| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 4-70896273-G-A | c.-13-172G>A | - | IntronicSNV | - | 1/5 | 1 |
| 4-70896355-A-G | c.-13-90A>G | - | IntronicSNV | - | 1/5 | 3 |
| 4-70896460-G-A | c.3G>A | p.M1? | Missense | 2/6 | - | 2 |
| 4-70896464-T-C | c.7T>C | p.F3L | Missense | 2/6 | - | 1 |
| 4-70896463-G-GT | c.12dup | p.V5Cfs*16 | Frameshift | 2/6 | - | 1 |
| 4-70896469-T-C | c.12T>C | p.F4= | Synonymous | 2/6 | - | 1 |
| 4-70896476-G-T | c.19G>T | p.A7S | Missense | 2/6 | - | 2 |
| 4-70896484-C-T | c.27C>T | p.I9= | Synonymous | 2/6 | - | 1 |
| 4-70896491-C-T | c.34C>T | p.L12F | Missense | 2/6 | - | 2 |
| 4-70896492-T-G | c.35T>G | p.L12R | Missense | 2/6 | - | 1 |
| 4-70896494-A-C | c.37A>C | p.M13L | Missense | 2/6 | - | 1 |
| 4-70896494-A-G | c.37A>G | p.M13V | Missense | 2/6 | - | 2 |
| 4-70896494-A-T | c.37A>T | p.M13L | Missense | 2/6 | - | 5 |
| 4-70896495-T-C | c.38T>C | p.M13T | Missense | 2/6 | - | 1 |
| 4-70896496-G-A | c.39G>A | p.M13I | Missense | 2/6 | - | 3 |
| 4-70896497-C-A | c.40C>A | p.L14I | Missense | 2/6 | - | 3 |
| 4-70896501-C-T | c.44C>T | p.S15F | Missense | 2/6 | - | 3 |
| 4-70896505-G-A | c.48G>A | p.M16I | Missense | 2/6 | - | 2 |
| 4-70896505-G-C | c.48G>C | p.M16I | Missense | 2/6 | - | 2 |
| 4-70896505-G-T | c.48G>T | p.M16I | Missense | 2/6 | - | 3 |
| 4-70896507-C-A | c.50C>A | p.T17N | Missense | 2/6 | - | 1 |
| 4-70896509-G-A | c.51+1G>A | - | IntronicSNV | - | 2/5 | 1 |
| 4-70896510-T-A | c.51+2T>A | - | IntronicSNV | - | 2/5 | 1 |
| 4-70896579-G-A | c.51+71G>A | - | IntronicSNV | - | 2/5 | 1 |
| 4-70897507-T-C | c.52-189T>C | - | IntronicSNV | - | 2/5 | 1 |
| 4-70897696-G-A | c.52G>A | p.G18R | Missense | 3/6 | - | 4 |
| 4-70897697-G-T | c.53G>T | p.G18V | Missense | 3/6 | - | 3 |
| 4-70897698-A-G | c.54A>G | p.G18= | Synonymous | 3/6 | - | 1 |
| 4-70897699-G-A | c.55G>A | p.A19T | Missense | 3/6 | - | 1 |
| 4-70897699-G-C | c.55G>C | p.A19P | Missense | 3/6 | - | 1 |
| 4-70897699-GC-AA | c.55_56delinsAA | p.A19N | Missense | 3/6 | - | 1 |
| 4-70897699-GC-CA | c.55_56delinsCA | p.A19H | Missense | 3/6 | - | 1 |
| 4-70897699-GC-CT | c.55_56delinsCT | p.A19L | Missense | 3/6 | - | 1 |
| 4-70897699-GCT-AAG | c.55_57delinsAAG | p.A19K | Missense | 3/6 | - | 1 |
| 4-70897699-GCT-ATG | c.55_57delinsATG | p.A19M | Missense | 3/6 | - | 1 |
| 4-70897699-GCT-CAA | c.55_57delinsCAA | p.A19Q | Missense | 3/6 | - | 1 |
| 4-70897699-GC-TG | c.55_56delinsTG | p.A19C | Missense | 3/6 | - | 1 |
| 4-70897699-GC-TT | c.55_56delinsTT | p.A19F | Missense | 3/6 | - | 1 |
| 4-70897699-GCT-TGG | c.55_57delinsTGG | p.A19W | Missense | 3/6 | - | 1 |
| 4-70897699-G-T | c.55G>T | p.A19S | Missense | 3/6 | - | 1 |
| 4-70897700-C-A | c.56C>A | p.A19D | Missense | 3/6 | - | 1 |
| 4-70897700-C-G | c.56C>G | p.A19G | Missense | 3/6 | - | 5 |
| 4-70897700-C-T | c.56C>T | p.A19V | Missense | 3/6 | - | 1 |
| 4-70897700-CT-AG | c.56_57inv | p.A19E | Missense | 3/6 | - | 1 |
| 4-70897701-T-A | c.57T>A | p.A19= | Synonymous | 3/6 | - | 2 |
| 4-70897701-T-C | c.57T>C | p.A19= | Synonymous | 3/6 | - | 2 |
| 4-70897701-T-G | c.57T>G | p.A19= | Synonymous | 3/6 | - | 2 |
| 4-70897706-C-T | c.62C>T | p.S21L | Missense | 3/6 | - | 5 |
| 4-70897711-GCA-CAT | c.67_69delinsCAT | p.A23H | Missense | 3/6 | - | 1 |
| 4-70897711-GCA-TGT | c.67_69delinsTGT | p.A23C | Missense | 3/6 | - | 1 |
| 4-70897712-C-G | c.68C>G | p.A23G | Missense | 3/6 | - | 1 |
| 4-70897712-C-T | c.68C>T | p.A23V | Missense | 3/6 | - | 1 |
| 4-70897729-C-T | c.72+13C>T | - | IntronicSNV | - | 3/5 | 1 |
| 4-70897796-G-C | c.74G>C | p.R25T | Missense | 4/6 | - | 1 |
| 4-70897806-G-A | c.84G>A | p.G28= | Synonymous | 4/6 | - | 1 |
| 4-70897808-A-G | c.86A>G | p.Y29C | Missense | 4/6 | - | 1 |
| 4-70897809-T-A | c.87T>A | p.Y29* | Nonsense | 4/6 | - | 2 |
| 4-70897810-A-G | c.88A>G | p.K30E | Missense | 4/6 | - | 1 |
| 4-70897811-A-G | c.89A>G | p.K30R | Missense | 4/6 | - | 1 |
| 4-70897813-AG-CA | c.91_92delinsCA | p.R31Q | Missense | 4/6 | - | 1 |
| 4-70897814-AG-A | c.92del | p.R31Kfs*30 | Frameshift | 4/6 | - | 1 |
| 4-70897814-G-A | c.92G>A | p.R31K | Missense | 4/6 | - | 6 |
| 4-70897822-C-A | c.100C>A | p.H34N | Missense | 4/6 | - | 1 |
| 4-70898884-G-A | c.103G>A | p.E35K | Missense | 5/6 | - | 2 |
| 4-70898887-AA-GC | c.106_107delinsGC | p.K36A | Missense | 5/6 | - | 1 |
| 4-70898889-G-A | c.108G>A | p.K36= | Synonymous | 5/6 | - | 4 |
| 4-70898893-C-A | c.112C>A | p.H38N | Missense | 5/6 | - | 1 |
| 4-70898893-C-G | c.112C>G | p.H38D | Missense | 5/6 | - | 1 |
| 4-70898902-C-T | c.121C>T | p.R41* | Nonsense | 5/6 | - | 2 |
| 4-70898903-G-A | c.122G>A | p.R41Q | Missense | 5/6 | - | 5 |
| 4-70898905-G-C | c.124G>C | p.G42R | Missense | 5/6 | - | 2 |
| 4-70898906-G-A | c.125G>A | p.G42D | Missense | 5/6 | - | 1 |
| 4-70898907-C-A | c.126C>A | p.G42= | Synonymous | 5/6 | - | 3 |
| 4-70898907-C-G | c.126C>G | p.G42= | Synonymous | 5/6 | - | 3 |
| 4-70898907-C-T | c.126C>T | p.G42= | Synonymous | 5/6 | - | 13 |
| 4-70898910-T-C | c.129T>C | p.Y43= | Synonymous | 5/6 | - | 1 |
| 4-70898911-A-T | c.130A>T | p.R44* | Nonsense | 5/6 | - | 1 |
| 4-70898915-C-T | c.134C>T | p.S45L | Missense | 5/6 | - | 4 |
| 4-70898922-T-A | c.141T>A | p.Y47* | Nonsense | 5/6 | - | 6 |
| 4-70898923-C-T | c.142C>T | p.L48= | Synonymous | 5/6 | - | 1 |
| 4-70898925-G-A | c.144G>A | p.L48= | Synonymous | 5/6 | - | 1 |
| 4-70898925-G-C | c.144G>C | p.L48= | Synonymous | 5/6 | - | 1 |
| 4-70898925-G-T | c.144G>T | p.L48= | Synonymous | 5/6 | - | 1 |
| 4-70898928-T-A | c.147T>A | p.Y49* | Nonsense | 5/6 | - | 1 |
| 4-70898928-T-G | c.147T>G | p.Y49* | Nonsense | 5/6 | - | 1 |
| 4-70898953-C-T | c.*16C>T | - | 3-UTRSNV | 5/6 | - | 13 |
| 4-70899036-T-TA | c.*33+66_*33+67insA | - | IntronicInsertion | - | 5/5 | 1 |
| 4-70899036-T-TAA | c.*33+66_*33+67insAA | - | IntronicInsertion | - | 5/5 | 1 |
| 4-70899037-T-A | c.*33+67T>A | - | IntronicSNV | - | 5/5 | 5 |
| 4-70899204-G-A | c.*33+234G>A | - | IntronicSNV | - | 5/5 | 2 |