RET ret proto-oncogene

Canonical transcript: NM_020975

829 unique variant annotations were identified in 819 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-43572670-G-C c.-37G>C - 5-UTRSNV 1/20 - 1
10-43572731-G-A c.25G>A p.Ala9Thr Missense 1/20 - 1
10-43572734-G-A c.28G>A p.Gly10Arg Missense 1/20 - 1
10-43572734-GGG-AAC c.28_30delinsAAC p.Gly10Asn Missense 1/20 - 2
10-43572735-G-A c.29G>A p.Gly10Glu Missense 1/20 - 1
10-43572738-T-G c.32T>G p.Leu11Arg Missense 1/20 - 1
10-43572739-G-A c.33G>A p.Leu11Leu Synonymous 1/20 - 1
10-43572740-CG-GC c.34_35delinsGC p.Arg12Ala Missense 1/20 - 1
10-43572741-G-T c.35G>T p.Arg12Leu Missense 1/20 - 1
10-43572741-G-C c.35G>C p.Arg12Pro Missense 1/20 - 1
10-43572743-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/20 - 1
10-43572748-TG-T c.42del p.Leu15Cysfs*8 Frameshift 1/20 - 1
10-43572759-T-G c.53T>G p.Leu18Arg Missense 1/20 - 1
10-43572779-G-A c.73G>A p.Val25Met Missense 1/20 - 1
10-43573558-C-T c.73+779C>T - IntronicSNV - 1/19 1
10-43574592-T-C c.73+1813T>C - IntronicSNV - 1/19 1
10-43574936-T-C c.73+2157T>C - IntronicSNV - 1/19 3
10-43575599-C-T c.73+2820C>T - IntronicSNV - 1/19 1
10-43575625-T-G c.73+2846T>G - IntronicSNV - 1/19 5
10-43575883-T-C c.73+3104T>C - IntronicSNV - 1/19 1
10-43576221-G-A c.73+3442G>A - IntronicSNV - 1/19 1
10-43576249-A-T c.73+3470A>T - IntronicSNV - 1/19 2
10-43576249-A-G c.73+3470A>G - IntronicSNV - 1/19 2
10-43576567-G-C c.73+3788G>C - IntronicSNV - 1/19 1
10-43577026-G-C c.73+4247G>C - IntronicSNV - 1/19 1
10-43577026-G-A c.73+4247G>A - IntronicSNV - 1/19 1
10-43577873-A-T c.73+5094A>T - IntronicSNV - 1/19 1
10-43578779-A-C c.73+6000A>C - IntronicSNV - 1/19 4
10-43578915-T-A c.73+6136T>A - IntronicSNV - 1/19 1
10-43578915-T-G c.73+6136T>G - IntronicSNV - 1/19 1
10-43578953-A-G c.73+6174A>G - IntronicSNV - 1/19 1
10-43579073-C-T c.73+6294C>T - IntronicSNV - 1/19 1
10-43579073-C-G c.73+6294C>G - IntronicSNV - 1/19 1
10-43579530-C-T c.73+6751C>T - IntronicSNV - 1/19 1
10-43579536-G-C c.73+6757G>C - IntronicSNV - 1/19 1
10-43579536-G-A c.73+6757G>A - IntronicSNV - 1/19 1
10-43579592-T-C c.73+6813T>C - IntronicSNV - 1/19 1
10-43580015-A-C c.73+7236A>C - IntronicSNV - 1/19 1
10-43580015-A-G c.73+7236A>G - IntronicSNV - 1/19 1
10-43580215-G-A c.73+7436G>A - IntronicSNV - 1/19 1
10-43580215-G-C c.73+7436G>C - IntronicSNV - 1/19 1
10-43580224-C-A c.73+7445C>A - IntronicSNV - 1/19 1
10-43580773-G-A c.73+7994G>A - IntronicSNV - 1/19 1
10-43580773-G-C c.73+7994G>C - IntronicSNV - 1/19 1
10-43582056-T-C c.73+9277T>C - IntronicSNV - 1/19 60
10-43582273-A-T c.73+9494A>T - IntronicSNV - 1/19 5
10-43582273-A-C c.73+9494A>C - IntronicSNV - 1/19 6
10-43583150-A-G c.73+10371A>G - IntronicSNV - 1/19 3
10-43583150-A-T c.73+10371A>T - IntronicSNV - 1/19 3
10-43584148-C-T c.73+11369C>T - IntronicSNV - 1/19 2
10-43584256-T-C c.73+11477T>C - IntronicSNV - 1/19 2
10-43584416-C-T c.74-11491C>T - IntronicSNV - 1/19 1
10-43585621-T-G c.74-10286T>G - IntronicSNV - 1/19 1
10-43585874-T-C c.74-10033T>C - IntronicSNV - 1/19 1
10-43585889-T-C c.74-10018T>C - IntronicSNV - 1/19 1
10-43587859-T-C c.74-8048T>C - IntronicSNV - 1/19 1
10-43588196-G-A c.74-7711G>A - IntronicSNV - 1/19 1
10-43588313-A-G c.74-7594A>G - IntronicSNV - 1/19 2
10-43588381-T-C c.74-7526T>C - IntronicSNV - 1/19 1
10-43588429-C-T c.74-7478C>T - IntronicSNV - 1/19 1
10-43588918-A-G c.74-6989A>G - IntronicSNV - 1/19 1
10-43589649-C-A c.74-6258C>A - IntronicSNV - 1/19 1
10-43589649-C-G c.74-6258C>G - IntronicSNV - 1/19 1
10-43589649-C-T c.74-6258C>T - IntronicSNV - 1/19 1
10-43590115-T-C c.74-5792T>C - IntronicSNV - 1/19 1
10-43590240-T-C c.74-5667T>C - IntronicSNV - 1/19 1
10-43590240-T-G c.74-5667T>G - IntronicSNV - 1/19 1
10-43590868-T-C c.74-5039T>C - IntronicSNV - 1/19 1
10-43590868-T-G c.74-5039T>G - IntronicSNV - 1/19 1
10-43590901-G-T c.74-5006G>T - IntronicSNV - 1/19 1
10-43590901-G-A c.74-5006G>A - IntronicSNV - 1/19 1
10-43590901-G-C c.74-5006G>C - IntronicSNV - 1/19 1
10-43591403-A-G c.74-4504A>G - IntronicSNV - 1/19 2
10-43592158-T-C c.74-3749T>C - IntronicSNV - 1/19 1
10-43592204-A-T c.74-3703A>T - IntronicSNV - 1/19 1
10-43592809-G-C c.74-3098G>C - IntronicSNV - 1/19 1
10-43593043-A-G c.74-2864A>G - IntronicSNV - 1/19 3
10-43594453-T-C c.74-1454T>C - IntronicSNV - 1/19 3
10-43594453-T-A c.74-1454T>A - IntronicSNV - 1/19 2
10-43594528-T-A c.74-1379T>A - IntronicSNV - 1/19 1
10-43594545-C-T c.74-1362C>T - IntronicSNV - 1/19 5
10-43594578-G-A c.74-1329G>A - IntronicSNV - 1/19 1
10-43594617-T-C c.74-1290T>C - IntronicSNV - 1/19 1
10-43595194-C-G c.74-713C>G - IntronicSNV - 1/19 1
10-43595781-G-T c.74-126G>T - IntronicSNV - 1/19 9
10-43595781-G-A c.74-126G>A - IntronicSNV - 1/19 5
10-43595928-C-T c.95C>T p.Ser32Leu Missense 2/20 - 2
10-43595961-A-T c.128A>T p.Asp43Val Missense 2/20 - 1
10-43595962-C-CA c.129_130insA p.Gln44Thrfs*18 Frameshift 2/20 - 1
10-43595967-CA-AC c.134_135delinsAC p.Ala45Asp Missense 2/20 - 1
10-43595967-C-T c.134C>T p.Ala45Val Missense 2/20 - 1
10-43595968-A-T c.135A>T p.Ala45Ala Synonymous 2/20 - 24
10-43595968-A-C c.135A>C p.Ala45Ala Synonymous 2/20 - 34
10-43595968-A-G c.135A>G p.Ala45Ala Synonymous 2/20 - 35
10-43595975-A-T c.142A>T p.Thr48Ser Missense 2/20 - 1
10-43595991-TC-AG c.158_159delinsAG p.Val53Glu Missense 2/20 - 1
10-43595996-G-A c.163G>A p.Ala55Thr Missense 2/20 - 1
10-43595999-C-A c.166C>A p.Leu56Met Missense 2/20 - 8
10-43596002-C-T c.169C>T p.Arg57Trp Missense 2/20 - 1
10-43596003-G-A c.170G>A p.Arg57Gln Missense 2/20 - 1
10-43596009-C-T c.176C>T p.Ala59Val Missense 2/20 - 1
10-43596015-A-C c.182A>C p.Glu61Ala Missense 2/20 - 1
10-43596015-A-T c.182A>T p.Glu61Val Missense 2/20 - 1
10-43596027-G-C c.194G>C p.Ser65Thr Missense 2/20 - 1
10-43596033-G-GTCC c.200_201insTCC p.Arg67_Leu68insPro InFrameInsertion 2/20 - 1
10-43596033-G-A c.200G>A p.Arg67His Missense 2/20 - 1
10-43596035-CTG-GAC c.202_204delinsGAC p.Leu68Asp Missense 2/20 - 1
10-43596036-T-A c.203T>A p.Leu68Gln Missense 2/20 - 1
10-43596038-G-T c.205G>T p.Gly69Cys Missense 2/20 - 1
10-43596057-C-T c.224C>T p.Thr75Met Missense 2/20 - 1
10-43596062-C-T c.229C>T p.Arg77Cys Missense 2/20 - 7
10-43596063-GC-AA c.230_231delinsAA p.Arg77Gln Missense 2/20 - 1
10-43596063-G-A c.230G>A p.Arg77His Missense 2/20 - 1
10-43596063-G-T c.230G>T p.Arg77Leu Missense 2/20 - 1
10-43596068-C-T c.235C>T p.Arg79Trp Missense 2/20 - 2
10-43596069-G-T c.236G>T p.Arg79Leu Missense 2/20 - 1
10-43596069-G-A c.236G>A p.Arg79Gln Missense 2/20 - 1
10-43596087-G-A c.254G>A p.Trp85* Nonsense 2/20 - 4
10-43596095-A-G c.262A>G p.Ile88Val Missense 2/20 - 1
10-43596095-ATC-TGG c.262_264delinsTGG p.Ile88Trp Missense 2/20 - 1
10-43596101-G-A c.268G>A p.Glu90Lys Missense 2/20 - 2
10-43596104-GA-TG c.271_272delinsTG p.Asp91Cys Missense 2/20 - 1
10-43596105-A-C c.272A>C p.Asp91Ala Missense 2/20 - 1
10-43596110-G-A c.277G>A p.Gly93Ser Missense 2/20 - 3
10-43596111-G-C c.278G>C p.Gly93Ala Missense 2/20 - 2
10-43596113-CT-GC c.280_281delinsGC p.Leu94Ala Missense 2/20 - 1
10-43596119-T-G c.286T>G p.Tyr96Asp Missense 2/20 - 1
10-43596120-A-C c.287A>C p.Tyr96Ser Missense 2/20 - 1
10-43596122-CT-GC c.289_290delinsGC p.Leu97Ala Missense 2/20 - 1
10-43596131-AG-CC c.298_299delinsCC p.Ser100Pro Missense 2/20 - 3
10-43596131-AGC-TGA c.298_300delinsTGA p.Ser100* Nonsense 2/20 - 1
10-43596133-C-T c.300C>T p.Ser100Ser Synonymous 2/20 - 2
10-43596134-CTG-ATC c.301_303delinsATC p.Leu101Ile Missense 2/20 - 1
10-43596147-CC-AA c.314_315delinsAA p.Ser105* Nonsense 2/20 - 1
10-43596179-G-A c.337+9G>A - IntronicSNV - 2/19 2
10-43597793-G-A c.341G>A p.Arg114His Missense 3/20 - 4
10-43597804-CC-C c.352del p.Leu118Cysfs*106 Frameshift 3/20 - 1
10-43597861-T-G c.409T>G p.Cys137Gly Missense 3/20 - 2
10-43597870-C-T c.418C>T p.Pro140Ser Missense 3/20 - 1
10-43597879-GCC-ATG c.427_429delinsATG p.Ala143Met Missense 3/20 - 1
10-43597885-G-T c.433G>T p.Val145Leu Missense 3/20 - 1
10-43597885-G-C c.433G>C p.Val145Leu Missense 3/20 - 1
10-43597886-T-G c.434T>G p.Val145Gly Missense 3/20 - 5
10-43597888-T-C c.436T>C p.Tyr146His Missense 3/20 - 1
10-43597892-TTCT-T c.440_442del p.Phe147del InFrameDeletion 3/20 - 1
10-43597910-C-A c.458C>A p.Ser153Tyr Missense 3/20 - 1
10-43597910-C-T c.458C>T p.Ser153Phe Missense 3/20 - 1
10-43597916-C-T c.464C>T p.Pro155Leu Missense 3/20 - 1
10-43597918-G-T c.466G>T p.Ala156Ser Missense 3/20 - 1
10-43597922-G-A c.470G>A p.Cys157Tyr Missense 3/20 - 1
10-43597931-TC-AT c.479_480delinsAT p.Leu160His Missense 3/20 - 1
10-43597939-C-G c.487C>G p.Arg163Gly Missense 3/20 - 1
10-43597942-G-A c.490G>A p.Glu164Lys Missense 3/20 - 1
10-43597963-AG-CA c.511_512delinsCA p.Arg171Gln Missense 3/20 - 1
10-43597975-CCGC-C c.523_525del p.Arg175del InFrameDeletion 3/20 - 2
10-43597975-C-T c.523C>T p.Arg175Cys Missense 3/20 - 1
10-43597981-CG-TA c.529_530delinsTA p.Arg177* Nonsense 3/20 - 1
10-43597990-C-T c.538C>T p.Arg180* Nonsense 3/20 - 2
10-43597991-G-C c.539G>C p.Arg180Pro Missense 3/20 - 1
10-43597991-G-A c.539G>A p.Arg180Gln Missense 3/20 - 1
10-43598011-C-T c.559C>T p.Gln187* Nonsense 3/20 - 1
10-43598045-C-G c.593C>G p.Pro198Arg Missense 3/20 - 1
10-43598056-G-A c.604G>A p.Val202Met Missense 3/20 - 1
10-43598064-C-T c.612C>T p.Tyr204Tyr Synonymous 3/20 - 1
10-43598067-G-T c.615G>T p.Arg205Ser Missense 3/20 - 1
10-43598067-G-C c.615G>C p.Arg205Ser Missense 3/20 - 1
10-43600402-G-A c.628G>A p.Glu210Lys Missense 4/20 - 2
10-43600418-G-T c.644G>T p.Arg215Leu Missense 4/20 - 2
10-43600428-G-C c.654G>C p.Pro218Pro Synonymous 4/20 - 1
10-43600428-G-A c.654G>A p.Pro218Pro Synonymous 4/20 - 1
10-43600428-G-T c.654G>T p.Pro218Pro Synonymous 4/20 - 1
10-43600429-GAC-TAA c.655_657delinsTAA p.Asp219* Nonsense 4/20 - 1
10-43600435-CT-AA c.661_662delinsAA p.Leu221Lys Missense 4/20 - 1
10-43600441-G-A c.667G>A p.Val223Met Missense 4/20 - 1
10-43600442-TG-AC c.668_669delinsAC p.Val223Asp Missense 4/20 - 1
10-43600450-CG-GC c.676_677delinsGC p.Arg226Ala Missense 4/20 - 1
10-43600452-C-T c.678C>T p.Arg226Arg Synonymous 4/20 - 1
10-43600465-C-T c.691C>T p.Arg231Cys Missense 4/20 - 1
10-43600466-G-A c.692G>A p.Arg231His Missense 4/20 - 4
10-43600475-G-C c.701G>C p.Arg234Pro Missense 4/20 - 1
10-43600486-G-T c.712G>T p.Glu238* Nonsense 4/20 - 1
10-43600496-CC-AG c.722_723delinsAG p.Ala241Glu Missense 4/20 - 1
10-43600498-G-A c.724G>A p.Val242Met Missense 4/20 - 1
10-43600505-C-T c.731C>T p.Thr244Ile Missense 4/20 - 1
10-43600510-GCACGCCG-G c.736_742del p.His246Alafs*7 Frameshift 4/20 - 1
10-43600516-G-A c.742G>A p.Gly248Ser Missense 4/20 - 1
10-43600517-G-T c.743G>T p.Gly248Val Missense 4/20 - 1
10-43600524-GCG-G c.750_751del p.Glu251Glyfs*102 Frameshift 4/20 - 1
10-43600526-A-G c.752A>G p.Glu251Gly Missense 4/20 - 1
10-43600528-G-A c.754G>A p.Glu252Lys Missense 4/20 - 1
10-43600528-G-T c.754G>T p.Glu252* Nonsense 4/20 - 3
10-43600563-C-G c.789C>G p.Tyr263* Nonsense 4/20 - 3
10-43600579-G-A c.805G>A p.Ala269Thr Missense 4/20 - 1
10-43600583-C-T c.809C>T p.Pro270Leu Missense 4/20 - 3
10-43600594-CG-C c.820del p.Ala274Argfs*38 Frameshift 4/20 - 1
10-43600601-T-G c.827T>G p.Val276Gly Missense 4/20 - 1
10-43600606-A-G c.832A>G p.Thr278Ala Missense 4/20 - 1
10-43600606-A-C c.832A>C p.Thr278Pro Missense 4/20 - 1
10-43600607-C-A c.833C>A p.Thr278Asn Missense 4/20 - 5
10-43600616-C-T c.842C>T p.Ala281Val Missense 4/20 - 1
10-43600617-CC-C c.843del p.Val282Trpfs*30 Frameshift 4/20 - 1
10-43600618-G-T c.844G>T p.Val282Leu Missense 4/20 - 1
10-43600619-T-TT c.845dup p.Val283Glyfs*71 Frameshift 4/20 - 1
10-43600630-A-G c.856A>G p.Lys286Glu Missense 4/20 - 1
10-43600634-G-A c.860G>A p.Arg287Gln Missense 4/20 - 1
10-43600689-A-G c.867+48A>G - IntronicSNV - 4/19 2
10-43601415-G-C c.868-409G>C - IntronicSNV - 4/19 1
10-43601415-G-T c.868-409G>T - IntronicSNV - 4/19 1
10-43601749-T-C c.868-75T>C - IntronicSNV - 4/19 2
10-43601830-G-A c.874G>A p.Val292Met Missense 5/20 - 6
10-43601846-G-A c.890G>A p.Arg297His Missense 5/20 - 1
10-43601854-G-A c.898G>A p.Asp300Asn Missense 5/20 - 2
10-43601856-T-G c.900T>G p.Asp300Glu Missense 5/20 - 1
10-43601856-T-A c.900T>A p.Asp300Glu Missense 5/20 - 1
10-43601878-G-T c.922G>T p.Gly308Trp Missense 5/20 - 1
10-43601884-CTG-TGT c.928_930delinsTGT p.Leu310Cys Missense 5/20 - 1
10-43601893-C-T c.937C>T p.Arg313Trp Missense 5/20 - 2
10-43601893-CG-TA c.937_938delinsTA p.Arg313* Nonsense 5/20 - 1
10-43601894-G-A c.938G>A p.Arg313Gln Missense 5/20 - 2
10-43601899-A-G c.943A>G p.Thr315Ala Missense 5/20 - 1
10-43601900-C-T c.944C>T p.Thr315Ile Missense 5/20 - 43
10-43601903-G-T c.947G>T p.Ser316Ile Missense 5/20 - 1
10-43601917-GG-AA c.961_962delinsAA p.Gly321Lys Missense 5/20 - 1
10-43601917-G-T c.961G>T p.Gly321Trp Missense 5/20 - 1
10-43601917-G-A c.961G>A p.Gly321Arg Missense 5/20 - 3
10-43601917-G-C c.961G>C p.Gly321Arg Missense 5/20 - 3
10-43601928-G-C c.972G>C p.Trp324Cys Missense 5/20 - 1
10-43601937-G-A c.981G>A p.Gln327Gln Synonymous 5/20 - 1
10-43601943-C-A c.987C>A p.Phe329Leu Missense 5/20 - 1
10-43601943-C-G c.987C>G p.Phe329Leu Missense 5/20 - 1
10-43601941-T-C c.985T>C p.Phe329Leu Missense 5/20 - 1
10-43601944-C-T c.988C>T p.Arg330Trp Missense 5/20 - 1
10-43601945-G-A c.989G>A p.Arg330Gln Missense 5/20 - 2
10-43601969-CC-TG c.1013_1014delinsTG p.Thr338Met Missense 5/20 - 1
10-43601969-C-T c.1013C>T p.Thr338Ile Missense 5/20 - 3
10-43601980-GC-CT c.1024_1025delinsCT p.Ala342Leu Missense 5/20 - 1
10-43601981-C-G c.1025C>G p.Ala342Gly Missense 5/20 - 1
10-43601998-C-T c.1042C>T p.Arg348Trp Missense 5/20 - 1
10-43602028-G-A c.1063+9G>A - IntronicSNV - 5/19 1
10-43603012-C-G c.1063+993C>G - IntronicSNV - 5/19 2
10-43603012-C-T c.1063+993C>T - IntronicSNV - 5/19 2
10-43603043-A-AAACA c.1063+1024_1063+1025insAACA - IntronicInsertion - 5/19 1
10-43603462-G-A c.1064-1017G>A - IntronicSNV - 5/19 1
10-43603919-G-A c.1064-560G>A - IntronicSNV - 5/19 1
10-43604148-A-C c.1064-331A>C - IntronicSNV - 5/19 1
10-43604390-A-T c.1064-89A>T - IntronicSNV - 5/19 1
10-43604493-C-T c.1078C>T p.Arg360Trp Missense 6/20 - 4
10-43604498-C-G c.1083C>G p.Asn361Lys Missense 6/20 - 1
10-43604498-C-A c.1083C>A p.Asn361Lys Missense 6/20 - 1
10-43604524-T-C c.1109T>C p.Met370Thr Missense 6/20 - 1
10-43604533-C-T c.1118C>T p.Ala373Val Missense 6/20 - 3
10-43604542-T-C c.1127T>C p.Val376Ala Missense 6/20 - 1
10-43604572-C-T c.1157C>T p.Ala386Val Missense 6/20 - 1
10-43604580-C-T c.1165C>T p.Leu389Phe Missense 6/20 - 1
10-43604593-T-A c.1178T>A p.Phe393Tyr Missense 6/20 - 1
10-43604597-C-G c.1182C>G p.Asn394Lys Missense 6/20 - 1
10-43604597-C-A c.1182C>A p.Asn394Lys Missense 6/20 - 1
10-43604602-C-T c.1187C>T p.Ser396Leu Missense 6/20 - 1
10-43604604-G-A c.1189G>A p.Val397Met Missense 6/20 - 1
10-43604608-T-C c.1193T>C p.Leu398Pro Missense 6/20 - 1
10-43604611-C-T c.1196C>T p.Pro399Leu Missense 6/20 - 1
10-43604626-T-C c.1211T>C p.Leu404Pro Missense 6/20 - 1
10-43604640-T-A c.1225T>A p.Ser409Thr Missense 6/20 - 1
10-43604643-C-G c.1228C>G p.Leu410Val Missense 6/20 - 1
10-43604646-T-A c.1231T>A p.Ser411Thr Missense 6/20 - 1
10-43604649-G-A c.1234G>A p.Val412Met Missense 6/20 - 1
10-43604653-G-C c.1238G>C p.Ser413Thr Missense 6/20 - 1
10-43604667-C-T c.1252C>T p.Arg418* Nonsense 6/20 - 1
10-43604676-C-T c.1261C>T p.Gln421* Nonsense 6/20 - 1
10-43604677-A-C c.1262A>C p.Gln421Pro Missense 6/20 - 1
10-43604683-G-A c.1263+5G>A - IntronicSNV - 6/19 1
10-43604950-A-G c.1263+272A>G - IntronicSNV - 6/19 1
10-43605392-G-C c.1263+714G>C - IntronicSNV - 6/19 1
10-43605392-G-A c.1263+714G>A - IntronicSNV - 6/19 1
10-43606650-C-G c.1264-5C>G - IntronicSNV - 6/19 1
10-43606650-C-T c.1264-5C>T - IntronicSNV - 6/19 1
10-43606654-G-T c.1264-1G>T - IntronicSNV - 6/19 1
10-43606658-G-A c.1267G>A p.Gly423Arg Missense 7/20 - 2
10-43606679-TG-AC c.1288_1289delinsAC p.Cys430Thr Missense 7/20 - 1
10-43606686-C-T c.1295C>T p.Ala432Val Missense 7/20 - 1
10-43606687-A-T c.1296A>T p.Ala432Ala Synonymous 7/20 - 11
10-43606687-A-G c.1296A>G p.Ala432Ala Synonymous 7/20 - 22
10-43606687-A-C c.1296A>C p.Ala432Ala Synonymous 7/20 - 11
10-43606694-G-C c.1303G>C p.Gly435Arg Missense 7/20 - 1
10-43606695-G-T c.1304G>T p.Gly435Val Missense 7/20 - 1
10-43606702-C-G c.1311C>G p.Asn437Lys Missense 7/20 - 1
10-43606716-T-C c.1325T>C p.Leu442Pro Missense 7/20 - 1
10-43606727-G-C c.1336G>C p.Gly446Arg Missense 7/20 - 1
10-43606743-C-T c.1352C>T p.Thr451Met Missense 7/20 - 1
10-43606745-C-A c.1354C>A p.Leu452Ile Missense 7/20 - 1
10-43606761-C-A c.1370C>A p.Ser457* Nonsense 7/20 - 1
10-43606773-C-T c.1382C>T p.Thr461Ile Missense 7/20 - 1
10-43606778-G-A c.1387G>A p.Gly463Arg Missense 7/20 - 1
10-43606781-A-G c.1390A>G p.Ile464Val Missense 7/20 - 1
10-43606781-AT-GC c.1390_1391delinsGC p.Ile464Ala Missense 7/20 - 1
10-43606786-G-C c.1395G>C p.Leu465Leu Synonymous 7/20 - 1
10-43606786-G-A c.1395G>A p.Leu465Leu Synonymous 7/20 - 1
10-43606786-G-T c.1395G>T p.Leu465Leu Synonymous 7/20 - 1
10-43606784-C-T c.1393C>T p.Leu465Leu Synonymous 7/20 - 1
10-43606791-T-C c.1400T>C p.Val467Ala Missense 7/20 - 1
10-43606808-C-T c.1417C>T p.Leu473Leu Synonymous 7/20 - 1
10-43606809-T-A c.1418T>A p.Leu473Gln Missense 7/20 - 1
10-43606814-C-T c.1423C>T p.Arg475Trp Missense 7/20 - 1
10-43606815-G-A c.1424G>A p.Arg475Gln Missense 7/20 - 1
10-43606817-C-T c.1426C>T p.Pro476Ser Missense 7/20 - 1
10-43606829-G-A c.1438G>A p.Glu480Lys Missense 7/20 - 1
10-43606853-A-T c.1462A>T p.Thr488Ser Missense 7/20 - 1
10-43606854-C-G c.1463C>G p.Thr488Ser Missense 7/20 - 1
10-43606856-G-A c.1465G>A p.Asp489Asn Missense 7/20 - 7
10-43606872-G-T c.1481G>T p.Arg494Met Missense 7/20 - 1
10-43606879-C-T c.1488C>T p.Ala496Ala Synonymous 7/20 - 1
10-43606880-C-T c.1489C>T p.Gln497* Nonsense 7/20 - 1
10-43606971-C-A c.1522+58C>A - IntronicSNV - 7/19 1
10-43607553-C-T c.1529C>T p.Ala510Val Missense 8/20 - 1
10-43607555-G-A c.1531G>A p.Glu511Lys Missense 8/20 - 3
10-43607562-C-T c.1538C>T p.Ala513Val Missense 8/20 - 1
10-43607562-C-G c.1538C>G p.Ala513Gly Missense 8/20 - 4
10-43607568-G-C c.1544G>C p.Cys515Ser Missense 8/20 - 5
10-43607567-T-A c.1543T>A p.Cys515Ser Missense 8/20 - 5
10-43607569-C-G c.1545C>G p.Cys515Trp Missense 8/20 - 1
10-43607570-C-T c.1546C>T p.Pro516Ser Missense 8/20 - 1
10-43607595-G-A c.1571G>A p.Arg524Lys Missense 8/20 - 1
10-43607597-C-T c.1573C>T p.Arg525Trp Missense 8/20 - 2
10-43607598-G-A c.1574G>A p.Arg525Gln Missense 8/20 - 1
10-43607615-T-C c.1591T>C p.Cys531Arg Missense 8/20 - 3
10-43607621-G-A c.1597G>A p.Gly533Ser Missense 8/20 - 1
10-43607621-G-T c.1597G>T p.Gly533Cys Missense 8/20 - 23
10-43607648-G-A c.1624G>A p.Glu542Lys Missense 8/20 - 3
10-43607651-T-A c.1627T>A p.Trp543Arg Missense 8/20 - 2
10-43607660-GG-AA c.1636_1637delinsAA p.Gly546Lys Missense 8/20 - 1
10-43607666-G-A c.1642G>A p.Gly548Ser Missense 8/20 - 2
10-43607667-G-T c.1643G>T p.Gly548Val Missense 8/20 - 1
10-43607756-G-A c.1648+84G>A - IntronicSNV - 8/19 5
10-43607760-GC-G c.1648+88del - IntronicDeletion - 8/19 1
10-43608308-CC-C c.1656del p.Arg553Glyfs*85 Frameshift 9/20 - 1
10-43608330-C-T c.1678C>T p.Pro560Ser Missense 9/20 - 1
10-43608351-GAC-CAA c.1699_1701delinsCAA p.Asp567Gln Missense 9/20 - 1
10-43608351-G-A c.1699G>A p.Asp567Asn Missense 9/20 - 1
10-43608353-C-A c.1701C>A p.Asp567Glu Missense 9/20 - 1
10-43608354-GGC-TGG c.1702_1704delinsTGG p.Gly568Trp Missense 9/20 - 1
10-43608362-C-A c.1710C>A p.Cys570* Nonsense 9/20 - 2
10-43608385-T-G c.1733T>G p.Ile578Ser Missense 9/20 - 1
10-43608389-C-A c.1737C>A p.Asn579Lys Missense 9/20 - 1
10-43608389-C-G c.1737C>G p.Asn579Lys Missense 9/20 - 1
10-43608412-G-A c.1759+1G>A - IntronicSNV - 9/19 1
10-43608807-G-T c.1760-197G>T - IntronicSNV - 9/19 1
10-43608864-C-G c.1760-140C>G - IntronicSNV - 9/19 1
10-43609007-GG-G c.1763del p.Gly588Alafs*50 Frameshift 10/20 - 2
10-43609019-G-A c.1775G>A p.Gly592Glu Missense 10/20 - 1
10-43609020-G-A c.1776G>A p.Gly592Gly Synonymous 10/20 - 1
10-43609021-G-T c.1777G>T p.Gly593* Nonsense 10/20 - 2
10-43609022-G-A c.1778G>A p.Gly593Glu Missense 10/20 - 2
10-43609027-G-A c.1783G>A p.Glu595Lys Missense 10/20 - 1
10-43609031-C-T c.1787C>T p.Pro596Leu Missense 10/20 - 1
10-43609043-G-T c.1799G>T p.Arg600Leu Missense 10/20 - 1
10-43609043-G-A c.1799G>A p.Arg600Gln Missense 10/20 - 5
10-43609051-A-C c.1807A>C p.Lys603Gln Missense 10/20 - 3
10-43609051-A-G c.1807A>G p.Lys603Glu Missense 10/20 - 3
10-43609058-G-A c.1814G>A p.Gly605Asp Missense 10/20 - 1
10-43609061-A-G c.1817A>G p.Tyr606Cys Missense 10/20 - 6
10-43609069-TG-AC c.1825_1826delinsAC p.Cys609Thr Missense 10/20 - 2
10-43609069-T-G c.1825T>G p.Cys609Gly Missense 10/20 - 3
10-43609069-T-C c.1825T>C p.Cys609Arg Missense 10/20 - 9
10-43609070-G-C c.1826G>C p.Cys609Ser Missense 10/20 - 11
10-43609070-G-T c.1826G>T p.Cys609Phe Missense 10/20 - 9
10-43609070-G-A c.1826G>A p.Cys609Tyr Missense 10/20 - 17
10-43609071-C-T c.1827C>T p.Cys609Cys Synonymous 10/20 - 1
10-43609071-C-G c.1827C>G p.Cys609Trp Missense 10/20 - 2
10-43609071-C-A c.1827C>A p.Cys609* Nonsense 10/20 - 1
10-43609076-G-C c.1832G>C p.Cys611Ser Missense 10/20 - 2
10-43609075-T-A c.1831T>A p.Cys611Ser Missense 10/20 - 2
10-43609075-T-C c.1831T>C p.Cys611Arg Missense 10/20 - 12
10-43609075-T-G c.1831T>G p.Cys611Gly Missense 10/20 - 2
10-43609076-G-T c.1832G>T p.Cys611Phe Missense 10/20 - 10
10-43609076-G-A c.1832G>A p.Cys611Tyr Missense 10/20 - 13
10-43609076-GC-AT c.1832_1833delinsAT p.Cys611Tyr Missense 10/20 - 2
10-43609077-C-G c.1833C>G p.Cys611Trp Missense 10/20 - 8
10-43609090-GGAG-G c.1846_1848del p.Glu616del InFrameDeletion 10/20 - 1
10-43609097-G-C c.1853G>C p.Cys618Ser Missense 10/20 - 29
10-43609096-T-A c.1852T>A p.Cys618Ser Missense 10/20 - 27
10-43609096-T-C c.1852T>C p.Cys618Arg Missense 10/20 - 31
10-43609096-T-G c.1852T>G p.Cys618Gly Missense 10/20 - 12
10-43609097-G-T c.1853G>T p.Cys618Phe Missense 10/20 - 19
10-43609097-G-A c.1853G>A p.Cys618Tyr Missense 10/20 - 15
10-43609098-C-A c.1854C>A p.Cys618* Nonsense 10/20 - 1
10-43609098-C-G c.1854C>G p.Cys618Trp Missense 10/20 - 1
10-43609102-TG-CT c.1858_1859delinsCT p.Cys620Leu Missense 10/20 - 2
10-43609102-TG-GC c.1858_1859delinsGC p.Cys620Ala Missense 10/20 - 1
10-43609102-T-C c.1858T>C p.Cys620Arg Missense 10/20 - 48
10-43609102-T-A c.1858T>A p.Cys620Ser Missense 10/20 - 10
10-43609102-T-G c.1858T>G p.Cys620Gly Missense 10/20 - 4
10-43609102-CTGC-C c.1858_1860del p.Cys620del InFrameDeletion 10/20 - 1
10-43609103-G-A c.1859G>A p.Cys620Tyr Missense 10/20 - 5
10-43609103-G-T c.1859G>T p.Cys620Phe Missense 10/20 - 16
10-43609104-C-G c.1860C>G p.Cys620Trp Missense 10/20 - 7
10-43609104-C-A c.1860C>A p.Cys620* Nonsense 10/20 - 1
10-43609110-C-T c.1866C>T p.Pro622Pro Synonymous 10/20 - 1
10-43609111-G-A c.1867G>A p.Glu623Lys Missense 10/20 - 2
10-43609124-G-A c.1879+1G>A - IntronicSNV - 10/19 1
10-43609547-C-T c.1880-381C>T - IntronicSNV - 10/19 1
10-43609912-C-T c.1880-16C>T - IntronicSNV - 10/19 1
10-43609924-A-G c.1880-4A>G - IntronicSNV - 10/19 2
10-43609928-A-G c.1880A>G p.Asp627Gly Missense 11/20 - 1
10-43609929-AT-A c.1881del p.Pro628Hisfs*10 Frameshift 11/20 - 1
10-43609930-C-T c.1882C>T p.Pro628Ser Missense 11/20 - 1
10-43609933-ACTGTGCGACGAGCTG-A c.1885_1899del p.Leu629_Leu633del InFrameDeletion 11/20 - 1
10-43609934-CTGTGCG-C c.1886_1891del p.Leu629_Asp631delinsHis MultiAAMissense 11/20 - 1
10-43609936-T-C c.1888T>C p.Cys630Arg Missense 11/20 - 21
10-43609936-T-G c.1888T>G p.Cys630Gly Missense 11/20 - 1
10-43609937-G-C c.1889G>C p.Cys630Ser Missense 11/20 - 3
10-43609936-T-A c.1888T>A p.Cys630Ser Missense 11/20 - 3
10-43609937-G-T c.1889G>T p.Cys630Phe Missense 11/20 - 1
10-43609937-G-A c.1889G>A p.Cys630Tyr Missense 11/20 - 4
10-43609938-C-T c.1890C>T p.Cys630Cys Synonymous 11/20 - 1
10-43609939-G-T c.1891G>T p.Asp631Tyr Missense 11/20 - 16
10-43609939-GA-AC c.1891_1892delinsAC p.Asp631Thr Missense 11/20 - 1
10-43609940-A-G c.1892A>G p.Asp631Gly Missense 11/20 - 1
10-43609940-A-T c.1892A>T p.Asp631Val Missense 11/20 - 2
10-43609941-C-T c.1893C>T p.Asp631Asp Synonymous 11/20 - 2
10-43609941-C-A c.1893C>A p.Asp631Glu Missense 11/20 - 2
10-43609941-C-G c.1893C>G p.Asp631Glu Missense 11/20 - 2
10-43609941-ACGAGCT-A c.1893_1898del p.Asp631_Leu633delinsGlu MultiAAMissense 11/20 - 1
10-43609942-CGAGCTGTGC-C c.1894_1902del p.Glu632_Cys634del InFrameDeletion 11/20 - 1
10-43609942-CGAGCTGTGCCG-C c.1894_1904del p.Glu632Hisfs*38 Frameshift 11/20 - 1
10-43609942-CGAGCTG-C c.1894_1899del p.Glu632_Leu633del InFrameDeletion 11/20 - 3
10-43609942-G-A c.1894G>A p.Glu632Lys Missense 11/20 - 3
10-43609943-GAGCTGTGCCGCACGGTGATCG-G c.1895_1915del p.Glu632_Ile638del InFrameDeletion 11/20 - 1
10-43609945-GCTG-G c.1897_1899del p.Leu633del InFrameDeletion 11/20 - 6
10-43609945-C-G c.1897C>G p.Leu633Val Missense 11/20 - 1
10-43609948-TG-GC c.1900_1901delinsGC p.Cys634Ala Missense 11/20 - 3
10-43609948-TGC-AAG c.1900_1902delinsAAG p.Cys634Lys Missense 11/20 - 2
10-43609948-T-C c.1900T>C p.Cys634Arg Missense 11/20 - 156
10-43609948-T-A c.1900T>A p.Cys634Ser Missense 11/20 - 19
10-43609948-GTGC-G c.1900_1902del p.Cys634del InFrameDeletion 11/20 - 1
10-43609948-TGCCGCACG-TGCCGCACGTGCCGCACG c.1900_1908dup p.Cys634_Thr636dup InFrameInsertion 11/20 - 2
10-43609949-G-C c.1901G>C p.Cys634Ser Missense 11/20 - 18
10-43609948-TG-CT c.1900_1901delinsCT p.Cys634Leu Missense 11/20 - 1
10-43609948-T-G c.1900T>G p.Cys634Gly Missense 11/20 - 20
10-43609949-G-T c.1901G>T p.Cys634Phe Missense 11/20 - 25
10-43609949-G-A c.1901G>A p.Cys634Tyr Missense 11/20 - 92
10-43609950-CC-GG c.1902_1903inv p.Cys634_Arg635delinsTrpGly MultiAAMissense 11/20 - 1
10-43609950-C-T c.1902C>T p.Cys634Cys Synonymous 11/20 - 1
10-43609950-C-G c.1902C>G p.Cys634Trp Missense 11/20 - 84
10-43609950-C-A c.1902C>A p.Cys634* Nonsense 11/20 - 1
10-43609951-C-CCTAAGC c.1903_1904insCTAAGC p.Cys634_Arg635insProLys InFrameInsertion 11/20 - 1
10-43609951-C-T c.1903C>T p.Arg635Cys Missense 11/20 - 1
10-43609951-C-G c.1903C>G p.Arg635Gly Missense 11/20 - 1
10-43609954-A-C c.1906A>C p.Thr636Pro Missense 11/20 - 4
10-43609954-ACGGTG-TGTAGGACA c.1906_1911delinsTGTAGGACA p.Thr636_Val637delinsCysArgThr MultiAAMissense 11/20 - 1
10-43609954-CACG-C c.1906_1908del p.Thr636del InFrameDeletion 11/20 - 1
10-43609955-C-T c.1907C>T p.Thr636Met Missense 11/20 - 3
10-43609956-G-GTGCCG c.1908_1909insTGCCG p.Val637Cysfs*3 Frameshift 11/20 - 1
10-43609960-GATCGCAG-G c.1912_1918del p.Ile638Profs*35 Frameshift 11/20 - 1
10-43609962-TC-T c.1914del p.Ile638Metfs*37 Frameshift 11/20 - 1
10-43609962-C-G c.1914C>G p.Ile638Met Missense 11/20 - 1
10-43609965-CAGC-C c.1917_1919del p.Ala641del InFrameDeletion 11/20 - 1
10-43609967-C-G c.1919C>G p.Ala640Gly Missense 11/20 - 5
10-43609968-C-A c.1920C>A p.Ala640Ala Synonymous 11/20 - 1
10-43609968-C-G c.1920C>G p.Ala640Ala Synonymous 11/20 - 1
10-43609968-C-T c.1920C>T p.Ala640Ala Synonymous 11/20 - 1
10-43609969-G-A c.1921G>A p.Ala641Thr Missense 11/20 - 2
10-43609969-G-T c.1921G>T p.Ala641Ser Missense 11/20 - 2
10-43609989-C-T c.1941C>T p.Ile647Ile Synonymous 11/20 - 2
10-43609990-G-A c.1942G>A p.Val648Ile Missense 11/20 - 5
10-43609994-C-T c.1946C>T p.Ser649Leu Missense 11/20 - 8
10-43609995-G-A c.1947G>A p.Ser649Ser Synonymous 11/20 - 3
10-43610001-G-C c.1953G>C p.Leu651Leu Synonymous 11/20 - 1
10-43610001-G-T c.1953G>T p.Leu651Leu Synonymous 11/20 - 1
10-43609999-C-T c.1951C>T p.Leu651Leu Synonymous 11/20 - 1
10-43610001-G-A c.1953G>A p.Leu651Leu Synonymous 11/20 - 1
10-43610005-T-A c.1957T>A p.Ser653Thr Missense 11/20 - 1
10-43610006-C-G c.1958C>G p.Ser653Cys Missense 11/20 - 1
10-43610039-C-A c.1991C>A p.Ala664Asp Missense 11/20 - 5
10-43610043-C-G c.1995C>G p.His665Gln Missense 11/20 - 1
10-43610043-C-A c.1995C>A p.His665Gln Missense 11/20 - 1
10-43610044-A-G c.1996A>G p.Lys666Glu Missense 11/20 - 16
10-43610044-A-C c.1996A>C p.Lys666Gln Missense 11/20 - 1
10-43610045-A-G c.1997A>G p.Lys666Arg Missense 11/20 - 1
10-43610045-A-T c.1997A>T p.Lys666Met Missense 11/20 - 2
10-43610046-G-T c.1998G>T p.Lys666Asn Missense 11/20 - 3
10-43610071-A-G c.2023A>G p.Thr675Ala Missense 11/20 - 1
10-43610071-AC-GA c.2023_2024delinsGA p.Thr675Asp Missense 11/20 - 1
10-43610085-C-T c.2037C>T p.Pro679Pro Synonymous 11/20 - 1
10-43610086-G-A c.2038G>A p.Ala680Thr Missense 11/20 - 1
10-43610089-C-G c.2041C>G p.Gln681Glu Missense 11/20 - 1
10-43610091-G-C c.2043G>C p.Gln681His Missense 11/20 - 1
10-43610101-G-A c.2053G>A p.Val685Ile Missense 11/20 - 1
10-43610105-G-A c.2057G>A p.Ser686Asn Missense 11/20 - 1
10-43610107-TAC-GAG c.2059_2061delinsGAG p.Tyr687Glu Missense 11/20 - 1
10-43610108-A-T c.2060A>T p.Tyr687Phe Missense 11/20 - 3
10-43610111-C-T c.2063C>T p.Ser688Phe Missense 11/20 - 1
10-43610119-G-C c.2071G>C p.Gly691Arg Missense 11/20 - 8
10-43610119-G-A c.2071G>A p.Gly691Ser Missense 11/20 - 89
10-43610119-G-T c.2071G>T p.Gly691Cys Missense 11/20 - 8
10-43610123-CC-AA c.2075_2076delinsAA p.Ala692Glu Missense 11/20 - 1
10-43610125-C-T c.2077C>T p.Arg693Cys Missense 11/20 - 1
10-43610126-G-A c.2078G>A p.Arg693His Missense 11/20 - 1
10-43610128-CG-GC c.2080_2081delinsGC p.Arg694Ala Missense 11/20 - 1
10-43610129-G-A c.2081G>A p.Arg694Gln Missense 11/20 - 2
10-43610134-T-G c.2086T>G p.Ser696Ala Missense 11/20 - 1
10-43610158-G-T c.2110G>T p.Val704Phe Missense 11/20 - 2
10-43610167-G-A c.2119G>A p.Asp707Asn Missense 11/20 - 5
10-43610169-T-A c.2121T>A p.Asp707Glu Missense 11/20 - 1
10-43610178-G-T c.2130G>T p.Lys710Asn Missense 11/20 - 2
10-43610178-G-C c.2130G>C p.Lys710Asn Missense 11/20 - 2
10-43610181-C-G c.2133C>G p.Ile711Met Missense 11/20 - 1
10-43610256-G-A c.2136+72G>A - IntronicSNV - 11/19 1
10-43610335-G-A c.2136+151G>A - IntronicSNV - 11/19 1
10-43610366-G-T c.2136+182G>T - IntronicSNV - 11/19 2
10-43610366-G-A c.2136+182G>A - IntronicSNV - 11/19 4
10-43610455-T-C c.2136+271T>C - IntronicSNV - 11/19 2
10-43610456-G-A c.2136+272G>A - IntronicSNV - 11/19 1
10-43610558-C-T c.2136+374C>T - IntronicSNV - 11/19 3
10-43610558-C-A c.2136+374C>A - IntronicSNV - 11/19 1
10-43610621-T-C c.2136+437T>C - IntronicSNV - 11/19 1
10-43610654-G-A c.2136+470G>A - IntronicSNV - 11/19 1
10-43610671-G-T c.2136+487G>T - IntronicSNV - 11/19 3
10-43610693-G-T c.2136+509G>T - IntronicSNV - 11/19 1
10-43610772-C-G c.2136+588C>G - IntronicSNV - 11/19 1
10-43610786-T-C c.2136+602T>C - IntronicSNV - 11/19 1
10-43610897-C-T c.2136+713C>T - IntronicSNV - 11/19 1
10-43611238-T-C c.2137-794T>C - IntronicSNV - 11/19 1
10-43611288-A-G c.2137-744A>G - IntronicSNV - 11/19 1
10-43611541-T-G c.2137-491T>G - IntronicSNV - 11/19 1
10-43611648-C-T c.2137-384C>T - IntronicSNV - 11/19 1
10-43611708-A-G c.2137-324A>G - IntronicSNV - 11/19 2
10-43611865-T-C c.2137-167T>C - IntronicSNV - 11/19 2
10-43612038-C-T c.2143C>T p.Pro715Ser Missense 12/20 - 1
10-43612043-G-T c.2148G>T p.Lys716Asn Missense 12/20 - 1
10-43612043-G-C c.2148G>C p.Lys716Asn Missense 12/20 - 1
10-43612044-TG-GC c.2149_2150delinsGC p.Trp717Ala Missense 12/20 - 1
10-43612045-GG-TT c.2150_2151delinsTT p.Trp717Phe Missense 12/20 - 1
10-43612083-C-G c.2188C>G p.Leu730Val Missense 12/20 - 2
10-43612083-C-A c.2188C>A p.Leu730Ile Missense 12/20 - 2
10-43612087-GGAG-G c.2192_2194del p.Gly731del InFrameDeletion 12/20 - 1
10-43612087-G-A c.2192G>A p.Gly731Glu Missense 12/20 - 1
10-43612089-G-A c.2194G>A p.Glu732Lys Missense 12/20 - 1
10-43612096-A-C c.2201A>C p.Glu734Ala Missense 12/20 - 1
10-43612108-T-C c.2213T>C p.Val738Ala Missense 12/20 - 1
10-43612117-C-G c.2222C>G p.Ala741Gly Missense 12/20 - 1
10-43612120-C-T c.2225C>T p.Thr742Met Missense 12/20 - 1
10-43612141-G-A c.2246G>A p.Arg749Lys Missense 12/20 - 1
10-43612143-G-A c.2248G>A p.Ala750Thr Missense 12/20 - 1
10-43612143-G-C c.2248G>C p.Ala750Pro Missense 12/20 - 2
10-43612144-C-G c.2249C>G p.Ala750Gly Missense 12/20 - 1
10-43612144-GCAG-G c.2249_2251del p.Ala750del InFrameDeletion 12/20 - 1
10-43612150-A-G c.2255A>G p.Tyr752Cys Missense 12/20 - 1
10-43612162-C-A c.2267C>A p.Ala756Asp Missense 12/20 - 1
10-43612162-C-T c.2267C>T p.Ala756Val Missense 12/20 - 1
10-43612167-AA-GC c.2272_2273delinsGC p.Lys758Ala Missense 12/20 - 1
10-43612168-A-G c.2273A>G p.Lys758Arg Missense 12/20 - 5
10-43612168-A-T c.2273A>T p.Lys758Met Missense 12/20 - 12
10-43612225-G-C c.2284+46G>C - IntronicSNV - 12/19 1
10-43612226-C-G c.2284+47C>G - IntronicSNV - 12/19 1
10-43612226-C-A c.2284+47C>A - IntronicSNV - 12/19 1
10-43612226-C-T c.2284+47C>T - IntronicSNV - 12/19 3
10-43612609-C-T c.2284+430C>T - IntronicSNV - 12/19 7
10-43613072-C-T c.2285-749C>T - IntronicSNV - 12/19 1
10-43613108-G-A c.2285-713G>A - IntronicSNV - 12/19 1
10-43613422-C-G c.2285-399C>G - IntronicSNV - 12/19 1
10-43613825-C-T c.2289C>T p.Asn763Asn Synonymous 13/20 - 1
10-43613829-T-C c.2293T>C p.Ser765Pro Missense 13/20 - 2
10-43613833-C-T c.2297C>T p.Pro766Leu Missense 13/20 - 1
10-43613834-G-T c.2298G>T p.Pro766Pro Synonymous 13/20 - 1
10-43613837-T-A c.2301T>A p.Ser767Arg Missense 13/20 - 2
10-43613837-T-G c.2301T>G p.Ser767Arg Missense 13/20 - 2
10-43613835-A-C c.2299A>C p.Ser767Arg Missense 13/20 - 2
10-43613838-G-C c.2302G>C p.Glu768Gln Missense 13/20 - 1
10-43613838-GAG-AAC c.2302_2304delinsAAC p.Glu768Asn Missense 13/20 - 2
10-43613840-G-T c.2304G>T p.Glu768Asp Missense 13/20 - 29
10-43613840-G-A c.2304G>A p.Glu768Glu Synonymous 13/20 - 1
10-43613840-G-C c.2304G>C p.Glu768Asp Missense 13/20 - 29
10-43613841-CT-GC c.2305_2306delinsGC p.Leu769Ala Missense 13/20 - 1
10-43613843-G-T c.2307G>T p.Leu769Leu Synonymous 13/20 - 59
10-43613843-G-C c.2307G>C p.Leu769Leu Synonymous 13/20 - 46
10-43613843-G-A c.2307G>A p.Leu769Leu Synonymous 13/20 - 56
10-43613843-GC-TT c.2307_2308delinsTT p.Arg770* Missense 13/20 - 1
10-43613841-C-T c.2305C>T p.Leu769Leu Synonymous 13/20 - 46
10-43613844-CG-GC c.2308_2309delinsGC p.Arg770Ala Missense 13/20 - 1
10-43613844-C-T c.2308C>T p.Arg770* Nonsense 13/20 - 5
10-43613845-G-A c.2309G>A p.Arg770Gln Missense 13/20 - 1
10-43613850-CT-GC c.2314_2315delinsGC p.Leu772Ala Missense 13/20 - 1
10-43613853-CT-GC c.2317_2318delinsGC p.Leu773Ala Missense 13/20 - 1
10-43613864-C-G c.2328C>G p.Phe776Leu Missense 13/20 - 1
10-43613862-T-C c.2326T>C p.Phe776Leu Missense 13/20 - 1
10-43613864-C-A c.2328C>A p.Phe776Leu Missense 13/20 - 1
10-43613866-A-G c.2330A>G p.Asn777Ser Missense 13/20 - 4
10-43613868-G-A c.2332G>A p.Val778Ile Missense 13/20 - 9
10-43613869-T-A c.2333T>A p.Val778Asp Missense 13/20 - 1
10-43613869-GT-G c.2333del p.Val778Alafs*2 Frameshift 13/20 - 3
10-43613878-A-G c.2342A>G p.Gln781Arg Missense 13/20 - 5
10-43613888-C-T c.2352C>T p.His784His Synonymous 13/20 - 1
10-43613899-T-A c.2363T>A p.Ile788Asn Missense 13/20 - 3
10-43613900-C-T c.2364C>T p.Ile788Ile Synonymous 13/20 - 1
10-43613906-G-T c.2370G>T p.Leu790Phe Missense 13/20 - 38
10-43613906-G-C c.2370G>C p.Leu790Phe Missense 13/20 - 35
10-43613907-T-A c.2371T>A p.Tyr791Asn Missense 13/20 - 5
10-43613908-A-G c.2372A>G p.Tyr791Cys Missense 13/20 - 1
10-43613908-A-T c.2372A>T p.Tyr791Phe Missense 13/20 - 62
10-43613925-G-A c.2389G>A p.Asp797Asn Missense 13/20 - 1
10-43613926-A-T c.2390A>T p.Asp797Val Missense 13/20 - 1
10-43613960-C-T c.2392+32C>T - IntronicSNV - 13/19 1
10-43614087-G-A c.2392+159G>A - IntronicSNV - 13/19 2
10-43614230-G-A c.2392+302G>A - IntronicSNV - 13/19 2
10-43614320-G-A c.2392+392G>A - IntronicSNV - 13/19 1
10-43614442-G-A c.2392+514G>A - IntronicSNV - 13/19 2
10-43614460-G-A c.2393-519G>A - IntronicSNV - 13/19 1
10-43614885-C-T c.2393-94C>T - IntronicSNV - 13/19 2
10-43614885-C-G c.2393-94C>G - IntronicSNV - 13/19 1
10-43614996-G-C c.2410G>C p.Val804Leu Missense 14/20 - 62
10-43614996-G-T c.2410G>T p.Val804Leu Missense 14/20 - 61
10-43614996-GT-AG c.2410_2411delinsAG p.Val804Arg Missense 14/20 - 1
10-43614996-G-A c.2410G>A p.Val804Met Missense 14/20 - 130
10-43614997-T-C c.2411T>C p.Val804Ala Missense 14/20 - 1
10-43614997-T-G c.2411T>G p.Val804Gly Missense 14/20 - 2
10-43614999-G-A c.2413G>A p.Glu805Lys Missense 14/20 - 11
10-43615002-T-A c.2416T>A p.Tyr806Asn Missense 14/20 - 1
10-43615003-A-G c.2417A>G p.Tyr806Cys Missense 14/20 - 28
10-43615004-C-T c.2418C>T p.Tyr806Tyr Synonymous 14/20 - 1
10-43615006-C-T c.2420C>T p.Ala807Val Missense 14/20 - 1
10-43615008-A-G c.2422A>G p.Lys808Glu Missense 14/20 - 1
10-43615014-G-A c.2428G>A p.Gly810Ser Missense 14/20 - 2
10-43615015-G-C c.2429G>C p.Gly810Ala Missense 14/20 - 5
10-43615018-C-T c.2432C>T p.Ser811Phe Missense 14/20 - 1
10-43615023-C-T c.2437C>T p.Arg813Trp Missense 14/20 - 2
10-43615024-G-A c.2438G>A p.Arg813Gln Missense 14/20 - 1
10-43615035-C-T c.2449C>T p.Arg817Cys Missense 14/20 - 1
10-43615038-G-A c.2452G>A p.Glu818Lys Missense 14/20 - 1
10-43615045-G-T c.2459G>T p.Arg820Leu Missense 14/20 - 1
10-43615045-G-A c.2459G>A p.Arg820His Missense 14/20 - 2
10-43615047-A-C c.2461A>C p.Lys821Gln Missense 14/20 - 1
10-43615047-A-G c.2461A>G p.Lys821Glu Missense 14/20 - 2
10-43615063-A-C c.2477A>C p.Tyr826Ser Missense 14/20 - 1
10-43615063-A-T c.2477A>T p.Tyr826Phe Missense 14/20 - 1
10-43615070-C-T c.2484C>T p.Gly828Gly Synonymous 14/20 - 1
10-43615078-G-T c.2492G>T p.Gly831Val Missense 14/20 - 1
10-43615083-C-T c.2497C>T p.Arg833Cys Missense 14/20 - 5
10-43615094-C-T c.2508C>T p.Ser836Ser Synonymous 14/20 - 39
10-43615096-C-A c.2510C>A p.Ser837Tyr Missense 14/20 - 1
10-43615096-C-T c.2510C>T p.Ser837Phe Missense 14/20 - 1
10-43615104-CA-GC c.2518_2519delinsGC p.His840Ala Missense 14/20 - 1
10-43615108-C-T c.2522C>T p.Pro841Leu Missense 14/20 - 1
10-43615109-G-A c.2523G>A p.Pro841Pro Synonymous 14/20 - 1
10-43615109-G-T c.2523G>T p.Pro841Pro Synonymous 14/20 - 1
10-43615109-G-C c.2523G>C p.Pro841Pro Synonymous 14/20 - 1
10-43615111-A-T c.2525A>T p.Asp842Val Missense 14/20 - 8
10-43615113-G-A c.2527G>A p.Glu843Lys Missense 14/20 - 1
10-43615116-C-T c.2530C>T p.Arg844Trp Missense 14/20 - 2
10-43615117-G-A c.2531G>A p.Arg844Gln Missense 14/20 - 6
10-43615117-G-T c.2531G>T p.Arg844Leu Missense 14/20 - 6
10-43615128-A-G c.2542A>G p.Met848Val Missense 14/20 - 1
10-43615129-T-C c.2543T>C p.Met848Thr Missense 14/20 - 1
10-43615136-C-G c.2550C>G p.Asp850Glu Missense 14/20 - 1
10-43615140-A-G c.2554A>G p.Ile852Val Missense 14/20 - 1
10-43615142-C-G c.2556C>G p.Ile852Met Missense 14/20 - 8
10-43615164-C-T c.2578C>T p.Gln860* Nonsense 14/20 - 4
10-43615176-T-C c.2590T>C p.Tyr864His Missense 14/20 - 1
10-43615329-A-G c.2607+136A>G - IntronicSNV - 14/19 2
10-43615382-C-T c.2608-147C>T - IntronicSNV - 14/19 2
10-43615405-G-A c.2608-124G>A - IntronicSNV - 14/19 1
10-43615505-G-A c.2608-24G>A - IntronicSNV - 14/19 8
10-43615532-G-A c.2611G>A p.Val871Ile Missense 15/20 - 3
10-43615548-C-T c.2627C>T p.Ala876Val Missense 15/20 - 1
10-43615562-C-G c.2641C>G p.Leu881Val Missense 15/20 - 1
10-43615567-A-C c.2646A>C p.Val882Val Synonymous 15/20 - 1
10-43615567-A-T c.2646A>T p.Val882Val Synonymous 15/20 - 1
10-43615567-A-G c.2646A>G p.Val882Val Synonymous 15/20 - 1
10-43615567-AGC-TTT c.2646_2648delinsTTT p.Ala883Phe Missense 15/20 - 1
10-43615568-GC-TT c.2647_2648delinsTT p.Ala883Phe Missense 15/20 - 69
10-43615568-G-T c.2647G>T p.Ala883Ser Missense 15/20 - 1
10-43615568-G-A c.2647G>A p.Ala883Thr Missense 15/20 - 4
10-43615569-C-T c.2648C>T p.Ala883Val Missense 15/20 - 2
10-43615572-A-T c.2651A>T p.Glu884Val Missense 15/20 - 5
10-43615573-G-C c.2652G>C p.Glu884Asp Missense 15/20 - 1
10-43615577-C-T c.2656C>T p.Arg886Trp Missense 15/20 - 1
10-43615578-G-A c.2657G>A p.Arg886Gln Missense 15/20 - 1
10-43615581-A-G c.2660A>G p.Lys887Arg Missense 15/20 - 1
10-43615592-T-G c.2671T>G p.Ser891Ala Missense 15/20 - 40
10-43615593-C-T c.2672C>T p.Ser891Leu Missense 15/20 - 1
10-43615594-G-A c.2673G>A p.Ser891Ser Synonymous 15/20 - 1
10-43615600-C-T c.2679C>T p.Phe893Phe Synonymous 15/20 - 1
10-43615601-G-A c.2680G>A p.Gly894Ser Missense 15/20 - 2
10-43615601-GG-AC c.2680_2681delinsAC p.Gly894Thr Missense 15/20 - 1
10-43615612-A-C c.2691A>C p.Arg897Arg Synonymous 15/20 - 1
10-43615612-A-G c.2691A>G p.Arg897Arg Synonymous 15/20 - 1
10-43615610-C-A c.2689C>A p.Arg897Arg Synonymous 15/20 - 1
10-43615612-A-T c.2691A>T p.Arg897Arg Synonymous 15/20 - 1
10-43615611-G-A c.2690G>A p.Arg897Gln Missense 15/20 - 2
10-43615613-G-T c.2692G>T p.Asp898Tyr Missense 15/20 - 1
10-43615615-ATGTTTATGAAGA-A c.2694_2705del p.Asp898_Glu901del InFrameDeletion 15/20 - 5
10-43615620-A-T c.2699A>T p.Tyr900Phe Missense 15/20 - 3
10-43615621-T-G c.2700T>G p.Tyr900* Nonsense 15/20 - 2
10-43615621-T-A c.2700T>A p.Tyr900* Nonsense 15/20 - 2
10-43615622-G-A c.2701G>A p.Glu901Lys Missense 15/20 - 1
10-43615624-AAGA-A c.2703_2705del p.Glu902del InFrameDeletion 15/20 - 3
10-43615627-AGGA-A c.2706_2708del p.Glu902del InFrameDeletion 15/20 - 1
10-43615631-T-C c.2710T>C p.Ser904Pro Missense 15/20 - 1
10-43615632-C-A c.2711C>A p.Ser904Tyr Missense 15/20 - 1
10-43615632-C-T c.2711C>T p.Ser904Phe Missense 15/20 - 5
10-43615632-CCT-TGG c.2711_2713delinsTGG p.Ser904_Tyr905delinsLeuAsp MultiAAMissense 15/20 - 1
10-43615632-CC-TG c.2711_2712delinsTG p.Ser904Leu Missense 15/20 - 1
10-43615632-C-G c.2711C>G p.Ser904Cys Missense 15/20 - 13
10-43615633-CT-GG c.2712_2713delinsGG p.Tyr905Asp Missense 15/20 - 1
10-43615633-C-T c.2712C>T p.Ser904Ser Synonymous 15/20 - 36
10-43615633-C-A c.2712C>A p.Ser904Ser Synonymous 15/20 - 38
10-43615633-C-G c.2712C>G p.Ser904Ser Synonymous 15/20 - 40
10-43615635-A-T c.2714A>T p.Tyr905Phe Missense 15/20 - 7
10-43615640-A-G c.2719A>G p.Lys907Glu Missense 15/20 - 2
10-43615646-AG-GA c.2725_2726delinsGA p.Ser909Asp Missense 15/20 - 1
10-43615646-AG-GC c.2725_2726delinsGC p.Ser909Ala Missense 15/20 - 2
10-43615880-T-C c.2730+229T>C - IntronicSNV - 15/19 2
10-43615908-C-T c.2730+257C>T - IntronicSNV - 15/19 2
10-43615973-C-T c.2730+322C>T - IntronicSNV - 15/19 2
10-43616082-G-A c.2730+431G>A - IntronicSNV - 15/19 1
10-43616181-A-G c.2730+530A>G - IntronicSNV - 15/19 2
10-43616325-A-G c.2730+674A>G - IntronicSNV - 15/19 2
10-43616751-C-A c.2731-643C>A - IntronicSNV - 15/19 1
10-43617018-A-G c.2731-376A>G - IntronicSNV - 15/19 1
10-43617104-A-G c.2731-290A>G - IntronicSNV - 15/19 1
10-43617162-G-A c.2731-232G>A - IntronicSNV - 15/19 1
10-43617167-C-G c.2731-227C>G - IntronicSNV - 15/19 1
10-43617397-CG-GC c.2734_2735delinsGC p.Arg912Ala Missense 16/20 - 1
10-43617397-C-T c.2734C>T p.Arg912Trp Missense 16/20 - 1
10-43617398-G-A c.2735G>A p.Arg912Gln Missense 16/20 - 3
10-43617398-G-C c.2735G>C p.Arg912Pro Missense 16/20 - 13
10-43617400-AT-GC c.2737_2738delinsGC p.Ile913Ala Missense 16/20 - 1
10-43617415-A-G c.2752A>G p.Met918Val Missense 16/20 - 3
10-43617415-A-T c.2752A>T p.Met918Leu Missense 16/20 - 1
10-43617415-ATG-TAT c.2752_2754delinsTAT p.Met918Tyr Missense 16/20 - 1
10-43617415-A-C c.2752A>C p.Met918Leu Missense 16/20 - 1
10-43617416-T-G c.2753T>G p.Met918Arg Missense 16/20 - 2
10-43617416-T-C c.2753T>C p.Met918Thr Missense 16/20 - 335
10-43617419-C-T c.2756C>T p.Ala919Val Missense 16/20 - 2
10-43617424-G-A c.2761G>A p.Glu921Lys Missense 16/20 - 4
10-43617424-G-T c.2761G>T p.Glu921* Nonsense 16/20 - 2
10-43617428-C-A c.2765C>A p.Ser922Tyr Missense 16/20 - 1
10-43617430-C-T c.2767C>T p.Leu923Phe Missense 16/20 - 1
10-43617435-T-TT c.2772dup p.Asp925* Nonsense 16/20 - 1
10-43617437-A-C c.2774A>C p.Asp925Ala Missense 16/20 - 1
10-43617518-A-T c.2801+54A>T - IntronicSNV - 16/19 2
10-43617707-G-C c.2801+243G>C - IntronicSNV - 16/19 1
10-43618395-C-A c.2802-724C>A - IntronicSNV - 16/19 1
10-43619117-A-G c.2802-2A>G - IntronicSNV - 16/19 2
10-43619136-T-A c.2819T>A p.Leu940Gln Missense 17/20 - 1
10-43619142-G-A c.2825G>A p.Trp942* Nonsense 17/20 - 1
10-43619143-G-A c.2826G>A p.Trp942* Nonsense 17/20 - 1
10-43619149-C-G c.2832C>G p.Ile944Met Missense 17/20 - 2
10-43619162-G-C c.2845G>C p.Gly949Arg Missense 17/20 - 1
10-43619162-G-A c.2845G>A p.Gly949Arg Missense 17/20 - 1
10-43619174-CCT-AAG c.2857_2859delinsAAG p.Pro953Lys Missense 17/20 - 1
10-43619175-C-T c.2858C>T p.Pro953Leu Missense 17/20 - 2
10-43619176-T-A c.2859T>A p.Pro953Pro Synonymous 17/20 - 1
10-43619179-G-T c.2862G>T p.Gly954Gly Synonymous 17/20 - 1
10-43619179-G-C c.2862G>C p.Gly954Gly Synonymous 17/20 - 1
10-43619179-G-A c.2862G>A p.Gly954Gly Synonymous 17/20 - 1
10-43619193-G-A c.2876G>A p.Arg959Gln Missense 17/20 - 1
10-43619200-C-A c.2883C>A p.Phe961Leu Missense 17/20 - 1
10-43619200-C-G c.2883C>G p.Phe961Leu Missense 17/20 - 1
10-43619198-T-C c.2881T>C p.Phe961Leu Missense 17/20 - 1
10-43619207-C-G c.2890C>G p.Leu964Val Missense 17/20 - 1
10-43619231-A-G c.2914A>G p.Arg972Gly Missense 17/20 - 2
10-43619235-C-T c.2918C>T p.Pro973Leu Missense 17/20 - 1
10-43619256-T-C c.2939T>C p.Met980Thr Missense 17/20 - 3
10-43620333-A-T c.2942A>T p.Tyr981Phe Missense 18/20 - 12
10-43620334-C-G c.2943C>G p.Tyr981* Nonsense 18/20 - 2
10-43620335-C-T c.2944C>T p.Arg982Cys Missense 18/20 - 14
10-43620366-C-T c.2975C>T p.Pro992Leu Missense 18/20 - 3
10-43620385-T-A c.2994T>A p.Phe998Leu Missense 18/20 - 1
10-43620385-T-G c.2994T>G p.Phe998Leu Missense 18/20 - 1
10-43620383-T-G c.2992T>G p.Phe998Val Missense 18/20 - 1
10-43620383-T-C c.2992T>C p.Phe998Leu Missense 18/20 - 1
10-43620389-G-A c.2998G>A p.Asp1000Asn Missense 18/20 - 1
10-43620417-T-C c.3026T>C p.Met1009Thr Missense 18/20 - 2
10-43620422-A-G c.3031A>G p.Lys1011Glu Missense 18/20 - 1
10-43620551-G-A c.3039+121G>A - IntronicSNV - 18/19 2
10-43621323-C-T c.3040-700C>T - IntronicSNV - 18/19 1
10-43621323-C-G c.3040-700C>G - IntronicSNV - 18/19 1
10-43622027-A-T c.3044A>T p.Tyr1015Phe Missense 19/20 - 16
10-43622028-C-A c.3045C>A p.Tyr1015* Nonsense 19/20 - 1
10-43622028-C-G c.3045C>G p.Tyr1015* Nonsense 19/20 - 1
10-43622030-T-C c.3047T>C p.Leu1016Ser Missense 19/20 - 1
10-43622032-G-A c.3049G>A p.Asp1017Asn Missense 19/20 - 1
10-43622039-C-T c.3056C>T p.Ala1019Val Missense 19/20 - 1
10-43622054-C-T c.3071C>T p.Ser1024Phe Missense 19/20 - 1
10-43622062-C-G c.3079C>G p.Leu1027Val Missense 19/20 - 1
10-43622069-A-T c.3086A>T p.Tyr1029Phe Missense 19/20 - 1
10-43622095-A-G c.3112A>G p.Thr1038Ala Missense 19/20 - 2
10-43622099-C-T c.3116C>T p.Pro1039Leu Missense 19/20 - 2
10-43622122-C-T c.3139C>T p.Pro1047Ser Missense 19/20 - 1
10-43622125-CC-C c.3142del p.Leu1048Serfs*61 Frameshift 19/20 - 1
10-43622125-C-G c.3142C>G p.Leu1048Val Missense 19/20 - 1
10-43622134-G-A c.3151G>A p.Ala1051Thr Missense 19/20 - 1
10-43622165-T-C c.3182T>C p.Leu1061Pro Missense 19/20 - 1
10-43622167-TA-CC c.3184_3185delinsCC p.Tyr1062Pro Missense 19/20 - 1
10-43622168-A-T c.3185A>T p.Tyr1062Phe Missense 19/20 - 35
10-43622168-A-G c.3185A>G p.Tyr1062Cys Missense 19/20 - 4
10-43622217-T-C c.3187+47T>C - IntronicSNV - 19/19 4
10-43622933-T-A c.3188-627T>A - IntronicSNV - 19/19 3
10-43622933-T-C c.3188-627T>C - IntronicSNV - 19/19 3
10-43623563-T-C c.3191T>C p.Met1064Thr Missense 20/20 - 4
10-43623563-T-G c.3191T>G p.Met1064Arg Missense 20/20 - 1
10-43623565-TC-AT c.3193_3194delinsAT p.Ser1065Ile Missense 20/20 - 1
10-43623580-C-T c.3208C>T p.Pro1070Ser Missense 20/20 - 1
10-43623603-C-G c.3231C>G p.Leu1077Leu Synonymous 20/20 - 1
10-43623603-C-T c.3231C>T p.Leu1077Leu Synonymous 20/20 - 1
10-43623603-C-A c.3231C>A p.Leu1077Leu Synonymous 20/20 - 1
10-43623605-C-T c.3233C>T p.Thr1078Met Missense 20/20 - 1
10-43623625-A-G c.3253A>G p.Thr1085Ala Missense 20/20 - 1
10-43623629-G-C c.3257G>C p.Gly1086Ala Missense 20/20 - 1
10-43623637-A-C c.3265A>C p.Arg1089Arg Synonymous 20/20 - 1
10-43623639-A-G c.3267A>G p.Arg1089Arg Synonymous 20/20 - 1
10-43623642-T-A c.3270T>A p.Tyr1090* Nonsense 20/20 - 2
10-43623642-T-G c.3270T>G p.Tyr1090* Nonsense 20/20 - 2
10-43623650-A-G c.3278A>G p.Asp1093Gly Missense 20/20 - 1
10-43623659-A-T c.3287A>T p.Tyr1096Phe Missense 20/20 - 2
10-43623686-C-T c.3314C>T p.Ala1105Val Missense 20/20 - 1
10-43623699-G-A c.3327G>A p.Met1109Ile Missense 20/20 - 1
10-43623699-G-T c.3327G>T p.Met1109Ile Missense 20/20 - 1
10-43623699-G-C c.3327G>C p.Met1109Ile Missense 20/20 - 1
10-43623812-C-T c.*95C>T - 3-UTRSNV 20/20 - 4
10-43624105-G-A c.*388G>A - 3-UTRSNV 20/20 - 1
10-43624317-A-T c.*600A>T - 3-UTRSNV 20/20 - 1
10-43624317-A-G c.*600A>G - 3-UTRSNV 20/20 - 1
10-43624763-G-C c.*1046G>C - 3-UTRSNV 20/20 - 1
10-43624763-G-A c.*1046G>A - 3-UTRSNV 20/20 - 1
10-43624833-T-C c.*1116T>C - 3-UTRSNV 20/20 - 2
10-43625223-G-A c.*1506G>A - 3-UTRSNV 20/20 - 1
10-43625308-G-A c.*1591G>A - 3-UTRSNV 20/20 - 2
10-43625686-T-C c.*1969T>C - 3-UTRSNV 20/20 - 5