
| 1-233807129-G-A | c.864G>A | p.E288= | Synonymous | 3/3 | - | 2 |
| 1-233807130-G-A | c.865G>A | p.D289N | Missense | 3/3 | - | 1 |
| 1-233807133-C-T | c.868C>T | p.Q290* | Nonsense | 3/3 | - | 8 |
| 1-233807135-G-A | c.870G>A | p.Q290= | Synonymous | 3/3 | - | 1 |
| 1-233807136-G-T | c.871G>T | p.V291L | Missense | 3/3 | - | 1 |
| 1-233807142-AT-GC | c.877_878delinsGC | p.I293A | Missense | 3/3 | - | 7 |
| 1-233807144-C-T | c.879C>T | p.I293= | Synonymous | 3/3 | - | 2 |
| 1-233807145-AT-GC | c.880_881delinsGC | p.I294A | Missense | 3/3 | - | 3 |
| 1-233807148-G-C | c.883G>C | p.E295Q | Missense | 3/3 | - | 2 |
| 1-233807150-G-C | c.885G>C | p.E295D | Missense | 3/3 | - | 1 |
| 1-233807150-G-T | c.885G>T | p.E295D | Missense | 3/3 | - | 1 |
| 1-233807152-A-T | c.887A>T | p.H296L | Missense | 3/3 | - | 1 |
| 1-233807154-G-A | c.889G>A | p.D297N | Missense | 3/3 | - | 3 |
| 1-233807155-A-G | c.890A>G | p.D297G | Missense | 3/3 | - | 1 |
| 1-233807157-C-T | c.892C>T | p.Q298* | Nonsense | 3/3 | - | 3 |
| 1-233807163-T-G | c.898T>G | p.S300A | Missense | 3/3 | - | 2 |
| 1-233807165-C-A | c.900C>A | p.S300= | Synonymous | 3/3 | - | 1 |
| 1-233807165-C-G | c.900C>G | p.S300= | Synonymous | 3/3 | - | 1 |
| 1-233807165-C-T | c.900C>T | p.S300= | Synonymous | 3/3 | - | 1 |
| 1-233807164-CCTT-C | c.902_904del | p.F301del | InFrameDeletion | 3/3 | - | 1 |
| 1-233807171-C-A | c.906C>A | p.S302= | Synonymous | 3/3 | - | 1 |
| 1-233807172-TCG-AAC | c.907_909delinsAAC | p.S303N | Missense | 3/3 | - | 1 |
| 1-233807173-C-T | c.908C>T | p.S303L | Missense | 3/3 | - | 8 |
| 1-233807174-G-A | c.909G>A | p.S303= | Synonymous | 3/3 | - | 1 |
| 1-233807174-G-C | c.909G>C | p.S303= | Synonymous | 3/3 | - | 1 |
| 1-233807174-G-T | c.909G>T | p.S303= | Synonymous | 3/3 | - | 1 |
| 1-233807177-C-T | c.912C>T | p.I304= | Synonymous | 3/3 | - | 4 |
| 1-233807179-CA-TG | c.914_915inv | p.T305M | Missense | 3/3 | - | 1 |
| 1-233807180-A-C | c.915A>C | p.T305= | Synonymous | 3/3 | - | 1 |
| 1-233807180-A-G | c.915A>G | p.T305= | Synonymous | 3/3 | - | 1 |
| 1-233807180-A-T | c.915A>T | p.T305= | Synonymous | 3/3 | - | 1 |
| 1-233807181-G-C | c.916G>C | p.D306H | Missense | 3/3 | - | 1 |
| 1-233807191-C-T | c.926C>T | p.A309V | Missense | 3/3 | - | 1 |
| 1-233807193-G-A | c.928G>A | p.G310S | Missense | 3/3 | - | 4 |
| 1-233807194-G-A | c.929G>A | p.G310D | Missense | 3/3 | - | 6 |
| 1-233807198-G-A | c.933G>A | p.M311I | Missense | 3/3 | - | 1 |
| 1-233807208-CAG-TTT | c.943_945delinsTTT | p.Q315F | Missense | 3/3 | - | 1 |
| 1-233807210-G-A | c.945G>A | p.Q315= | Synonymous | 3/3 | - | 2 |
| 1-233807210-G-C | c.945G>C | p.Q315H | Missense | 3/3 | - | 1 |
| 1-233807210-G-T | c.945G>T | p.Q315H | Missense | 3/3 | - | 1 |
| 1-233807213-G-A | c.948G>A | p.K316= | Synonymous | 3/3 | - | 2 |
| 1-233807218-A-C | c.953A>C | p.N318T | Missense | 3/3 | - | 1 |
| 1-233807218-A-G | c.953A>G | p.N318S | Missense | 3/3 | - | 1 |
| 1-233807218-A-T | c.953A>T | p.N318I | Missense | 3/3 | - | 1 |
| 1-233807220-G-A | c.955G>A | p.E319K | Missense | 3/3 | - | 2 |
| 1-233807233-C-T | c.968C>T | p.A323V | Missense | 3/3 | - | 1 |
| 1-233807234-C-G | c.969C>G | p.A323= | Synonymous | 3/3 | - | 1 |
| 1-233807241-T-G | c.976T>G | p.S326A | Missense | 3/3 | - | 1 |
| 1-233807242-C-T | c.977C>T | p.S326L | Missense | 3/3 | - | 1 |
| 1-233807244-T-C | c.979T>C | p.S327P | Missense | 3/3 | - | 1 |
| 1-233807248-C-T | c.983C>T | p.A328V | Missense | 3/3 | - | 1 |
| 1-233807249-C-G | c.984C>G | p.A328= | Synonymous | 3/3 | - | 1 |
| 1-233807249-C-T | c.984C>T | p.A328= | Synonymous | 3/3 | - | 1 |
| 1-233807252-C-T | c.987C>T | p.C329= | Synonymous | 3/3 | - | 4 |
| 1-233807253-G-A | c.988G>A | p.V330M | Missense | 3/3 | - | 1 |
| 1-233807255-G-A | c.990G>A | p.V330= | Synonymous | 3/3 | - | 3 |
| 1-233807256-G-A | c.991G>A | p.D331N | Missense | 3/3 | - | 1 |
| 1-233807258-T-A | c.993T>A | p.D331E | Missense | 3/3 | - | 1 |
| 1-233807258-T-G | c.993T>G | p.D331E | Missense | 3/3 | - | 1 |
| 1-233807261-C-A | c.996C>A | p.G332= | Synonymous | 3/3 | - | 1 |
| 1-233807261-C-G | c.996C>G | p.G332= | Synonymous | 3/3 | - | 1 |
| 1-233807261-C-T | c.996C>T | p.G332= | Synonymous | 3/3 | - | 2 |
| 1-233807262-C-T | c.997C>T | p.P333S | Missense | 3/3 | - | 3 |
| 1-233807263-C-T | c.998C>T | p.P333L | Missense | 3/3 | - | 1 |
| 1-233807270-C-A | c.1005C>A | p.N335K | Missense | 3/3 | - | 1 |
| 1-233807270-C-G | c.1005C>G | p.N335K | Missense | 3/3 | - | 1 |
| 1-233807271-C-T | c.1006C>T | p.H336Y | Missense | 3/3 | - | 2 |
| 1-233807465-G-A | c.*189G>A | - | 3-UTRSNV | 3/3 | - | 6 |