| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-78407637-G-A | c.-72G>A | - | 5-UTRSNV | 1/8 | - | 1 |
| 5-78407705-G-A | c.-4G>A | - | 5-UTRSNV | 1/8 | - | 1 |
| 5-78407705-G-C | c.-4G>C | - | 5-UTRSNV | 1/8 | - | 1 |
| 5-78407715-C-T | c.7C>T | p.P3S | Missense | 1/8 | - | 1 |
| 5-78407716-C-G | c.8C>G | p.P3R | Missense | 1/8 | - | 1 |
| 5-78407720-T-A | c.12T>A | p.V4= | Synonymous | 1/8 | - | 1 |
| 5-78407720-T-C | c.12T>C | p.V4= | Synonymous | 1/8 | - | 1 |
| 5-78407720-T-G | c.12T>G | p.V4= | Synonymous | 1/8 | - | 1 |
| 5-78407722-G-A | c.14G>A | p.G5E | Missense | 1/8 | - | 1 |
| 5-78407741-G-A | c.33G>A | p.K11= | Synonymous | 1/8 | - | 1 |
| 5-78407805-C-T | c.33+64C>T | - | IntronicSNV | - | 1/7 | 1 |
| 5-78407947-C-T | c.33+206C>T | - | IntronicSNV | - | 1/7 | 1 |
| 5-78409060-C-T | c.33+1319C>T | - | IntronicSNV | - | 1/7 | 5 |
| 5-78409396-T-C | c.33+1655T>C | - | IntronicSNV | - | 1/7 | 3 |
| 5-78409987-C-T | c.34-1603C>T | - | IntronicSNV | - | 1/7 | 6 |
| 5-78410564-A-G | c.34-1026A>G | - | IntronicSNV | - | 1/7 | 4 |
| 5-78411324-C-T | c.34-266C>T | - | IntronicSNV | - | 1/7 | 12 |
| 5-78411426-T-C | c.34-164T>C | - | IntronicSNV | - | 1/7 | 3 |
| 5-78411591-G-A | c.35G>A | p.G12D | Missense | 2/8 | - | 1 |
| 5-78411591-G-T | c.35G>T | p.G12V | Missense | 2/8 | - | 1 |
| 5-78411592-C-A | c.36C>A | p.G12= | Synonymous | 2/8 | - | 1 |
| 5-78411592-C-G | c.36C>G | p.G12= | Synonymous | 2/8 | - | 1 |
| 5-78411592-C-T | c.36C>T | p.G12= | Synonymous | 2/8 | - | 2 |
| 5-78411594-T-A | c.38T>A | p.I13N | Missense | 2/8 | - | 4 |
| 5-78411595-C-T | c.39C>T | p.I13= | Synonymous | 2/8 | - | 2 |
| 5-78411600-A-C | c.44A>C | p.E15A | Missense | 2/8 | - | 1 |
| 5-78411602-C-A | c.46C>A | p.R16S | Missense | 2/8 | - | 1 |
| 5-78411602-C-T | c.46C>T | p.R16C | Missense | 2/8 | - | 3 |
| 5-78411603-G-A | c.47G>A | p.R16H | Missense | 2/8 | - | 4 |
| 5-78411603-G-T | c.47G>T | p.R16L | Missense | 2/8 | - | 1 |
| 5-78411611-GCT-AAG | c.55_57delinsAAG | p.A19K | Missense | 2/8 | - | 1 |
| 5-78411611-GC-TT | c.55_56delinsTT | p.A19F | Missense | 2/8 | - | 2 |
| 5-78411613-T-A | c.57T>A | p.A19= | Synonymous | 2/8 | - | 2 |
| 5-78411613-T-C | c.57T>C | p.A19= | Synonymous | 2/8 | - | 2 |
| 5-78411613-T-G | c.57T>G | p.A19= | Synonymous | 2/8 | - | 3 |
| 5-78411621-T-A | c.65T>A | p.I22N | Missense | 2/8 | - | 1 |
| 5-78411622-T-C | c.66T>C | p.I22= | Synonymous | 2/8 | - | 1 |
| 5-78411630-G-A | c.74G>A | p.G25E | Missense | 2/8 | - | 1 |
| 5-78411630-G-C | c.74G>C | p.G25A | Missense | 2/8 | - | 1 |
| 5-78411632-G-A | c.76G>A | p.D26N | Missense | 2/8 | - | 4 |
| 5-78411636-G-A | c.80G>A | p.G27E | Missense | 2/8 | - | 2 |
| 5-78411638-GGG-AGC | c.82_84delinsAGC | p.G28S | Missense | 2/8 | - | 1 |
| 5-78411640-G-A | c.84G>A | p.G28= | Synonymous | 2/8 | - | 3 |
| 5-78411641-T-G | c.85T>G | p.F29V | Missense | 2/8 | - | 1 |
| 5-78411646-C-A | c.90C>A | p.V30= | Synonymous | 2/8 | - | 2 |
| 5-78411646-C-G | c.90C>G | p.V30= | Synonymous | 2/8 | - | 1 |
| 5-78411646-C-T | c.90C>T | p.V30= | Synonymous | 2/8 | - | 1 |
| 5-78411646-C-CT | c.93dup | p.A32Cfs*16 | Frameshift | 2/8 | - | 1 |
| 5-78411649-T-C | c.93T>C | p.F31= | Synonymous | 2/8 | - | 1 |
| 5-78411650-GC-AT | c.94_95delinsAT | p.A32I | Missense | 2/8 | - | 1 |
| 5-78411651-C-T | c.95C>T | p.A32V | Missense | 2/8 | - | 3 |
| 5-78411652-A-G | c.96A>G | p.A32= | Synonymous | 2/8 | - | 1 |
| 5-78411654-T-C | c.98T>C | p.L33P | Missense | 2/8 | - | 2 |
| 5-78411656-G-A | c.100G>A | p.E34K | Missense | 2/8 | - | 2 |
| 5-78411657-A-T | c.101A>T | p.E34V | Missense | 2/8 | - | 4 |
| 5-78411662-A-G | c.106A>G | p.R36G | Missense | 2/8 | - | 1 |
| 5-78411664-G-C | c.108G>C | p.R36S | Missense | 2/8 | - | 1 |
| 5-78411664-G-T | c.108G>T | p.R36S | Missense | 2/8 | - | 1 |
| 5-78411666-G-A | c.110G>A | p.G37D | Missense | 2/8 | - | 1 |
| 5-78411670-C-T | c.114C>T | p.Y38= | Synonymous | 2/8 | - | 1 |
| 5-78411679-A-C | c.123A>C | p.A41= | Synonymous | 2/8 | - | 1 |
| 5-78411679-A-G | c.123A>G | p.A41= | Synonymous | 2/8 | - | 1 |
| 5-78411679-A-T | c.123A>T | p.A41= | Synonymous | 2/8 | - | 1 |
| 5-78411680-G-A | c.124G>A | p.G42R | Missense | 2/8 | - | 2 |
| 5-78411680-G-C | c.124G>C | p.G42R | Missense | 2/8 | - | 2 |
| 5-78411681-G-A | c.125G>A | p.G42E | Missense | 2/8 | - | 1 |
| 5-78411686-TG-GC | c.130_131delinsGC | p.W44A | Missense | 2/8 | - | 1 |
| 5-78411687-GG-TT | c.131_132delinsTT | p.W44F | Missense | 2/8 | - | 1 |
| 5-78411692-C-T | c.136C>T | p.P46S | Missense | 2/8 | - | 2 |
| 5-78411693-C-T | c.137C>T | p.P46L | Missense | 2/8 | - | 4 |
| 5-78411701-G-T | c.145G>T | p.A49S | Missense | 2/8 | - | 1 |
| 5-78411716-G-A | c.160G>A | p.E54K | Missense | 2/8 | - | 4 |
| 5-78411722-G-A | c.166G>A | p.V56I | Missense | 2/8 | - | 1 |
| 5-78411763-G-A | c.166+41G>A | - | IntronicSNV | - | 2/7 | 1 |
| 5-78411822-C-G | c.166+100C>G | - | IntronicSNV | - | 2/7 | 3 |
| 5-78412044-T-C | c.166+322T>C | - | IntronicSNV | - | 2/7 | 2 |
| 5-78413504-T-C | c.167-1578T>C | - | IntronicSNV | - | 2/7 | 3 |
| 5-78414232-G-C | c.167-850G>C | - | IntronicSNV | - | 2/7 | 1 |
| 5-78414337-T-A | c.167-745T>A | - | IntronicSNV | - | 2/7 | 6 |
| 5-78414337-T-C | c.167-745T>C | - | IntronicSNV | - | 2/7 | 6 |
| 5-78415082-T-C | c.167T>C | p.V56A | Missense | 3/8 | - | 1 |
| 5-78415084-C-T | c.169C>T | p.R57C | Missense | 3/8 | - | 10 |
| 5-78415085-G-A | c.170G>A | p.R57H | Missense | 3/8 | - | 5 |
| 5-78415088-A-C | c.173A>C | p.Q58P | Missense | 3/8 | - | 1 |
| 5-78415089-G-T | c.174G>T | p.Q58H | Missense | 3/8 | - | 1 |
| 5-78415090-C-G | c.175C>G | p.L59V | Missense | 3/8 | - | 2 |
| 5-78415090-C-T | c.175C>T | p.L59F | Missense | 3/8 | - | 1 |
| 5-78415091-T-C | c.176T>C | p.L59P | Missense | 3/8 | - | 1 |
| 5-78415096-C-G | c.181C>G | p.R61G | Missense | 3/8 | - | 1 |
| 5-78415099-G-C | c.184G>C | p.E62Q | Missense | 3/8 | - | 1 |
| 5-78415104-C-T | c.189C>T | p.F63= | Synonymous | 3/8 | - | 1 |
| 5-78415105-C-A | c.190C>A | p.L64I | Missense | 3/8 | - | 1 |
| 5-78415111-GC-TG | c.196_197delinsTG | p.A66C | Missense | 3/8 | - | 1 |
| 5-78415112-C-G | c.197C>G | p.A66G | Missense | 3/8 | - | 38 |
| 5-78415112-C-T | c.197C>T | p.A66V | Missense | 3/8 | - | 1 |
| 5-78415119-A-T | c.204A>T | p.S68= | Synonymous | 3/8 | - | 2 |
| 5-78415122-C-T | c.207C>T | p.N69= | Synonymous | 3/8 | - | 3 |
| 5-78415123-G-A | c.208G>A | p.V70I | Missense | 3/8 | - | 1 |
| 5-78415124-T-C | c.209T>C | p.V70A | Missense | 3/8 | - | 1 |
| 5-78415128-G-A | c.213G>A | p.M71I | Missense | 3/8 | - | 3 |
| 5-78415128-G-C | c.213G>C | p.M71I | Missense | 3/8 | - | 2 |
| 5-78415128-G-T | c.213G>T | p.M71I | Missense | 3/8 | - | 2 |
| 5-78415130-A-C | c.215A>C | p.Q72P | Missense | 3/8 | - | 9 |
| 5-78415131-G-A | c.216G>A | p.Q72= | Synonymous | 3/8 | - | 1 |
| 5-78415137-C-T | c.222C>T | p.F74= | Synonymous | 3/8 | - | 2 |
| 5-78415139-C-A | c.224C>A | p.T75N | Missense | 3/8 | - | 2 |
| 5-78415144-T-A | c.229T>A | p.Y77N | Missense | 3/8 | - | 1 |
| 5-78415144-TA-GC | c.229_230delinsGC | p.Y77A | Missense | 3/8 | - | 1 |
| 5-78415145-A-T | c.230A>T | p.Y77F | Missense | 3/8 | - | 2 |
| 5-78415149-G-A | c.234G>A | p.A78= | Synonymous | 3/8 | - | 1 |
| 5-78415151-G-A | c.236G>A | p.S79N | Missense | 3/8 | - | 2 |
| 5-78415156-G-A | c.241G>A | p.D81N | Missense | 3/8 | - | 1 |
| 5-78415158-C-T | c.243C>T | p.D81= | Synonymous | 3/8 | - | 1 |
| 5-78415164-G-A | c.249G>A | p.L83= | Synonymous | 3/8 | - | 2 |
| 5-78415167-G-A | c.252G>A | p.E84= | Synonymous | 3/8 | - | 1 |
| 5-78415171-AG-CA | c.256_257delinsCA | p.R86Q | Missense | 3/8 | - | 3 |
| 5-78415171-A-T | c.256A>T | p.R86W | Missense | 3/8 | - | 1 |
| 5-78415174-G-C | c.259G>C | p.G87R | Missense | 3/8 | - | 1 |
| 5-78415191-G-A | c.276G>A | p.E92= | Synonymous | 3/8 | - | 2 |
| 5-78415191-G-C | c.276G>C | p.E92D | Missense | 3/8 | - | 1 |
| 5-78415191-G-T | c.276G>T | p.E92D | Missense | 3/8 | - | 1 |
| 5-78415195-A-AT | c.281dup | p.S95Ifs*7 | Frameshift | 3/8 | - | 1 |
| 5-78415199-C-A | c.284C>A | p.S95Y | Missense | 3/8 | - | 1 |
| 5-78416183-T-G | c.296T>G | p.V99G | Missense | 4/8 | - | 2 |
| 5-78416187-T-C | c.300T>C | p.N100= | Synonymous | 4/8 | - | 1 |
| 5-78416192-C-T | c.305C>T | p.A102V | Missense | 4/8 | - | 1 |
| 5-78416197-TG-GC | c.310_311delinsGC | p.C104A | Missense | 4/8 | - | 1 |
| 5-78416198-G-T | c.311G>T | p.C104F | Missense | 4/8 | - | 1 |
| 5-78416199-C-T | c.312C>T | p.C104= | Synonymous | 4/8 | - | 2 |
| 5-78416200-G-A | c.313G>A | p.D105N | Missense | 4/8 | - | 4 |
| 5-78416205-C-T | c.318C>T | p.I106= | Synonymous | 4/8 | - | 1 |
| 5-78416206-G-A | c.319G>A | p.A107T | Missense | 4/8 | - | 2 |
| 5-78416207-C-T | c.320C>T | p.A107V | Missense | 4/8 | - | 1 |
| 5-78416206-G-GC | c.322dup | p.R108Pfs*5 | Frameshift | 4/8 | - | 1 |
| 5-78416209-C-A | c.322C>A | p.R108= | Synonymous | 4/8 | - | 1 |
| 5-78416209-C-T | c.322C>T | p.R108* | Nonsense | 4/8 | - | 2 |
| 5-78416211-A-C | c.324A>C | p.R108= | Synonymous | 4/8 | - | 1 |
| 5-78416211-A-G | c.324A>G | p.R108= | Synonymous | 4/8 | - | 1 |
| 5-78416211-A-T | c.324A>T | p.R108= | Synonymous | 4/8 | - | 1 |
| 5-78416210-G-A | c.323G>A | p.R108Q | Missense | 4/8 | - | 2 |
| 5-78416216-TG-T | c.331del | p.A111Lfs*8 | Frameshift | 4/8 | - | 1 |
| 5-78416221-G-A | c.334G>A | p.D112N | Missense | 4/8 | - | 1 |
| 5-78416224-G-A | c.337G>A | p.E113K | Missense | 4/8 | - | 4 |
| 5-78416227-G-A | c.340G>A | p.G114R | Missense | 4/8 | - | 2 |
| 5-78416227-G-C | c.340G>C | p.G114R | Missense | 4/8 | - | 1 |
| 5-78416228-G-A | c.341G>A | p.G114E | Missense | 4/8 | - | 2 |
| 5-78416233-G-A | c.346G>A | p.A116T | Missense | 4/8 | - | 4 |
| 5-78416234-C-A | c.347C>A | p.A116D | Missense | 4/8 | - | 1 |
| 5-78416239-G-A | c.352G>A | p.V118I | Missense | 4/8 | - | 1 |
| 5-78416243-C-A | c.356C>A | p.A119E | Missense | 4/8 | - | 1 |
| 5-78416243-C-T | c.356C>T | p.A119V | Missense | 4/8 | - | 1 |
| 5-78416244-A-C | c.357A>C | p.A119= | Synonymous | 4/8 | - | 1 |
| 5-78416244-A-G | c.357A>G | p.A119= | Synonymous | 4/8 | - | 1 |
| 5-78416244-A-T | c.357A>T | p.A119= | Synonymous | 4/8 | - | 1 |
| 5-78416245-G-C | c.358G>C | p.G120R | Missense | 4/8 | - | 1 |
| 5-78416249-G-A | c.362G>A | p.G121E | Missense | 4/8 | - | 1 |
| 5-78416249-G-C | c.362G>C | p.G121A | Missense | 4/8 | - | 4 |
| 5-78416251-G-A | c.364G>A | p.V122M | Missense | 4/8 | - | 1 |
| 5-78416253-G-A | c.366G>A | p.V122= | Synonymous | 4/8 | - | 1 |
| 5-78416253-G-C | c.366G>C | p.V122= | Synonymous | 4/8 | - | 1 |
| 5-78416253-G-T | c.366G>T | p.V122= | Synonymous | 4/8 | - | 2 |
| 5-78416260-A-G | c.373A>G | p.T125A | Missense | 4/8 | - | 2 |
| 5-78416269-T-C | c.382T>C | p.Y128H | Missense | 4/8 | - | 2 |
| 5-78416272-C-T | c.385C>T | p.L129F | Missense | 4/8 | - | 2 |
| 5-78416278-T-A | c.391T>A | p.C131S | Missense | 4/8 | - | 1 |
| 5-78416278-TG-GC | c.391_392delinsGC | p.C131A | Missense | 4/8 | - | 1 |
| 5-78416279-G-C | c.392G>C | p.C131S | Missense | 4/8 | - | 1 |
| 5-78416280-C-T | c.393C>T | p.C131= | Synonymous | 4/8 | - | 1 |
| 5-78416283-G-A | c.396G>A | p.K132= | Synonymous | 4/8 | - | 1 |
| 5-78416291-C-A | c.404C>A | p.T135N | Missense | 4/8 | - | 3 |
| 5-78416292-CTG-C | c.405_406del | p.E136Sfs*26 | Frameshift | 4/8 | - | 1 |
| 5-78416293-G-A | c.406G>A | p.E136K | Missense | 4/8 | - | 3 |
| 5-78416293-G-T | c.406G>T | p.E136* | Nonsense | 4/8 | - | 1 |
| 5-78416298-C-CA | c.417dup | p.V140Sfs*23 | Frameshift | 4/8 | - | 1 |
| 5-78416305-G-A | c.418G>A | p.V140I | Missense | 4/8 | - | 1 |
| 5-78416312-T-C | c.425T>C | p.L142P | Missense | 4/8 | - | 1 |
| 5-78416319-G-T | c.432G>T | p.Q144H | Missense | 4/8 | - | 1 |
| 5-78416323-G-A | c.436G>A | p.E146K | Missense | 4/8 | - | 4 |
| 5-78416344-G-A | c.457G>A | p.V153M | Missense | 4/8 | - | 1 |
| 5-78416351-T-A | c.464T>A | p.F155Y | Missense | 4/8 | - | 1 |
| 5-78416353-T-C | c.466T>C | p.L156= | Synonymous | 4/8 | - | 1 |
| 5-78416355-G-A | c.468G>A | p.L156= | Synonymous | 4/8 | - | 1 |
| 5-78416357-T-C | c.470T>C | p.I157T | Missense | 4/8 | - | 1 |
| 5-78416362-G-A | c.475G>A | p.E159K | Missense | 4/8 | - | 1 |
| 5-78416362-G-C | c.475G>C | p.E159Q | Missense | 4/8 | - | 1 |
| 5-78416416-C-T | c.477+52C>T | - | IntronicSNV | - | 4/7 | 20 |
| 5-78416572-T-A | c.477+208T>A | - | IntronicSNV | - | 4/7 | 1 |
| 5-78416868-G-A | c.478-173G>A | - | IntronicSNV | - | 4/7 | 1 |
| 5-78416899-G-C | c.478-142G>C | - | IntronicSNV | - | 4/7 | 1 |
| 5-78416968-C-T | c.478-73C>T | - | IntronicSNV | - | 4/7 | 1 |
| 5-78417045-T-G | c.482T>G | p.F161C | Missense | 5/8 | - | 1 |
| 5-78417047-G-C | c.484G>C | p.E162Q | Missense | 5/8 | - | 3 |
| 5-78417047-G-T | c.484G>T | p.E162* | Nonsense | 5/8 | - | 1 |
| 5-78417053-G-A | c.490G>A | p.V164I | Missense | 5/8 | - | 3 |
| 5-78417056-G-A | c.493G>A | p.E165K | Missense | 5/8 | - | 1 |
| 5-78417063-C-T | c.500C>T | p.A167V | Missense | 5/8 | - | 4 |
| 5-78417067-G-A | c.504G>A | p.V168= | Synonymous | 5/8 | - | 1 |
| 5-78417067-G-C | c.504G>C | p.V168= | Synonymous | 5/8 | - | 1 |
| 5-78417067-G-T | c.504G>T | p.V168= | Synonymous | 5/8 | - | 1 |
| 5-78417069-GG-TT | c.506_507delinsTT | p.W169F | Missense | 5/8 | - | 1 |
| 5-78417074-G-A | c.511G>A | p.V171I | Missense | 5/8 | - | 1 |
| 5-78417075-T-A | c.512T>A | p.V171D | Missense | 5/8 | - | 1 |
| 5-78417076-T-G | c.513T>G | p.V171= | Synonymous | 5/8 | - | 1 |
| 5-78417077-G-A | c.514G>A | p.E172K | Missense | 5/8 | - | 1 |
| 5-78417077-G-T | c.514G>T | p.E172* | Nonsense | 5/8 | - | 1 |
| 5-78417084-T-C | c.521T>C | p.L174S | Missense | 5/8 | - | 1 |
| 5-78417087-T-C | c.524T>C | p.I175T | Missense | 5/8 | - | 1 |
| 5-78417092-TC-CG | c.529_530delinsCG | p.S177R | Missense | 5/8 | - | 1 |
| 5-78417094-C-T | c.531C>T | p.S177= | Synonymous | 5/8 | - | 1 |
| 5-78417095-G-A | c.532G>A | p.G178S | Missense | 5/8 | - | 1 |
| 5-78417099-A-T | c.536A>T | p.K179I | Missense | 5/8 | - | 2 |
| 5-78417102-C-T | c.539C>T | p.P180L | Missense | 5/8 | - | 3 |
| 5-78417107-G-A | c.544G>A | p.A182T | Missense | 5/8 | - | 7 |
| 5-78417108-C-T | c.545C>T | p.A182V | Missense | 5/8 | - | 1 |
| 5-78417119-T-C | c.556T>C | p.C186R | Missense | 5/8 | - | 1 |
| 5-78417119-TG-GC | c.556_557delinsGC | p.C186A | Missense | 5/8 | - | 1 |
| 5-78417123-T-G | c.560T>G | p.I187S | Missense | 5/8 | - | 2 |
| 5-78417125-G-A | c.562G>A | p.G188S | Missense | 5/8 | - | 5 |
| 5-78417125-G-T | c.562G>T | p.G188C | Missense | 5/8 | - | 1 |
| 5-78417131-G-T | c.568G>T | p.E190* | Nonsense | 5/8 | - | 1 |
| 5-78417134-G-T | c.571G>T | p.G191* | Nonsense | 5/8 | - | 1 |
| 5-78417135-G-A | c.572G>A | p.G191E | Missense | 5/8 | - | 2 |
| 5-78417142-G-C | c.579G>C | p.L193F | Missense | 5/8 | - | 2 |
| 5-78417142-G-T | c.579G>T | p.L193F | Missense | 5/8 | - | 3 |
| 5-78417148-C-A | c.585C>A | p.G195= | Synonymous | 5/8 | - | 1 |
| 5-78417148-C-G | c.585C>G | p.G195= | Synonymous | 5/8 | - | 1 |
| 5-78417148-C-T | c.585C>T | p.G195= | Synonymous | 5/8 | - | 2 |
| 5-78417149-G-A | c.586G>A | p.V196M | Missense | 5/8 | - | 2 |
| 5-78417152-C-A | c.589C>A | p.P197T | Missense | 5/8 | - | 2 |
| 5-78417152-C-T | c.589C>T | p.P197S | Missense | 5/8 | - | 5 |
| 5-78417156-C-T | c.593C>T | p.P198L | Missense | 5/8 | - | 1 |
| 5-78417151-G-GC | c.594dup | p.G199Rfs*22 | Frameshift | 5/8 | - | 2 |
| 5-78417157-C-A | c.594C>A | p.P198= | Synonymous | 5/8 | - | 1 |
| 5-78417157-C-T | c.594C>T | p.P198= | Synonymous | 5/8 | - | 1 |
| 5-78417158-G-A | c.595G>A | p.G199S | Missense | 5/8 | - | 12 |
| 5-78417158-G-C | c.595G>C | p.G199R | Missense | 5/8 | - | 3 |
| 5-78417160-C-T | c.597C>T | p.G199= | Synonymous | 5/8 | - | 1 |
| 5-78417161-G-A | c.598G>A | p.E200K | Missense | 5/8 | - | 1 |
| 5-78417164-TG-GC | c.601_602delinsGC | p.C201A | Missense | 5/8 | - | 1 |
| 5-78417165-G-A | c.602G>A | p.C201Y | Missense | 5/8 | - | 1 |
| 5-78417170-G-A | c.607G>A | p.V203M | Missense | 5/8 | - | 1 |
| 5-78417170-G-C | c.607G>C | p.V203L | Missense | 5/8 | - | 1 |
| 5-78417170-G-T | c.607G>T | p.V203L | Missense | 5/8 | - | 1 |
| 5-78417172-G-A | c.609G>A | p.V203= | Synonymous | 5/8 | - | 1 |
| 5-78417172-G-C | c.609G>C | p.V203= | Synonymous | 5/8 | - | 1 |
| 5-78417172-G-T | c.609G>T | p.V203= | Synonymous | 5/8 | - | 1 |
| 5-78417173-C-T | c.610C>T | p.R204C | Missense | 5/8 | - | 2 |
| 5-78417174-G-A | c.611G>A | p.R204H | Missense | 5/8 | - | 1 |
| 5-78417179-G-A | c.616G>A | p.V206M | Missense | 5/8 | - | 1 |
| 5-78417180-TG-AC | c.617_618delinsAC | p.V206D | Missense | 5/8 | - | 1 |
| 5-78417181-G-A | c.618G>A | p.V206= | Synonymous | 5/8 | - | 1 |
| 5-78417185-G-A | c.622G>A | p.A208T | Missense | 5/8 | - | 1 |
| 5-78417640-TA-T | c.625+469del | - | IntronicDeletion | - | 5/7 | 1 |
| 5-78421595-A-C | c.626-274A>C | - | IntronicSNV | - | 5/7 | 1 |
| 5-78421780-G-A | c.626-89G>A | - | IntronicSNV | - | 5/7 | 5 |
| 5-78421869-GGAGCATCCATCATTGGTGTGAACTGCCACTTTGAC-G | c.626_660del | p.G209Afs*4 | SpliceAcceptorDeletion | 6/8 | - | 1 |
| 5-78421869-G-T | c.626G>T | p.G209V | Missense | 6/8 | - | 1 |
| 5-78421875-C-A | c.632C>A | p.S211Y | Missense | 6/8 | - | 2 |
| 5-78421875-C-T | c.632C>T | p.S211F | Missense | 6/8 | - | 5 |
| 5-78421878-T-C | c.635T>C | p.I212T | Missense | 6/8 | - | 1 |
| 5-78421881-T-A | c.638T>A | p.I213N | Missense | 6/8 | - | 5 |
| 5-78421890-A-C | c.647A>C | p.N216T | Missense | 6/8 | - | 1 |
| 5-78421891-C-T | c.648C>T | p.N216= | Synonymous | 6/8 | - | 2 |
| 5-78421892-TG-CA | c.649_650inv | p.C217H | Missense | 6/8 | - | 1 |
| 5-78421894-C-A | c.651C>A | p.C217* | Nonsense | 6/8 | - | 1 |
| 5-78421894-C-T | c.651C>T | p.C217= | Synonymous | 6/8 | - | 1 |
| 5-78421899-T-G | c.656T>G | p.F219C | Missense | 6/8 | - | 1 |
| 5-78421900-T-C | c.657T>C | p.F219= | Synonymous | 6/8 | - | 1 |
| 5-78421905-C-T | c.662C>T | p.P221L | Missense | 6/8 | - | 2 |
| 5-78421917-TA-T | c.679del | p.T227Qfs*2 | Frameshift | 6/8 | - | 1 |
| 5-78421932-T-C | c.689T>C | p.L230P | Missense | 6/8 | - | 1 |
| 5-78421934-A-G | c.691A>G | p.M231V | Missense | 6/8 | - | 1 |
| 5-78421938-A-G | c.695A>G | p.K232R | Missense | 6/8 | - | 2 |
| 5-78421952-G-T | c.709G>T | p.A237S | Missense | 6/8 | - | 1 |
| 5-78421957-C-G | c.714C>G | p.A238= | Synonymous | 6/8 | - | 2 |
| 5-78421958-C-A | c.715C>A | p.R239= | Synonymous | 6/8 | - | 2 |
| 5-78421958-CGA-TGT | c.715_717delinsTGT | p.R239C | Missense | 6/8 | - | 1 |
| 5-78421960-A-C | c.717A>C | p.R239= | Synonymous | 6/8 | - | 2 |
| 5-78421960-A-G | c.717A>G | p.R239= | Synonymous | 6/8 | - | 2 |
| 5-78421960-A-T | c.717A>T | p.R239= | Synonymous | 6/8 | - | 2 |
| 5-78421959-G-A | c.716G>A | p.R239Q | Missense | 6/8 | - | 131 |
| 5-78421961-C-G | c.718C>G | p.L240V | Missense | 6/8 | - | 1 |
| 5-78421963-G-A | c.720G>A | p.L240= | Synonymous | 6/8 | - | 2 |
| 5-78421967-G-A | c.724G>A | p.A242T | Missense | 6/8 | - | 1 |
| 5-78421974-T-C | c.731T>C | p.L244P | Missense | 6/8 | - | 1 |
| 5-78421979-A-T | c.736A>T | p.S246C | Missense | 6/8 | - | 1 |
| 5-78421991-G-T | c.748G>T | p.A250S | Missense | 6/8 | - | 1 |
| 5-78422001-C-T | c.758C>T | p.T253I | Missense | 6/8 | - | 1 |
| 5-78422008-C-T | c.765C>T | p.D255= | Synonymous | 6/8 | - | 1 |
| 5-78422009-T-A | c.766T>A | p.C256S | Missense | 6/8 | - | 1 |
| 5-78422009-TG-GC | c.766_767delinsGC | p.C256A | Missense | 6/8 | - | 1 |
| 5-78422010-G-C | c.767G>C | p.C256S | Missense | 6/8 | - | 1 |
| 5-78422010-G-A | c.767G>A | p.C256Y | Missense | 6/8 | - | 2 |
| 5-78422012-AA-GG | c.769_770delinsGG | p.N257G | Missense | 6/8 | - | 1 |
| 5-78422012-A-G | c.769A>G | p.N257D | Missense | 6/8 | - | 3 |
| 5-78422018-C-T | c.775C>T | p.Q259* | Nonsense | 6/8 | - | 1 |
| 5-78422027-A-G | c.784A>G | p.I262V | Missense | 6/8 | - | 1 |
| 5-78422030-G-A | c.787G>A | p.D263N | Missense | 6/8 | - | 4 |
| 5-78422035-C-A | c.792C>A | p.L264= | Synonymous | 6/8 | - | 2 |
| 5-78422035-C-G | c.792C>G | p.L264= | Synonymous | 6/8 | - | 2 |
| 5-78422035-C-T | c.792C>T | p.L264= | Synonymous | 6/8 | - | 7 |
| 5-78422036-C-T | c.793C>T | p.P265S | Missense | 6/8 | - | 6 |
| 5-78422039-G-A | c.796G>A | p.E266K | Missense | 6/8 | - | 1 |
| 5-78422044-C-T | c.801C>T | p.F267= | Synonymous | 6/8 | - | 1 |
| 5-78422045-C-A | c.802C>A | p.P268T | Missense | 6/8 | - | 4 |
| 5-78422045-C-T | c.802C>T | p.P268S | Missense | 6/8 | - | 2 |
| 5-78422286-A-G | c.808+235A>G | - | IntronicSNV | - | 6/7 | 1 |
| 5-78422570-A-C | c.808+519A>C | - | IntronicSNV | - | 6/7 | 2 |
| 5-78422570-A-T | c.808+519A>T | - | IntronicSNV | - | 6/7 | 2 |
| 5-78423579-A-C | c.810A>C | p.G270= | Synonymous | 7/8 | - | 1 |
| 5-78423579-A-G | c.810A>G | p.G270= | Synonymous | 7/8 | - | 1 |
| 5-78423579-A-T | c.810A>T | p.G270= | Synonymous | 7/8 | - | 1 |
| 5-78423587-C-T | c.818C>T | p.P273L | Missense | 7/8 | - | 5 |
| 5-78423590-G-C | c.821G>C | p.R274T | Missense | 7/8 | - | 1 |
| 5-78423591-A-C | c.822A>C | p.R274S | Missense | 7/8 | - | 1 |
| 5-78423591-A-T | c.822A>T | p.R274S | Missense | 7/8 | - | 1 |
| 5-78423593-T-C | c.824T>C | p.V275A | Missense | 7/8 | - | 1 |
| 5-78423595-G-T | c.826G>T | p.A276S | Missense | 7/8 | - | 1 |
| 5-78423596-C-T | c.827C>T | p.A276V | Missense | 7/8 | - | 1 |
| 5-78423600-C-A | c.831C>A | p.T277= | Synonymous | 7/8 | - | 1 |
| 5-78423605-GG-TT | c.836_837delinsTT | p.W279F | Missense | 7/8 | - | 1 |
| 5-78423610-A-C | c.841A>C | p.I281L | Missense | 7/8 | - | 1 |
| 5-78423617-A-T | c.848A>T | p.K283I | Missense | 7/8 | - | 2 |
| 5-78423621-C-T | c.852C>T | p.Y284= | Synonymous | 7/8 | - | 7 |
| 5-78423623-C-T | c.854C>T | p.A285V | Missense | 7/8 | - | 2 |
| 5-78423629-A-T | c.860A>T | p.E287V | Missense | 7/8 | - | 1 |
| 5-78423630-G-T | c.861G>T | p.E287D | Missense | 7/8 | - | 1 |
| 5-78423632-C-G | c.863C>G | p.A288G | Missense | 7/8 | - | 1 |
| 5-78423633-C-A | c.864C>A | p.A288= | Synonymous | 7/8 | - | 2 |
| 5-78423638-A-G | c.869A>G | p.N290S | Missense | 7/8 | - | 1 |
| 5-78423641-TG-T | c.877del | p.V293Sfs*65 | Frameshift | 7/8 | - | 3 |
| 5-78423650-G-A | c.881G>A | p.R294K | Missense | 7/8 | - | 1 |
| 5-78423650-G-T | c.881G>T | p.R294M | Missense | 7/8 | - | 1 |
| 5-78423669-T-C | c.900T>C | p.C300= | Synonymous | 7/8 | - | 1 |
| 5-78423672-A-C | c.903A>C | p.G301= | Synonymous | 7/8 | - | 1 |
| 5-78423672-A-G | c.903A>G | p.G301= | Synonymous | 7/8 | - | 1 |
| 5-78423672-A-T | c.903A>T | p.G301= | Synonymous | 7/8 | - | 1 |
| 5-78423677-A-C | c.908A>C | p.E303A | Missense | 7/8 | - | 1 |
| 5-78423681-C-A | c.912C>A | p.P304= | Synonymous | 7/8 | - | 1 |
| 5-78423682-T-C | c.913T>C | p.Y305H | Missense | 7/8 | - | 4 |
| 5-78423692-G-A | c.923G>A | p.R308K | Missense | 7/8 | - | 1 |
| 5-78423703-G-A | c.934G>A | p.E312K | Missense | 7/8 | - | 4 |
| 5-78423706-G-A | c.937G>A | p.E313K | Missense | 7/8 | - | 4 |
| 5-78423709-GCT-G | c.940_941del | p.L314Gfs*30 | Frameshift | 7/8 | - | 1 |
| 5-78423712-G-A | c.943G>A | p.A315T | Missense | 7/8 | - | 1 |
| 5-78423712-GC-G | c.947del | p.P316Qfs*42 | Frameshift | 7/8 | - | 2 |
| 5-78423716-C-A | c.947C>A | p.P316Q | Missense | 7/8 | - | 1 |
| 5-78423717-A-T | c.948A>T | p.P316= | Synonymous | 7/8 | - | 1 |
| 5-78423718-G-C | c.949G>C | p.E317Q | Missense | 7/8 | - | 1 |
| 5-78423722-G-A | c.953G>A | p.R318K | Missense | 7/8 | - | 1 |
| 5-78423726-C-CT | c.962dup | p.L321Ffs*24 | Frameshift | 7/8 | - | 1 |
| 5-78423733-C-T | c.964C>T | p.P322S | Missense | 7/8 | - | 1 |
| 5-78423735-A-C | c.966A>C | p.P322= | Synonymous | 7/8 | - | 1 |
| 5-78423735-A-G | c.966A>G | p.P322= | Synonymous | 7/8 | - | 3 |
| 5-78423735-A-T | c.966A>T | p.P322= | Synonymous | 7/8 | - | 1 |
| 5-78423738-A-G | c.969A>G | p.P323= | Synonymous | 7/8 | - | 1 |
| 5-78423743-C-A | c.974C>A | p.S325* | Nonsense | 7/8 | - | 1 |
| 5-78423743-C-G | c.974C>G | p.S325* | Nonsense | 7/8 | - | 1 |
| 5-78423758-G-A | c.989G>A | p.S330N | Missense | 7/8 | - | 1 |
| 5-78423757-A-C | c.988A>C | p.S330R | Missense | 7/8 | - | 1 |
| 5-78423759-C-A | c.990C>A | p.S330R | Missense | 7/8 | - | 1 |
| 5-78423759-C-G | c.990C>G | p.S330R | Missense | 7/8 | - | 1 |
| 5-78423761-GG-TT | c.992_993delinsTT | p.W331F | Missense | 7/8 | - | 1 |
| 5-78423780-G-A | c.1011G>A | p.M337I | Missense | 7/8 | - | 1 |
| 5-78423782-A-G | c.1013A>G | p.H338R | Missense | 7/8 | - | 1 |
| 5-78423784-A-G | c.1015A>G | p.T339A | Missense | 7/8 | - | 1 |
| 5-78423784-A-T | c.1015A>T | p.T339S | Missense | 7/8 | - | 2 |
| 5-78423785-C-G | c.1016C>G | p.T339S | Missense | 7/8 | - | 3 |
| 5-78423787-A-C | c.1018A>C | p.K340Q | Missense | 7/8 | - | 2 |
| 5-78423794-GG-TT | c.1025_1026delinsTT | p.W342F | Missense | 7/8 | - | 1 |
| 5-78423797-T-C | c.1028T>C | p.V343A | Missense | 7/8 | - | 1 |
| 5-78424154-G-A | c.1037+348G>A | - | IntronicSNV | - | 7/7 | 1 |
| 5-78424626-A-T | c.1037+820A>T | - | IntronicSNV | - | 7/7 | 1 |
| 5-78424625-TA-T | c.1037+828del | - | IntronicDeletion | - | 7/7 | 1 |
| 5-78425167-T-C | c.1037+1361T>C | - | IntronicSNV | - | 7/7 | 1 |
| 5-78425188-C-A | c.1037+1382C>A | - | IntronicSNV | - | 7/7 | 8 |
| 5-78425188-C-T | c.1037+1382C>T | - | IntronicSNV | - | 7/7 | 8 |
| 5-78426650-G-A | c.1038-106G>A | - | IntronicSNV | - | 7/7 | 2 |
| 5-78426729-C-G | c.1038-27C>G | - | IntronicSNV | - | 7/7 | 4 |
| 5-78426758-C-T | c.1040C>T | p.A347V | Missense | 8/8 | - | 1 |
| 5-78426761-G-C | c.1043G>C | p.R348T | Missense | 8/8 | - | 1 |
| 5-78426765-G-A | c.1047G>A | p.K349= | Synonymous | 8/8 | - | 3 |
| 5-78426767-A-G | c.1049A>G | p.E350G | Missense | 8/8 | - | 1 |
| 5-78426772-TG-GC | c.1054_1055delinsGC | p.W352A | Missense | 8/8 | - | 2 |
| 5-78426773-GG-TT | c.1055_1056delinsTT | p.W352F | Missense | 8/8 | - | 1 |
| 5-78426775-G-A | c.1057G>A | p.E353K | Missense | 8/8 | - | 1 |
| 5-78426775-G-C | c.1057G>C | p.E353Q | Missense | 8/8 | - | 1 |
| 5-78426777-G-A | c.1059G>A | p.E353= | Synonymous | 8/8 | - | 1 |
| 5-78426779-A-G | c.1061A>G | p.N354S | Missense | 8/8 | - | 1 |
| 5-78426781-C-A | c.1063C>A | p.L355I | Missense | 8/8 | - | 4 |
| 5-78426784-C-T | c.1066C>T | p.R356W | Missense | 8/8 | - | 2 |
| 5-78426785-G-A | c.1067G>A | p.R356Q | Missense | 8/8 | - | 3 |
| 5-78426791-C-G | c.1073C>G | p.A358G | Missense | 8/8 | - | 1 |
| 5-78426791-C-T | c.1073C>T | p.A358V | Missense | 8/8 | - | 1 |
| 5-78426794-CA-GT | c.1076_1077delinsGT | p.S359C | Missense | 8/8 | - | 1 |
| 5-78426800-G-A | c.1082G>A | p.R361Q | Missense | 8/8 | - | 4 |
| 5-78426800-G-C | c.1082G>C | p.R361P | Missense | 8/8 | - | 1 |
| 5-78426802-C-T | c.1084C>T | p.P362S | Missense | 8/8 | - | 1 |
| 5-78426807-C-T | c.1089C>T | p.Y363= | Synonymous | 8/8 | - | 1 |
| 5-78426814-T-C | c.1096T>C | p.S366P | Missense | 8/8 | - | 1 |
| 5-78426815-C-T | c.1097C>T | p.S366L | Missense | 8/8 | - | 1 |
| 5-78426817-A-G | c.1099A>G | p.M367V | Missense | 8/8 | - | 1 |
| 5-78426821-C-A | c.1103C>A | p.S368* | Nonsense | 8/8 | - | 1 |
| 5-78426821-C-G | c.1103C>G | p.S368* | Nonsense | 8/8 | - | 1 |
| 5-78426823-AA-GC | c.1105_1106delinsGC | p.K369A | Missense | 8/8 | - | 1 |
| 5-78426827-C-G | c.1109C>G | p.P370R | Missense | 8/8 | - | 1 |
| 5-78426827-C-CA | c.1110dup | p.D371Rfs*21 | Frameshift | 8/8 | - | 1 |
| 5-78426832-G-C | c.1114G>C | p.G372R | Missense | 8/8 | - | 2 |
| 5-78426832-G-T | c.1114G>T | p.G372C | Missense | 8/8 | - | 2 |
| 5-78426836-GG-TT | c.1118_1119delinsTT | p.W373F | Missense | 8/8 | - | 1 |
| 5-78426843-G-A | c.1125G>A | p.V375= | Synonymous | 8/8 | - | 2 |
| 5-78426847-A-G | c.1129A>G | p.K377E | Missense | 8/8 | - | 2 |
| 5-78426848-A-G | c.1130A>G | p.K377R | Missense | 8/8 | - | 1 |
| 5-78426849-A-G | c.1131A>G | p.K377= | Synonymous | 8/8 | - | 2 |
| 5-78426850-G-A | c.1132G>A | p.G378R | Missense | 8/8 | - | 1 |
| 5-78426850-G-C | c.1132G>C | p.G378R | Missense | 8/8 | - | 1 |
| 5-78426851-G-A | c.1133G>A | p.G378E | Missense | 8/8 | - | 1 |
| 5-78426854-C-A | c.1136C>A | p.T379K | Missense | 8/8 | - | 1 |
| 5-78426854-C-T | c.1136C>T | p.T379I | Missense | 8/8 | - | 1 |
| 5-78426857-C-G | c.1139C>G | p.A380G | Missense | 8/8 | - | 1 |
| 5-78426858-C-A | c.1140C>A | p.A380= | Synonymous | 8/8 | - | 2 |
| 5-78426858-C-G | c.1140C>G | p.A380= | Synonymous | 8/8 | - | 2 |
| 5-78426858-C-T | c.1140C>T | p.A380= | Synonymous | 8/8 | - | 3 |
| 5-78426859-G-A | c.1141G>A | p.E381K | Missense | 8/8 | - | 4 |
| 5-78426859-G-C | c.1141G>C | p.E381Q | Missense | 8/8 | - | 1 |
| 5-78426859-G-T | c.1141G>T | p.E381* | Nonsense | 8/8 | - | 5 |
| 5-78426861-G-A | c.1143G>A | p.E381= | Synonymous | 8/8 | - | 2 |
| 5-78426861-G-C | c.1143G>C | p.E381D | Missense | 8/8 | - | 2 |
| 5-78426861-G-T | c.1143G>T | p.E381D | Missense | 8/8 | - | 1 |
| 5-78426877-G-A | c.1159G>A | p.E387K | Missense | 8/8 | - | 1 |
| 5-78426877-G-T | c.1159G>T | p.E387* | Nonsense | 8/8 | - | 1 |
| 5-78426879-A-G | c.1161A>G | p.E387= | Synonymous | 8/8 | - | 1 |
| 5-78426883-A-T | c.1165A>T | p.T389S | Missense | 8/8 | - | 2 |
| 5-78426884-C-T | c.1166C>T | p.T389I | Missense | 8/8 | - | 1 |
| 5-78426886-A-G | c.1168A>G | p.T390A | Missense | 8/8 | - | 2 |
| 5-78426888-CTG-C | c.1170_1171del | p.E391Afs*8 | Frameshift | 8/8 | - | 1 |
| 5-78426892-C-G | c.1174C>G | p.Q392E | Missense | 8/8 | - | 4 |
| 5-78426901-A-C | c.1183A>C | p.K395Q | Missense | 8/8 | - | 2 |
| 5-78426902-A-G | c.1184A>G | p.K395R | Missense | 8/8 | - | 1 |
| 5-78426900-GA-G | c.1185del | p.E396Sfs*19 | Frameshift | 8/8 | - | 1 |
| 5-78426906-G-T | c.1188G>T | p.E396D | Missense | 8/8 | - | 1 |
| 5-78426913-GA-G | c.1200del | p.K400Nfs*15 | Frameshift | 8/8 | - | 1 |
| 5-78426927-C-A | c.1209C>A | p.F403L | Missense | 8/8 | - | 2 |
| 5-78426934-ACAG-A | c.1216_1218del | p.Q406del | InFrameDeletion | 8/8 | - | 1 |
| 5-78426969-C-G | c.*30C>G | - | 3-UTRSNV | 8/8 | - | 1 |
| 5-78427208-T-A | c.*269T>A | - | 3-UTRSNV | 8/8 | - | 19 |
| 5-78427686-C-T | c.*747C>T | - | 3-UTRSNV | 8/8 | - | 1 |