| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 14-74946682-G-A | c.*295C>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946682-G-C | c.*295C>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946808-T-C | c.*169A>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946823-C-G | c.*154G>C | - | 3-UTRSNV | 5/5 | - | 2 |
| 14-74946823-C-T | c.*154G>A | - | 3-UTRSNV | 5/5 | - | 2 |
| 14-74946824-G-A | c.*153C>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946865-T-C | c.*112A>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946875-C-G | c.*102G>C | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946875-C-T | c.*102G>A | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946910-G-A | c.*67C>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946922-C-A | c.*55G>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946943-T-A | c.*34A>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946943-T-C | c.*34A>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946944-C-G | c.*33G>C | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946944-C-T | c.*33G>A | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946959-C-A | c.*18G>T | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946959-C-T | c.*18G>A | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946968-A-G | c.*9T>C | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946975-A-C | c.*2T>G | - | 3-UTRSNV | 5/5 | - | 1 |
| 14-74946980-G-C | c.453C>G | p.L151= | Synonymous | 5/5 | - | 1 |
| 14-74946982-G-A | c.451C>T | p.L151F | Missense | 5/5 | - | 1 |
| 14-74946983-A-G | c.450T>C | p.H150= | Synonymous | 5/5 | - | 1 |
| 14-74946990-A-T | c.443T>A | p.V148D | Missense | 5/5 | - | 1 |
| 14-74946991-C-T | c.442G>A | p.V148I | Missense | 5/5 | - | 6 |
| 14-74946995-T-C | c.442-4A>G | - | IntronicSNV | - | 4/4 | 2 |
| 14-74946995-T-G | c.442-4A>C | - | IntronicSNV | - | 4/4 | 2 |
| 14-74947200-CT-C | c.441+204del | - | IntronicDeletion | - | 4/4 | 1 |
| 14-74947337-G-A | c.441+68C>T | - | IntronicSNV | - | 4/4 | 1 |
| 14-74947363-T-G | c.441+42A>C | - | IntronicSNV | - | 4/4 | 1 |
| 14-74947365-T-C | c.441+40A>G | - | IntronicSNV | - | 4/4 | 1 |
| 14-74947403-A-T | c.441+2T>A | - | IntronicSNV | - | 4/4 | 1 |
| 14-74947404-C-G | c.441+1G>C | - | IntronicSNV | - | 4/4 | 1 |
| 14-74947404-C-T | c.441+1G>A | - | IntronicSNV | - | 4/4 | 20 |
| 14-74947405-G-A | c.441C>T | p.I147= | Synonymous | 4/5 | - | 1 |
| 14-74947405-G-T | c.441C>A | p.I147= | Synonymous | 4/5 | - | 1 |
| 14-74947410-G-A | c.436C>T | p.Q146* | Nonsense | 4/5 | - | 6 |
| 14-74947412-A-T | c.434T>A | p.V145E | Missense | 4/5 | - | 2 |
| 14-74947414-T-A | c.432A>T | p.P144= | Synonymous | 4/5 | - | 1 |
| 14-74947414-T-C | c.432A>G | p.P144= | Synonymous | 4/5 | - | 1 |
| 14-74947414-T-G | c.432A>C | p.P144= | Synonymous | 4/5 | - | 1 |
| 14-74947415-G-A | c.431C>T | p.P144L | Missense | 4/5 | - | 1 |
| 14-74947415-GG-TT | c.430_431delinsAA | p.P144K | Missense | 4/5 | - | 1 |
| 14-74947415-G-T | c.431C>A | p.P144Q | Missense | 4/5 | - | 1 |
| 14-74947417-G-A | c.429C>T | p.I143= | Synonymous | 4/5 | - | 1 |
| 14-74947422-C-T | c.424G>A | p.E142K | Missense | 4/5 | - | 1 |
| 14-74947424-C-T | c.422G>A | p.W141* | Nonsense | 4/5 | - | 1 |
| 14-74947427-C-A | c.419G>T | p.C140F | Missense | 4/5 | - | 1 |
| 14-74947434-G-T | c.412C>A | p.L138I | Missense | 4/5 | - | 1 |
| 14-74947436-C-A | c.410G>T | p.S137I | Missense | 4/5 | - | 1 |
| 14-74947436-C-T | c.410G>A | p.S137N | Missense | 4/5 | - | 1 |
| 14-74947436-CTT-C | c.408_409del | p.F139Lfs*94 | Frameshift | 4/5 | - | 4 |
| 14-74947440-G-A | c.406C>T | p.Q136* | Nonsense | 4/5 | - | 1 |
| 14-74947441-G-A | c.405C>T | p.N135= | Synonymous | 4/5 | - | 1 |
| 14-74947447-G-C | c.399C>G | p.D133E | Missense | 4/5 | - | 1 |
| 14-74947447-G-T | c.399C>A | p.D133E | Missense | 4/5 | - | 1 |
| 14-74947452-C-T | c.394G>A | p.D132N | Missense | 4/5 | - | 1 |
| 14-74947457-A-G | c.389T>C | p.L130P | Missense | 4/5 | - | 1 |
| 14-74947461-G-A | c.385C>T | p.Q129* | Nonsense | 4/5 | - | 1 |
| 14-74947462-C-G | c.384G>C | p.W128C | Missense | 4/5 | - | 1 |
| 14-74947468-C-T | c.378G>A | p.V126= | Synonymous | 4/5 | - | 2 |
| 14-74947469-A-G | c.377T>C | p.V126A | Missense | 4/5 | - | 1 |
| 14-74947470-C-T | c.376G>A | p.V126M | Missense | 4/5 | - | 1 |
| 14-74947481-A-G | c.365T>C | p.I122T | Missense | 4/5 | - | 1 |
| 14-74948180-C-T | c.364-698G>A | - | IntronicSNV | - | 3/4 | 1 |
| 14-74949808-C-A | c.363+1310G>T | - | IntronicSNV | - | 3/4 | 1 |
| 14-74949809-A-G | c.363+1309T>C | - | IntronicSNV | - | 3/4 | 1 |
| 14-74949811-C-T | c.363+1307G>A | - | IntronicSNV | - | 3/4 | 1 |
| 14-74949889-G-A | c.363+1229C>T | - | IntronicSNV | - | 3/4 | 1 |
| 14-74949938-G-A | c.363+1180C>T | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950013-C-T | c.363+1105G>A | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950238-T-C | c.363+880A>G | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950260-A-G | c.363+858T>C | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950301-A-C | c.363+817T>G | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950307-T-C | c.363+811A>G | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950637-C-T | c.363+481G>A | - | IntronicSNV | - | 3/4 | 1 |
| 14-74950964-T-C | c.363+154A>G | - | IntronicSNV | - | 3/4 | 1 |
| 14-74951000-T-TCTG | c.363+117_363+118insCAG | - | IntronicInsertion | - | 3/4 | 3 |
| 14-74951002-T-TGC | c.363+115_363+116insGC | - | IntronicInsertion | - | 3/4 | 1 |
| 14-74951111-C-T | c.363+7G>A | - | IntronicSNV | - | 3/4 | 1 |
| 14-74951119-G-C | c.362C>G | p.S121C | Missense | 3/5 | - | 1 |
| 14-74951120-A-C | c.361T>G | p.S121A | Missense | 3/5 | - | 1 |
| 14-74951123-G-A | c.358C>T | p.P120S | Missense | 3/5 | - | 12 |
| 14-74951123-G-C | c.358C>G | p.P120A | Missense | 3/5 | - | 1 |
| 14-74951123-G-T | c.358C>A | p.P120T | Missense | 3/5 | - | 1 |
| 14-74951125-TA-GC | c.355_356delinsGC | p.Y119A | Missense | 3/5 | - | 1 |
| 14-74951129-C-A | c.352G>T | p.E118* | Nonsense | 3/5 | - | 12 |
| 14-74951129-C-T | c.352G>A | p.E118K | Missense | 3/5 | - | 2 |
| 14-74951140-G-T | c.341C>A | p.P114Q | Missense | 3/5 | - | 1 |
| 14-74951141-G-C | c.340C>G | p.P114A | Missense | 3/5 | - | 1 |
| 14-74951142-TAG-CAT | c.337_339delinsATG | p.L113M | Missense | 3/5 | - | 1 |
| 14-74951144-G-T | c.337C>A | p.L113I | Missense | 3/5 | - | 1 |
| 14-74951146-T-TGG | c.334_335insCC | p.K112Tfs*5 | Frameshift | 3/5 | - | 1 |
| 14-74951145-TTTA-T | c.333_335del | p.N111del | InFrameDeletion | 3/5 | - | 1 |
| 14-74951147-T-TA | c.333dup | p.K112* | Nonsense | 3/5 | - | 1 |
| 14-74951148-A-C | c.333T>G | p.N111K | Missense | 3/5 | - | 2 |
| 14-74951148-A-G | c.333T>C | p.N111= | Synonymous | 3/5 | - | 2 |
| 14-74951148-A-T | c.333T>A | p.N111K | Missense | 3/5 | - | 2 |
| 14-74951148-AT-A | c.332del | p.N111Ifs*5 | Frameshift | 3/5 | - | 3 |
| 14-74951159-T-C | c.322A>G | p.S108G | Missense | 3/5 | - | 1 |
| 14-74951161-T-C | c.320A>G | p.Y107C | Missense | 3/5 | - | 1 |
| 14-74951163-G-A | c.318C>T | p.T106= | Synonymous | 3/5 | - | 1 |
| 14-74951163-G-C | c.318C>G | p.T106= | Synonymous | 3/5 | - | 1 |
| 14-74951163-G-T | c.318C>A | p.T106= | Synonymous | 3/5 | - | 1 |
| 14-74951167-T-C | c.314A>G | p.K105R | Missense | 3/5 | - | 1 |
| 14-74951172-TT-GC | c.308_309delinsGC | p.K103S | Missense | 3/5 | - | 1 |
| 14-74951183-G-A | c.298C>T | p.P100S | Missense | 3/5 | - | 4 |
| 14-74951184-G-A | c.297C>T | p.C99= | Synonymous | 3/5 | - | 2 |
| 14-74951186-A-G | c.295T>C | p.C99R | Missense | 3/5 | - | 7 |
| 14-74951187-G-A | c.294C>T | p.N98= | Synonymous | 3/5 | - | 1 |
| 14-74951188-TT-GC | c.292_293delinsGC | p.N98A | Missense | 3/5 | - | 1 |
| 14-74951189-T-C | c.292A>G | p.N98D | Missense | 3/5 | - | 1 |
| 14-74951189-T-G | c.292A>C | p.N98H | Missense | 3/5 | - | 3 |
| 14-74951191-AT-GC | c.289_290delinsGC | p.I97A | Missense | 3/5 | - | 1 |
| 14-74951192-T-G | c.289A>C | p.I97L | Missense | 3/5 | - | 1 |
| 14-74951193-TC-GT | c.287_288delinsAC | p.G96D | Missense | 3/5 | - | 1 |
| 14-74951197-CT-AA | c.283_284delinsTT | p.S95F | Missense | 3/5 | - | 1 |
| 14-74951197-CT-GG | c.283_284delinsCC | p.S95P | Missense | 3/5 | - | 1 |
| 14-74951199-CTT-GTC | c.280_282delinsGAC | p.K94D | Missense | 3/5 | - | 1 |
| 14-74951200-T-A | c.281A>T | p.K94M | Missense | 3/5 | - | 1 |
| 14-74951203-C-A | c.278G>T | p.C93F | Missense | 3/5 | - | 7 |
| 14-74951210-C-T | c.271G>A | p.D91N | Missense | 3/5 | - | 3 |
| 14-74951217-A-C | c.264T>G | p.P88= | Synonymous | 3/5 | - | 1 |
| 14-74951217-A-G | c.264T>C | p.P88= | Synonymous | 3/5 | - | 1 |
| 14-74951217-A-T | c.264T>A | p.P88= | Synonymous | 3/5 | - | 1 |
| 14-74951218-G-A | c.263C>T | p.P88L | Missense | 3/5 | - | 2 |
| 14-74951218-GG-TT | c.262_263delinsAA | p.P88N | Missense | 3/5 | - | 1 |
| 14-74951219-G-A | c.262C>T | p.P88S | Missense | 3/5 | - | 1 |
| 14-74951224-G-A | c.257C>T | p.P86L | Missense | 3/5 | - | 8 |
| 14-74951225-G-A | c.256C>T | p.P86S | Missense | 3/5 | - | 3 |
| 14-74951227-AA-GC | c.253_254delinsGC | p.F85A | Missense | 3/5 | - | 2 |
| 14-74951234-C-A | c.247G>T | p.V83F | Missense | 3/5 | - | 1 |
| 14-74951235-T-A | c.246A>T | p.P82= | Synonymous | 3/5 | - | 1 |
| 14-74951235-T-C | c.246A>G | p.P82= | Synonymous | 3/5 | - | 1 |
| 14-74951235-T-G | c.246A>C | p.P82= | Synonymous | 3/5 | - | 1 |
| 14-74951239-A-G | c.242T>C | p.V81A | Missense | 3/5 | - | 1 |
| 14-74951239-A-T | c.242T>A | p.V81D | Missense | 3/5 | - | 1 |
| 14-74951241-G-A | c.240C>T | p.G80= | Synonymous | 3/5 | - | 1 |
| 14-74951242-C-G | c.239G>C | p.G80A | Missense | 3/5 | - | 2 |
| 14-74951246-T-C | c.235A>G | p.M79V | Missense | 3/5 | - | 1 |
| 14-74951249-G-A | c.232C>T | p.L78= | Synonymous | 3/5 | - | 1 |
| 14-74951253-G-A | c.228C>T | p.G76= | Synonymous | 3/5 | - | 1 |
| 14-74951253-G-C | c.228C>G | p.G76= | Synonymous | 3/5 | - | 1 |
| 14-74951253-G-T | c.228C>A | p.G76= | Synonymous | 3/5 | - | 3 |
| 14-74951255-C-A | c.226G>T | p.G76C | Missense | 3/5 | - | 1 |
| 14-74951257-T-A | c.224A>T | p.H75L | Missense | 3/5 | - | 1 |
| 14-74951257-T-G | c.224A>C | p.H75P | Missense | 3/5 | - | 1 |
| 14-74951258-G-A | c.223C>T | p.H75Y | Missense | 3/5 | - | 1 |
| 14-74951261-C-A | c.220G>T | p.V74L | Missense | 3/5 | - | 1 |
| 14-74951261-C-G | c.220G>C | p.V74L | Missense | 3/5 | - | 1 |
| 14-74951269-T-A | c.212A>T | p.K71M | Missense | 3/5 | - | 1 |
| 14-74951269-T-C | c.212A>G | p.K71R | Missense | 3/5 | - | 6 |
| 14-74951269-TT-AG | c.211_212delinsCT | p.K71L | Missense | 3/5 | - | 1 |
| 14-74951275-C-A | c.206G>T | p.S69I | Missense | 3/5 | - | 1 |
| 14-74951282-A-G | c.199T>C | p.S67P | Missense | 3/5 | - | 14 |
| 14-74951287-A-C | c.194T>G | p.I65S | Missense | 3/5 | - | 1 |
| 14-74951476-A-AC | c.191-187_191-186insG | - | IntronicInsertion | - | 2/4 | 1 |
| 14-74951476-A-C | c.191-186T>G | - | IntronicSNV | - | 2/4 | 1 |
| 14-74952538-A-G | c.190+494T>C | - | IntronicSNV | - | 2/4 | 1 |
| 14-74953018-C-A | c.190+14G>T | - | IntronicSNV | - | 2/4 | 1 |
| 14-74953018-C-T | c.190+14G>A | - | IntronicSNV | - | 2/4 | 1 |
| 14-74953027-C-T | c.190+5G>A | - | IntronicSNV | - | 2/4 | 5 |
| 14-74953038-TGAA-T | c.181_183del | p.F61del | InFrameDeletion | 2/5 | - | 1 |
| 14-74953040-A-G | c.182T>C | p.F61S | Missense | 2/5 | - | 1 |
| 14-74953041-A-G | c.181T>C | p.F61L | Missense | 2/5 | - | 1 |
| 14-74953048-ATT-TTG | c.172_174delinsCAA | p.N58Q | Missense | 2/5 | - | 1 |
| 14-74953050-T-C | c.172A>G | p.N58D | Missense | 2/5 | - | 1 |
| 14-74953054-G-A | c.168C>T | p.S56= | Synonymous | 2/5 | - | 1 |
| 14-74953057-G-C | c.165C>G | p.Y55* | Nonsense | 2/5 | - | 2 |
| 14-74953057-G-T | c.165C>A | p.Y55* | Nonsense | 2/5 | - | 1 |
| 14-74953063-C-T | c.159G>A | p.Q53= | Synonymous | 2/5 | - | 1 |
| 14-74953066-T-A | c.156A>T | p.G52= | Synonymous | 2/5 | - | 2 |
| 14-74953066-T-C | c.156A>G | p.G52= | Synonymous | 2/5 | - | 1 |
| 14-74953066-T-G | c.156A>C | p.G52= | Synonymous | 2/5 | - | 1 |
| 14-74953067-C-T | c.155G>A | p.G52E | Missense | 2/5 | - | 1 |
| 14-74953068-C-T | c.154G>A | p.G52R | Missense | 2/5 | - | 1 |
| 14-74953069-T-C | c.153A>G | p.K51= | Synonymous | 2/5 | - | 1 |
| 14-74953073-CT-GC | c.148_149delinsGC | p.S50A | Missense | 2/5 | - | 1 |
| 14-74953076-A-G | c.146T>C | p.L49P | Missense | 2/5 | - | 1 |
| 14-74953081-G-A | c.141C>T | p.C47= | Synonymous | 2/5 | - | 1 |
| 14-74953081-G-T | c.141C>A | p.C47* | Nonsense | 2/5 | - | 6 |
| 14-74953082-C-A | c.140G>T | p.C47F | Missense | 2/5 | - | 13 |
| 14-74953082-CA-GT | c.139_140delinsAC | p.C47T | Missense | 2/5 | - | 1 |
| 14-74953085-G-C | c.137C>G | p.P46R | Missense | 2/5 | - | 1 |
| 14-74953085-G-T | c.137C>A | p.P46H | Missense | 2/5 | - | 1 |
| 14-74953089-G-A | c.133C>T | p.Q45* | Nonsense | 2/5 | - | 5 |
| 14-74953092-T-G | c.130A>C | p.T44P | Missense | 2/5 | - | 1 |
| 14-74953096-G-C | c.126C>G | p.C42W | Missense | 2/5 | - | 1 |
| 14-74953100-G-T | c.122C>A | p.P41Q | Missense | 2/5 | - | 1 |
| 14-74953107-C-T | c.115G>A | p.V39M | Missense | 2/5 | - | 12 |
| 14-74953108-A-C | c.114T>G | p.N38K | Missense | 2/5 | - | 1 |
| 14-74953108-A-T | c.114T>A | p.N38K | Missense | 2/5 | - | 1 |
| 14-74953111-TC-T | c.111del | p.N38Mfs*2 | Frameshift | 2/5 | - | 1 |
| 14-74953115-T-C | c.107A>G | p.E36G | Missense | 2/5 | - | 2 |
| 14-74953118-T-C | c.104A>G | p.K35R | Missense | 2/5 | - | 1 |
| 14-74953129-ATC-CTT | c.91_93delinsAAG | p.D31K | Missense | 2/5 | - | 1 |
| 14-74953131-C-G | c.91G>C | p.D31H | Missense | 2/5 | - | 1 |
| 14-74953134-C-T | c.88G>A | p.V30M | Missense | 2/5 | - | 20 |
| 14-74953135-CA-C | c.87del | p.V30Wfs*5 | Frameshift | 2/5 | - | 1 |
| 14-74953137-A-C | c.85T>G | p.S29A | Missense | 2/5 | - | 1 |
| 14-74954059-C-T | c.83-920G>A | - | IntronicSNV | - | 1/4 | 1 |
| 14-74959056-C-T | c.82+840G>A | - | IntronicSNV | - | 1/4 | 1 |
| 14-74959891-C-G | c.82+5G>C | - | IntronicSNV | - | 1/4 | 1 |
| 14-74959891-C-T | c.82+5G>A | - | IntronicSNV | - | 1/4 | 2 |
| 14-74959894-A-G | c.82+2T>C | - | IntronicSNV | - | 1/4 | 6 |
| 14-74959898-C-CA | c.79dup | p.C27Lfs*42 | Frameshift | 1/5 | - | 1 |
| 14-74959903-C-A | c.75G>T | p.K25N | Missense | 1/5 | - | 1 |
| 14-74959903-C-G | c.75G>C | p.K25N | Missense | 1/5 | - | 1 |
| 14-74959906-G-C | c.72C>G | p.F24L | Missense | 1/5 | - | 1 |
| 14-74959906-G-GA | c.71dup | p.K25Qfs*44 | Frameshift | 1/5 | - | 1 |
| 14-74959906-G-T | c.72C>A | p.F24L | Missense | 1/5 | - | 1 |
| 14-74959908-A-G | c.70T>C | p.F24L | Missense | 1/5 | - | 1 |
| 14-74959913-A-G | c.65T>C | p.V22A | Missense | 1/5 | - | 1 |
| 14-74959913-A-T | c.65T>A | p.V22E | Missense | 1/5 | - | 1 |
| 14-74959920-C-A | c.58G>T | p.E20* | Nonsense | 1/5 | - | 34 |
| 14-74959920-C-T | c.58G>A | p.E20K | Missense | 1/5 | - | 3 |
| 14-74959921-G-A | c.57C>T | p.A19= | Synonymous | 1/5 | - | 1 |
| 14-74959921-G-C | c.57C>G | p.A19= | Synonymous | 1/5 | - | 1 |
| 14-74959921-G-T | c.57C>A | p.A19= | Synonymous | 1/5 | - | 1 |
| 14-74959922-G-T | c.56C>A | p.A19D | Missense | 1/5 | - | 2 |
| 14-74959927-GGC-TTA | c.49_51delinsTAA | p.A17* | Nonsense | 1/5 | - | 2 |
| 14-74959927-GGC-TTG | c.49_51delinsCAA | p.A17Q | Missense | 1/5 | - | 1 |
| 14-74959928-G-A | c.50C>T | p.A17V | Missense | 1/5 | - | 1 |
| 14-74959928-GC-AA | c.49_50delinsTT | p.A17F | Missense | 1/5 | - | 1 |
| 14-74959928-GC-CA | c.49_50delinsTG | p.A17C | Missense | 1/5 | - | 1 |
| 14-74959928-GC-TT | c.49_50delinsAA | p.A17N | Missense | 1/5 | - | 1 |
| 14-74959929-C-A | c.49G>T | p.A17S | Missense | 1/5 | - | 1 |
| 14-74959929-C-T | c.49G>A | p.A17T | Missense | 1/5 | - | 2 |
| 14-74959931-GC-AG | c.46_47delinsCT | p.A16L | Missense | 1/5 | - | 1 |
| 14-74959931-GC-TA | c.46_47delinsTA | p.A16Y | Missense | 1/5 | - | 1 |
| 14-74959932-C-G | c.46G>C | p.A16P | Missense | 1/5 | - | 1 |
| 14-74959937-C-T | c.41G>A | p.S14N | Missense | 1/5 | - | 1 |
| 14-74959937-CT-GC | c.40_41delinsGC | p.S14A | Missense | 1/5 | - | 5 |
| 14-74959937-CT-TC | c.40_41delinsGA | p.S14D | Missense | 1/5 | - | 1 |
| 14-74959938-T-A | c.40A>T | p.S14C | Missense | 1/5 | - | 1 |
| 14-74959939-G-C | c.39C>G | p.L13= | Synonymous | 1/5 | - | 1 |
| 14-74959940-A-G | c.38T>C | p.L13P | Missense | 1/5 | - | 2 |
| 14-74959943-GC-AG | c.34_35delinsCT | p.A12L | Missense | 1/5 | - | 1 |
| 14-74959944-C-A | c.34G>T | p.A12S | Missense | 1/5 | - | 1 |
| 14-74959949-A-C | c.29T>G | p.L10R | Missense | 1/5 | - | 1 |
| 14-74959949-AG-GC | c.28_29delinsGC | p.L10A | Missense | 1/5 | - | 2 |
| 14-74959950-G-A | c.28C>T | p.L10F | Missense | 1/5 | - | 1 |
| 14-74959951-GC-G | c.27del | p.L10Sfs*25 | Frameshift | 1/5 | - | 4 |
| 14-74959952-A-G | c.26T>C | p.L9P | Missense | 1/5 | - | 2 |
| 14-74959953-G-GA | c.24_25insT | p.L9Sfs*60 | Frameshift | 1/5 | - | 1 |
| 14-74959954-G-A | c.24C>T | p.F8= | Synonymous | 1/5 | - | 1 |
| 14-74959967-CA-C | c.11del | p.L4Rfs*31 | Frameshift | 1/5 | - | 1 |
| 14-74959967-AG-A | c.10del | p.L4Wfs*31 | Frameshift | 1/5 | - | 1 |
| 14-74959969-G-A | c.9C>T | p.F3= | Synonymous | 1/5 | - | 1 |
| 14-74959969-G-C | c.9C>G | p.F3L | Missense | 1/5 | - | 1 |
| 14-74959972-A-C | c.6T>G | p.R2= | Synonymous | 1/5 | - | 9 |
| 14-74959972-A-G | c.6T>C | p.R2= | Synonymous | 1/5 | - | 9 |
| 14-74959972-A-T | c.6T>A | p.R2= | Synonymous | 1/5 | - | 9 |
| 14-74959973-C-G | c.5G>C | p.R2P | Missense | 1/5 | - | 1 |
| 14-74959974-G-A | c.4C>T | p.R2C | Missense | 1/5 | - | 1 |
| 14-74959975-C-A | c.3G>T | p.M1? | Missense | 1/5 | - | 1 |
| 14-74959975-C-G | c.3G>C | p.M1? | Missense | 1/5 | - | 4 |
| 14-74959975-C-T | c.3G>A | p.M1? | Missense | 1/5 | - | 2 |
| 14-74959976-A-G | c.2T>C | p.M1? | Missense | 1/5 | - | 1 |
| 14-74959977-T-A | c.1A>T | p.M1? | Missense | 1/5 | - | 1 |
| 14-74959977-T-C | c.1A>G | p.M1? | Missense | 1/5 | - | 1 |
| 14-74959977-T-G | c.1A>C | p.M1? | Missense | 1/5 | - | 1 |