| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 5-33986409-C-G | c.*2789G>C | - | IntergenicSNV | 5/5 | - | 12 |
| 5-33986409-C-T | c.*2789G>A | - | IntergenicSNV | 5/5 | - | 12 |
| 5-33987394-C-A | c.*1804G>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33988054-T-C | c.*1144A>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33988128-G-A | c.*1070C>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33988451-A-G | c.*747T>C | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33988466-C-A | c.*732G>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33988535-C-T | c.*663G>A | - | 3-UTRSNV | 5/5 | - | 6 |
| 5-33988581-C-A | c.*617G>T | - | 3-UTRSNV | 5/5 | - | 5 |
| 5-33988971-A-C | c.*227T>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33989188-G-A | c.*10C>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 5-33989200-TAGA-T | c.1145_1147del | p.L382_*383delinsQ | MultiAAMissense | 5/5 | - | 1 |
| 5-33989208-G-A | c.1139C>T | p.A380V | Missense | 5/5 | - | 6 |
| 5-33989209-C-T | c.1138G>A | p.A380T | Missense | 5/5 | - | 1 |
| 5-33989209-GC-G | c.1138del | p.A380Lfs*22 | Frameshift | 5/5 | - | 1 |
| 5-33989210-T-A | c.1137A>T | p.K379N | Missense | 5/5 | - | 1 |
| 5-33989210-T-G | c.1137A>C | p.K379N | Missense | 5/5 | - | 1 |
| 5-33989212-T-C | c.1135A>G | p.K379E | Missense | 5/5 | - | 1 |
| 5-33989209-CT-C | c.1137del | p.A380Lfs*22 | Frameshift | 5/5 | - | 1 |
| 5-33989220-T-C | c.1127A>G | p.N376S | Missense | 5/5 | - | 1 |
| 5-33989221-T-C | c.1126A>G | p.N376D | Missense | 5/5 | - | 2 |
| 5-33989223-C-A | c.1124G>T | p.S375I | Missense | 5/5 | - | 1 |
| 5-33989223-C-T | c.1124G>A | p.S375N | Missense | 5/5 | - | 1 |
| 5-33989223-CT-AA | c.1123_1124delinsTT | p.S375F | Missense | 5/5 | - | 3 |
| 5-33989223-CT-GC | c.1123_1124delinsGC | p.S375A | Missense | 5/5 | - | 1 |
| 5-33989224-T-C | c.1123A>G | p.S375G | Missense | 5/5 | - | 1 |
| 5-33989225-T-A | c.1122A>T | p.E374D | Missense | 5/5 | - | 1 |
| 5-33989225-T-G | c.1122A>C | p.E374D | Missense | 5/5 | - | 1 |
| 5-33989226-T-A | c.1121A>T | p.E374V | Missense | 5/5 | - | 1 |
| 5-33989226-T-C | c.1121A>G | p.E374G | Missense | 5/5 | - | 1 |
| 5-33989227-C-G | c.1120G>C | p.E374Q | Missense | 5/5 | - | 1 |
| 5-33989233-T-C | c.1114A>G | p.I372V | Missense | 5/5 | - | 1 |
| 5-33989240-T-A | c.1107A>T | p.S369= | Synonymous | 5/5 | - | 1 |
| 5-33989240-T-C | c.1107A>G | p.S369= | Synonymous | 5/5 | - | 1 |
| 5-33989240-T-G | c.1107A>C | p.S369= | Synonymous | 5/5 | - | 1 |
| 5-33989240-TG-AA | c.1106_1107delinsTT | p.S369F | Missense | 5/5 | - | 4 |
| 5-33989240-TG-AT | c.1106_1107delinsAT | p.S369Y | Missense | 5/5 | - | 1 |
| 5-33989241-G-A | c.1106C>T | p.S369L | Missense | 5/5 | - | 1 |
| 5-33989242-A-C | c.1105T>G | p.S369A | Missense | 5/5 | - | 1 |
| 5-33989247-A-T | c.1100T>A | p.L367H | Missense | 5/5 | - | 1 |
| 5-33989253-T-C | c.1094A>G | p.Y365C | Missense | 5/5 | - | 1 |
| 5-33989253-T-G | c.1094A>C | p.Y365S | Missense | 5/5 | - | 2 |
| 5-33989257-T-A | c.1090A>T | p.I364F | Missense | 5/5 | - | 1 |
| 5-33989258-C-A | c.1089G>T | p.E363D | Missense | 5/5 | - | 1 |
| 5-33989261-T-A | c.1086A>T | p.E362D | Missense | 5/5 | - | 1 |
| 5-33989263-C-T | c.1084G>A | p.E362K | Missense | 5/5 | - | 7 |
| 5-33989265-C-T | c.1082G>A | p.R361H | Missense | 5/5 | - | 1 |
| 5-33989266-G-T | c.1081C>A | p.R361S | Missense | 5/5 | - | 1 |
| 5-33989267-G-A | c.1080C>T | p.S360= | Synonymous | 5/5 | - | 1 |
| 5-33989271-A-G | c.1076T>C | p.F359S | Missense | 5/5 | - | 1 |
| 5-33989273-TCC-ACA | c.1072_1074delinsTGT | p.G358C | Missense | 5/5 | - | 1 |
| 5-33989273-TCC-GCT | c.1072_1074delinsAGC | p.G358S | Missense | 5/5 | - | 1 |
| 5-33989274-C-T | c.1073G>A | p.G358E | Missense | 5/5 | - | 2 |
| 5-33989281-C-A | c.1066G>T | p.E356* | Nonsense | 5/5 | - | 1 |
| 5-33989281-C-T | c.1066G>A | p.E356K | Missense | 5/5 | - | 1 |
| 5-33989284-C-G | c.1063G>C | p.E355Q | Missense | 5/5 | - | 1 |
| 5-33989292-T-C | c.1055A>G | p.E352G | Missense | 5/5 | - | 1 |
| 5-33989293-C-G | c.1054G>C | p.E352Q | Missense | 5/5 | - | 1 |
| 5-33989295-T-G | c.1052A>C | p.E351A | Missense | 5/5 | - | 1 |
| 5-33989297-AG-CA | c.1049_1050delinsTG | p.T350M | Missense | 5/5 | - | 1 |
| 5-33989298-G-A | c.1049C>T | p.T350I | Missense | 5/5 | - | 4 |
| 5-33989298-G-T | c.1049C>A | p.T350N | Missense | 5/5 | - | 1 |
| 5-33989299-T-C | c.1048A>G | p.T350A | Missense | 5/5 | - | 1 |
| 5-33989302-G-A | c.1045C>T | p.H349Y | Missense | 5/5 | - | 1 |
| 5-33989305-C-A | c.1042G>T | p.E348* | Nonsense | 5/5 | - | 1 |
| 5-33989305-C-T | c.1042G>A | p.E348K | Missense | 5/5 | - | 1 |
| 5-33989307-C-G | c.1040G>C | p.G347A | Missense | 5/5 | - | 3 |
| 5-33989306-T-TC | c.1040dup | p.E348Rfs*4 | Frameshift | 5/5 | - | 1 |
| 5-33989308-C-T | c.1039G>A | p.G347R | Missense | 5/5 | - | 1 |
| 5-33989316-G-A | c.1031C>T | p.P344L | Missense | 5/5 | - | 1 |
| 5-33989317-G-A | c.1030C>T | p.P344S | Missense | 5/5 | - | 2 |
| 5-33989317-G-T | c.1030C>A | p.P344T | Missense | 5/5 | - | 1 |
| 5-33989320-C-A | c.1027G>T | p.D343Y | Missense | 5/5 | - | 2 |
| 5-33989320-C-G | c.1027G>C | p.D343H | Missense | 5/5 | - | 1 |
| 5-33989322-C-T | c.1025G>A | p.R342K | Missense | 5/5 | - | 3 |
| 5-33989325-TT-GC | c.1021_1022delinsGC | p.K341A | Missense | 5/5 | - | 1 |
| 5-33989331-G-A | c.1016C>T | p.S339F | Missense | 5/5 | - | 1 |
| 5-33989334-G-T | c.1013C>A | p.P338H | Missense | 5/5 | - | 1 |
| 5-33989336-G-A | c.1011C>T | p.I337= | Synonymous | 5/5 | - | 1 |
| 5-33989336-G-T | c.1011C>A | p.I337= | Synonymous | 5/5 | - | 1 |
| 5-33989338-T-A | c.1009A>T | p.I337F | Missense | 5/5 | - | 1 |
| 5-33989338-T-C | c.1009A>G | p.I337V | Missense | 5/5 | - | 4 |
| 5-33989340-G-A | c.1007C>T | p.A336V | Missense | 5/5 | - | 3 |
| 5-33989341-C-A | c.1006G>T | p.A336S | Missense | 5/5 | - | 1 |
| 5-33989341-C-T | c.1006G>A | p.A336T | Missense | 5/5 | - | 2 |
| 5-33989344-G-A | c.1003C>T | p.P335S | Missense | 5/5 | - | 1 |
| 5-33989344-G-T | c.1003C>A | p.P335T | Missense | 5/5 | - | 1 |
| 5-33989345-GG-CT | c.1001_1002delinsAG | p.T334K | Missense | 5/5 | - | 2 |
| 5-33989346-G-A | c.1001C>T | p.T334I | Missense | 5/5 | - | 5 |
| 5-33989346-G-T | c.1001C>A | p.T334N | Missense | 5/5 | - | 1 |
| 5-33989348-G-A | c.999C>T | p.N333= | Synonymous | 5/5 | - | 1 |
| 5-33989351-TAA-CAT | c.994_996delinsATG | p.L332M | Missense | 5/5 | - | 1 |
| 5-33989353-A-C | c.994T>G | p.L332V | Missense | 5/5 | - | 1 |
| 5-33989354-C-A | c.993G>T | p.L331= | Synonymous | 5/5 | - | 1 |
| 5-33989354-CAG-AAA | c.991_993delinsTTT | p.L331F | Missense | 5/5 | - | 3 |
| 5-33989354-C-G | c.993G>C | p.L331= | Synonymous | 5/5 | - | 1 |
| 5-33989355-AG-GA | c.991_992delinsTC | p.L331S | Missense | 5/5 | - | 1 |
| 5-33989356-G-C | c.991C>G | p.L331V | Missense | 5/5 | - | 1 |
| 5-33989359-G-A | c.988C>T | p.L330= | Synonymous | 5/5 | - | 1 |
| 5-33989362-G-A | c.985C>T | p.P329S | Missense | 5/5 | - | 2 |
| 5-33989362-G-T | c.985C>A | p.P329T | Missense | 5/5 | - | 1 |
| 5-33989367-G-A | c.980C>T | p.P327L | Missense | 5/5 | - | 1 |
| 5-33989368-G-A | c.979C>T | p.P327S | Missense | 5/5 | - | 2 |
| 5-33989368-G-T | c.979C>A | p.P327T | Missense | 5/5 | - | 1 |
| 5-33989370-C-T | c.977G>A | p.R326H | Missense | 5/5 | - | 5 |
| 5-33989371-G-T | c.976C>A | p.R326S | Missense | 5/5 | - | 1 |
| 5-33989374-G-A | c.973C>T | p.P325S | Missense | 5/5 | - | 2 |
| 5-33989376-C-G | c.971G>C | p.S324T | Missense | 5/5 | - | 1 |
| 5-33989376-CT-AA | c.970_971delinsTT | p.S324F | Missense | 5/5 | - | 1 |
| 5-33989377-T-C | c.970A>G | p.S324G | Missense | 5/5 | - | 1 |
| 5-33989378-CAC-AAA | c.967_969delinsTTT | p.V323F | Missense | 5/5 | - | 2 |
| 5-33989379-A-C | c.968T>G | p.V323G | Missense | 5/5 | - | 1 |
| 5-33989379-A-G | c.968T>C | p.V323A | Missense | 5/5 | - | 4 |
| 5-33989380-C-A | c.967G>T | p.V323L | Missense | 5/5 | - | 1 |
| 5-33989380-C-T | c.967G>A | p.V323M | Missense | 5/5 | - | 1 |
| 5-33989381-G-A | c.966C>T | p.D322= | Synonymous | 5/5 | - | 5 |
| 5-33989382-T-C | c.965A>G | p.D322G | Missense | 5/5 | - | 2 |
| 5-33989382-TC-AG | c.964_965delinsCT | p.D322L | Missense | 5/5 | - | 1 |
| 5-33989385-T-A | c.962A>T | p.Q321L | Missense | 5/5 | - | 1 |
| 5-33989388-T-A | c.959A>T | p.E320V | Missense | 5/5 | - | 1 |
| 5-33989389-C-T | c.958G>A | p.E320K | Missense | 5/5 | - | 1 |
| 5-33989390-C-A | c.957G>T | p.E319D | Missense | 5/5 | - | 3 |
| 5-33989390-C-G | c.957G>C | p.E319D | Missense | 5/5 | - | 3 |
| 5-33989390-C-T | c.957G>A | p.E319= | Synonymous | 5/5 | - | 1 |
| 5-33989391-T-C | c.956A>G | p.E319G | Missense | 5/5 | - | 1 |
| 5-33989391-T-G | c.956A>C | p.E319A | Missense | 5/5 | - | 1 |
| 5-33989392-C-G | c.955G>C | p.E319Q | Missense | 5/5 | - | 1 |
| 5-33989394-C-G | c.953G>C | p.S318T | Missense | 5/5 | - | 1 |
| 5-33989394-CT-GC | c.952_953delinsGC | p.S318A | Missense | 5/5 | - | 1 |
| 5-33989397-GT-CC | c.949_950delinsGG | p.T317G | Missense | 5/5 | - | 1 |
| 5-33989403-A-G | c.944T>C | p.F315S | Missense | 5/5 | - | 1 |
| 5-33989402-A-C | c.945T>G | p.F315L | Missense | 5/5 | - | 2 |
| 5-33989402-A-T | c.945T>A | p.F315L | Missense | 5/5 | - | 2 |
| 5-33989404-A-G | c.943T>C | p.F315L | Missense | 5/5 | - | 2 |
| 5-33989405-C-T | c.942G>A | p.S314= | Synonymous | 5/5 | - | 2 |
| 5-33989406-G-T | c.941C>A | p.S314* | Nonsense | 5/5 | - | 1 |
| 5-33989409-C-T | c.938G>A | p.G313D | Missense | 5/5 | - | 1 |
| 5-33989410-C-A | c.937G>T | p.G313C | Missense | 5/5 | - | 1 |
| 5-33989410-C-T | c.937G>A | p.G313S | Missense | 5/5 | - | 1 |
| 5-33989408-GCC-G | c.937_938del | p.G313Lfs*6 | Frameshift | 5/5 | - | 1 |
| 5-33989412-C-A | c.935G>T | p.R312L | Missense | 5/5 | - | 1 |
| 5-33989412-C-T | c.935G>A | p.R312Q | Missense | 5/5 | - | 2 |
| 5-33989411-C-A | c.936G>T | p.R312= | Synonymous | 5/5 | - | 1 |
| 5-33989411-C-G | c.936G>C | p.R312= | Synonymous | 5/5 | - | 1 |
| 5-33989411-C-T | c.936G>A | p.R312= | Synonymous | 5/5 | - | 1 |
| 5-33989413-G-A | c.934C>T | p.R312W | Missense | 5/5 | - | 4 |
| 5-33989413-G-T | c.934C>A | p.R312= | Synonymous | 5/5 | - | 1 |
| 5-33989416-C-A | c.931G>T | p.E311* | Nonsense | 5/5 | - | 1 |
| 5-33989419-T-C | c.928A>G | p.K310E | Missense | 5/5 | - | 1 |
| 5-33989420-G-GA | c.926_927insT | p.K310Qfs*10 | Frameshift | 5/5 | - | 1 |
| 5-33989421-T-TTAGAGTGGTAGGACACTGTAATAC | c.925_926insGTATTACAGTGTCCTACCACTCTA | p.H308_N309insSITVSYHS | InFrameInsertion | 5/5 | - | 1 |
| 5-33989425-G-A | c.922C>T | p.H308Y | Missense | 5/5 | - | 2 |
| 5-33989426-A-G | c.921T>C | p.D307= | Synonymous | 5/5 | - | 1 |
| 5-33989428-C-G | c.919G>C | p.D307H | Missense | 5/5 | - | 1 |
| 5-33989429-A-T | c.918T>A | p.H306Q | Missense | 5/5 | - | 1 |
| 5-33989433-T-A | c.914A>T | p.H305L | Missense | 5/5 | - | 4 |
| 5-33989434-G-A | c.913C>T | p.H305Y | Missense | 5/5 | - | 1 |
| 5-33989437-C-T | c.910G>A | p.V304I | Missense | 5/5 | - | 1 |
| 5-33989434-GAAC-G | c.910_912del | p.V304del | InFrameDeletion | 5/5 | - | 1 |
| 5-33989440-C-A | c.907G>T | p.V303F | Missense | 5/5 | - | 1 |
| 5-33989444-C-A | c.903G>T | p.E301D | Missense | 5/5 | - | 3 |
| 5-33989444-C-G | c.903G>C | p.E301D | Missense | 5/5 | - | 2 |
| 5-33989446-C-T | c.901G>A | p.E301K | Missense | 5/5 | - | 1 |
| 5-33989448-A-G | c.899T>C | p.F300S | Missense | 5/5 | - | 1 |
| 5-33989447-A-C | c.900T>G | p.F300L | Missense | 5/5 | - | 1 |
| 5-33989447-A-T | c.900T>A | p.F300L | Missense | 5/5 | - | 1 |
| 5-33989449-A-G | c.898T>C | p.F300L | Missense | 5/5 | - | 1 |
| 5-33989450-A-T | c.897T>A | p.T299= | Synonymous | 5/5 | - | 1 |
| 5-33989451-G-A | c.896C>T | p.T299I | Missense | 5/5 | - | 3 |
| 5-33989451-GT-CA | c.895_896delinsTG | p.T299C | Missense | 5/5 | - | 1 |
| 5-33989452-T-C | c.895A>G | p.T299A | Missense | 5/5 | - | 1 |
| 5-33989456-A-G | c.891T>C | p.V297= | Synonymous | 5/5 | - | 1 |
| 5-33989458-C-A | c.889G>T | p.V297F | Missense | 5/5 | - | 1 |
| 5-33989458-C-T | c.889G>A | p.V297I | Missense | 5/5 | - | 1 |
| 5-33989459-C-T | c.888G>A | p.P296= | Synonymous | 5/5 | - | 1 |
| 5-33989460-G-A | c.887C>T | p.P296L | Missense | 5/5 | - | 1 |
| 5-33989463-G-A | c.884C>T | p.T295I | Missense | 5/5 | - | 4 |
| 5-33989465-C-A | c.882G>T | p.V294= | Synonymous | 5/5 | - | 1 |
| 5-33989465-CAC-AAA | c.880_882delinsTTT | p.V294F | Missense | 5/5 | - | 2 |
| 5-33989465-CAC-GAT | c.880_882delinsATC | p.V294I | Missense | 5/5 | - | 1 |
| 5-33989465-C-G | c.882G>C | p.V294= | Synonymous | 5/5 | - | 1 |
| 5-33989465-C-T | c.882G>A | p.V294= | Synonymous | 5/5 | - | 1 |
| 5-33989466-A-C | c.881T>G | p.V294G | Missense | 5/5 | - | 1 |
| 5-33989466-A-G | c.881T>C | p.V294A | Missense | 5/5 | - | 3 |
| 5-33989467-C-A | c.880G>T | p.V294L | Missense | 5/5 | - | 1 |
| 5-33989467-C-G | c.880G>C | p.V294L | Missense | 5/5 | - | 1 |
| 5-33989469-CA-GT | c.877_878delinsAC | p.C293T | Missense | 5/5 | - | 1 |
| 5-33989469-C-T | c.878G>A | p.C293Y | Missense | 5/5 | - | 1 |
| 5-33989470-A-G | c.877T>C | p.C293R | Missense | 5/5 | - | 4 |
| 5-33989471-GGC-CCA | c.874_876delinsTGG | p.A292W | Missense | 5/5 | - | 1 |
| 5-33989473-C-A | c.874G>T | p.A292S | Missense | 5/5 | - | 4 |
| 5-33989473-C-T | c.874G>A | p.A292T | Missense | 5/5 | - | 2 |
| 5-33989475-T-A | c.872A>T | p.D291V | Missense | 5/5 | - | 2 |
| 5-33989475-T-G | c.872A>C | p.D291A | Missense | 5/5 | - | 1 |
| 5-33989476-C-T | c.871G>A | p.D291N | Missense | 5/5 | - | 1 |
| 5-33989477-TGT-ACA | c.868_870inv | p.T290C | Missense | 5/5 | - | 1 |
| 5-33989478-G-T | c.869C>A | p.T290K | Missense | 5/5 | - | 2 |
| 5-33989481-C-T | c.866G>A | p.G289D | Missense | 5/5 | - | 1 |
| 5-33989482-C-A | c.865G>T | p.G289C | Missense | 5/5 | - | 3 |
| 5-33989482-C-T | c.865G>A | p.G289S | Missense | 5/5 | - | 1 |
| 5-33989483-G-C | c.864C>G | p.D288E | Missense | 5/5 | - | 1 |
| 5-33989483-G-T | c.864C>A | p.D288E | Missense | 5/5 | - | 1 |
| 5-33989487-A-C | c.860T>G | p.F287C | Missense | 5/5 | - | 1 |
| 5-33989488-A-C | c.859T>G | p.F287V | Missense | 5/5 | - | 3 |
| 5-33989490-GA-G | c.857del | p.I286Tfs*9 | Frameshift | 5/5 | - | 1 |
| 5-33989491-T-C | c.856A>G | p.I286V | Missense | 5/5 | - | 1 |
| 5-33989492-T-A | c.855A>T | p.Q285H | Missense | 5/5 | - | 1 |
| 5-33989492-T-G | c.855A>C | p.Q285H | Missense | 5/5 | - | 1 |
| 5-33989494-G-C | c.853C>G | p.Q285E | Missense | 5/5 | - | 1 |
| 5-33989501-C-A | c.846G>T | p.E282D | Missense | 5/5 | - | 3 |
| 5-33989503-C-G | c.844G>C | p.E282Q | Missense | 5/5 | - | 8 |
| 5-33989503-C-T | c.844G>A | p.E282K | Missense | 5/5 | - | 2 |
| 5-33989504-T-A | c.843A>T | p.A281= | Synonymous | 5/5 | - | 1 |
| 5-33989504-T-C | c.843A>G | p.A281= | Synonymous | 5/5 | - | 1 |
| 5-33989504-T-G | c.843A>C | p.A281= | Synonymous | 5/5 | - | 1 |
| 5-33989505-G-A | c.842C>T | p.A281V | Missense | 5/5 | - | 2 |
| 5-33989506-C-A | c.841G>T | p.A281S | Missense | 5/5 | - | 2 |
| 5-33989506-C-T | c.841G>A | p.A281T | Missense | 5/5 | - | 1 |
| 5-33989506-CCTT-C | c.838_840del | p.K280del | InFrameDeletion | 5/5 | - | 1 |
| 5-33989508-T-C | c.839A>G | p.K280R | Missense | 5/5 | - | 2 |
| 5-33989508-T-G | c.839A>C | p.K280T | Missense | 5/5 | - | 1 |
| 5-33989508-TTCG-T | c.836_838del | p.T279del | InFrameDeletion | 5/5 | - | 1 |
| 5-33989511-G-A | c.836C>T | p.T279M | Missense | 5/5 | - | 3 |
| 5-33989516-C-A | c.831G>T | p.E277D | Missense | 5/5 | - | 2 |
| 5-33989516-C-G | c.831G>C | p.E277D | Missense | 5/5 | - | 1 |
| 5-33989517-T-G | c.830A>C | p.E277A | Missense | 5/5 | - | 1 |
| 5-33989518-C-T | c.829G>A | p.E277K | Missense | 5/5 | - | 50 |
| 5-33989519-TGC-ACA | c.826_828delinsTGT | p.A276C | Missense | 5/5 | - | 1 |
| 5-33989521-C-T | c.826G>A | p.A276T | Missense | 5/5 | - | 6 |
| 5-33989523-A-G | c.824T>C | p.F275S | Missense | 5/5 | - | 1 |
| 5-33989526-A-G | c.821T>C | p.V274A | Missense | 5/5 | - | 1 |
| 5-33989529-T-C | c.818A>G | p.D273G | Missense | 5/5 | - | 1 |
| 5-33989531-TGC-AAA | c.814_816delinsTTT | p.A272F | Missense | 5/5 | - | 1 |
| 5-33989532-G-C | c.815C>G | p.A272G | Missense | 5/5 | - | 1 |
| 5-33989534-A-C | c.813T>G | p.F271L | Missense | 5/5 | - | 1 |
| 5-33989537-C-T | c.810G>A | p.K270= | Synonymous | 5/5 | - | 1 |
| 5-33989538-T-C | c.809A>G | p.K270R | Missense | 5/5 | - | 3 |
| 5-33989539-T-A | c.808A>T | p.K270* | Nonsense | 5/5 | - | 1 |
| 5-33989541-T-A | c.806A>T | p.K269M | Missense | 5/5 | - | 1 |
| 5-33989536-ACTT-A | c.808_810del | p.K270del | InFrameDeletion | 5/5 | - | 1 |
| 5-33989544-T-A | c.803A>T | p.K268M | Missense | 5/5 | - | 1 |
| 5-33989544-T-G | c.803A>C | p.K268T | Missense | 5/5 | - | 2 |
| 5-33989547-A-C | c.800T>G | p.M267R | Missense | 5/5 | - | 1 |
| 5-33989547-A-G | c.800T>C | p.M267T | Missense | 5/5 | - | 1 |
| 5-33989548-T-C | c.799A>G | p.M267V | Missense | 5/5 | - | 2 |
| 5-33989550-T-C | c.797A>G | p.E266G | Missense | 5/5 | - | 1 |
| 5-33989550-T-G | c.797A>C | p.E266A | Missense | 5/5 | - | 3 |
| 5-33989551-C-T | c.796G>A | p.E266K | Missense | 5/5 | - | 1 |
| 5-33989555-C-T | c.792G>A | p.W264* | Nonsense | 5/5 | - | 3 |
| 5-33989556-C-T | c.791G>A | p.W264* | Nonsense | 5/5 | - | 2 |
| 5-33989557-A-G | c.790T>C | p.W264R | Missense | 5/5 | - | 8 |
| 5-33989557-A-T | c.790T>A | p.W264R | Missense | 5/5 | - | 5 |
| 5-33989561-A-T | c.786T>A | p.D262E | Missense | 5/5 | - | 1 |
| 5-33989562-T-C | c.785A>G | p.D262G | Missense | 5/5 | - | 1 |
| 5-33989564-C-A | c.783G>T | p.M261I | Missense | 5/5 | - | 3 |
| 5-33989564-C-G | c.783G>C | p.M261I | Missense | 5/5 | - | 2 |
| 5-33989564-C-T | c.783G>A | p.M261I | Missense | 5/5 | - | 3 |
| 5-33989565-A-G | c.782T>C | p.M261T | Missense | 5/5 | - | 4 |
| 5-33989568-C-A | c.779G>T | p.S260I | Missense | 5/5 | - | 1 |
| 5-33989573-C-A | c.774G>T | p.Q258H | Missense | 5/5 | - | 1 |
| 5-33989573-C-G | c.774G>C | p.Q258H | Missense | 5/5 | - | 1 |
| 5-33989575-G-C | c.772C>G | p.Q258E | Missense | 5/5 | - | 1 |
| 5-33989577-T-C | c.770A>G | p.N257S | Missense | 5/5 | - | 1 |
| 5-33989578-T-A | c.769A>T | p.N257Y | Missense | 5/5 | - | 1 |
| 5-33989578-T-C | c.769A>G | p.N257D | Missense | 5/5 | - | 2 |
| 5-33989580-GGAA-G | c.764_766del | p.L255del | InFrameDeletion | 5/5 | - | 1 |
| 5-33989585-T-A | c.762A>T | p.E254D | Missense | 5/5 | - | 1 |
| 5-33989585-T-G | c.762A>C | p.E254D | Missense | 5/5 | - | 1 |
| 5-33989589-T-C | c.758A>G | p.D253G | Missense | 5/5 | - | 3 |
| 5-33989589-T-G | c.758A>C | p.D253A | Missense | 5/5 | - | 2 |
| 5-33989590-C-A | c.757G>T | p.D253Y | Missense | 5/5 | - | 1 |
| 5-33989590-C-T | c.757G>A | p.D253N | Missense | 5/5 | - | 1 |
| 5-33989591-A-T | c.756T>A | p.S252= | Synonymous | 5/5 | - | 3 |
| 5-33989592-G-A | c.755C>T | p.S252F | Missense | 5/5 | - | 1 |
| 5-33989595-T-C | c.752A>G | p.K251R | Missense | 5/5 | - | 1 |
| 5-33989598-A-C | c.749T>G | p.L250R | Missense | 5/5 | - | 1 |
| 5-33989599-G-T | c.748C>A | p.L250I | Missense | 5/5 | - | 1 |
| 5-33989604-A-C | c.743T>G | p.L248R | Missense | 5/5 | - | 1 |
| 5-33989604-AG-CT | c.742_743inv | p.L248S | Missense | 5/5 | - | 1 |
| 5-33989605-G-C | c.742C>G | p.L248V | Missense | 5/5 | - | 1 |
| 5-33989606-T-G | c.741A>C | p.G247= | Synonymous | 5/5 | - | 1 |
| 5-33989607-C-A | c.740G>T | p.G247V | Missense | 5/5 | - | 2 |
| 5-33989713-A-C | c.740-106T>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33991399-A-C | c.740-1792T>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33992529-A-G | c.740-2922T>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33992529-A-T | c.740-2922T>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33993865-G-A | c.740-4258C>T | - | IntronicSNV | - | 4/4 | 1 |
| 5-33993865-G-T | c.740-4258C>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33994116-A-T | c.740-4509T>A | - | IntronicSNV | - | 4/4 | 5 |
| 5-33994182-T-C | c.739+4564A>G | - | IntronicSNV | - | 4/4 | 2 |
| 5-33994226-C-A | c.739+4520G>T | - | IntronicSNV | - | 4/4 | 1 |
| 5-33994316-G-A | c.739+4430C>T | - | IntronicSNV | - | 4/4 | 2 |
| 5-33994316-G-C | c.739+4430C>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33994734-G-A | c.739+4012C>T | - | IntronicSNV | - | 4/4 | 4 |
| 5-33994943-G-C | c.739+3803C>G | - | IntronicSNV | - | 4/4 | 2 |
| 5-33997364-C-G | c.739+1382G>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997373-C-T | c.739+1373G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997381-A-G | c.739+1365T>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997394-G-A | c.739+1352C>T | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997395-G-C | c.739+1351C>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997396-A-C | c.739+1350T>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997399-C-T | c.739+1347G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997405-C-T | c.739+1341G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997409-C-G | c.739+1337G>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997484-C-A | c.739+1262G>T | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997484-C-T | c.739+1262G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997492-A-G | c.739+1254T>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997493-C-T | c.739+1253G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997500-T-C | c.739+1246A>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997500-T-G | c.739+1246A>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997535-T-C | c.739+1211A>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997551-C-A | c.739+1195G>T | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997551-C-G | c.739+1195G>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997555-C-T | c.739+1191G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997571-C-T | c.739+1175G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997597-T-C | c.739+1149A>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997606-A-G | c.739+1140T>C | - | IntronicSNV | - | 4/4 | 1 |
| 5-33997625-T-C | c.739+1121A>G | - | IntronicSNV | - | 4/4 | 1 |
| 5-33998733-GAAGTTCACTTACCTTTGATCAGCAGCTCGT-G | c.722_739+12del | - | SpliceDonorDeletion | 4/5 | 4/4 | 1 |
| 5-33998745-C-T | c.739+1G>A | - | IntronicSNV | - | 4/4 | 1 |
| 5-33998746-C-G | c.739G>C | p.G247R | Missense | 4/5 | - | 2 |
| 5-33998746-C-T | c.739G>A | p.G247R | Missense | 4/5 | - | 3 |
| 5-33998747-T-A | c.738A>T | p.K246N | Missense | 4/5 | - | 1 |
| 5-33998747-T-G | c.738A>C | p.K246N | Missense | 4/5 | - | 1 |
| 5-33998749-T-G | c.736A>C | p.K246Q | Missense | 4/5 | - | 1 |
| 5-33998750-G-A | c.735C>T | p.I245= | Synonymous | 4/5 | - | 1 |
| 5-33998752-T-C | c.733A>G | p.I245V | Missense | 4/5 | - | 2 |
| 5-33998753-CAG-AAA | c.730_732delinsTTT | p.L244F | Missense | 4/5 | - | 1 |
| 5-33998754-A-G | c.731T>C | p.L244P | Missense | 4/5 | - | 1 |
| 5-33998755-G-C | c.730C>G | p.L244V | Missense | 4/5 | - | 2 |
| 5-33998756-C-A | c.729G>T | p.L243= | Synonymous | 4/5 | - | 2 |
| 5-33998756-C-T | c.729G>A | p.L243= | Synonymous | 4/5 | - | 1 |
| 5-33998752-TCAG-T | c.730_732del | p.L244del | InFrameDeletion | 4/5 | - | 3 |
| 5-33998760-T-C | c.725A>G | p.E242G | Missense | 4/5 | - | 1 |
| 5-33998761-C-T | c.724G>A | p.E242K | Missense | 4/5 | - | 2 |
| 5-33998763-T-C | c.722A>G | p.Y241C | Missense | 4/5 | - | 1 |
| 5-33998765-G-C | c.720C>G | p.F240L | Missense | 4/5 | - | 2 |
| 5-33998767-A-C | c.718T>G | p.F240V | Missense | 4/5 | - | 1 |
| 5-33998768-C-A | c.717G>T | p.Q239H | Missense | 4/5 | - | 34 |
| 5-33998768-C-G | c.717G>C | p.Q239H | Missense | 4/5 | - | 8 |
| 5-33998769-T-A | c.716A>T | p.Q239L | Missense | 4/5 | - | 2 |
| 5-33998769-T-C | c.716A>G | p.Q239R | Missense | 4/5 | - | 1 |
| 5-33998771-G-A | c.714C>T | p.P238= | Synonymous | 4/5 | - | 1 |
| 5-33998771-G-C | c.714C>G | p.P238= | Synonymous | 4/5 | - | 1 |
| 5-33998771-G-T | c.714C>A | p.P238= | Synonymous | 4/5 | - | 1 |
| 5-33998772-G-A | c.713C>T | p.P238L | Missense | 4/5 | - | 3 |
| 5-33998773-G-A | c.712C>T | p.P238S | Missense | 4/5 | - | 7 |
| 5-33998775-T-A | c.710A>T | p.E237V | Missense | 4/5 | - | 1 |
| 5-33998775-T-C | c.710A>G | p.E237G | Missense | 4/5 | - | 1 |
| 5-33998777-TAT-AAA | c.706_708delinsTTT | p.I236F | Missense | 4/5 | - | 1 |
| 5-33998779-T-A | c.706A>T | p.I236L | Missense | 4/5 | - | 1 |
| 5-33998779-T-C | c.706A>G | p.I236V | Missense | 4/5 | - | 1 |
| 5-33998779-T-G | c.706A>C | p.I236L | Missense | 4/5 | - | 1 |
| 5-33998781-G-A | c.704C>T | p.A235V | Missense | 4/5 | - | 1 |
| 5-33998784-CC-GT | c.700_701delinsAC | p.G234T | Missense | 4/5 | - | 1 |
| 5-33998786-AAC-CAT | c.697_699delinsATG | p.V233M | Missense | 4/5 | - | 1 |
| 5-33998787-A-C | c.698T>G | p.V233G | Missense | 4/5 | - | 1 |
| 5-33998787-A-G | c.698T>C | p.V233A | Missense | 4/5 | - | 2 |
| 5-33998788-C-A | c.697G>T | p.V233F | Missense | 4/5 | - | 1 |
| 5-33998788-C-T | c.697G>A | p.V233I | Missense | 4/5 | - | 1 |
| 5-33998791-C-T | c.694G>A | p.A232T | Missense | 4/5 | - | 1 |
| 5-33998792-C-T | c.693G>A | p.M231I | Missense | 4/5 | - | 1 |
| 5-33998793-AT-GC | c.691_692delinsGC | p.M231A | Missense | 4/5 | - | 1 |
| 5-33998794-T-C | c.691A>G | p.M231V | Missense | 4/5 | - | 1 |
| 5-33998796-A-T | c.689T>A | p.F230Y | Missense | 4/5 | - | 1 |
| 5-33998795-GA-G | c.689del | p.F230Sfs*7 | Frameshift | 4/5 | - | 1 |
| 5-33998795-G-C | c.690C>G | p.F230L | Missense | 4/5 | - | 2 |
| 5-33998795-G-T | c.690C>A | p.F230L | Missense | 4/5 | - | 2 |
| 5-33998797-A-G | c.688T>C | p.F230L | Missense | 4/5 | - | 2 |
| 5-33998797-A-T | c.688T>A | p.F230I | Missense | 4/5 | - | 1 |
| 5-33998799-T-C | c.686A>G | p.E229G | Missense | 4/5 | - | 1 |
| 5-33998799-T-G | c.686A>C | p.E229A | Missense | 4/5 | - | 1 |
| 5-33998801-CCC-ACA | c.682_684delinsTGT | p.G228C | Missense | 4/5 | - | 1 |
| 5-33998801-CCC-GCT | c.682_684delinsAGC | p.G228S | Missense | 4/5 | - | 3 |
| 5-33998801-CC-GT | c.683_684delinsAC | p.G228D | Missense | 4/5 | - | 1 |
| 5-33998804-A-G | c.681T>C | p.D227= | Synonymous | 4/5 | - | 1 |
| 5-33998804-ATC-CTT | c.679_681delinsAAG | p.D227K | Missense | 4/5 | - | 1 |
| 5-33998808-G-A | c.677C>T | p.A226V | Missense | 4/5 | - | 2 |
| 5-33998809-C-A | c.676G>T | p.A226S | Missense | 4/5 | - | 2 |
| 5-33998811-G-A | c.674C>T | p.T225I | Missense | 4/5 | - | 2 |
| 5-33998811-G-C | c.674C>G | p.T225R | Missense | 4/5 | - | 1 |
| 5-33998812-T-A | c.673A>T | p.T225S | Missense | 4/5 | - | 1 |
| 5-33998812-T-C | c.673A>G | p.T225A | Missense | 4/5 | - | 3 |
| 5-33998813-C-A | c.672G>T | p.R224S | Missense | 4/5 | - | 2 |
| 5-33998814-CT-GC | c.670_671delinsGC | p.R224A | Missense | 4/5 | - | 1 |
| 5-33998815-T-A | c.670A>T | p.R224W | Missense | 4/5 | - | 1 |
| 5-33998819-AAGT-A | c.664_666del | p.T222del | InFrameDeletion | 4/5 | - | 1 |
| 5-33998820-G-T | c.665C>A | p.T222N | Missense | 4/5 | - | 1 |
| 5-33998822-CGT-ACA | c.661_663delinsTGT | p.T221C | Missense | 4/5 | - | 1 |
| 5-33998823-G-A | c.662C>T | p.T221M | Missense | 4/5 | - | 5 |
| 5-33998823-G-T | c.662C>A | p.T221K | Missense | 4/5 | - | 1 |
| 5-33998825-A-G | c.660T>C | p.Y220= | Synonymous | 4/5 | - | 2 |
| 5-33998826-T-C | c.659A>G | p.Y220C | Missense | 4/5 | - | 2 |
| 5-33998828-G-A | c.657C>T | p.F219= | Synonymous | 4/5 | - | 1 |
| 5-33998828-G-C | c.657C>G | p.F219L | Missense | 4/5 | - | 1 |
| 5-33998828-G-T | c.657C>A | p.F219L | Missense | 4/5 | - | 1 |
| 5-33998830-A-G | c.655T>C | p.F219L | Missense | 4/5 | - | 1 |
| 5-33998835-G-A | c.650C>T | p.A217V | Missense | 4/5 | - | 1 |
| 5-33998836-C-A | c.649G>T | p.A217S | Missense | 4/5 | - | 3 |
| 5-33998838-C-G | c.647G>C | p.G216A | Missense | 4/5 | - | 2 |
| 5-33998838-C-T | c.647G>A | p.G216E | Missense | 4/5 | - | 2 |
| 5-33998839-C-T | c.646G>A | p.G216R | Missense | 4/5 | - | 1 |
| 5-33998840-AC-CT | c.644_645delinsAG | p.G215E | Missense | 4/5 | - | 2 |
| 5-33998837-TCCA-T | c.645_647del | p.G216del | InFrameDeletion | 4/5 | - | 1 |
| 5-33998841-C-A | c.644G>T | p.G215V | Missense | 4/5 | - | 1 |
| 5-33998841-C-G | c.644G>C | p.G215A | Missense | 4/5 | - | 3 |
| 5-33998841-C-T | c.644G>A | p.G215D | Missense | 4/5 | - | 1 |
| 5-33998842-C-A | c.643G>T | p.G215C | Missense | 4/5 | - | 7 |
| 5-33998842-C-T | c.643G>A | p.G215S | Missense | 4/5 | - | 2 |
| 5-33998844-T-C | c.641A>G | p.D214G | Missense | 4/5 | - | 1 |
| 5-33998849-C-T | c.636G>A | p.M212I | Missense | 4/5 | - | 2 |
| 5-33998851-T-C | c.634A>G | p.M212V | Missense | 4/5 | - | 1 |
| 5-33998851-T-G | c.634A>C | p.M212L | Missense | 4/5 | - | 1 |
| 5-33998852-G-C | c.633C>G | p.N211K | Missense | 4/5 | - | 1 |
| 5-33998853-T-C | c.632A>G | p.N211S | Missense | 4/5 | - | 1 |
| 5-33998854-T-C | c.631A>G | p.N211D | Missense | 4/5 | - | 1 |
| 5-33998859-C-T | c.626G>A | p.G209E | Missense | 4/5 | - | 1 |
| 5-33998860-C-A | c.625G>T | p.G209* | Nonsense | 4/5 | - | 1 |
| 5-33998860-C-G | c.625G>C | p.G209R | Missense | 4/5 | - | 1 |
| 5-33998860-C-T | c.625G>A | p.G209R | Missense | 4/5 | - | 1 |
| 5-33998861-TC-AT | c.623_624delinsAT | p.R208H | Missense | 4/5 | - | 1 |
| 5-33998862-C-T | c.623G>A | p.R208Q | Missense | 4/5 | - | 2 |
| 5-33998863-G-A | c.622C>T | p.R208* | Nonsense | 4/5 | - | 1 |
| 5-33998863-G-C | c.622C>G | p.R208G | Missense | 4/5 | - | 3 |
| 5-33998862-CGAG-C | c.620_622del | p.P207del | InFrameDeletion | 4/5 | - | 1 |
| 5-33998864-AG-TT | c.620_621delinsAA | p.P207Q | Missense | 4/5 | - | 1 |
| 5-33998865-G-A | c.620C>T | p.P207L | Missense | 4/5 | - | 1 |
| 5-33998865-G-T | c.620C>A | p.P207H | Missense | 4/5 | - | 1 |
| 5-33998866-G-A | c.619C>T | p.P207S | Missense | 4/5 | - | 4 |
| 5-33998866-G-T | c.619C>A | p.P207T | Missense | 4/5 | - | 1 |
| 5-33998867-T-A | c.618A>T | p.A206= | Synonymous | 4/5 | - | 1 |
| 5-33998867-T-C | c.618A>G | p.A206= | Synonymous | 4/5 | - | 1 |
| 5-33998867-T-G | c.618A>C | p.A206= | Synonymous | 4/5 | - | 1 |
| 5-33998868-GC-TT | c.616_617delinsAA | p.A206K | Missense | 4/5 | - | 2 |
| 5-33998876-C-A | c.609G>T | p.L203= | Synonymous | 4/5 | - | 1 |
| 5-33998876-C-G | c.609G>C | p.L203= | Synonymous | 4/5 | - | 1 |
| 5-33998878-G-A | c.607C>T | p.L203= | Synonymous | 4/5 | - | 1 |
| 5-33998879-A-C | c.606T>G | p.S202R | Missense | 4/5 | - | 3 |
| 5-33998879-A-T | c.606T>A | p.S202R | Missense | 4/5 | - | 3 |
| 5-33998881-T-G | c.604A>C | p.S202R | Missense | 4/5 | - | 3 |
| 5-33998880-C-A | c.605G>T | p.S202I | Missense | 4/5 | - | 1 |
| 5-33998880-C-G | c.605G>C | p.S202T | Missense | 4/5 | - | 2 |
| 5-33998880-C-T | c.605G>A | p.S202N | Missense | 4/5 | - | 4 |
| 5-33998880-CT-AG | c.604_605inv | p.S202L | Missense | 4/5 | - | 1 |
| 5-33998881-T-A | c.604A>T | p.S202C | Missense | 4/5 | - | 1 |
| 5-33998882-C-CG | c.602_603insC | p.L201Ffs*53 | Frameshift | 4/5 | - | 1 |
| 5-33998883-A-C | c.602T>G | p.L201W | Missense | 4/5 | - | 18 |
| 5-33998883-A-G | c.602T>C | p.L201S | Missense | 4/5 | - | 51 |
| 5-33998884-A-G | c.601T>C | p.L201= | Synonymous | 4/5 | - | 1 |
| 5-33998885-T-A | c.600A>T | p.K200N | Missense | 4/5 | - | 1 |
| 5-33998885-T-G | c.600A>C | p.K200N | Missense | 4/5 | - | 1 |
| 5-33998889-T-G | c.596A>C | p.Q199P | Missense | 4/5 | - | 1 |
| 5-33998890-TG-T | c.595del | p.Q199Rfs*3 | Frameshift | 4/5 | - | 1 |
| 5-33998892-G-A | c.593C>T | p.T198I | Missense | 4/5 | - | 4 |
| 5-33998893-T-C | c.592A>G | p.T198A | Missense | 4/5 | - | 1 |
| 5-33998895-T-G | c.590A>C | p.K197T | Missense | 4/5 | - | 1 |
| 5-33998896-T-C | c.589A>G | p.K197E | Missense | 4/5 | - | 1 |
| 5-33998898-C-A | c.587G>T | p.W196L | Missense | 4/5 | - | 1 |
| 5-33998898-CA-GC | c.586_587delinsGC | p.W196A | Missense | 4/5 | - | 1 |
| 5-33998906-A-G | c.579T>C | p.S193= | Synonymous | 4/5 | - | 1 |
| 5-33998907-G-A | c.578C>T | p.S193F | Missense | 4/5 | - | 1 |
| 5-33998907-GA-AT | c.577_578delinsAT | p.S193I | Missense | 4/5 | - | 5 |
| 5-33998907-GA-TC | c.577_578inv | p.S193D | Missense | 4/5 | - | 1 |
| 5-33998907-GA-TT | c.577_578delinsAA | p.S193N | Missense | 4/5 | - | 1 |
| 5-33998907-G-T | c.578C>A | p.S193Y | Missense | 4/5 | - | 1 |
| 5-33998908-A-T | c.577T>A | p.S193T | Missense | 4/5 | - | 3 |
| 5-33998910-C-T | c.575G>A | p.S192N | Missense | 4/5 | - | 1 |
| 5-33998910-CT-AA | c.574_575delinsTT | p.S192F | Missense | 4/5 | - | 1 |
| 5-33998910-CT-GC | c.574_575delinsGC | p.S192A | Missense | 4/5 | - | 1 |
| 5-33998918-TGC-AAA | c.565_567delinsTTT | p.A189F | Missense | 4/5 | - | 1 |
| 5-33998919-G-A | c.566C>T | p.A189V | Missense | 4/5 | - | 1 |
| 5-33998919-G-T | c.566C>A | p.A189E | Missense | 4/5 | - | 2 |
| 5-33998922-G-A | c.563C>T | p.T188I | Missense | 4/5 | - | 1 |
| 5-33998924-T-A | c.561A>T | p.G187= | Synonymous | 4/5 | - | 1 |
| 5-33998924-TCC-ACA | c.559_561delinsTGT | p.G187C | Missense | 4/5 | - | 1 |
| 5-33998926-C-T | c.559G>A | p.G187R | Missense | 4/5 | - | 3 |
| 5-33998929-C-A | c.556G>T | p.E186* | Nonsense | 4/5 | - | 3 |
| 5-33998929-C-T | c.556G>A | p.E186K | Missense | 4/5 | - | 1 |
| 5-33998930-CAC-AAA | c.553_555delinsTTT | p.V185F | Missense | 4/5 | - | 2 |
| 5-33998930-CAC-GAT | c.553_555delinsATC | p.V185I | Missense | 4/5 | - | 2 |
| 5-33998931-A-G | c.554T>C | p.V185A | Missense | 4/5 | - | 6 |
| 5-33999079-G-A | c.553-147C>T | - | IntronicSNV | - | 3/4 | 1 |
| 5-33999758-T-C | c.553-826A>G | - | IntronicSNV | - | 3/4 | 1 |
| 5-34000772-C-G | c.553-1840G>C | - | IntronicSNV | - | 3/4 | 1 |
| 5-34000772-C-T | c.553-1840G>A | - | IntronicSNV | - | 3/4 | 1 |
| 5-34001954-G-A | c.552+2725C>T | - | IntronicSNV | - | 3/4 | 1 |
| 5-34004679-C-T | c.552G>A | p.M184I | Missense | 3/5 | - | 1 |
| 5-34004680-A-G | c.551T>C | p.M184T | Missense | 3/5 | - | 4 |
| 5-34004681-T-A | c.550A>T | p.M184L | Missense | 3/5 | - | 1 |
| 5-34004681-T-C | c.550A>G | p.M184V | Missense | 3/5 | - | 1 |
| 5-34004681-T-G | c.550A>C | p.M184L | Missense | 3/5 | - | 1 |
| 5-34004682-A-C | c.549T>G | p.N183K | Missense | 3/5 | - | 1 |
| 5-34004682-A-T | c.549T>A | p.N183K | Missense | 3/5 | - | 1 |
| 5-34004685-TGC-ACA | c.544_546delinsTGT | p.A182C | Missense | 3/5 | - | 1 |
| 5-34004686-G-C | c.545C>G | p.A182G | Missense | 3/5 | - | 1 |
| 5-34004687-C-A | c.544G>T | p.A182S | Missense | 3/5 | - | 3 |
| 5-34004687-C-T | c.544G>A | p.A182T | Missense | 3/5 | - | 2 |
| 5-34004690-C-A | c.541G>T | p.D181Y | Missense | 3/5 | - | 1 |
| 5-34004690-C-T | c.541G>A | p.D181N | Missense | 3/5 | - | 1 |
| 5-34004691-AA-CT | c.539_540delinsAG | p.I180K | Missense | 3/5 | - | 1 |
| 5-34004691-A-T | c.540T>A | p.I180= | Synonymous | 3/5 | - | 1 |
| 5-34004693-T-C | c.538A>G | p.I180V | Missense | 3/5 | - | 2 |
| 5-34004694-GA-CT | c.536_537delinsAG | p.V179E | Missense | 3/5 | - | 1 |
| 5-34004694-TG-T | c.537del | p.I180Lfs*12 | Frameshift | 3/5 | - | 1 |
| 5-34004695-A-C | c.536T>G | p.V179G | Missense | 3/5 | - | 1 |
| 5-34004696-C-T | c.535G>A | p.V179I | Missense | 3/5 | - | 3 |
| 5-34004697-C-G | c.534G>C | p.Q178H | Missense | 3/5 | - | 1 |
| 5-34004700-AC-CT | c.530_531delinsAG | p.G177E | Missense | 3/5 | - | 1 |
| 5-34004702-C-G | c.529G>C | p.G177R | Missense | 3/5 | - | 1 |
| 5-34004704-T-C | c.527A>G | p.K176R | Missense | 3/5 | - | 1 |
| 5-34004707-C-T | c.524G>A | p.G175D | Missense | 3/5 | - | 40 |
| 5-34004708-C-A | c.523G>T | p.G175C | Missense | 3/5 | - | 1 |
| 5-34004708-C-T | c.523G>A | p.G175S | Missense | 3/5 | - | 2 |
| 5-34004710-G-A | c.521C>T | p.T174I | Missense | 3/5 | - | 1 |
| 5-34004710-GT-TC | c.520_521delinsGA | p.T174D | Missense | 3/5 | - | 1 |
| 5-34004712-G-A | c.519C>T | p.R173= | Synonymous | 3/5 | - | 1 |
| 5-34004712-GCG-CTC | c.517_519delinsGAG | p.R173E | Missense | 3/5 | - | 1 |
| 5-34004712-GC-TT | c.518_519delinsAA | p.R173Q | Missense | 3/5 | - | 1 |
| 5-34004713-C-T | c.518G>A | p.R173H | Missense | 3/5 | - | 5 |
| 5-34004714-G-A | c.517C>T | p.R173C | Missense | 3/5 | - | 3 |
| 5-34004714-G-C | c.517C>G | p.R173G | Missense | 3/5 | - | 1 |
| 5-34004715-T-C | c.516A>G | p.T172= | Synonymous | 3/5 | - | 1 |
| 5-34004715-TGT-ACA | c.514_516inv | p.T172C | Missense | 3/5 | - | 1 |
| 5-34004718-G-A | c.513C>T | p.R171= | Synonymous | 3/5 | - | 1 |
| 5-34004718-G-C | c.513C>G | p.R171= | Synonymous | 3/5 | - | 1 |
| 5-34004718-G-T | c.513C>A | p.R171= | Synonymous | 3/5 | - | 1 |
| 5-34004719-C-G | c.512G>C | p.R171P | Missense | 3/5 | - | 1 |
| 5-34004719-C-T | c.512G>A | p.R171H | Missense | 3/5 | - | 6 |
| 5-34004720-G-A | c.511C>T | p.R171C | Missense | 3/5 | - | 5 |
| 5-34004722-T-C | c.509A>G | p.D170G | Missense | 3/5 | - | 1 |
| 5-34004723-C-A | c.508G>T | p.D170Y | Missense | 3/5 | - | 1 |
| 5-34004723-C-T | c.508G>A | p.D170N | Missense | 3/5 | - | 1 |
| 5-34004725-A-G | c.506T>C | p.F169S | Missense | 3/5 | - | 1 |
| 5-34004726-A-G | c.505T>C | p.F169L | Missense | 3/5 | - | 1 |
| 5-34004735-T-C | c.496A>G | p.M166V | Missense | 3/5 | - | 1 |
| 5-34004738-T-C | c.493A>G | p.I165V | Missense | 3/5 | - | 2 |
| 5-34004741-T-C | c.490A>G | p.I164V | Missense | 3/5 | - | 2 |
| 5-34004743-C-CTA | c.487_488insTA | p.G163Vfs*4 | Frameshift | 3/5 | - | 1 |
| 5-34004743-C-G | c.488G>C | p.G163A | Missense | 3/5 | - | 1 |
| 5-34004744-C-G | c.487G>C | p.G163R | Missense | 3/5 | - | 1 |
| 5-34004745-CAG-AAA | c.484_486delinsTTT | p.L162F | Missense | 3/5 | - | 2 |
| 5-34004745-C-T | c.486G>A | p.L162= | Synonymous | 3/5 | - | 1 |
| 5-34004746-A-C | c.485T>G | p.L162R | Missense | 3/5 | - | 1 |
| 5-34004746-A-T | c.485T>A | p.L162Q | Missense | 3/5 | - | 1 |
| 5-34004749-G-A | c.482C>T | p.A161V | Missense | 3/5 | - | 1 |
| 5-34004750-C-A | c.481G>T | p.A161S | Missense | 3/5 | - | 1 |
| 5-34004750-C-T | c.481G>A | p.A161T | Missense | 3/5 | - | 1 |
| 5-34004751-ACA-CAT | c.478_480delinsATG | p.C160M | Missense | 3/5 | - | 1 |
| 5-34004752-C-A | c.479G>T | p.C160F | Missense | 3/5 | - | 1 |
| 5-34004752-CA-GC | c.478_479delinsGC | p.C160A | Missense | 3/5 | - | 1 |
| 5-34004754-C-A | c.477G>T | p.M159I | Missense | 3/5 | - | 2 |
| 5-34004754-C-G | c.477G>C | p.M159I | Missense | 3/5 | - | 2 |
| 5-34004754-C-T | c.477G>A | p.M159I | Missense | 3/5 | - | 3 |
| 5-34004759-G-C | c.472C>G | p.L158V | Missense | 3/5 | - | 1 |
| 5-34004760-G-A | c.471C>T | p.G157= | Synonymous | 3/5 | - | 1 |
| 5-34004760-G-C | c.471C>G | p.G157= | Synonymous | 3/5 | - | 1 |
| 5-34004760-G-T | c.471C>A | p.G157= | Synonymous | 3/5 | - | 1 |
| 5-34004761-C-G | c.470G>C | p.G157A | Missense | 3/5 | - | 1 |
| 5-34004762-C-T | c.469G>A | p.G157S | Missense | 3/5 | - | 1 |
| 5-34004764-C-G | c.467G>C | p.G156A | Missense | 3/5 | - | 1 |
| 5-34004765-C-G | c.466G>C | p.G156R | Missense | 3/5 | - | 1 |
| 5-34004767-C-G | c.464G>C | p.G155A | Missense | 3/5 | - | 1 |
| 5-34004769-A-C | c.462T>G | p.A154= | Synonymous | 3/5 | - | 1 |
| 5-34004769-A-G | c.462T>C | p.A154= | Synonymous | 3/5 | - | 1 |
| 5-34004769-A-T | c.462T>A | p.A154= | Synonymous | 3/5 | - | 1 |
| 5-34004776-T-C | c.455A>G | p.D152G | Missense | 3/5 | - | 1 |
| 5-34004779-G-C | c.452C>G | p.A151G | Missense | 3/5 | - | 2 |
| 5-34004781-C-A | c.450G>T | p.L150= | Synonymous | 3/5 | - | 1 |
| 5-34004781-CAG-AAA | c.448_450delinsTTT | p.L150F | Missense | 3/5 | - | 1 |
| 5-34004786-G-A | c.445C>T | p.L149F | Missense | 3/5 | - | 1 |
| 5-34004786-G-T | c.445C>A | p.L149I | Missense | 3/5 | - | 1 |
| 5-34004788-T-C | c.443A>G | p.N148S | Missense | 3/5 | - | 1 |
| 5-34004790-CAG-AAA | c.439_441delinsTTT | p.L147F | Missense | 3/5 | - | 1 |
| 5-34004793-C-T | c.438G>A | p.P146= | Synonymous | 3/5 | - | 1 |
| 5-34004794-G-A | c.437C>T | p.P146L | Missense | 3/5 | - | 2 |
| 5-34004795-G-A | c.436C>T | p.P146S | Missense | 3/5 | - | 1 |
| 5-34004797-G-A | c.434C>T | p.A145V | Missense | 3/5 | - | 3 |
| 5-34004798-C-A | c.433G>T | p.A145S | Missense | 3/5 | - | 1 |
| 5-34004798-C-T | c.433G>A | p.A145T | Missense | 3/5 | - | 3 |
| 5-34004799-CATA-C | c.430_432del | p.Y144del | InFrameDeletion | 3/5 | - | 3 |
| 5-34004800-T-A | c.431A>T | p.Y144F | Missense | 3/5 | - | 4 |
| 5-34004800-TA-GT | c.430_431delinsAC | p.Y144T | Missense | 3/5 | - | 1 |
| 5-34004801-A-G | c.430T>C | p.Y144H | Missense | 3/5 | - | 1 |
| 5-34004801-A-T | c.430T>A | p.Y144N | Missense | 3/5 | - | 1 |
| 5-34004802-C-G | c.429G>C | p.P143= | Synonymous | 3/5 | - | 1 |
| 5-34004802-C-T | c.429G>A | p.P143= | Synonymous | 3/5 | - | 1 |
| 5-34004803-G-A | c.428C>T | p.P143L | Missense | 3/5 | - | 4 |
| 5-34004804-G-A | c.427C>T | p.P143S | Missense | 3/5 | - | 2 |
| 5-34004806-T-C | c.425A>G | p.N142S | Missense | 3/5 | - | 2 |
| 5-34004808-C-A | c.423G>T | p.E141D | Missense | 3/5 | - | 2 |
| 5-34004808-C-G | c.423G>C | p.E141D | Missense | 3/5 | - | 2 |
| 5-34004808-CTC-GTT | c.421_423delinsAAC | p.E141N | Missense | 3/5 | - | 1 |
| 5-34004809-TCAC-T | c.419_421del | p.G140del | InFrameDeletion | 3/5 | - | 1 |
| 5-34004814-ACT-CTC | c.415_417delinsGAG | p.S139E | Missense | 3/5 | - | 1 |
| 5-34004815-CT-GC | c.415_416delinsGC | p.S139A | Missense | 3/5 | - | 1 |
| 5-34004817-TCT-ACA | c.412_414delinsTGT | p.R138C | Missense | 3/5 | - | 1 |
| 5-34004817-TCT-ATG | c.412_414delinsCAT | p.R138H | Missense | 3/5 | - | 1 |
| 5-34004818-C-G | c.413G>C | p.R138T | Missense | 3/5 | - | 1 |
| 5-34004818-C-T | c.413G>A | p.R138K | Missense | 3/5 | - | 1 |
| 5-34004818-CT-AG | c.412_413inv | p.R138L | Missense | 3/5 | - | 1 |
| 5-34004818-CT-TG | c.412_413delinsCA | p.R138Q | Missense | 3/5 | - | 2 |
| 5-34004819-T-C | c.412A>G | p.R138G | Missense | 3/5 | - | 1 |
| 5-34004821-C-A | c.410G>T | p.G137V | Missense | 3/5 | - | 3 |
| 5-34004821-C-G | c.410G>C | p.G137A | Missense | 3/5 | - | 1 |
| 5-34004821-C-T | c.410G>A | p.G137D | Missense | 3/5 | - | 2 |
| 5-34004822-C-A | c.409G>T | p.G137C | Missense | 3/5 | - | 3 |
| 5-34004822-C-G | c.409G>C | p.G137R | Missense | 3/5 | - | 2 |
| 5-34004822-C-T | c.409G>A | p.G137S | Missense | 3/5 | - | 1 |
| 5-34004824-A-T | c.407T>A | p.I136N | Missense | 3/5 | - | 1 |
| 5-34004825-T-C | c.406A>G | p.I136V | Missense | 3/5 | - | 1 |
| 5-34004825-T-G | c.406A>C | p.I136L | Missense | 3/5 | - | 1 |
| 5-34004826-T-C | c.405A>G | p.K135= | Synonymous | 3/5 | - | 1 |
| 5-34004826-TTT-ATG | c.403_405delinsCAT | p.K135H | Missense | 3/5 | - | 1 |
| 5-34004827-T-C | c.404A>G | p.K135R | Missense | 3/5 | - | 1 |
| 5-34004824-AT-A | c.406del | p.I136Lfs*12 | Frameshift | 3/5 | - | 1 |
| 5-34004829-TG-AA | c.401_402delinsTT | p.S134F | Missense | 3/5 | - | 1 |
| 5-34004829-TG-AC | c.401_402delinsGT | p.S134C | Missense | 3/5 | - | 1 |
| 5-34004832-G-A | c.399C>T | p.L133= | Synonymous | 3/5 | - | 1 |
| 5-34004834-G-A | c.397C>T | p.L133F | Missense | 3/5 | - | 2 |
| 5-34004834-G-T | c.397C>A | p.L133I | Missense | 3/5 | - | 2 |
| 5-34004835-AAC-CCA | c.394_396delinsTGG | p.V132W | Missense | 3/5 | - | 1 |
| 5-34004839-C-A | c.392G>T | p.G131V | Missense | 3/5 | - | 2 |
| 5-34004839-C-G | c.392G>C | p.G131A | Missense | 3/5 | - | 1 |
| 5-34004839-C-T | c.392G>A | p.G131D | Missense | 3/5 | - | 1 |
| 5-34004843-C-T | c.392-4G>A | - | IntronicSNV | - | 2/4 | 1 |
| 5-34005861-C-T | c.391G>A | p.G131S | Missense | 2/5 | - | 1 |
| 5-34005862-CTGA-C | c.388_390del | p.S130del | InFrameDeletion | 2/5 | - | 1 |
| 5-34005862-TG-AC | c.389_390delinsGT | p.S130C | Missense | 2/5 | - | 2 |
| 5-34005863-G-T | c.389C>A | p.S130* | Nonsense | 2/5 | - | 1 |
| 5-34005865-C-A | c.387G>T | p.L129F | Missense | 2/5 | - | 3 |
| 5-34005865-C-G | c.387G>C | p.L129F | Missense | 2/5 | - | 3 |
| 5-34005865-C-T | c.387G>A | p.L129= | Synonymous | 2/5 | - | 1 |
| 5-34005869-G-A | c.383C>T | p.A128V | Missense | 2/5 | - | 4 |
| 5-34005870-C-T | c.382G>A | p.A128T | Missense | 2/5 | - | 1 |
| 5-34005871-C-A | c.381G>T | p.L127F | Missense | 2/5 | - | 2 |
| 5-34005871-CAA-GAT | c.379_381delinsATC | p.L127I | Missense | 2/5 | - | 2 |
| 5-34005871-C-G | c.381G>C | p.L127F | Missense | 2/5 | - | 2 |
| 5-34005872-AA-CT | c.379_380delinsAG | p.L127R | Missense | 2/5 | - | 1 |
| 5-34005871-C-T | c.381G>A | p.L127= | Synonymous | 2/5 | - | 1 |
| 5-34005873-A-G | c.379T>C | p.L127= | Synonymous | 2/5 | - | 1 |
| 5-34005875-T-C | c.377A>G | p.Y126C | Missense | 2/5 | - | 2 |
| 5-34005876-A-C | c.376T>G | p.Y126D | Missense | 2/5 | - | 1 |
| 5-34005877-G-C | c.375C>G | p.N125K | Missense | 2/5 | - | 1 |
| 5-34005877-G-T | c.375C>A | p.N125K | Missense | 2/5 | - | 1 |
| 5-34005878-T-A | c.374A>T | p.N125I | Missense | 2/5 | - | 1 |
| 5-34005878-T-C | c.374A>G | p.N125S | Missense | 2/5 | - | 2 |
| 5-34005879-T-A | c.373A>T | p.N125Y | Missense | 2/5 | - | 1 |
| 5-34005879-T-C | c.373A>G | p.N125D | Missense | 2/5 | - | 1 |
| 5-34005881-A-G | c.371T>C | p.I124T | Missense | 2/5 | - | 1 |
| 5-34005882-T-C | c.370A>G | p.I124V | Missense | 2/5 | - | 2 |
| 5-34005885-C-T | c.367G>A | p.D123N | Missense | 2/5 | - | 3 |
| 5-34005890-C-T | c.362G>A | p.G121D | Missense | 2/5 | - | 1 |
| 5-34005891-C-A | c.361G>T | p.G121C | Missense | 2/5 | - | 1 |
| 5-34005891-C-T | c.361G>A | p.G121S | Missense | 2/5 | - | 2 |
| 5-34005894-C-A | c.358G>T | p.A120S | Missense | 2/5 | - | 1 |
| 5-34005895-T-A | c.357A>T | p.L119F | Missense | 2/5 | - | 1 |
| 5-34005895-T-G | c.357A>C | p.L119F | Missense | 2/5 | - | 1 |
| 5-34005896-A-G | c.356T>C | p.L119S | Missense | 2/5 | - | 2 |
| 5-34005897-A-T | c.355T>A | p.L119I | Missense | 2/5 | - | 3 |
| 5-34005898-CC-AT | c.353_354delinsAT | p.R118H | Missense | 2/5 | - | 2 |
| 5-34005898-CCG-ACA | c.352_354delinsTGT | p.R118C | Missense | 2/5 | - | 1 |
| 5-34005898-CCG-GAT | c.352_354delinsATC | p.R118I | Missense | 2/5 | - | 1 |
| 5-34005899-C-A | c.353G>T | p.R118L | Missense | 2/5 | - | 2 |
| 5-34005899-CG-GT | c.352_353delinsAC | p.R118T | Missense | 2/5 | - | 1 |
| 5-34005899-C-T | c.353G>A | p.R118Q | Missense | 2/5 | - | 4 |
| 5-34005898-C-A | c.354G>T | p.R118= | Synonymous | 2/5 | - | 1 |
| 5-34005898-C-G | c.354G>C | p.R118= | Synonymous | 2/5 | - | 1 |
| 5-34005898-C-T | c.354G>A | p.R118= | Synonymous | 2/5 | - | 1 |
| 5-34005900-G-C | c.352C>G | p.R118G | Missense | 2/5 | - | 1 |
| 5-34005900-G-T | c.352C>A | p.R118= | Synonymous | 2/5 | - | 1 |
| 5-34005902-CA-GT | c.349_350delinsAC | p.C117T | Missense | 2/5 | - | 1 |
| 5-34005902-C-G | c.350G>C | p.C117S | Missense | 2/5 | - | 1 |
| 5-34005903-A-G | c.349T>C | p.C117R | Missense | 2/5 | - | 1 |
| 5-34005903-A-T | c.349T>A | p.C117S | Missense | 2/5 | - | 1 |
| 5-34005908-C-G | c.344G>C | p.S115T | Missense | 2/5 | - | 1 |
| 5-34005908-C-T | c.344G>A | p.S115N | Missense | 2/5 | - | 1 |
| 5-34005908-CT-GC | c.343_344delinsGC | p.S115A | Missense | 2/5 | - | 1 |
| 5-34005910-TCC-ACA | c.340_342delinsTGT | p.G114C | Missense | 2/5 | - | 2 |
| 5-34005911-C-A | c.341G>T | p.G114V | Missense | 2/5 | - | 1 |
| 5-34005911-C-G | c.341G>C | p.G114A | Missense | 2/5 | - | 1 |
| 5-34005912-C-T | c.340G>A | p.G114R | Missense | 2/5 | - | 1 |
| 5-34005914-GA-AT | c.337_338delinsAT | p.S113I | Missense | 2/5 | - | 1 |
| 5-34005918-G-T | c.334C>A | p.Q112K | Missense | 2/5 | - | 1 |
| 5-34005920-C-T | c.332G>A | p.G111D | Missense | 2/5 | - | 1 |
| 5-34005926-C-G | c.326G>C | p.G109A | Missense | 2/5 | - | 1 |
| 5-34005928-A-C | c.324T>G | p.S108R | Missense | 2/5 | - | 2 |
| 5-34005928-A-G | c.324T>C | p.S108= | Synonymous | 2/5 | - | 1 |
| 5-34005928-A-T | c.324T>A | p.S108R | Missense | 2/5 | - | 2 |
| 5-34005930-T-G | c.322A>C | p.S108R | Missense | 2/5 | - | 2 |
| 5-34005931-C-A | c.321G>T | p.L107= | Synonymous | 2/5 | - | 1 |
| 5-34005931-CAG-AAA | c.319_321delinsTTT | p.L107F | Missense | 2/5 | - | 1 |
| 5-34005931-C-G | c.321G>C | p.L107= | Synonymous | 2/5 | - | 1 |
| 5-34005931-C-T | c.321G>A | p.L107= | Synonymous | 2/5 | - | 1 |
| 5-34005932-A-G | c.320T>C | p.L107P | Missense | 2/5 | - | 7 |
| 5-34005933-G-A | c.319C>T | p.L107= | Synonymous | 2/5 | - | 4 |
| 5-34005933-G-C | c.319C>G | p.L107V | Missense | 2/5 | - | 1 |
| 5-34005934-C-T | c.318G>A | p.R106= | Synonymous | 2/5 | - | 1 |
| 5-34005936-T-G | c.316A>C | p.R106= | Synonymous | 2/5 | - | 1 |
| 5-34005935-C-T | c.317G>A | p.R106K | Missense | 2/5 | - | 1 |
| 5-34005938-G-A | c.314C>T | p.A105V | Missense | 2/5 | - | 3 |
| 5-34005939-C-A | c.313G>T | p.A105S | Missense | 2/5 | - | 2 |
| 5-34005939-C-T | c.313G>A | p.A105T | Missense | 2/5 | - | 1 |
| 5-34005945-T-C | c.307A>G | p.I103V | Missense | 2/5 | - | 2 |
| 5-34005945-T-G | c.307A>C | p.I103L | Missense | 2/5 | - | 1 |
| 5-34005947-A-G | c.305T>C | p.L102P | Missense | 2/5 | - | 2 |
| 5-34005947-AG-GC | c.304_305delinsGC | p.L102A | Missense | 2/5 | - | 1 |
| 5-34005948-G-A | c.304C>T | p.L102F | Missense | 2/5 | - | 2 |
| 5-34005948-G-C | c.304C>G | p.L102V | Missense | 2/5 | - | 2 |
| 5-34005950-C-T | c.302G>A | p.R101K | Missense | 2/5 | - | 1 |
| 5-34005950-CT-AG | c.301_302inv | p.R101L | Missense | 2/5 | - | 1 |
| 5-34005950-CT-GG | c.301_302delinsCC | p.R101P | Missense | 2/5 | - | 1 |
| 5-34005952-TG-AT | c.299_300delinsAT | p.P100H | Missense | 2/5 | - | 1 |
| 5-34005954-G-T | c.298C>A | p.P100T | Missense | 2/5 | - | 4 |
| 5-34005955-A-G | c.297T>C | p.N99= | Synonymous | 2/5 | - | 1 |
| 5-34005958-T-A | c.294A>T | p.E98D | Missense | 2/5 | - | 1 |
| 5-34005958-T-G | c.294A>C | p.E98D | Missense | 2/5 | - | 1 |
| 5-34005958-TTC-AAA | c.292_294delinsTTT | p.E98F | Missense | 2/5 | - | 1 |
| 5-34005958-TTC-ACA | c.292_294delinsTGT | p.E98C | Missense | 2/5 | - | 1 |
| 5-34005960-C-T | c.292G>A | p.E98K | Missense | 2/5 | - | 3 |
| 5-34005962-C-A | c.290G>T | p.R97L | Missense | 2/5 | - | 1 |
| 5-34005962-C-G | c.290G>C | p.R97P | Missense | 2/5 | - | 1 |
| 5-34005962-CG-TT | c.289_290delinsAA | p.R97K | Missense | 2/5 | - | 1 |
| 5-34005962-C-T | c.290G>A | p.R97Q | Missense | 2/5 | - | 3 |
| 5-34005963-G-C | c.289C>G | p.R97G | Missense | 2/5 | - | 1 |
| 5-34005964-C-A | c.288G>T | p.Q96H | Missense | 2/5 | - | 1 |
| 5-34005964-C-G | c.288G>C | p.Q96H | Missense | 2/5 | - | 1 |
| 5-34005967-CA-AT | c.284_285delinsAT | p.L95H | Missense | 2/5 | - | 1 |
| 5-34005967-CAG-AAA | c.283_285delinsTTT | p.L95F | Missense | 2/5 | - | 5 |
| 5-34005967-CAG-GAT | c.283_285delinsATC | p.L95I | Missense | 2/5 | - | 1 |
| 5-34005968-A-G | c.284T>C | p.L95P | Missense | 2/5 | - | 1 |
| 5-34005968-AG-GA | c.283_284delinsTC | p.L95S | Missense | 2/5 | - | 1 |
| 5-34005971-AT-TA | c.280_281delinsTA | p.I94Y | Missense | 2/5 | - | 1 |
| 5-34005972-T-C | c.280A>G | p.I94V | Missense | 2/5 | - | 1 |
| 5-34005973-C-A | c.279G>T | p.E93D | Missense | 2/5 | - | 1 |
| 5-34005973-C-G | c.279G>C | p.E93D | Missense | 2/5 | - | 1 |
| 5-34005974-T-G | c.278A>C | p.E93A | Missense | 2/5 | - | 1 |
| 5-34005975-C-T | c.277G>A | p.E93K | Missense | 2/5 | - | 2 |
| 5-34005976-T-C | c.276A>G | p.P92= | Synonymous | 2/5 | - | 2 |
| 5-34005978-G-A | c.274C>T | p.P92S | Missense | 2/5 | - | 4 |
| 5-34005978-G-T | c.274C>A | p.P92T | Missense | 2/5 | - | 1 |
| 5-34005980-C-A | c.272G>T | p.G91V | Missense | 2/5 | - | 1 |
| 5-34005980-CC-GT | c.271_272delinsAC | p.G91T | Missense | 2/5 | - | 1 |
| 5-34005982-CA-AT | c.269_270delinsAT | p.L90H | Missense | 2/5 | - | 1 |
| 5-34005982-CAG-AAA | c.268_270delinsTTT | p.L90F | Missense | 2/5 | - | 1 |
| 5-34005982-CAG-GAT | c.268_270delinsATC | p.L90I | Missense | 2/5 | - | 1 |
| 5-34005982-C-T | c.270G>A | p.L90= | Synonymous | 2/5 | - | 1 |
| 5-34005981-CCAG-C | c.268_270del | p.L90del | InFrameDeletion | 2/5 | - | 1 |
| 5-34005983-A-G | c.269T>C | p.L90P | Missense | 2/5 | - | 1 |
| 5-34005987-G-A | c.265C>T | p.Q89* | Nonsense | 2/5 | - | 1 |
| 5-34005989-A-G | c.263T>C | p.L88P | Missense | 2/5 | - | 1 |
| 5-34005991-T-C | c.261A>G | p.K87= | Synonymous | 2/5 | - | 1 |
| 5-34005993-T-C | c.259A>G | p.K87E | Missense | 2/5 | - | 1 |
| 5-34005994-C-A | c.258G>T | p.E86D | Missense | 2/5 | - | 1 |
| 5-34005994-C-G | c.258G>C | p.E86D | Missense | 2/5 | - | 1 |
| 5-34005996-C-G | c.256G>C | p.E86Q | Missense | 2/5 | - | 1 |
| 5-34005997-C-A | c.255G>T | p.M85I | Missense | 2/5 | - | 2 |
| 5-34005997-CCAT-C | c.253_255del | p.M85del | InFrameDeletion | 2/5 | - | 2 |
| 5-34005997-C-G | c.255G>C | p.M85I | Missense | 2/5 | - | 2 |
| 5-34005997-C-T | c.255G>A | p.M85I | Missense | 2/5 | - | 2 |
| 5-34005999-T-C | c.253A>G | p.M85V | Missense | 2/5 | - | 4 |
| 5-34006000-G-A | c.252C>T | p.V84= | Synonymous | 2/5 | - | 2 |
| 5-34006000-GAC-CAT | c.250_252delinsATG | p.V84M | Missense | 2/5 | - | 1 |
| 5-34006000-G-C | c.252C>G | p.V84= | Synonymous | 2/5 | - | 2 |
| 5-34006000-G-T | c.252C>A | p.V84= | Synonymous | 2/5 | - | 2 |
| 5-34006000-TGAC-T | c.250_252del | p.V84del | InFrameDeletion | 2/5 | - | 1 |
| 5-34006001-AC-CA | c.250_251delinsTG | p.V84C | Missense | 2/5 | - | 1 |
| 5-34006001-A-T | c.251T>A | p.V84D | Missense | 2/5 | - | 1 |
| 5-34006002-C-A | c.250G>T | p.V84F | Missense | 2/5 | - | 4 |
| 5-34006002-C-G | c.250G>C | p.V84L | Missense | 2/5 | - | 1 |
| 5-34006002-C-T | c.250G>A | p.V84I | Missense | 2/5 | - | 2 |
| 5-34006004-C-G | c.248G>C | p.G83A | Missense | 2/5 | - | 1 |
| 5-34006022-G-A | c.248-18C>T | - | IntronicSNV | - | 1/4 | 1 |
| 5-34006022-G-C | c.248-18C>G | - | IntronicSNV | - | 1/4 | 1 |
| 5-34007659-G-A | c.247+219C>T | - | IntronicSNV | - | 1/4 | 1 |
| 5-34007709-A-C | c.247+169T>G | - | IntronicSNV | - | 1/4 | 4 |
| 5-34007709-A-G | c.247+169T>C | - | IntronicSNV | - | 1/4 | 4 |
| 5-34007709-A-T | c.247+169T>A | - | IntronicSNV | - | 1/4 | 4 |
| 5-34007801-T-G | c.247+77A>C | - | IntronicSNV | - | 1/4 | 1 |
| 5-34007879-GCG-CTC | c.244_246delinsGAG | p.R82E | Missense | 1/5 | - | 1 |
| 5-34007883-C-A | c.242G>T | p.R81L | Missense | 1/5 | - | 2 |
| 5-34007883-C-G | c.242G>C | p.R81P | Missense | 1/5 | - | 1 |
| 5-34007883-CG-GT | c.241_242delinsAC | p.R81T | Missense | 1/5 | - | 2 |
| 5-34007883-C-T | c.242G>A | p.R81H | Missense | 1/5 | - | 1 |
| 5-34007884-G-A | c.241C>T | p.R81C | Missense | 1/5 | - | 1 |
| 5-34007884-G-C | c.241C>G | p.R81G | Missense | 1/5 | - | 1 |
| 5-34007886-AA-GC | c.238_239delinsGC | p.F80A | Missense | 1/5 | - | 1 |
| 5-34007887-AAGGGC-A | c.234_238del | p.E78Dfs*62 | Frameshift | 1/5 | - | 1 |
| 5-34007887-A-C | c.238T>G | p.F80V | Missense | 1/5 | - | 1 |
| 5-34007889-G-A | c.236C>T | p.P79L | Missense | 1/5 | - | 4 |
| 5-34007890-G-C | c.235C>G | p.P79A | Missense | 1/5 | - | 1 |
| 5-34007893-C-T | c.232G>A | p.E78K | Missense | 1/5 | - | 1 |
| 5-34007894-C-A | c.231G>T | p.L77= | Synonymous | 1/5 | - | 1 |
| 5-34007894-C-G | c.231G>C | p.L77= | Synonymous | 1/5 | - | 1 |
| 5-34007894-C-T | c.231G>A | p.L77= | Synonymous | 1/5 | - | 1 |
| 5-34007896-G-A | c.229C>T | p.L77= | Synonymous | 1/5 | - | 1 |
| 5-34007898-A-G | c.227T>C | p.L76P | Missense | 1/5 | - | 1 |
| 5-34007898-AG-GT | c.226_227delinsAC | p.L76T | Missense | 1/5 | - | 1 |
| 5-34007893-CCAG-C | c.229_231del | p.L77del | InFrameDeletion | 1/5 | - | 1 |
| 5-34007899-G-T | c.226C>A | p.L76M | Missense | 1/5 | - | 1 |
| 5-34007900-CAC-GAT | c.223_225delinsATC | p.V75I | Missense | 1/5 | - | 1 |
| 5-34007900-C-T | c.225G>A | p.V75= | Synonymous | 1/5 | - | 1 |
| 5-34007903-A-T | c.222T>A | p.D74E | Missense | 1/5 | - | 1 |
| 5-34007905-C-T | c.220G>A | p.D74N | Missense | 1/5 | - | 1 |
| 5-34007906-CG-AA | c.218_219delinsTT | p.S73F | Missense | 1/5 | - | 1 |
| 5-34007906-CGA-GTT | c.217_219delinsAAC | p.S73N | Missense | 1/5 | - | 1 |
| 5-34007910-C-G | c.215G>C | p.R72P | Missense | 1/5 | - | 2 |
| 5-34007911-G-C | c.214C>G | p.R72G | Missense | 1/5 | - | 1 |
| 5-34007914-T-C | c.211A>G | p.K71E | Missense | 1/5 | - | 1 |
| 5-34007915-G-A | c.210C>T | p.C70= | Synonymous | 1/5 | - | 1 |
| 5-34007916-CA-GC | c.208_209delinsGC | p.C70A | Missense | 1/5 | - | 1 |
| 5-34007916-CA-GT | c.208_209delinsAC | p.C70T | Missense | 1/5 | - | 1 |
| 5-34007916-CA-TC | c.208_209delinsGA | p.C70D | Missense | 1/5 | - | 1 |
| 5-34007918-C-A | c.207G>T | p.L69= | Synonymous | 1/5 | - | 1 |
| 5-34007918-CAG-ATA | c.205_207delinsTAT | p.L69Y | Missense | 1/5 | - | 2 |
| 5-34007918-C-G | c.207G>C | p.L69= | Synonymous | 1/5 | - | 1 |
| 5-34007918-C-T | c.207G>A | p.L69= | Synonymous | 1/5 | - | 1 |
| 5-34007920-G-A | c.205C>T | p.L69= | Synonymous | 1/5 | - | 1 |
| 5-34007919-A-C | c.206T>G | p.L69R | Missense | 1/5 | - | 1 |
| 5-34007919-A-G | c.206T>C | p.L69P | Missense | 1/5 | - | 1 |
| 5-34007920-G-T | c.205C>A | p.L69M | Missense | 1/5 | - | 1 |
| 5-34007921-ACG-CTT | c.202_204delinsAAG | p.R68K | Missense | 1/5 | - | 1 |
| 5-34007921-AC-TT | c.203_204delinsAA | p.R68Q | Missense | 1/5 | - | 1 |
| 5-34007922-C-A | c.203G>T | p.R68L | Missense | 1/5 | - | 2 |
| 5-34007922-C-G | c.203G>C | p.R68P | Missense | 1/5 | - | 1 |
| 5-34007922-CG-AT | c.202_203delinsAT | p.R68I | Missense | 1/5 | - | 3 |
| 5-34007922-CG-GT | c.202_203delinsAC | p.R68T | Missense | 1/5 | - | 1 |
| 5-34007924-CC-AT | c.200_201delinsAT | p.R67H | Missense | 1/5 | - | 1 |
| 5-34007924-CCG-ACA | c.199_201delinsTGT | p.R67C | Missense | 1/5 | - | 1 |
| 5-34007924-C-T | c.201G>A | p.R67= | Synonymous | 1/5 | - | 1 |
| 5-34007927-CAG-GAT | c.196_198delinsATC | p.L66I | Missense | 1/5 | - | 1 |
| 5-34007927-C-CA | c.197dup | p.R67Afs*75 | Frameshift | 1/5 | - | 1 |
| 5-34007932-C-T | c.193G>A | p.V65M | Missense | 1/5 | - | 1 |
| 5-34007934-G-A | c.191C>T | p.A64V | Missense | 1/5 | - | 1 |
| 5-34007934-G-T | c.191C>A | p.A64D | Missense | 1/5 | - | 1 |
| 5-34007935-C-A | c.190G>T | p.A64S | Missense | 1/5 | - | 3 |
| 5-34007935-C-T | c.190G>A | p.A64T | Missense | 1/5 | - | 2 |
| 5-34007931-ACGG-A | c.191_193del | p.A64del | InFrameDeletion | 1/5 | - | 1 |
| 5-34007936-G-A | c.189C>T | p.A63= | Synonymous | 1/5 | - | 1 |
| 5-34007936-G-C | c.189C>G | p.A63= | Synonymous | 1/5 | - | 1 |
| 5-34007936-G-T | c.189C>A | p.A63= | Synonymous | 1/5 | - | 1 |
| 5-34007937-G-A | c.188C>T | p.A63V | Missense | 1/5 | - | 2 |
| 5-34007937-G-T | c.188C>A | p.A63D | Missense | 1/5 | - | 2 |
| 5-34007938-C-A | c.187G>T | p.A63S | Missense | 1/5 | - | 1 |
| 5-34007938-C-G | c.187G>C | p.A63P | Missense | 1/5 | - | 1 |
| 5-34007938-C-T | c.187G>A | p.A63T | Missense | 1/5 | - | 2 |
| 5-34007940-C-G | c.185G>C | p.G62A | Missense | 1/5 | - | 1 |
| 5-34007942-CC-AT | c.182_183delinsAT | p.R61H | Missense | 1/5 | - | 1 |
| 5-34007942-CCG-ACA | c.181_183delinsTGT | p.R61C | Missense | 1/5 | - | 2 |
| 5-34007943-C-A | c.182G>T | p.R61L | Missense | 1/5 | - | 1 |
| 5-34007943-CG-TT | c.181_182delinsAA | p.R61K | Missense | 1/5 | - | 1 |
| 5-34007947-G-C | c.178C>G | p.P60A | Missense | 1/5 | - | 1 |
| 5-34007949-T-C | c.176A>G | p.Q59R | Missense | 1/5 | - | 1 |
| 5-34007952-T-C | c.173A>G | p.K58R | Missense | 1/5 | - | 2 |
| 5-34007952-TT-CC | c.172_173delinsGG | p.K58G | Missense | 1/5 | - | 1 |
| 5-34007953-T-A | c.172A>T | p.K58* | Nonsense | 1/5 | - | 1 |
| 5-34007954-C-A | c.171G>T | p.L57= | Synonymous | 1/5 | - | 1 |
| 5-34007954-CAG-AAA | c.169_171delinsTTT | p.L57F | Missense | 1/5 | - | 2 |
| 5-34007955-A-C | c.170T>G | p.L57R | Missense | 1/5 | - | 1 |
| 5-34007955-AG-GA | c.169_170delinsTC | p.L57S | Missense | 1/5 | - | 1 |
| 5-34007957-G-C | c.168C>G | p.D56E | Missense | 1/5 | - | 1 |
| 5-34007957-G-T | c.168C>A | p.D56E | Missense | 1/5 | - | 1 |
| 5-34007958-T-G | c.167A>C | p.D56A | Missense | 1/5 | - | 1 |
| 5-34007959-C-T | c.166G>A | p.D56N | Missense | 1/5 | - | 3 |
| 5-34007960-C-A | c.165G>T | p.L55= | Synonymous | 1/5 | - | 1 |
| 5-34007960-C-G | c.165G>C | p.L55= | Synonymous | 1/5 | - | 1 |
| 5-34007960-C-T | c.165G>A | p.L55= | Synonymous | 1/5 | - | 1 |
| 5-34007962-G-A | c.163C>T | p.L55= | Synonymous | 1/5 | - | 1 |
| 5-34007963-C-A | c.162G>T | p.V54= | Synonymous | 1/5 | - | 1 |
| 5-34007963-CAC-GAT | c.160_162delinsATC | p.V54I | Missense | 1/5 | - | 4 |
| 5-34007963-C-G | c.162G>C | p.V54= | Synonymous | 1/5 | - | 1 |
| 5-34007963-C-T | c.162G>A | p.V54= | Synonymous | 1/5 | - | 1 |
| 5-34007966-TAG-AAA | c.157_159delinsTTT | p.L53F | Missense | 1/5 | - | 5 |
| 5-34007968-G-T | c.157C>A | p.L53I | Missense | 1/5 | - | 1 |
| 5-34007969-CG-AC | c.155_156delinsGT | p.S52C | Missense | 1/5 | - | 1 |
| 5-34007970-G-A | c.155C>T | p.S52L | Missense | 1/5 | - | 1 |
| 5-34007970-GA-CT | c.154_155delinsAG | p.S52R | Missense | 1/5 | - | 1 |
| 5-34007970-G-T | c.155C>A | p.S52* | Nonsense | 1/5 | - | 1 |
| 5-34007971-A-G | c.154T>C | p.S52P | Missense | 1/5 | - | 16 |
| 5-34007973-C-A | c.152G>T | p.R51L | Missense | 1/5 | - | 3 |
| 5-34007973-C-G | c.152G>C | p.R51P | Missense | 1/5 | - | 1 |
| 5-34007973-C-T | c.152G>A | p.R51H | Missense | 1/5 | - | 1 |
| 5-34007974-G-A | c.151C>T | p.R51C | Missense | 1/5 | - | 2 |
| 5-34007975-C-T | c.150G>A | p.K50= | Synonymous | 1/5 | - | 1 |
| 5-34007975-CT-GC | c.149_150delinsGC | p.K50S | Missense | 1/5 | - | 1 |
| 5-34007978-GCC-TCA | c.145_147delinsTGA | p.G49* | Nonsense | 1/5 | - | 1 |
| 5-34007979-C-A | c.146G>T | p.G49V | Missense | 1/5 | - | 3 |
| 5-34007979-CC-AT | c.145_146delinsAT | p.G49I | Missense | 1/5 | - | 1 |
| 5-34007979-CC-GT | c.145_146delinsAC | p.G49T | Missense | 1/5 | - | 1 |
| 5-34007979-C-T | c.146G>A | p.G49D | Missense | 1/5 | - | 1 |
| 5-34007980-C-A | c.145G>T | p.G49C | Missense | 1/5 | - | 2 |
| 5-34007980-C-T | c.145G>A | p.G49S | Missense | 1/5 | - | 1 |
| 5-34007982-C-A | c.143G>T | p.R48L | Missense | 1/5 | - | 1 |
| 5-34007982-CG-AT | c.142_143delinsAT | p.R48M | Missense | 1/5 | - | 2 |
| 5-34007984-GC-CT | c.140_141delinsAG | p.G47E | Missense | 1/5 | - | 1 |
| 5-34007985-C-A | c.140G>T | p.G47V | Missense | 1/5 | - | 1 |
| 5-34007985-C-T | c.140G>A | p.G47D | Missense | 1/5 | - | 1 |
| 5-34007986-C-T | c.139G>A | p.G47S | Missense | 1/5 | - | 1 |
| 5-34007987-C-A | c.138G>T | p.L46F | Missense | 1/5 | - | 2 |
| 5-34007987-CA-AC | c.137_138delinsGT | p.L46C | Missense | 1/5 | - | 1 |
| 5-34007987-CAA-GAT | c.136_138delinsATC | p.L46I | Missense | 1/5 | - | 1 |
| 5-34007987-C-G | c.138G>C | p.L46F | Missense | 1/5 | - | 2 |
| 5-34007990-GCG-CTT | c.133_135delinsAAG | p.R45K | Missense | 1/5 | - | 1 |
| 5-34007990-GC-TT | c.134_135delinsAA | p.R45Q | Missense | 1/5 | - | 2 |
| 5-34007991-C-T | c.134G>A | p.R45H | Missense | 1/5 | - | 2 |
| 5-34007993-G-C | c.132C>G | p.S44R | Missense | 1/5 | - | 2 |
| 5-34007993-G-T | c.132C>A | p.S44R | Missense | 1/5 | - | 2 |
| 5-34007995-T-G | c.130A>C | p.S44R | Missense | 1/5 | - | 2 |
| 5-34007994-CT-AG | c.130_131inv | p.S44L | Missense | 1/5 | - | 1 |
| 5-34007994-CT-GG | c.130_131delinsCC | p.S44P | Missense | 1/5 | - | 2 |
| 5-34007997-A-C | c.128T>G | p.V43G | Missense | 1/5 | - | 1 |
| 5-34007997-A-G | c.128T>C | p.V43A | Missense | 1/5 | - | 1 |
| 5-34007999-G-C | c.126C>G | p.D42E | Missense | 1/5 | - | 1 |
| 5-34007999-G-T | c.126C>A | p.D42E | Missense | 1/5 | - | 1 |
| 5-34008004-A-G | c.121T>C | p.Y41H | Missense | 1/5 | - | 1 |
| 5-34008006-C-G | c.119G>C | p.R40P | Missense | 1/5 | - | 1 |
| 5-34008006-C-T | c.119G>A | p.R40H | Missense | 1/5 | - | 3 |
| 5-34008007-G-A | c.118C>T | p.R40C | Missense | 1/5 | - | 1 |
| 5-34008007-G-C | c.118C>G | p.R40G | Missense | 1/5 | - | 1 |
| 5-34008007-G-T | c.118C>A | p.R40S | Missense | 1/5 | - | 1 |
| 5-34008009-GA-AG | c.115_116delinsCT | p.S39L | Missense | 1/5 | - | 1 |
| 5-34008011-GC-CT | c.113_114delinsAG | p.G38E | Missense | 1/5 | - | 1 |
| 5-34008012-C-A | c.113G>T | p.G38V | Missense | 1/5 | - | 2 |
| 5-34008012-C-G | c.113G>C | p.G38A | Missense | 1/5 | - | 1 |
| 5-34008013-C-A | c.112G>T | p.G38C | Missense | 1/5 | - | 2 |
| 5-34008013-C-G | c.112G>C | p.G38R | Missense | 1/5 | - | 1 |
| 5-34008013-C-T | c.112G>A | p.G38S | Missense | 1/5 | - | 1 |
| 5-34008016-G-A | c.109C>T | p.P37S | Missense | 1/5 | - | 2 |
| 5-34008016-G-T | c.109C>A | p.P37T | Missense | 1/5 | - | 1 |
| 5-34008018-C-A | c.107G>T | p.R36L | Missense | 1/5 | - | 1 |
| 5-34008018-C-T | c.107G>A | p.R36Q | Missense | 1/5 | - | 1 |
| 5-34008019-G-A | c.106C>T | p.R36W | Missense | 1/5 | - | 2 |
| 5-34008021-T-A | c.104A>T | p.D35V | Missense | 1/5 | - | 2 |
| 5-34008021-TC-CA | c.103_104delinsTG | p.D35C | Missense | 1/5 | - | 1 |
| 5-34008021-TC-CT | c.103_104delinsAG | p.D35S | Missense | 1/5 | - | 1 |
| 5-34008021-T-G | c.104A>C | p.D35A | Missense | 1/5 | - | 1 |
| 5-34008022-C-A | c.103G>T | p.D35Y | Missense | 1/5 | - | 2 |
| 5-34008023-CAC-AAA | c.100_102delinsTTT | p.V34F | Missense | 1/5 | - | 3 |
| 5-34008023-CAC-GAT | c.100_102delinsATC | p.V34I | Missense | 1/5 | - | 1 |
| 5-34008026-CGCG-C | c.97_99del | p.R33del | InFrameDeletion | 1/5 | - | 1 |
| 5-34008027-CG-GT | c.97_98delinsAC | p.R33T | Missense | 1/5 | - | 1 |
| 5-34008029-T-A | c.96A>T | p.V32= | Synonymous | 1/5 | - | 1 |
| 5-34008029-T-C | c.96A>G | p.V32= | Synonymous | 1/5 | - | 1 |
| 5-34008029-T-G | c.96A>C | p.V32= | Synonymous | 1/5 | - | 1 |
| 5-34008030-A-C | c.95T>G | p.V32G | Missense | 1/5 | - | 1 |
| 5-34008031-C-A | c.94G>T | p.V32L | Missense | 1/5 | - | 2 |
| 5-34008031-C-G | c.94G>C | p.V32L | Missense | 1/5 | - | 2 |
| 5-34008031-C-T | c.94G>A | p.V32I | Missense | 1/5 | - | 2 |
| 5-34008032-CAC-GAT | c.91_93delinsATC | p.V31I | Missense | 1/5 | - | 1 |
| 5-34008032-C-T | c.93G>A | p.V31= | Synonymous | 1/5 | - | 1 |
| 5-34008034-C-T | c.91G>A | p.V31M | Missense | 1/5 | - | 1 |
| 5-34008035-ACG-CAT | c.88_90delinsATG | p.R30M | Missense | 1/5 | - | 2 |
| 5-34008035-ACG-CTT | c.88_90delinsAAG | p.R30K | Missense | 1/5 | - | 1 |
| 5-34008035-CACG-C | c.88_90del | p.R30del | InFrameDeletion | 1/5 | - | 1 |
| 5-34008036-C-A | c.89G>T | p.R30L | Missense | 1/5 | - | 2 |
| 5-34008036-CG-GC | c.88_89delinsGC | p.R30A | Missense | 1/5 | - | 1 |
| 5-34008036-CG-TT | c.88_89delinsAA | p.R30N | Missense | 1/5 | - | 1 |
| 5-34008037-G-C | c.88C>G | p.R30G | Missense | 1/5 | - | 1 |
| 5-34008037-G-T | c.88C>A | p.R30S | Missense | 1/5 | - | 2 |
| 5-34008038-CGC-AAA | c.85_87delinsTTT | p.A29F | Missense | 1/5 | - | 2 |
| 5-34008038-CGC-ACA | c.85_87delinsTGT | p.A29C | Missense | 1/5 | - | 1 |
| 5-34008038-CGC-GTT | c.85_87delinsAAC | p.A29N | Missense | 1/5 | - | 1 |
| 5-34008038-CG-GT | c.86_87delinsAC | p.A29D | Missense | 1/5 | - | 2 |
| 5-34008039-G-A | c.86C>T | p.A29V | Missense | 1/5 | - | 1 |
| 5-34008039-G-C | c.86C>G | p.A29G | Missense | 1/5 | - | 2 |
| 5-34008039-GC-AG | c.85_86delinsCT | p.A29L | Missense | 1/5 | - | 3 |
| 5-34008039-GC-AT | c.85_86delinsAT | p.A29M | Missense | 1/5 | - | 2 |
| 5-34008039-GC-CT | c.85_86delinsAG | p.A29R | Missense | 1/5 | - | 1 |
| 5-34008039-GC-TG | c.85_86delinsCA | p.A29Q | Missense | 1/5 | - | 1 |
| 5-34008039-G-T | c.86C>A | p.A29E | Missense | 1/5 | - | 2 |
| 5-34008040-C-A | c.85G>T | p.A29S | Missense | 1/5 | - | 3 |
| 5-34008040-C-G | c.85G>C | p.A29P | Missense | 1/5 | - | 1 |
| 5-34008040-C-T | c.85G>A | p.A29T | Missense | 1/5 | - | 1 |
| 5-34008041-CCC-ACA | c.82_84delinsTGT | p.G28C | Missense | 1/5 | - | 1 |
| 5-34008042-C-G | c.83G>C | p.G28A | Missense | 1/5 | - | 1 |
| 5-34008042-C-T | c.83G>A | p.G28E | Missense | 1/5 | - | 1 |
| 5-34008044-G-T | c.81C>A | p.F27L | Missense | 1/5 | - | 1 |
| 5-34008047-G-C | c.78C>G | p.D26E | Missense | 1/5 | - | 1 |
| 5-34008047-G-T | c.78C>A | p.D26E | Missense | 1/5 | - | 1 |
| 5-34008048-T-C | c.77A>G | p.D26G | Missense | 1/5 | - | 2 |
| 5-34008048-TC-AA | c.76_77delinsTT | p.D26F | Missense | 1/5 | - | 1 |
| 5-34008049-C-A | c.76G>T | p.D26Y | Missense | 1/5 | - | 1 |
| 5-34008049-C-T | c.76G>A | p.D26N | Missense | 1/5 | - | 1 |
| 5-34008050-A-C | c.75T>G | p.A25= | Synonymous | 1/5 | - | 1 |
| 5-34008050-A-G | c.75T>C | p.A25= | Synonymous | 1/5 | - | 1 |
| 5-34008050-AGC-CAT | c.73_75delinsATG | p.A25M | Missense | 1/5 | - | 1 |
| 5-34008050-AGC-CTT | c.73_75delinsAAG | p.A25K | Missense | 1/5 | - | 1 |
| 5-34008050-AG-CT | c.74_75inv | p.A25E | Missense | 1/5 | - | 1 |
| 5-34008050-A-T | c.75T>A | p.A25= | Synonymous | 1/5 | - | 1 |
| 5-34008051-G-C | c.74C>G | p.A25G | Missense | 1/5 | - | 3 |
| 5-34008051-GC-AA | c.73_74delinsTT | p.A25F | Missense | 1/5 | - | 2 |
| 5-34008051-GC-AG | c.73_74delinsCT | p.A25L | Missense | 1/5 | - | 1 |
| 5-34008051-GC-AT | c.73_74delinsAT | p.A25I | Missense | 1/5 | - | 1 |
| 5-34008051-GC-CA | c.73_74delinsTG | p.A25C | Missense | 1/5 | - | 1 |
| 5-34008051-GC-CG | c.73_74delinsCG | p.A25R | Missense | 1/5 | - | 2 |
| 5-34008051-GC-TT | c.73_74delinsAA | p.A25N | Missense | 1/5 | - | 1 |
| 5-34008051-G-T | c.74C>A | p.A25D | Missense | 1/5 | - | 2 |
| 5-34008052-C-G | c.73G>C | p.A25P | Missense | 1/5 | - | 1 |
| 5-34008052-C-T | c.73G>A | p.A25T | Missense | 1/5 | - | 1 |
| 5-34008053-CAG-AAA | c.70_72delinsTTT | p.L24F | Missense | 1/5 | - | 3 |
| 5-34008054-A-G | c.71T>C | p.L24P | Missense | 1/5 | - | 1 |
| 5-34008054-AG-GA | c.70_71delinsTC | p.L24S | Missense | 1/5 | - | 2 |
| 5-34008054-AG-TC | c.70_71delinsGA | p.L24E | Missense | 1/5 | - | 1 |
| 5-34008055-G-C | c.70C>G | p.L24V | Missense | 1/5 | - | 1 |
| 5-34008056-G-A | c.69C>T | p.V23= | Synonymous | 1/5 | - | 1 |
| 5-34008056-G-C | c.69C>G | p.V23= | Synonymous | 1/5 | - | 1 |
| 5-34008056-G-T | c.69C>A | p.V23= | Synonymous | 1/5 | - | 1 |
| 5-34008057-A-G | c.68T>C | p.V23A | Missense | 1/5 | - | 1 |
| 5-34008058-C-G | c.67G>C | p.V23L | Missense | 1/5 | - | 3 |
| 5-34008058-C-T | c.67G>A | p.V23I | Missense | 1/5 | - | 1 |
| 5-34008059-CAT-AAA | c.64_66delinsTTT | p.M22F | Missense | 1/5 | - | 1 |
| 5-34008060-AT-CC | c.64_65delinsGG | p.M22G | Missense | 1/5 | - | 1 |
| 5-34008062-A-C | c.63T>G | p.A21= | Synonymous | 1/5 | - | 1 |
| 5-34008062-A-G | c.63T>C | p.A21= | Synonymous | 1/5 | - | 1 |
| 5-34008062-A-T | c.63T>A | p.A21= | Synonymous | 1/5 | - | 1 |
| 5-34008063-G-A | c.62C>T | p.A21V | Missense | 1/5 | - | 4 |
| 5-34008063-GC-CA | c.61_62delinsTG | p.A21C | Missense | 1/5 | - | 2 |
| 5-34008064-C-T | c.61G>A | p.A21T | Missense | 1/5 | - | 1 |
| 5-34008065-A-T | c.60T>A | p.C20* | Nonsense | 1/5 | - | 3 |
| 5-34008066-C-A | c.59G>T | p.C20F | Missense | 1/5 | - | 1 |
| 5-34008066-CA-TC | c.58_59delinsGA | p.C20D | Missense | 1/5 | - | 2 |
| 5-34008067-A-C | c.58T>G | p.C20G | Missense | 1/5 | - | 1 |
| 5-34008067-A-G | c.58T>C | p.C20R | Missense | 1/5 | - | 2 |
| 5-34008069-A-G | c.56T>C | p.F19S | Missense | 1/5 | - | 1 |
| 5-34008068-G-C | c.57C>G | p.F19L | Missense | 1/5 | - | 2 |
| 5-34008068-G-T | c.57C>A | p.F19L | Missense | 1/5 | - | 2 |
| 5-34008070-A-C | c.55T>G | p.F19V | Missense | 1/5 | - | 2 |
| 5-34008070-A-G | c.55T>C | p.F19L | Missense | 1/5 | - | 2 |
| 5-34008073-G-A | c.52C>T | p.P18S | Missense | 1/5 | - | 1 |
| 5-34008073-G-C | c.52C>G | p.P18A | Missense | 1/5 | - | 1 |
| 5-34008073-G-T | c.52C>A | p.P18T | Missense | 1/5 | - | 2 |
| 5-34008074-GCC-CCA | c.49_51delinsTGG | p.G17W | Missense | 1/5 | - | 1 |
| 5-34008075-C-G | c.50G>C | p.G17A | Missense | 1/5 | - | 1 |
| 5-34008076-C-A | c.49G>T | p.G17C | Missense | 1/5 | - | 2 |
| 5-34008076-C-G | c.49G>C | p.G17R | Missense | 1/5 | - | 2 |
| 5-34008076-C-T | c.49G>A | p.G17S | Missense | 1/5 | - | 1 |
| 5-34008077-C-A | c.48G>T | p.P16= | Synonymous | 1/5 | - | 1 |
| 5-34008077-C-G | c.48G>C | p.P16= | Synonymous | 1/5 | - | 1 |
| 5-34008077-C-T | c.48G>A | p.P16= | Synonymous | 1/5 | - | 1 |
| 5-34008078-G-A | c.47C>T | p.P16L | Missense | 1/5 | - | 1 |
| 5-34008079-G-A | c.46C>T | p.P16S | Missense | 1/5 | - | 3 |
| 5-34008080-GGC-CTT | c.43_45delinsAAG | p.A15K | Missense | 1/5 | - | 1 |
| 5-34008081-G-A | c.44C>T | p.A15V | Missense | 1/5 | - | 2 |
| 5-34008081-G-T | c.44C>A | p.A15D | Missense | 1/5 | - | 1 |
| 5-34008082-C-A | c.43G>T | p.A15S | Missense | 1/5 | - | 3 |
| 5-34008082-C-T | c.43G>A | p.A15T | Missense | 1/5 | - | 2 |
| 5-34008083-CAG-AAA | c.40_42delinsTTT | p.L14F | Missense | 1/5 | - | 1 |
| 5-34008083-CAG-GAT | c.40_42delinsATC | p.L14I | Missense | 1/5 | - | 1 |
| 5-34008083-CCAG-C | c.40_42del | p.L14del | InFrameDeletion | 1/5 | - | 2 |
| 5-34008084-AG-GA | c.40_41delinsTC | p.L14S | Missense | 1/5 | - | 1 |
| 5-34008085-G-C | c.40C>G | p.L14V | Missense | 1/5 | - | 1 |
| 5-34008086-GC-CT | c.38_39delinsAG | p.G13E | Missense | 1/5 | - | 1 |
| 5-34008087-CC-GG | c.37_38inv | p.G13P | Missense | 1/5 | - | 1 |
| 5-34008087-C-G | c.38G>C | p.G13A | Missense | 1/5 | - | 3 |
| 5-34008087-GCC-G | c.37_38del | p.G13Pfs*13 | Frameshift | 1/5 | - | 1 |
| 5-34008088-C-A | c.37G>T | p.G13C | Missense | 1/5 | - | 3 |
| 5-34008088-CCG-C | c.36_37del | p.G13Pfs*13 | Frameshift | 1/5 | - | 1 |
| 5-34008088-C-G | c.37G>C | p.G13R | Missense | 1/5 | - | 1 |
| 5-34008088-C-T | c.37G>A | p.G13S | Missense | 1/5 | - | 1 |
| 5-34008089-G-A | c.36C>T | p.S12= | Synonymous | 1/5 | - | 1 |
| 5-34008089-G-C | c.36C>G | p.S12= | Synonymous | 1/5 | - | 1 |
| 5-34008089-GGA-CTC | c.34_36delinsGAG | p.S12E | Missense | 1/5 | - | 9 |
| 5-34008089-G-T | c.36C>A | p.S12= | Synonymous | 1/5 | - | 1 |
| 5-34008090-G-A | c.35C>T | p.S12F | Missense | 1/5 | - | 5 |
| 5-34008090-GA-AT | c.34_35delinsAT | p.S12I | Missense | 1/5 | - | 2 |
| 5-34008090-GA-CC | c.34_35delinsGG | p.S12G | Missense | 1/5 | - | 4 |
| 5-34008090-GA-TC | c.34_35inv | p.S12D | Missense | 1/5 | - | 7 |
| 5-34008090-GA-TG | c.34_35delinsCA | p.S12H | Missense | 1/5 | - | 2 |
| 5-34008090-G-C | c.35C>G | p.S12C | Missense | 1/5 | - | 13 |
| 5-34008091-A-C | c.34T>G | p.S12A | Missense | 1/5 | - | 35 |
| 5-34008092-CAG-AAA | c.31_33delinsTTT | p.L11F | Missense | 1/5 | - | 2 |
| 5-34008092-CAG-ATA | c.31_33delinsTAT | p.L11Y | Missense | 1/5 | - | 1 |
| 5-34008096-T-C | c.29A>G | p.E10G | Missense | 1/5 | - | 1 |
| 5-34008096-TC-AT | c.28_29delinsAT | p.E10M | Missense | 1/5 | - | 1 |
| 5-34008096-TC-CT | c.28_29delinsAG | p.E10R | Missense | 1/5 | - | 2 |
| 5-34008096-T-G | c.29A>C | p.E10A | Missense | 1/5 | - | 2 |
| 5-34008097-C-G | c.28G>C | p.E10Q | Missense | 1/5 | - | 1 |
| 5-34008097-C-T | c.28G>A | p.E10K | Missense | 1/5 | - | 1 |
| 5-34008100-C-T | c.25G>A | p.V9M | Missense | 1/5 | - | 37 |
| 5-34008102-A-G | c.23T>C | p.V8A | Missense | 1/5 | - | 1 |
| 5-34008104-CG-AA | c.20_21delinsTT | p.S7F | Missense | 1/5 | - | 1 |
| 5-34008105-G-A | c.20C>T | p.S7L | Missense | 1/5 | - | 1 |
| 5-34008105-G-C | c.20C>G | p.S7W | Missense | 1/5 | - | 1 |
| 5-34008106-A-C | c.19T>G | p.S7A | Missense | 1/5 | - | 1 |
| 5-34008106-A-T | c.19T>A | p.S7T | Missense | 1/5 | - | 1 |
| 5-34008107-G-A | c.18C>T | p.I6= | Synonymous | 1/5 | - | 1 |
| 5-34008107-G-C | c.18C>G | p.I6M | Missense | 1/5 | - | 2 |
| 5-34008107-G-T | c.18C>A | p.I6= | Synonymous | 1/5 | - | 1 |
| 5-34008111-C-A | c.14G>T | p.G5V | Missense | 1/5 | - | 4 |
| 5-34008112-C-T | c.13G>A | p.G5S | Missense | 1/5 | - | 2 |
| 5-34008113-C-A | c.12G>T | p.Q4H | Missense | 1/5 | - | 2 |
| 5-34008117-A-G | c.8T>C | p.L3P | Missense | 1/5 | - | 1 |
| 5-34008119-T-A | c.6A>T | p.A2= | Synonymous | 1/5 | - | 2 |
| 5-34008119-T-C | c.6A>G | p.A2= | Synonymous | 1/5 | - | 1 |
| 5-34008119-T-G | c.6A>C | p.A2= | Synonymous | 1/5 | - | 1 |
| 5-34008120-G-A | c.5C>T | p.A2V | Missense | 1/5 | - | 1 |
| 5-34008122-C-A | c.3G>T | p.M1? | Missense | 1/5 | - | 1 |
| 5-34008122-C-G | c.3G>C | p.M1? | Missense | 1/5 | - | 1 |
| 5-34008122-C-T | c.3G>A | p.M1? | Missense | 1/5 | - | 2 |