| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 4-110481508-C-T | c.15C>T | p.G5= | Synonymous | 1/8 | - | 1 |
| 4-110481509-C-T | c.16C>T | p.L6F | Missense | 1/8 | - | 1 |
| 4-110481515-C-T | c.22C>T | p.P8S | Missense | 1/8 | - | 1 |
| 4-110481525-C-T | c.32C>T | p.T11M | Missense | 1/8 | - | 1 |
| 4-110481530-C-T | c.37C>T | p.L13= | Synonymous | 1/8 | - | 1 |
| 4-110481532-G-A | c.39G>A | p.L13= | Synonymous | 1/8 | - | 1 |
| 4-110481532-G-C | c.39G>C | p.L13= | Synonymous | 1/8 | - | 1 |
| 4-110481532-G-T | c.39G>T | p.L13= | Synonymous | 1/8 | - | 1 |
| 4-110481543-C-T | c.50C>T | p.P17L | Missense | 1/8 | - | 1 |
| 4-110481550-C-T | c.57C>T | p.T19= | Synonymous | 1/8 | - | 1 |
| 4-110481579-C-G | c.86C>G | p.P29R | Missense | 1/8 | - | 1 |
| 4-110481580-G-A | c.87G>A | p.P29= | Synonymous | 1/8 | - | 1 |
| 4-110481580-G-C | c.87G>C | p.P29= | Synonymous | 1/8 | - | 1 |
| 4-110481580-G-T | c.87G>T | p.P29= | Synonymous | 1/8 | - | 1 |
| 4-110481584-C-T | c.91C>T | p.P31S | Missense | 1/8 | - | 1 |
| 4-110481585-C-A | c.92C>A | p.P31Q | Missense | 1/8 | - | 1 |
| 4-110481585-C-T | c.92C>T | p.P31L | Missense | 1/8 | - | 1 |
| 4-110481590-C-T | c.97C>T | p.Q33* | Nonsense | 1/8 | - | 2 |
| 4-110481592-G-C | c.99G>C | p.Q33H | Missense | 1/8 | - | 1 |
| 4-110481592-G-T | c.99G>T | p.Q33H | Missense | 1/8 | - | 1 |
| 4-110481610-G-A | c.99+18G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110482229-T-TGGA | c.99+642_99+644dup | - | IntronicInsertion | - | 1/7 | 1 |
| 4-110482523-CT-C | c.99+939del | - | IntronicDeletion | - | 1/7 | 1 |
| 4-110484037-GA-G | c.99+2454del | - | IntronicDeletion | - | 1/7 | 1 |
| 4-110485625-C-T | c.99+4033C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110486170-A-G | c.99+4578A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110486874-C-T | c.99+5282C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110488311-T-A | c.99+6719T>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110488431-G-A | c.99+6839G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110488431-G-C | c.99+6839G>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110491344-C-T | c.99+9752C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110491665-A-C | c.99+10073A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110493507-T-C | c.99+11915T>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110496506-A-G | c.99+14914A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110497406-T-A | c.99+15814T>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110498891-C-T | c.99+17299C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110499958-A-C | c.99+18366A>C | - | IntronicSNV | - | 1/7 | 2 |
| 4-110499958-A-G | c.99+18366A>G | - | IntronicSNV | - | 1/7 | 2 |
| 4-110503306-G-A | c.99+21714G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110503720-A-C | c.99+22128A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110503721-A-C | c.99+22129A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110503723-A-C | c.99+22131A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110503724-A-C | c.99+22132A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110506056-T-C | c.99+24464T>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110506094-G-A | c.99+24502G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110508530-G-A | c.99+26938G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110512312-C-T | c.99+30720C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110516542-G-A | c.99+34950G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110516805-A-G | c.99+35213A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110518112-A-G | c.99+36520A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110520833-A-G | c.99+39241A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110520833-A-T | c.99+39241A>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110520833-TA-T | c.99+39241del | - | IntronicDeletion | - | 1/7 | 1 |
| 4-110529829-GT-G | c.99+48247del | - | IntronicDeletion | - | 1/7 | 1 |
| 4-110530221-ATC-A | c.99+48645_99+48646del | - | IntronicDeletion | - | 1/7 | 1 |
| 4-110537567-A-G | c.100-42600A>G | - | IntronicSNV | - | 1/7 | 6 |
| 4-110553554-C-T | c.100-26613C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110558395-A-C | c.100-21772A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110562243-A-C | c.100-17924A>C | - | IntronicSNV | - | 1/7 | 1 |
| 4-110562243-A-G | c.100-17924A>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110563638-T-C | c.100-16529T>C | - | IntronicSNV | - | 1/7 | 2 |
| 4-110564431-T-TC | c.100-15734dup | - | IntronicInsertion | - | 1/7 | 1 |
| 4-110568222-G-A | c.100-11945G>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110568711-C-T | c.100-11456C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110569547-T-A | c.100-10620T>A | - | IntronicSNV | - | 1/7 | 2 |
| 4-110569547-T-C | c.100-10620T>C | - | IntronicSNV | - | 1/7 | 2 |
| 4-110569555-G-A | c.100-10612G>A | - | IntronicSNV | - | 1/7 | 2 |
| 4-110569555-G-T | c.100-10612G>T | - | IntronicSNV | - | 1/7 | 2 |
| 4-110569592-A-T | c.100-10575A>T | - | IntronicSNV | - | 1/7 | 3 |
| 4-110569620-C-T | c.100-10547C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110570095-G-T | c.100-10072G>T | - | IntronicSNV | - | 1/7 | 2 |
| 4-110571210-C-A | c.100-8957C>A | - | IntronicSNV | - | 1/7 | 1 |
| 4-110572343-C-G | c.100-7824C>G | - | IntronicSNV | - | 1/7 | 1 |
| 4-110572343-C-T | c.100-7824C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110574049-C-T | c.100-6118C>T | - | IntronicSNV | - | 1/7 | 1 |
| 4-110578746-T-A | c.100-1421T>A | - | IntronicSNV | - | 1/7 | 6 |
| 4-110580084-G-C | c.100-83G>C | - | IntronicSNV | - | 1/7 | 3 |
| 4-110580084-G-T | c.100-83G>T | - | IntronicSNV | - | 1/7 | 3 |
| 4-110580167-GTT-ATG | c.100_102delinsATG | p.V34M | Missense | 2/8 | - | 1 |
| 4-110580173-C-T | c.106C>T | p.R36C | Missense | 2/8 | - | 1 |
| 4-110580177-T-C | c.110T>C | p.V37A | Missense | 2/8 | - | 1 |
| 4-110580179-AA-GC | c.112_113delinsGC | p.K38A | Missense | 2/8 | - | 1 |
| 4-110580181-G-C | c.114G>C | p.K38N | Missense | 2/8 | - | 1 |
| 4-110580181-G-T | c.114G>T | p.K38N | Missense | 2/8 | - | 1 |
| 4-110580185-TG-GC | c.118_119delinsGC | p.C40A | Missense | 2/8 | - | 1 |
| 4-110580187-T-C | c.120T>C | p.C40= | Synonymous | 2/8 | - | 1 |
| 4-110580188-G-C | c.121G>C | p.G41R | Missense | 2/8 | - | 1 |
| 4-110580189-G-T | c.122G>T | p.G41V | Missense | 2/8 | - | 1 |
| 4-110580194-G-T | c.127G>T | p.V43L | Missense | 2/8 | - | 1 |
| 4-110580199-A-C | c.132A>C | p.K44N | Missense | 2/8 | - | 1 |
| 4-110580209-T-A | c.142T>A | p.S48T | Missense | 2/8 | - | 1 |
| 4-110580221-AG-TT | c.154_155delinsTT | p.S52F | Missense | 2/8 | - | 1 |
| 4-110580222-G-C | c.155G>C | p.S52T | Missense | 2/8 | - | 1 |
| 4-110580225-CC-TG | c.158_159delinsTG | p.T53M | Missense | 2/8 | - | 1 |
| 4-110580226-C-A | c.159C>A | p.T53= | Synonymous | 2/8 | - | 1 |
| 4-110580226-C-G | c.159C>G | p.T53= | Synonymous | 2/8 | - | 1 |
| 4-110580226-C-T | c.159C>T | p.T53= | Synonymous | 2/8 | - | 1 |
| 4-110580227-G-A | c.160G>A | p.V54M | Missense | 2/8 | - | 2 |
| 4-110580237-C-T | c.170C>T | p.P57L | Missense | 2/8 | - | 3 |
| 4-110580239-G-A | c.172G>A | p.D58N | Missense | 2/8 | - | 1 |
| 4-110580365-T-A | c.175+123T>A | - | IntronicSNV | - | 2/7 | 1 |
| 4-110580436-G-GC | c.175+194_175+195insC | - | IntronicInsertion | - | 2/7 | 2 |
| 4-110580436-G-GCACTCAGC | c.175+194_175+195insCACTCAGC | - | IntronicInsertion | - | 2/7 | 2 |
| 4-110581363-T-A | c.188T>A | p.I63N | Missense | 3/8 | - | 31 |
| 4-110581364-T-A | c.189T>A | p.I63= | Synonymous | 3/8 | - | 1 |
| 4-110581364-T-C | c.189T>C | p.I63= | Synonymous | 3/8 | - | 1 |
| 4-110581370-A-AC | c.196dup | p.H66Pfs*13 | Frameshift | 3/8 | - | 1 |
| 4-110581386-G-A | c.211G>A | p.V71I | Missense | 3/8 | - | 2 |
| 4-110581397-C-T | c.222C>T | p.T74= | Synonymous | 3/8 | - | 3 |
| 4-110581398-T-C | c.223T>C | p.L75= | Synonymous | 3/8 | - | 1 |
| 4-110581400-G-A | c.225G>A | p.L75= | Synonymous | 3/8 | - | 1 |
| 4-110581407-AG-CA | c.232_233delinsCA | p.R78Q | Missense | 3/8 | - | 1 |
| 4-110581408-G-A | c.233G>A | p.R78K | Missense | 3/8 | - | 1 |
| 4-110581413-G-T | c.238G>T | p.E80* | Nonsense | 3/8 | - | 1 |
| 4-110581416-C-T | c.241C>T | p.R81C | Missense | 3/8 | - | 1 |
| 4-110581417-G-T | c.242G>T | p.R81L | Missense | 3/8 | - | 1 |
| 4-110581427-C-T | c.252C>T | p.F84= | Synonymous | 3/8 | - | 6 |
| 4-110581428-G-A | c.253G>A | p.V85I | Missense | 3/8 | - | 1 |
| 4-110581432-T-C | c.257T>C | p.V86A | Missense | 3/8 | - | 1 |
| 4-110581440-A-G | c.265A>G | p.M89V | Missense | 3/8 | - | 1 |
| 4-110581443-TT-CC | c.268_269delinsCC | p.L90P | Missense | 3/8 | - | 1 |
| 4-110581442-GT-G | c.269del | p.L90Cfs*30 | Frameshift | 3/8 | - | 1 |
| 4-110581447-CA-GG | c.272_273delinsGG | p.S91W | Missense | 3/8 | - | 1 |
| 4-110581447-C-G | c.272C>G | p.S91* | Nonsense | 3/8 | - | 1 |
| 4-110581447-C-T | c.272C>T | p.S91L | Missense | 3/8 | - | 1 |
| 4-110581458-TCA-AAC | c.283_285delinsAAC | p.S95N | Missense | 3/8 | - | 1 |
| 4-110581464-C-A | c.289C>A | p.L97I | Missense | 3/8 | - | 1 |
| 4-110581470-G-A | c.295G>A | p.D99N | Missense | 3/8 | - | 1 |
| 4-110581473-C-G | c.298C>G | p.L100V | Missense | 3/8 | - | 2 |
| 4-110581499-A-AC | c.324_325insC | p.T109Hfs*25 | Frameshift | 3/8 | - | 1 |
| 4-110581505-A-C | c.330A>C | p.A110= | Synonymous | 3/8 | - | 1 |
| 4-110581505-A-G | c.330A>G | p.A110= | Synonymous | 3/8 | - | 1 |
| 4-110581505-A-T | c.330A>T | p.A110= | Synonymous | 3/8 | - | 1 |
| 4-110581506-G-T | c.331G>T | p.A111S | Missense | 3/8 | - | 1 |
| 4-110581510-T-G | c.335T>G | p.I112S | Missense | 3/8 | - | 1 |
| 4-110581512-T-A | c.337T>A | p.F113I | Missense | 3/8 | - | 1 |
| 4-110581518-G-T | c.343G>T | p.A115S | Missense | 3/8 | - | 1 |
| 4-110581519-C-CA | c.345dup | p.D116Rfs*18 | SpliceDonorInsertion | 3/8 | - | 1 |
| 4-110581520-A-AC | c.345_346insC | p.D116Rfs*18 | SpliceDonorInsertion | 3/8 | - | 1 |
| 4-110581520-A-AT | c.345_346insT | p.D116* | SpliceDonorInsertion | 3/8 | - | 1 |
| 4-110581520-A-G | c.345A>G | p.A115= | Synonymous | 3/8 | - | 1 |
| 4-110581781-C-T | c.346+260C>T | - | IntronicSNV | - | 3/7 | 1 |
| 4-110582100-T-A | c.346+579T>A | - | IntronicSNV | - | 3/7 | 1 |
| 4-110582100-T-C | c.346+579T>C | - | IntronicSNV | - | 3/7 | 1 |
| 4-110585447-AT-A | c.348del | p.D116Efs*4 | Frameshift | 4/8 | - | 1 |
| 4-110585449-G-A | c.350G>A | p.G117D | Missense | 4/8 | - | 1 |
| 4-110585461-C-A | c.362C>A | p.S121* | Nonsense | 4/8 | - | 1 |
| 4-110585461-C-G | c.362C>G | p.S121* | Nonsense | 4/8 | - | 1 |
| 4-110585462-A-C | c.363A>C | p.S121= | Synonymous | 4/8 | - | 1 |
| 4-110585462-A-G | c.363A>G | p.S121= | Synonymous | 4/8 | - | 1 |
| 4-110585462-A-T | c.363A>T | p.S121= | Synonymous | 4/8 | - | 1 |
| 4-110585464-C-T | c.365C>T | p.A122V | Missense | 4/8 | - | 1 |
| 4-110585478-G-A | c.379G>A | p.D127N | Missense | 4/8 | - | 6 |
| 4-110585485-T-A | c.386T>A | p.L129* | Nonsense | 4/8 | - | 1 |
| 4-110585490-A-C | c.391A>C | p.M131L | Missense | 4/8 | - | 1 |
| 4-110585490-A-T | c.391A>T | p.M131L | Missense | 4/8 | - | 1 |
| 4-110585492-G-A | c.393G>A | p.M131I | Missense | 4/8 | - | 1 |
| 4-110585493-A-G | c.394A>G | p.N132D | Missense | 4/8 | - | 3 |
| 4-110585496-G-A | c.397G>A | p.D133N | Missense | 4/8 | - | 1 |
| 4-110585510-C-A | c.411C>A | p.V137= | Synonymous | 4/8 | - | 1 |
| 4-110585510-C-G | c.411C>G | p.V137= | Synonymous | 4/8 | - | 1 |
| 4-110585510-C-T | c.411C>T | p.V137= | Synonymous | 4/8 | - | 1 |
| 4-110585510-TC-T | c.411del | p.I138Lfs*4 | Frameshift | 4/8 | - | 1 |
| 4-110585521-T-C | c.422T>C | p.I141T | Missense | 4/8 | - | 1 |
| 4-110585526-T-C | c.427T>C | p.Y143H | Missense | 4/8 | - | 1 |
| 4-110585527-A-G | c.428A>G | p.Y143C | Missense | 4/8 | - | 1 |
| 4-110585546-G-C | c.447G>C | p.K149N | Missense | 4/8 | - | 1 |
| 4-110585577-A-T | c.451+27A>T | - | IntronicSNV | - | 4/7 | 1 |
| 4-110585577-TAC-T | c.451+27_451+28del | - | IntronicDeletion | - | 4/7 | 1 |
| 4-110585578-CT-C | c.451+45del | - | IntronicDeletion | - | 4/7 | 3 |
| 4-110585617-GTT-G | c.451+69_451+70del | - | IntronicDeletion | - | 4/7 | 1 |
| 4-110585645-G-A | c.451+95G>A | - | IntronicSNV | - | 4/7 | 3 |
| 4-110585645-G-T | c.451+95G>T | - | IntronicSNV | - | 4/7 | 2 |
| 4-110586809-T-C | c.451+1259T>C | - | IntronicSNV | - | 4/7 | 1 |
| 4-110590479-G-A | c.451+4929G>A | - | IntronicSNV | - | 4/7 | 27 |
| 4-110590479-G-T | c.451+4929G>T | - | IntronicSNV | - | 4/7 | 27 |
| 4-110590557-C-T | c.451+5007C>T | - | IntronicSNV | - | 4/7 | 1 |
| 4-110591830-T-C | c.451+6280T>C | - | IntronicSNV | - | 4/7 | 1 |
| 4-110593994-CT-C | c.451+8451del | - | IntronicDeletion | - | 4/7 | 1 |
| 4-110596917-C-G | c.452-6821C>G | - | IntronicSNV | - | 4/7 | 1 |
| 4-110602430-T-G | c.452-1308T>G | - | IntronicSNV | - | 4/7 | 3 |
| 4-110602636-G-A | c.452-1102G>A | - | IntronicSNV | - | 4/7 | 1 |
| 4-110602699-G-A | c.452-1039G>A | - | IntronicSNV | - | 4/7 | 1 |
| 4-110603743-C-A | c.457C>A | p.P153T | Missense | 5/8 | - | 1 |
| 4-110603743-C-G | c.457C>G | p.P153A | Missense | 5/8 | - | 1 |
| 4-110603743-C-T | c.457C>T | p.P153S | Missense | 5/8 | - | 1 |
| 4-110603744-C-T | c.458C>T | p.P153L | Missense | 5/8 | - | 3 |
| 4-110603744-C-CA | c.460dup | p.S154Kfs*2 | Frameshift | 5/8 | - | 1 |
| 4-110603750-A-AT | c.465dup | p.E156* | Nonsense | 5/8 | - | 1 |
| 4-110603751-T-G | c.465T>G | p.N155K | Missense | 5/8 | - | 1 |
| 4-110603762-GC-G | c.476del | p.A159Vfs*6 | Frameshift | 5/8 | - | 1 |
| 4-110603764-G-A | c.478G>A | p.E160K | Missense | 5/8 | - | 1 |
| 4-110603769-G-A | c.483G>A | p.M161I | Missense | 5/8 | - | 1 |
| 4-110603771-A-G | c.485A>G | p.E162G | Missense | 5/8 | - | 1 |
| 4-110603783-C-A | c.497C>A | p.S166Y | Missense | 5/8 | - | 1 |
| 4-110603784-T-A | c.498T>A | p.S166= | Synonymous | 5/8 | - | 4 |
| 4-110603784-T-C | c.498T>C | p.S166= | Synonymous | 5/8 | - | 22 |
| 4-110603784-T-G | c.498T>G | p.S166= | Synonymous | 5/8 | - | 4 |
| 4-110603788-GTT-ATG | c.502_504delinsATG | p.V168M | Missense | 5/8 | - | 1 |
| 4-110603795-G-A | c.509G>A | p.R170K | Missense | 5/8 | - | 4 |
| 4-110603795-G-T | c.509G>T | p.R170I | Missense | 5/8 | - | 1 |
| 4-110603796-A-G | c.510A>G | p.R170= | Synonymous | 5/8 | - | 1 |
| 4-110603810-T-A | c.524T>A | p.L175* | Nonsense | 5/8 | - | 1 |
| 4-110603814-T-A | c.528T>A | p.H176Q | Missense | 5/8 | - | 1 |
| 4-110603814-T-G | c.528T>G | p.H176Q | Missense | 5/8 | - | 1 |
| 4-110603819-A-G | c.533A>G | p.E178G | Missense | 5/8 | - | 1 |
| 4-110603821-G-A | c.535G>A | p.E179K | Missense | 5/8 | - | 2 |
| 4-110603827-C-A | c.541C>A | p.Q181K | Missense | 5/8 | - | 1 |
| 4-110603827-C-T | c.541C>T | p.Q181* | Nonsense | 5/8 | - | 1 |
| 4-110603834-A-C | c.548A>C | p.K183T | Missense | 5/8 | - | 2 |
| 4-110603835-G-A | c.549G>A | p.K183= | Synonymous | 5/8 | - | 3 |
| 4-110603847-T-C | c.561T>C | p.H187= | Synonymous | 5/8 | - | 1 |
| 4-110603856-G-C | c.570G>C | p.E190D | Missense | 5/8 | - | 1 |
| 4-110603856-G-T | c.570G>T | p.E190D | Missense | 5/8 | - | 1 |
| 4-110603861-T-C | c.575T>C | p.I192T | Missense | 5/8 | - | 1 |
| 4-110603861-T-G | c.575T>G | p.I192S | Missense | 5/8 | - | 2 |
| 4-110603866-C-A | c.580C>A | p.H194N | Missense | 5/8 | - | 1 |
| 4-110603868-C-T | c.582C>T | p.H194= | Synonymous | 5/8 | - | 1 |
| 4-110603869-C-T | c.583C>T | p.L195= | Synonymous | 5/8 | - | 2 |
| 4-110603871-G-A | c.585G>A | p.L195= | Synonymous | 5/8 | - | 1 |
| 4-110603871-G-C | c.585G>C | p.L195= | Synonymous | 5/8 | - | 1 |
| 4-110603871-G-T | c.585G>T | p.L195= | Synonymous | 5/8 | - | 1 |
| 4-110603882-T-C | c.596T>C | p.L199P | Missense | 5/8 | - | 1 |
| 4-110603891-T-C | c.605T>C | p.L202P | Missense | 5/8 | - | 2 |
| 4-110603892-T-A | c.606T>A | p.L202= | Synonymous | 5/8 | - | 1 |
| 4-110603892-T-C | c.606T>C | p.L202= | Synonymous | 5/8 | - | 1 |
| 4-110603892-T-G | c.606T>G | p.L202= | Synonymous | 5/8 | - | 1 |
| 4-110603896-C-A | c.610C>A | p.Q204K | Missense | 5/8 | - | 1 |
| 4-110603951-G-T | c.612+53G>T | - | IntronicSNV | - | 5/7 | 1 |
| 4-110604574-GT-G | c.612+684del | - | IntronicDeletion | - | 5/7 | 1 |
| 4-110604720-C-T | c.612+822C>T | - | IntronicSNV | - | 5/7 | 1 |
| 4-110605487-A-G | c.613-112A>G | - | IntronicSNV | - | 5/7 | 1 |
| 4-110605606-C-T | c.620C>T | p.A207V | Missense | 6/8 | - | 1 |
| 4-110605609-G-A | c.623G>A | p.G208E | Missense | 6/8 | - | 3 |
| 4-110605609-G-T | c.623G>T | p.G208V | Missense | 6/8 | - | 1 |
| 4-110605620-C-T | c.634C>T | p.H212Y | Missense | 6/8 | - | 1 |
| 4-110605624-C-T | c.638C>T | p.S213L | Missense | 6/8 | - | 1 |
| 4-110605626-G-C | c.640G>C | p.E214Q | Missense | 6/8 | - | 1 |
| 4-110605641-G-A | c.655G>A | p.G219R | Missense | 6/8 | - | 2 |
| 4-110605647-C-A | c.661C>A | p.L221M | Missense | 6/8 | - | 1 |
| 4-110605655-T-A | c.669T>A | p.A223= | Synonymous | 6/8 | - | 1 |
| 4-110605655-T-C | c.669T>C | p.A223= | Synonymous | 6/8 | - | 1 |
| 4-110605655-T-G | c.669T>G | p.A223= | Synonymous | 6/8 | - | 1 |
| 4-110605663-C-T | c.677C>T | p.A226V | Missense | 6/8 | - | 1 |
| 4-110605665-C-T | c.679C>T | p.L227= | Synonymous | 6/8 | - | 1 |
| 4-110605667-G-A | c.681G>A | p.L227= | Synonymous | 6/8 | - | 1 |
| 4-110605667-G-C | c.681G>C | p.L227= | Synonymous | 6/8 | - | 1 |
| 4-110605667-G-T | c.681G>T | p.L227= | Synonymous | 6/8 | - | 1 |
| 4-110605678-AG-A | c.695del | p.G232Vfs*37 | Frameshift | 6/8 | - | 2 |
| 4-110605683-G-A | c.697G>A | p.G233R | Missense | 6/8 | - | 1 |
| 4-110605692-G-A | c.706G>A | p.A236T | Missense | 6/8 | - | 1 |
| 4-110605693-CCTGGCT-C | c.709_714del | p.W237_L238del | InFrameDeletion | 6/8 | - | 1 |
| 4-110605697-G-A | c.711G>A | p.W237* | Nonsense | 6/8 | - | 1 |
| 4-110605701-A-T | c.715A>T | p.T239S | Missense | 6/8 | - | 1 |
| 4-110605702-C-A | c.716C>A | p.T239K | Missense | 6/8 | - | 2 |
| 4-110605702-C-T | c.716C>T | p.T239M | Missense | 6/8 | - | 2 |
| 4-110605705-G-C | c.719G>C | p.W240S | Missense | 6/8 | - | 2 |
| 4-110605709-G-A | c.723G>A | p.W241* | Nonsense | 6/8 | - | 4 |
| 4-110605719-T-A | c.733T>A | p.W245R | Missense | 6/8 | - | 1 |
| 4-110605719-T-C | c.733T>C | p.W245R | Missense | 6/8 | - | 1 |
| 4-110605719-T-G | c.733T>G | p.W245G | Missense | 6/8 | - | 1 |
| 4-110605718-CTGGGA-C | c.734_738del | p.W245Yfs*34 | Frameshift | 6/8 | - | 1 |
| 4-110605722-G-A | c.736G>A | p.D246N | Missense | 6/8 | - | 1 |
| 4-110605722-G-T | c.736G>T | p.D246Y | Missense | 6/8 | - | 1 |
| 4-110605727-C-G | c.741C>G | p.I247M | Missense | 6/8 | - | 2 |
| 4-110605731-G-C | c.745G>C | p.E249Q | Missense | 6/8 | - | 1 |
| 4-110605734-C-T | c.748C>T | p.P250S | Missense | 6/8 | - | 3 |
| 4-110605735-C-T | c.749C>T | p.P250L | Missense | 6/8 | - | 1 |
| 4-110605738-TT-AG | c.752_753delinsAG | p.V251E | Missense | 6/8 | - | 1 |
| 4-110605744-A-T | c.758A>T | p.Y253F | Missense | 6/8 | - | 27 |
| 4-110605745-C-T | c.759C>T | p.Y253= | Synonymous | 6/8 | - | 1 |
| 4-110605749-A-G | c.763A>G | p.I255V | Missense | 6/8 | - | 4 |
| 4-110605750-T-A | c.764T>A | p.I255N | Missense | 6/8 | - | 1 |
| 4-110605751-C-G | c.765C>G | p.I255M | Missense | 6/8 | - | 1 |
| 4-110605767-A-G | c.781A>G | p.M261V | Missense | 6/8 | - | 2 |
| 4-110605775-T-C | c.789T>C | p.F263= | Synonymous | 6/8 | - | 2 |
| 4-110605772-C-CT | c.792dup | p.A265Cfs*16 | Frameshift | 6/8 | - | 1 |
| 4-110605772-CT-C | c.792del | p.F264Lfs*5 | Frameshift | 6/8 | - | 1 |
| 4-110605781-A-C | c.795A>C | p.A265= | Synonymous | 6/8 | - | 1 |
| 4-110605781-A-G | c.795A>G | p.A265= | Synonymous | 6/8 | - | 3 |
| 4-110605781-A-T | c.795A>T | p.A265= | Synonymous | 6/8 | - | 1 |
| 4-110605783-A-G | c.797A>G | p.Y266C | Missense | 6/8 | - | 4 |
| 4-110605786-T-G | c.800T>G | p.F267C | Missense | 6/8 | - | 1 |
| 4-110605793-C-A | c.807C>A | p.V269= | Synonymous | 6/8 | - | 1 |
| 4-110605793-C-G | c.807C>G | p.V269= | Synonymous | 6/8 | - | 1 |
| 4-110605793-C-T | c.807C>T | p.V269= | Synonymous | 6/8 | - | 1 |
| 4-110605795-C-T | c.809C>T | p.T270I | Missense | 6/8 | - | 1 |
| 4-110605797-C-T | c.811C>T | p.R271* | Nonsense | 6/8 | - | 4 |
| 4-110606410-T-C | c.820T>C | p.Y274H | Missense | 7/8 | - | 1 |
| 4-110606415-T-C | c.825T>C | p.T275= | Synonymous | 7/8 | - | 2 |
| 4-110606422-G-A | c.832G>A | p.A278T | Missense | 7/8 | - | 1 |
| 4-110606423-C-A | c.833C>A | p.A278D | Missense | 7/8 | - | 1 |
| 4-110606438-A-G | c.848A>G | p.Q283R | Missense | 7/8 | - | 1 |
| 4-110606461-A-T | c.871A>T | p.K291* | Nonsense | 7/8 | - | 1 |
| 4-110606481-T-C | c.891T>C | p.F297= | Synonymous | 7/8 | - | 2 |
| 4-110606485-G-A | c.895G>A | p.V299M | Missense | 7/8 | - | 1 |
| 4-110606494-T-A | c.904T>A | p.Y302N | Missense | 7/8 | - | 1 |
| 4-110606494-TACA-T | c.909_911del | p.N303del | InFrameDeletion | 7/8 | - | 1 |
| 4-110606512-G-A | c.922G>A | p.D308N | Missense | 7/8 | - | 1 |
| 4-110606514-C-T | c.924C>T | p.D308= | Synonymous | 7/8 | - | 1 |
| 4-110606516-T-G | c.926T>G | p.L309R | Missense | 7/8 | - | 3 |
| 4-110606523-G-A | c.933G>A | p.K311= | Synonymous | 7/8 | - | 3 |
| 4-110606713-T-A | c.933+190T>A | - | IntronicSNV | - | 7/7 | 1 |
| 4-110606713-T-C | c.933+190T>C | - | IntronicSNV | - | 7/7 | 2 |
| 4-110608121-T-G | c.934-550T>G | - | IntronicSNV | - | 7/7 | 1 |
| 4-110608536-C-T | c.934-135C>T | - | IntronicSNV | - | 7/7 | 2 |
| 4-110608671-G-T | c.934G>T | p.A312S | Missense | 8/8 | - | 1 |
| 4-110608675-A-C | c.938A>C | p.K313T | Missense | 8/8 | - | 1 |
| 4-110608676-A-G | c.939A>G | p.K313= | Synonymous | 8/8 | - | 1 |
| 4-110608683-C-T | c.946C>T | p.L316= | Synonymous | 8/8 | - | 1 |
| 4-110608685-G-A | c.948G>A | p.L316= | Synonymous | 8/8 | - | 1 |
| 4-110608685-G-C | c.948G>C | p.L316= | Synonymous | 8/8 | - | 1 |
| 4-110608685-G-T | c.948G>T | p.L316= | Synonymous | 8/8 | - | 1 |
| 4-110608688-A-G | c.951A>G | p.K317= | Synonymous | 8/8 | - | 2 |
| 4-110608695-C-T | c.958C>T | p.R320C | Missense | 8/8 | - | 1 |
| 4-110608696-G-A | c.959G>A | p.R320H | Missense | 8/8 | - | 6 |
| 4-110608699-A-G | c.962A>G | p.H321R | Missense | 8/8 | - | 1 |
| 4-110608704-C-T | c.967C>T | p.L323F | Missense | 8/8 | - | 1 |
| 4-110608706-C-T | c.969C>T | p.L323= | Synonymous | 8/8 | - | 1 |
| 4-110608706-C-CT | c.970dup | p.C324Lfs*11 | Frameshift | 8/8 | - | 1 |
| 4-110608707-T-C | c.970T>C | p.C324R | Missense | 8/8 | - | 2 |
| 4-110608708-G-A | c.971G>A | p.C324Y | Missense | 8/8 | - | 3 |
| 4-110608708-GT-G | c.974del | p.L325Cfs*5 | Frameshift | 8/8 | - | 1 |
| 4-110608713-C-T | c.976C>T | p.Q326* | Nonsense | 8/8 | - | 1 |
| 4-110608735-A-G | c.998A>G | p.N333S | Missense | 8/8 | - | 1 |
| 4-110608736-T-A | c.999T>A | p.N333K | Missense | 8/8 | - | 1 |
| 4-110608967-G-A | c.*219G>A | - | IntergenicSNV | 8/8 | - | 2 |
| 4-110609481-G-A | c.*733G>A | - | IntergenicSNV | 8/8 | - | 1 |