LDLR low density lipoprotein receptor

Canonical transcript: NM_000527

875 unique variant annotations were identified in 509 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-11200176-C-T c.-49C>T - 5-UTRSNV 1/18 - 1
19-11200189-T-G c.-36T>G - 5-UTRSNV 1/18 - 2
19-11200202-A-C c.-23A>C - 5-UTRSNV 1/18 - 1
19-11200212-A-G c.-13A>G - 5-UTRSNV 1/18 - 1
19-11200225-A-T c.1A>T p.Met1? Missense 1/18 - 1
19-11200228-G-C c.4G>C p.Gly2Arg Missense 1/18 - 1
19-11200235-G-A c.11G>A p.Trp4* Nonsense 1/18 - 1
19-11200252-T-A c.28T>A p.Trp10Arg Missense 1/18 - 1
19-11200262-C-G c.38C>G p.Ala13Gly Missense 1/18 - 1
19-11200279-GCG-TGT c.55_57delinsTGT p.Ala19Cys Missense 1/18 - 1
19-11200282-G-A c.58G>A p.Gly20Arg Missense 1/18 - 6
19-11200288-GCA-TTT c.64_66delinsTTT p.Ala22Phe Missense 1/18 - 1
19-11200412-C-T c.67+121C>T - IntronicSNV - 1/17 2
19-11200412-C-G c.67+121C>G - IntronicSNV - 1/17 2
19-11200806-C-T c.67+515C>T - IntronicSNV - 1/17 1
19-11201124-T-C c.67+833T>C - IntronicSNV - 1/17 4
19-11201129-C-CG c.67+838_67+839insG - IntronicInsertion - 1/17 1
19-11201366-G-A c.67+1075G>A - IntronicSNV - 1/17 1
19-11202306-G-T c.67+2015G>T - IntronicSNV - 1/17 138
19-11202460-T-A c.67+2169T>A - IntronicSNV - 1/17 2
19-11205975-G-A c.68-4924G>A - IntronicSNV - 1/17 1
19-11205975-G-C c.68-4924G>C - IntronicSNV - 1/17 1
19-11206040-C-T c.68-4859C>T - IntronicSNV - 1/17 4
19-11206530-T-A c.68-4369T>A - IntronicSNV - 1/17 1
19-11206530-T-C c.68-4369T>C - IntronicSNV - 1/17 1
19-11206575-G-A c.68-4324G>A - IntronicSNV - 1/17 2
19-11206861-G-A c.68-4038G>A - IntronicSNV - 1/17 1
19-11207982-T-C c.68-2917T>C - IntronicSNV - 1/17 1
19-11210157-C-T c.68-742C>T - IntronicSNV - 1/17 1
19-11210899-TG-AC c.68_69delinsAC p.Val23Asp Missense 2/18 - 1
19-11210899-T-A c.68T>A p.Val23Glu Missense 2/18 - 1
19-11210904-GAC-AAG c.73_75delinsAAG p.Asp25Lys Missense 2/18 - 1
19-11210905-A-C c.74A>C p.Asp25Ala Missense 2/18 - 1
19-11210912-C-G c.81C>G p.Cys27Trp Missense 2/18 - 43
19-11210912-C-A c.81C>A p.Cys27* Nonsense 2/18 - 42
19-11210912-C-T c.81C>T p.Cys27Cys Synonymous 2/18 - 48
19-11210921-C-T c.90C>T p.Asn30Asn Synonymous 2/18 - 3
19-11210921-C-G c.90C>G p.Asn30Lys Missense 2/18 - 2
19-11210926-T-C c.95T>C p.Phe32Ser Missense 2/18 - 1
19-11210928-C-T c.97C>T p.Gln33* Nonsense 2/18 - 3
19-11210931-T-G c.100T>G p.Cys34Gly Missense 2/18 - 3
19-11210933-C-A c.102C>A p.Cys34* Nonsense 2/18 - 1
19-11210943-A-T c.112A>T p.Lys38* Nonsense 2/18 - 1
19-11210945-A-AAATT c.114_115insAATT p.Cys39Asnfs*14 Frameshift 2/18 - 1
19-11210947-GC-AA c.116_117delinsAA p.Cys39* Missense 2/18 - 1
19-11210952-CTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCA-C c.121_179del p.Ser41Glyfs*69 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/18 - 1
19-11210960-G-C c.129G>C p.Lys43Asn Missense 2/18 - 2
19-11210962-G-A c.131G>A p.Trp44* Nonsense 2/18 - 3
19-11210967-T-G c.136T>G p.Cys46Gly Missense 2/18 - 1
19-11210968-G-T c.137G>T p.Cys46Phe Missense 2/18 - 1
19-11210970-G-A c.139G>A p.Asp47Asn Missense 2/18 - 1
19-11210971-A-G c.140A>G p.Asp47Gly Missense 2/18 - 1
19-11210971-GATG-G c.140_142del p.Asp47del InFrameDeletion 2/18 - 1
19-11210976-A-G c.145A>G p.Ser49Gly Missense 2/18 - 2
19-11210979-G-T c.148G>T p.Ala50Ser Missense 2/18 - 3
19-11210996-C-G c.165C>G p.Gly55Gly Synonymous 2/18 - 1
19-11210996-C-T c.165C>T p.Gly55Gly Synonymous 2/18 - 1
19-11211009-C-T c.178C>T p.Gln60* Nonsense 2/18 - 1
19-11211016-C-T c.185C>T p.Thr62Met Missense 2/18 - 2
19-11211019-G-A c.188G>A p.Cys63Tyr Missense 2/18 - 2
19-11211025-A-T c.190+4A>T - IntronicSNV - 2/17 1
19-11211077-G-A c.190+56G>A - IntronicSNV - 2/17 1
19-11211079-C-T c.190+58C>T - IntronicSNV - 2/17 1
19-11212005-TTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGC-T c.190+984_190+1042del - Unclassified - 2/17 1
19-11213338-A-G c.191-2A>G - IntronicSNV - 2/17 1
19-11213340-T-C c.191T>C p.Leu64Ser Missense 3/18 - 1
19-11213340-GTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATT-G c.191_249del p.Leu64Serfs*46 Unclassified 3/18 - 1
19-11213344-T-TT c.195dup p.Val66Cysfs*64 Frameshift 3/18 - 1
19-11213352-G-A c.203G>A p.Cys68Tyr Missense 3/18 - 2
19-11213375-G-T c.226G>T p.Gly76Trp Missense 3/18 - 2
19-11213381-CGT-GAG c.232_234delinsGAG p.Arg78Glu Missense 3/18 - 1
19-11213381-C-T c.232C>T p.Arg78Cys Missense 3/18 - 1
19-11213382-G-A c.233G>A p.Arg78His Missense 3/18 - 2
19-11213387-AAC-CAA c.238_240delinsCAA p.Asn80Gln Missense 3/18 - 1
19-11213390-C-T c.241C>T p.Arg81Cys Missense 3/18 - 2
19-11213393-T-G c.244T>G p.Cys82Gly Missense 3/18 - 1
19-11213393-CT-C c.244del p.Cys82Alafs*124 Frameshift 3/18 - 1
19-11213398-TT-T c.249del p.Pro84Leufs*122 Frameshift 3/18 - 1
19-11213399-C-T c.250C>T p.Pro84Ser Missense 3/18 - 1
19-11213399-CC-GG c.250_251inv p.Pro84Gly Missense 3/18 - 1
19-11213404-G-T c.255G>T p.Gln85His Missense 3/18 - 1
19-11213408-T-C c.259T>C p.Trp87Arg Missense 3/18 - 1
19-11213408-T-G c.259T>G p.Trp87Gly Missense 3/18 - 6
19-11213409-G-A c.260G>A p.Trp87* Nonsense 3/18 - 2
19-11213409-GG-AA c.260_261delinsAA p.Trp87* Missense 3/18 - 1
19-11213410-G-A c.261G>A p.Trp87* Nonsense 3/18 - 2
19-11213413-G-C c.264G>C p.Arg88Ser Missense 3/18 - 1
19-11213413-G-T c.264G>T p.Arg88Ser Missense 3/18 - 1
19-11213414-T-G c.265T>G p.Cys89Gly Missense 3/18 - 1
19-11213414-T-C c.265T>C p.Cys89Arg Missense 3/18 - 2
19-11213415-G-A c.266G>A p.Cys89Tyr Missense 3/18 - 2
19-11213416-C-G c.267C>G p.Cys89Trp Missense 3/18 - 1
19-11213417-G-A c.268G>A p.Asp90Asn Missense 3/18 - 7
19-11213417-G-T c.268G>T p.Asp90Tyr Missense 3/18 - 1
19-11213419-T-A c.270T>A p.Asp90Glu Missense 3/18 - 2
19-11213420-G-C c.271G>C p.Gly91Arg Missense 3/18 - 1
19-11213421-GG-G c.272del p.Gly91Alafs*115 Frameshift 3/18 - 1
19-11213432-T-G c.283T>G p.Cys95Gly Missense 3/18 - 1
19-11213434-C-G c.285C>G p.Cys95Trp Missense 3/18 - 2
19-11213440-C-G c.291C>G p.Asn97Lys Missense 3/18 - 1
19-11213441-G-A c.292G>A p.Gly98Ser Missense 3/18 - 4
19-11213445-C-G c.296C>G p.Ser99* Nonsense 3/18 - 3
19-11213449-C-T c.300C>T p.Asp100Asp Synonymous 3/18 - 2
19-11213450-G-A c.301G>A p.Glu101Lys Missense 3/18 - 4
19-11213451-A-T c.302A>T p.Glu101Val Missense 3/18 - 1
19-11213453-C-T c.304C>T p.Gln102* Nonsense 3/18 - 2
19-11213459-T-C c.310T>C p.Cys104Arg Missense 3/18 - 1
19-11213460-G-A c.311G>A p.Cys104Tyr Missense 3/18 - 1
19-11213463-G-C c.313+1G>C - IntronicSNV - 3/17 1
19-11213463-G-A c.313+1G>A - IntronicSNV - 3/17 4
19-11213464-T-C c.313+2T>C - IntronicSNV - 3/17 1
19-11213464-T-TT c.313+2dup - IntronicInsertion - 3/17 1
19-11213467-G-T c.313+5G>T - IntronicSNV - 3/17 1
19-11213467-G-A c.313+5G>A - IntronicSNV - 3/17 3
19-11213468-T-C c.313+6T>C - IntronicSNV - 3/17 1
19-11215894-A-G c.314-2A>G - IntronicSNV - 3/17 1
19-11215898-CCCCAAGACGTGCTCCCAGGAC-C c.316_336del p.Pro106_Asp112del InFrameDeletion 4/18 - 1
19-11215902-AAGA-A c.320_322del p.Lys107del InFrameDeletion 4/18 - 1
19-11215905-C-T c.323C>T p.Thr108Met Missense 4/18 - 1
19-11215907-GTGCTCCCAGGACG-G c.325_337del p.Cys109Serfs*93 Frameshift 4/18 - 1
19-11215907-T-C c.325T>C p.Cys109Arg Missense 4/18 - 1
19-11215908-G-A c.326G>A p.Cys109Tyr Missense 4/18 - 2
19-11215918-C-CT c.336_337insT p.Glu113* Nonsense 4/18 - 1
19-11215919-G-GG c.337dup p.Glu113Glyfs*17 Frameshift 4/18 - 2
19-11215925-C-T c.343C>T p.Arg115Cys Missense 4/18 - 1
19-11215926-G-A c.344G>A p.Arg115His Missense 4/18 - 4
19-11215928-T-C c.346T>C p.Cys116Arg Missense 4/18 - 1
19-11215929-G-C c.347G>C p.Cys116Ser Missense 4/18 - 1
19-11215934-G-A c.352G>A p.Asp118Asn Missense 4/18 - 1
19-11215934-G-T c.352G>T p.Asp118Tyr Missense 4/18 - 2
19-11215939-GG-G c.357del p.Lys120Serfs*86 Frameshift 4/18 - 1
19-11215943-T-A c.361T>A p.Cys121Ser Missense 4/18 - 1
19-11215944-G-C c.362G>C p.Cys121Ser Missense 4/18 - 1
19-11215944-G-A c.362G>A p.Cys121Tyr Missense 4/18 - 1
19-11215946-CATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGC-C c.364_422del p.Ile122Leufs*38 InFrameDeletion 4/18 - 1
19-11215949-T-C c.367T>C p.Ser123Pro Missense 4/18 - 2
19-11215949-CTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTC-C c.367_425del p.Ser123Leufs*37 Frameshift 4/18 - 1
19-11215955-CA-GC c.373_374delinsGC p.Gln125Ala Missense 4/18 - 1
19-11215956-A-ACTGA c.374_375insCTGA p.Gln125Hisfs*2 Frameshift 4/18 - 1
19-11215962-T-A c.380T>A p.Val127Asp Missense 4/18 - 1
19-11215964-T-C c.382T>C p.Cys128Arg Missense 4/18 - 1
19-11215965-G-A c.383G>A p.Cys128Tyr Missense 4/18 - 2
19-11215965-G-T c.383G>T p.Cys128Phe Missense 4/18 - 1
19-11215967-G-T c.385G>T p.Asp129Tyr Missense 4/18 - 1
19-11215967-G-A c.385G>A p.Asp129Asn Missense 4/18 - 1
19-11215971-C-G c.389C>G p.Ser130* Nonsense 4/18 - 1
19-11215972-A-AT c.390_391insT p.Asp131* Nonsense 4/18 - 1
19-11215976-CGG-TAT c.394_396delinsTAT p.Arg132Tyr Missense 4/18 - 1
19-11215977-G-A c.395G>A p.Arg132Gln Missense 4/18 - 1
19-11215982-T-G c.400T>G p.Cys134Gly Missense 4/18 - 1
19-11215988-G-T c.406G>T p.Asp136Tyr Missense 4/18 - 1
19-11215989-A-T c.407A>T p.Asp136Val Missense 4/18 - 3
19-11215991-G-C c.409G>C p.Gly137Arg Missense 4/18 - 1
19-11215995-C-A c.413C>A p.Ser138* Nonsense 4/18 - 1
19-11215997-G-C c.415G>C p.Asp139His Missense 4/18 - 3
19-11215998-A-G c.416A>G p.Asp139Gly Missense 4/18 - 1
19-11215998-A-T c.416A>T p.Asp139Val Missense 4/18 - 1
19-11216000-G-T c.418G>T p.Glu140* Nonsense 4/18 - 2
19-11216000-G-A c.418G>A p.Glu140Lys Missense 4/18 - 3
19-11216006-CTCCTGCC-C c.424_430del p.Ser142Argfs*62 Frameshift 4/18 - 1
19-11216006-TC-GG c.424_425delinsGG p.Ser142Gly Missense 4/18 - 1
19-11216009-T-G c.427T>G p.Cys143Gly Missense 4/18 - 1
19-11216010-G-A c.428G>A p.Cys143Tyr Missense 4/18 - 3
19-11216011-C-A c.429C>A p.Cys143* Nonsense 4/18 - 1
19-11216014-G-GA c.432_433insA p.Val145Serfs*35 Frameshift 4/18 - 2
19-11216022-C-T c.440C>T p.Thr147Ile Missense 4/18 - 1
19-11216025-G-C c.443G>C p.Cys148Ser Missense 4/18 - 2
19-11216026-T-A c.444T>A p.Cys148* Nonsense 4/18 - 1
19-11216032-C-CC c.450dup p.Ala151Argfs*29 Frameshift 4/18 - 1
19-11216045-T-C c.463T>C p.Cys155Arg Missense 4/18 - 1
19-11216046-G-A c.464G>A p.Cys155Tyr Missense 4/18 - 2
19-11216047-C-A c.465C>A p.Cys155* Nonsense 4/18 - 1
19-11216067-C-T c.485C>T p.Pro162Leu Missense 4/18 - 1
19-11216083-C-G c.501C>G p.Cys167Trp Missense 4/18 - 1
19-11216083-C-A c.501C>A p.Cys167* Nonsense 4/18 - 1
19-11216084-G-A c.502G>A p.Asp168Asn Missense 4/18 - 1
19-11216084-G-C c.502G>C p.Asp168His Missense 4/18 - 1
19-11216085-A-G c.503A>G p.Asp168Gly Missense 4/18 - 1
19-11216089-C-T c.507C>T p.Asn169Asn Synonymous 4/18 - 1
19-11216090-G-A c.508G>A p.Asp170Asn Missense 4/18 - 1
19-11216096-G-A c.514G>A p.Asp172Asn Missense 4/18 - 2
19-11216096-G-C c.514G>C p.Asp172His Missense 4/18 - 1
19-11216098-C-A c.516C>A p.Asp172Glu Missense 4/18 - 2
19-11216099-T-C c.517T>C p.Cys173Arg Missense 4/18 - 2
19-11216101-C-G c.519C>G p.Cys173Trp Missense 4/18 - 1
19-11216103-A-C c.521A>C p.Glu174Ala Missense 4/18 - 1
19-11216106-A-G c.524A>G p.Asp175Gly Missense 4/18 - 1
19-11216111-T-C c.529T>C p.Ser177Pro Missense 4/18 - 1
19-11216112-C-T c.530C>T p.Ser177Leu Missense 4/18 - 7
19-11216117-G-T c.535G>T p.Glu179* Nonsense 4/18 - 1
19-11216121-G-A c.539G>A p.Trp180* Nonsense 4/18 - 1
19-11216132-TG-CT c.550_551delinsCT p.Cys184Leu Missense 4/18 - 1
19-11216132-T-G c.550T>G p.Cys184Gly Missense 4/18 - 1
19-11216133-G-A c.551G>A p.Cys184Tyr Missense 4/18 - 1
19-11216140-T-C c.558T>C p.Gly186Gly Synonymous 4/18 - 2
19-11216140-T-A c.558T>A p.Gly186Gly Synonymous 4/18 - 2
19-11216140-T-G c.558T>G p.Gly186Gly Synonymous 4/18 - 2
19-11216144-TA-GC c.562_563delinsGC p.Tyr188Ala Missense 4/18 - 1
19-11216153-C-T c.571C>T p.Gln191* Nonsense 4/18 - 1
19-11216163-G-T c.581G>T p.Ser194Ile Missense 4/18 - 1
19-11216171-T-G c.589T>G p.Cys197Gly Missense 4/18 - 1
19-11216171-T-C c.589T>C p.Cys197Arg Missense 4/18 - 1
19-11216172-G-A c.590G>A p.Cys197Tyr Missense 4/18 - 1
19-11216172-G-T c.590G>T p.Cys197Phe Missense 4/18 - 1
19-11216180-T-A c.598T>A p.Phe200Ile Missense 4/18 - 1
19-11216183-G-A c.601G>A p.Glu201Lys Missense 4/18 - 1
19-11216191-AC-A c.609del p.Cys204Alafs*2 Frameshift 4/18 - 1
19-11216193-G-A c.611G>A p.Cys204Tyr Missense 4/18 - 2
19-11216203-C-T c.621C>T p.Gly207Gly Synonymous 4/18 - 3
19-11216203-C-G c.621C>G p.Gly207Gly Synonymous 4/18 - 2
19-11216203-C-A c.621C>A p.Gly207Gly Synonymous 4/18 - 2
19-11216204-G-A c.622G>A p.Glu208Lys Missense 4/18 - 2
19-11216211-T-A c.629T>A p.Ile210Asn Missense 4/18 - 1
19-11216223-G-C c.641G>C p.Trp214Ser Missense 4/18 - 1
19-11216225-CGC-GAG c.643_645delinsGAG p.Arg215Glu Missense 4/18 - 1
19-11216226-G-A c.644G>A p.Arg215His Missense 4/18 - 3
19-11216229-G-T c.647G>T p.Cys216Phe Missense 4/18 - 1
19-11216230-GTGATGGTGG-G c.648_656del p.Asp217_Gly219del InFrameDeletion 4/18 - 1
19-11216236-GTGG-G c.654_656del p.Gly219del InFrameDeletion 4/18 - 3
19-11216237-G-A c.655G>A p.Gly219Ser Missense 4/18 - 1
19-11216237-TGG-T c.655_656del p.Gly219Profs*8 Frameshift 4/18 - 1
19-11216243-G-A c.661G>A p.Asp221Asn Missense 4/18 - 3
19-11216243-CG-C c.661del p.Asp221Thrfs*44 Frameshift 4/18 - 1
19-11216244-A-G c.662A>G p.Asp221Gly Missense 4/18 - 4
19-11216247-G-A c.665G>A p.Cys222Tyr Missense 4/18 - 1
19-11216247-G-T c.665G>T p.Cys222Phe Missense 4/18 - 2
19-11216248-C-A c.666C>A p.Cys222* Nonsense 4/18 - 2
19-11216248-GCAAGGACAAATCTGACGAGGAA-G c.666_687del p.Cys222* Frameshift 4/18 - 1
19-11216249-CAAGGACAAATCTGACGAGGAAAACTGC-C c.667_693del p.Lys223_Cys231del SpliceDonorDeletion 4/18 - 1
19-11216251-G-C c.669G>C p.Lys223Asn Missense 4/18 - 1
19-11216252-G-A c.670G>A p.Asp224Asn Missense 4/18 - 1
19-11216257-AA-A c.675del p.Lys225Asnfs*40 Frameshift 4/18 - 1
19-11216258-T-C c.676T>C p.Ser226Pro Missense 4/18 - 1
19-11216260-T-TT c.678dup p.Asp227* Nonsense 4/18 - 1
19-11216262-GAC-G c.680_681del p.Asp227Glyfs*12 Frameshift 4/18 - 2
19-11216262-A-T c.680A>T p.Asp227Val Missense 4/18 - 1
19-11216262-ACG-CGGTATGGACTGCA c.680_682delinsCGGTATGGACTGCA p.Asp227Alafs*42 Frameshift 4/18 - 1
19-11216263-C-T c.681C>T p.Asp227Asp Synonymous 4/18 - 1
19-11216263-C-G c.681C>G p.Asp227Glu Missense 4/18 - 7
19-11216263-C-A c.681C>A p.Asp227Glu Missense 4/18 - 5
19-11216263-C-CTGAG c.681_682insTGAG p.Glu228* Nonsense 4/18 - 1
19-11216263-ACGA-A c.681_683del p.Asp227del InFrameDeletion 4/18 - 1
19-11216264-G-C c.682G>C p.Glu228Gln Missense 4/18 - 4
19-11216264-CG-C c.682del p.Glu228Argfs*37 Frameshift 4/18 - 1
19-11216264-G-A c.682G>A p.Glu228Lys Missense 4/18 - 12
19-11216264-G-T c.682G>T p.Glu228* Nonsense 4/18 - 8
19-11216268-A-T c.686A>T p.Glu229Val Missense 4/18 - 1
19-11216273-T-C c.691T>C p.Cys231Arg Missense 4/18 - 1
19-11216273-CTGC-C c.691_693del p.Cys231del InFrameDeletion 4/18 - 1
19-11216275-GCGGTATGGGCGGGGCCAGGGTG-G c.693_694+20del - SpliceDonorDeletion 4/18 4/17 1
19-11216275-C-G c.693C>G p.Cys231Trp Missense 4/18 - 2
19-11216277-G-T c.694+1G>T - IntronicSNV - 4/17 1
19-11216278-T-C c.694+2T>C - IntronicSNV - 4/17 2
19-11216561-A-C c.694+285A>C - IntronicSNV - 4/17 6
19-11216561-A-T c.694+285A>T - IntronicSNV - 4/17 6
19-11217250-CC-TG c.704_705delinsTG p.Thr235Met Missense 5/18 - 1
19-11217251-C-T c.705C>T p.Thr235Thr Synonymous 5/18 - 1
19-11217251-C-G c.705C>G p.Thr235Thr Synonymous 5/18 - 1
19-11217251-C-A c.705C>A p.Thr235Thr Synonymous 5/18 - 1
19-11217256-G-A c.710G>A p.Arg237His Missense 5/18 - 1
19-11217264-G-T c.718G>T p.Glu240* Nonsense 5/18 - 1
19-11217264-G-A c.718G>A p.Glu240Lys Missense 5/18 - 3
19-11217268-T-C c.722T>C p.Phe241Ser Missense 5/18 - 1
19-11217271-A-G c.725A>G p.Gln242Arg Missense 5/18 - 2
19-11217273-TG-AC c.727_728delinsAC p.Cys243Thr Missense 5/18 - 1
19-11217273-T-C c.727T>C p.Cys243Arg Missense 5/18 - 1
19-11217274-G-A c.728G>A p.Cys243Tyr Missense 5/18 - 1
19-11217281-T-G c.735T>G p.Asp245Glu Missense 5/18 - 2
19-11217281-T-A c.735T>A p.Asp245Glu Missense 5/18 - 2
19-11217298-G-GG c.752dup p.Ser252Glnfs*5 Frameshift 5/18 - 1
19-11217303-C-T c.757C>T p.Arg253Trp Missense 5/18 - 2
19-11217306-C-T c.760C>T p.Gln254* Nonsense 5/18 - 1
19-11217307-A-C c.761A>C p.Gln254Pro Missense 5/18 - 2
19-11217309-T-A c.763T>A p.Cys255Ser Missense 5/18 - 1
19-11217310-G-A c.764G>A p.Cys255Tyr Missense 5/18 - 1
19-11217314-C-G c.768C>G p.Asp256Glu Missense 5/18 - 1
19-11217315-CG-TA c.769_770delinsTA p.Arg257* Nonsense 5/18 - 1
19-11217315-C-T c.769C>T p.Arg257Trp Missense 5/18 - 8
19-11217328-G-T c.782G>T p.Cys261Phe Missense 5/18 - 1
19-11217339-A-T c.793A>T p.Ser265Cys Missense 5/18 - 1
19-11217341-C-G c.795C>G p.Ser265Arg Missense 5/18 - 1
19-11217341-C-A c.795C>A p.Ser265Arg Missense 5/18 - 1
19-11217339-A-C c.793A>C p.Ser265Arg Missense 5/18 - 1
19-11217342-G-A c.796G>A p.Asp266Asn Missense 5/18 - 2
19-11217344-T-A c.798T>A p.Asp266Glu Missense 5/18 - 6
19-11217352-G-A c.806G>A p.Gly269Asp Missense 5/18 - 5
19-11217355-G-C c.809G>C p.Cys270Ser Missense 5/18 - 1
19-11217354-T-A c.808T>A p.Cys270Ser Missense 5/18 - 1
19-11217354-T-C c.808T>C p.Cys270Arg Missense 5/18 - 1
19-11217355-G-A c.809G>A p.Cys270Tyr Missense 5/18 - 1
19-11217357-G-A c.811G>A p.Val271Ile Missense 5/18 - 1
19-11217361-A-C c.815A>C p.Asn272Thr Missense 5/18 - 1
19-11218076-T-C c.826T>C p.Cys276Arg Missense 6/18 - 1
19-11218078-C-A c.828C>A p.Cys276* Nonsense 6/18 - 1
19-11218079-G-A c.829G>A p.Glu277Lys Missense 6/18 - 5
19-11218079-G-T c.829G>T p.Glu277* Nonsense 6/18 - 1
19-11218094-T-C c.844T>C p.Phe282Leu Missense 6/18 - 1
19-11218096-C-G c.846C>G p.Phe282Leu Missense 6/18 - 1
19-11218096-C-A c.846C>A p.Phe282Leu Missense 6/18 - 1
19-11218100-T-C c.850T>C p.Cys284Arg Missense 6/18 - 1
19-11218100-T-A c.850T>A p.Cys284Ser Missense 6/18 - 1
19-11218104-A-G c.854A>G p.His285Arg Missense 6/18 - 1
19-11218109-G-A c.859G>A p.Gly287Ser Missense 6/18 - 1
19-11218110-G-A c.860G>A p.Gly287Asp Missense 6/18 - 1
19-11218112-G-A c.862G>A p.Glu288Lys Missense 6/18 - 1
19-11218115-AT-A c.865del p.Cys289Alafs*81 Frameshift 6/18 - 1
19-11218119-T-G c.869T>G p.Ile290Ser Missense 6/18 - 1
19-11218125-T-TT c.875dup p.Asp293Glyfs*8 Frameshift 6/18 - 1
19-11218137-G-A c.887G>A p.Cys296Tyr Missense 6/18 - 1
19-11218138-C-A c.888C>A p.Cys296* Nonsense 6/18 - 1
19-11218139-AA-GC c.889_890delinsGC p.Asn297Ala Missense 6/18 - 1
19-11218140-A-C c.890A>C p.Asn297Thr Missense 6/18 - 2
19-11218140-AA-A c.890del p.Asn297Thrfs*73 Frameshift 6/18 - 1
19-11218140-AACAT-A c.890_893del p.Asn297Argfs*72 Frameshift 6/18 - 1
19-11218142-AT-CA c.892_893delinsCA p.Met298Gln Missense 6/18 - 1
19-11218142-CA-C c.892del p.Met298Trpfs*72 Frameshift 6/18 - 1
19-11218145-G-A c.895G>A p.Ala299Thr Missense 6/18 - 2
19-11218148-A-G c.898A>G p.Arg300Gly Missense 6/18 - 2
19-11218148-A-T c.898A>T p.Arg300* Nonsense 6/18 - 2
19-11218151-G-T c.901G>T p.Asp301Tyr Missense 6/18 - 1
19-11218152-A-G c.902A>G p.Asp301Gly Missense 6/18 - 2
19-11218155-G-T c.905G>T p.Cys302Phe Missense 6/18 - 1
19-11218157-C-T c.907C>T p.Arg303Trp Missense 6/18 - 1
19-11218160-G-GG c.910dup p.Asp304Glyfs*5 Frameshift 6/18 - 1
19-11218160-G-T c.910G>T p.Asp304Tyr Missense 6/18 - 1
19-11218160-G-A c.910G>A p.Asp304Asn Missense 6/18 - 2
19-11218164-G-C c.914G>C p.Trp305Ser Missense 6/18 - 1
19-11218167-C-T c.917C>T p.Ser306Leu Missense 6/18 - 4
19-11218178-A-T c.928A>T p.Ile310Phe Missense 6/18 - 1
19-11218189-C-A c.939C>A p.Cys313* Nonsense 6/18 - 1
19-11218190-CGGTGAGTCTCGGTGC-C c.940_940+14del - SpliceDonorDeletion 6/18 6/17 2
19-11218190-G-A c.940G>A p.Gly314Arg Missense 6/18 - 1
19-11218190-G-C c.940G>C p.Gly314Arg Missense 6/18 - 1
19-11218191-G-C c.940+1G>C - IntronicSNV - 6/17 1
19-11218191-G-A c.940+1G>A - IntronicSNV - 6/17 1
19-11218192-T-A c.940+2T>A - IntronicSNV - 6/17 1
19-11218204-GC-G c.940+14del - IntronicDeletion - 6/17 1
19-11218226-G-A c.940+36G>A - IntronicSNV - 6/17 1
19-11218965-G-T c.940+775G>T - IntronicSNV - 6/17 2
19-11218965-G-A c.940+775G>A - IntronicSNV - 6/17 2
19-11219281-T-C c.940+1091T>C - IntronicSNV - 6/17 1
19-11221316-G-A c.941-12G>A - IntronicSNV - 6/17 2
19-11221324-G-A c.941-4G>A - IntronicSNV - 6/17 2
19-11221326-A-G c.941-2A>G - IntronicSNV - 6/17 1
19-11221327-G-A c.941-1G>A - IntronicSNV - 6/17 1
19-11221328-G-C c.941G>C p.Gly314Ala Missense 7/18 - 1
19-11221331-C-T c.944C>T p.Thr315Ile Missense 7/18 - 1
19-11221334-A-G c.947A>G p.Asn316Ser Missense 7/18 - 1
19-11221338-AA-A c.951del p.Glu317Aspfs*53 Frameshift 7/18 - 1
19-11221339-T-C c.952T>C p.Cys318Arg Missense 7/18 - 1
19-11221340-G-A c.953G>A p.Cys318Tyr Missense 7/18 - 1
19-11221352-A-T c.965A>T p.Asn322Ile Missense 7/18 - 1
19-11221357-G-A c.970G>A p.Gly324Ser Missense 7/18 - 1
19-11221361-G-T c.974G>T p.Cys325Phe Missense 7/18 - 1
19-11221361-G-A c.974G>A p.Cys325Tyr Missense 7/18 - 3
19-11221364-C-G c.977C>G p.Ser326Cys Missense 7/18 - 2
19-11221366-C-T c.979C>T p.His327Tyr Missense 7/18 - 3
19-11221373-G-A c.986G>A p.Cys329Tyr Missense 7/18 - 7
19-11221373-G-T c.986G>T p.Cys329Phe Missense 7/18 - 2
19-11221375-AA-CT c.988_989delinsCT p.Asn330Leu Missense 7/18 - 1
19-11221380-C-A c.993C>A p.Asp331Glu Missense 7/18 - 1
19-11221380-C-G c.993C>G p.Asp331Glu Missense 7/18 - 1
19-11221390-G-A c.1003G>A p.Gly335Ser Missense 7/18 - 2
19-11221391-G-T c.1004G>T p.Gly335Val Missense 7/18 - 1
19-11221393-T-A c.1006T>A p.Tyr336Asn Missense 7/18 - 1
19-11221394-A-G c.1007A>G p.Tyr336Cys Missense 7/18 - 1
19-11221395-AC-A c.1008del p.Tyr336* Frameshift 7/18 - 1
19-11221399-T-A c.1012T>A p.Cys338Ser Missense 7/18 - 1
19-11221400-G-T c.1013G>T p.Cys338Phe Missense 7/18 - 1
19-11221400-G-A c.1013G>A p.Cys338Tyr Missense 7/18 - 1
19-11221402-CTG-GAC c.1015_1017delinsGAC p.Leu339Asp Missense 7/18 - 1
19-11221406-GC-TG c.1019_1020delinsTG p.Cys340Leu Missense 7/18 - 1
19-11221411-G-A c.1024G>A p.Asp342Asn Missense 7/18 - 1
19-11221414-G-T c.1027G>T p.Gly343Cys Missense 7/18 - 1
19-11221414-G-A c.1027G>A p.Gly343Ser Missense 7/18 - 4
19-11221421-A-C c.1034A>C p.Gln345Pro Missense 7/18 - 1
19-11221422-G-A c.1035G>A p.Gln345Gln Synonymous 7/18 - 1
19-11221424-TG-AT c.1037_1038delinsAT p.Leu346His Missense 7/18 - 1
19-11221429-GG-G c.1042del p.Ala348Profs*22 Frameshift 7/18 - 1
19-11221435-C-T c.1048C>T p.Arg350* Nonsense 7/18 - 4
19-11221441-T-A c.1054T>A p.Cys352Ser Missense 7/18 - 1
19-11221442-G-T c.1055G>T p.Cys352Phe Missense 7/18 - 2
19-11221442-G-A c.1055G>A p.Cys352Tyr Missense 7/18 - 2
19-11221443-C-G c.1056C>G p.Cys352Trp Missense 7/18 - 1
19-11221444-G-A c.1057G>A p.Glu353Lys Missense 7/18 - 1
19-11221454-T-C c.1060+7T>C - IntronicSNV - 7/17 3
19-11221457-G-A c.1060+10G>A - IntronicSNV - 7/17 2
19-11221457-G-C c.1060+10G>C - IntronicSNV - 7/17 4
19-11221471-C-A c.1060+24C>A - IntronicSNV - 7/17 1
19-11221473-T-G c.1060+26T>G - IntronicSNV - 7/17 1
19-11222182-T-C c.1061-8T>C - IntronicSNV - 7/17 3
19-11222188-A-G c.1061-2A>G - IntronicSNV - 7/17 1
19-11222190-A-C c.1061A>C p.Asp354Ala Missense 8/18 - 1
19-11222196-A-T c.1067A>T p.Asp356Val Missense 8/18 - 1
19-11222196-A-C c.1067A>C p.Asp356Ala Missense 8/18 - 1
19-11222201-T-C c.1072T>C p.Cys358Arg Missense 8/18 - 1
19-11222207-G-C c.1078G>C p.Asp360His Missense 8/18 - 1
19-11222214-A-C c.1085A>C p.Asp362Ala Missense 8/18 - 1
19-11222214-GA-G c.1085del p.Asp362Alafs*8 Frameshift 8/18 - 1
19-11222219-T-C c.1090T>C p.Cys364Arg Missense 8/18 - 2
19-11222231-T-C c.1102T>C p.Cys368Arg Missense 8/18 - 1
19-11222232-G-A c.1103G>A p.Cys368Tyr Missense 8/18 - 2
19-11222232-G-C c.1103G>C p.Cys368Ser Missense 8/18 - 1
19-11222238-A-G c.1109A>G p.Asn370Ser Missense 8/18 - 4
19-11222246-G-T c.1117G>T p.Gly373Cys Missense 8/18 - 1
19-11222247-GG-G c.1118del p.Gly373Valfs*40 Frameshift 8/18 - 1
19-11222247-G-A c.1118G>A p.Gly373Asp Missense 8/18 - 1
19-11222249-G-T c.1120G>T p.Gly374Cys Missense 8/18 - 1
19-11222249-G-A c.1120G>A p.Gly374Ser Missense 8/18 - 1
19-11222253-A-G c.1124A>G p.Tyr375Cys Missense 8/18 - 1
19-11222258-T-G c.1129T>G p.Cys377Gly Missense 8/18 - 2
19-11222259-G-T c.1130G>T p.Cys377Phe Missense 8/18 - 1
19-11222259-G-A c.1130G>A p.Cys377Tyr Missense 8/18 - 1
19-11222261-C-T c.1132C>T p.Gln378* Nonsense 8/18 - 1
19-11222262-A-C c.1133A>C p.Gln378Pro Missense 8/18 - 2
19-11222264-T-C c.1135T>C p.Cys379Arg Missense 8/18 - 4
19-11222265-G-A c.1136G>A p.Cys379Tyr Missense 8/18 - 1
19-11222268-A-C c.1139A>C p.Glu380Ala Missense 8/18 - 1
19-11222279-C-T c.1150C>T p.Gln384* Nonsense 8/18 - 1
19-11222282-C-G c.1153C>G p.Leu385Val Missense 8/18 - 1
19-11222287-C-G c.1158C>G p.Asp386Glu Missense 8/18 - 1
19-11222287-C-A c.1158C>A p.Asp386Glu Missense 8/18 - 1
19-11222296-G-A c.1167G>A p.Thr389Thr Synonymous 8/18 - 1
19-11222300-G-A c.1171G>A p.Ala391Thr Missense 8/18 - 16
19-11222309-GGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCA-G c.1181_1186+53del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/18 8/17 1
19-11222314-G-GC c.1185_1186insC p.Gly396Argfs*45 SpliceDonorInsertion 8/18 - 1
19-11222314-G-GT c.1185_1186insT p.Gly396Trpfs*45 SpliceDonorInsertion 8/18 - 1
19-11222314-G-GA c.1185_1186insA p.Gly396Argfs*45 SpliceDonorInsertion 8/18 - 1
19-11222315-G-A c.1186G>A p.Gly396Ser Missense 8/18 - 1
19-11222316-G-A c.1186+1G>A - IntronicSNV - 8/17 1
19-11222320-G-A c.1186+5G>A - IntronicSNV - 8/17 1
19-11222356-T-A c.1186+41T>A - IntronicSNV - 8/17 1
19-11223015-TGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCAC-T c.1186+700_1186+758del - Unclassified - 8/17 1
19-11223944-G-A c.1187-10G>A - IntronicSNV - 8/17 4
19-11223953-G-A c.1187-1G>A - IntronicSNV - 8/17 1
19-11223954-G-C c.1187G>C p.Gly396Ala Missense 9/18 - 2
19-11223961-C-T c.1194C>T p.Ile398Ile Synonymous 9/18 - 4
19-11223962-G-A c.1195G>A p.Ala399Thr Missense 9/18 - 1
19-11223968-C-G c.1201C>G p.Leu401Val Missense 9/18 - 1
19-11223968-C-T c.1201C>T p.Leu401Phe Missense 9/18 - 1
19-11223969-T-C c.1202T>C p.Leu401Pro Missense 9/18 - 1
19-11223971-T-C c.1204T>C p.Phe402Leu Missense 9/18 - 1
19-11223973-TC-T c.1206del p.Phe403Serfs*10 Frameshift 9/18 - 1
19-11223978-C-T c.1211C>T p.Thr404Ile Missense 9/18 - 2
19-11223981-A-C c.1214A>C p.Asn405Thr Missense 9/18 - 1
19-11223983-C-T c.1216C>T p.Arg406Trp Missense 9/18 - 3
19-11223983-C-A c.1216C>A p.Arg406Arg Synonymous 9/18 - 5
19-11223984-GG-AT c.1217_1218delinsAT p.Arg406His Missense 9/18 - 1
19-11223989-G-A c.1222G>A p.Glu408Lys Missense 9/18 - 4
19-11223989-G-C c.1222G>C p.Glu408Gln Missense 9/18 - 1
19-11223990-A-C c.1223A>C p.Glu408Ala Missense 9/18 - 1
19-11223990-A-T c.1223A>T p.Glu408Val Missense 9/18 - 1
19-11223995-AG-GA c.1228_1229delinsGA p.Arg410Glu Missense 9/18 - 1
19-11223995-AG-GC c.1228_1229delinsGC p.Arg410Ala Missense 9/18 - 2
19-11223996-G-A c.1229G>A p.Arg410Lys Missense 9/18 - 1
19-11223997-G-T c.1230G>T p.Arg410Ser Missense 9/18 - 4
19-11223997-G-C c.1230G>C p.Arg410Ser Missense 9/18 - 4
19-11224005-C-T c.1238C>T p.Thr413Met Missense 9/18 - 3
19-11224008-T-G c.1241T>G p.Leu414Arg Missense 9/18 - 4
19-11224013-C-T c.1246C>T p.Arg416Trp Missense 9/18 - 10
19-11224014-G-T c.1247G>T p.Arg416Leu Missense 9/18 - 1
19-11224019-G-A c.1252G>A p.Glu418Lys Missense 9/18 - 2
19-11224023-A-T c.1256A>T p.Tyr419Phe Missense 9/18 - 1
19-11224024-C-A c.1257C>A p.Tyr419* Nonsense 9/18 - 2
19-11224024-C-G c.1257C>G p.Tyr419* Nonsense 9/18 - 2
19-11224031-C-G c.1264C>G p.Leu422Val Missense 9/18 - 1
19-11224035-T-C c.1268T>C p.Ile423Thr Missense 9/18 - 2
19-11224041-A-G c.1274A>G p.Asn425Ser Missense 9/18 - 3
19-11224046-AG-GC c.1279_1280delinsGC p.Arg427Ala Missense 9/18 - 1
19-11224052-G-A c.1285G>A p.Val429Met Missense 9/18 - 8
19-11224052-G-C c.1285G>C p.Val429Leu Missense 9/18 - 5
19-11224055-G-C c.1288G>C p.Val430Leu Missense 9/18 - 1
19-11224058-G-A c.1291G>A p.Ala431Thr Missense 9/18 - 2
19-11224061-C-G c.1294C>G p.Leu432Val Missense 9/18 - 1
19-11224064-G-C c.1297G>C p.Asp433His Missense 9/18 - 2
19-11224064-GA-AG c.1297_1298delinsAG p.Asp433Ser Missense 9/18 - 1
19-11224068-C-G c.1301C>G p.Thr434Arg Missense 9/18 - 1
19-11224068-C-A c.1301C>A p.Thr434Lys Missense 9/18 - 1
19-11224071-A-G c.1304A>G p.Glu435Gly Missense 9/18 - 1
19-11224073-G-A c.1306G>A p.Val436Met Missense 9/18 - 1
19-11224089-T-C c.1322T>C p.Ile441Thr Missense 9/18 - 1
19-11224090-C-T c.1323C>T p.Ile441Ile Synonymous 9/18 - 1
19-11224090-C-G c.1323C>G p.Ile441Met Missense 9/18 - 1
19-11224096-GG-G c.1329del p.Trp443Cysfs*8 Frameshift 9/18 - 1
19-11224099-T-TT c.1332dup p.Asp445* Nonsense 9/18 - 2
19-11224102-C-A c.1335C>A p.Asp445Glu Missense 9/18 - 1
19-11224102-C-G c.1335C>G p.Asp445Glu Missense 9/18 - 1
19-11224103-C-G c.1336C>G p.Leu446Val Missense 9/18 - 2
19-11224107-CC-AA c.1340_1341delinsAA p.Ser447* Nonsense 9/18 - 14
19-11224107-C-G c.1340C>G p.Ser447Cys Missense 9/18 - 1
19-11224109-C-T c.1342C>T p.Gln448* Nonsense 9/18 - 2
19-11224110-CA-C c.1343del p.Gln448Argfs*3 Frameshift 9/18 - 1
19-11224119-T-C c.1352T>C p.Ile451Thr Missense 9/18 - 2
19-11224128-TGAGCGT-T c.1358+3_1358+8del - IntronicDeletion - 9/17 1
19-11224156-C-T c.1358+31C>T - IntronicSNV - 9/17 1
19-11224157-C-T c.1358+32C>T - IntronicSNV - 9/17 1
19-11224180-GGCGCTGATG-G c.1359-31_1359-23del - IntronicDeletion - 9/17 1
19-11224181-C-T c.1359-30C>T - IntronicSNV - 9/17 12
19-11224181-C-A c.1359-30C>A - IntronicSNV - 9/17 11
19-11224206-C-G c.1359-5C>G - IntronicSNV - 9/17 1
19-11224207-T-C c.1359-4T>C - IntronicSNV - 9/17 1
19-11224210-G-A c.1359-1G>A - IntronicSNV - 9/17 3
19-11224212-AC-TG c.1360_1361delinsTG p.Thr454Cys Missense 10/18 - 1
19-11224213-C-A c.1361C>A p.Thr454Asn Missense 10/18 - 3
19-11224215-CC-C c.1363del p.Gln455Serfs*52 Frameshift 10/18 - 1
19-11224219-T-C c.1367T>C p.Leu456Pro Missense 10/18 - 1
19-11224224-AG-GC c.1372_1373delinsGC p.Arg458Ala Missense 10/18 - 1
19-11224228-C-T c.1376C>T p.Ala459Val Missense 10/18 - 1
19-11224242-TC-AA c.1390_1391delinsAA p.Ser464Asn Missense 10/18 - 1
19-11224263-A-G c.1411A>G p.Arg471Gly Missense 10/18 - 2
19-11224265-A-G c.1413A>G p.Arg471Arg Synonymous 10/18 - 20
19-11224263-A-C c.1411A>C p.Arg471Arg Synonymous 10/18 - 2
19-11224266-G-T c.1414G>T p.Asp472Tyr Missense 10/18 - 2
19-11224276-C-T c.1424C>T p.Ala475Val Missense 10/18 - 1
19-11224279-C-G c.1427C>G p.Pro476Arg Missense 10/18 - 1
19-11224284-G-A c.1432G>A p.Gly478Arg Missense 10/18 - 4
19-11224285-G-A c.1433G>A p.Gly478Glu Missense 10/18 - 1
19-11224288-T-A c.1436T>A p.Leu479Gln Missense 10/18 - 1
19-11224288-T-C c.1436T>C p.Leu479Pro Missense 10/18 - 2
19-11224290-G-A c.1438G>A p.Ala480Thr Missense 10/18 - 1
19-11224291-C-T c.1439C>T p.Ala480Val Missense 10/18 - 2
19-11224296-G-C c.1444G>C p.Asp482His Missense 10/18 - 2
19-11224296-G-A c.1444G>A p.Asp482Asn Missense 10/18 - 3
19-11224300-G-A c.1448G>A p.Trp483* Nonsense 10/18 - 8
19-11224301-G-C c.1449G>C p.Trp483Cys Missense 10/18 - 1
19-11224301-G-T c.1449G>T p.Trp483Cys Missense 10/18 - 1
19-11224312-A-G c.1460A>G p.Asn487Ser Missense 10/18 - 1
19-11224320-T-C c.1468T>C p.Trp490Arg Missense 10/18 - 2
19-11224326-G-A c.1474G>A p.Asp492Asn Missense 10/18 - 3
19-11224330-TCT-T c.1478_1479del p.Ser493Cysfs*42 Frameshift 10/18 - 2
19-11224339-G-T c.1487G>T p.Gly496Val Missense 10/18 - 1
19-11224347-T-C c.1495T>C p.Ser499Pro Missense 10/18 - 1
19-11224348-TCT-T c.1496_1497del p.Ser499Cysfs*36 Frameshift 10/18 - 1
19-11224355-G-A c.1503G>A p.Ala501Ala Synonymous 10/18 - 1
19-11224366-G-A c.1514G>A p.Gly505Asp Missense 10/18 - 1
19-11224368-G-A c.1516G>A p.Val506Met Missense 10/18 - 1
19-11224368-G-GG c.1516dup p.Val506Glyfs*30 Frameshift 10/18 - 1
19-11224371-A-G c.1519A>G p.Lys507Glu Missense 10/18 - 1
19-11224377-A-G c.1525A>G p.Lys509Glu Missense 10/18 - 2
19-11224396-A-G c.1544A>G p.Asn515Ser Missense 10/18 - 1
19-11224397-C-T c.1545C>T p.Asn515Asn Synonymous 10/18 - 1
19-11224398-G-A c.1546G>A p.Gly516Ser Missense 10/18 - 2
19-11224399-G-T c.1547G>T p.Gly516Val Missense 10/18 - 1
19-11224401-CTCCAAGC-C c.1549_1555del p.Ser517Glnfs*29 Frameshift 10/18 - 1
19-11224413-G-C c.1561G>C p.Ala521Pro Missense 10/18 - 4
19-11224419-G-T c.1567G>T p.Val523Leu Missense 10/18 - 1
19-11224419-G-A c.1567G>A p.Val523Met Missense 10/18 - 7
19-11224428-C-T c.1576C>T p.Pro526Ser Missense 10/18 - 1
19-11224429-C-A c.1577C>A p.Pro526His Missense 10/18 - 1
19-11224429-C-G c.1577C>G p.Pro526Arg Missense 10/18 - 1
19-11224438-G-A c.1586G>A p.Gly529Asp Missense 10/18 - 1
19-11224443-G-A c.1586+5G>A - IntronicSNV - 10/17 1
19-11224491-A-G c.1586+53A>G - IntronicSNV - 10/17 1
19-11224931-C-T c.1586+493C>T - IntronicSNV - 10/17 2
19-11226768-A-T c.1587-2A>T - IntronicSNV - 10/17 1
19-11226769-G-A c.1587-1G>A - IntronicSNV - 10/17 1
19-11226775-T-A c.1592T>A p.Met531Lys Missense 11/18 - 2
19-11226778-A-G c.1595A>G p.Tyr532Cys Missense 11/18 - 1
19-11226780-T-C c.1597T>C p.Trp533Arg Missense 11/18 - 3
19-11226781-G-A c.1598G>A p.Trp533* Nonsense 11/18 - 2
19-11226782-G-A c.1599G>A p.Trp533* Nonsense 11/18 - 2
19-11226785-T-A c.1602T>A p.Thr534Thr Synonymous 11/18 - 1
19-11226785-T-G c.1602T>G p.Thr534Thr Synonymous 11/18 - 1
19-11226785-T-C c.1602T>C p.Thr534Thr Synonymous 11/18 - 1
19-11226786-G-A c.1603G>A p.Asp535Asn Missense 11/18 - 1
19-11226789-T-G c.1606T>G p.Trp536Gly Missense 11/18 - 1
19-11226793-GG-G c.1610del p.Gly537Glufs*11 Frameshift 11/18 - 1
19-11226800-C-T c.1617C>T p.Pro539Pro Synonymous 11/18 - 6
19-11226801-G-A c.1618G>A p.Ala540Thr Missense 11/18 - 2
19-11226812-AGAAAGGGGGCCTGAATGGTGTGGA-A c.1629_1652del p.Lys543_Asp551delinsAsn MultiAAMissense 11/18 - 1
19-11226813-A-C c.1630A>C p.Lys544Gln Missense 11/18 - 1
19-11226815-AA-A c.1632del p.Gly546Alafs*2 Frameshift 11/18 - 1
19-11226816-G-A c.1633G>A p.Gly545Arg Missense 11/18 - 1
19-11226816-G-T c.1633G>T p.Gly545Trp Missense 11/18 - 1
19-11226817-G-C c.1634G>C p.Gly545Ala Missense 11/18 - 1
19-11226817-G-A c.1634G>A p.Gly545Glu Missense 11/18 - 1
19-11226820-G-A c.1637G>A p.Gly546Asp Missense 11/18 - 3
19-11226822-C-G c.1639C>G p.Leu547Val Missense 11/18 - 1
19-11226822-CT-TA c.1639_1640delinsTA p.Leu547* Nonsense 11/18 - 1
19-11226827-T-G c.1644T>G p.Asn548Lys Missense 11/18 - 1
19-11226829-G-T c.1646G>T p.Gly549Val Missense 11/18 - 1
19-11226829-G-A c.1646G>A p.Gly549Asp Missense 11/18 - 5
19-11226838-AT-A c.1655del p.Ile552Thrfs*5 Frameshift 11/18 - 1
19-11226842-CTC-ATACTTTCA c.1659_1661delinsATACTTTCA p.Tyr553_Ser554delins* MultiAAMissense 11/18 - 1
19-11226844-C-T c.1661C>T p.Ser554Leu Missense 11/18 - 2
19-11226847-T-C c.1664T>C p.Leu555Pro Missense 11/18 - 2
19-11226853-C-G c.1670C>G p.Thr557Ser Missense 11/18 - 2
19-11226868-G-A c.1685G>A p.Trp562* Nonsense 11/18 - 2
19-11226870-C-T c.1687C>T p.Pro563Ser Missense 11/18 - 1
19-11226873-A-C c.1690A>C p.Asn564His Missense 11/18 - 5
19-11226874-A-G c.1691A>G p.Asn564Ser Missense 11/18 - 4
19-11226877-G-C c.1694G>C p.Gly565Ala Missense 11/18 - 2
19-11226877-G-A c.1694G>A p.Gly565Asp Missense 11/18 - 2
19-11226877-G-T c.1694G>T p.Gly565Val Missense 11/18 - 5
19-11226885-C-G c.1702C>G p.Leu568Val Missense 11/18 - 3
19-11226888-G-T c.1705G>T p.Asp569Tyr Missense 11/18 - 1
19-11226944-C-T c.1705+56C>T - IntronicSNV - 11/17 1
19-11227000-C-G c.1705+112C>G - IntronicSNV - 11/17 1
19-11227005-T-G c.1705+117T>G - IntronicSNV - 11/17 1
19-11227070-C-T c.1705+182C>T - IntronicSNV - 11/17 1
19-11227326-C-A c.1706-209C>A - IntronicSNV - 11/17 9
19-11227326-C-G c.1706-209C>G - IntronicSNV - 11/17 9
19-11227466-G-A c.1706-69G>A - IntronicSNV - 11/17 1
19-11227466-G-T c.1706-69G>T - IntronicSNV - 11/17 2
19-11227480-A-C c.1706-55A>C - IntronicSNV - 11/17 4
19-11227525-G-A c.1706-10G>A - IntronicSNV - 11/17 4
19-11227533-A-T c.1706-2A>T - IntronicSNV - 11/17 1
19-11227535-A-T c.1706A>T p.Asp569Val Missense 12/18 - 1
19-11227547-GG-G c.1718del p.Gly573Alafs*92 Frameshift 12/18 - 1
19-11227549-C-A c.1720C>A p.Arg574Ser Missense 12/18 - 3
19-11227549-C-T c.1720C>T p.Arg574Cys Missense 12/18 - 1
19-11227550-G-A c.1721G>A p.Arg574His Missense 12/18 - 1
19-11227552-C-T c.1723C>T p.Leu575Phe Missense 12/18 - 2
19-11227554-C-A c.1725C>A p.Leu575Leu Synonymous 12/18 - 2
19-11227554-C-G c.1725C>G p.Leu575Leu Synonymous 12/18 - 2
19-11227554-C-T c.1725C>T p.Leu575Leu Synonymous 12/18 - 11
19-11227556-A-C c.1727A>C p.Tyr576Ser Missense 12/18 - 1
19-11227558-T-C c.1729T>C p.Trp577Arg Missense 12/18 - 2
19-11227558-T-G c.1729T>G p.Trp577Gly Missense 12/18 - 2
19-11227559-G-A c.1730G>A p.Trp577* Nonsense 12/18 - 1
19-11227559-TGGGTTGACT-T c.1730_1738del p.Trp577_Asp579del InFrameDeletion 12/18 - 1
19-11227560-G-T c.1731G>T p.Trp577Cys Missense 12/18 - 3
19-11227560-G-A c.1731G>A p.Trp577* Nonsense 12/18 - 2
19-11227562-T-C c.1733T>C p.Val578Ala Missense 12/18 - 3
19-11227564-G-A c.1735G>A p.Asp579Asn Missense 12/18 - 1
19-11227565-A-G c.1736A>G p.Asp579Gly Missense 12/18 - 2
19-11227566-AC-A c.1737del p.Ser580Profs*85 Frameshift 12/18 - 1
19-11227568-C-T c.1739C>T p.Ser580Phe Missense 12/18 - 2
19-11227573-C-T c.1744C>T p.Leu582Phe Missense 12/18 - 3
19-11227576-C-T c.1747C>T p.His583Tyr Missense 12/18 - 11
19-11227577-A-G c.1748A>G p.His583Arg Missense 12/18 - 1
19-11227578-ACTCCA-A c.1749_1753del p.Ser584Leufs*17 Frameshift 12/18 - 1
19-11227579-T-C c.1750T>C p.Ser584Pro Missense 12/18 - 1
19-11227582-A-C c.1753A>C p.Ile585Leu Missense 12/18 - 1
19-11227583-T-C c.1754T>C p.Ile585Thr Missense 12/18 - 1
19-11227586-C-A c.1757C>A p.Ser586* Nonsense 12/18 - 3
19-11227594-G-T c.1765G>T p.Asp589Tyr Missense 12/18 - 1
19-11227594-G-A c.1765G>A p.Asp589Asn Missense 12/18 - 3
19-11227602-C-T c.1773C>T p.Asn591Asn Synonymous 12/18 - 72
19-11227603-G-A c.1774G>A p.Gly592Arg Missense 12/18 - 1
19-11227603-G-C c.1774G>C p.Gly592Arg Missense 12/18 - 1
19-11227604-GG-AC c.1775_1776delinsAC p.Gly592Asp Missense 12/18 - 1
19-11227604-G-A c.1775G>A p.Gly592Glu Missense 12/18 - 14
19-11227604-G-C c.1775G>C p.Gly592Ala Missense 12/18 - 1
19-11227605-GGGG-G c.1776_1778del p.Gly593del InFrameDeletion 12/18 - 1
19-11227613-G-A c.1784G>A p.Arg595Gln Missense 12/18 - 1
19-11227615-A-G c.1786A>G p.Lys596Glu Missense 12/18 - 1
19-11227622-T-C c.1793T>C p.Ile598Thr Missense 12/18 - 1
19-11227625-T-C c.1796T>C p.Leu599Ser Missense 12/18 - 1
19-11227630-G-T c.1801G>T p.Asp601Tyr Missense 12/18 - 3
19-11227630-G-C c.1801G>C p.Asp601His Missense 12/18 - 1
19-11227642-C-T c.1813C>T p.Leu605Leu Synonymous 12/18 - 3
19-11227645-G-T c.1816G>T p.Ala606Ser Missense 12/18 - 3
19-11227645-G-A c.1816G>A p.Ala606Thr Missense 12/18 - 3
19-11227651-C-A c.1822C>A p.Pro608Thr Missense 12/18 - 1
19-11227652-C-T c.1823C>T p.Pro608Leu Missense 12/18 - 1
19-11227658-C-G c.1829C>G p.Ser610Cys Missense 12/18 - 1
19-11227658-TCCT-T c.1829_1831del p.Ser610del InFrameDeletion 12/18 - 1
19-11227663-G-T c.1834G>T p.Ala612Ser Missense 12/18 - 1
19-11227665-C-T c.1836C>T p.Ala612Ala Synonymous 12/18 - 1
19-11227665-C-A c.1836C>A p.Ala612Ala Synonymous 12/18 - 1
19-11227666-G-A c.1837G>A p.Val613Ile Missense 12/18 - 1
19-11227671-T-TT c.1842dup p.Glu615* Nonsense 12/18 - 1
19-11227672-G-GG c.1843dup p.Glu615Glyfs*30 SpliceDonorInsertion 12/18 - 1
19-11227673-A-T c.1844A>T p.Glu615Val Missense 12/18 - 1
19-11227674-G-A c.1845G>A p.Glu615Glu Synonymous 12/18 - 1
19-11227675-G-A c.1845+1G>A - IntronicSNV - 12/17 1
19-11227685-C-G c.1845+11C>G - IntronicSNV - 12/17 1
19-11229968-C-T c.1846-800C>T - IntronicSNV - 12/17 3
19-11230402-G-T c.1846-366G>T - IntronicSNV - 12/17 1
19-11230768-G-A c.1846G>A p.Asp616Asn Missense 13/18 - 2
19-11230768-GA-AT c.1846_1847delinsAT p.Asp616Ile Missense 13/18 - 1
19-11230771-A-G c.1849A>G p.Lys617Glu Missense 13/18 - 1
19-11230775-T-G c.1853T>G p.Val618Gly Missense 13/18 - 1
19-11230777-T-C c.1855T>C p.Phe619Leu Missense 13/18 - 2
19-11230777-T-A c.1855T>A p.Phe619Ile Missense 13/18 - 1
19-11230779-T-G c.1857T>G p.Phe619Leu Missense 13/18 - 2
19-11230779-T-A c.1857T>A p.Phe619Leu Missense 13/18 - 2
19-11230778-T-C c.1856T>C p.Phe619Ser Missense 13/18 - 1
19-11230782-G-A c.1860G>A p.Trp620* Nonsense 13/18 - 1
19-11230784-C-G c.1862C>G p.Thr621Arg Missense 13/18 - 1
19-11230786-G-T c.1864G>T p.Asp622Tyr Missense 13/18 - 3
19-11230787-A-G c.1865A>G p.Asp622Gly Missense 13/18 - 1
19-11230789-A-T c.1867A>T p.Ile623Phe Missense 13/18 - 2
19-11230797-C-T c.1875C>T p.Asn625Asn Synonymous 13/18 - 1
19-11230798-G-A c.1876G>A p.Glu626Lys Missense 13/18 - 1
19-11230799-A-G c.1877A>G p.Glu626Gly Missense 13/18 - 1
19-11230800-AA-A c.1878del p.Ala627Profs*38 Frameshift 13/18 - 1
19-11230801-G-A c.1879G>A p.Ala627Thr Missense 13/18 - 8
19-11230807-TTCAG-GATCATCAACC c.1885_1889delinsGATCATCAACC p.Phe629_Ser630delinsAspHisGlnPro MultiAAMissense 13/18 - 1
19-11230808-TT-T c.1886del p.Phe629Serfs*36 Frameshift 13/18 - 1
19-11230817-A-T c.1895A>T p.Asn632Ile Missense 13/18 - 1
19-11230819-C-T c.1897C>T p.Arg633Cys Missense 13/18 - 3
19-11230829-G-C c.1907G>C p.Gly636Ala Missense 13/18 - 1
19-11230829-G-A c.1907G>A p.Gly636Asp Missense 13/18 - 1
19-11230838-T-G c.1916T>G p.Val639Gly Missense 13/18 - 1
19-11230842-C-G c.1920C>G p.Asn640Lys Missense 13/18 - 1
19-11230842-C-T c.1920C>T p.Asn640Asn Synonymous 13/18 - 3
19-11230849-GGCTGAAAACCTACTG-G c.1927_1941del p.Ala643_Leu647del InFrameDeletion 13/18 - 1
19-11230850-C-T c.1928C>T p.Ala643Val Missense 13/18 - 1
19-11230856-A-AA c.1934dup p.Asn645Lysfs*24 Frameshift 13/18 - 1
19-11230856-A-T c.1934A>T p.Asn645Ile Missense 13/18 - 1
19-11230864-T-C c.1942T>C p.Ser648Pro Missense 13/18 - 3
19-11230864-T-G c.1942T>G p.Ser648Ala Missense 13/18 - 1
19-11230867-C-T c.1945C>T p.Pro649Ser Missense 13/18 - 1
19-11230876-TAT-T c.1954_1955del p.Met652Glyfs*16 Frameshift 13/18 - 1
19-11230877-T-C c.1955T>C p.Met652Thr Missense 13/18 - 1
19-11230881-T-C c.1959T>C p.Val653Val Synonymous 13/18 - 30
19-11230881-T-A c.1959T>A p.Val653Val Synonymous 13/18 - 8
19-11230881-T-G c.1959T>G p.Val653Val Synonymous 13/18 - 8
19-11230888-C-A c.1966C>A p.His656Asn Missense 13/18 - 1
19-11230888-CCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAA-C c.1967_1987+38del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 13/18 13/17 1
19-11230898-C-A c.1976C>A p.Thr659Asn Missense 13/18 - 1
19-11230899-C-T c.1977C>T p.Thr659Thr Synonymous 13/18 - 1
19-11230899-C-G c.1977C>G p.Thr659Thr Synonymous 13/18 - 1
19-11230899-C-A c.1977C>A p.Thr659Thr Synonymous 13/18 - 2
19-11230901-A-G c.1979A>G p.Gln660Arg Missense 13/18 - 1
19-11231054-CTGGTGTGAGAGGACCAC-C c.1996_2012del p.Trp666Profs*45 Frameshift 14/18 - 1
19-11231055-G-A c.1997G>A p.Trp666* Nonsense 14/18 - 1
19-11231057-TG-AC c.1999_2000delinsAC p.Cys667Thr Missense 14/18 - 4
19-11231058-G-A c.2000G>A p.Cys667Tyr Missense 14/18 - 2
19-11231058-G-T c.2000G>T p.Cys667Phe Missense 14/18 - 2
19-11231059-TG-GT c.2001_2002delinsGT p.Cys667_Glu668delinsTrp* MultiAAMissense 14/18 - 1
19-11231059-T-G c.2001T>G p.Cys667Trp Missense 14/18 - 1
19-11231069-A-G c.2011A>G p.Thr671Ala Missense 14/18 - 1
19-11231079-A-G c.2021A>G p.Asn674Ser Missense 14/18 - 1
19-11231080-T-TT c.2022dup p.Gly675Trpfs*42 Frameshift 14/18 - 1
19-11231083-C-T c.2025C>T p.Gly675Gly Synonymous 14/18 - 1
19-11231083-C-G c.2025C>G p.Gly675Gly Synonymous 14/18 - 1
19-11231083-C-A c.2025C>A p.Gly675Gly Synonymous 14/18 - 1
19-11231084-G-C c.2026G>C p.Gly676Arg Missense 14/18 - 1
19-11231085-GG-G c.2027del p.Gly676Alafs*33 Frameshift 14/18 - 2
19-11231087-T-C c.2029T>C p.Cys677Arg Missense 14/18 - 1
19-11231087-TG-AC c.2029_2030delinsAC p.Cys677Thr Missense 14/18 - 11
19-11231088-TGCCAGTATCTGTG-T c.2030_2042del p.Cys677Serfs*28 Frameshift 14/18 - 1
19-11231088-G-A c.2030G>A p.Cys677Tyr Missense 14/18 - 2
19-11231090-C-T c.2032C>T p.Gln678* Nonsense 14/18 - 1
19-11231096-C-G c.2038C>G p.Leu680Val Missense 14/18 - 2
19-11231097-T-C c.2039T>C p.Leu680Pro Missense 14/18 - 1
19-11231100-G-C c.2042G>C p.Cys681Ser Missense 14/18 - 1
19-11231099-T-A c.2041T>A p.Cys681Ser Missense 14/18 - 1
19-11231099-T-G c.2041T>G p.Cys681Gly Missense 14/18 - 1
19-11231100-G-A c.2042G>A p.Cys681Tyr Missense 14/18 - 1
19-11231101-C-A c.2043C>A p.Cys681* Nonsense 14/18 - 12
19-11231111-C-T c.2053C>T p.Pro685Ser Missense 14/18 - 2
19-11231112-C-T c.2054C>T p.Pro685Leu Missense 14/18 - 15
19-11231112-CC-C c.2054del p.Pro685Argfs*24 Frameshift 14/18 - 1
19-11231133-C-G c.2075C>G p.Pro692Arg Missense 14/18 - 1
19-11231146-C-A c.2088C>A p.Cys696* Nonsense 14/18 - 1
19-11231151-G-T c.2093G>T p.Cys698Phe Missense 14/18 - 1
19-11231151-G-A c.2093G>A p.Cys698Tyr Missense 14/18 - 2
19-11231152-C-G c.2094C>G p.Cys698Trp Missense 14/18 - 1
19-11231154-CC-C c.2096del p.Pro699Argfs*10 Frameshift 14/18 - 1
19-11231154-C-T c.2096C>T p.Pro699Leu Missense 14/18 - 3
19-11231156-G-A c.2098G>A p.Asp700Asn Missense 14/18 - 1
19-11231157-A-G c.2099A>G p.Asp700Gly Missense 14/18 - 2
19-11231158-C-G c.2100C>G p.Asp700Glu Missense 14/18 - 1
19-11231164-G-A c.2106G>A p.Met702Ile Missense 14/18 - 1
19-11231175-G-T c.2117G>T p.Arg706Met Missense 14/18 - 3
19-11231177-G-T c.2119G>T p.Asp707Tyr Missense 14/18 - 1
19-11231189-TG-AC c.2131_2132delinsAC p.Cys711Thr Missense 14/18 - 2
19-11231190-G-A c.2132G>A p.Cys711Tyr Missense 14/18 - 1
19-11231190-G-C c.2132G>C p.Cys711Ser Missense 14/18 - 1
19-11231198-G-C c.2140G>C p.Glu714Gln Missense 14/18 - 2
19-11231199-G-A c.2140+1G>A - IntronicSNV - 14/17 1
19-11231203-G-A c.2140+5G>A - IntronicSNV - 14/17 9
19-11231284-C-G c.2140+86C>G - IntronicSNV - 14/17 1
19-11231301-G-T c.2140+103G>T - IntronicSNV - 14/17 1
19-11233847-C-A c.2141-3C>A - IntronicSNV - 14/17 1
19-11233851-G-A c.2142G>A p.Glu714Glu Synonymous 15/18 - 1
19-11233855-G-GG c.2146dup p.Glu716Glyfs*66 Frameshift 15/18 - 1
19-11233876-G-T c.2167G>T p.Glu723* Nonsense 15/18 - 2
19-11233886-C-T c.2177C>T p.Thr726Ile Missense 15/18 - 12
19-11233896-TAAAGGTCAGCT-T c.2187_2197del p.Lys730Hisfs*48 Frameshift 15/18 - 1
19-11233900-GG-G c.2191del p.Val731Serfs*6 Frameshift 15/18 - 1
19-11233909-ACA-TTT c.2200_2202delinsTTT p.Thr734Phe Missense 15/18 - 2
19-11233920-G-T c.2211G>T p.Arg737Ser Missense 15/18 - 1
19-11233939-C-T c.2230C>T p.Arg744* Nonsense 15/18 - 3
19-11233939-C-A c.2230C>A p.Arg744Arg Synonymous 15/18 - 4
19-11233939-CC-C c.2230del p.Arg744Aspfs*21 Frameshift 15/18 - 1
19-11233941-A-C c.2232A>C p.Arg744Arg Synonymous 15/18 - 4
19-11233941-A-T c.2232A>T p.Arg744Arg Synonymous 15/18 - 4
19-11233940-G-A c.2231G>A p.Arg744Gln Missense 15/18 - 6
19-11233941-A-G c.2232A>G p.Arg744Arg Synonymous 15/18 - 8
19-11233961-G-A c.2252G>A p.Arg751Gln Missense 15/18 - 1
19-11233973-GCCACCCCTGG-G c.2264_2273del p.Ala755Glyfs*7 Frameshift 15/18 - 1
19-11233998-G-T c.2289G>T p.Glu763Asp Missense 15/18 - 3
19-11234003-T-G c.2294T>G p.Val765Gly Missense 15/18 - 1
19-11234004-TGACAATGT-T c.2295_2302del p.Thr766Serfs*13 Frameshift 15/18 - 1
19-11234008-AA-A c.2299del p.Met767Cysfs*21 Frameshift 15/18 - 1
19-11234017-C-T c.2308C>T p.Gln770* Nonsense 15/18 - 1
19-11234020-G-A c.2311G>A p.Ala771Thr Missense 15/18 - 1
19-11234021-G-T c.2311+1G>T - IntronicSNV - 15/17 1
19-11236121-C-T c.2311+2101C>T - IntronicSNV - 15/17 1
19-11236121-C-G c.2311+2101C>G - IntronicSNV - 15/17 1
19-11236804-T-C c.2312-1880T>C - IntronicSNV - 15/17 2
19-11237269-G-A c.2312-1415G>A - IntronicSNV - 15/17 1
19-11237772-A-G c.2312-912A>G - IntronicSNV - 15/17 2
19-11238239-C-G c.2312-445C>G - IntronicSNV - 15/17 4
19-11238473-A-C c.2312-211A>C - IntronicSNV - 15/17 5
19-11238473-A-T c.2312-211A>T - IntronicSNV - 15/17 5
19-11238473-A-G c.2312-211A>G - IntronicSNV - 15/17 5
19-11238548-A-T c.2312-136A>T - IntronicSNV - 15/17 2
19-11238548-A-G c.2312-136A>G - IntronicSNV - 15/17 2
19-11238681-C-A c.2312-3C>A - IntronicSNV - 15/17 2
19-11238690-GG-G c.2318del p.Gly773Alafs*15 Frameshift 16/18 - 1
19-11238692-G-A c.2320G>A p.Asp774Asn Missense 16/18 - 1
19-11238704-AG-CT c.2332_2333inv p.Arg778Leu Missense 16/18 - 1
19-11238743-TC-CT c.2371_2372delinsCT p.Ser791Leu Missense 16/18 - 1
19-11238752-C-T c.2380C>T p.Leu794Phe Missense 16/18 - 1
19-11238756-C-T c.2384C>T p.Pro795Leu Missense 16/18 - 1
19-11238758-CATC-C c.2386_2388del p.Ile796del InFrameDeletion 16/18 - 1
19-11238761-G-T c.2389G>T p.Val797Leu Missense 16/18 - 3
19-11238761-G-A c.2389G>A p.Val797Met Missense 16/18 - 2
19-11238775-G-A c.2389+14G>A - IntronicSNV - 16/17 1
19-11238807-C-T c.2389+46C>T - IntronicSNV - 16/17 2
19-11238807-C-G c.2389+46C>G - IntronicSNV - 16/17 1
19-11238877-G-A c.2389+116G>A - IntronicSNV - 16/17 1
19-11238877-G-T c.2389+116G>T - IntronicSNV - 16/17 1
19-11240053-G-T c.2390-136G>T - IntronicSNV - 16/17 2
19-11240053-G-A c.2390-136G>A - IntronicSNV - 16/17 2
19-11240195-T-G c.2396T>G p.Leu799Arg Missense 17/18 - 2
19-11240196-TCGTCTTCCT-T c.2397_2405del p.Val800_Leu802del InFrameDeletion 17/18 - 1
19-11240212-GG-CT c.2413_2414delinsCT p.Gly805Leu Missense 17/18 - 1
19-11240212-G-A c.2413G>A p.Gly805Arg Missense 17/18 - 2
19-11240213-G-C c.2414G>C p.Gly805Ala Missense 17/18 - 1
19-11240215-G-GG c.2416dup p.Val806Glyfs*11 Frameshift 17/18 - 2
19-11240215-GG-G c.2416del p.Val806Serfs*123 Frameshift 17/18 - 1
19-11240230-A-T c.2431A>T p.Lys811* Nonsense 17/18 - 3
19-11240231-A-G c.2432A>G p.Lys811Arg Missense 17/18 - 1
19-11240236-TG-GC c.2437_2438delinsGC p.Trp813Ala Missense 17/18 - 1
19-11240242-C-T c.2443C>T p.Leu815Phe Missense 17/18 - 1
19-11240245-AA-GC c.2446_2447delinsGC p.Lys816Ala Missense 17/18 - 1
19-11240245-A-T c.2446A>T p.Lys816* Nonsense 17/18 - 2
19-11240248-AA-GC c.2449_2450delinsGC p.Asn817Ala Missense 17/18 - 1
19-11240257-AG-GA c.2458_2459delinsGA p.Ser820Asp Missense 17/18 - 1
19-11240260-ATC-GAG c.2461_2463delinsGAG p.Ile821Glu Missense 17/18 - 1
19-11240266-TT-GC c.2467_2468delinsGC p.Phe823Ala Missense 17/18 - 1
19-11240274-C-A c.2475C>A p.Asn825Lys Missense 17/18 - 3
19-11240275-C-A c.2476C>A p.Pro826Thr Missense 17/18 - 2
19-11240278-G-A c.2479G>A p.Val827Ile Missense 17/18 - 5
19-11240278-G-C c.2479G>C p.Val827Leu Missense 17/18 - 1
19-11240281-T-C c.2482T>C p.Tyr828His Missense 17/18 - 1
19-11240281-T-A c.2482T>A p.Tyr828Asn Missense 17/18 - 1
19-11240282-A-G c.2483A>G p.Tyr828Cys Missense 17/18 - 4
19-11240288-A-G c.2489A>G p.Lys830Arg Missense 17/18 - 1
19-11240294-ACA-A c.2495_2496del p.Thr832Argfs*3 Frameshift 17/18 - 1
19-11240296-G-A c.2497G>A p.Glu833Lys Missense 17/18 - 1
19-11240299-G-GC c.2500_2501insC p.Asp834Alafs*2 Frameshift 17/18 - 1
19-11240301-ATGA-A c.2502_2504del p.Asp834del InFrameDeletion 17/18 - 1
19-11240308-CC-C c.2509del p.His837Thrfs*92 Frameshift 17/18 - 1
19-11240317-CA-GC c.2518_2519delinsGC p.His840Ala Missense 17/18 - 3
19-11240330-G-A c.2531G>A p.Gly844Asp Missense 17/18 - 2
19-11240332-TA-GC c.2533_2534delinsGC p.Tyr845Ala Missense 17/18 - 1
19-11240345-C-A c.2546C>A p.Ser849* Nonsense 17/18 - 1
19-11240351-G-C c.2547+5G>C - IntronicSNV - 17/17 1
19-11241877-G-A c.2548-80G>A - IntronicSNV - 17/17 2
19-11241904-G-A c.2548-53G>A - IntronicSNV - 17/17 1
19-11241915-A-G c.2548-42A>G - IntronicSNV - 17/17 12
19-11241984-G-A c.2575G>A p.Val859Met Missense 18/18 - 3
19-11242041-G-A c.*49G>A - 3-UTRSNV 18/18 - 1
19-11242044-G-A c.*52G>A - 3-UTRSNV 18/18 - 13
19-11242133-G-A c.*141G>A - 3-UTRSNV 18/18 - 4
19-11242307-G-C c.*315G>C - 3-UTRSNV 18/18 - 6
19-11242496-G-A c.*504G>A - 3-UTRSNV 18/18 - 4
19-11242658-T-C c.*666T>C - 3-UTRSNV 18/18 - 18
19-11242658-T-A c.*666T>A - 3-UTRSNV 18/18 - 18
19-11242765-A-G c.*773A>G - 3-UTRSNV 18/18 - 9
19-11243160-G-A c.*1168G>A - 3-UTRSNV 18/18 - 1
19-11243422-C-T c.*1430C>T - 3-UTRSNV 18/18 - 1
19-11243422-C-A c.*1430C>A - 3-UTRSNV 18/18 - 1
19-11243445-A-G c.*1453A>G - 3-UTRSNV 18/18 - 9
19-11243502-T-C c.*1510T>C - 3-UTRSNV 18/18 - 1
19-11243735-C-T c.*1743C>T - 3-UTRSNV 18/18 - 1
19-11243735-C-G c.*1743C>G - 3-UTRSNV 18/18 - 1