| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-164528870-T-C | c.-190T>C | - | 5-UTRSNV | 1/9 | - | 5 |
| 1-164528870-T-G | c.-190T>G | - | 5-UTRSNV | 1/9 | - | 5 |
| 1-164529065-C-T | c.6C>T | p.D2= | Synonymous | 1/9 | - | 1 |
| 1-164529066-G-T | c.7G>T | p.E3* | Nonsense | 1/9 | - | 1 |
| 1-164529075-A-G | c.16A>G | p.R6G | Missense | 1/9 | - | 1 |
| 1-164529077-G-T | c.18G>T | p.R6S | Missense | 1/9 | - | 1 |
| 1-164529079-T-C | c.20T>C | p.L7P | Missense | 1/9 | - | 1 |
| 1-164529081-A-G | c.22A>G | p.M8V | Missense | 1/9 | - | 2 |
| 1-164529087-TC-CA | c.28_29delinsCA | p.S10H | Missense | 1/9 | - | 3 |
| 1-164529087-TCC-AAG | c.28_30delinsAAG | p.S10K | Missense | 1/9 | - | 1 |
| 1-164529087-TCC-ATG | c.28_30delinsATG | p.S10M | Missense | 1/9 | - | 1 |
| 1-164529087-TCC-GAG | c.28_30delinsGAG | p.S10E | Missense | 1/9 | - | 2 |
| 1-164529087-TC-GA | c.28_29inv | p.S10D | Missense | 1/9 | - | 2 |
| 1-164529087-TC-GG | c.28_29delinsGG | p.S10G | Missense | 1/9 | - | 4 |
| 1-164529087-T-G | c.28T>G | p.S10A | Missense | 1/9 | - | 10 |
| 1-164529088-C-G | c.29C>G | p.S10C | Missense | 1/9 | - | 6 |
| 1-164529088-C-T | c.29C>T | p.S10F | Missense | 1/9 | - | 3 |
| 1-164529093-G-C | c.34G>C | p.A12P | Missense | 1/9 | - | 1 |
| 1-164529093-GC-CA | c.34_35delinsCA | p.A12H | Missense | 1/9 | - | 1 |
| 1-164529093-GCT-AAG | c.34_36delinsAAG | p.A12K | Missense | 1/9 | - | 1 |
| 1-164529094-CT-AG | c.35_36inv | p.A12E | Missense | 1/9 | - | 1 |
| 1-164529095-T-A | c.36T>A | p.A12= | Synonymous | 1/9 | - | 1 |
| 1-164529095-T-C | c.36T>C | p.A12= | Synonymous | 1/9 | - | 1 |
| 1-164529095-T-G | c.36T>G | p.A12= | Synonymous | 1/9 | - | 1 |
| 1-164529097-GG-AC | c.38_39delinsAC | p.G13D | Missense | 1/9 | - | 1 |
| 1-164529105-ATG-TTT | c.46_48delinsTTT | p.M16F | Missense | 1/9 | - | 1 |
| 1-164529108-GC-CA | c.49_50delinsCA | p.A17H | Missense | 1/9 | - | 1 |
| 1-164529108-GCC-CAA | c.49_51delinsCAA | p.A17Q | Missense | 1/9 | - | 1 |
| 1-164529108-GCC-TAA | c.49_51delinsTAA | p.A17* | Nonsense | 1/9 | - | 1 |
| 1-164529109-C-A | c.50C>A | p.A17D | Missense | 1/9 | - | 1 |
| 1-164529109-C-T | c.50C>T | p.A17V | Missense | 1/9 | - | 1 |
| 1-164529120-G-A | c.61G>A | p.G21S | Missense | 1/9 | - | 44 |
| 1-164529122-C-A | c.63C>A | p.G21= | Synonymous | 1/9 | - | 1 |
| 1-164529122-C-G | c.63C>G | p.G21= | Synonymous | 1/9 | - | 1 |
| 1-164529122-C-T | c.63C>T | p.G21= | Synonymous | 1/9 | - | 1 |
| 1-164529123-C-A | c.64C>A | p.L22M | Missense | 1/9 | - | 2 |
| 1-164529126-TC-CT | c.67_68delinsCT | p.S23L | Missense | 1/9 | - | 1 |
| 1-164529126-T-G | c.67T>G | p.S23A | Missense | 1/9 | - | 1 |
| 1-164529127-C-T | c.68C>T | p.S23F | Missense | 1/9 | - | 1 |
| 1-164529134-C-T | c.75C>T | p.H25= | Synonymous | 1/9 | - | 1 |
| 1-164529136-TGCAGGATGG-T | c.79_87del | p.Q27_G29del | InFrameDeletion | 1/9 | - | 1 |
| 1-164529145-G-T | c.86G>T | p.G29V | Missense | 1/9 | - | 1 |
| 1-164529150-GGA-AGC | c.91_93delinsAGC | p.G31S | Missense | 1/9 | - | 1 |
| 1-164529151-G-C | c.92G>C | p.G31A | Missense | 1/9 | - | 1 |
| 1-164529152-A-C | c.93A>C | p.G31= | Synonymous | 1/9 | - | 1 |
| 1-164529152-A-G | c.93A>G | p.G31= | Synonymous | 1/9 | - | 1 |
| 1-164529152-A-T | c.93A>T | p.G31= | Synonymous | 1/9 | - | 1 |
| 1-164529154-G-A | c.95G>A | p.G32E | Missense | 1/9 | - | 1 |
| 1-164529154-G-T | c.95G>T | p.G32V | Missense | 1/9 | - | 1 |
| 1-164529160-A-G | c.101A>G | p.E34G | Missense | 1/9 | - | 3 |
| 1-164529160-A-T | c.101A>T | p.E34V | Missense | 1/9 | - | 1 |
| 1-164529161-G-C | c.102G>C | p.E34D | Missense | 1/9 | - | 1 |
| 1-164529161-G-T | c.102G>T | p.E34D | Missense | 1/9 | - | 1 |
| 1-164529163-G-A | c.104G>A | p.G35E | Missense | 1/9 | - | 1 |
| 1-164529166-A-G | c.107A>G | p.E36G | Missense | 1/9 | - | 2 |
| 1-164529166-A-T | c.107A>T | p.E36V | Missense | 1/9 | - | 1 |
| 1-164529168-G-A | c.109G>A | p.G37S | Missense | 1/9 | - | 1 |
| 1-164529169-G-C | c.110G>C | p.G37A | Missense | 1/9 | - | 1 |
| 1-164529170-C-A | c.111C>A | p.G37= | Synonymous | 1/9 | - | 1 |
| 1-164529170-C-G | c.111C>G | p.G37= | Synonymous | 1/9 | - | 1 |
| 1-164529170-C-T | c.111C>T | p.G37= | Synonymous | 1/9 | - | 1 |
| 1-164529171-G-A | c.112G>A | p.G38R | Missense | 1/9 | - | 1 |
| 1-164529171-G-C | c.112G>C | p.G38R | Missense | 1/9 | - | 1 |
| 1-164529171-G-T | c.112G>T | p.G38W | Missense | 1/9 | - | 1 |
| 1-164529175-G-A | c.116G>A | p.R39K | Missense | 1/9 | - | 2 |
| 1-164529176-G-T | c.117G>T | p.R39S | Missense | 1/9 | - | 1 |
| 1-164529178-A-C | c.119A>C | p.K40T | Missense | 1/9 | - | 1 |
| 1-164529185-C-A | c.126C>A | p.D42E | Missense | 1/9 | - | 1 |
| 1-164529186-AT-GC | c.127_128delinsGC | p.I43A | Missense | 1/9 | - | 1 |
| 1-164529188-T-A | c.129T>A | p.I43= | Synonymous | 1/9 | - | 1 |
| 1-164529188-T-C | c.129T>C | p.I43= | Synonymous | 1/9 | - | 2 |
| 1-164529189-G-A | c.130G>A | p.G44R | Missense | 1/9 | - | 1 |
| 1-164529191-A-C | c.132A>C | p.G44= | Synonymous | 1/9 | - | 1 |
| 1-164529191-A-G | c.132A>G | p.G44= | Synonymous | 1/9 | - | 1 |
| 1-164529191-A-T | c.132A>T | p.G44= | Synonymous | 1/9 | - | 1 |
| 1-164529195-AT-GC | c.136_137delinsGC | p.I46A | Missense | 1/9 | - | 1 |
| 1-164529198-TT-CC | c.139_140delinsCC | p.L47P | Missense | 1/9 | - | 1 |
| 1-164529198-TT-GC | c.139_140delinsGC | p.L47A | Missense | 1/9 | - | 1 |
| 1-164529204-C-T | c.145C>T | p.Q49* | Nonsense | 1/9 | - | 3 |
| 1-164529207-AT-GC | c.148_149delinsGC | p.I50A | Missense | 1/9 | - | 1 |
| 1-164529216-AT-GC | c.157_158delinsGC | p.I53A | Missense | 1/9 | - | 1 |
| 1-164529222-G-A | c.163G>A | p.D55N | Missense | 1/9 | - | 3 |
| 1-164529234-G-T | c.175G>T | p.D59Y | Missense | 1/9 | - | 1 |
| 1-164529237-G-A | c.178G>A | p.E60K | Missense | 1/9 | - | 1 |
| 1-164529239-G-A | c.180G>A | p.E60= | Synonymous | 1/9 | - | 1 |
| 1-164529239-G-T | c.180G>T | p.E60D | Missense | 1/9 | - | 1 |
| 1-164529247-C-G | c.188C>G | p.A63G | Missense | 1/9 | - | 1 |
| 1-164529284-GTTTT-G | c.191+37_191+40del | - | IntronicDeletion | - | 1/8 | 1 |
| 1-164529287-T-G | c.191+37T>G | - | IntronicSNV | - | 1/8 | 1 |
| 1-164529382-G-A | c.191+132G>A | - | IntronicSNV | - | 1/8 | 1 |
| 1-164529388-A-C | c.191+138A>C | - | IntronicSNV | - | 1/8 | 1 |
| 1-164529388-A-G | c.191+138A>G | - | IntronicSNV | - | 1/8 | 2 |
| 1-164529402-TAA-T | c.191+155_191+156del | - | IntronicDeletion | - | 1/8 | 1 |
| 1-164529471-G-C | c.191+221G>C | - | IntronicSNV | - | 1/8 | 2 |
| 1-164529473-G-C | c.191+223G>C | - | IntronicSNV | - | 1/8 | 1 |
| 1-164529666-G-A | c.191+416G>A | - | IntronicSNV | - | 1/8 | 3 |
| 1-164530130-A-G | c.191+880A>G | - | IntronicSNV | - | 1/8 | 1 |
| 1-164531781-A-G | c.192-694A>G | - | IntronicSNV | - | 1/8 | 1 |
| 1-164532325-T-C | c.192-150T>C | - | IntronicSNV | - | 1/8 | 4 |
| 1-164532452-A-G | c.192-23A>G | - | IntronicSNV | - | 1/8 | 2 |
| 1-164532475-A-G | c.192A>G | p.R64= | Synonymous | 2/9 | - | 1 |
| 1-164532476-A-C | c.193A>C | p.K65Q | Missense | 2/9 | - | 1 |
| 1-164532481-T-A | c.198T>A | p.H66Q | Missense | 2/9 | - | 1 |
| 1-164532481-T-G | c.198T>G | p.H66Q | Missense | 2/9 | - | 2 |
| 1-164532482-G-T | c.199G>T | p.A67S | Missense | 2/9 | - | 1 |
| 1-164532489-A-C | c.206A>C | p.N69T | Missense | 2/9 | - | 1 |
| 1-164532495-A-C | c.212A>C | p.H71P | Missense | 2/9 | - | 1 |
| 1-164532498-G-C | c.215G>C | p.R72T | Missense | 2/9 | - | 1 |
| 1-164532498-G-GA | c.217dup | p.M73Nfs*7 | Frameshift | 2/9 | - | 1 |
| 1-164532502-G-A | c.219G>A | p.M73I | Missense | 2/9 | - | 5 |
| 1-164532502-G-C | c.219G>C | p.M73I | Missense | 2/9 | - | 1 |
| 1-164532502-G-T | c.219G>T | p.M73I | Missense | 2/9 | - | 2 |
| 1-164532507-C-T | c.224C>T | p.P75L | Missense | 2/9 | - | 1 |
| 1-164532510-C-G | c.227C>G | p.A76G | Missense | 2/9 | - | 1 |
| 1-164532510-C-T | c.227C>T | p.A76V | Missense | 2/9 | - | 1 |
| 1-164532512-TT-GC | c.229_230delinsGC | p.L77A | Missense | 2/9 | - | 1 |
| 1-164532514-GT-G | c.234del | p.F78Lfs*13 | Frameshift | 2/9 | - | 3 |
| 1-164532519-A-AT | c.237dup | p.V80Cfs*4 | Frameshift | 2/9 | - | 1 |
| 1-164532520-T-C | c.237T>C | p.N79= | Synonymous | 2/9 | - | 1 |
| 1-164532522-T-C | c.239T>C | p.V80A | Missense | 2/9 | - | 1 |
| 1-164532524-TT-GC | c.241_242delinsGC | p.L81A | Missense | 2/9 | - | 1 |
| 1-164532525-T-C | c.242T>C | p.L81S | Missense | 2/9 | - | 1 |
| 1-164532527-T-A | c.244T>A | p.C82S | Missense | 2/9 | - | 1 |
| 1-164532528-G-C | c.245G>C | p.C82S | Missense | 2/9 | - | 1 |
| 1-164532529-T-C | c.246T>C | p.C82= | Synonymous | 2/9 | - | 1 |
| 1-164532530-G-A | c.247G>A | p.E83K | Missense | 2/9 | - | 3 |
| 1-164532530-G-C | c.247G>C | p.E83Q | Missense | 2/9 | - | 1 |
| 1-164532533-AT-GC | c.250_251delinsGC | p.I84A | Missense | 2/9 | - | 1 |
| 1-164532535-C-A | c.252C>A | p.I84= | Synonymous | 2/9 | - | 1 |
| 1-164532535-C-G | c.252C>G | p.I84M | Missense | 2/9 | - | 3 |
| 1-164532535-C-T | c.252C>T | p.I84= | Synonymous | 2/9 | - | 1 |
| 1-164532539-G-A | c.256G>A | p.E86K | Missense | 2/9 | - | 7 |
| 1-164532540-A-G | c.257A>G | p.E86G | Missense | 2/9 | - | 1 |
| 1-164532539-GA-G | c.262del | p.T88Qfs*3 | Frameshift | 2/9 | - | 3 |
| 1-164532546-C-T | c.263C>T | p.T88I | Missense | 2/9 | - | 2 |
| 1-164532548-G-T | c.265G>T | p.V89F | Missense | 2/9 | - | 3 |
| 1-164532706-TA-T | c.265+166del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164537228-G-A | c.265+4680G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164537933-TA-T | c.265+5393del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164541977-G-A | c.265+9429G>A | - | IntronicSNV | - | 2/8 | 2 |
| 1-164543961-A-G | c.265+11413A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164545174-C-T | c.265+12626C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164545778-G-A | c.265+13230G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164547894-C-A | c.265+15346C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164547894-C-G | c.265+15346C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164551930-GA-G | c.265+19384del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164553845-A-G | c.265+21297A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164555286-G-A | c.265+22738G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164556669-A-G | c.265+24121A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164557491-G-T | c.265+24943G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164559414-G-A | c.265+26866G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164559449-G-GGAA | c.265+26901_265+26902insGAA | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164559449-G-GA | c.265+26913dup | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164559536-A-C | c.265+26988A>C | - | IntronicSNV | - | 2/8 | 2 |
| 1-164559536-A-G | c.265+26988A>G | - | IntronicSNV | - | 2/8 | 4 |
| 1-164559573-C-G | c.265+27025C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164561057-T-C | c.265+28509T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164563425-A-G | c.265+30877A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164564740-C-CT | c.265+32206dup | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164564797-G-C | c.265+32249G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164565029-C-T | c.265+32481C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164565229-T-A | c.265+32681T>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164565337-CT-C | c.265+32802del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164565739-T-C | c.265+33191T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164566808-T-C | c.265+34260T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164566995-A-T | c.265+34447A>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164567482-AGTTT-A | c.265+34943_265+34946del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164567646-G-A | c.265+35098G>A | - | IntronicSNV | - | 2/8 | 2 |
| 1-164571371-C-T | c.265+38823C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164571557-G-A | c.265+39009G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164573735-C-T | c.265+41187C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164575690-A-G | c.265+43142A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164577545-G-A | c.265+44997G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164580511-G-C | c.265+47963G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164580718-G-A | c.265+48170G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164593024-C-G | c.265+60476C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164593024-C-T | c.265+60476C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164593026-T-A | c.265+60478T>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164593193-G-A | c.265+60645G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164594891-A-G | c.265+62343A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164595238-G-A | c.265+62690G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164596287-C-A | c.265+63739C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164596335-T-C | c.265+63787T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164596344-T-C | c.265+63796T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604122-G-A | c.265+71574G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604831-G-A | c.265+72283G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604857-C-A | c.265+72309C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604857-C-T | c.265+72309C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604957-T-G | c.265+72409T>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164604966-G-A | c.265+72418G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164607286-C-A | c.265+74738C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164607286-C-T | c.265+74738C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164607346-G-A | c.265+74798G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164607346-G-T | c.265+74798G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164608102-G-A | c.265+75554G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164608825-G-A | c.265+76277G>A | - | IntronicSNV | - | 2/8 | 2 |
| 1-164609582-C-T | c.265+77034C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164611689-A-G | c.265+79141A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164611974-T-C | c.265+79426T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164614297-G-GT | c.265+81754dup | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164615964-G-A | c.265+83416G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164616853-A-T | c.265+84305A>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164619466-CT-C | c.265+86935del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164619710-G-T | c.265+87162G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164619779-A-T | c.265+87231A>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164619900-G-T | c.265+87352G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164620754-C-T | c.265+88206C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164624413-C-T | c.265+91865C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164625262-G-A | c.265+92714G>A | - | IntronicSNV | - | 2/8 | 2 |
| 1-164625696-G-T | c.265+93148G>T | - | IntronicSNV | - | 2/8 | 2 |
| 1-164625911-GA-G | c.265+93373del | - | IntronicDeletion | - | 2/8 | 1 |
| 1-164627179-C-T | c.265+94631C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164627551-G-A | c.265+95003G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164637960-C-A | c.265+105412C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164637961-C-G | c.265+105413C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164638209-A-G | c.265+105661A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164638390-A-G | c.265+105842A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164638458-T-C | c.265+105910T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164649427-G-A | c.266-112304G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164651655-A-G | c.266-110076A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164651709-G-A | c.266-110022G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164655556-G-C | c.266-106175G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164655831-T-C | c.266-105900T>C | - | IntronicSNV | - | 2/8 | 2 |
| 1-164656099-T-A | c.266-105632T>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656099-T-C | c.266-105632T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656099-T-G | c.266-105632T>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656193-C-CAA | c.266-105529_266-105528dup | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164656193-C-CA | c.266-105528dup | - | IntronicInsertion | - | 2/8 | 1 |
| 1-164656204-C-A | c.266-105527C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656251-C-A | c.266-105480C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656251-C-G | c.266-105480C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164656251-C-T | c.266-105480C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164658057-T-C | c.266-103674T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164658310-T-C | c.266-103421T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164659008-C-G | c.266-102723C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164660821-C-T | c.266-100910C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164666940-G-A | c.266-94791G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164672315-G-T | c.266-89416G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164672441-G-A | c.266-89290G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164673228-G-T | c.266-88503G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164678041-C-T | c.266-83690C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164678316-C-T | c.266-83415C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164678352-G-T | c.266-83379G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164680631-G-A | c.266-81100G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164680631-G-C | c.266-81100G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164680779-C-T | c.266-80952C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164684858-T-C | c.266-76873T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164689762-G-A | c.266-71969G>A | - | IntronicSNV | - | 2/8 | 5 |
| 1-164692909-T-C | c.266-68822T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164693216-A-G | c.266-68515A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164703969-C-A | c.266-57762C>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164703969-C-G | c.266-57762C>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164703969-C-T | c.266-57762C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164708993-T-C | c.266-52738T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164714155-G-A | c.266-47576G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164718087-C-T | c.266-43644C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164718358-C-T | c.266-43373C>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164720208-A-C | c.266-41523A>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164720208-A-G | c.266-41523A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164720208-A-T | c.266-41523A>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164720820-T-C | c.266-40911T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164723835-G-T | c.266-37896G>T | - | IntronicSNV | - | 2/8 | 3 |
| 1-164730923-G-A | c.266-30808G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164730923-G-C | c.266-30808G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164730923-G-T | c.266-30808G>T | - | IntronicSNV | - | 2/8 | 1 |
| 1-164732727-G-A | c.266-29004G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164737888-A-G | c.266-23843A>G | - | IntronicSNV | - | 2/8 | 1 |
| 1-164739171-T-C | c.266-22560T>C | - | IntronicSNV | - | 2/8 | 4 |
| 1-164740099-T-C | c.266-21632T>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164743778-G-A | c.266-17953G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164743778-G-C | c.266-17953G>C | - | IntronicSNV | - | 2/8 | 1 |
| 1-164749694-G-A | c.266-12037G>A | - | IntronicSNV | - | 2/8 | 1 |
| 1-164761737-G-T | c.272G>T | p.S91I | Missense | 3/9 | - | 1 |
| 1-164761743-G-A | c.278G>A | p.R93Q | Missense | 3/9 | - | 5 |
| 1-164761749-C-A | c.284C>A | p.A95D | Missense | 3/9 | - | 1 |
| 1-164761751-C-T | c.286C>T | p.Q96* | Nonsense | 3/9 | - | 1 |
| 1-164761754-G-A | c.289G>A | p.E97K | Missense | 3/9 | - | 2 |
| 1-164761754-G-C | c.289G>C | p.E97Q | Missense | 3/9 | - | 1 |
| 1-164761757-G-A | c.292G>A | p.E98K | Missense | 3/9 | - | 1 |
| 1-164761760-G-A | c.295G>A | p.E99K | Missense | 3/9 | - | 5 |
| 1-164761762-A-G | c.297A>G | p.E99= | Synonymous | 3/9 | - | 3 |
| 1-164761762-A-T | c.297A>T | p.E99D | Missense | 3/9 | - | 1 |
| 1-164761763-C-A | c.298C>A | p.P100T | Missense | 3/9 | - | 1 |
| 1-164761769-G-A | c.304G>A | p.D102N | Missense | 3/9 | - | 1 |
| 1-164761771-C-T | c.306C>T | p.D102= | Synonymous | 3/9 | - | 1 |
| 1-164761775-C-T | c.310C>T | p.Q104* | Nonsense | 3/9 | - | 2 |
| 1-164761778-CT-GC | c.313_314delinsGC | p.L105A | Missense | 3/9 | - | 1 |
| 1-164761780-G-A | c.315G>A | p.L105= | Synonymous | 3/9 | - | 1 |
| 1-164761782-T-C | c.317T>C | p.M106T | Missense | 3/9 | - | 1 |
| 1-164761784-C-T | c.319C>T | p.R107W | Missense | 3/9 | - | 5 |
| 1-164761785-G-A | c.320G>A | p.R107Q | Missense | 3/9 | - | 2 |
| 1-164761787-C-G | c.322C>G | p.L108V | Missense | 3/9 | - | 1 |
| 1-164761787-CT-GC | c.322_323delinsGC | p.L108A | Missense | 3/9 | - | 1 |
| 1-164761790-G-A | c.325G>A | p.D109N | Missense | 3/9 | - | 3 |
| 1-164761796-A-C | c.331A>C | p.M111L | Missense | 3/9 | - | 1 |
| 1-164761796-A-G | c.331A>G | p.M111V | Missense | 3/9 | - | 4 |
| 1-164761796-A-T | c.331A>T | p.M111L | Missense | 3/9 | - | 1 |
| 1-164761798-G-C | c.333G>C | p.M111I | Missense | 3/9 | - | 1 |
| 1-164761798-G-T | c.333G>T | p.M111I | Missense | 3/9 | - | 1 |
| 1-164761799-CT-GC | c.334_335delinsGC | p.L112A | Missense | 3/9 | - | 1 |
| 1-164761802-TT-GC | c.337_338delinsGC | p.L113A | Missense | 3/9 | - | 1 |
| 1-164761802-T-TGCCGCAAC | c.337_338insGCCGCAAC | p.L113Cfs*4 | Frameshift | 3/9 | - | 1 |
| 1-164761804-A-C | c.339A>C | p.L113F | Missense | 3/9 | - | 1 |
| 1-164761805-G-T | c.340G>T | p.A114S | Missense | 3/9 | - | 1 |
| 1-164761808-G-A | c.343G>A | p.E115K | Missense | 3/9 | - | 2 |
| 1-164761813-C-A | c.348C>A | p.G116= | Synonymous | 3/9 | - | 1 |
| 1-164761813-C-G | c.348C>G | p.G116= | Synonymous | 3/9 | - | 1 |
| 1-164761813-C-T | c.348C>T | p.G116= | Synonymous | 3/9 | - | 1 |
| 1-164761814-G-A | c.349G>A | p.V117M | Missense | 3/9 | - | 6 |
| 1-164761817-G-T | c.352G>T | p.A118S | Missense | 3/9 | - | 1 |
| 1-164761818-C-G | c.353C>G | p.A118G | Missense | 3/9 | - | 1 |
| 1-164761818-C-T | c.353C>T | p.A118V | Missense | 3/9 | - | 2 |
| 1-164761819-G-A | c.354G>A | p.A118= | Synonymous | 3/9 | - | 1 |
| 1-164761820-G-A | c.355G>A | p.G119R | Missense | 3/9 | - | 1 |
| 1-164761820-G-C | c.355G>C | p.G119R | Missense | 3/9 | - | 1 |
| 1-164761821-G-A | c.356G>A | p.G119E | Missense | 3/9 | - | 1 |
| 1-164761826-G-C | c.361G>C | p.E121Q | Missense | 3/9 | - | 1 |
| 1-164761826-G-T | c.361G>T | p.E121* | Nonsense | 3/9 | - | 1 |
| 1-164761828-G-A | c.363G>A | p.E121= | Synonymous | 3/9 | - | 4 |
| 1-164761828-GA-G | c.365del | p.K122Rfs*58 | Frameshift | 3/9 | - | 1 |
| 1-164761831-G-A | c.366G>A | p.K122= | Synonymous | 3/9 | - | 3 |
| 1-164761831-G-C | c.366G>C | p.K122N | Missense | 3/9 | - | 1 |
| 1-164761831-G-T | c.366G>T | p.K122N | Missense | 3/9 | - | 1 |
| 1-164761835-G-A | c.370G>A | p.G124R | Missense | 3/9 | - | 1 |
| 1-164761835-G-C | c.370G>C | p.G124R | Missense | 3/9 | - | 1 |
| 1-164761839-G-A | c.374G>A | p.G125E | Missense | 3/9 | - | 1 |
| 1-164761842-C-T | c.377C>T | p.S126L | Missense | 3/9 | - | 4 |
| 1-164761844-G-A | c.379G>A | p.A127T | Missense | 3/9 | - | 1 |
| 1-164761845-C-G | c.380C>G | p.A127G | Missense | 3/9 | - | 1 |
| 1-164761846-G-A | c.381G>A | p.A127= | Synonymous | 3/9 | - | 1 |
| 1-164761846-G-C | c.381G>C | p.A127= | Synonymous | 3/9 | - | 1 |
| 1-164761846-G-T | c.381G>T | p.A127= | Synonymous | 3/9 | - | 1 |
| 1-164761853-G-T | c.388G>T | p.A130S | Missense | 3/9 | - | 1 |
| 1-164761854-C-A | c.389C>A | p.A130E | Missense | 3/9 | - | 1 |
| 1-164761854-C-T | c.389C>T | p.A130V | Missense | 3/9 | - | 1 |
| 1-164761855-G-A | c.390G>A | p.A130= | Synonymous | 3/9 | - | 1 |
| 1-164761855-G-C | c.390G>C | p.A130= | Synonymous | 3/9 | - | 1 |
| 1-164761855-G-T | c.390G>T | p.A130= | Synonymous | 3/9 | - | 1 |
| 1-164761857-C-T | c.392C>T | p.A131V | Missense | 3/9 | - | 1 |
| 1-164761841-TCGGCGGCAG-T | c.393_401del | p.A133_A135del | InFrameDeletion | 3/9 | - | 4 |
| 1-164761859-G-A | c.394G>A | p.A132T | Missense | 3/9 | - | 1 |
| 1-164761859-G-C | c.394G>C | p.A132P | Missense | 3/9 | - | 1 |
| 1-164761860-C-T | c.395C>T | p.A132V | Missense | 3/9 | - | 2 |
| 1-164761858-AGCGGCGGCG-A | c.396_404del | p.A133_A135del | InFrameDeletion | 3/9 | - | 1 |
| 1-164761863-C-T | c.398C>T | p.A133V | Missense | 3/9 | - | 1 |
| 1-164761864-G-A | c.399G>A | p.A133= | Synonymous | 3/9 | - | 1 |
| 1-164761864-G-T | c.399G>T | p.A133= | Synonymous | 3/9 | - | 1 |
| 1-164761863-C-CG | c.400dup | p.A134Gfs*65 | Frameshift | 3/9 | - | 1 |
| 1-164761865-G-A | c.400G>A | p.A134T | Missense | 3/9 | - | 1 |
| 1-164761866-C-T | c.401C>T | p.A134V | Missense | 3/9 | - | 2 |
| 1-164761867-G-A | c.402G>A | p.A134= | Synonymous | 3/9 | - | 1 |
| 1-164761868-G-A | c.403G>A | p.A135T | Missense | 3/9 | - | 1 |
| 1-164761868-GGCT-G | c.403_405del | p.A135del | InFrameDeletion | 3/9 | - | 1 |
| 1-164761871-T-C | c.406T>C | p.S136P | Missense | 3/9 | - | 2 |
| 1-164761875-G-T | c.410G>T | p.G137V | Missense | 3/9 | - | 3 |
| 1-164761877-G-A | c.412G>A | p.G138R | Missense | 3/9 | - | 1 |
| 1-164761876-AGGGGCAG-A | c.413_419del | p.G138Vfs*40 | Frameshift | 3/9 | - | 6 |
| 1-164761879-G-A | c.414G>A | p.G138= | Synonymous | 3/9 | - | 4 |
| 1-164761879-G-C | c.414G>C | p.G138= | Synonymous | 3/9 | - | 1 |
| 1-164761879-G-T | c.414G>T | p.G138= | Synonymous | 3/9 | - | 1 |
| 1-164761880-G-A | c.415G>A | p.A139T | Missense | 3/9 | - | 1 |
| 1-164761886-TTCA-T | c.421_423del | p.S141del | InFrameDeletion | 3/9 | - | 1 |
| 1-164761887-C-T | c.422C>T | p.S141L | Missense | 3/9 | - | 2 |
| 1-164761891-CA-C | c.428del | p.N143Tfs*37 | Frameshift | 3/9 | - | 3 |
| 1-164761895-T-C | c.430T>C | p.S144P | Missense | 3/9 | - | 1 |
| 1-164761897-A-C | c.432A>C | p.S144= | Synonymous | 3/9 | - | 2 |
| 1-164761897-A-G | c.432A>G | p.S144= | Synonymous | 3/9 | - | 2 |
| 1-164761897-A-T | c.432A>T | p.S144= | Synonymous | 3/9 | - | 2 |
| 1-164761904-C-T | c.439C>T | p.H147Y | Missense | 3/9 | - | 2 |
| 1-164761907-T-C | c.442T>C | p.S148P | Missense | 3/9 | - | 1 |
| 1-164761910-G-A | c.445G>A | p.D149N | Missense | 3/9 | - | 4 |
| 1-164761910-G-C | c.445G>C | p.D149H | Missense | 3/9 | - | 1 |
| 1-164761911-A-G | c.446A>G | p.D149G | Missense | 3/9 | - | 1 |
| 1-164761911-A-T | c.446A>T | p.D149V | Missense | 3/9 | - | 3 |
| 1-164761914-A-G | c.449A>G | p.Y150C | Missense | 3/9 | - | 1 |
| 1-164761917-G-C | c.452G>C | p.R151T | Missense | 3/9 | - | 1 |
| 1-164761920-C-G | c.455C>G | p.A152G | Missense | 3/9 | - | 2 |
| 1-164761928-T-C | c.463T>C | p.S155P | Missense | 3/9 | - | 1 |
| 1-164761929-CA-TT | c.464_465delinsTT | p.S155F | Missense | 3/9 | - | 1 |
| 1-164761936-C-G | c.471C>G | p.I157M | Missense | 3/9 | - | 1 |
| 1-164761938-G-T | c.473G>T | p.R158I | Missense | 3/9 | - | 1 |
| 1-164761946-T-C | c.481T>C | p.Y161H | Missense | 3/9 | - | 1 |
| 1-164761947-A-T | c.482A>T | p.Y161F | Missense | 3/9 | - | 2 |
| 1-164761949-C-T | c.484C>T | p.H162Y | Missense | 3/9 | - | 3 |
| 1-164761953-C-T | c.488C>T | p.T163M | Missense | 3/9 | - | 2 |
| 1-164761954-G-A | c.489G>A | p.T163= | Synonymous | 3/9 | - | 1 |
| 1-164761954-G-C | c.489G>C | p.T163= | Synonymous | 3/9 | - | 2 |
| 1-164761955-G-T | c.490G>T | p.E164* | Nonsense | 3/9 | - | 1 |
| 1-164761963-G-A | c.498G>A | p.E166= | Synonymous | 3/9 | - | 1 |
| 1-164761965-A-G | c.500A>G | p.K167R | Missense | 3/9 | - | 1 |
| 1-164761967-T-C | c.502T>C | p.Y168H | Missense | 3/9 | - | 1 |
| 1-164761970-G-T | c.505G>T | p.E169* | Nonsense | 3/9 | - | 2 |
| 1-164761973-C-T | c.508C>T | p.Q170* | Nonsense | 3/9 | - | 1 |
| 1-164761998-C-T | c.510+23C>T | - | IntronicSNV | - | 3/8 | 1 |
| 1-164762559-C-T | c.510+584C>T | - | IntronicSNV | - | 3/8 | 1 |
| 1-164766969-G-C | c.511-1967G>C | - | IntronicSNV | - | 3/8 | 1 |
| 1-164768938-C-A | c.513C>A | p.A171= | Synonymous | 4/9 | - | 1 |
| 1-164768938-C-G | c.513C>G | p.A171= | Synonymous | 4/9 | - | 1 |
| 1-164768938-C-T | c.513C>T | p.A171= | Synonymous | 4/9 | - | 1 |
| 1-164768945-G-A | c.520G>A | p.E174K | Missense | 4/9 | - | 5 |
| 1-164768946-A-T | c.521A>T | p.E174V | Missense | 4/9 | - | 1 |
| 1-164768949-T-C | c.524T>C | p.F175S | Missense | 4/9 | - | 1 |
| 1-164768954-A-C | c.529A>C | p.T177P | Missense | 4/9 | - | 2 |
| 1-164768956-C-T | c.531C>T | p.T177= | Synonymous | 4/9 | - | 1 |
| 1-164768957-C-T | c.532C>T | p.H178Y | Missense | 4/9 | - | 1 |
| 1-164768966-A-G | c.541A>G | p.N181D | Missense | 4/9 | - | 1 |
| 1-164768969-C-T | c.544C>T | p.L182F | Missense | 4/9 | - | 1 |
| 1-164768971-C-T | c.546C>T | p.L182= | Synonymous | 4/9 | - | 1 |
| 1-164768972-C-A | c.547C>A | p.L183M | Missense | 4/9 | - | 1 |
| 1-164768972-C-T | c.547C>T | p.L183= | Synonymous | 4/9 | - | 1 |
| 1-164768973-T-C | c.548T>C | p.L183P | Missense | 4/9 | - | 1 |
| 1-164768975-C-T | c.550C>T | p.R184* | Nonsense | 4/9 | - | 8 |
| 1-164768976-G-A | c.551G>A | p.R184Q | Missense | 4/9 | - | 1 |
| 1-164768976-G-C | c.551G>C | p.R184P | Missense | 4/9 | - | 3 |
| 1-164768976-G-GA | c.552dup | p.E185Rfs*14 | Frameshift | 4/9 | - | 1 |
| 1-164768979-A-C | c.554A>C | p.E185A | Missense | 4/9 | - | 1 |
| 1-164768985-G-A | c.560G>A | p.S187N | Missense | 4/9 | - | 1 |
| 1-164768985-G-T | c.560G>T | p.S187I | Missense | 4/9 | - | 1 |
| 1-164768986-C-T | c.561C>T | p.S187= | Synonymous | 4/9 | - | 1 |
| 1-164768988-G-T | c.563G>T | p.R188L | Missense | 4/9 | - | 1 |
| 1-164768989-G-A | c.564G>A | p.R188= | Synonymous | 4/9 | - | 1 |
| 1-164768990-AC-A | c.567del | p.R190Gfs*34 | Frameshift | 4/9 | - | 1 |
| 1-164768994-G-C | c.569G>C | p.R190T | Missense | 4/9 | - | 1 |
| 1-164769003-C-T | c.578C>T | p.S193F | Missense | 4/9 | - | 2 |
| 1-164769004-C-A | c.579C>A | p.S193= | Synonymous | 4/9 | - | 1 |
| 1-164769004-C-G | c.579C>G | p.S193= | Synonymous | 4/9 | - | 1 |
| 1-164769004-C-T | c.579C>T | p.S193= | Synonymous | 4/9 | - | 4 |
| 1-164769010-G-A | c.585G>A | p.K195= | Synonymous | 4/9 | - | 2 |
| 1-164769010-G-GT | c.585_586insT | p.E196* | Nonsense | 4/9 | - | 1 |
| 1-164769011-G-A | c.586G>A | p.E196K | Missense | 4/9 | - | 3 |
| 1-164769013-G-T | c.588G>T | p.E196D | Missense | 4/9 | - | 1 |
| 1-164769014-AT-GC | c.589_590delinsGC | p.I197A | Missense | 4/9 | - | 1 |
| 1-164769020-C-T | c.595C>T | p.R199W | Missense | 4/9 | - | 1 |
| 1-164769025-G-A | c.600G>A | p.M200I | Missense | 4/9 | - | 1 |
| 1-164769025-G-C | c.600G>C | p.M200I | Missense | 4/9 | - | 1 |
| 1-164769025-G-T | c.600G>T | p.M200I | Missense | 4/9 | - | 1 |
| 1-164769027-T-G | c.602T>G | p.V201G | Missense | 4/9 | - | 1 |
| 1-164769031-C-T | c.606C>T | p.S202= | Synonymous | 4/9 | - | 2 |
| 1-164769034-C-G | c.609C>G | p.I203M | Missense | 4/9 | - | 1 |
| 1-164769034-C-T | c.609C>T | p.I203= | Synonymous | 4/9 | - | 1 |
| 1-164769035-AT-GC | c.610_611delinsGC | p.I204A | Missense | 4/9 | - | 1 |
| 1-164769039-A-G | c.614A>G | p.H205R | Missense | 4/9 | - | 3 |
| 1-164769039-A-T | c.614A>T | p.H205L | Missense | 4/9 | - | 1 |
| 1-164769040-C-A | c.615C>A | p.H205Q | Missense | 4/9 | - | 1 |
| 1-164769040-C-G | c.615C>G | p.H205Q | Missense | 4/9 | - | 1 |
| 1-164769040-C-T | c.615C>T | p.H205= | Synonymous | 4/9 | - | 1 |
| 1-164769041-C-T | c.616C>T | p.R206C | Missense | 4/9 | - | 1 |
| 1-164769042-G-C | c.617G>C | p.R206P | Missense | 4/9 | - | 2 |
| 1-164769046-AG-A | c.621del | p.K207Nfs*17 | Frameshift | 4/9 | - | 1 |
| 1-164769049-C-T | c.624C>T | p.F208= | Synonymous | 4/9 | - | 2 |
| 1-164769050-A-T | c.625A>T | p.S209C | Missense | 4/9 | - | 1 |
| 1-164769051-G-C | c.626G>C | p.S209T | Missense | 4/9 | - | 1 |
| 1-164769055-C-T | c.630C>T | p.S210= | Synonymous | 4/9 | - | 3 |
| 1-164769056-AT-GC | c.631_632delinsGC | p.I211A | Missense | 4/9 | - | 1 |
| 1-164769061-G-A | c.636G>A | p.Q212= | Synonymous | 4/9 | - | 1 |
| 1-164769067-G-T | c.642G>T | p.Q214H | Missense | 4/9 | - | 1 |
| 1-164769076-G-A | c.651G>A | p.Q217= | Synonymous | 4/9 | - | 1 |
| 1-164769079-C-A | c.654C>A | p.S218R | Missense | 4/9 | - | 1 |
| 1-164769080-A-C | c.655A>C | p.T219P | Missense | 4/9 | - | 1 |
| 1-164769081-C-T | c.656C>T | p.T219M | Missense | 4/9 | - | 3 |
| 1-164769082-G-A | c.657G>A | p.T219= | Synonymous | 4/9 | - | 4 |
| 1-164769082-G-C | c.657G>C | p.T219= | Synonymous | 4/9 | - | 1 |
| 1-164769082-G-T | c.657G>T | p.T219= | Synonymous | 4/9 | - | 2 |
| 1-164769085-C-T | c.660C>T | p.C220= | Synonymous | 4/9 | - | 1 |
| 1-164769086-G-A | c.661G>A | p.E221K | Missense | 4/9 | - | 2 |
| 1-164769086-G-T | c.661G>T | p.E221* | Nonsense | 4/9 | - | 4 |
| 1-164769088-G-A | c.663G>A | p.E221= | Synonymous | 4/9 | - | 1 |
| 1-164769091-G-A | c.666G>A | p.A222= | Synonymous | 4/9 | - | 1 |
| 1-164769092-G-T | c.667G>T | p.V223L | Missense | 4/9 | - | 1 |
| 1-164769096-T-A | c.671T>A | p.M224K | Missense | 4/9 | - | 4 |
| 1-164769100-C-A | c.675C>A | p.I225= | Synonymous | 4/9 | - | 1 |
| 1-164769100-C-T | c.675C>T | p.I225= | Synonymous | 4/9 | - | 5 |
| 1-164769104-CGT-TGG | c.679_681delinsTGG | p.R227W | Missense | 4/9 | - | 1 |
| 1-164769104-C-T | c.679C>T | p.R227C | Missense | 4/9 | - | 1 |
| 1-164769105-G-A | c.680G>A | p.R227H | Missense | 4/9 | - | 3 |
| 1-164769105-G-C | c.680G>C | p.R227P | Missense | 4/9 | - | 4 |
| 1-164769109-C-T | c.684C>T | p.S228= | Synonymous | 4/9 | - | 1 |
| 1-164769111-G-A | c.686G>A | p.R229Q | Missense | 4/9 | - | 5 |
| 1-164769113-T-C | c.688T>C | p.F230L | Missense | 4/9 | - | 1 |
| 1-164769115-T-A | c.690T>A | p.F230L | Missense | 4/9 | - | 1 |
| 1-164769115-T-G | c.690T>G | p.F230L | Missense | 4/9 | - | 1 |
| 1-164769116-C-T | c.691C>T | p.L231= | Synonymous | 4/9 | - | 1 |
| 1-164769117-T-C | c.692T>C | p.L231P | Missense | 4/9 | - | 1 |
| 1-164769120-A-T | c.695A>T | p.D232V | Missense | 4/9 | - | 2 |
| 1-164769122-G-T | c.697G>T | p.A233S | Missense | 4/9 | - | 4 |
| 1-164769123-C-A | c.698C>A | p.A233E | Missense | 4/9 | - | 2 |
| 1-164769123-C-T | c.698C>T | p.A233V | Missense | 4/9 | - | 3 |
| 1-164769125-C-T | c.700C>T | p.R234W | Missense | 4/9 | - | 1 |
| 1-164769126-G-A | c.701G>A | p.R234Q | Missense | 4/9 | - | 8 |
| 1-164769126-G-C | c.701G>C | p.R234P | Missense | 4/9 | - | 8 |
| 1-164769127-G-A | c.701+1G>A | - | IntronicSNV | - | 4/8 | 1 |
| 1-164769127-G-T | c.701+1G>T | - | IntronicSNV | - | 4/8 | 1 |
| 1-164776780-C-T | c.703C>T | p.R235W | Missense | 5/9 | - | 1 |
| 1-164776781-G-A | c.704G>A | p.R235Q | Missense | 5/9 | - | 13 |
| 1-164776781-GG-AT | c.704_705delinsAT | p.R235H | Missense | 5/9 | - | 1 |
| 1-164776782-G-T | c.705G>T | p.R235= | Synonymous | 5/9 | - | 1 |
| 1-164776786-A-T | c.709A>T | p.R237* | Nonsense | 5/9 | - | 1 |
| 1-164776786-A-C | c.709A>C | p.R237= | Synonymous | 5/9 | - | 1 |
| 1-164776788-A-G | c.711A>G | p.R237= | Synonymous | 5/9 | - | 2 |
| 1-164776789-C-T | c.712C>T | p.R238W | Missense | 5/9 | - | 5 |
| 1-164776790-G-A | c.713G>A | p.R238Q | Missense | 5/9 | - | 6 |
| 1-164776790-G-C | c.713G>C | p.R238P | Missense | 5/9 | - | 1 |
| 1-164776790-GG-AT | c.713_714delinsAT | p.R238H | Missense | 5/9 | - | 1 |
| 1-164776805-A-G | c.728A>G | p.Q243R | Missense | 5/9 | - | 1 |
| 1-164776808-C-T | c.731C>T | p.A244V | Missense | 5/9 | - | 1 |
| 1-164776820-T-C | c.743T>C | p.L248P | Missense | 5/9 | - | 1 |
| 1-164776824-T-C | c.747T>C | p.N249= | Synonymous | 5/9 | - | 1 |
| 1-164776825-G-A | c.748G>A | p.E250K | Missense | 5/9 | - | 1 |
| 1-164776825-G-C | c.748G>C | p.E250Q | Missense | 5/9 | - | 1 |
| 1-164776826-A-T | c.749A>T | p.E250V | Missense | 5/9 | - | 1 |
| 1-164776829-AT-A | c.755del | p.F252Sfs*18 | Frameshift | 5/9 | - | 1 |
| 1-164776836-T-C | c.759T>C | p.Y253= | Synonymous | 5/9 | - | 1 |
| 1-164776837-T-C | c.760T>C | p.S254P | Missense | 5/9 | - | 1 |
| 1-164776839-C-T | c.762C>T | p.S254= | Synonymous | 5/9 | - | 3 |
| 1-164776845-C-A | c.768C>A | p.L256= | Synonymous | 5/9 | - | 1 |
| 1-164776845-C-G | c.768C>G | p.L256= | Synonymous | 5/9 | - | 1 |
| 1-164776845-C-T | c.768C>T | p.L256= | Synonymous | 5/9 | - | 1 |
| 1-164776849-A-T | c.772A>T | p.N258Y | Missense | 5/9 | - | 8 |
| 1-164776851-C-T | c.774C>T | p.N258= | Synonymous | 5/9 | - | 2 |
| 1-164776852-C-A | c.775C>A | p.P259T | Missense | 5/9 | - | 1 |
| 1-164776854-T-A | c.777T>A | p.P259= | Synonymous | 5/9 | - | 1 |
| 1-164776855-T-C | c.778T>C | p.Y260H | Missense | 5/9 | - | 2 |
| 1-164776856-A-G | c.779A>G | p.Y260C | Missense | 5/9 | - | 1 |
| 1-164776856-A-AC | c.783dup | p.S262Qfs*2 | Frameshift | 5/9 | - | 4 |
| 1-164776860-C-T | c.783C>T | p.P261= | Synonymous | 5/9 | - | 2 |
| 1-164776861-A-G | c.784A>G | p.S262G | Missense | 5/9 | - | 2 |
| 1-164776861-AGT-CAA | c.784_786delinsCAA | p.S262Q | Missense | 5/9 | - | 1 |
| 1-164776862-G-C | c.785G>C | p.S262T | Missense | 5/9 | - | 1 |
| 1-164776864-G-A | c.787G>A | p.E263K | Missense | 5/9 | - | 2 |
| 1-164776866-G-A | c.789G>A | p.E263= | Synonymous | 5/9 | - | 1 |
| 1-164776867-G-C | c.790G>C | p.E264Q | Missense | 5/9 | - | 1 |
| 1-164776871-C-T | c.794C>T | p.A265V | Missense | 5/9 | - | 1 |
| 1-164776873-A-T | c.796A>T | p.K266* | Nonsense | 5/9 | - | 2 |
| 1-164776876-G-C | c.799G>C | p.E267Q | Missense | 5/9 | - | 1 |
| 1-164776878-G-C | c.801G>C | p.E267D | Missense | 5/9 | - | 1 |
| 1-164776878-G-T | c.801G>T | p.E267D | Missense | 5/9 | - | 3 |
| 1-164776879-G-A | c.802G>A | p.E268K | Missense | 5/9 | - | 1 |
| 1-164776882-T-C | c.805T>C | p.L269= | Synonymous | 5/9 | - | 2 |
| 1-164776884-A-G | c.807A>G | p.L269= | Synonymous | 5/9 | - | 2 |
| 1-164776884-A-T | c.807A>T | p.L269F | Missense | 5/9 | - | 1 |
| 1-164776886-C-T | c.809C>T | p.A270V | Missense | 5/9 | - | 1 |
| 1-164776890-G-T | c.813G>T | p.K271N | Missense | 5/9 | - | 2 |
| 1-164776895-G-A | c.818G>A | p.C273Y | Missense | 5/9 | - | 2 |
| 1-164776896-T-C | c.819T>C | p.C273= | Synonymous | 5/9 | - | 1 |
| 1-164776899-C-T | c.822C>T | p.G274= | Synonymous | 5/9 | - | 1 |
| 1-164776904-C-T | c.827C>T | p.T276I | Missense | 5/9 | - | 1 |
| 1-164776906-G-T | c.829G>T | p.V277F | Missense | 5/9 | - | 1 |
| 1-164776910-C-T | c.833C>T | p.S278F | Missense | 5/9 | - | 3 |
| 1-164776909-TCC-T | c.834_835del | p.Q279Gfs*8 | Frameshift | 5/9 | - | 1 |
| 1-164776911-C-T | c.834C>T | p.S278= | Synonymous | 5/9 | - | 1 |
| 1-164776913-A-C | c.836A>C | p.Q279P | Missense | 5/9 | - | 1 |
| 1-164776913-A-G | c.836A>G | p.Q279R | Missense | 5/9 | - | 2 |
| 1-164776928-CAA-C | c.837+17_837+18del | - | IntronicDeletion | - | 5/8 | 1 |
| 1-164776947-C-T | c.837+33C>T | - | IntronicSNV | - | 5/8 | 1 |
| 1-164781015-A-C | c.838-212A>C | - | IntronicSNV | - | 5/8 | 1 |
| 1-164781110-A-AATACAAG | c.838-117_838-116insATACAAG | - | IntronicInsertion | - | 5/8 | 4 |
| 1-164781110-A-AATATAAG | c.838-117_838-116insATATAAG | - | IntronicInsertion | - | 5/8 | 4 |
| 1-164781110-A-AATGTAAG | c.838-117_838-116insATGTAAG | - | IntronicInsertion | - | 5/8 | 4 |
| 1-164781111-T-TATATAAG | c.838-115_838-114insTATAAGA | - | IntronicInsertion | - | 5/8 | 1 |
| 1-164781228-T-A | c.839T>A | p.V280E | Missense | 6/9 | - | 1 |
| 1-164781236-T-A | c.847T>A | p.W283R | Missense | 6/9 | - | 1 |
| 1-164781236-T-C | c.847T>C | p.W283R | Missense | 6/9 | - | 1 |
| 1-164781237-G-A | c.848G>A | p.W283* | Nonsense | 6/9 | - | 1 |
| 1-164781237-G-C | c.848G>C | p.W283S | Missense | 6/9 | - | 1 |
| 1-164781238-G-C | c.849G>C | p.W283C | Missense | 6/9 | - | 1 |
| 1-164781238-G-T | c.849G>T | p.W283C | Missense | 6/9 | - | 2 |
| 1-164781239-T-C | c.850T>C | p.F284L | Missense | 6/9 | - | 1 |
| 1-164781241-T-A | c.852T>A | p.F284L | Missense | 6/9 | - | 1 |
| 1-164781241-T-G | c.852T>G | p.F284L | Missense | 6/9 | - | 1 |
| 1-164781242-G-A | c.853G>A | p.G285R | Missense | 6/9 | - | 1 |
| 1-164781242-G-C | c.853G>C | p.G285R | Missense | 6/9 | - | 1 |
| 1-164781243-G-A | c.854G>A | p.G285E | Missense | 6/9 | - | 1 |
| 1-164781251-C-A | c.862C>A | p.R288= | Synonymous | 6/9 | - | 1 |
| 1-164781251-CGA-TGT | c.862_864delinsTGT | p.R288C | Missense | 6/9 | - | 1 |
| 1-164781251-C-T | c.862C>T | p.R288* | Nonsense | 6/9 | - | 8 |
| 1-164781253-A-C | c.864A>C | p.R288= | Synonymous | 6/9 | - | 1 |
| 1-164781253-A-G | c.864A>G | p.R288= | Synonymous | 6/9 | - | 1 |
| 1-164781253-A-T | c.864A>T | p.R288= | Synonymous | 6/9 | - | 1 |
| 1-164781252-G-A | c.863G>A | p.R288Q | Missense | 6/9 | - | 6 |
| 1-164781257-C-T | c.868C>T | p.R290W | Missense | 6/9 | - | 4 |
| 1-164781258-G-A | c.869G>A | p.R290Q | Missense | 6/9 | - | 2 |
| 1-164781258-G-C | c.869G>C | p.R290P | Missense | 6/9 | - | 1 |
| 1-164781258-GG-AT | c.869_870delinsAT | p.R290H | Missense | 6/9 | - | 1 |
| 1-164781257-CG-C | c.870del | p.Y291Tfs*5 | Frameshift | 6/9 | - | 1 |
| 1-164781263-A-G | c.874A>G | p.K292E | Missense | 6/9 | - | 1 |
| 1-164781264-A-C | c.875A>C | p.K292T | Missense | 6/9 | - | 2 |
| 1-164781268-G-T | c.879G>T | p.K293N | Missense | 6/9 | - | 1 |
| 1-164781272-ATA-TTT | c.883_885delinsTTT | p.I295F | Missense | 6/9 | - | 1 |
| 1-164781277-T-A | c.888T>A | p.G296= | Synonymous | 6/9 | - | 1 |
| 1-164781279-A-T | c.890A>T | p.K297I | Missense | 6/9 | - | 1 |
| 1-164781287-G-A | c.898G>A | p.E300K | Missense | 6/9 | - | 2 |
| 1-164781287-G-T | c.898G>T | p.E300* | Nonsense | 6/9 | - | 1 |
| 1-164781290-G-A | c.901G>A | p.E301K | Missense | 6/9 | - | 1 |
| 1-164781293-G-A | c.904G>A | p.A302T | Missense | 6/9 | - | 1 |
| 1-164781294-C-G | c.905C>G | p.A302G | Missense | 6/9 | - | 1 |
| 1-164781297-A-G | c.908A>G | p.N303S | Missense | 6/9 | - | 1 |
| 1-164781302-TAT-GAG | c.913_915delinsGAG | p.Y305E | Missense | 6/9 | - | 1 |
| 1-164781308-G-T | c.919G>T | p.A307S | Missense | 6/9 | - | 2 |
| 1-164781317-G-C | c.928G>C | p.A310P | Missense | 6/9 | - | 1 |
| 1-164781323-ACT-TAA | c.934_936delinsTAA | p.T312* | Nonsense | 6/9 | - | 1 |
| 1-164781326-G-A | c.937G>A | p.A313T | Missense | 6/9 | - | 1 |
| 1-164781326-G-T | c.937G>T | p.A313S | Missense | 6/9 | - | 1 |
| 1-164781327-C-T | c.938C>T | p.A313V | Missense | 6/9 | - | 1 |
| 1-164781329-A-G | c.940A>G | p.T314A | Missense | 6/9 | - | 1 |
| 1-164781329-A-T | c.940A>T | p.T314S | Missense | 6/9 | - | 2 |
| 1-164781330-C-G | c.941C>G | p.T314S | Missense | 6/9 | - | 1 |
| 1-164781330-C-T | c.941C>T | p.T314I | Missense | 6/9 | - | 1 |
| 1-164781339-C-G | c.950C>G | p.S317* | Nonsense | 6/9 | - | 1 |
| 1-164781342-C-A | c.953C>A | p.A318D | UnclassifiedSNV | 6/9 | - | 2 |
| 1-164781342-C-T | c.953C>T | p.A318V | Missense | 6/9 | - | 1 |
| 1-164781344-C-T | c.955C>T | p.H319Y | Missense | 6/9 | - | 4 |
| 1-164781348-G-A | c.959G>A | p.G320E | Missense | 6/9 | - | 2 |
| 1-164781352-C-T | c.963C>T | p.S321= | Synonymous | 6/9 | - | 1 |
| 1-164781361-C-T | c.972C>T | p.N324= | Synonymous | 6/9 | - | 1 |
| 1-164781363-C-T | c.974C>T | p.S325L | Missense | 6/9 | - | 3 |
| 1-164781365-C-G | c.976C>G | p.P326A | Missense | 6/9 | - | 2 |
| 1-164781371-AC-TG | c.982_983delinsTG | p.T328C | Missense | 6/9 | - | 1 |
| 1-164781371-A-G | c.982A>G | p.T328A | Missense | 6/9 | - | 2 |
| 1-164781374-C-T | c.985C>T | p.P329S | Missense | 6/9 | - | 1 |
| 1-164781376-C-A | c.987C>A | p.P329= | Synonymous | 6/9 | - | 1 |
| 1-164781376-C-G | c.987C>G | p.P329= | Synonymous | 6/9 | - | 1 |
| 1-164781376-C-T | c.987C>T | p.P329= | Synonymous | 6/9 | - | 1 |
| 1-164781380-T-G | c.991T>G | p.S331A | Missense | 6/9 | - | 1 |
| 1-164781381-C-A | c.992C>A | p.S331* | Nonsense | 6/9 | - | 1 |
| 1-164781381-C-T | c.992C>T | p.S331L | Missense | 6/9 | - | 1 |
| 1-164781388-T-C | c.997+2T>C | - | IntronicSNV | - | 6/8 | 2 |
| 1-164781390-A-C | c.997+4A>C | - | IntronicSNV | - | 6/8 | 1 |
| 1-164781411-T-G | c.997+25T>G | - | IntronicSNV | - | 6/8 | 1 |
| 1-164781692-G-A | c.997+306G>A | - | IntronicSNV | - | 6/8 | 2 |
| 1-164782006-A-G | c.997+620A>G | - | IntronicSNV | - | 6/8 | 1 |
| 1-164788638-T-C | c.998-671T>C | - | IntronicSNV | - | 6/8 | 1 |
| 1-164788669-A-T | c.998-640A>T | - | IntronicSNV | - | 6/8 | 1 |
| 1-164789309-G-A | c.998G>A | p.G333D | Missense | 7/9 | - | 2 |
| 1-164789315-C-T | c.1004C>T | p.S335F | Missense | 7/9 | - | 2 |
| 1-164789320-T-C | c.1009T>C | p.S337P | Missense | 7/9 | - | 1 |
| 1-164789320-TC-CT | c.1009_1010delinsCT | p.S337L | Missense | 7/9 | - | 5 |
| 1-164789321-C-T | c.1010C>T | p.S337F | Missense | 7/9 | - | 4 |
| 1-164789324-T-G | c.1013T>G | p.F338C | Missense | 7/9 | - | 2 |
| 1-164789329-A-G | c.1018A>G | p.M340V | Missense | 7/9 | - | 1 |
| 1-164789335-A-G | c.1024A>G | p.N342D | Missense | 7/9 | - | 1 |
| 1-164789338-T-A | c.1027T>A | p.S343T | Missense | 7/9 | - | 1 |
| 1-164789338-TC-AA | c.1027_1028delinsAA | p.S343N | Missense | 7/9 | - | 1 |
| 1-164789339-C-A | c.1028C>A | p.S343Y | Missense | 7/9 | - | 1 |
| 1-164789339-C-G | c.1028C>G | p.S343C | Missense | 7/9 | - | 3 |
| 1-164789340-T-C | c.1029T>C | p.S343= | Synonymous | 7/9 | - | 1 |
| 1-164789342-G-T | c.1031G>T | p.G344V | Missense | 7/9 | - | 3 |
| 1-164789343-A-C | c.1032A>C | p.G344= | Synonymous | 7/9 | - | 1 |
| 1-164789343-A-G | c.1032A>G | p.G344= | Synonymous | 7/9 | - | 1 |
| 1-164789343-A-T | c.1032A>T | p.G344= | Synonymous | 7/9 | - | 2 |
| 1-164789344-G-A | c.1033G>A | p.D345N | Missense | 7/9 | - | 1 |
| 1-164789349-G-T | c.1038G>T | p.L346F | Missense | 7/9 | - | 3 |
| 1-164789350-T-C | c.1039T>C | p.F347L | Missense | 7/9 | - | 1 |
| 1-164789352-C-A | c.1041C>A | p.F347L | Missense | 7/9 | - | 1 |
| 1-164789352-C-G | c.1041C>G | p.F347L | Missense | 7/9 | - | 1 |
| 1-164789352-C-T | c.1041C>T | p.F347= | Synonymous | 7/9 | - | 1 |
| 1-164789355-G-C | c.1044G>C | p.M348I | Missense | 7/9 | - | 1 |
| 1-164789358-C-T | c.1047C>T | p.S349= | Synonymous | 7/9 | - | 1 |
| 1-164789359-G-A | c.1048G>A | p.V350M | Missense | 7/9 | - | 2 |
| 1-164789362-C-T | c.1051C>T | p.Q351* | Nonsense | 7/9 | - | 1 |
| 1-164789364-G-A | c.1053G>A | p.Q351= | Synonymous | 7/9 | - | 1 |
| 1-164789369-T-G | c.1058T>G | p.L353R | Missense | 7/9 | - | 3 |
| 1-164789372-A-G | c.1061A>G | p.N354S | Missense | 7/9 | - | 1 |
| 1-164789374-G-A | c.1063G>A | p.G355R | Missense | 7/9 | - | 1 |
| 1-164789374-G-C | c.1063G>C | p.G355R | Missense | 7/9 | - | 1 |
| 1-164789375-G-T | c.1064G>T | p.G355V | Missense | 7/9 | - | 1 |
| 1-164789376-G-A | c.1065G>A | p.G355= | Synonymous | 7/9 | - | 3 |
| 1-164789377-G-A | c.1066G>A | p.D356N | Missense | 7/9 | - | 6 |
| 1-164789377-G-T | c.1066G>T | p.D356Y | Missense | 7/9 | - | 2 |
| 1-164789378-A-T | c.1067A>T | p.D356V | Missense | 7/9 | - | 1 |
| 1-164789381-C-T | c.1070C>T | p.S357F | Missense | 7/9 | - | 1 |
| 1-164789385-C-T | c.1074C>T | p.Y358= | Synonymous | 7/9 | - | 2 |
| 1-164789386-C-G | c.1075C>G | p.Q359E | Missense | 7/9 | - | 3 |
| 1-164789389-G-T | c.1078G>T | p.G360W | Missense | 7/9 | - | 1 |
| 1-164789390-G-A | c.1079G>A | p.G360E | Missense | 7/9 | - | 2 |
| 1-164789390-G-T | c.1079G>T | p.G360V | Missense | 7/9 | - | 2 |
| 1-164789392-G-A | c.1081G>A | p.A361T | Missense | 7/9 | - | 2 |
| 1-164789392-G-T | c.1081G>T | p.A361S | Missense | 7/9 | - | 1 |
| 1-164789393-C-T | c.1082C>T | p.A361V | Missense | 7/9 | - | 1 |
| 1-164789396-A-G | c.1085A>G | p.Q362R | Missense | 7/9 | - | 2 |
| 1-164789399-T-C | c.1088T>C | p.V363A | Missense | 7/9 | - | 2 |
| 1-164789402-G-A | c.1091G>A | p.G364E | Missense | 7/9 | - | 6 |
| 1-164789404-G-A | c.1093G>A | p.A365T | Missense | 7/9 | - | 4 |
| 1-164789405-C-A | c.1094C>A | p.A365D | Missense | 7/9 | - | 1 |
| 1-164789405-C-T | c.1094C>T | p.A365V | Missense | 7/9 | - | 1 |
| 1-164789409-C-T | c.1098C>T | p.N366= | Synonymous | 7/9 | - | 1 |
| 1-164789410-G-A | c.1099G>A | p.V367M | Missense | 7/9 | - | 1 |
| 1-164789414-A-T | c.1103A>T | p.Q368L | Missense | 7/9 | - | 1 |
| 1-164789415-A-G | c.1104A>G | p.Q368= | Synonymous | 7/9 | - | 1 |
| 1-164789420-A-T | c.1109A>T | p.Q370L | Missense | 7/9 | - | 2 |
| 1-164789444-A-G | c.1110+23A>G | - | IntronicSNV | - | 7/8 | 8 |
| 1-164790567-C-CT | c.1111-207_1111-206insT | - | IntronicInsertion | - | 7/8 | 3 |
| 1-164790777-G-C | c.1114G>C | p.D372H | Missense | 8/9 | - | 2 |
| 1-164790779-T-C | c.1116T>C | p.D372= | Synonymous | 8/9 | - | 1 |
| 1-164790781-C-T | c.1118C>T | p.T373I | Missense | 8/9 | - | 1 |
| 1-164790786-C-T | c.1123C>T | p.R375C | Missense | 8/9 | - | 10 |
| 1-164790787-G-A | c.1124G>A | p.R375H | Missense | 8/9 | - | 1 |
| 1-164790788-C-T | c.1125C>T | p.R375= | Synonymous | 8/9 | - | 1 |
| 1-164790789-C-T | c.1126C>T | p.H376Y | Missense | 8/9 | - | 1 |
| 1-164790795-A-G | c.1132A>G | p.I378V | Missense | 8/9 | - | 1 |
| 1-164790795-A-T | c.1132A>T | p.I378F | Missense | 8/9 | - | 1 |
| 1-164790797-C-T | c.1134C>T | p.I378= | Synonymous | 8/9 | - | 1 |
| 1-164790798-A-G | c.1135A>G | p.S379G | Missense | 8/9 | - | 1 |
| 1-164790805-C-T | c.1142C>T | p.T381I | Missense | 8/9 | - | 3 |
| 1-164790808-G-A | c.1145G>A | p.G382E | Missense | 8/9 | - | 7 |
| 1-164790810-G-A | c.1147G>A | p.G383R | Missense | 8/9 | - | 1 |
| 1-164790811-G-A | c.1148G>A | p.G383E | Missense | 8/9 | - | 1 |
| 1-164790814-A-G | c.1151A>G | p.Y384C | Missense | 8/9 | - | 1 |
| 1-164790814-A-T | c.1151A>T | p.Y384F | Missense | 8/9 | - | 1 |
| 1-164790819-G-A | c.1156G>A | p.D386N | Missense | 8/9 | - | 1 |
| 1-164790823-G-A | c.1160G>A | p.G387E | Missense | 8/9 | - | 1 |
| 1-164790823-G-T | c.1160G>T | p.G387V | Missense | 8/9 | - | 3 |
| 1-164790827-C-T | c.1164C>T | p.L388= | Synonymous | 8/9 | - | 1 |
| 1-164790828-G-A | c.1165G>A | p.A389T | Missense | 8/9 | - | 3 |
| 1-164790831-G-A | c.1168G>A | p.A390T | Missense | 8/9 | - | 1 |
| 1-164790834-A-T | c.1171A>T | p.S391C | Missense | 8/9 | - | 1 |
| 1-164790835-G-T | c.1172G>T | p.S391I | Missense | 8/9 | - | 1 |
| 1-164790839-G-C | c.1176G>C | p.Q392H | Missense | 8/9 | - | 1 |
| 1-164790842-G-T | c.1179G>T | p.M393I | Missense | 8/9 | - | 1 |
| 1-164790850-C-A | c.1187C>A | p.P396Q | Missense | 8/9 | - | 1 |
| 1-164790850-C-T | c.1187C>T | p.P396L | Missense | 8/9 | - | 5 |
| 1-164790855-G-A | c.1192G>A | p.G398S | Missense | 8/9 | - | 2 |
| 1-164790856-G-A | c.1193G>A | p.G398D | Missense | 8/9 | - | 1 |
| 1-164790860-C-T | c.1197C>T | p.I399= | Synonymous | 8/9 | - | 1 |
| 1-164790862-G-A | c.1199G>A | p.S400N | Missense | 8/9 | - | 1 |
| 1-164790864-G-T | c.1200+1G>T | - | IntronicSNV | - | 8/8 | 1 |
| 1-164790929-C-T | c.1200+66C>T | - | IntronicSNV | - | 8/8 | 1 |
| 1-164791030-CA-C | c.1200+174del | - | IntronicDeletion | - | 8/8 | 1 |
| 1-164792754-G-A | c.1200+1891G>A | - | IntronicSNV | - | 8/8 | 1 |
| 1-164794253-T-A | c.1200+3390T>A | - | IntronicSNV | - | 8/8 | 1 |
| 1-164794253-T-G | c.1200+3390T>G | - | IntronicSNV | - | 8/8 | 1 |
| 1-164796135-C-T | c.1200+5272C>T | - | IntronicSNV | - | 8/8 | 1 |
| 1-164796519-C-G | c.1200+5656C>G | - | IntronicSNV | - | 8/8 | 1 |
| 1-164807285-G-A | c.1201-8536G>A | - | IntronicSNV | - | 8/8 | 1 |
| 1-164815467-C-A | c.1201-354C>A | - | IntronicSNV | - | 8/8 | 1 |
| 1-164815467-C-G | c.1201-354C>G | - | IntronicSNV | - | 8/8 | 1 |
| 1-164815467-C-T | c.1201-354C>T | - | IntronicSNV | - | 8/8 | 1 |
| 1-164815821-G-C | c.1201G>C | p.A401P | Missense | 9/9 | - | 1 |
| 1-164815824-A-C | c.1204A>C | p.N402H | Missense | 9/9 | - | 2 |
| 1-164815824-A-G | c.1204A>G | p.N402D | Missense | 9/9 | - | 3 |
| 1-164815826-T-C | c.1206T>C | p.N402= | Synonymous | 9/9 | - | 2 |
| 1-164815827-G-A | c.1207G>A | p.G403R | Missense | 9/9 | - | 3 |
| 1-164815827-G-C | c.1207G>C | p.G403R | Missense | 9/9 | - | 2 |
| 1-164815830-G-T | c.1210G>T | p.G404C | Missense | 9/9 | - | 3 |
| 1-164815831-G-A | c.1211G>A | p.G404D | Missense | 9/9 | - | 2 |
| 1-164815832-T-G | c.1212T>G | p.G404= | Synonymous | 9/9 | - | 2 |
| 1-164815836-C-T | c.1216C>T | p.Q406* | Nonsense | 9/9 | - | 1 |
| 1-164815839-G-A | c.1219G>A | p.D407N | Missense | 9/9 | - | 1 |
| 1-164815841-T-C | c.1221T>C | p.D407= | Synonymous | 9/9 | - | 3 |
| 1-164815842-G-T | c.1222G>T | p.A408S | Missense | 9/9 | - | 1 |
| 1-164815843-C-A | c.1223C>A | p.A408D | Missense | 9/9 | - | 2 |
| 1-164815844-T-A | c.1224T>A | p.A408= | Synonymous | 9/9 | - | 1 |
| 1-164815844-T-C | c.1224T>C | p.A408= | Synonymous | 9/9 | - | 2 |
| 1-164815844-T-G | c.1224T>G | p.A408= | Synonymous | 9/9 | - | 1 |
| 1-164815845-A-C | c.1225A>C | p.T409P | Missense | 9/9 | - | 2 |
| 1-164815845-A-T | c.1225A>T | p.T409S | Missense | 9/9 | - | 1 |
| 1-164815851-C-T | c.1231C>T | p.P411S | Missense | 9/9 | - | 3 |
| 1-164815852-C-A | c.1232C>A | p.P411H | Missense | 9/9 | - | 1 |
| 1-164815852-C-T | c.1232C>T | p.P411L | Missense | 9/9 | - | 2 |
| 1-164815853-T-A | c.1233T>A | p.P411= | Synonymous | 9/9 | - | 1 |
| 1-164815853-T-C | c.1233T>C | p.P411= | Synonymous | 9/9 | - | 3 |
| 1-164815853-T-G | c.1233T>G | p.P411= | Synonymous | 9/9 | - | 1 |
| 1-164815855-C-T | c.1235C>T | p.S412L | Missense | 9/9 | - | 1 |
| 1-164815856-A-T | c.1236A>T | p.S412= | Synonymous | 9/9 | - | 2 |
| 1-164815859-A-C | c.1239A>C | p.S413= | Synonymous | 9/9 | - | 1 |
| 1-164815859-A-G | c.1239A>G | p.S413= | Synonymous | 9/9 | - | 1 |
| 1-164815859-A-T | c.1239A>T | p.S413= | Synonymous | 9/9 | - | 1 |
| 1-164815860-G-T | c.1240G>T | p.V414L | Missense | 9/9 | - | 3 |
| 1-164815868-C-A | c.1248C>A | p.S416= | Synonymous | 9/9 | - | 1 |
| 1-164815868-C-G | c.1248C>G | p.S416= | Synonymous | 9/9 | - | 1 |
| 1-164815868-C-T | c.1248C>T | p.S416= | Synonymous | 9/9 | - | 1 |
| 1-164815869-C-G | c.1249C>G | p.P417A | Missense | 9/9 | - | 1 |
| 1-164815869-C-T | c.1249C>T | p.P417S | Missense | 9/9 | - | 1 |
| 1-164815870-C-T | c.1250C>T | p.P417L | Missense | 9/9 | - | 1 |
| 1-164815872-A-G | c.1252A>G | p.T418A | Missense | 9/9 | - | 3 |
| 1-164815874-A-C | c.1254A>C | p.T418= | Synonymous | 9/9 | - | 1 |
| 1-164815874-A-G | c.1254A>G | p.T418= | Synonymous | 9/9 | - | 3 |
| 1-164815874-A-T | c.1254A>T | p.T418= | Synonymous | 9/9 | - | 1 |
| 1-164815875-G-A | c.1255G>A | p.E419K | Missense | 9/9 | - | 1 |
| 1-164815880-C-T | c.1260C>T | p.G420= | Synonymous | 9/9 | - | 2 |
| 1-164815884-G-T | c.1264G>T | p.G422C | Missense | 9/9 | - | 2 |
| 1-164815885-G-A | c.1265G>A | p.G422D | Missense | 9/9 | - | 1 |
| 1-164815888-G-A | c.1268G>A | p.S423N | Missense | 9/9 | - | 1 |
| 1-164815893-C-A | c.1273C>A | p.H425N | Missense | 9/9 | - | 8 |
| 1-164815893-C-G | c.1273C>G | p.H425D | Missense | 9/9 | - | 4 |
| 1-164815896-T-A | c.1276T>A | p.S426T | Missense | 9/9 | - | 2 |
| 1-164815899-G-A | c.1279G>A | p.D427N | Missense | 9/9 | - | 4 |
| 1-164815900-A-C | c.1280A>C | p.D427A | Missense | 9/9 | - | 1 |
| 1-164815907-C-A | c.1287C>A | p.S429= | Synonymous | 9/9 | - | 1 |
| 1-164815937-T-A | c.*24T>A | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164815937-T-C | c.*24T>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164816108-T-C | c.*195T>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164816345-C-G | c.*432C>G | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164816345-C-T | c.*432C>T | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164816415-C-T | c.*502C>T | - | 3-UTRSNV | 9/9 | - | 2 |
| 1-164816726-C-T | c.*813C>T | - | 3-UTRSNV | 9/9 | - | 3 |
| 1-164816956-G-A | c.*1043G>A | - | 3-UTRSNV | 9/9 | - | 2 |
| 1-164816956-G-C | c.*1043G>C | - | 3-UTRSNV | 9/9 | - | 2 |
| 1-164817996-G-T | c.*2083G>T | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164818494-C-T | c.*2581C>T | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164818795-A-C | c.*2882A>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164818797-G-A | c.*2884G>A | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164818907-C-T | c.*2994C>T | - | 3-UTRSNV | 9/9 | - | 7 |
| 1-164818938-G-A | c.*3025G>A | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164818938-G-C | c.*3025G>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164819744-T-C | c.*3831T>C | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164819914-A-G | c.*4001A>G | - | 3-UTRSNV | 9/9 | - | 1 |
| 1-164820162-A-G | c.*4249A>G | - | 3-UTRSNV | 9/9 | - | 3 |