| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-96271804-C-T | c.-56C>T | - | 5-UTRSNV | 1/18 | - | 1 |
| 5-96271809-G-T | c.-51G>T | - | 5-UTRSNV | 1/18 | - | 1 |
| 5-96271868-C-T | c.9C>T | p.P3= | Synonymous | 1/18 | - | 1 |
| 5-96272420-T-G | c.19+542T>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96273033-A-C | c.19+1155A>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96273033-A-T | c.19+1155A>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96273034-T-C | c.19+1156T>C | - | IntronicSNV | - | 1/17 | 2 |
| 5-96273180-G-A | c.19+1302G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96273187-G-A | c.19+1309G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96273187-G-T | c.19+1309G>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96273298-C-T | c.19+1420C>T | - | IntronicSNV | - | 1/17 | 7 |
| 5-96273767-T-C | c.19+1889T>C | - | IntronicSNV | - | 1/17 | 2 |
| 5-96274223-C-T | c.19+2345C>T | - | IntronicSNV | - | 1/17 | 3 |
| 5-96274720-G-T | c.19+2842G>T | - | IntronicSNV | - | 1/17 | 3 |
| 5-96275154-G-A | c.19+3276G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96275154-G-T | c.19+3276G>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96275166-C-T | c.19+3288C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96275186-C-T | c.19+3308C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96275201-G-A | c.19+3323G>A | - | IntronicSNV | - | 1/17 | 3 |
| 5-96275309-T-C | c.19+3431T>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96275308-GT-G | c.19+3440del | - | IntronicDeletion | - | 1/17 | 1 |
| 5-96275413-C-T | c.19+3535C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96276386-A-G | c.19+4508A>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96276395-G-C | c.19+4517G>C | - | IntronicSNV | - | 1/17 | 2 |
| 5-96276877-C-T | c.19+4999C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96277721-G-A | c.19+5843G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96278577-TA-T | c.19+6706del | - | IntronicDeletion | - | 1/17 | 1 |
| 5-96278948-T-A | c.19+7070T>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96278948-T-G | c.19+7070T>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96279053-C-T | c.19+7175C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96279490-A-G | c.19+7612A>G | - | IntronicSNV | - | 1/17 | 5 |
| 5-96279490-A-T | c.19+7612A>T | - | IntronicSNV | - | 1/17 | 5 |
| 5-96280248-G-T | c.19+8370G>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96280254-C-T | c.19+8376C>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96280257-A-C | c.19+8379A>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96280257-A-T | c.19+8379A>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96281043-A-G | c.19+9165A>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96281043-A-T | c.19+9165A>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96281402-C-T | c.19+9524C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96281469-C-T | c.19+9591C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96281662-C-A | c.19+9784C>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96281662-C-T | c.19+9784C>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96283821-T-C | c.19+11943T>C | - | IntronicSNV | - | 1/17 | 2 |
| 5-96284803-G-A | c.19+12925G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96284892-C-T | c.19+13014C>T | - | IntronicSNV | - | 1/17 | 2 |
| 5-96285821-C-G | c.19+13943C>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96286286-G-A | c.19+14408G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96286969-C-A | c.19+15091C>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96286969-C-G | c.19+15091C>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96286969-C-T | c.19+15091C>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96288138-A-G | c.19+16260A>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96288960-G-A | c.19+17082G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96289043-G-T | c.19+17165G>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96289711-G-A | c.19+17833G>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96289711-G-C | c.19+17833G>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96289711-G-T | c.19+17833G>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96290230-G-A | c.19+18352G>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96290324-A-C | c.19+18446A>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96290324-A-G | c.19+18446A>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96290647-C-T | c.19+18769C>T | - | IntronicSNV | - | 1/17 | 10 |
| 5-96292004-T-A | c.19+20126T>A | - | IntronicSNV | - | 1/17 | 8 |
| 5-96293006-C-A | c.19+21128C>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96293153-A-G | c.19+21275A>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96293816-A-G | c.20-21026A>G | - | IntronicSNV | - | 1/17 | 4 |
| 5-96293929-G-A | c.20-20913G>A | - | IntronicSNV | - | 1/17 | 3 |
| 5-96293929-G-T | c.20-20913G>T | - | IntronicSNV | - | 1/17 | 3 |
| 5-96295121-G-T | c.20-19721G>T | - | IntronicSNV | - | 1/17 | 3 |
| 5-96295810-T-C | c.20-19032T>C | - | IntronicSNV | - | 1/17 | 2 |
| 5-96297527-T-A | c.20-17315T>A | - | IntronicSNV | - | 1/17 | 2 |
| 5-96298758-T-A | c.20-16084T>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96298758-T-C | c.20-16084T>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96299983-T-C | c.20-14859T>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96299983-T-G | c.20-14859T>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96301142-G-C | c.20-13700G>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96301142-G-T | c.20-13700G>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96303148-G-A | c.20-11694G>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96303148-G-C | c.20-11694G>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96303698-A-T | c.20-11144A>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96306314-A-ATT | c.20-8521_20-8520dup | - | IntronicInsertion | - | 1/17 | 1 |
| 5-96306314-A-AT | c.20-8520dup | - | IntronicInsertion | - | 1/17 | 1 |
| 5-96307158-T-A | c.20-7684T>A | - | IntronicSNV | - | 1/17 | 1 |
| 5-96307158-T-C | c.20-7684T>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96307359-T-C | c.20-7483T>C | - | IntronicSNV | - | 1/17 | 1 |
| 5-96307612-G-A | c.20-7230G>A | - | IntronicSNV | - | 1/17 | 3 |
| 5-96307636-A-G | c.20-7206A>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96307636-A-T | c.20-7206A>T | - | IntronicSNV | - | 1/17 | 1 |
| 5-96314230-A-G | c.20-612A>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96314502-T-G | c.20-340T>G | - | IntronicSNV | - | 1/17 | 1 |
| 5-96314795-T-G | c.20-47T>G | - | IntronicSNV | - | 1/17 | 2 |
| 5-96314844-C-A | c.22C>A | p.R8= | Synonymous | 2/18 | - | 1 |
| 5-96314844-C-T | c.22C>T | p.R8W | Missense | 2/18 | - | 2 |
| 5-96314846-G-A | c.24G>A | p.R8= | Synonymous | 2/18 | - | 1 |
| 5-96314846-G-C | c.24G>C | p.R8= | Synonymous | 2/18 | - | 1 |
| 5-96314846-G-T | c.24G>T | p.R8= | Synonymous | 2/18 | - | 1 |
| 5-96314847-C-T | c.25C>T | p.L9F | Missense | 2/18 | - | 1 |
| 5-96314850-C-T | c.28C>T | p.Q10* | Nonsense | 2/18 | - | 1 |
| 5-96314852-G-A | c.30G>A | p.Q10= | Synonymous | 2/18 | - | 1 |
| 5-96314853-C-G | c.31C>G | p.L11V | Missense | 2/18 | - | 1 |
| 5-96314855-C-T | c.33C>T | p.L11= | Synonymous | 2/18 | - | 1 |
| 5-96314856-C-G | c.34C>G | p.P12A | Missense | 2/18 | - | 1 |
| 5-96314857-C-G | c.35C>G | p.P12R | Missense | 2/18 | - | 1 |
| 5-96314860-G-C | c.38G>C | p.R13T | Missense | 2/18 | - | 1 |
| 5-96314861-G-A | c.39G>A | p.R13= | Synonymous | 2/18 | - | 1 |
| 5-96314870-T-A | c.48T>A | p.I16= | Synonymous | 2/18 | - | 1 |
| 5-96314870-T-C | c.48T>C | p.I16= | Synonymous | 2/18 | - | 1 |
| 5-96314871-G-A | c.49G>A | p.E17K | Missense | 2/18 | - | 1 |
| 5-96314875-A-T | c.53A>T | p.N18I | Missense | 2/18 | - | 1 |
| 5-96314881-T-A | c.59T>A | p.M20K | Missense | 2/18 | - | 1 |
| 5-96314882-G-C | c.60G>C | p.M20I | Missense | 2/18 | - | 1 |
| 5-96314884-T-G | c.62T>G | p.F21C | Missense | 2/18 | - | 1 |
| 5-96314888-G-C | c.66G>C | p.E22D | Missense | 2/18 | - | 1 |
| 5-96314888-G-T | c.66G>T | p.E22D | Missense | 2/18 | - | 1 |
| 5-96314889-G-A | c.67G>A | p.E23K | Missense | 2/18 | - | 1 |
| 5-96314889-G-C | c.67G>C | p.E23Q | Missense | 2/18 | - | 1 |
| 5-96314891-A-T | c.69A>T | p.E23D | Missense | 2/18 | - | 1 |
| 5-96314904-G-A | c.82G>A | p.V28M | Missense | 2/18 | - | 1 |
| 5-96314905-T-G | c.83T>G | p.V28G | Missense | 2/18 | - | 1 |
| 5-96314910-T-C | c.88T>C | p.L30= | Synonymous | 2/18 | - | 1 |
| 5-96314912-A-G | c.90A>G | p.L30= | Synonymous | 2/18 | - | 1 |
| 5-96314913-G-A | c.91G>A | p.A31T | Missense | 2/18 | - | 1 |
| 5-96314919-G-T | c.97G>T | p.E33* | Nonsense | 2/18 | - | 1 |
| 5-96314925-TG-GC | c.103_104delinsGC | p.C35A | Missense | 2/18 | - | 2 |
| 5-96314932-A-C | c.110A>C | p.H37P | Missense | 2/18 | - | 1 |
| 5-96314932-A-G | c.110A>G | p.H37R | Missense | 2/18 | - | 1 |
| 5-96314934-C-G | c.112C>G | p.P38A | Missense | 2/18 | - | 1 |
| 5-96314934-C-T | c.112C>T | p.P38S | Missense | 2/18 | - | 2 |
| 5-96314935-C-G | c.113C>G | p.P38R | Missense | 2/18 | - | 8 |
| 5-96314935-C-T | c.113C>T | p.P38L | Missense | 2/18 | - | 1 |
| 5-96314937-C-G | c.115C>G | p.L39V | Missense | 2/18 | - | 3 |
| 5-96314940-G-T | c.118G>T | p.E40* | Nonsense | 2/18 | - | 1 |
| 5-96314942-G-A | c.120G>A | p.E40= | Synonymous | 2/18 | - | 1 |
| 5-96314944-C-T | c.122C>T | p.P41L | Missense | 2/18 | - | 2 |
| 5-96314952-G-A | c.130G>A | p.V44M | Missense | 2/18 | - | 1 |
| 5-96314958-T-C | c.136T>C | p.Y46H | Missense | 2/18 | - | 2 |
| 5-96314959-A-T | c.137A>T | p.Y46F | Missense | 2/18 | - | 1 |
| 5-96314961-G-A | c.139G>A | p.E47K | Missense | 2/18 | - | 2 |
| 5-96314963-G-T | c.141G>T | p.E47D | Missense | 2/18 | - | 1 |
| 5-96314967-C-T | c.145C>T | p.R49W | Missense | 2/18 | - | 1 |
| 5-96314968-G-A | c.146G>A | p.R49Q | Missense | 2/18 | - | 1 |
| 5-96314970-G-A | c.148G>A | p.G50S | Missense | 2/18 | - | 2 |
| 5-96314972-T-C | c.150T>C | p.G50= | Synonymous | 2/18 | - | 2 |
| 5-96314974-C-T | c.152C>T | p.S51F | Missense | 2/18 | - | 1 |
| 5-96314977-G-T | c.155G>T | p.R52L | Missense | 2/18 | - | 3 |
| 5-96314979-C-T | c.157C>T | p.L53= | Synonymous | 2/18 | - | 1 |
| 5-96314982-GC-G | c.160del | p.L54Wfs*29 | Frameshift | 2/18 | - | 1 |
| 5-96314988-C-T | c.166C>T | p.R56W | Missense | 2/18 | - | 2 |
| 5-96314989-G-A | c.167G>A | p.R56Q | Missense | 2/18 | - | 1 |
| 5-96315001-A-T | c.179A>T | p.E60V | Missense | 2/18 | - | 1 |
| 5-96315005-T-A | c.183T>A | p.H61Q | Missense | 2/18 | - | 1 |
| 5-96315005-T-G | c.183T>G | p.H61Q | Missense | 2/18 | - | 1 |
| 5-96315008-G-T | c.186G>T | p.E62D | Missense | 2/18 | - | 1 |
| 5-96315009-A-G | c.187A>G | p.M63V | Missense | 2/18 | - | 2 |
| 5-96315010-T-C | c.188T>C | p.M63T | Missense | 2/18 | - | 2 |
| 5-96315011-G-A | c.189G>A | p.M63I | Missense | 2/18 | - | 1 |
| 5-96315021-G-C | c.199G>C | p.E67Q | Missense | 2/18 | - | 1 |
| 5-96315021-G-T | c.199G>T | p.E67* | Nonsense | 2/18 | - | 1 |
| 5-96315023-A-G | c.201A>G | p.E67= | Synonymous | 2/18 | - | 1 |
| 5-96315026-G-C | c.204G>C | p.E68D | Missense | 2/18 | - | 1 |
| 5-96315026-G-T | c.204G>T | p.E68D | Missense | 2/18 | - | 1 |
| 5-96315027-G-A | c.205G>A | p.D69N | Missense | 2/18 | - | 1 |
| 5-96315027-G-T | c.205G>T | p.D69Y | Missense | 2/18 | - | 1 |
| 5-96315035-G-A | c.213G>A | p.E71= | Synonymous | 2/18 | - | 1 |
| 5-96315033-GAGTCATCAGCAA-G | c.214_225del | p.S72_K75del | InFrameDeletion | 2/18 | - | 1 |
| 5-96315036-T-C | c.214T>C | p.S72P | Missense | 2/18 | - | 2 |
| 5-96315037-C-A | c.215C>A | p.S72* | Nonsense | 2/18 | - | 1 |
| 5-96315037-C-G | c.215C>G | p.S72* | Nonsense | 2/18 | - | 1 |
| 5-96315039-T-A | c.217T>A | p.S73T | Missense | 2/18 | - | 1 |
| 5-96315039-TCA-AAC | c.217_219delinsAAC | p.S73N | Missense | 2/18 | - | 1 |
| 5-96315041-A-C | c.219A>C | p.S73= | Synonymous | 2/18 | - | 1 |
| 5-96315041-A-G | c.219A>G | p.S73= | Synonymous | 2/18 | - | 2 |
| 5-96315041-A-T | c.219A>T | p.S73= | Synonymous | 2/18 | - | 2 |
| 5-96315043-C-T | c.221C>T | p.A74V | Missense | 2/18 | - | 1 |
| 5-96315047-G-A | c.225G>A | p.K75= | Synonymous | 2/18 | - | 1 |
| 5-96315047-G-C | c.225G>C | p.K75N | Missense | 2/18 | - | 1 |
| 5-96315047-G-T | c.225G>T | p.K75N | Missense | 2/18 | - | 1 |
| 5-96315052-CT-C | c.230del | p.L77Rfs*6 | Frameshift | 2/18 | - | 1 |
| 5-96315052-T-G | c.230T>G | p.L77R | Missense | 2/18 | - | 1 |
| 5-96315051-C-T | c.229C>T | p.L77= | Synonymous | 2/18 | - | 1 |
| 5-96315053-G-A | c.231G>A | p.L77= | Synonymous | 2/18 | - | 1 |
| 5-96315053-G-C | c.231G>C | p.L77= | Synonymous | 2/18 | - | 1 |
| 5-96315053-G-T | c.231G>T | p.L77= | Synonymous | 2/18 | - | 1 |
| 5-96315054-G-C | c.232G>C | p.G78R | Missense | 2/18 | - | 1 |
| 5-96315055-G-A | c.233G>A | p.G78D | Missense | 2/18 | - | 2 |
| 5-96315057-A-G | c.235A>G | p.M79V | Missense | 2/18 | - | 1 |
| 5-96315059-G-A | c.237G>A | p.M79I | Missense | 2/18 | - | 1 |
| 5-96315059-G-T | c.237G>T | p.M79I | Missense | 2/18 | - | 1 |
| 5-96315061-C-G | c.239C>G | p.S80C | Missense | 2/18 | - | 1 |
| 5-96315062-C-A | c.240C>A | p.S80= | Synonymous | 2/18 | - | 1 |
| 5-96315062-C-G | c.240C>G | p.S80= | Synonymous | 2/18 | - | 2 |
| 5-96315062-C-T | c.240C>T | p.S80= | Synonymous | 2/18 | - | 1 |
| 5-96315073-G-C | c.251G>C | p.R84T | Missense | 2/18 | - | 2 |
| 5-96315076-G-T | c.254G>T | p.S85I | Missense | 2/18 | - | 1 |
| 5-96315078-T-C | c.256T>C | p.S86P | Missense | 2/18 | - | 4 |
| 5-96315079-C-A | c.257C>A | p.S86* | Nonsense | 2/18 | - | 1 |
| 5-96315079-C-G | c.257C>G | p.S86* | Nonsense | 2/18 | - | 1 |
| 5-96315082-GC-AG | c.260_261delinsAG | p.G87E | Missense | 2/18 | - | 1 |
| 5-96315087-C-T | c.265C>T | p.R89W | Missense | 2/18 | - | 3 |
| 5-96315088-G-A | c.266G>A | p.R89Q | Missense | 2/18 | - | 5 |
| 5-96315095-T-C | c.273T>C | p.S91= | Synonymous | 2/18 | - | 1 |
| 5-96315098-A-C | c.276A>C | p.A92= | Synonymous | 2/18 | - | 1 |
| 5-96315098-A-G | c.276A>G | p.A92= | Synonymous | 2/18 | - | 1 |
| 5-96315098-A-T | c.276A>T | p.A92= | Synonymous | 2/18 | - | 1 |
| 5-96315099-A-G | c.277A>G | p.T93A | Missense | 2/18 | - | 4 |
| 5-96315106-A-G | c.284A>G | p.Y95C | Missense | 2/18 | - | 1 |
| 5-96315108-AG-CA | c.286_287delinsCA | p.R96Q | Missense | 2/18 | - | 1 |
| 5-96315108-AG-CC | c.286_287delinsCC | p.R96P | Missense | 2/18 | - | 1 |
| 5-96315112-A-G | c.290A>G | p.Q97R | Missense | 2/18 | - | 1 |
| 5-96315116-C-T | c.294C>T | p.S98= | Synonymous | 2/18 | - | 1 |
| 5-96315118-C-T | c.296C>T | p.P99L | Missense | 2/18 | - | 1 |
| 5-96315121-A-C | c.299A>C | p.D100A | Missense | 2/18 | - | 1 |
| 5-96315121-A-G | c.299A>G | p.D100G | Missense | 2/18 | - | 1 |
| 5-96315121-A-T | c.299A>T | p.D100V | Missense | 2/18 | - | 1 |
| 5-96315124-G-A | c.302G>A | p.G101E | Missense | 2/18 | - | 1 |
| 5-96315135-G-A | c.313G>A | p.V105I | Missense | 2/18 | - | 1 |
| 5-96315139-C-G | c.317C>G | p.P106R | Missense | 2/18 | - | 2 |
| 5-96315139-C-T | c.317C>T | p.P106L | Missense | 2/18 | - | 2 |
| 5-96315143-T-A | c.321T>A | p.S107= | Synonymous | 2/18 | - | 1 |
| 5-96315143-T-C | c.321T>C | p.S107= | Synonymous | 2/18 | - | 1 |
| 5-96315143-T-G | c.321T>G | p.S107= | Synonymous | 2/18 | - | 1 |
| 5-96315147-AG-CA | c.325_326delinsCA | p.R109Q | Missense | 2/18 | - | 2 |
| 5-96315148-G-A | c.326G>A | p.R109K | Missense | 2/18 | - | 1 |
| 5-96315153-A-G | c.331A>G | p.M111V | Missense | 2/18 | - | 1 |
| 5-96315157-T-A | c.335T>A | p.V112E | Missense | 2/18 | - | 1 |
| 5-96315161-C-T | c.339C>T | p.V113= | Synonymous | 2/18 | - | 1 |
| 5-96315163-G-A | c.341G>A | p.C114Y | Missense | 2/18 | - | 1 |
| 5-96315176-C-A | c.354C>A | p.I118= | Synonymous | 2/18 | - | 2 |
| 5-96315176-C-T | c.354C>T | p.I118= | Synonymous | 2/18 | - | 2 |
| 5-96315177-G-A | c.355G>A | p.V119M | Missense | 2/18 | - | 2 |
| 5-96315181-T-G | c.359T>G | p.V120G | Missense | 2/18 | - | 1 |
| 5-96315185-T-C | c.363T>C | p.A121= | Synonymous | 2/18 | - | 1 |
| 5-96315188-T-C | c.366T>C | p.V122= | Synonymous | 2/18 | - | 1 |
| 5-96315189-T-A | c.367T>A | p.S123T | Missense | 2/18 | - | 1 |
| 5-96315197-C-T | c.375C>T | p.I125= | Synonymous | 2/18 | - | 1 |
| 5-96315198-A-G | c.376A>G | p.M126V | Missense | 2/18 | - | 1 |
| 5-96315201-G-A | c.379G>A | p.V127M | Missense | 2/18 | - | 1 |
| 5-96315201-G-C | c.379G>C | p.V127L | Missense | 2/18 | - | 1 |
| 5-96315201-G-T | c.379G>T | p.V127L | Missense | 2/18 | - | 1 |
| 5-96315204-A-G | c.382A>G | p.I128V | Missense | 2/18 | - | 1 |
| 5-96315206-T-TA | c.384_385insA | p.Y129Ifs*15 | Frameshift | 2/18 | - | 1 |
| 5-96315213-C-T | c.391C>T | p.L131= | Synonymous | 2/18 | - | 1 |
| 5-96315215-G-A | c.393G>A | p.L131= | Synonymous | 2/18 | - | 2 |
| 5-96315215-G-C | c.393G>C | p.L131= | Synonymous | 2/18 | - | 1 |
| 5-96315215-G-T | c.393G>T | p.L131= | Synonymous | 2/18 | - | 1 |
| 5-96315222-T-A | c.400T>A | p.C134S | Missense | 2/18 | - | 2 |
| 5-96315223-G-C | c.401G>C | p.C134S | Missense | 2/18 | - | 2 |
| 5-96315223-G-T | c.401G>T | p.C134F | Missense | 2/18 | - | 1 |
| 5-96315224-T-C | c.402T>C | p.C134= | Synonymous | 2/18 | - | 1 |
| 5-96315230-T-C | c.408T>C | p.F136= | Synonymous | 2/18 | - | 1 |
| 5-96315232-C-A | c.410C>A | p.T137N | Missense | 2/18 | - | 1 |
| 5-96315235-A-G | c.413A>G | p.K138R | Missense | 2/18 | - | 1 |
| 5-96315238-A-G | c.416A>G | p.E139G | Missense | 2/18 | - | 1 |
| 5-96315241-G-C | c.419G>C | p.G140A | Missense | 2/18 | - | 1 |
| 5-96315241-G-T | c.419G>T | p.G140V | Missense | 2/18 | - | 1 |
| 5-96315242-C-A | c.420C>A | p.G140= | Synonymous | 2/18 | - | 2 |
| 5-96315242-C-G | c.420C>G | p.G140= | Synonymous | 2/18 | - | 1 |
| 5-96315242-C-T | c.420C>T | p.G140= | Synonymous | 2/18 | - | 1 |
| 5-96315245-C-T | c.423C>T | p.C141= | Synonymous | 2/18 | - | 3 |
| 5-96315247-A-AT | c.426dup | p.K143* | Nonsense | 2/18 | - | 1 |
| 5-96315248-T-C | c.426T>C | p.H142= | Synonymous | 2/18 | - | 1 |
| 5-96315254-A-AT | c.432_433insT | p.N145* | Nonsense | 2/18 | - | 1 |
| 5-96315248-TA-T | c.434del | p.N145Tfs*6 | Frameshift | 2/18 | - | 7 |
| 5-96315248-T-TA | c.434dup | p.N145Kfs*34 | Frameshift | 2/18 | - | 3 |
| 5-96315256-A-C | c.434A>C | p.N145T | Missense | 2/18 | - | 5 |
| 5-96315257-C-A | c.435C>A | p.N145K | Missense | 2/18 | - | 4 |
| 5-96315257-C-G | c.435C>G | p.N145K | Missense | 2/18 | - | 3 |
| 5-96315259-A-G | c.437A>G | p.Q146R | Missense | 2/18 | - | 1 |
| 5-96315259-A-T | c.437A>T | p.Q146L | Missense | 2/18 | - | 1 |
| 5-96315262-C-A | c.440C>A | p.S147* | Nonsense | 2/18 | - | 1 |
| 5-96315262-C-G | c.440C>G | p.S147* | Nonsense | 2/18 | - | 1 |
| 5-96315279-C-G | c.457C>G | p.P153A | Missense | 2/18 | - | 1 |
| 5-96315279-C-T | c.457C>T | p.P153S | Missense | 2/18 | - | 1 |
| 5-96315282-TT-GC | c.460_461delinsGC | p.F154A | Missense | 2/18 | - | 1 |
| 5-96315284-T-C | c.462T>C | p.F154= | Synonymous | 2/18 | - | 1 |
| 5-96315286-C-G | c.464C>G | p.A155G | Missense | 2/18 | - | 1 |
| 5-96315286-C-T | c.464C>T | p.A155V | Missense | 2/18 | - | 2 |
| 5-96315297-A-T | c.475A>T | p.K159* | Nonsense | 2/18 | - | 1 |
| 5-96315306-C-T | c.484C>T | p.P162S | Missense | 2/18 | - | 7 |
| 5-96315308-A-T | c.486A>T | p.P162= | Synonymous | 2/18 | - | 2 |
| 5-96315312-G-A | c.490G>A | p.A164T | Missense | 2/18 | - | 2 |
| 5-96315312-G-T | c.490G>T | p.A164S | Missense | 2/18 | - | 1 |
| 5-96315316-A-T | c.494A>T | p.Q165L | Missense | 2/18 | - | 1 |
| 5-96315320-C-G | c.498C>G | p.I166M | Missense | 2/18 | - | 11 |
| 5-96315321-AG-CA | c.499_500delinsCA | p.R167Q | Missense | 2/18 | - | 1 |
| 5-96315321-A-T | c.499A>T | p.R167W | Missense | 2/18 | - | 1 |
| 5-96315322-G-T | c.500G>T | p.R167M | Missense | 2/18 | - | 1 |
| 5-96315327-CC-TT | c.505_506delinsTT | p.P169F | Missense | 2/18 | - | 1 |
| 5-96315327-C-T | c.505C>T | p.P169S | Missense | 2/18 | - | 2 |
| 5-96315328-C-T | c.506C>T | p.P169L | Missense | 2/18 | - | 3 |
| 5-96315329-C-A | c.507C>A | p.P169= | Synonymous | 2/18 | - | 2 |
| 5-96315329-C-G | c.507C>G | p.P169= | Synonymous | 2/18 | - | 2 |
| 5-96315329-C-T | c.507C>T | p.P169= | Synonymous | 2/18 | - | 2 |
| 5-96315330-A-G | c.508A>G | p.T170A | Missense | 2/18 | - | 1 |
| 5-96315335-C-A | c.513C>A | p.A171= | Synonymous | 2/18 | - | 1 |
| 5-96315335-C-G | c.513C>G | p.A171= | Synonymous | 2/18 | - | 1 |
| 5-96315335-C-T | c.513C>T | p.A171= | Synonymous | 2/18 | - | 2 |
| 5-96315336-G-A | c.514G>A | p.V172I | Missense | 2/18 | - | 2 |
| 5-96315341-G-A | c.519G>A | p.V173= | Synonymous | 2/18 | - | 2 |
| 5-96315341-G-C | c.519G>C | p.V173= | Synonymous | 2/18 | - | 1 |
| 5-96315341-G-T | c.519G>T | p.V173= | Synonymous | 2/18 | - | 1 |
| 5-96315342-C-T | c.520C>T | p.P174S | Missense | 2/18 | - | 2 |
| 5-96315343-C-A | c.521C>A | p.P174Q | Missense | 2/18 | - | 1 |
| 5-96315345-C-G | c.523C>G | p.L175V | Missense | 2/18 | - | 1 |
| 5-96315348-C-T | c.526C>T | p.R176C | Missense | 2/18 | - | 2 |
| 5-96315349-G-A | c.527G>A | p.R176H | Missense | 2/18 | - | 1 |
| 5-96315349-GC-AA | c.527_528delinsAA | p.R176Q | Missense | 2/18 | - | 1 |
| 5-96315350-C-A | c.528C>A | p.R176= | Synonymous | 2/18 | - | 1 |
| 5-96315357-C-T | c.535C>T | p.L179F | Missense | 2/18 | - | 1 |
| 5-96315360-AG-GC | c.538_539delinsGC | p.S180A | Missense | 2/18 | - | 1 |
| 5-96315361-G-C | c.539G>C | p.S180T | Missense | 2/18 | - | 1 |
| 5-96315361-G-T | c.539G>T | p.S180I | Missense | 2/18 | - | 1 |
| 5-96315362-C-T | c.540C>T | p.S180= | Synonymous | 2/18 | - | 4 |
| 5-96315363-C-T | c.541C>T | p.L181= | Synonymous | 2/18 | - | 1 |
| 5-96315367-A-G | c.545A>G | p.H182R | Missense | 2/18 | - | 1 |
| 5-96315370-C-T | c.548C>T | p.P183L | Missense | 2/18 | - | 1 |
| 5-96315371-G-A | c.549G>A | p.P183= | Synonymous | 2/18 | - | 3 |
| 5-96315371-G-C | c.549G>C | p.P183= | Synonymous | 2/18 | - | 2 |
| 5-96315371-G-T | c.549G>T | p.P183= | Synonymous | 2/18 | - | 2 |
| 5-96315383-G-A | c.561G>A | p.S187= | Synonymous | 2/18 | - | 1 |
| 5-96315383-G-C | c.561G>C | p.S187= | Synonymous | 2/18 | - | 1 |
| 5-96315388-C-T | c.566C>T | p.T189I | Missense | 2/18 | - | 1 |
| 5-96315394-G-A | c.572G>A | p.R191K | Missense | 2/18 | - | 1 |
| 5-96315395-G-A | c.573G>A | p.R191= | Synonymous | 2/18 | - | 1 |
| 5-96315396-G-A | c.574G>A | p.G192S | Missense | 2/18 | - | 1 |
| 5-96315397-G-A | c.575G>A | p.G192D | Missense | 2/18 | - | 1 |
| 5-96315397-G-C | c.575G>C | p.G192A | Missense | 2/18 | - | 1 |
| 5-96315400-C-A | c.578C>A | p.S193Y | Missense | 2/18 | - | 1 |
| 5-96315402-G-A | c.580G>A | p.V194M | Missense | 2/18 | - | 2 |
| 5-96315414-G-A | c.592G>A | p.V198I | Missense | 2/18 | - | 1 |
| 5-96315417-C-G | c.595C>G | p.Q199E | Missense | 2/18 | - | 1 |
| 5-96315417-C-T | c.595C>T | p.Q199* | Nonsense | 2/18 | - | 1 |
| 5-96315427-A-G | c.605A>G | p.Q202R | Missense | 2/18 | - | 1 |
| 5-96315436-G-A | c.614G>A | p.W205* | Nonsense | 2/18 | - | 1 |
| 5-96315437-G-A | c.615G>A | p.W205* | Nonsense | 2/18 | - | 1 |
| 5-96315439-A-C | c.617A>C | p.N206T | Missense | 2/18 | - | 2 |
| 5-96315439-A-G | c.617A>G | p.N206S | Missense | 2/18 | - | 1 |
| 5-96315443-C-A | c.621C>A | p.I207= | Synonymous | 2/18 | - | 2 |
| 5-96315443-C-T | c.621C>T | p.I207= | Synonymous | 2/18 | - | 3 |
| 5-96315444-A-G | c.622A>G | p.I208V | Missense | 2/18 | - | 1 |
| 5-96315449-T-A | c.627T>A | p.L209= | Synonymous | 2/18 | - | 1 |
| 5-96315449-T-C | c.627T>C | p.L209= | Synonymous | 2/18 | - | 1 |
| 5-96315449-T-G | c.627T>G | p.L209= | Synonymous | 2/18 | - | 1 |
| 5-96315453-A-C | c.631A>C | p.S211R | Missense | 2/18 | - | 1 |
| 5-96315455-C-A | c.633C>A | p.S211R | Missense | 2/18 | - | 1 |
| 5-96315455-C-G | c.633C>G | p.S211R | Missense | 2/18 | - | 1 |
| 5-96315464-T-C | c.642T>C | p.H214= | Synonymous | 2/18 | - | 1 |
| 5-96315466-A-T | c.644A>T | p.N215I | Missense | 2/18 | - | 1 |
| 5-96315469-T-C | c.647T>C | p.I216T | Missense | 2/18 | - | 1 |
| 5-96315473-A-T | c.651A>T | p.S217= | Synonymous | 2/18 | - | 1 |
| 5-96315474-A-G | c.652A>G | p.R218G | Missense | 2/18 | - | 1 |
| 5-96315474-A-C | c.652A>C | p.R218= | Synonymous | 2/18 | - | 2 |
| 5-96315476-A-G | c.654A>G | p.R218= | Synonymous | 2/18 | - | 2 |
| 5-96315495-G-A | c.673G>A | p.V225I | Missense | 2/18 | - | 2 |
| 5-96315499-C-A | c.677C>A | p.S226* | Nonsense | 2/18 | - | 1 |
| 5-96315499-C-G | c.677C>G | p.S226* | Nonsense | 2/18 | - | 1 |
| 5-96315499-C-T | c.677C>T | p.S226L | Missense | 2/18 | - | 4 |
| 5-96315502-G-A | c.680G>A | p.S227N | Missense | 2/18 | - | 1 |
| 5-96315502-G-T | c.680G>T | p.S227I | Missense | 2/18 | - | 1 |
| 5-96315503-C-T | c.681C>T | p.S227= | Synonymous | 2/18 | - | 2 |
| 5-96315504-C-T | c.682C>T | p.Q228* | Nonsense | 2/18 | - | 3 |
| 5-96315507-G-C | c.685G>C | p.E229Q | Missense | 2/18 | - | 1 |
| 5-96315507-G-T | c.685G>T | p.E229* | Nonsense | 2/18 | - | 1 |
| 5-96315508-A-G | c.686A>G | p.E229G | Missense | 2/18 | - | 1 |
| 5-96315518-T-A | c.696T>A | p.A232= | Synonymous | 2/18 | - | 1 |
| 5-96315518-T-C | c.696T>C | p.A232= | Synonymous | 2/18 | - | 2 |
| 5-96315518-T-G | c.696T>G | p.A232= | Synonymous | 2/18 | - | 1 |
| 5-96315520-A-G | c.698A>G | p.E233G | Missense | 2/18 | - | 1 |
| 5-96315521-G-A | c.699G>A | p.E233= | Synonymous | 2/18 | - | 1 |
| 5-96315528-G-C | c.706G>C | p.E236Q | Missense | 2/18 | - | 1 |
| 5-96315534-G-A | c.712G>A | p.A238T | Missense | 2/18 | - | 2 |
| 5-96315544-G-T | c.722G>T | p.G241V | Missense | 2/18 | - | 1 |
| 5-96315551-C-T | c.729C>T | p.I243= | Synonymous | 2/18 | - | 4 |
| 5-96315554-C-T | c.732C>T | p.A244= | Synonymous | 2/18 | - | 2 |
| 5-96315556-T-G | c.734T>G | p.I245S | Missense | 2/18 | - | 1 |
| 5-96315558-GT-G | c.738del | p.A247Pfs*6 | Frameshift | 2/18 | - | 1 |
| 5-96315561-G-A | c.739G>A | p.A247T | Missense | 2/18 | - | 1 |
| 5-96315563-C-A | c.741C>A | p.A247= | Synonymous | 2/18 | - | 1 |
| 5-96315563-C-G | c.741C>G | p.A247= | Synonymous | 2/18 | - | 1 |
| 5-96315563-C-T | c.741C>T | p.A247= | Synonymous | 2/18 | - | 1 |
| 5-96315565-C-T | c.743C>T | p.P248L | Missense | 2/18 | - | 1 |
| 5-96315567-G-A | c.745G>A | p.E249K | Missense | 2/18 | - | 1 |
| 5-96315568-A-G | c.746A>G | p.E249G | Missense | 2/18 | - | 1 |
| 5-96315571-C-T | c.749C>T | p.A250V | Missense | 2/18 | - | 2 |
| 5-96315573-C-T | c.751C>T | p.L251F | Missense | 2/18 | - | 4 |
| 5-96315574-T-C | c.752T>C | p.L251P | Missense | 2/18 | - | 1 |
| 5-96315579-G-A | c.757G>A | p.A253T | Missense | 2/18 | - | 2 |
| 5-96315580-C-T | c.758C>T | p.A253V | Missense | 2/18 | - | 1 |
| 5-96315581-A-G | c.759A>G | p.A253= | Synonymous | 2/18 | - | 1 |
| 5-96315584-G-A | c.762G>A | p.G254= | Synonymous | 2/18 | - | 1 |
| 5-96315591-T-TA | c.770dup | p.Y257* | Nonsense | 2/18 | - | 1 |
| 5-96315594-TA-T | c.772del | p.T258Rfs*2 | Frameshift | 2/18 | - | 1 |
| 5-96315595-C-T | c.773C>T | p.T258M | Missense | 2/18 | - | 3 |
| 5-96315606-G-A | c.784G>A | p.E262K | Missense | 2/18 | - | 1 |
| 5-96315609-T-C | c.787T>C | p.Y263H | Missense | 2/18 | - | 1 |
| 5-96315613-C-T | c.791C>T | p.S264L | Missense | 2/18 | - | 2 |
| 5-96315614-G-A | c.792G>A | p.S264= | Synonymous | 2/18 | - | 1 |
| 5-96315615-G-A | c.793G>A | p.A265T | Missense | 2/18 | - | 1 |
| 5-96315615-G-T | c.793G>T | p.A265S | Missense | 2/18 | - | 1 |
| 5-96315616-C-T | c.794C>T | p.A265V | Missense | 2/18 | - | 1 |
| 5-96315618-A-G | c.796A>G | p.N266D | Missense | 2/18 | - | 1 |
| 5-96315619-A-G | c.797A>G | p.N266S | Missense | 2/18 | - | 1 |
| 5-96315623-A-G | c.801A>G | p.I267M | Missense | 2/18 | - | 2 |
| 5-96315627-A-G | c.805A>G | p.S269G | Missense | 2/18 | - | 1 |
| 5-96315631-C-A | c.809C>A | p.S270Y | Missense | 2/18 | - | 2 |
| 5-96315634-A-G | c.812A>G | p.Y271C | Missense | 2/18 | - | 1 |
| 5-96315639-G-T | c.817G>T | p.G273W | Missense | 2/18 | - | 1 |
| 5-96315646-A-G | c.824A>G | p.Y275C | Missense | 2/18 | - | 2 |
| 5-96315647-T-C | c.825T>C | p.Y275= | Synonymous | 2/18 | - | 1 |
| 5-96315648-G-C | c.826G>C | p.G276R | Missense | 2/18 | - | 1 |
| 5-96315649-G-C | c.827G>C | p.G276A | Missense | 2/18 | - | 1 |
| 5-96315650-C-A | c.828C>A | p.G276= | Synonymous | 2/18 | - | 1 |
| 5-96315650-C-G | c.828C>G | p.G276= | Synonymous | 2/18 | - | 1 |
| 5-96315650-C-T | c.828C>T | p.G276= | Synonymous | 2/18 | - | 1 |
| 5-96315653-C-T | c.831C>T | p.F277= | Synonymous | 2/18 | - | 3 |
| 5-96315661-C-T | c.839C>T | p.T280I | Missense | 2/18 | - | 2 |
| 5-96315664-A-G | c.842A>G | p.D281G | Missense | 2/18 | - | 1 |
| 5-96315677-G-GT | c.855_856insT | p.K286* | Nonsense | 2/18 | - | 1 |
| 5-96315691-C-T | c.860+9C>T | - | IntronicSNV | - | 2/17 | 1 |
| 5-96315773-AT-A | c.860+102del | - | IntronicDeletion | - | 2/17 | 1 |
| 5-96316758-C-T | c.860+1076C>T | - | IntronicSNV | - | 2/17 | 2 |
| 5-96316942-CA-C | c.860+1267del | - | IntronicDeletion | - | 2/17 | 1 |
| 5-96318145-G-A | c.860+2463G>A | - | IntronicSNV | - | 2/17 | 2 |
| 5-96319491-T-C | c.861-1293T>C | - | IntronicSNV | - | 2/17 | 1 |
| 5-96319607-T-G | c.861-1177T>G | - | IntronicSNV | - | 2/17 | 2 |
| 5-96319930-A-C | c.861-854A>C | - | IntronicSNV | - | 2/17 | 2 |
| 5-96320411-G-A | c.861-373G>A | - | IntronicSNV | - | 2/17 | 2 |
| 5-96320495-C-T | c.861-289C>T | - | IntronicSNV | - | 2/17 | 21 |
| 5-96320586-T-C | c.861-198T>C | - | IntronicSNV | - | 2/17 | 3 |
| 5-96320642-T-C | c.861-142T>C | - | IntronicSNV | - | 2/17 | 2 |
| 5-96320786-A-C | c.863A>C | p.Y288S | Missense | 3/18 | - | 1 |
| 5-96320787-C-T | c.864C>T | p.Y288= | Synonymous | 3/18 | - | 2 |
| 5-96320792-C-A | c.869C>A | p.A290E | Missense | 3/18 | - | 1 |
| 5-96320793-A-C | c.870A>C | p.A290= | Synonymous | 3/18 | - | 1 |
| 5-96320793-A-G | c.870A>G | p.A290= | Synonymous | 3/18 | - | 1 |
| 5-96320793-A-T | c.870A>T | p.A290= | Synonymous | 3/18 | - | 1 |
| 5-96320795-C-T | c.872C>T | p.A291V | Missense | 3/18 | - | 2 |
| 5-96320798-C-T | c.875C>T | p.T292I | Missense | 3/18 | - | 1 |
| 5-96320801-A-C | c.878A>C | p.Q293P | Missense | 3/18 | - | 1 |
| 5-96320802-G-C | c.879G>C | p.Q293H | Missense | 3/18 | - | 1 |
| 5-96320802-G-T | c.879G>T | p.Q293H | Missense | 3/18 | - | 1 |
| 5-96320804-T-C | c.881T>C | p.F294S | Missense | 3/18 | - | 1 |
| 5-96320808-A-C | c.885A>C | p.E295D | Missense | 3/18 | - | 1 |
| 5-96320808-A-T | c.885A>T | p.E295D | Missense | 3/18 | - | 1 |
| 5-96320811-C-T | c.888C>T | p.P296= | Synonymous | 3/18 | - | 1 |
| 5-96320812-C-G | c.889C>G | p.L297V | Missense | 3/18 | - | 1 |
| 5-96320813-T-C | c.890T>C | p.L297P | Missense | 3/18 | - | 1 |
| 5-96320814-G-T | c.891G>T | p.L297= | Synonymous | 3/18 | - | 1 |
| 5-96320815-G-A | c.892G>A | p.A298T | Missense | 3/18 | - | 1 |
| 5-96320821-A-G | c.898A>G | p.R300G | Missense | 3/18 | - | 2 |
| 5-96320821-AGA-CAT | c.898_900delinsCAT | p.R300H | Missense | 3/18 | - | 1 |
| 5-96320822-G-A | c.899G>A | p.R300K | Missense | 3/18 | - | 1 |
| 5-96320824-TC-GG | c.901_902delinsGG | p.S301G | Missense | 3/18 | - | 1 |
| 5-96320825-C-G | c.902C>G | p.S301C | Missense | 3/18 | - | 2 |
| 5-96320833-C-T | c.910C>T | p.P304S | Missense | 3/18 | - | 3 |
| 5-96320834-C-T | c.911C>T | p.P304L | Missense | 3/18 | - | 1 |
| 5-96320838-T-C | c.915T>C | p.C305= | Synonymous | 3/18 | - | 1 |
| 5-96320839-T-C | c.916T>C | p.F306L | Missense | 3/18 | - | 1 |
| 5-96320841-T-A | c.918T>A | p.F306L | Missense | 3/18 | - | 1 |
| 5-96320841-T-G | c.918T>G | p.F306L | Missense | 3/18 | - | 1 |
| 5-96320841-T-C | c.918T>C | p.F306= | Synonymous | 3/18 | - | 1 |
| 5-96320842-G-A | c.919G>A | p.D307N | Missense | 3/18 | - | 1 |
| 5-96320843-A-G | c.920A>G | p.D307G | Missense | 3/18 | - | 1 |
| 5-96320846-A-G | c.923A>G | p.E308G | Missense | 3/18 | - | 1 |
| 5-96320848-C-T | c.925C>T | p.P309S | Missense | 3/18 | - | 1 |
| 5-96320855-T-G | c.932T>G | p.F311C | Missense | 3/18 | - | 1 |
| 5-96320856-T-TA | c.936dup | p.A313Sfs*11 | Frameshift | 3/18 | - | 1 |
| 5-96320860-G-A | c.937G>A | p.A313T | Missense | 3/18 | - | 1 |
| 5-96320874-C-A | c.951C>A | p.I317= | Synonymous | 3/18 | - | 1 |
| 5-96320874-C-T | c.951C>T | p.I317= | Synonymous | 3/18 | - | 1 |
| 5-96320875-A-C | c.952A>C | p.K318Q | Missense | 3/18 | - | 2 |
| 5-96320876-A-G | c.953A>G | p.K318R | Missense | 3/18 | - | 1 |
| 5-96320877-G-C | c.954G>C | p.K318N | Missense | 3/18 | - | 1 |
| 5-96320877-G-T | c.954G>T | p.K318N | Missense | 3/18 | - | 1 |
| 5-96320878-A-G | c.955A>G | p.I319V | Missense | 3/18 | - | 1 |
| 5-96320880-C-CAA | c.958_959insAA | p.I320Kfs*2 | Frameshift | 3/18 | - | 1 |
| 5-96320881-A-G | c.958A>G | p.I320V | Missense | 3/18 | - | 1 |
| 5-96320883-A-G | c.960A>G | p.I320M | Missense | 3/18 | - | 1 |
| 5-96320885-G-T | c.962G>T | p.R321M | Missense | 3/18 | - | 1 |
| 5-96320886-G-A | c.963G>A | p.R321= | Synonymous | 3/18 | - | 1 |
| 5-96320896-T-C | c.973T>C | p.Y325H | Missense | 3/18 | - | 1 |
| 5-96320900-C-T | c.977C>T | p.T326I | Missense | 3/18 | - | 8 |
| 5-96320901-C-T | c.978C>T | p.T326= | Synonymous | 3/18 | - | 2 |
| 5-96320902-G-A | c.979G>A | p.A327T | Missense | 3/18 | - | 1 |
| 5-96320903-C-A | c.980C>A | p.A327D | Missense | 3/18 | - | 1 |
| 5-96320904-T-C | c.981T>C | p.A327= | Synonymous | 3/18 | - | 1 |
| 5-96320907-A-C | c.984A>C | p.L328F | Missense | 3/18 | - | 1 |
| 5-96320907-A-T | c.984A>T | p.L328F | Missense | 3/18 | - | 1 |
| 5-96320909-C-G | c.986C>G | p.S329* | Nonsense | 3/18 | - | 2 |
| 5-96320912-A-G | c.989A>G | p.N330S | Missense | 3/18 | - | 1 |
| 5-96320917-C-T | c.994C>T | p.P332S | Missense | 3/18 | - | 1 |
| 5-96320922-G-GAA | c.999_999+1insAA | p.S336Hfs*5 | SpliceDonorInsertion | - | - | 1 |
| 5-96320993-T-C | c.999+71T>C | - | IntronicSNV | - | 3/17 | 2 |
| 5-96321887-T-C | c.1000-356T>C | - | IntronicSNV | - | 3/17 | 1 |
| 5-96322136-A-G | c.1000-107A>G | - | IntronicSNV | - | 3/17 | 4 |
| 5-96322244-A-C | c.1001A>C | p.K334T | Missense | 4/18 | - | 1 |
| 5-96322244-A-G | c.1001A>G | p.K334R | Missense | 4/18 | - | 1 |
| 5-96322246-T-C | c.1003T>C | p.S335P | Missense | 4/18 | - | 2 |
| 5-96322254-C-A | c.1011C>A | p.V337= | Synonymous | 4/18 | - | 1 |
| 5-96322254-C-G | c.1011C>G | p.V337= | Synonymous | 4/18 | - | 1 |
| 5-96322254-C-T | c.1011C>T | p.V337= | Synonymous | 4/18 | - | 2 |
| 5-96322255-G-A | c.1012G>A | p.V338I | Missense | 4/18 | - | 1 |
| 5-96322256-T-C | c.1013T>C | p.V338A | Missense | 4/18 | - | 1 |
| 5-96322261-G-A | c.1018G>A | p.D340N | Missense | 4/18 | - | 1 |
| 5-96322276-C-T | c.1033C>T | p.Q345* | Nonsense | 4/18 | - | 1 |
| 5-96322277-A-G | c.1034A>G | p.Q345R | Missense | 4/18 | - | 1 |
| 5-96322278-G-A | c.1035G>A | p.Q345= | Synonymous | 4/18 | - | 1 |
| 5-96322286-T-C | c.1043T>C | p.F348S | Missense | 4/18 | - | 1 |
| 5-96322289-C-A | c.1046C>A | p.S349Y | Missense | 4/18 | - | 1 |
| 5-96322289-C-T | c.1046C>T | p.S349F | Missense | 4/18 | - | 2 |
| 5-96322292-A-G | c.1049A>G | p.E350G | Missense | 4/18 | - | 2 |
| 5-96322302-G-C | c.1059G>C | p.K353N | Missense | 4/18 | - | 1 |
| 5-96322304-T-C | c.1061T>C | p.M354T | Missense | 4/18 | - | 1 |
| 5-96322307-G-A | c.1064G>A | p.S355N | Missense | 4/18 | - | 3 |
| 5-96322312-T-A | c.1069T>A | p.Y357N | Missense | 4/18 | - | 1 |
| 5-96322318-G-A | c.1075G>A | p.V359I | Missense | 4/18 | - | 8 |
| 5-96322320-T-A | c.1077T>A | p.V359= | Synonymous | 4/18 | - | 1 |
| 5-96322320-T-C | c.1077T>C | p.V359= | Synonymous | 4/18 | - | 1 |
| 5-96322320-T-G | c.1077T>G | p.V359= | Synonymous | 4/18 | - | 1 |
| 5-96322322-C-G | c.1079C>G | p.A360G | Missense | 4/18 | - | 1 |
| 5-96322324-T-C | c.1081T>C | p.F361L | Missense | 4/18 | - | 1 |
| 5-96322326-C-A | c.1083C>A | p.F361L | Missense | 4/18 | - | 1 |
| 5-96322326-C-G | c.1083C>G | p.F361L | Missense | 4/18 | - | 1 |
| 5-96322339-A-G | c.1096A>G | p.M366V | Missense | 4/18 | - | 1 |
| 5-96322344-G-C | c.1101G>C | p.K367N | Missense | 4/18 | - | 1 |
| 5-96322348-C-T | c.1105C>T | p.L369= | Synonymous | 4/18 | - | 3 |
| 5-96322349-T-C | c.1106T>C | p.L369P | Missense | 4/18 | - | 2 |
| 5-96322350-G-A | c.1107G>A | p.L369= | Synonymous | 4/18 | - | 2 |
| 5-96322350-G-C | c.1107G>C | p.L369= | Synonymous | 4/18 | - | 2 |
| 5-96322350-G-T | c.1107G>T | p.L369= | Synonymous | 4/18 | - | 2 |
| 5-96322354-C-T | c.1111C>T | p.Q371* | Nonsense | 4/18 | - | 5 |
| 5-96322357-G-C | c.1114G>C | p.D372H | Missense | 4/18 | - | 1 |
| 5-96322358-A-G | c.1115A>G | p.D372G | Missense | 4/18 | - | 1 |
| 5-96322359-C-T | c.1116C>T | p.D372= | Synonymous | 4/18 | - | 1 |
| 5-96322360-G-A | c.1117G>A | p.V373I | Missense | 4/18 | - | 12 |
| 5-96322362-A-C | c.1119A>C | p.V373= | Synonymous | 4/18 | - | 1 |
| 5-96322362-A-G | c.1119A>G | p.V373= | Synonymous | 4/18 | - | 1 |
| 5-96322362-A-T | c.1119A>T | p.V373= | Synonymous | 4/18 | - | 1 |
| 5-96322408-G-A | c.1131+34G>A | - | IntronicSNV | - | 4/17 | 1 |
| 5-96322419-C-T | c.1131+45C>T | - | IntronicSNV | - | 4/17 | 6 |
| 5-96323280-C-T | c.1131+906C>T | - | IntronicSNV | - | 4/17 | 1 |
| 5-96323503-A-G | c.1131+1129A>G | - | IntronicSNV | - | 4/17 | 1 |
| 5-96323549-T-C | c.1131+1175T>C | - | IntronicSNV | - | 4/17 | 1 |
| 5-96324199-C-T | c.1131+1825C>T | - | IntronicSNV | - | 4/17 | 1 |
| 5-96325018-T-A | c.1131+2644T>A | - | IntronicSNV | - | 4/17 | 3 |
| 5-96325026-A-T | c.1131+2652A>T | - | IntronicSNV | - | 4/17 | 1 |
| 5-96327138-G-A | c.1132-1581G>A | - | IntronicSNV | - | 4/17 | 2 |
| 5-96327138-G-T | c.1132-1581G>T | - | IntronicSNV | - | 4/17 | 2 |
| 5-96327289-C-T | c.1132-1430C>T | - | IntronicSNV | - | 4/17 | 2 |
| 5-96327549-A-ATT | c.1132-1169_1132-1168insTT | - | IntronicInsertion | - | 4/17 | 1 |
| 5-96327663-A-G | c.1132-1056A>G | - | IntronicSNV | - | 4/17 | 2 |
| 5-96327663-A-T | c.1132-1056A>T | - | IntronicSNV | - | 4/17 | 2 |
| 5-96327739-A-AT | c.1132-979dup | - | IntronicInsertion | - | 4/17 | 1 |
| 5-96328598-C-T | c.1132-121C>T | - | IntronicSNV | - | 4/17 | 1 |
| 5-96328720-T-C | c.1133T>C | p.V378A | Missense | 5/18 | - | 1 |
| 5-96328725-A-G | c.1138A>G | p.I380V | Missense | 5/18 | - | 2 |
| 5-96328733-T-A | c.1146T>A | p.A382= | Synonymous | 5/18 | - | 1 |
| 5-96328733-T-C | c.1146T>C | p.A382= | Synonymous | 5/18 | - | 1 |
| 5-96328733-T-G | c.1146T>G | p.A382= | Synonymous | 5/18 | - | 1 |
| 5-96328734-G-A | c.1147G>A | p.V383I | Missense | 5/18 | - | 2 |
| 5-96328750-G-A | c.1163G>A | p.G388D | Missense | 5/18 | - | 2 |
| 5-96328752-C-A | c.1165C>A | p.Q389K | Missense | 5/18 | - | 1 |
| 5-96328758-C-A | c.1171C>A | p.H391N | Missense | 5/18 | - | 1 |
| 5-96328758-C-G | c.1171C>G | p.H391D | Missense | 5/18 | - | 1 |
| 5-96328758-C-T | c.1171C>T | p.H391Y | Missense | 5/18 | - | 1 |
| 5-96328770-G-C | c.1183G>C | p.E395Q | Missense | 5/18 | - | 1 |
| 5-96328772-A-C | c.1185A>C | p.E395D | Missense | 5/18 | - | 1 |
| 5-96328772-A-T | c.1185A>T | p.E395D | Missense | 5/18 | - | 1 |
| 5-96328796-T-C | c.1209T>C | p.F403= | Synonymous | 5/18 | - | 2 |
| 5-96328797-T-G | c.1210T>G | p.F404V | Missense | 5/18 | - | 1 |
| 5-96328800-C-A | c.1213C>A | p.Q405K | Missense | 5/18 | - | 1 |
| 5-96328800-C-G | c.1213C>G | p.Q405E | Missense | 5/18 | - | 2 |
| 5-96328801-A-G | c.1214A>G | p.Q405R | Missense | 5/18 | - | 1 |
| 5-96328807-A-G | c.1220A>G | p.Y407C | Missense | 5/18 | - | 2 |
| 5-96328814-A-C | c.1227A>C | p.E409D | Missense | 5/18 | - | 1 |
| 5-96328814-A-T | c.1227A>T | p.E409D | Missense | 5/18 | - | 1 |
| 5-96328816-T-A | c.1229T>A | p.I410N | Missense | 5/18 | - | 1 |
| 5-96328816-T-C | c.1229T>C | p.I410T | Missense | 5/18 | - | 1 |
| 5-96328818-C-A | c.1231C>A | p.Q411K | Missense | 5/18 | - | 1 |
| 5-96328821-T-G | c.1234T>G | p.Y412D | Missense | 5/18 | - | 2 |
| 5-96328822-A-G | c.1235A>G | p.Y412C | Missense | 5/18 | - | 1 |
| 5-96328822-A-T | c.1235A>T | p.Y412F | Missense | 5/18 | - | 2 |
| 5-96328823-C-T | c.1236C>T | p.Y412= | Synonymous | 5/18 | - | 1 |
| 5-96328824-C-T | c.1237C>T | p.P413S | Missense | 5/18 | - | 1 |
| 5-96328825-C-T | c.1238C>T | p.P413L | Missense | 5/18 | - | 1 |
| 5-96328832-G-A | c.1245G>A | p.K415= | Synonymous | 5/18 | - | 1 |
| 5-96328832-G-C | c.1245G>C | p.K415N | Missense | 5/18 | - | 2 |
| 5-96328832-G-T | c.1245G>T | p.K415N | Missense | 5/18 | - | 3 |
| 5-96328833-A-C | c.1246A>C | p.K416Q | Missense | 5/18 | - | 3 |
| 5-96329525-G-C | c.1257G>C | p.L419F | Missense | 6/18 | - | 1 |
| 5-96329525-G-T | c.1257G>T | p.L419F | Missense | 6/18 | - | 1 |
| 5-96329530-C-T | c.1262C>T | p.A421V | Missense | 6/18 | - | 1 |
| 5-96329535-C-T | c.1267C>T | p.P423S | Missense | 6/18 | - | 1 |
| 5-96329541-T-C | c.1273T>C | p.F425L | Missense | 6/18 | - | 1 |
| 5-96329543-T-A | c.1275T>A | p.F425L | Missense | 6/18 | - | 1 |
| 5-96329543-T-G | c.1275T>G | p.F425L | Missense | 6/18 | - | 1 |
| 5-96329545-A-T | c.1277A>T | p.E426V | Missense | 6/18 | - | 1 |
| 5-96329550-GG-AA | c.1282_1283delinsAA | p.G428K | Missense | 6/18 | - | 1 |
| 5-96329551-G-A | c.1283G>A | p.G428E | Missense | 6/18 | - | 1 |
| 5-96329551-GA-AC | c.1283_1284delinsAC | p.G428D | Missense | 6/18 | - | 1 |
| 5-96329557-T-C | c.1289T>C | p.M430T | Missense | 6/18 | - | 2 |
| 5-96329574-C-T | c.1306C>T | p.L436F | Missense | 6/18 | - | 1 |
| 5-96329583-C-A | c.1315C>A | p.R439= | Synonymous | 6/18 | - | 1 |
| 5-96329583-C-T | c.1315C>T | p.R439* | Nonsense | 6/18 | - | 1 |
| 5-96329585-A-C | c.1317A>C | p.R439= | Synonymous | 6/18 | - | 1 |
| 5-96329585-A-G | c.1317A>G | p.R439= | Synonymous | 6/18 | - | 1 |
| 5-96329585-A-T | c.1317A>T | p.R439= | Synonymous | 6/18 | - | 1 |
| 5-96329584-G-C | c.1316G>C | p.R439P | Missense | 6/18 | - | 1 |
| 5-96329584-G-T | c.1316G>T | p.R439L | Missense | 6/18 | - | 3 |
| 5-96329587-A-T | c.1319A>T | p.E440V | Missense | 6/18 | - | 2 |
| 5-96329588-G-A | c.1320G>A | p.E440= | Synonymous | 6/18 | - | 1 |
| 5-96329602-A-G | c.1334A>G | p.Y445C | Missense | 6/18 | - | 1 |
| 5-96329614-C-T | c.1346C>T | p.T449I | Missense | 6/18 | - | 2 |
| 5-96329617-C-A | c.1349C>A | p.S450Y | Missense | 6/18 | - | 2 |
| 5-96329619-T-C | c.1351T>C | p.S451P | Missense | 6/18 | - | 2 |
| 5-96329625-G-A | c.1357G>A | p.A453T | Missense | 6/18 | - | 1 |
| 5-96329626-C-T | c.1358C>T | p.A453V | Missense | 6/18 | - | 3 |
| 5-96329636-G-T | c.1368G>T | p.K456N | Missense | 6/18 | - | 1 |
| 5-96329651-C-T | c.1383C>T | p.I461= | Synonymous | 6/18 | - | 2 |
| 5-96329656-C-T | c.1388C>T | p.A463V | Missense | 6/18 | - | 1 |
| 5-96329658-C-T | c.1390C>T | p.H464Y | Missense | 6/18 | - | 3 |
| 5-96329673-C-A | c.1405C>A | p.Q469K | Missense | 6/18 | - | 2 |
| 5-96329673-C-T | c.1405C>T | p.Q469* | Nonsense | 6/18 | - | 1 |
| 5-96329762-CT-C | c.1407+98del | - | IntronicDeletion | - | 6/17 | 1 |
| 5-96329857-G-T | c.1407+182G>T | - | IntronicSNV | - | 6/17 | 1 |
| 5-96330302-A-G | c.1407+627A>G | - | IntronicSNV | - | 6/17 | 1 |
| 5-96330966-T-C | c.1408-1128T>C | - | IntronicSNV | - | 6/17 | 2 |
| 5-96331368-G-GA | c.1408-726_1408-725insA | - | IntronicInsertion | - | 6/17 | 1 |
| 5-96331369-C-A | c.1408-725C>A | - | IntronicSNV | - | 6/17 | 1 |
| 5-96331371-A-ACC | c.1408-723_1408-722insCC | - | IntronicInsertion | - | 6/17 | 1 |
| 5-96331371-A-C | c.1408-723A>C | - | IntronicSNV | - | 6/17 | 1 |
| 5-96332095-G-A | c.1409G>A | p.W470* | Nonsense | 7/18 | - | 1 |
| 5-96332096-G-C | c.1410G>C | p.W470C | Missense | 7/18 | - | 1 |
| 5-96332096-G-T | c.1410G>T | p.W470C | Missense | 7/18 | - | 2 |
| 5-96332107-T-A | c.1421T>A | p.L474Q | Missense | 7/18 | - | 1 |
| 5-96332109-G-A | c.1423G>A | p.V475I | Missense | 7/18 | - | 1 |
| 5-96332113-C-T | c.1427C>T | p.T476I | Missense | 7/18 | - | 3 |
| 5-96332115-A-G | c.1429A>G | p.M477V | Missense | 7/18 | - | 1 |
| 5-96332120-G-A | c.1434G>A | p.K478= | Synonymous | 7/18 | - | 1 |
| 5-96332122-G-A | c.1436G>A | p.W479* | Nonsense | 7/18 | - | 1 |
| 5-96332123-G-A | c.1437G>A | p.W479* | Nonsense | 7/18 | - | 2 |
| 5-96332125-G-T | c.1439G>T | p.W480L | Missense | 7/18 | - | 1 |
| 5-96332135-A-G | c.1449A>G | p.L483= | Synonymous | 7/18 | - | 2 |
| 5-96332137-G-A | c.1451G>A | p.W484* | Nonsense | 7/18 | - | 1 |
| 5-96332138-G-A | c.1452G>A | p.W484* | Nonsense | 7/18 | - | 1 |
| 5-96332145-G-A | c.1459G>A | p.E487K | Missense | 7/18 | - | 1 |
| 5-96332154-G-A | c.1468G>A | p.A490T | Missense | 7/18 | - | 1 |
| 5-96332154-G-T | c.1468G>T | p.A490S | Missense | 7/18 | - | 1 |
| 5-96332162-C-T | c.1476C>T | p.F492= | Synonymous | 7/18 | - | 2 |
| 5-96332163-A-G | c.1477A>G | p.M493V | Missense | 7/18 | - | 4 |
| 5-96332164-T-C | c.1478T>C | p.M493T | Missense | 7/18 | - | 1 |
| 5-96332172-T-C | c.1486T>C | p.F496L | Missense | 7/18 | - | 2 |
| 5-96332174-C-A | c.1488C>A | p.F496L | Missense | 7/18 | - | 2 |
| 5-96332174-C-G | c.1488C>G | p.F496L | Missense | 7/18 | - | 2 |
| 5-96332174-C-T | c.1488C>T | p.F496= | Synonymous | 7/18 | - | 2 |
| 5-96332176-C-G | c.1490C>G | p.S497C | Missense | 7/18 | - | 1 |
| 5-96332177-T-A | c.1491T>A | p.S497= | Synonymous | 7/18 | - | 3 |
| 5-96332177-T-C | c.1491T>C | p.S497= | Synonymous | 7/18 | - | 3 |
| 5-96332177-T-G | c.1491T>G | p.S497= | Synonymous | 7/18 | - | 3 |
| 5-96332185-A-G | c.1499A>G | p.K500R | Missense | 7/18 | - | 1 |
| 5-96332181-GA-G | c.1501del | p.I501Yfs*12 | Frameshift | 7/18 | - | 2 |
| 5-96332190-T-C | c.1504T>C | p.F502L | Missense | 7/18 | - | 1 |
| 5-96332191-T-G | c.1505T>G | p.F502C | Missense | 7/18 | - | 1 |
| 5-96332192-C-A | c.1506C>A | p.F502L | Missense | 7/18 | - | 2 |
| 5-96332192-C-G | c.1506C>G | p.F502L | Missense | 7/18 | - | 2 |
| 5-96332193-A-C | c.1507A>C | p.K503Q | Missense | 7/18 | - | 1 |
| 5-96332203-C-G | c.1517C>G | p.S506C | Missense | 7/18 | - | 1 |
| 5-96332205-A-G | c.1519A>G | p.S507G | Missense | 7/18 | - | 1 |
| 5-96332205-A-T | c.1519A>T | p.S507C | Missense | 7/18 | - | 1 |
| 5-96332208-G-A | c.1521+1G>A | - | IntronicSNV | - | 7/17 | 1 |
| 5-96332232-A-G | c.1521+25A>G | - | IntronicSNV | - | 7/17 | 1 |
| 5-96333334-G-A | c.1522-384G>A | - | IntronicSNV | - | 7/17 | 1 |
| 5-96333677-G-A | c.1522-41G>A | - | IntronicSNV | - | 7/17 | 1 |
| 5-96333727-T-G | c.1531T>G | p.F511V | Missense | 8/18 | - | 1 |
| 5-96333739-C-T | c.1543C>T | p.R515* | Nonsense | 8/18 | - | 1 |
| 5-96333740-G-A | c.1544G>A | p.R515Q | Missense | 8/18 | - | 7 |
| 5-96333740-G-T | c.1544G>T | p.R515L | Missense | 8/18 | - | 2 |
| 5-96333743-T-G | c.1547T>G | p.F516C | Missense | 8/18 | - | 1 |
| 5-96333745-A-C | c.1549A>C | p.K517Q | Missense | 8/18 | - | 1 |
| 5-96333749-CC-TG | c.1553_1554delinsTG | p.T518M | Missense | 8/18 | - | 1 |
| 5-96333752-T-C | c.1556T>C | p.M519T | Missense | 8/18 | - | 2 |
| 5-96333753-G-A | c.1557G>A | p.M519I | Missense | 8/18 | - | 1 |
| 5-96333753-G-C | c.1557G>C | p.M519I | Missense | 8/18 | - | 1 |
| 5-96333753-G-T | c.1557G>T | p.M519I | Missense | 8/18 | - | 1 |
| 5-96333759-A-T | c.1563A>T | p.K521N | Missense | 8/18 | - | 1 |
| 5-96333760-G-A | c.1564G>A | p.D522N | Missense | 8/18 | - | 2 |
| 5-96333765-C-G | c.1569C>G | p.S523= | Synonymous | 8/18 | - | 2 |
| 5-96333765-C-T | c.1569C>T | p.S523= | Synonymous | 8/18 | - | 2 |
| 5-96333769-A-C | c.1573A>C | p.N525H | Missense | 8/18 | - | 1 |
| 5-96333773-C-A | c.1577C>A | p.S526* | Nonsense | 8/18 | - | 4 |
| 5-96333773-C-T | c.1577C>T | p.S526L | Missense | 8/18 | - | 4 |
| 5-96333778-C-T | c.1582C>T | p.H528Y | Missense | 8/18 | - | 3 |
| 5-96333782-C-T | c.1586C>T | p.P529L | Missense | 8/18 | - | 7 |
| 5-96333796-G-A | c.1600G>A | p.V534I | Missense | 8/18 | - | 1 |
| 5-96333801-G-A | c.1605G>A | p.Q535= | Synonymous | 8/18 | - | 1 |
| 5-96333803-C-T | c.1607C>T | p.S536F | Missense | 8/18 | - | 4 |
| 5-96333809-A-G | c.1613A>G | p.E538G | Missense | 8/18 | - | 1 |
| 5-96333810-A-G | c.1614A>G | p.E538= | Synonymous | 8/18 | - | 1 |
| 5-96333812-A-G | c.1616A>G | p.Q539R | Missense | 8/18 | - | 1 |
| 5-96333817-G-T | c.1621G>T | p.E541* | Nonsense | 8/18 | - | 2 |
| 5-96333820-G-A | c.1624G>A | p.E542K | Missense | 8/18 | - | 2 |
| 5-96333825-TG-T | c.1629del | p.M543Ifs*15 | Frameshift | 8/18 | - | 1 |
| 5-96333829-G-A | c.1633G>A | p.D545N | Missense | 8/18 | - | 1 |
| 5-96333830-A-T | c.1634A>T | p.D545V | Missense | 8/18 | - | 1 |
| 5-96333833-C-T | c.1637C>T | p.S546F | Missense | 8/18 | - | 5 |
| 5-96333835-C-A | c.1639C>A | p.L547I | Missense | 8/18 | - | 1 |
| 5-96333839-C-A | c.1643C>A | p.S548Y | Missense | 8/18 | - | 2 |
| 5-96333839-C-T | c.1643C>T | p.S548F | Missense | 8/18 | - | 4 |
| 5-96333841-T-C | c.1645T>C | p.Y549H | Missense | 8/18 | - | 1 |
| 5-96333842-A-C | c.1646A>C | p.Y549S | Missense | 8/18 | - | 1 |
| 5-96333856-C-T | c.1653+7C>T | - | IntronicSNV | - | 8/17 | 1 |
| 5-96334558-G-T | c.1653+709G>T | - | IntronicSNV | - | 8/17 | 3 |
| 5-96335350-C-T | c.1653+1501C>T | - | IntronicSNV | - | 8/17 | 1 |
| 5-96336156-C-CATG | c.1653+2309_1653+2310insGAT | - | IntronicInsertion | - | 8/17 | 1 |
| 5-96336156-C-CATGATAAGAGTGGCTCACTGAGCCACTATTGCATG | c.1653+2309_1653+2310insGATAAGAGTGGCTCACTGAGCCACTATTGCATGAT | - | IntronicInsertion | - | 8/17 | 1 |
| 5-96336791-A-G | c.1654-2328A>G | - | IntronicSNV | - | 8/17 | 2 |
| 5-96337649-G-C | c.1654-1470G>C | - | IntronicSNV | - | 8/17 | 2 |
| 5-96337790-T-A | c.1654-1329T>A | - | IntronicSNV | - | 8/17 | 2 |
| 5-96337790-T-C | c.1654-1329T>C | - | IntronicSNV | - | 8/17 | 2 |
| 5-96338505-C-G | c.1654-614C>G | - | IntronicSNV | - | 8/17 | 3 |
| 5-96338505-C-T | c.1654-614C>T | - | IntronicSNV | - | 8/17 | 3 |
| 5-96339120-G-A | c.1655G>A | p.G552E | Missense | 9/18 | - | 1 |
| 5-96339125-T-C | c.1660T>C | p.S554P | Missense | 9/18 | - | 1 |
| 5-96339125-T-G | c.1660T>G | p.S554A | Missense | 9/18 | - | 1 |
| 5-96339131-T-C | c.1666T>C | p.L556= | Synonymous | 9/18 | - | 1 |
| 5-96339133-G-A | c.1668G>A | p.L556= | Synonymous | 9/18 | - | 1 |
| 5-96339136-G-C | c.1671G>C | p.L557F | Missense | 9/18 | - | 1 |
| 5-96339136-G-T | c.1671G>T | p.L557F | Missense | 9/18 | - | 1 |
| 5-96339137-A-G | c.1672A>G | p.M558V | Missense | 9/18 | - | 1 |
| 5-96339142-G-A | c.1677G>A | p.L559= | Synonymous | 9/18 | - | 1 |
| 5-96339152-C-A | c.1687C>A | p.L563I | Missense | 9/18 | - | 2 |
| 5-96339155-AG-TT | c.1690_1691delinsTT | p.S564F | Missense | 9/18 | - | 1 |
| 5-96339156-G-A | c.1691G>A | p.S564N | Missense | 9/18 | - | 1 |
| 5-96339155-A-C | c.1690A>C | p.S564R | Missense | 9/18 | - | 1 |
| 5-96339157-T-A | c.1692T>A | p.S564R | Missense | 9/18 | - | 1 |
| 5-96339157-T-G | c.1692T>G | p.S564R | Missense | 9/18 | - | 1 |
| 5-96339161-G-T | c.1696G>T | p.D566Y | Missense | 9/18 | - | 1 |
| 5-96339162-A-T | c.1697A>T | p.D566V | Missense | 9/18 | - | 2 |
| 5-96339166-G-T | c.1701G>T | p.V567= | Synonymous | 9/18 | - | 1 |
| 5-96339179-G-A | c.1714G>A | p.V572I | Missense | 9/18 | - | 1 |
| 5-96339189-A-G | c.1724A>G | p.Y575C | Missense | 9/18 | - | 1 |
| 5-96339190-C-T | c.1725C>T | p.Y575= | Synonymous | 9/18 | - | 1 |
| 5-96339191-C-A | c.1726C>A | p.L576M | Missense | 9/18 | - | 1 |
| 5-96339196-T-A | c.1731T>A | p.H577Q | Missense | 9/18 | - | 1 |
| 5-96339196-T-G | c.1731T>G | p.H577Q | Missense | 9/18 | - | 1 |
| 5-96339203-A-G | c.1738A>G | p.S580G | Missense | 9/18 | - | 1 |
| 5-96339207-A-G | c.1742A>G | p.Y581C | Missense | 9/18 | - | 3 |
| 5-96339210-C-T | c.1745C>T | p.A582V | Missense | 9/18 | - | 1 |
| 5-96339222-G-A | c.1757G>A | p.S586N | Missense | 9/18 | - | 1 |
| 5-96339241-T-G | c.1776T>G | p.S592R | Missense | 9/18 | - | 1 |
| 5-96339245-A-T | c.1780A>T | p.N594Y | Missense | 9/18 | - | 1 |
| 5-96339246-A-T | c.1781A>T | p.N594I | Missense | 9/18 | - | 3 |
| 5-96339251-G-A | c.1785+1G>A | - | IntronicSNV | - | 9/17 | 2 |
| 5-96339273-T-G | c.1785+23T>G | - | IntronicSNV | - | 9/17 | 7 |
| 5-96339488-G-T | c.1785+238G>T | - | IntronicSNV | - | 9/17 | 3 |
| 5-96340616-T-A | c.1786-1161T>A | - | IntronicSNV | - | 9/17 | 1 |
| 5-96340616-T-G | c.1786-1161T>G | - | IntronicSNV | - | 9/17 | 1 |
| 5-96341785-C-A | c.1794C>A | p.N598K | Missense | 10/18 | - | 1 |
| 5-96341785-C-G | c.1794C>G | p.N598K | Missense | 10/18 | - | 1 |
| 5-96341792-C-T | c.1801C>T | p.L601= | Synonymous | 10/18 | - | 4 |
| 5-96341795-G-A | c.1804G>A | p.D602N | Missense | 10/18 | - | 1 |
| 5-96341798-G-A | c.1807G>A | p.V603I | Missense | 10/18 | - | 1 |
| 5-96341826-CT-C | c.1835del | p.L612Rfs*7 | Frameshift | 10/18 | - | 1 |
| 5-96341826-T-C | c.1835T>C | p.L612P | Missense | 10/18 | - | 1 |
| 5-96341827-G-T | c.1836G>T | p.L612= | Synonymous | 10/18 | - | 1 |
| 5-96341840-C-T | c.1849C>T | p.P617S | Missense | 10/18 | - | 6 |
| 5-96341841-C-T | c.1850C>T | p.P617L | Missense | 10/18 | - | 2 |
| 5-96341846-G-A | c.1855G>A | p.V619M | Missense | 10/18 | - | 1 |
| 5-96341850-C-T | c.1859C>T | p.T620I | Missense | 10/18 | - | 2 |
| 5-96341852-G-A | c.1861G>A | p.V621I | Missense | 10/18 | - | 1 |
| 5-96341853-T-C | c.1862T>C | p.V621A | Missense | 10/18 | - | 1 |
| 5-96341855-C-T | c.1864C>T | p.Q622* | Nonsense | 10/18 | - | 1 |
| 5-96341862-A-G | c.1871A>G | p.K624R | Missense | 10/18 | - | 1 |
| 5-96341864-G-T | c.1873G>T | p.G625* | Nonsense | 10/18 | - | 1 |
| 5-96341869-G-T | c.1878G>T | p.K626N | Missense | 10/18 | - | 1 |
| 5-96341870-G-A | c.1879G>A | p.E627K | Missense | 10/18 | - | 1 |
| 5-96341870-G-C | c.1879G>C | p.E627Q | Missense | 10/18 | - | 1 |
| 5-96341880-T-A | c.1889T>A | p.I630K | Missense | 10/18 | - | 1 |
| 5-96341882-C-A | c.1891C>A | p.Q631K | Missense | 10/18 | - | 1 |
| 5-96341885-C-A | c.1894C>A | p.Q632K | Missense | 10/18 | - | 1 |
| 5-96341889-A-G | c.1898A>G | p.E633G | Missense | 10/18 | - | 1 |
| 5-96341890-G-C | c.1899G>C | p.E633D | Missense | 10/18 | - | 1 |
| 5-96341890-G-T | c.1899G>T | p.E633D | Missense | 10/18 | - | 1 |
| 5-96341891-AG-CA | c.1900_1901delinsCA | p.R634Q | Missense | 10/18 | - | 1 |
| 5-96341892-G-C | c.1901G>C | p.R634T | Missense | 10/18 | - | 1 |
| 5-96341894-T-C | c.1903T>C | p.F635L | Missense | 10/18 | - | 2 |
| 5-96341896-C-G | c.1905C>G | p.F635L | Missense | 10/18 | - | 2 |
| 5-96341896-C-A | c.1905C>A | p.F635L | Missense | 10/18 | - | 3 |
| 5-96341912-C-T | c.1921C>T | p.P641S | Missense | 10/18 | - | 6 |
| 5-96341942-A-G | c.1946+5A>G | - | IntronicSNV | - | 10/17 | 1 |
| 5-96342132-T-C | c.1948T>C | p.Y650H | Missense | 11/18 | - | 2 |
| 5-96342133-A-C | c.1949A>C | p.Y650S | Missense | 11/18 | - | 1 |
| 5-96342136-T-C | c.1952T>C | p.L651P | Missense | 11/18 | - | 1 |
| 5-96342141-C-A | c.1957C>A | p.H653N | Missense | 11/18 | - | 1 |
| 5-96342141-C-T | c.1957C>T | p.H653Y | Missense | 11/18 | - | 2 |
| 5-96342142-A-G | c.1958A>G | p.H653R | Missense | 11/18 | - | 2 |
| 5-96342160-T-C | c.1976T>C | p.V659A | Missense | 11/18 | - | 2 |
| 5-96342164-T-A | c.1980T>A | p.T660= | Synonymous | 11/18 | - | 1 |
| 5-96342164-T-C | c.1980T>C | p.T660= | Synonymous | 11/18 | - | 1 |
| 5-96342164-T-G | c.1980T>G | p.T660= | Synonymous | 11/18 | - | 1 |
| 5-96342168-G-A | c.1984G>A | p.G662R | Missense | 11/18 | - | 1 |
| 5-96342168-G-C | c.1984G>C | p.G662R | Missense | 11/18 | - | 1 |
| 5-96342171-A-G | c.1987A>G | p.R663G | Missense | 11/18 | - | 1 |
| 5-96342172-G-A | c.1988G>A | p.R663K | Missense | 11/18 | - | 1 |
| 5-96342178-A-G | c.1994A>G | p.Y665C | Missense | 11/18 | - | 1 |
| 5-96342179-T-A | c.1995T>A | p.Y665* | Nonsense | 11/18 | - | 1 |
| 5-96342182-A-G | c.1998A>G | p.S666= | Synonymous | 11/18 | - | 2 |
| 5-96342185-A-G | c.2001A>G | p.K667= | Synonymous | 11/18 | - | 1 |
| 5-96342187-A-G | c.2003A>G | p.Y668C | Missense | 11/18 | - | 1 |
| 5-96342189-C-T | c.2005C>T | p.Q669* | Nonsense | 11/18 | - | 3 |
| 5-96342191-A-C | c.2007A>C | p.Q669H | Missense | 11/18 | - | 1 |
| 5-96342191-A-T | c.2007A>T | p.Q669H | Missense | 11/18 | - | 1 |
| 5-96342193-C-T | c.2009C>T | p.S670L | Missense | 11/18 | - | 1 |
| 5-96342194-G-A | c.2010G>A | p.S670= | Synonymous | 11/18 | - | 5 |
| 5-96342194-G-C | c.2010G>C | p.S670= | Synonymous | 11/18 | - | 1 |
| 5-96342194-G-T | c.2010G>T | p.S670= | Synonymous | 11/18 | - | 1 |
| 5-96342197-A-C | c.2013A>C | p.V671= | Synonymous | 11/18 | - | 1 |
| 5-96342199-C-T | c.2015C>T | p.S672L | Missense | 11/18 | - | 2 |
| 5-96342201-T-G | c.2017T>G | p.L673V | Missense | 11/18 | - | 2 |
| 5-96342212-G-A | c.2028G>A | p.K676= | Synonymous | 11/18 | - | 1 |
| 5-96342213-A-C | c.2029A>C | p.K677Q | Missense | 11/18 | - | 1 |
| 5-96342216-TCA-AAC | c.2032_2034delinsAAC | p.S678N | Missense | 11/18 | - | 1 |
| 5-96342219-G-C | c.2035G>C | p.G679R | Missense | 11/18 | - | 1 |
| 5-96343552-A-G | c.2035+1333A>G | - | IntronicSNV | - | 11/17 | 2 |
| 5-96345069-T-TCC | c.2035+2854_2035+2855dup | - | IntronicInsertion | - | 11/17 | 1 |
| 5-96345069-T-TC | c.2035+2855dup | - | IntronicInsertion | - | 11/17 | 1 |
| 5-96345739-A-C | c.2035+3520A>C | - | IntronicSNV | - | 11/17 | 2 |
| 5-96345739-A-G | c.2035+3520A>G | - | IntronicSNV | - | 11/17 | 2 |
| 5-96345739-A-T | c.2035+3520A>T | - | IntronicSNV | - | 11/17 | 2 |
| 5-96346278-G-T | c.2036-3074G>T | - | IntronicSNV | - | 11/17 | 2 |
| 5-96347775-C-A | c.2036-1577C>A | - | IntronicSNV | - | 11/17 | 2 |
| 5-96347775-C-G | c.2036-1577C>G | - | IntronicSNV | - | 11/17 | 2 |
| 5-96347775-C-T | c.2036-1577C>T | - | IntronicSNV | - | 11/17 | 2 |
| 5-96349361-A-G | c.2045A>G | p.N682S | Missense | 12/18 | - | 3 |
| 5-96349378-C-A | c.2062C>A | p.L688M | Missense | 12/18 | - | 1 |
| 5-96349392-G-A | c.2076G>A | p.V692= | Synonymous | 12/18 | - | 1 |
| 5-96349392-G-C | c.2076G>C | p.V692= | Synonymous | 12/18 | - | 1 |
| 5-96349392-G-T | c.2076G>T | p.V692= | Synonymous | 12/18 | - | 1 |
| 5-96349394-A-G | c.2078A>G | p.N693S | Missense | 12/18 | - | 1 |
| 5-96349396-A-G | c.2080A>G | p.I694V | Missense | 12/18 | - | 2 |
| 5-96349419-T-C | c.2103T>C | p.I701= | Synonymous | 12/18 | - | 1 |
| 5-96349422-A-C | c.2106A>C | p.V702= | Synonymous | 12/18 | - | 2 |
| 5-96349422-A-G | c.2106A>G | p.V702= | Synonymous | 12/18 | - | 3 |
| 5-96349422-A-T | c.2106A>T | p.V702= | Synonymous | 12/18 | - | 2 |
| 5-96349435-G-A | c.2119G>A | p.D707N | Missense | 12/18 | - | 1 |
| 5-96349440-T-C | c.2124T>C | p.D708= | Synonymous | 12/18 | - | 1 |
| 5-96349442-G-T | c.2126G>T | p.W709L | Missense | 12/18 | - | 1 |
| 5-96349446-A-G | c.2130A>G | p.E710= | Synonymous | 12/18 | - | 1 |
| 5-96349452-A-C | c.2136A>C | p.L712= | Synonymous | 12/18 | - | 4 |
| 5-96349455-C-A | c.2139C>A | p.I713= | Synonymous | 12/18 | - | 1 |
| 5-96349455-C-T | c.2139C>T | p.I713= | Synonymous | 12/18 | - | 2 |
| 5-96349456-C-T | c.2140C>T | p.H714Y | Missense | 12/18 | - | 1 |
| 5-96349468-A-G | c.2152A>G | p.I718V | Missense | 12/18 | - | 1 |
| 5-96349474-C-A | c.2158C>A | p.P720T | Missense | 12/18 | - | 5 |
| 5-96349474-CC-TT | c.2158_2159delinsTT | p.P720F | Missense | 12/18 | - | 4 |
| 5-96349476-T-G | c.2160T>G | p.P720= | Synonymous | 12/18 | - | 1 |
| 5-96349489-G-A | c.2173G>A | p.D725N | Missense | 12/18 | - | 2 |
| 5-96349489-G-T | c.2173G>T | p.D725Y | Missense | 12/18 | - | 2 |
| 5-96349491-C-CT | c.2175_2176insT | p.K726* | Nonsense | 12/18 | - | 1 |
| 5-96349498-C-A | c.2182C>A | p.R728= | Synonymous | 12/18 | - | 2 |
| 5-96349498-C-T | c.2182C>T | p.R728* | Nonsense | 12/18 | - | 2 |
| 5-96349500-A-C | c.2184A>C | p.R728= | Synonymous | 12/18 | - | 1 |
| 5-96349500-A-G | c.2184A>G | p.R728= | Synonymous | 12/18 | - | 1 |
| 5-96349500-A-T | c.2184A>T | p.R728= | Synonymous | 12/18 | - | 1 |
| 5-96349501-G-A | c.2185G>A | p.A729T | Missense | 12/18 | - | 1 |
| 5-96349504-A-C | c.2188A>C | p.N730H | Missense | 12/18 | - | 1 |
| 5-96349505-A-G | c.2189A>G | p.N730S | Missense | 12/18 | - | 1 |
| 5-96349507-C-T | c.2191C>T | p.L731F | Missense | 12/18 | - | 1 |
| 5-96349510-A-G | c.2194A>G | p.I732V | Missense | 12/18 | - | 1 |
| 5-96349514-A-T | c.2198A>T | p.N733I | Missense | 12/18 | - | 1 |
| 5-96349525-GA-G | c.2211del | p.E737Dfs*5 | Frameshift | 12/18 | - | 1 |
| 5-96349529-T-C | c.2213T>C | p.L738P | Missense | 12/18 | - | 1 |
| 5-96349535-G-A | c.2219G>A | p.G740D | Missense | 12/18 | - | 2 |
| 5-96349535-G-C | c.2219G>C | p.G740A | Missense | 12/18 | - | 1 |
| 5-96349537-T-C | c.2219+2T>C | - | IntronicSNV | - | 12/17 | 1 |
| 5-96349541-G-A | c.2219+6G>A | - | IntronicSNV | - | 12/17 | 1 |
| 5-96349545-A-G | c.2219+10A>G | - | IntronicSNV | - | 12/17 | 2 |
| 5-96350088-G-A | c.2219+553G>A | - | IntronicSNV | - | 12/17 | 10 |
| 5-96350270-G-A | c.2220-373G>A | - | IntronicSNV | - | 12/17 | 1 |
| 5-96350643-C-T | c.2220C>T | p.G740= | Synonymous | 13/18 | - | 1 |
| 5-96350645-CTAGGCAAGGTA-C | c.2222_2232del | p.L741Pfs*7 | Frameshift | 13/18 | - | 1 |
| 5-96350645-T-C | c.2222T>C | p.L741P | Missense | 13/18 | - | 1 |
| 5-96350648-G-A | c.2225G>A | p.G742D | Missense | 13/18 | - | 2 |
| 5-96350655-A-C | c.2232A>C | p.V744= | Synonymous | 13/18 | - | 1 |
| 5-96350655-A-G | c.2232A>G | p.V744= | Synonymous | 13/18 | - | 1 |
| 5-96350655-A-T | c.2232A>T | p.V744= | Synonymous | 13/18 | - | 1 |
| 5-96350664-G-A | c.2241G>A | p.K747= | Synonymous | 13/18 | - | 1 |
| 5-96350665-A-G | c.2242A>G | p.R748G | Missense | 13/18 | - | 1 |
| 5-96350665-AG-CA | c.2242_2243delinsCA | p.R748Q | Missense | 13/18 | - | 1 |
| 5-96350668-G-A | c.2245G>A | p.A749T | Missense | 13/18 | - | 10 |
| 5-96350679-G-C | c.2256G>C | p.L752F | Missense | 13/18 | - | 1 |
| 5-96350679-G-T | c.2256G>T | p.L752F | Missense | 13/18 | - | 1 |
| 5-96350689-C-T | c.2266C>T | p.L756F | Missense | 13/18 | - | 1 |
| 5-96350690-T-G | c.2267T>G | p.L756R | Missense | 13/18 | - | 1 |
| 5-96350694-A-C | c.2271A>C | p.G757= | Synonymous | 13/18 | - | 1 |
| 5-96350694-A-G | c.2271A>G | p.G757= | Synonymous | 13/18 | - | 1 |
| 5-96350694-A-T | c.2271A>T | p.G757= | Synonymous | 13/18 | - | 1 |
| 5-96350700-G-A | c.2277G>A | p.E759= | Synonymous | 13/18 | - | 2 |
| 5-96350707-A-G | c.2284A>G | p.T762A | Missense | 13/18 | - | 1 |
| 5-96350710-G-A | c.2287G>A | p.A763T | Missense | 13/18 | - | 35 |
| 5-96350712-A-C | c.2289A>C | p.A763= | Synonymous | 13/18 | - | 2 |
| 5-96350712-A-G | c.2289A>G | p.A763= | Synonymous | 13/18 | - | 2 |
| 5-96350712-A-T | c.2289A>T | p.A763= | Synonymous | 13/18 | - | 2 |
| 5-96350713-C-T | c.2290C>T | p.P764S | Missense | 13/18 | - | 1 |
| 5-96350721-C-A | c.2298C>A | p.T766= | Synonymous | 13/18 | - | 1 |
| 5-96350721-C-G | c.2298C>G | p.T766= | Synonymous | 13/18 | - | 1 |
| 5-96350721-C-T | c.2298C>T | p.T766= | Synonymous | 13/18 | - | 1 |
| 5-96350725-G-T | c.2302G>T | p.A768S | Missense | 13/18 | - | 1 |
| 5-96350726-C-T | c.2303C>T | p.A768V | Missense | 13/18 | - | 1 |
| 5-96350727-C-A | c.2304C>A | p.A768= | Synonymous | 13/18 | - | 2 |
| 5-96350727-C-G | c.2304C>G | p.A768= | Synonymous | 13/18 | - | 1 |
| 5-96350727-C-T | c.2304C>T | p.A768= | Synonymous | 13/18 | - | 3 |
| 5-96350735-A-G | c.2312A>G | p.Q771R | Missense | 13/18 | - | 1 |
| 5-96350736-G-T | c.2313G>T | p.Q771H | Missense | 13/18 | - | 1 |
| 5-96350740-G-A | c.2317G>A | p.D773N | Missense | 13/18 | - | 2 |
| 5-96350745-C-T | c.2322C>T | p.L774= | Synonymous | 13/18 | - | 1 |
| 5-96350748-C-A | c.2325C>A | p.I775= | Synonymous | 13/18 | - | 1 |
| 5-96350748-C-T | c.2325C>T | p.I775= | Synonymous | 13/18 | - | 1 |
| 5-96350753-A-G | c.2330A>G | p.N777S | Missense | 13/18 | - | 1 |
| 5-96350754-C-A | c.2331C>A | p.N777K | Missense | 13/18 | - | 2 |
| 5-96350754-C-G | c.2331C>G | p.N777K | Missense | 13/18 | - | 2 |
| 5-96350761-G-A | c.2338G>A | p.E780K | Missense | 13/18 | - | 5 |
| 5-96350763-A-G | c.2340A>G | p.E780= | Synonymous | 13/18 | - | 1 |
| 5-96350769-G-T | c.2346G>T | p.L782= | Synonymous | 13/18 | - | 2 |
| 5-96350778-G-A | c.2355G>A | p.M785I | Missense | 13/18 | - | 1 |
| 5-96350778-G-C | c.2355G>C | p.M785I | Missense | 13/18 | - | 1 |
| 5-96350778-G-T | c.2355G>T | p.M785I | Missense | 13/18 | - | 1 |
| 5-96350785-G-T | c.2362G>T | p.A788S | Missense | 13/18 | - | 2 |
| 5-96350787-C-A | c.2364C>A | p.A788= | Synonymous | 13/18 | - | 1 |
| 5-96350789-C-A | c.2366C>A | p.S789* | Nonsense | 13/18 | - | 1 |
| 5-96350789-C-G | c.2366C>G | p.S789* | Nonsense | 13/18 | - | 1 |
| 5-96350794-C-A | c.2371C>A | p.L791M | Missense | 13/18 | - | 1 |
| 5-96350795-T-C | c.2372T>C | p.L791P | Missense | 13/18 | - | 2 |
| 5-96350798-TG-T | c.2376+1del | - | Frameshift | - | 13/17 | 1 |
| 5-96350846-G-A | c.2376+47G>A | - | IntronicSNV | - | 13/17 | 1 |
| 5-96350846-G-C | c.2376+47G>C | - | IntronicSNV | - | 13/17 | 1 |
| 5-96350846-G-T | c.2376+47G>T | - | IntronicSNV | - | 13/17 | 1 |
| 5-96352068-C-G | c.2376+1269C>G | - | IntronicSNV | - | 13/17 | 4 |
| 5-96352068-C-T | c.2376+1269C>T | - | IntronicSNV | - | 13/17 | 4 |
| 5-96353223-C-G | c.2376+2424C>G | - | IntronicSNV | - | 13/17 | 2 |
| 5-96353223-C-T | c.2376+2424C>T | - | IntronicSNV | - | 13/17 | 2 |
| 5-96353684-C-T | c.2376+2885C>T | - | IntronicSNV | - | 13/17 | 2 |
| 5-96355448-A-G | c.2377-2556A>G | - | IntronicSNV | - | 13/17 | 2 |
| 5-96355448-A-T | c.2377-2556A>T | - | IntronicSNV | - | 13/17 | 2 |
| 5-96355603-A-G | c.2377-2401A>G | - | IntronicSNV | - | 13/17 | 2 |
| 5-96356664-G-A | c.2377-1340G>A | - | IntronicSNV | - | 13/17 | 2 |
| 5-96356980-A-G | c.2377-1024A>G | - | IntronicSNV | - | 13/17 | 1 |
| 5-96357178-A-G | c.2377-826A>G | - | IntronicSNV | - | 13/17 | 6 |
| 5-96357178-A-T | c.2377-826A>T | - | IntronicSNV | - | 13/17 | 6 |
| 5-96357260-T-G | c.2377-744T>G | - | IntronicSNV | - | 13/17 | 1 |
| 5-96358010-G-A | c.2383G>A | p.V795I | Missense | 14/18 | - | 1 |
| 5-96358022-C-T | c.2395C>T | p.L799F | Missense | 14/18 | - | 4 |
| 5-96358023-T-C | c.2396T>C | p.L799P | Missense | 14/18 | - | 1 |
| 5-96358031-C-G | c.2404C>G | p.Q802E | Missense | 14/18 | - | 1 |
| 5-96358032-A-G | c.2405A>G | p.Q802R | Missense | 14/18 | - | 2 |
| 5-96358038-A-C | c.2411A>C | p.Q804P | Missense | 14/18 | - | 2 |
| 5-96358050-G-A | c.2423G>A | p.W808* | Nonsense | 14/18 | - | 2 |
| 5-96358051-G-A | c.2424G>A | p.W808* | Nonsense | 14/18 | - | 2 |
| 5-96358058-G-A | c.2431G>A | p.E811K | Missense | 14/18 | - | 1 |
| 5-96358060-G-A | c.2433G>A | p.E811= | Synonymous | 14/18 | - | 4 |
| 5-96358060-G-T | c.2433G>T | p.E811D | Missense | 14/18 | - | 1 |
| 5-96358063-C-T | c.2436C>T | p.G812= | Synonymous | 14/18 | - | 1 |
| 5-96358065-C-G | c.2438C>G | p.T813S | Missense | 14/18 | - | 1 |
| 5-96358067-C-T | c.2440C>T | p.P814S | Missense | 14/18 | - | 1 |
| 5-96358072-T-A | c.2445T>A | p.S815= | Synonymous | 14/18 | - | 1 |
| 5-96358072-T-C | c.2445T>C | p.S815= | Synonymous | 14/18 | - | 1 |
| 5-96358072-T-G | c.2445T>G | p.S815= | Synonymous | 14/18 | - | 1 |
| 5-96358073-A-G | c.2446A>G | p.M816V | Missense | 14/18 | - | 2 |
| 5-96358075-G-A | c.2448G>A | p.M816I | Missense | 14/18 | - | 1 |
| 5-96358076-C-T | c.2449C>T | p.R817* | Nonsense | 14/18 | - | 1 |
| 5-96358077-G-A | c.2450G>A | p.R817Q | Missense | 14/18 | - | 1 |
| 5-96358081-G-A | c.2454G>A | p.E818= | Synonymous | 14/18 | - | 2 |
| 5-96358082-C-T | c.2455C>T | p.L819F | Missense | 14/18 | - | 2 |
| 5-96358086-G-A | c.2459G>A | p.R820Q | Missense | 14/18 | - | 1 |
| 5-96358089-C-T | c.2462C>T | p.S821L | Missense | 14/18 | - | 1 |
| 5-96358090-A-C | c.2463A>C | p.S821= | Synonymous | 14/18 | - | 1 |
| 5-96358090-A-G | c.2463A>G | p.S821= | Synonymous | 14/18 | - | 2 |
| 5-96358090-A-T | c.2463A>T | p.S821= | Synonymous | 14/18 | - | 1 |
| 5-96358091-G-T | c.2464G>T | p.A822S | Missense | 14/18 | - | 1 |
| 5-96358092-C-T | c.2465C>T | p.A822V | Missense | 14/18 | - | 8 |
| 5-96358094-C-G | c.2467C>G | p.L823V | Missense | 14/18 | - | 1 |
| 5-96358107-C-G | c.2480C>G | p.A827G | Missense | 14/18 | - | 1 |
| 5-96358110-G-A | c.2483G>A | p.C828Y | Missense | 14/18 | - | 1 |
| 5-96358122-T-G | c.2495T>G | p.L832R | Missense | 14/18 | - | 1 |
| 5-96358125-G-C | c.2498G>C | p.G833A | Missense | 14/18 | - | 1 |
| 5-96358148-A-G | c.2521A>G | p.K841E | Missense | 14/18 | - | 1 |
| 5-96358149-A-C | c.2522A>C | p.K841T | Missense | 14/18 | - | 1 |
| 5-96358152-T-G | c.2525T>G | p.L842R | Missense | 14/18 | - | 1 |
| 5-96358154-T-C | c.2527T>C | p.F843L | Missense | 14/18 | - | 2 |
| 5-96358156-T-A | c.2529T>A | p.F843L | Missense | 14/18 | - | 2 |
| 5-96358156-T-G | c.2529T>G | p.F843L | Missense | 14/18 | - | 2 |
| 5-96358157-G-A | c.2530G>A | p.D844N | Missense | 14/18 | - | 1 |
| 5-96358162-C-A | c.2535C>A | p.D845E | Missense | 14/18 | - | 1 |
| 5-96358162-C-G | c.2535C>G | p.D845E | Missense | 14/18 | - | 1 |
| 5-96358164-G-A | c.2537G>A | p.W846* | Nonsense | 14/18 | - | 1 |
| 5-96358165-G-A | c.2538G>A | p.W846* | Nonsense | 14/18 | - | 1 |
| 5-96358169-G-A | c.2542G>A | p.A848T | Missense | 14/18 | - | 1 |
| 5-96358171-A-C | c.2544A>C | p.A848= | Synonymous | 14/18 | - | 1 |
| 5-96358171-A-G | c.2544A>G | p.A848= | Synonymous | 14/18 | - | 1 |
| 5-96358171-A-T | c.2544A>T | p.A848= | Synonymous | 14/18 | - | 1 |
| 5-96358176-A-G | c.2549A>G | p.N850S | Missense | 14/18 | - | 1 |
| 5-96358178-G-T | c.2551G>T | p.G851* | Nonsense | 14/18 | - | 1 |
| 5-96358179-G-C | c.2552G>C | p.G851A | Missense | 14/18 | - | 2 |
| 5-96358340-CT-C | c.2561+165del | - | IntronicDeletion | - | 14/17 | 1 |
| 5-96358687-C-G | c.2561+499C>G | - | IntronicSNV | - | 14/17 | 2 |
| 5-96358687-C-T | c.2561+499C>T | - | IntronicSNV | - | 14/17 | 2 |
| 5-96359912-A-G | c.2562-313A>G | - | IntronicSNV | - | 14/17 | 1 |
| 5-96360250-G-A | c.2587G>A | p.V863M | Missense | 15/18 | - | 2 |
| 5-96360266-CA-C | c.2608del | p.T870Lfs*15 | Frameshift | 15/18 | - | 1 |
| 5-96360281-GC-AG | c.2618_2619delinsAG | p.G873E | Missense | 15/18 | - | 1 |
| 5-96360286-T-C | c.2623T>C | p.S875P | Missense | 15/18 | - | 1 |
| 5-96360289-T-C | c.2626T>C | p.F876L | Missense | 15/18 | - | 1 |
| 5-96360291-C-A | c.2628C>A | p.F876L | Missense | 15/18 | - | 1 |
| 5-96360291-C-G | c.2628C>G | p.F876L | Missense | 15/18 | - | 1 |
| 5-96360291-C-T | c.2628C>T | p.F876= | Synonymous | 15/18 | - | 3 |
| 5-96360292-C-A | c.2629C>A | p.L877I | Missense | 15/18 | - | 2 |
| 5-96360301-A-G | c.2638A>G | p.K880E | Missense | 15/18 | - | 1 |
| 5-96360311-C-A | c.2648C>A | p.S883Y | Missense | 15/18 | - | 5 |
| 5-96360311-C-T | c.2648C>T | p.S883F | Missense | 15/18 | - | 1 |
| 5-96360328-G-A | c.2665G>A | p.E889K | Missense | 15/18 | - | 1 |
| 5-96360336-C-T | c.2673C>T | p.N891= | Synonymous | 15/18 | - | 1 |
| 5-96360340-A-C | c.2677A>C | p.I893L | Missense | 15/18 | - | 2 |
| 5-96360349-G-A | c.2686G>A | p.A896T | Missense | 15/18 | - | 1 |
| 5-96360351-A-C | c.2688A>C | p.A896= | Synonymous | 15/18 | - | 1 |
| 5-96360351-A-G | c.2688A>G | p.A896= | Synonymous | 15/18 | - | 1 |
| 5-96360351-A-T | c.2688A>T | p.A896= | Synonymous | 15/18 | - | 1 |
| 5-96360362-C-A | c.2699C>A | p.S900* | Nonsense | 15/18 | - | 1 |
| 5-96360362-C-G | c.2699C>G | p.S900* | Nonsense | 15/18 | - | 1 |
| 5-96360388-T-C | c.2723+2T>C | - | IntronicSNV | - | 15/17 | 1 |
| 5-96360443-C-T | c.2723+57C>T | - | IntronicSNV | - | 15/17 | 1 |
| 5-96361333-T-C | c.2723+947T>C | - | IntronicSNV | - | 15/17 | 2 |
| 5-96361626-C-T | c.2724-695C>T | - | IntronicSNV | - | 15/17 | 1 |
| 5-96362335-G-C | c.2738G>C | p.S913T | Missense | 16/18 | - | 3 |
| 5-96362346-G-T | c.2749G>T | p.D917Y | Missense | 16/18 | - | 1 |
| 5-96362354-C-G | c.2757C>G | p.F919L | Missense | 16/18 | - | 1 |
| 5-96362355-C-T | c.2758C>T | p.R920* | Nonsense | 16/18 | - | 3 |
| 5-96362356-G-A | c.2759G>A | p.R920Q | Missense | 16/18 | - | 1 |
| 5-96362362-A-G | c.2765A>G | p.Q922R | Missense | 16/18 | - | 1 |
| 5-96362364-A-T | c.2767A>T | p.K923* | Nonsense | 16/18 | - | 1 |
| 5-96362377-T-C | c.2780T>C | p.I927T | Missense | 16/18 | - | 1 |
| 5-96362385-A-G | c.2788A>G | p.T930A | Missense | 16/18 | - | 1 |
| 5-96362386-C-A | c.2789C>A | p.T930K | Missense | 16/18 | - | 1 |
| 5-96362389-T-C | c.2792T>C | p.V931A | Missense | 16/18 | - | 1 |
| 5-96362392-G-A | c.2795G>A | p.G932D | Missense | 16/18 | - | 1 |
| 5-96362394-C-T | c.2797C>T | p.R933* | Nonsense | 16/18 | - | 2 |
| 5-96362403-C-T | c.2806C>T | p.P936S | Missense | 16/18 | - | 1 |
| 5-96362406-G-A | c.2809G>A | p.G937R | Missense | 16/18 | - | 1 |
| 5-96362418-G-T | c.2821G>T | p.A941S | Missense | 16/18 | - | 1 |
| 5-96362434-A-G | c.2837A>G | p.K946R | Missense | 16/18 | - | 1 |
| 5-96362436-G-A | c.2839G>A | p.E947K | Missense | 16/18 | - | 1 |
| 5-96362455-T-C | c.2858T>C | p.V953A | Missense | 16/18 | - | 1 |
| 5-96362468-T-A | c.2864+7T>A | - | IntronicSNV | - | 16/17 | 1 |
| 5-96362578-A-G | c.2864+117A>G | - | IntronicSNV | - | 16/17 | 1 |
| 5-96362800-T-A | c.2864+339T>A | - | IntronicSNV | - | 16/17 | 2 |
| 5-96362800-T-G | c.2864+339T>G | - | IntronicSNV | - | 16/17 | 2 |
| 5-96363051-C-A | c.2865-386C>A | - | IntronicSNV | - | 16/17 | 2 |
| 5-96363051-C-T | c.2865-386C>T | - | IntronicSNV | - | 16/17 | 2 |
| 5-96363407-C-T | c.2865-30C>T | - | IntronicSNV | - | 16/17 | 11 |
| 5-96363448-G-A | c.2876G>A | p.G959E | Missense | 17/18 | - | 3 |
| 5-96363451-C-T | c.2879C>T | p.S960F | Missense | 17/18 | - | 1 |
| 5-96363452-C-A | c.2880C>A | p.S960= | Synonymous | 17/18 | - | 1 |
| 5-96363454-A-G | c.2882A>G | p.Y961C | Missense | 17/18 | - | 2 |
| 5-96363459-A-G | c.2887A>G | p.I963V | Missense | 17/18 | - | 19 |
| 5-96363459-A-T | c.2887A>T | p.I963L | Missense | 17/18 | - | 3 |
| 5-96363461-A-C | c.2889A>C | p.I963= | Synonymous | 17/18 | - | 1 |
| 5-96363461-A-G | c.2889A>G | p.I963M | Missense | 17/18 | - | 3 |
| 5-96363461-A-T | c.2889A>T | p.I963= | Synonymous | 17/18 | - | 1 |
| 5-96363466-A-G | c.2894A>G | p.N965S | Missense | 17/18 | - | 2 |
| 5-96363475-C-T | c.2903C>T | p.A968V | Missense | 17/18 | - | 1 |
| 5-96363481-C-T | c.2909C>T | p.S970L | Missense | 17/18 | - | 1 |
| 5-96363483-A-G | c.2911A>G | p.T971A | Missense | 17/18 | - | 1 |
| 5-96363483-A-T | c.2911A>T | p.T971S | Missense | 17/18 | - | 1 |
| 5-96363487-A-G | c.2915A>G | p.Y972C | Missense | 17/18 | - | 1 |
| 5-96363492-T-C | c.2920T>C | p.F974L | Missense | 17/18 | - | 1 |
| 5-96363494-T-A | c.2922T>A | p.F974L | Missense | 17/18 | - | 1 |
| 5-96363494-T-G | c.2922T>G | p.F974L | Missense | 17/18 | - | 1 |
| 5-96363496-CAACA-C | c.2927_2930del | p.T976Rfs*33 | Frameshift | 17/18 | - | 1 |
| 5-96363505-C-T | c.2933C>T | p.T978I | Missense | 17/18 | - | 1 |
| 5-96363516-G-A | c.2944G>A | p.E982K | Missense | 17/18 | - | 2 |
| 5-96363530-A-G | c.2946+12A>G | - | IntronicSNV | - | 17/17 | 1 |
| 5-96364063-C-T | c.2947-43C>T | - | IntronicSNV | - | 17/17 | 8 |
| 5-96364109-C-T | c.2950C>T | p.Q984* | Nonsense | 18/18 | - | 1 |
| 5-96364112-G-T | c.2953G>T | p.A985S | Missense | 18/18 | - | 1 |
| 5-96364119-T-A | c.2960T>A | p.F987Y | Missense | 18/18 | - | 2 |
| 5-96364122-A-C | c.2963A>C | p.E988A | Missense | 18/18 | - | 1 |
| 5-96364127-C-T | c.2968C>T | p.Q990* | Nonsense | 18/18 | - | 1 |
| 5-96364125-ATCAG-A | c.2971_2974del | p.S991Rfs*18 | Frameshift | 18/18 | - | 1 |
| 5-96364136-G-A | c.2977G>A | p.A993T | Missense | 18/18 | - | 1 |
| 5-96364141-C-T | c.2982C>T | p.T994= | Synonymous | 18/18 | - | 2 |
| 5-96364146-G-A | c.2987G>A | p.R996Q | Missense | 18/18 | - | 1 |
| 5-96364148-C-G | c.2989C>G | p.L997V | Missense | 18/18 | - | 1 |
| 5-96364151-C-T | c.2992C>T | p.R998C | Missense | 18/18 | - | 15 |
| 5-96364152-G-A | c.2993G>A | p.R998H | Missense | 18/18 | - | 1 |
| 5-96364162-G-C | c.3003G>C | p.Q1001H | Missense | 18/18 | - | 1 |
| 5-96364162-G-T | c.3003G>T | p.Q1001H | Missense | 18/18 | - | 1 |
| 5-96364164-A-C | c.3005A>C | p.E1002A | Missense | 18/18 | - | 1 |
| 5-96364164-A-G | c.3005A>G | p.E1002G | Missense | 18/18 | - | 1 |
| 5-96364165-AGGC-A | c.3006_3008del | p.E1002_A1003delinsD | MultiAAMissense | 18/18 | - | 1 |
| 5-96364173-A-G | c.3014A>G | p.E1005G | Missense | 18/18 | - | 1 |
| 5-96364179-ATT-A | c.3020_3021del | p.I1007Tfs*35 | Frameshift | 18/18 | - | 1 |
| 5-96364182-A-G | c.3023A>G | p.Q1008R | Missense | 18/18 | - | 1 |
| 5-96364184-T-C | c.3025T>C | p.L1009= | Synonymous | 18/18 | - | 1 |
| 5-96364202-GAGA-G | c.3048_3050del | p.K1016del | InFrameDeletion | 18/18 | - | 1 |
| 5-96364207-G-C | c.3048G>C | p.K1016N | Missense | 18/18 | - | 3 |
| 5-96364210-C-T | c.3051C>T | p.N1017= | Synonymous | 18/18 | - | 2 |
| 5-96364211-C-T | c.3052C>T | p.L1018F | Missense | 18/18 | - | 1 |
| 5-96364213-C-A | c.3054C>A | p.L1018= | Synonymous | 18/18 | - | 1 |
| 5-96364213-C-G | c.3054C>G | p.L1018= | Synonymous | 18/18 | - | 1 |
| 5-96364213-C-T | c.3054C>T | p.L1018= | Synonymous | 18/18 | - | 1 |
| 5-96364215-A-G | c.3056A>G | p.K1019R | Missense | 18/18 | - | 1 |
| 5-96364222-C-A | c.3063C>A | p.L1021= | Synonymous | 18/18 | - | 1 |
| 5-96364222-C-G | c.3063C>G | p.L1021= | Synonymous | 18/18 | - | 1 |
| 5-96364222-C-T | c.3063C>T | p.L1021= | Synonymous | 18/18 | - | 1 |
| 5-96364236-A-T | c.3077A>T | p.*1026Lext*82 | Missense | 18/18 | - | 1 |
| 5-96364298-C-T | c.*61C>T | - | 3-UTRSNV | 18/18 | - | 1 |
| 5-96364454-C-A | c.*217C>A | - | 3-UTRSNV | 18/18 | - | 11 |
| 5-96364454-C-G | c.*217C>G | - | 3-UTRSNV | 18/18 | - | 11 |
| 5-96364645-T-C | c.*408T>C | - | 3-UTRSNV | 18/18 | - | 1 |
| 5-96364738-T-A | c.*501T>A | - | 3-UTRSNV | 18/18 | - | 1 |
| 5-96364831-G-T | c.*594G>T | - | 3-UTRSNV | 18/18 | - | 2 |
| 5-96364851-C-T | c.*614C>T | - | 3-UTRSNV | 18/18 | - | 1 |
| 5-96364932-G-T | c.*695G>T | - | 3-UTRSNV | 18/18 | - | 1 |
| 5-96366326-G-C | c.*2089G>C | - | IntergenicSNV | 18/18 | - | 1 |
| 5-96366328-G-C | c.*2091G>C | - | IntergenicSNV | 18/18 | - | 1 |
| 5-96366328-G-T | c.*2091G>T | - | IntergenicSNV | 18/18 | - | 1 |
| 5-96367408-G-A | c.*3171G>A | - | IntergenicSNV | 18/18 | - | 3 |
| 5-96370879-G-A | c.*6642G>A | - | IntergenicSNV | 18/18 | - | 1 |
| 5-96372165-G-A | c.*7928G>A | - | IntergenicSNV | 18/18 | - | 7 |
| 5-96372702-G-A | c.*8465G>A | - | IntergenicSNV | 18/18 | - | 1 |