CALR

CALR calreticulin

Annotation transcript: NM_004343.4

1304 unique variant annotations were identified in 1147 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
19-13049446-G-A c.-48G>A - 5-UTRSNV 1/9 - 2
19-13049446-G-C c.-48G>C - 5-UTRSNV 1/9 - 2
19-13049446-G-T c.-48G>T - 5-UTRSNV 1/9 - 2
19-13049451-G-A c.-43G>A - 5-UTRSNV 1/9 - 1
19-13049473-T-A c.-21T>A - 5-UTRSNV 1/9 - 2
19-13049473-T-C c.-21T>C - 5-UTRSNV 1/9 - 2
19-13049473-T-G c.-21T>G - 5-UTRSNV 1/9 - 2
19-13049490-C-T c.-4C>T - 5-UTRSNV 1/9 - 4
19-13049496-G-A c.3G>A p.M1? Missense 1/9 - 1
19-13049496-G-C c.3G>C p.M1? Missense 1/9 - 1
19-13049498-T-C c.5T>C p.L2P Missense 1/9 - 1
19-13049498-TG-AT c.5_6delinsAT p.L2H Missense 1/9 - 1
19-13049494-ATGC-A c.6_8del p.L3del InFrameDeletion 1/9 - 1
19-13049497-C-T c.4C>T p.L2= Synonymous 1/9 - 6
19-13049499-G-A c.6G>A p.L2= Synonymous 1/9 - 5
19-13049499-G-C c.6G>C p.L2= Synonymous 1/9 - 5
19-13049499-G-T c.6G>T p.L2= Synonymous 1/9 - 5
19-13049500-CTA-AAC c.7_9delinsAAC p.L3N Missense 1/9 - 1
19-13049501-T-G c.8T>G p.L3R Missense 1/9 - 1
19-13049500-C-T c.7C>T p.L3= Synonymous 1/9 - 3
19-13049500-CTA-C c.9_10del p.S4Rfs*55 Frameshift 1/9 - 1
19-13049502-A-C c.9A>C p.L3= Synonymous 1/9 - 2
19-13049502-A-G c.9A>G p.L3= Synonymous 1/9 - 3
19-13049502-A-T c.9A>T p.L3= Synonymous 1/9 - 2
19-13049503-T-C c.10T>C p.S4P Missense 1/9 - 1
19-13049505-C-A c.12C>A p.S4= Synonymous 1/9 - 3
19-13049505-C-CCA c.12_13insCA p.V5Qfs*94 Frameshift 1/9 - 1
19-13049505-C-G c.12C>G p.S4= Synonymous 1/9 - 3
19-13049505-C-T c.12C>T p.S4= Synonymous 1/9 - 4
19-13049504-CCGTGCCGCTGCTGCTCGG-C c.13_30del p.V5_G10del InFrameDeletion 1/9 - 1
19-13049506-G-A c.13G>A p.V5M Missense 1/9 - 1
19-13049506-GTG-AAC c.13_15delinsAAC p.V5N Missense 1/9 - 1
19-13049508-G-A c.15G>A p.V5= Synonymous 1/9 - 2
19-13049508-G-C c.15G>C p.V5= Synonymous 1/9 - 2
19-13049508-G-T c.15G>T p.V5= Synonymous 1/9 - 2
19-13049511-G-A c.18G>A p.P6= Synonymous 1/9 - 2
19-13049511-G-C c.18G>C p.P6= Synonymous 1/9 - 2
19-13049511-G-T c.18G>T p.P6= Synonymous 1/9 - 2
19-13049515-C-G c.22C>G p.L8V Missense 1/9 - 2
19-13049515-C-T c.22C>T p.L8= Synonymous 1/9 - 2
19-13049517-G-A c.24G>A p.L8= Synonymous 1/9 - 1
19-13049517-G-C c.24G>C p.L8= Synonymous 1/9 - 1
19-13049517-G-T c.24G>T p.L8= Synonymous 1/9 - 1
19-13049520-C-T c.27C>T p.L9= Synonymous 1/9 - 1
19-13049521-G-A c.28G>A p.G10S Missense 1/9 - 2
19-13049521-GG-CA c.28_29delinsCA p.G10H Missense 1/9 - 1
19-13049522-G-A c.29G>A p.G10D Missense 1/9 - 2
19-13049523-C-A c.30C>A p.G10= Synonymous 1/9 - 2
19-13049523-C-G c.30C>G p.G10= Synonymous 1/9 - 2
19-13049523-C-T c.30C>T p.G10= Synonymous 1/9 - 2
19-13049524-C-G c.31C>G p.L11V Missense 1/9 - 1
19-13049525-T-C c.32T>C p.L11P Missense 1/9 - 1
19-13049527-C-T c.34C>T p.L12F Missense 1/9 - 2
19-13049527-CTC-GAG c.34_36inv p.L12E Missense 1/9 - 1
19-13049527-CT-GA c.34_35delinsGA p.L12D Missense 1/9 - 1
19-13049527-CT-GC c.34_35delinsGC p.L12A Missense 1/9 - 1
19-13049527-CT-TG c.34_35delinsTG p.L12C Missense 1/9 - 1
19-13049528-T-C c.35T>C p.L12P Missense 1/9 - 2
19-13049528-T-TG c.35_36insG p.G13Rfs*47 Frameshift 1/9 - 1
19-13049529-C-A c.36C>A p.L12= Synonymous 1/9 - 1
19-13049529-C-G c.36C>G p.L12= Synonymous 1/9 - 1
19-13049529-C-T c.36C>T p.L12= Synonymous 1/9 - 1
19-13049530-G-A c.37G>A p.G13S Missense 1/9 - 1
19-13049530-G-C c.37G>C p.G13R Missense 1/9 - 1
19-13049530-G-T c.37G>T p.G13C Missense 1/9 - 2
19-13049531-G-A c.38G>A p.G13D Missense 1/9 - 4
19-13049531-G-C c.38G>C p.G13A Missense 1/9 - 2
19-13049531-G-T c.38G>T p.G13V Missense 1/9 - 1
19-13049533-CT-GA c.40_41delinsGA p.L14E Missense 1/9 - 1
19-13049536-GC-AT c.43_44delinsAT p.A15I Missense 1/9 - 2
19-13049536-GC-CA c.43_44delinsCA p.A15H Missense 1/9 - 1
19-13049536-GCC-ATG c.43_45delinsATG p.A15M Missense 1/9 - 3
19-13049536-GCC-TAA c.43_45delinsTAA p.A15* Nonsense 1/9 - 2
19-13049536-GC-TG c.43_44delinsTG p.A15C Missense 1/9 - 1
19-13049536-GC-TT c.43_44delinsTT p.A15F Missense 1/9 - 1
19-13049537-CC-AG c.44_45delinsAG p.A15E Missense 1/9 - 4
19-13049537-C-T c.44C>T p.A15V Missense 1/9 - 1
19-13049538-C-A c.45C>A p.A15= Synonymous 1/9 - 3
19-13049538-C-G c.45C>G p.A15= Synonymous 1/9 - 3
19-13049538-C-T c.45C>T p.A15= Synonymous 1/9 - 4
19-13049539-G-A c.46G>A p.V16I Missense 1/9 - 10
19-13049539-G-T c.46G>T p.V16F Missense 1/9 - 1
19-13049540-T-A c.47T>A p.V16D Missense 1/9 - 1
19-13049540-T-C c.47T>C p.V16A Missense 1/9 - 1
19-13049541-C-A c.48C>A p.V16= Synonymous 1/9 - 1
19-13049541-C-G c.48C>G p.V16= Synonymous 1/9 - 1
19-13049541-C-T c.48C>T p.V16= Synonymous 1/9 - 1
19-13049542-GC-AT c.49_50delinsAT p.A17I Missense 1/9 - 1
19-13049542-GCC-CAA c.49_51delinsCAA p.A17Q Missense 1/9 - 2
19-13049542-GC-CG c.49_50delinsCG p.A17R Missense 1/9 - 1
19-13049542-G-T c.49G>T p.A17S Missense 1/9 - 1
19-13049543-C-A c.50C>A p.A17D Missense 1/9 - 3
19-13049543-C-G c.50C>G p.A17G Missense 1/9 - 1
19-13049544-C-A c.51C>A p.A17= Synonymous 1/9 - 3
19-13049544-C-G c.51C>G p.A17= Synonymous 1/9 - 3
19-13049544-C-T c.51C>T p.A17= Synonymous 1/9 - 3
19-13049545-G-A c.52G>A p.E18K Missense 1/9 - 2
19-13049545-GA-AT c.52_53delinsAT p.E18M Missense 1/9 - 2
19-13049545-GA-TC c.52_53inv p.E18S Missense 1/9 - 1
19-13049546-A-C c.53A>C p.E18A Missense 1/9 - 1
19-13049548-CCT-AAG c.55_57delinsAAG p.P19K Missense 1/9 - 3
19-13049548-CC-TG c.55_56delinsTG p.P19C Missense 1/9 - 1
19-13049551-G-A c.58G>A p.A20T Missense 1/9 - 2
19-13049551-GC-AT c.58_59delinsAT p.A20I Missense 1/9 - 1
19-13049551-GC-CG c.58_59delinsCG p.A20R Missense 1/9 - 2
19-13049551-GCC-TGG c.58_60delinsTGG p.A20W Missense 1/9 - 1
19-13049551-GC-TG c.58_59delinsTG p.A20C Missense 1/9 - 3
19-13049552-C-A c.59C>A p.A20D Missense 1/9 - 3
19-13049552-CC-AG c.59_60delinsAG p.A20E Missense 1/9 - 1
19-13049553-C-A c.60C>A p.A20= Synonymous 1/9 - 1
19-13049553-C-G c.60C>G p.A20= Synonymous 1/9 - 1
19-13049553-C-T c.60C>T p.A20= Synonymous 1/9 - 1
19-13049556-C-A c.63C>A p.V21= Synonymous 1/9 - 1
19-13049556-C-G c.63C>G p.V21= Synonymous 1/9 - 2
19-13049556-C-T c.63C>T p.V21= Synonymous 1/9 - 1
19-13049557-TAC-AAG c.64_66delinsAAG p.Y22K Missense 1/9 - 2
19-13049558-A-G c.65A>G p.Y22C Missense 1/9 - 1
19-13049560-TT-GC c.67_68delinsGC p.F23A Missense 1/9 - 1
19-13049563-AA-GC c.70_71delinsGC p.K24A Missense 1/9 - 2
19-13049563-A-C c.70A>C p.K24Q Missense 1/9 - 1
19-13049564-A-G c.71A>G p.K24R Missense 1/9 - 1
19-13049564-AG-GC c.71_72delinsGC p.K24S Missense 1/9 - 1
19-13049566-GAG-ATC c.73_75delinsATC p.E25I Missense 1/9 - 1
19-13049567-A-G c.74A>G p.E25G Missense 1/9 - 1
19-13049569-C-A c.76C>A p.Q26K Missense 1/9 - 1
19-13049569-CAG-TTT c.76_78delinsTTT p.Q26F Missense 1/9 - 1
19-13049569-C-G c.76C>G p.Q26E Missense 1/9 - 1
19-13049572-T-C c.79T>C p.F27L Missense 1/9 - 1
19-13049574-T-A c.81T>A p.F27L Missense 1/9 - 1
19-13049574-T-G c.81T>G p.F27L Missense 1/9 - 1
19-13049573-T-G c.80T>G p.F27C Missense 1/9 - 1
19-13049575-C-T c.82C>T p.L28= Synonymous 1/9 - 1
19-13049575-CT-AA c.82_83delinsAA p.L28K Missense 1/9 - 1
19-13049576-T-G c.83T>G p.L28R Missense 1/9 - 1
19-13049578-GA-AT c.85_86delinsAT p.D29I Missense 1/9 - 1
19-13049580-C-T c.87C>T p.D29= Synonymous 1/9 - 1
19-13049581-GGA-TGT c.88_90delinsTGT p.G30C Missense 1/9 - 1
19-13049582-G-T c.89G>T p.G30V Missense 1/9 - 1
19-13049584-G-A c.91G>A p.D31N Missense 1/9 - 1
19-13049592-C-A c.91+8C>A - IntronicSNV - 1/8 1
19-13049629-G-T c.91+45G>T - IntronicSNV - 1/8 1
19-13049949-C-G c.93C>G p.D31E Missense 2/9 - 1
19-13049950-GG-CC c.94_95inv p.G32P Missense 2/9 - 2
19-13049956-A-G c.100A>G p.T34A Missense 2/9 - 1
19-13049957-ACTTCCC-A c.101_106del p.T34_R36delinsS MultiAAMissense 2/9 - 1
19-13049957-C-A c.101C>A p.T34N Missense 2/9 - 1
19-13049957-C-T c.101C>T p.T34I Missense 2/9 - 1
19-13049959-TCC-GAG c.103_105delinsGAG p.S35E Missense 2/9 - 1
19-13049959-TC-GA c.103_104inv p.S35D Missense 2/9 - 1
19-13049959-TC-GG c.103_104delinsGG p.S35G Missense 2/9 - 1
19-13049959-T-G c.103T>G p.S35A Missense 2/9 - 2
19-13049960-C-T c.104C>T p.S35F Missense 2/9 - 3
19-13049960-TCCCGCTGGATCGAATCCAAACACA-T c.104_127del p.S35_K43delins* MultiAAMissense 2/9 - 1
19-13049959-TC-T c.106del p.R36Afs*62 Frameshift 2/9 - 1
19-13049962-C-T c.106C>T p.R36C Missense 2/9 - 1
19-13049963-GC-AA c.107_108delinsAA p.R36Q Missense 2/9 - 1
19-13049965-T-A c.109T>A p.W37R Missense 2/9 - 1
19-13049965-T-C c.109T>C p.W37R Missense 2/9 - 1
19-13049969-T-C c.113T>C p.I38T Missense 2/9 - 1
19-13049969-TC-GG c.113_114delinsGG p.I38R Missense 2/9 - 1
19-13049969-T-G c.113T>G p.I38S Missense 2/9 - 1
19-13049972-A-G c.116A>G p.E39G Missense 2/9 - 1
19-13049974-AT-A c.118del p.S40Pfs*58 Frameshift 2/9 - 1
19-13049974-TC-CG c.118_119delinsCG p.S40R Missense 2/9 - 1
19-13049974-TCC-GAG c.118_120delinsGAG p.S40E Missense 2/9 - 1
19-13049974-TC-GG c.118_119delinsGG p.S40G Missense 2/9 - 1
19-13049975-C-T c.119C>T p.S40F Missense 2/9 - 3
19-13049977-AAA-GAC c.121_123delinsGAC p.K41D Missense 2/9 - 1
19-13049977-AA-GC c.121_122delinsGC p.K41A Missense 2/9 - 3
19-13049979-A-G c.123A>G p.K41= Synonymous 2/9 - 1
19-13049979-A-T c.123A>T p.K41N Missense 2/9 - 1
19-13049980-CA-GC c.124_125delinsGC p.H42A Missense 2/9 - 1
19-13049981-A-G c.125A>G p.H42R Missense 2/9 - 1
19-13049981-A-T c.125A>T p.H42L Missense 2/9 - 1
19-13049983-A-C c.127A>C p.K43Q Missense 2/9 - 1
19-13049983-A-G c.127A>G p.K43E Missense 2/9 - 1
19-13049984-A-C c.128A>C p.K43T Missense 2/9 - 2
19-13049984-A-G c.128A>G p.K43R Missense 2/9 - 2
19-13049986-T-A c.130T>A p.S44T Missense 2/9 - 1
19-13049987-C-T c.131C>T p.S44L Missense 2/9 - 1
19-13049989-G-T c.133G>T p.D45Y Missense 2/9 - 3
19-13049990-A-T c.134A>T p.D45V Missense 2/9 - 1
19-13049992-TT-CA c.136_137delinsCA p.F46H Missense 2/9 - 1
19-13049992-TT-CG c.136_137delinsCG p.F46R Missense 2/9 - 1
19-13049992-TT-GA c.136_137delinsGA p.F46D Missense 2/9 - 1
19-13049992-TT-GC c.136_137delinsGC p.F46A Missense 2/9 - 1
19-13049993-T-A c.137T>A p.F46Y Missense 2/9 - 4
19-13049993-T-G c.137T>G p.F46C Missense 2/9 - 1
19-13049995-G-C c.139G>C p.G47R Missense 2/9 - 1
19-13049996-G-C c.140G>C p.G47A Missense 2/9 - 4
19-13049996-GC-AG c.140_141delinsAG p.G47E Missense 2/9 - 2
19-13049996-G-T c.140G>T p.G47V Missense 2/9 - 2
19-13049998-AA-CT c.142_143delinsCT p.K48L Missense 2/9 - 1
19-13049998-AA-GC c.142_143delinsGC p.K48A Missense 2/9 - 1
19-13049999-A-G c.143A>G p.K48R Missense 2/9 - 6
19-13050000-A-G c.144A>G p.K48= Synonymous 2/9 - 1
19-13050001-TT-GA c.145_146delinsGA p.F49D Missense 2/9 - 1
19-13050001-TT-GC c.145_146delinsGC p.F49A Missense 2/9 - 1
19-13050003-C-G c.147C>G p.F49L Missense 2/9 - 1
19-13050004-GTT-ATG c.148_150delinsATG p.V50M Missense 2/9 - 1
19-13050005-GTTCTCAGTTCCGGCAAGTTCTACGGTGACGAGGAGAAAGATAAAGGTAAGAGCCTAGGA-G c.149_193+14del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/9 2/8 1
19-13050005-T-A c.149T>A p.V50D Missense 2/9 - 1
19-13050006-T-A c.150T>A p.V50= Synonymous 2/9 - 1
19-13050006-T-C c.150T>C p.V50= Synonymous 2/9 - 3
19-13050006-T-G c.150T>G p.V50= Synonymous 2/9 - 1
19-13050007-C-G c.151C>G p.L51V Missense 2/9 - 5
19-13050008-T-C c.152T>C p.L51P Missense 2/9 - 1
19-13050010-A-C c.154A>C p.S52R Missense 2/9 - 1
19-13050010-AG-CC c.154_155delinsCC p.S52P Missense 2/9 - 8
19-13050011-G-C c.155G>C p.S52T Missense 2/9 - 1
19-13050011-G-T c.155G>T p.S52I Missense 2/9 - 1
19-13050013-T-C c.157T>C p.S53P Missense 2/9 - 1
19-13050013-TC-GG c.157_158delinsGG p.S53G Missense 2/9 - 1
19-13050015-C-A c.159C>A p.S53= Synonymous 2/9 - 1
19-13050015-C-G c.159C>G p.S53= Synonymous 2/9 - 1
19-13050015-C-T c.159C>T p.S53= Synonymous 2/9 - 1
19-13050016-G-A c.160G>A p.G54S Missense 2/9 - 2
19-13050017-G-A c.161G>A p.G54D Missense 2/9 - 1
19-13050019-AA-GC c.163_164delinsGC p.K55A Missense 2/9 - 1
19-13050021-G-A c.165G>A p.K55= Synonymous 2/9 - 1
19-13050022-T-C c.166T>C p.F56L Missense 2/9 - 4
19-13050022-TTC-GAG c.166_168delinsGAG p.F56E Missense 2/9 - 1
19-13050024-C-A c.168C>A p.F56L Missense 2/9 - 7
19-13050024-C-G c.168C>G p.F56L Missense 2/9 - 5
19-13050023-T-C c.167T>C p.F56S Missense 2/9 - 1
19-13050025-TA-GC c.169_170delinsGC p.Y57A Missense 2/9 - 1
19-13050025-T-TAGC c.170_171insGCA p.Y57delins* Nonsense 2/9 - 1
19-13050026-A-G c.170A>G p.Y57C Missense 2/9 - 5
19-13050029-G-A c.173G>A p.G58D Missense 2/9 - 2
19-13050029-G-C c.173G>C p.G58A Missense 2/9 - 1
19-13050031-G-A c.175G>A p.D59N Missense 2/9 - 2
19-13050033-C-T c.177C>T p.D59= Synonymous 2/9 - 1
19-13050034-G-A c.178G>A p.E60K Missense 2/9 - 1
19-13050034-G-T c.178G>T p.E60* Nonsense 2/9 - 1
19-13050035-A-G c.179A>G p.E60G Missense 2/9 - 1
19-13050036-G-C c.180G>C p.E60D Missense 2/9 - 2
19-13050036-G-T c.180G>T p.E60D Missense 2/9 - 2
19-13050037-G-A c.181G>A p.E61K Missense 2/9 - 4
19-13050037-GA-AG c.181_182delinsAG p.E61R Missense 2/9 - 1
19-13050037-G-C c.181G>C p.E61Q Missense 2/9 - 1
19-13050037-G-T c.181G>T p.E61* Nonsense 2/9 - 2
19-13050040-AA-GC c.184_185delinsGC p.K62A Missense 2/9 - 1
19-13050040-A-G c.184A>G p.K62E Missense 2/9 - 1
19-13050041-A-G c.185A>G p.K62R Missense 2/9 - 3
19-13050042-A-C c.186A>C p.K62N Missense 2/9 - 2
19-13050042-A-G c.186A>G p.K62= Synonymous 2/9 - 1
19-13050042-A-T c.186A>T p.K62N Missense 2/9 - 2
19-13050043-G-A c.187G>A p.D63N Missense 2/9 - 1
19-13050043-G-C c.187G>C p.D63H Missense 2/9 - 1
19-13050044-A-G c.188A>G p.D63G Missense 2/9 - 6
19-13050045-T-A c.189T>A p.D63E Missense 2/9 - 1
19-13050045-T-C c.189T>C p.D63= Synonymous 2/9 - 1
19-13050045-T-G c.189T>G p.D63E Missense 2/9 - 1
19-13050047-A-C c.191A>C p.K64T Missense 2/9 - 2
19-13050048-A-G c.192A>G p.K64= Synonymous 2/9 - 1
19-13050049-G-A c.193G>A p.G65S Missense 2/9 - 1
19-13050049-G-T c.193G>T p.G65C Missense 2/9 - 1
19-13050090-C-G c.193+41C>G - IntronicSNV - 2/8 1
19-13050201-A-G c.194-41A>G - IntronicSNV - 2/8 1
19-13050242-G-A c.194G>A p.G65D Missense 3/9 - 1
19-13050244-T-C c.196T>C p.L66= Synonymous 3/9 - 1
19-13050244-TT-AC c.196_197delinsAC p.L66T Missense 3/9 - 1
19-13050246-G-A c.198G>A p.L66= Synonymous 3/9 - 1
19-13050248-A-G c.200A>G p.Q67R Missense 3/9 - 1
19-13050249-G-C c.201G>C p.Q67H Missense 3/9 - 3
19-13050249-G-T c.201G>T p.Q67H Missense 3/9 - 2
19-13050251-C-T c.203C>T p.T68I Missense 3/9 - 1
19-13050252-A-C c.204A>C p.T68= Synonymous 3/9 - 1
19-13050252-A-G c.204A>G p.T68= Synonymous 3/9 - 1
19-13050252-A-T c.204A>T p.T68= Synonymous 3/9 - 1
19-13050253-A-G c.205A>G p.S69G Missense 3/9 - 1
19-13050253-AGC-TGA c.205_207delinsTGA p.S69* Nonsense 3/9 - 1
19-13050254-G-A c.206G>A p.S69N Missense 3/9 - 3
19-13050254-G-C c.206G>C p.S69T Missense 3/9 - 1
19-13050255-C-A c.207C>A p.S69R Missense 3/9 - 1
19-13050255-C-T c.207C>T p.S69= Synonymous 3/9 - 1
19-13050257-A-G c.209A>G p.Q70R Missense 3/9 - 2
19-13050257-A-T c.209A>T p.Q70L Missense 3/9 - 1
19-13050258-G-T c.210G>T p.Q70H Missense 3/9 - 1
19-13050259-GAT-AAG c.211_213delinsAAG p.D71K Missense 3/9 - 3
19-13050260-A-C c.212A>C p.D71A Missense 3/9 - 1
19-13050262-GCA-TGT c.214_216delinsTGT p.A72C Missense 3/9 - 2
19-13050262-GCA-TTT c.214_216delinsTTT p.A72F Missense 3/9 - 1
19-13050263-C-A c.215C>A p.A72E Missense 3/9 - 1
19-13050263-CA-AC c.215_216delinsAC p.A72D Missense 3/9 - 1
19-13050263-C-G c.215C>G p.A72G Missense 3/9 - 1
19-13050264-A-C c.216A>C p.A72= Synonymous 3/9 - 1
19-13050264-A-G c.216A>G p.A72= Synonymous 3/9 - 1
19-13050264-A-T c.216A>T p.A72= Synonymous 3/9 - 1
19-13050265-C-G c.217C>G p.R73G Missense 3/9 - 2
19-13050265-CGC-AAG c.217_219delinsAAG p.R73K Missense 3/9 - 1
19-13050266-G-A c.218G>A p.R73H Missense 3/9 - 1
19-13050266-GC-AA c.218_219delinsAA p.R73Q Missense 3/9 - 2
19-13050266-G-T c.218G>T p.R73L Missense 3/9 - 1
19-13050268-TT-GC c.220_221delinsGC p.F74A Missense 3/9 - 1
19-13050269-T-G c.221T>G p.F74C Missense 3/9 - 1
19-13050271-T-C c.223T>C p.Y75H Missense 3/9 - 2
19-13050272-A-G c.224A>G p.Y75C Missense 3/9 - 1
19-13050274-GC-TG c.226_227delinsTG p.A76C Missense 3/9 - 1
19-13050275-C-G c.227C>G p.A76G Missense 3/9 - 1
19-13050275-C-T c.227C>T p.A76V Missense 3/9 - 1
19-13050275-CT-AG c.227_228inv p.A76E Missense 3/9 - 1
19-13050278-T-G c.230T>G p.L77R Missense 3/9 - 1
19-13050280-TCG-AAC c.232_234delinsAAC p.S78N Missense 3/9 - 1
19-13050281-CG-GT c.233_234delinsGT p.S78C Missense 3/9 - 1
19-13050281-C-T c.233C>T p.S78L Missense 3/9 - 1
19-13050281-CG-C c.235del p.A79Pfs*19 Frameshift 3/9 - 1
19-13050283-GC-TG c.235_236delinsTG p.A79C Missense 3/9 - 2
19-13050283-GC-TT c.235_236delinsTT p.A79F Missense 3/9 - 2
19-13050284-C-A c.236C>A p.A79D Missense 3/9 - 1
19-13050284-C-T c.236C>T p.A79V Missense 3/9 - 1
19-13050286-AG-CT c.238_239inv p.S80L Missense 3/9 - 2
19-13050287-G-C c.239G>C p.S80T Missense 3/9 - 1
19-13050287-G-T c.239G>T p.S80I Missense 3/9 - 4
19-13050287-GTT-G c.241_242del p.F81Rfs*19 Frameshift 3/9 - 1
19-13050289-TTC-GAG c.241_243delinsGAG p.F81E Missense 3/9 - 1
19-13050289-TTTC-T c.241_243del p.F81del InFrameDeletion 3/9 - 1
19-13050291-C-T c.243C>T p.F81= Synonymous 3/9 - 1
19-13050293-A-G c.245A>G p.E82G Missense 3/9 - 2
19-13050294-G-C c.246G>C p.E82D Missense 3/9 - 2
19-13050294-G-T c.246G>T p.E82D Missense 3/9 - 2
19-13050295-C-A c.247C>A p.P83T Missense 3/9 - 1
19-13050296-C-T c.248C>T p.P83L Missense 3/9 - 1
19-13050298-TTC-GAG c.250_252delinsGAG p.F84E Missense 3/9 - 1
19-13050298-TT-GC c.250_251delinsGC p.F84A Missense 3/9 - 1
19-13050299-T-G c.251T>G p.F84C Missense 3/9 - 2
19-13050301-AG-GC c.253_254delinsGC p.S85A Missense 3/9 - 1
19-13050301-A-T c.253A>T p.S85C Missense 3/9 - 1
19-13050304-AAC-CAA c.256_258delinsCAA p.N86Q Missense 3/9 - 1
19-13050304-A-G c.256A>G p.N86D Missense 3/9 - 1
19-13050304-A-T c.256A>T p.N86Y Missense 3/9 - 16
19-13050305-A-G c.257A>G p.N86S Missense 3/9 - 1
19-13050311-G-A c.263G>A p.G88D Missense 3/9 - 1
19-13050312-C-A c.264C>A p.G88= Synonymous 3/9 - 1
19-13050312-C-G c.264C>G p.G88= Synonymous 3/9 - 1
19-13050312-C-T c.264C>T p.G88= Synonymous 3/9 - 1
19-13050313-C-G c.265C>G p.Q89E Missense 3/9 - 1
19-13050316-A-G c.268A>G p.T90A Missense 3/9 - 4
19-13050316-A-T c.268A>T p.T90S Missense 3/9 - 1
19-13050317-C-T c.269C>T p.T90M Missense 3/9 - 3
19-13050318-G-A c.270G>A p.T90= Synonymous 3/9 - 1
19-13050318-G-C c.270G>C p.T90= Synonymous 3/9 - 1
19-13050318-G-T c.270G>T p.T90= Synonymous 3/9 - 1
19-13050319-C-A c.271C>A p.L91M Missense 3/9 - 1
19-13050319-CT-GC c.271_272delinsGC p.L91A Missense 3/9 - 1
19-13050319-CTG-GAC c.271_273delinsGAC p.L91D Missense 3/9 - 1
19-13050319-CT-TC c.271_272delinsTC p.L91S Missense 3/9 - 1
19-13050322-GTG-ATC c.274_276delinsATC p.V92I Missense 3/9 - 1
19-13050322-GTG-TTT c.274_276delinsTTT p.V92F Missense 3/9 - 1
19-13050323-T-G c.275T>G p.V92G Missense 3/9 - 4
19-13050325-G-C c.277G>C p.V93L Missense 3/9 - 1
19-13050325-G-T c.277G>T p.V93L Missense 3/9 - 1
19-13050326-T-C c.278T>C p.V93A Missense 3/9 - 1
19-13050329-A-T c.281A>T p.Q94L Missense 3/9 - 1
19-13050330-G-A c.282G>A p.Q94= Synonymous 3/9 - 2
19-13050331-T-G c.283T>G p.F95V Missense 3/9 - 1
19-13050334-A-G c.286A>G p.T96A Missense 3/9 - 1
19-13050334-A-T c.286A>T p.T96S Missense 3/9 - 1
19-13050335-C-T c.287C>T p.T96M Missense 3/9 - 1
19-13050337-G-C c.289G>C p.V97L Missense 3/9 - 2
19-13050337-G-T c.289G>T p.V97L Missense 3/9 - 2
19-13050341-A-G c.293A>G p.K98R Missense 3/9 - 1
19-13050339-GA-G c.294del p.K98Nfs*13 Frameshift 3/9 - 1
19-13050343-CA-AG c.295_296delinsAG p.H99S Missense 3/9 - 2
19-13050343-CA-GC c.295_296delinsGC p.H99A Missense 3/9 - 1
19-13050346-G-C c.298G>C p.E100Q Missense 3/9 - 3
19-13050347-A-C c.299A>C p.E100A Missense 3/9 - 1
19-13050348-G-GC c.301dup p.Q101Pfs*15 Frameshift 3/9 - 1
19-13050349-C-G c.301C>G p.Q101E Missense 3/9 - 1
19-13050349-C-T c.301C>T p.Q101* Nonsense 3/9 - 2
19-13050350-A-G c.302A>G p.Q101R Missense 3/9 - 2
19-13050351-G-T c.303G>T p.Q101H Missense 3/9 - 1
19-13050355-A-T c.307A>T p.I103F Missense 3/9 - 1
19-13050356-T-C c.308T>C p.I103T Missense 3/9 - 2
19-13050361-TG-GC c.313_314delinsGC p.C105A Missense 3/9 - 1
19-13050363-T-C c.315T>C p.C105= Synonymous 3/9 - 1
19-13050363-T-G c.315T>G p.C105W Missense 3/9 - 1
19-13050365-G-A c.317G>A p.G106E Missense 3/9 - 1
19-13050365-G-T c.317G>T p.G106V Missense 3/9 - 1
19-13050366-G-A c.318G>A p.G106= Synonymous 3/9 - 2
19-13050366-G-C c.318G>C p.G106= Synonymous 3/9 - 2
19-13050366-G-T c.318G>T p.G106= Synonymous 3/9 - 3
19-13050368-G-A c.320G>A p.G107D Missense 3/9 - 1
19-13050370-G-A c.322G>A p.G108S Missense 3/9 - 1
19-13050370-G-T c.322G>T p.G108C Missense 3/9 - 1
19-13050369-CG-C c.323del p.G108Afs*3 Frameshift 3/9 - 1
19-13050371-G-A c.323G>A p.G108D Missense 3/9 - 2
19-13050373-TA-GC c.325_326delinsGC p.Y109A Missense 3/9 - 2
19-13050374-A-T c.326A>T p.Y109F Missense 3/9 - 2
19-13050376-G-A c.328G>A p.V110M Missense 3/9 - 2
19-13050376-GTG-TGT c.328_330delinsTGT p.V110C Missense 3/9 - 3
19-13050377-T-C c.329T>C p.V110A Missense 3/9 - 1
19-13050378-G-A c.330G>A p.V110= Synonymous 3/9 - 1
19-13050379-AA-GC c.331_332delinsGC p.K111A Missense 3/9 - 5
19-13050379-AA-GG c.331_332delinsGG p.K111G Missense 3/9 - 1
19-13050380-A-G c.332A>G p.K111R Missense 3/9 - 1
19-13050382-C-A c.334C>A p.L112M Missense 3/9 - 1
19-13050382-C-T c.334C>T p.L112= Synonymous 3/9 - 1
19-13050384-G-A c.336G>A p.L112= Synonymous 3/9 - 1
19-13050384-G-C c.336G>C p.L112= Synonymous 3/9 - 1
19-13050384-G-T c.336G>T p.L112= Synonymous 3/9 - 1
19-13050385-T-C c.337T>C p.F113L Missense 3/9 - 1
19-13050385-T-G c.337T>G p.F113V Missense 3/9 - 1
19-13050385-TT-GC c.337_338delinsGC p.F113A Missense 3/9 - 1
19-13050387-T-A c.339T>A p.F113L Missense 3/9 - 1
19-13050387-T-G c.339T>G p.F113L Missense 3/9 - 1
19-13050388-C-T c.340C>T p.P114S Missense 3/9 - 1
19-13050389-C-G c.341C>G p.P114R Missense 3/9 - 1
19-13050391-A-G c.343A>G p.N115D Missense 3/9 - 1
19-13050394-A-G c.346A>G p.S116G Missense 3/9 - 1
19-13050394-A-T c.346A>T p.S116C Missense 3/9 - 1
19-13050400-G-A c.352G>A p.D118N Missense 3/9 - 1
19-13050401-A-C c.353A>C p.D118A Missense 3/9 - 1
19-13050403-C-G c.355C>G p.Q119E Missense 3/9 - 1
19-13050403-C-T c.355C>T p.Q119* Nonsense 3/9 - 1
19-13050404-A-G c.356A>G p.Q119R Missense 3/9 - 1
19-13050405-G-T c.357G>T p.Q119H Missense 3/9 - 1
19-13050407-C-A c.359C>A p.T120K Missense 3/9 - 1
19-13050407-CA-AC c.359_360delinsAC p.T120N Missense 3/9 - 1
19-13050407-C-T c.359C>T p.T120I Missense 3/9 - 3
19-13050412-A-G c.364A>G p.M122V Missense 3/9 - 1
19-13050413-T-C c.365T>C p.M122T Missense 3/9 - 3
19-13050414-G-A c.366G>A p.M122I Missense 3/9 - 1
19-13050418-G-A c.370G>A p.G124R Missense 3/9 - 1
19-13050418-G-T c.370G>T p.G124* Nonsense 3/9 - 2
19-13050419-G-A c.371G>A p.G124E Missense 3/9 - 4
19-13050423-C-G c.375C>G p.D125E Missense 3/9 - 1
19-13050424-T-G c.376T>G p.S126A Missense 3/9 - 1
19-13050425-CA-GT c.377_378delinsGT p.S126C Missense 3/9 - 1
19-13050425-CA-TT c.377_378delinsTT p.S126F Missense 3/9 - 2
19-13050425-C-T c.377C>T p.S126L Missense 3/9 - 2
19-13050427-G-A c.379G>A p.E127K Missense 3/9 - 1
19-13050427-GAA-TGT c.379_381delinsTGT p.E127C Missense 3/9 - 1
19-13050427-G-C c.379G>C p.E127Q Missense 3/9 - 1
19-13050428-A-G c.380A>G p.E127G Missense 3/9 - 2
19-13050429-A-T c.381A>T p.E127D Missense 3/9 - 1
19-13050430-TA-GC c.382_383delinsGC p.Y128A Missense 3/9 - 3
19-13050430-T-C c.382T>C p.Y128H Missense 3/9 - 1
19-13050431-A-G c.383A>G p.Y128C Missense 3/9 - 4
19-13050431-A-T c.383A>T p.Y128F Missense 3/9 - 2
19-13050433-A-G c.385A>G p.N129D Missense 3/9 - 1
19-13050434-A-G c.386A>G p.N129S Missense 3/9 - 1
19-13050434-A-T c.386A>T p.N129I Missense 3/9 - 2
19-13050439-AT-GC c.391_392delinsGC p.M131A Missense 3/9 - 1
19-13050442-T-C c.394T>C p.F132L Missense 3/9 - 3
19-13050442-TT-CA c.394_395delinsCA p.F132H Missense 3/9 - 1
19-13050442-TT-GC c.394_395delinsGC p.F132A Missense 3/9 - 3
19-13050444-T-A c.396T>A p.F132L Missense 3/9 - 2
19-13050444-T-G c.396T>G p.F132L Missense 3/9 - 2
19-13050445-G-C c.397G>C p.G133R Missense 3/9 - 1
19-13050450-G-T c.397+5G>T - IntronicSNV - 3/8 1
19-13050526-AT-A c.397+89del - IntronicDeletion - 3/8 1
19-13050867-G-C c.398G>C p.G133A Missense 4/9 - 2
19-13050870-C-T c.401C>T p.P134L Missense 4/9 - 1
19-13050871-C-A c.402C>A p.P134= Synonymous 4/9 - 2
19-13050871-C-G c.402C>G p.P134= Synonymous 4/9 - 2
19-13050871-C-T c.402C>T p.P134= Synonymous 4/9 - 3
19-13050872-G-A c.403G>A p.D135N Missense 4/9 - 3
19-13050872-GA-CT c.403_404delinsCT p.D135L Missense 4/9 - 3
19-13050873-A-C c.404A>C p.D135A Missense 4/9 - 1
19-13050875-A-G c.406A>G p.I136V Missense 4/9 - 1
19-13050879-G-A c.410G>A p.C137Y Missense 4/9 - 1
19-13050880-T-C c.411T>C p.C137= Synonymous 4/9 - 2
19-13050881-G-A c.412G>A p.G138S Missense 4/9 - 3
19-13050887-G-A c.418G>A p.G140S Missense 4/9 - 5
19-13050887-G-C c.418G>C p.G140R Missense 4/9 - 1
19-13050888-G-A c.419G>A p.G140D Missense 4/9 - 1
19-13050888-G-C c.419G>C p.G140A Missense 4/9 - 4
19-13050890-A-T c.421A>T p.T141S Missense 4/9 - 2
19-13050891-C-G c.422C>G p.T141S Missense 4/9 - 1
19-13050891-C-T c.422C>T p.T141I Missense 4/9 - 1
19-13050893-AA-GG c.424_425delinsGG p.K142G Missense 4/9 - 1
19-13050894-A-G c.425A>G p.K142R Missense 4/9 - 1
19-13050895-G-A c.426G>A p.K142= Synonymous 4/9 - 1
19-13050895-G-GA c.428dup p.V144Gfs*23 Frameshift 4/9 - 1
19-13050897-A-G c.428A>G p.K143R Missense 4/9 - 1
19-13050898-G-T c.429G>T p.K143N Missense 4/9 - 1
19-13050899-G-A c.430G>A p.V144I Missense 4/9 - 1
19-13050901-T-A c.432T>A p.V144= Synonymous 4/9 - 1
19-13050901-T-C c.432T>C p.V144= Synonymous 4/9 - 1
19-13050901-T-G c.432T>G p.V144= Synonymous 4/9 - 1
19-13050902-CA-GC c.433_434delinsGC p.H145A Missense 4/9 - 1
19-13050902-C-T c.433C>T p.H145Y Missense 4/9 - 1
19-13050907-C-A c.438C>A p.V146= Synonymous 4/9 - 2
19-13050907-C-G c.438C>G p.V146= Synonymous 4/9 - 2
19-13050907-C-T c.438C>T p.V146= Synonymous 4/9 - 2
19-13050909-T-C c.440T>C p.I147T Missense 4/9 - 1
19-13050910-C-A c.441C>A p.I147= Synonymous 4/9 - 1
19-13050910-C-G c.441C>G p.I147M Missense 4/9 - 2
19-13050910-C-T c.441C>T p.I147= Synonymous 4/9 - 2
19-13050914-A-G c.445A>G p.N149D Missense 4/9 - 1
19-13050917-TAC-AAG c.448_450delinsAAG p.Y150K Missense 4/9 - 1
19-13050917-T-C c.448T>C p.Y150H Missense 4/9 - 1
19-13050920-A-C c.451A>C p.K151Q Missense 4/9 - 1
19-13050920-A-G c.451A>G p.K151E Missense 4/9 - 1
19-13050921-A-G c.452A>G p.K151R Missense 4/9 - 1
19-13050922-G-A c.453G>A p.K151= Synonymous 4/9 - 1
19-13050923-G-C c.454G>C p.G152R Missense 4/9 - 1
19-13050927-A-G c.458A>G p.K153R Missense 4/9 - 1
19-13050928-G-T c.459G>T p.K153N Missense 4/9 - 1
19-13050929-A-G c.460A>G p.N154D Missense 4/9 - 1
19-13050930-A-G c.461A>G p.N154S Missense 4/9 - 1
19-13050931-C-T c.462C>T p.N154= Synonymous 4/9 - 3
19-13050932-G-A c.463G>A p.V155M Missense 4/9 - 2
19-13050939-T-C c.470T>C p.I157T Missense 4/9 - 1
19-13050941-A-G c.472A>G p.N158D Missense 4/9 - 1
19-13050942-A-G c.473A>G p.N158S Missense 4/9 - 1
19-13050944-AA-GC c.475_476delinsGC p.K159A Missense 4/9 - 3
19-13050946-G-A c.477G>A p.K159= Synonymous 4/9 - 1
19-13050948-A-C c.479A>C p.D160A Missense 4/9 - 2
19-13050948-A-G c.479A>G p.D160G Missense 4/9 - 2
19-13050950-A-T c.481A>T p.I161F Missense 4/9 - 1
19-13050950-ATC-TAA c.481_483delinsTAA p.I161* Nonsense 4/9 - 1
19-13050953-CG-GC c.484_485delinsGC p.R162A Missense 4/9 - 1
19-13050953-CGT-GAG c.484_486delinsGAG p.R162E Missense 4/9 - 1
19-13050953-C-T c.484C>T p.R162C Missense 4/9 - 2
19-13050954-G-A c.485G>A p.R162H Missense 4/9 - 1
19-13050956-T-A c.487T>A p.C163S Missense 4/9 - 1
19-13050956-TGC-CAA c.487_489delinsCAA p.C163Q Missense 4/9 - 1
19-13050956-TG-GC c.487_488delinsGC p.C163A Missense 4/9 - 4
19-13050957-G-C c.488G>C p.C163S Missense 4/9 - 1
19-13050958-C-G c.489C>G p.C163W Missense 4/9 - 1
19-13050959-A-G c.490A>G p.K164E Missense 4/9 - 1
19-13050960-A-C c.491A>C p.K164T Missense 4/9 - 1
19-13050960-A-G c.491A>G p.K164R Missense 4/9 - 1
19-13050961-G-A c.492G>A p.K164= Synonymous 4/9 - 1
19-13050966-G-T c.492+5G>T - IntronicSNV - 4/8 1
19-13051057-GAT-AAG c.493_495delinsAAG p.D165K Missense 5/9 - 1
19-13051057-GA-TG c.493_494delinsTG p.D165C Missense 5/9 - 1
19-13051058-A-G c.494A>G p.D165G Missense 5/9 - 7
19-13051060-GAT-AAG c.496_498delinsAAG p.D166K Missense 5/9 - 1
19-13051063-G-A c.499G>A p.E167K Missense 5/9 - 1
19-13051066-T-A c.502T>A p.F168I Missense 5/9 - 1
19-13051072-C-A c.508C>A p.H170N Missense 5/9 - 1
19-13051072-CA-GC c.508_509delinsGC p.H170A Missense 5/9 - 3
19-13051072-C-T c.508C>T p.H170Y Missense 5/9 - 1
19-13051073-A-G c.509A>G p.H170R Missense 5/9 - 2
19-13051075-C-A c.511C>A p.L171M Missense 5/9 - 1
19-13051076-T-C c.512T>C p.L171P Missense 5/9 - 2
19-13051078-TA-GC c.514_515delinsGC p.Y172A Missense 5/9 - 1
19-13051078-T-C c.514T>C p.Y172H Missense 5/9 - 1
19-13051080-C-G c.516C>G p.Y172* Nonsense 5/9 - 1
19-13051080-C-CA c.517dup p.T173Nfs*11 Frameshift 5/9 - 2
19-13051081-ACA-TGT c.517_519inv p.T173C Missense 5/9 - 1
19-13051082-CA-TG c.518_519inv p.T173M Missense 5/9 - 1
19-13051082-C-T c.518C>T p.T173I Missense 5/9 - 1
19-13051084-C-T c.520C>T p.L174= Synonymous 5/9 - 1
19-13051086-G-A c.522G>A p.L174= Synonymous 5/9 - 1
19-13051086-G-C c.522G>C p.L174= Synonymous 5/9 - 1
19-13051086-G-T c.522G>T p.L174= Synonymous 5/9 - 1
19-13051088-T-G c.524T>G p.I175S Missense 5/9 - 3
19-13051090-G-A c.526G>A p.V176M Missense 5/9 - 2
19-13051093-CG-GC c.529_530delinsGC p.R177A Missense 5/9 - 1
19-13051093-CG-TA c.529_530delinsTA p.R177* Nonsense 5/9 - 2
19-13051093-C-T c.529C>T p.R177W Missense 5/9 - 3
19-13051094-G-A c.530G>A p.R177Q Missense 5/9 - 4
19-13051096-C-A c.532C>A p.P178T Missense 5/9 - 1
19-13051096-C-T c.532C>T p.P178S Missense 5/9 - 1
19-13051097-C-T c.533C>T p.P178L Missense 5/9 - 2
19-13051099-G-A c.535G>A p.D179N Missense 5/9 - 2
19-13051100-A-C c.536A>C p.D179A Missense 5/9 - 1
19-13051100-A-G c.536A>G p.D179G Missense 5/9 - 2
19-13051104-C-A c.540C>A p.N180K Missense 5/9 - 1
19-13051105-AC-GG c.541_542delinsGG p.T181G Missense 5/9 - 1
19-13051105-A-AC c.543dup p.Y182Lfs*2 Frameshift 5/9 - 1
19-13051111-GA-CT c.547_548delinsCT p.E183L Missense 5/9 - 2
19-13051114-G-A c.550G>A p.V184M Missense 5/9 - 1
19-13051117-A-G c.553A>G p.K185E Missense 5/9 - 1
19-13051119-G-A c.555G>A p.K185= Synonymous 5/9 - 1
19-13051121-T-C c.557T>C p.I186T Missense 5/9 - 2
19-13051121-TT-AG c.557_558delinsAG p.I186K Missense 5/9 - 1
19-13051120-AT-A c.558del p.I186Mfs*23 Frameshift 5/9 - 1
19-13051123-G-A c.559G>A p.D187N Missense 5/9 - 2
19-13051126-A-G c.562A>G p.N188D Missense 5/9 - 3
19-13051127-A-G c.563A>G p.N188S Missense 5/9 - 1
19-13051129-AG-TT c.565_566delinsTT p.S189F Missense 5/9 - 1
19-13051130-G-A c.566G>A p.S189N Missense 5/9 - 4
19-13051130-G-C c.566G>C p.S189T Missense 5/9 - 6
19-13051132-C-G c.568C>G p.Q190E Missense 5/9 - 1
19-13051135-G-A c.571G>A p.V191M Missense 5/9 - 1
19-13051136-T-A c.572T>A p.V191E Missense 5/9 - 1
19-13051138-G-T c.574G>T p.E192* Nonsense 5/9 - 1
19-13051141-TC-GA c.577_578inv p.S193D Missense 5/9 - 2
19-13051142-C-G c.578C>G p.S193C Missense 5/9 - 1
19-13051142-C-T c.578C>T p.S193F Missense 5/9 - 1
19-13051143-C-A c.579C>A p.S193= Synonymous 5/9 - 1
19-13051143-C-G c.579C>G p.S193= Synonymous 5/9 - 1
19-13051143-C-T c.579C>T p.S193= Synonymous 5/9 - 1
19-13051148-C-T c.584C>T p.S195F Missense 5/9 - 3
19-13051149-C-A c.585C>A p.S195= Synonymous 5/9 - 1
19-13051149-C-G c.585C>G p.S195= Synonymous 5/9 - 1
19-13051149-C-T c.585C>T p.S195= Synonymous 5/9 - 1
19-13051150-T-G c.586T>G p.L196V Missense 5/9 - 1
19-13051152-G-C c.588G>C p.L196F Missense 5/9 - 1
19-13051152-G-T c.588G>T p.L196F Missense 5/9 - 1
19-13051153-G-A c.589G>A p.E197K Missense 5/9 - 1
19-13051158-C-T c.594C>T p.D198= Synonymous 5/9 - 1
19-13051159-G-A c.595G>A p.D199N Missense 5/9 - 3
19-13051159-G-T c.595G>T p.D199Y Missense 5/9 - 1
19-13051160-A-G c.596A>G p.D199G Missense 5/9 - 2
19-13051162-TG-CC c.598_599delinsCC p.W200P Missense 5/9 - 2
19-13051162-TG-GC c.598_599delinsGC p.W200A Missense 5/9 - 1
19-13051163-G-T c.599G>T p.W200L Missense 5/9 - 1
19-13051165-G-A c.601G>A p.D201N Missense 5/9 - 1
19-13051166-A-C c.602A>C p.D201A Missense 5/9 - 1
19-13051166-A-G c.602A>G p.D201G Missense 5/9 - 1
19-13051168-T-C c.604T>C p.F202L Missense 5/9 - 1
19-13051170-C-G c.606C>G p.F202L Missense 5/9 - 1
19-13051169-T-A c.605T>A p.F202Y Missense 5/9 - 1
19-13051170-C-A c.606C>A p.F202L Missense 5/9 - 2
19-13051170-C-T c.606C>T p.F202= Synonymous 5/9 - 2
19-13051171-C-T c.607C>T p.L203= Synonymous 5/9 - 3
19-13051173-G-A c.609G>A p.L203= Synonymous 5/9 - 3
19-13051173-G-C c.609G>C p.L203= Synonymous 5/9 - 3
19-13051173-G-T c.609G>T p.L203= Synonymous 5/9 - 4
19-13051174-CCA-GAC c.610_612delinsGAC p.P204D Missense 5/9 - 1
19-13051174-C-T c.610C>T p.P204S Missense 5/9 - 2
19-13051177-C-A c.613C>A p.P205T Missense 5/9 - 1
19-13051178-C-T c.614C>T p.P205L Missense 5/9 - 2
19-13051180-AA-GC c.616_617delinsGC p.K206A Missense 5/9 - 1
19-13051180-A-G c.616A>G p.K206E Missense 5/9 - 1
19-13051184-A-T c.620A>T p.K207M Missense 5/9 - 1
19-13051185-G-A c.621G>A p.K207= Synonymous 5/9 - 1
19-13051186-A-C c.622A>C p.I208L Missense 5/9 - 1
19-13051186-A-T c.622A>T p.I208L Missense 5/9 - 1
19-13051187-T-G c.623T>G p.I208R Missense 5/9 - 1
19-13051189-A-C c.625A>C p.K209Q Missense 5/9 - 2
19-13051190-A-C c.626A>C p.K209T Missense 5/9 - 1
19-13051191-G-A c.627G>A p.K209= Synonymous 5/9 - 1
19-13051192-G-A c.628G>A p.D210N Missense 5/9 - 3
19-13051192-GA-CG c.628_629delinsCG p.D210R Missense 5/9 - 1
19-13051193-A-C c.629A>C p.D210A Missense 5/9 - 3
19-13051195-CC-GA c.631_632delinsGA p.P211D Missense 5/9 - 1
19-13051195-CC-TG c.631_632delinsTG p.P211C Missense 5/9 - 1
19-13051196-C-T c.632C>T p.P211L Missense 5/9 - 1
19-13051196-CT-AA c.632_633delinsAA p.P211Q Missense 5/9 - 1
19-13051198-G-A c.634G>A p.D212N Missense 5/9 - 1
19-13051198-GA-AT c.634_635delinsAT p.D212I Missense 5/9 - 1
19-13051201-G-A c.637G>A p.A213T Missense 5/9 - 1
19-13051204-T-A c.640T>A p.S214T Missense 5/9 - 1
19-13051204-T-C c.640T>C p.S214P Missense 5/9 - 2
19-13051205-C-T c.641C>T p.S214L Missense 5/9 - 2
19-13051206-A-C c.642A>C p.S214= Synonymous 5/9 - 1
19-13051206-A-G c.642A>G p.S214= Synonymous 5/9 - 1
19-13051206-A-T c.642A>T p.S214= Synonymous 5/9 - 1
19-13051207-AA-GC c.643_644delinsGC p.K215A Missense 5/9 - 1
19-13051207-A-G c.643A>G p.K215E Missense 5/9 - 1
19-13051209-A-G c.645A>G p.K215= Synonymous 5/9 - 1
19-13051211-C-T c.647C>T p.P216L Missense 5/9 - 2
19-13051212-G-A c.648G>A p.P216= Synonymous 5/9 - 1
19-13051212-G-C c.648G>C p.P216= Synonymous 5/9 - 1
19-13051212-G-T c.648G>T p.P216= Synonymous 5/9 - 1
19-13051213-GA-AG c.649_650delinsAG p.E217R Missense 5/9 - 1
19-13051214-A-C c.650A>C p.E217A Missense 5/9 - 3
19-13051215-A-AT c.651_652insT p.D218* Nonsense 5/9 - 1
19-13051216-G-A c.652G>A p.D218N Missense 5/9 - 2
19-13051218-C-A c.654C>A p.D218E Missense 5/9 - 1
19-13051218-C-G c.654C>G p.D218E Missense 5/9 - 1
19-13051222-G-A c.658G>A p.D220N Missense 5/9 - 2
19-13051223-A-C c.659A>C p.D220A Missense 5/9 - 2
19-13051227-G-C c.663G>C p.E221D Missense 5/9 - 3
19-13051227-G-T c.663G>T p.E221D Missense 5/9 - 4
19-13051229-G-A c.665G>A p.R222Q Missense 5/9 - 5
19-13051231-G-A c.667G>A p.A223T Missense 5/9 - 3
19-13051234-A-G c.670A>G p.K224E Missense 5/9 - 1
19-13051235-A-G c.671A>G p.K224R Missense 5/9 - 1
19-13051239-C-A c.675C>A p.I225= Synonymous 5/9 - 1
19-13051239-C-T c.675C>T p.I225= Synonymous 5/9 - 3
19-13051243-GAT-AAG c.679_681delinsAAG p.D227K Missense 5/9 - 1
19-13051244-A-G c.680A>G p.D227G Missense 5/9 - 1
19-13051246-C-A c.682C>A p.P228T Missense 5/9 - 1
19-13051246-C-T c.682C>T p.P228S Missense 5/9 - 7
19-13051249-A-AG c.685_686insG p.T229Sfs*6 Frameshift 5/9 - 1
19-13051260-G-A c.696G>A p.K232= Synonymous 5/9 - 3
19-13051262-C-T c.698C>T p.P233L Missense 5/9 - 1
19-13051262-C-CT c.699dup p.E234* Nonsense 5/9 - 1
19-13051263-T-TG c.700dup p.E234Gfs*11 SpliceDonorInsertion 5/9 - 1
19-13051264-G-A c.700G>A p.E234K Missense 5/9 - 5
19-13051264-GA-AG c.700_701delinsAG p.E234R Missense 5/9 - 1
19-13051263-TGA-T c.701_702del p.E234Gfs*10 SpliceDonorDeletion 5/9 - 2
19-13051265-A-G c.701A>G p.E234G Missense 5/9 - 1
19-13051266-G-A c.702G>A p.E234= Synonymous 5/9 - 1
19-13051266-G-C c.702G>C p.E234D Missense 5/9 - 1
19-13051266-G-T c.702G>T p.E234D Missense 5/9 - 1
19-13051267-G-A c.702+1G>A - IntronicSNV - 5/8 1
19-13051269-T-C c.702+3T>C - IntronicSNV - 5/8 1
19-13051336-C-T c.703-19C>T - IntronicSNV - 5/8 1
19-13051342-A-C c.703-13A>C - IntronicSNV - 5/8 1
19-13051342-A-G c.703-13A>G - IntronicSNV - 5/8 1
19-13051355-G-A c.703G>A p.D235N Missense 6/9 - 1
19-13051355-GA-CG c.703_704delinsCG p.D235R Missense 6/9 - 1
19-13051356-A-C c.704A>C p.D235A Missense 6/9 - 2
19-13051361-G-A c.709G>A p.D237N Missense 6/9 - 1
19-13051365-A-C c.713A>C p.K238T Missense 6/9 - 4
19-13051365-A-G c.713A>G p.K238R Missense 6/9 - 1
19-13051366-G-A c.714G>A p.K238= Synonymous 6/9 - 2
19-13051366-G-C c.714G>C p.K238N Missense 6/9 - 1
19-13051366-G-T c.714G>T p.K238N Missense 6/9 - 1
19-13051367-C-T c.715C>T p.P239S Missense 6/9 - 1
19-13051368-C-T c.716C>T p.P239L Missense 6/9 - 2
19-13051370-CGAG-C c.718_720del p.E240del InFrameDeletion 6/9 - 1
19-13051370-G-T c.718G>T p.E240* Nonsense 6/9 - 1
19-13051372-G-C c.720G>C p.E240D Missense 6/9 - 2
19-13051372-G-T c.720G>T p.E240D Missense 6/9 - 3
19-13051373-C-A c.721C>A p.H241N Missense 6/9 - 1
19-13051375-T-C c.723T>C p.H241= Synonymous 6/9 - 1
19-13051378-C-T c.726C>T p.I242= Synonymous 6/9 - 1
19-13051380-C-T c.728C>T p.P243L Missense 6/9 - 2
19-13051383-A-G c.731A>G p.D244G Missense 6/9 - 3
19-13051384-C-A c.732C>A p.D244E Missense 6/9 - 1
19-13051384-C-G c.732C>G p.D244E Missense 6/9 - 1
19-13051385-C-A c.733C>A p.P245T Missense 6/9 - 1
19-13051385-CCCT-C c.733_735del p.P245del InFrameDeletion 6/9 - 1
19-13051386-C-T c.734C>T p.P245L Missense 6/9 - 2
19-13051388-G-A c.736G>A p.D246N Missense 6/9 - 1
19-13051390-T-A c.738T>A p.D246E Missense 6/9 - 1
19-13051390-T-G c.738T>G p.D246E Missense 6/9 - 1
19-13051391-G-A c.739G>A p.A247T Missense 6/9 - 1
19-13051394-A-G c.742A>G p.K248E Missense 6/9 - 1
19-13051397-AA-CT c.745_746delinsCT p.K249L Missense 6/9 - 1
19-13051397-AA-GC c.745_746delinsGC p.K249A Missense 6/9 - 1
19-13051398-AG-TC c.746_747delinsTC p.K249I Missense 6/9 - 1
19-13051399-G-A c.747G>A p.K249= Synonymous 6/9 - 1
19-13051401-C-T c.749C>T p.P250L Missense 6/9 - 2
19-13051402-C-A c.750C>A p.P250= Synonymous 6/9 - 2
19-13051402-C-G c.750C>G p.P250= Synonymous 6/9 - 3
19-13051402-C-T c.750C>T p.P250= Synonymous 6/9 - 3
19-13051403-G-A c.751G>A p.E251K Missense 6/9 - 1
19-13051405-G-T c.753G>T p.E251D Missense 6/9 - 1
19-13051406-G-A c.754G>A p.D252N Missense 6/9 - 1
19-13051406-GAC-CAA c.754_756delinsCAA p.D252Q Missense 6/9 - 1
19-13051406-G-T c.754G>T p.D252Y Missense 6/9 - 1
19-13051407-A-C c.755A>C p.D252A Missense 6/9 - 1
19-13051407-A-G c.755A>G p.D252G Missense 6/9 - 1
19-13051407-A-T c.755A>T p.D252V Missense 6/9 - 1
19-13051410-G-A c.758G>A p.W253* Nonsense 6/9 - 2
19-13051410-G-T c.758G>T p.W253L Missense 6/9 - 1
19-13051411-G-A c.759G>A p.W253* Nonsense 6/9 - 1
19-13051415-G-A c.763G>A p.E255K Missense 6/9 - 5
19-13051418-G-C c.766G>C p.E256Q Missense 6/9 - 1
19-13051419-A-C c.767A>C p.E256A Missense 6/9 - 1
19-13051421-A-C c.769A>C p.M257L Missense 6/9 - 1
19-13051421-A-G c.769A>G p.M257V Missense 6/9 - 1
19-13051424-G-A c.772G>A p.D258N Missense 6/9 - 2
19-13051426-C-T c.774C>T p.D258= Synonymous 6/9 - 2
19-13051436-G-A c.784G>A p.E262K Missense 6/9 - 2
19-13051439-C-A c.787C>A p.P263T Missense 6/9 - 1
19-13051439-C-G c.787C>G p.P263A Missense 6/9 - 1
19-13051439-C-T c.787C>T p.P263S Missense 6/9 - 1
19-13051441-C-T c.789C>T p.P263= Synonymous 6/9 - 1
19-13051442-C-T c.790C>T p.P264S Missense 6/9 - 4
19-13051438-AC-A c.791del p.P264Qfs*2 Frameshift 6/9 - 3
19-13051443-C-G c.791C>G p.P264R Missense 6/9 - 1
19-13051443-C-T c.791C>T p.P264L Missense 6/9 - 1
19-13051444-A-G c.792A>G p.P264= Synonymous 6/9 - 1
19-13051452-A-G c.800A>G p.Q267R Missense 6/9 - 1
19-13051453-G-A c.801G>A p.Q267= Synonymous 6/9 - 1
19-13051454-AAC-CAA c.802_804delinsCAA p.N268Q Missense 6/9 - 1
19-13051454-A-T c.802A>T p.N268Y Missense 6/9 - 1
19-13051456-C-T c.804C>T p.N268= Synonymous 6/9 - 1
19-13051457-C-A c.805C>A p.P269T Missense 6/9 - 1
19-13051460-G-A c.808G>A p.E270K Missense 6/9 - 1
19-13051461-A-C c.809A>C p.E270A Missense 6/9 - 1
19-13051462-G-A c.810G>A p.E270= Synonymous 6/9 - 2
19-13051462-G-C c.810G>C p.E270D Missense 6/9 - 1
19-13051462-G-T c.810G>T p.E270D Missense 6/9 - 1
19-13051464-A-G c.812A>G p.Y271C Missense 6/9 - 2
19-13051464-A-T c.812A>T p.Y271F Missense 6/9 - 1
19-13051467-AAG-A c.815_816del p.K272Rfs*2 SpliceDonorDeletion 6/9 - 1
19-13051468-G-C c.816G>C p.K272N Missense 6/9 - 1
19-13051468-G-T c.816G>T p.K272N Missense 6/9 - 1
19-13051469-G-A c.816+1G>A - IntronicSNV - 6/8 1
19-13051500-T-C c.816+32T>C - IntronicSNV - 6/8 1
19-13051535-C-T c.817-23C>T - IntronicSNV - 6/8 1
19-13051549-C-T c.817-9C>T - IntronicSNV - 6/8 1
19-13051561-G-A c.820G>A p.E274K Missense 7/9 - 1
19-13051562-A-T c.821A>T p.E274V Missense 7/9 - 1
19-13051568-A-G c.827A>G p.K276R Missense 7/9 - 1
19-13051569-G-A c.828G>A p.K276= Synonymous 7/9 - 1
19-13051570-C-T c.829C>T p.P277S Missense 7/9 - 1
19-13051573-C-T c.832C>T p.R278W Missense 7/9 - 1
19-13051574-G-A c.833G>A p.R278Q Missense 7/9 - 1
19-13051577-A-G c.836A>G p.Q279R Missense 7/9 - 1
19-13051578-G-T c.837G>T p.Q279H Missense 7/9 - 1
19-13051579-A-G c.838A>G p.I280V Missense 7/9 - 2
19-13051580-T-C c.839T>C p.I280T Missense 7/9 - 2
19-13051581-C-T c.840C>T p.I280= Synonymous 7/9 - 1
19-13051591-G-A c.850G>A p.D284N Missense 7/9 - 1
19-13051591-G-T c.850G>T p.D284Y Missense 7/9 - 1
19-13051597-AA-GC c.856_857delinsGC p.K286A Missense 7/9 - 2
19-13051597-A-C c.856A>C p.K286Q Missense 7/9 - 1
19-13051597-A-G c.856A>G p.K286E Missense 7/9 - 1
19-13051595-ACAAGGG-A c.857_862del p.K286_G287del InFrameDeletion 7/9 - 1
19-13051598-A-G c.857A>G p.K286R Missense 7/9 - 1
19-13051601-G-A c.860G>A p.G287D Missense 7/9 - 2
19-13051601-G-C c.860G>C p.G287A Missense 7/9 - 1
19-13051601-G-T c.860G>T p.G287V Missense 7/9 - 1
19-13051602-C-T c.861C>T p.G287= Synonymous 7/9 - 1
19-13051603-A-G c.862A>G p.T288A Missense 7/9 - 1
19-13051612-CA-GC c.871_872delinsGC p.H291A Missense 7/9 - 1
19-13051612-C-T c.871C>T p.H291Y Missense 7/9 - 1
19-13051614-C-A c.873C>A p.H291Q Missense 7/9 - 1
19-13051614-C-G c.873C>G p.H291Q Missense 7/9 - 1
19-13051616-C-T c.875C>T p.P292L Missense 7/9 - 1
19-13051618-G-A c.877G>A p.E293K Missense 7/9 - 2
19-13051624-G-A c.883G>A p.D295N Missense 7/9 - 1
19-13051626-C-G c.885C>G p.D295E Missense 7/9 - 1
19-13051627-AAC-CAA c.886_888delinsCAA p.N296Q Missense 7/9 - 1
19-13051630-CC-TG c.889_890delinsTG p.P297C Missense 7/9 - 1
19-13051631-C-A c.890C>A p.P297H Missense 7/9 - 1
19-13051631-C-T c.890C>T p.P297L Missense 7/9 - 2
19-13051633-G-A c.892G>A p.E298K Missense 7/9 - 2
19-13051633-GAG-TAT c.892_894delinsTAT p.E298Y Missense 7/9 - 1
19-13051633-G-T c.892G>T p.E298* Nonsense 7/9 - 5
19-13051635-G-A c.894G>A p.E298= Synonymous 7/9 - 1
19-13051635-G-C c.894G>C p.E298D Missense 7/9 - 7
19-13051635-G-T c.894G>T p.E298D Missense 7/9 - 9
19-13051636-T-A c.895T>A p.Y299N Missense 7/9 - 1
19-13051640-C-A c.899C>A p.S300Y Missense 7/9 - 4
19-13051640-C-G c.899C>G p.S300C Missense 7/9 - 1
19-13051642-C-T c.901C>T p.P301S Missense 7/9 - 11
19-13051643-C-A c.902C>A p.P301H Missense 7/9 - 2
19-13051643-C-T c.902C>T p.P301L Missense 7/9 - 16
19-13051645-G-A c.904G>A p.D302N Missense 7/9 - 8
19-13051645-G-C c.904G>C p.D302H Missense 7/9 - 2
19-13051649-C-G c.908C>G p.P303R Missense 7/9 - 1
19-13051649-C-T c.908C>T p.P303L Missense 7/9 - 1
19-13051654-A-G c.913A>G p.I305V Missense 7/9 - 2
19-13051657-TAT-ATG c.916_918delinsATG p.Y306M Missense 7/9 - 1
19-13051657-T-C c.916T>C p.Y306H Missense 7/9 - 1
19-13051661-C-T c.920C>T p.A307V Missense 7/9 - 1
19-13051663-TAT-CAA c.922_924delinsCAA p.Y308Q Missense 7/9 - 1
19-13051663-T-G c.922T>G p.Y308D Missense 7/9 - 1
19-13051666-G-A c.925G>A p.D309N Missense 7/9 - 1
19-13051666-G-T c.925G>T p.D309Y Missense 7/9 - 5
19-13051667-A-G c.926A>G p.D309G Missense 7/9 - 1
19-13051671-C-G c.930C>G p.N310K Missense 7/9 - 1
19-13051672-T-A c.931T>A p.F311I Missense 7/9 - 1
19-13051675-G-GT c.934_935insT p.G312Vfs*17 Frameshift 7/9 - 1
19-13051676-G-C c.935G>C p.G312A Missense 7/9 - 1
19-13051678-G-A c.937G>A p.V313M Missense 7/9 - 2
19-13051684-G-C c.943G>C p.G315R Missense 7/9 - 1
19-13051685-G-A c.944G>A p.G315D Missense 7/9 - 1
19-13051685-G-C c.944G>C p.G315A Missense 7/9 - 1
19-13051687-C-CGGA c.946_947insGGA p.L316delinsRM MultiAAMissense 7/9 - 1
19-13051690-G-A c.949G>A p.D317N Missense 7/9 - 1
19-13051691-A-C c.950A>C p.D317A Missense 7/9 - 3
19-13051691-A-G c.950A>G p.D317G Missense 7/9 - 1
19-13051693-C-G c.952C>G p.L318V Missense 7/9 - 3
19-13051696-T-A c.955T>A p.W319R Missense 7/9 - 1
19-13051696-T-C c.955T>C p.W319R Missense 7/9 - 1
19-13051696-TGG-ATC c.955_957delinsATC p.W319I Missense 7/9 - 1
19-13051696-TG-GC c.955_956delinsGC p.W319A Missense 7/9 - 1
19-13051699-C-A c.958C>A p.Q320K Missense 7/9 - 1
19-13051701-G-A c.960G>A p.Q320= Synonymous 7/9 - 1
19-13051779-A-G c.960+78A>G - IntronicSNV - 7/8 1
19-13054308-T-G c.961-43T>G - IntronicSNV - 7/8 1
19-13054351-G-A c.961G>A p.V321I Missense 8/9 - 3
19-13054352-T-C c.962T>C p.V321A Missense 8/9 - 1
19-13054354-A-G c.964A>G p.K322E Missense 8/9 - 2
19-13054355-A-T c.965A>T p.K322M Missense 8/9 - 1
19-13054357-T-G c.967T>G p.S323A Missense 8/9 - 1
19-13054358-C-T c.968C>T p.S323F Missense 8/9 - 4
19-13054362-C-T c.972C>T p.G324= Synonymous 8/9 - 1
19-13054363-AC-GG c.973_974delinsGG p.T325G Missense 8/9 - 1
19-13054364-C-T c.974C>T p.T325I Missense 8/9 - 1
19-13054366-A-G c.976A>G p.I326V Missense 8/9 - 1
19-13054368-C-A c.978C>A p.I326= Synonymous 8/9 - 1
19-13054368-C-T c.978C>T p.I326= Synonymous 8/9 - 2
19-13054378-TTCC-T c.991_993del p.L331del InFrameDeletion 8/9 - 1
19-13054380-CCT-C c.992_993del p.L331Hfs*5 Frameshift 8/9 - 1
19-13054384-A-G c.994A>G p.I332V Missense 8/9 - 1
19-13054384-ATC-GAG c.994_996delinsGAG p.I332E Missense 8/9 - 1
19-13054386-C-T c.996C>T p.I332= Synonymous 8/9 - 1
19-13054388-C-A c.998C>A p.T333N Missense 8/9 - 1
19-13054390-A-G c.1000A>G p.N334D Missense 8/9 - 1
19-13054392-ACG-A c.1002_1003del p.N334Kfs*2 Frameshift 8/9 - 1
19-13054392-C-T c.1002C>T p.N334= Synonymous 8/9 - 1
19-13054393-G-A c.1003G>A p.D335N Missense 8/9 - 10
19-13054393-G-C c.1003G>C p.D335H Missense 8/9 - 3
19-13054393-G-T c.1003G>T p.D335Y Missense 8/9 - 1
19-13054394-A-C c.1004A>C p.D335A Missense 8/9 - 1
19-13054395-T-A c.1005T>A p.D335E Missense 8/9 - 1
19-13054395-T-G c.1005T>G p.D335E Missense 8/9 - 1
19-13054396-G-A c.1006G>A p.E336K Missense 8/9 - 1
19-13054398-G-T c.1008G>T p.E336D Missense 8/9 - 1
19-13054400-C-T c.1010C>T p.A337V Missense 8/9 - 1
19-13054401-A-C c.1011A>C p.A337= Synonymous 8/9 - 1
19-13054401-A-G c.1011A>G p.A337= Synonymous 8/9 - 1
19-13054401-A-T c.1011A>T p.A337= Synonymous 8/9 - 1
19-13054408-G-A c.1018G>A p.E340K Missense 8/9 - 1
19-13054408-G-C c.1018G>C p.E340Q Missense 8/9 - 1
19-13054409-A-C c.1019A>C p.E340A Missense 8/9 - 1
19-13054410-G-C c.1020G>C p.E340D Missense 8/9 - 1
19-13054411-G-A c.1021G>A p.E341K Missense 8/9 - 2
19-13054411-GA-TC c.1021_1022inv p.E341S Missense 8/9 - 1
19-13054412-A-G c.1022A>G p.E341G Missense 8/9 - 2
19-13054413-G-A c.1023G>A p.E341= Synonymous 8/9 - 2
19-13054418-G-A c.1028G>A p.G343D Missense 8/9 - 3
19-13054418-G-C c.1028G>C p.G343A Missense 8/9 - 1
19-13054418-GC-AG c.1028_1029delinsAG p.G343E Missense 8/9 - 1
19-13054420-A-T c.1030A>T p.N344Y Missense 8/9 - 1
19-13054421-A-G c.1031A>G p.N344S Missense 8/9 - 2
19-13054423-G-A c.1033G>A p.E345K Missense 8/9 - 3
19-13054424-A-C c.1034A>C p.E345A Missense 8/9 - 1
19-13054425-G-A c.1035G>A p.E345= Synonymous 8/9 - 1
19-13054427-C-T c.1037C>T p.T346M Missense 8/9 - 2
19-13054428-G-A c.1038G>A p.T346= Synonymous 8/9 - 1
19-13054432-G-A c.1042G>A p.G348S Missense 8/9 - 1
19-13054432-G-C c.1042G>C p.G348R Missense 8/9 - 1
19-13054433-G-C c.1043G>C p.G348A Missense 8/9 - 1
19-13054434-C-A c.1044C>A p.G348= Synonymous 8/9 - 1
19-13054434-C-G c.1044C>G p.G348= Synonymous 8/9 - 1
19-13054434-C-T c.1044C>T p.G348= Synonymous 8/9 - 2
19-13054436-T-C c.1046T>C p.V349A Missense 8/9 - 1
19-13054438-AC-GG c.1048_1049delinsGG p.T350G Missense 8/9 - 1
19-13054446-G-A c.1053+3G>A - IntronicSNV - 8/8 1
19-13054527-G-A c.1054G>A p.A352T Missense 9/9 - 1
19-13054528-C-T c.1055C>T p.A352V Missense 9/9 - 1
19-13054528-GC-G c.1055del p.A352Efs*6 Frameshift 9/9 - 1
19-13054530-G-A c.1057G>A p.A353T Missense 9/9 - 1
19-13054526-GGCA-G c.1058_1060del p.A353del InFrameDeletion 9/9 - 2
19-13054531-C-A c.1058C>A p.A353E Missense 9/9 - 1
19-13054535-G-C c.1062G>C p.E354D Missense 9/9 - 1
19-13054535-G-T c.1062G>T p.E354D Missense 9/9 - 1
19-13054536-A-G c.1063A>G p.K355E Missense 9/9 - 1
19-13054538-A-G c.1065A>G p.K355= Synonymous 9/9 - 1
19-13054539-C-A c.1066C>A p.Q356K Missense 9/9 - 1
19-13054541-A-G c.1068A>G p.Q356= Synonymous 9/9 - 1
19-13054544-GA-G c.1073del p.K358Rfs*72 Frameshift 9/9 - 1
19-13054548-G-A c.1075G>A p.D359N Missense 9/9 - 3
19-13054548-GGAC-G c.1075_1077del p.D359del InFrameDeletion 9/9 - 1
19-13054549-A-T c.1076A>T p.D359V Missense 9/9 - 1
19-13054550-C-A c.1077C>A p.D359E Missense 9/9 - 1
19-13054550-C-G c.1077C>G p.D359E Missense 9/9 - 1
19-13054550-C-T c.1077C>T p.D359= Synonymous 9/9 - 1
19-13054551-A-G c.1078A>G p.K360E Missense 9/9 - 1
19-13054553-AACAGGACGAGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGG-A c.1081_1139del p.Q361Gfs*8 Frameshift 9/9 - 1
19-13054553-A-G c.1080A>G p.K360= Synonymous 9/9 - 1
19-13054554-C-T c.1081C>T p.Q361* Nonsense 9/9 - 1
19-13054556-G-A c.1083G>A p.Q361= Synonymous 9/9 - 1
19-13054557-G-A c.1084G>A p.D362N Missense 9/9 - 1
19-13054558-A-G c.1085A>G p.D362G Missense 9/9 - 1
19-13054559-ACGAGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGG-A c.1087_1145del p.E363Rfs*6 InFrameDeletion 9/9 - 1
19-13054559-C-G c.1086C>G p.D362E Missense 9/9 - 1
19-13054559-C-T c.1086C>T p.D362= Synonymous 9/9 - 1
19-13054560-G-A c.1087G>A p.E363K Missense 9/9 - 3
19-13054560-G-C c.1087G>C p.E363Q Missense 9/9 - 2
19-13054561-A-TTTGTC c.1088delinsTTTGTC p.E363Vfs*69 Frameshift 9/9 - 1
19-13054562-AGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGG-A c.1089_1141del p.E364Gfs*7 Frameshift 9/9 - 1
19-13054561-AGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A c.1090_1141del p.E364Rfs*49 Frameshift 9/9 - 2
19-13054563-G-C c.1090G>C p.E364Q Missense 9/9 - 1
19-13054563-GGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGA-G c.1090_1123del p.E364Nfs*55 Frameshift 9/9 - 1
19-13054564-A-G c.1091A>G p.E364G Missense 9/9 - 1
19-13054564-GAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGA-G c.1091_1142del p.E364Gfs*49 Frameshift 9/9 - 2
19-13054563-GAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAA-G c.1092_1125del p.E364Dfs*55 Frameshift 9/9 - 6
19-13054564-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAG-A c.1093_1138del p.Q365Rfs*50 Frameshift 9/9 - 2
19-13054566-GCA-G c.1093_1094del p.Q365Efs*3 Frameshift 9/9 - 1
19-13054566-GCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAAC-G c.1093_1126del p.Q365Afs*54 Frameshift 9/9 - 2
19-13054566-GCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGA-G c.1095_1153del p.R366Gfs*3 InFrameDeletion 9/9 - 1
19-13054567-CAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGA-C c.1094_1139del p.Q365Rfs*50 Frameshift 9/9 - 4
19-13054567-AGAG-A c.1096_1098del p.R366del InFrameDeletion 9/9 - 1
19-13054569-AGG-TGT c.1096_1098delinsTGT p.R366C Missense 9/9 - 1
19-13054568-GAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCA-G c.1097_1130del p.R366Kfs*53 Frameshift 9/9 - 2
19-13054570-G-A c.1097G>A p.R366K Missense 9/9 - 3
19-13054571-G-GA c.1098_1099insA p.L367Tfs*2 Frameshift 9/9 - 2
19-13054564-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A c.1099_1150del p.L367Tfs*46 Frameshift 9/9 - 63
19-13054566-CAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAA-C c.1099_1135del p.L367Rfs*51 Frameshift 9/9 - 1
19-13054567-AGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAG-A c.1099_1141del p.L367Rfs*49 Frameshift 9/9 - 1
19-13054568-GAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-G c.1099_1156del p.L367Rfs*44 Frameshift 9/9 - 2
19-13054570-GGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAA-G c.1099_1132del p.L367Rfs*52 Frameshift 9/9 - 3
19-13054572-C-A c.1099C>A p.L367I Missense 9/9 - 1
19-13054572-C-T c.1099C>T p.L367F Missense 9/9 - 2
19-13054572-CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGA-AGGT c.1099_1136delinsAGGT p.L367Rfs*52 Frameshift 9/9 - 1
19-13054572-GC-G c.1099del p.K368Rfs*62 Frameshift 9/9 - 1
19-13054572-GCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGA-G c.1099_1136del p.L367Gfs*9 Frameshift 9/9 - 1
19-13054572-GCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGA-G c.1099_1157del p.L367Gfs*2 Frameshift 9/9 - 4
19-13054572-GCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-G c.1099_1153del p.L367Rfs*45 Frameshift 9/9 - 2
19-13054567-AGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A c.1100_1145del p.L367Qfs*48 Frameshift 9/9 - 7
19-13054573-CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGA-C c.1100_1133del p.L367Rfs*52 Frameshift 9/9 - 3
19-13054574-TTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGAGG-T c.1101_1159del p.K368* Frameshift 9/9 - 2
19-13054574-TTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGAC-T c.1101_1152del p.K368Rfs*45 Frameshift 9/9 - 2
19-13054574-TTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCA-T c.1101_1146del p.K368Rfs*47 Frameshift 9/9 - 2
19-13054574-TTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAG-T c.1101_1134del p.K368Rfs*51 Frameshift 9/9 - 1
19-13054575-A-T c.1102A>T p.K368* Nonsense 9/9 - 1
19-13054575-TAAG-T c.1102_1104del p.K368del InFrameDeletion 9/9 - 2
19-13054574-TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-T c.1103_1154del p.K368Rfs*45 Frameshift 9/9 - 6
19-13054574-TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAG-T c.1103_1148del p.K368Rfs*47 Frameshift 9/9 - 4
19-13054574-TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGG-T c.1103_1139del p.K368Rfs*50 Frameshift 9/9 - 1
19-13054574-TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGG-T c.1103_1136del p.K368Rfs*51 Frameshift 9/9 - 10
19-13054576-AGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGC-GGAGGAGGG c.1103_1145delinsGGAGGAGGG p.K368Rfs*51 Frameshift 9/9 - 1
19-13054576-A-T c.1103A>T p.K368M Missense 9/9 - 1
19-13054577-G-A c.1104G>A p.K368= Synonymous 9/9 - 1
19-13054576-AGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAG-A c.1105_1138del p.E369Rfs*50 Frameshift 9/9 - 3
19-13054576-AGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAG-A c.1105_1150del p.E369Tfs*46 Frameshift 9/9 - 1
19-13054576-AGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAG-A c.1105_1156del p.E369Rfs*44 Frameshift 9/9 - 1
19-13054578-GAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGA-AGGAGGCAGT c.1105_1148delinsAGGAGGCAGT p.E369Rfs*50 Frameshift 9/9 - 1
19-13054579-A-C c.1106A>C p.E369A Missense 9/9 - 1
19-13054579-AG-A c.1108del p.E370Rfs*60 Frameshift 9/9 - 1
19-13054579-AGGAGGAAGAAGACAAGAAACGCAAAGAGGAG-A c.1108_1138del p.E370Rfs*50 Frameshift 9/9 - 1
19-13054579-AGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A c.1108_1141del p.E370Rfs*49 Frameshift 9/9 - 1
19-13054579-AGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A c.1108_1144del p.E370Qfs*48 Frameshift 9/9 - 1
19-13054581-GGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGAGGATGATGA-G c.1109_1167del p.E370Gfs*4 Frameshift 9/9 - 1
19-13054581-G-T c.1108G>T p.E370* Nonsense 9/9 - 1
19-13054582-GAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGAGGA-G c.1109_1160del p.E370Vfs*43 Frameshift 9/9 - 3
19-13054575-AAGG-A c.1110_1112del p.E372del InFrameDeletion 9/9 - 2
19-13054581-GAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGC-G c.1111_1147del p.E371Rfs*47 Frameshift 9/9 - 2
19-13054582-AG-A c.1111del p.E371Kfs*59 Frameshift 9/9 - 1
19-13054582-AGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A c.1111_1141del p.E371Rfs*49 Frameshift 9/9 - 4
19-13054582-AGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAG-A c.1111_1150del p.E371Tfs*46 Frameshift 9/9 - 2
19-13054584-G-T c.1111G>T p.E371* Nonsense 9/9 - 1
19-13054585-GAAGAAGACAAGAAACGCAAAGAGGAGGAGGA-G c.1112_1142del p.E371Gfs*49 Frameshift 9/9 - 1
19-13054578-GAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-G c.1113_1160del p.E371_E386del InFrameDeletion 9/9 - 1
19-13054586-AAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A c.1113_1143del p.E372Qfs*48 Frameshift 9/9 - 1
19-13054586-A-C c.1113A>C p.E371D Missense 9/9 - 2
19-13054586-A-T c.1113A>T p.E371D Missense 9/9 - 2
19-13054587-AGAAGACAAGAAACGCAAAGAGGAGGAGGAGG-A c.1114_1144del p.E372Qfs*48 Frameshift 9/9 - 3
19-13054587-G-A c.1114G>A p.E372K Missense 9/9 - 1
19-13054588-A-G c.1115A>G p.E372G Missense 9/9 - 2
19-13054583-GGAA-G c.1116_1118del p.E372del InFrameDeletion 9/9 - 1
19-13054587-GAAGACAAGAAACGCAAAGAGGAGGAGGAGGC-G c.1116_1146del p.D373Rfs*47 Frameshift 9/9 - 5
19-13054587-GA-G c.1116del p.D373Tfs*57 Frameshift 9/9 - 2
19-13054589-A-AT c.1116_1117insT p.D373* Nonsense 9/9 - 1
19-13054590-G-A c.1117G>A p.D373N Missense 9/9 - 1
19-13054590-GAC-ATG c.1117_1119delinsATG p.D373M Missense 9/9 - 2
19-13054588-AAGACAAGAAACGCAAAGAGGAGGAGG-A c.1118_1143del p.D373Gfs*7 Frameshift 9/9 - 1
19-13054591-A-C c.1118A>C p.D373A Missense 9/9 - 2
19-13054591-ACAAGAAACGCAAAGAGGAGGAGGAGGC-CGTTTA c.1118_1145delinsCGTTTA p.D373Afs*50 Frameshift 9/9 - 1
19-13054591-A-T c.1118A>T p.D373V Missense 9/9 - 1
19-13054591-GACAAGAAACGCAAAGAGGA-G c.1118_1136del p.D373Gfs*51 Frameshift 9/9 - 1
19-13054592-AC-A c.1119del p.D373Efs*57 Frameshift 9/9 - 1
19-13054593-AAGAAAC-TTCTTGTCTTCTTGTCTT c.1120_1126delinsTTCTTGTCTTCTTGTCTT p.K374Ffs*60 Frameshift 9/9 - 1
19-13054593-AAGAAA-TCTTGTCT c.1120_1125delinsTCTTGTCT p.K374Sfs*57 Frameshift 9/9 - 1
19-13054593-A-C c.1120A>C p.K374Q Missense 9/9 - 1
19-13054593-CAAGAAACGCAAAGAGGAGGAGGAGG-C c.1120_1144del p.K374Qfs*48 Frameshift 9/9 - 1
19-13054592-CAAGAAACGCAAAGAGGAGGAGGAGGCAG-C c.1121_1148del p.K374Rfs*47 Frameshift 9/9 - 2
19-13054592-CAAGAAACGCAAAGAGGAGGAGG-C c.1121_1142del p.K374Rfs*49 Frameshift 9/9 - 1
19-13054592-CAAGAAACGCAAAGAGGAGG-C c.1121_1139del p.K374Rfs*50 Frameshift 9/9 - 4
19-13054594-A-G c.1121A>G p.K374R Missense 9/9 - 1
19-13054592-CAAGA-C c.1122_1125del p.K374Nfs*55 Frameshift 9/9 - 5
19-13054592-CAAG-C c.1122_1124del p.K375del InFrameDeletion 9/9 - 1
19-13054595-AG-A c.1122del p.K375Nfs*55 Frameshift 9/9 - 2
19-13054595-G-A c.1122G>A p.K374= Synonymous 9/9 - 1
19-13054595-GA-TTGT c.1122_1123delinsTTGT p.K374Nfs*57 Frameshift 9/9 - 1
19-13054595-G-C c.1122G>C p.K374N Missense 9/9 - 1
19-13054594-AGAAACGCAAAGAGGAGGAGGAG-A c.1123_1144del p.K375Qfs*48 Frameshift 9/9 - 1
19-13054596-AAACGCAAAG-TGC c.1123_1132delinsTGC p.K375Cfs*53 Frameshift 9/9 - 1
19-13054596-AAA-TGTTT c.1123_1125delinsTGTTT p.K375Cfs*56 Frameshift 9/9 - 1
19-13054596-AAA-TTTTGTTT c.1123_1125delinsTTTTGTTT p.K375Ffs*57 Frameshift 9/9 - 1
19-13054596-A-C c.1123A>C p.K375Q Missense 9/9 - 1
19-13054596-GAAACGCAAAGA-G c.1123_1133del p.K375Gfs*10 Frameshift 9/9 - 1
19-13054592-CAAGAAACGCA-C c.1124_1133del p.K375Rfs*52 Frameshift 9/9 - 1
19-13054594-AGAAACGCAAAGAG-A c.1124_1136del p.K375Rfs*51 Frameshift 9/9 - 2
19-13054594-AGAAACGCAAAGAGGAGGAG-A c.1124_1142del p.K375Rfs*49 Frameshift 9/9 - 5
19-13054595-GAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-G c.1124_1154del p.K375Rfs*45 Frameshift 9/9 - 1
19-13054597-A-C c.1124A>C p.K375T Missense 9/9 - 1
19-13054597-A-G c.1124A>G p.K375R Missense 9/9 - 1
19-13054597-A-T c.1124A>T p.K375I Missense 9/9 - 1
19-13054595-GA-G c.1125del p.K375Nfs*55 Frameshift 9/9 - 3
19-13054596-AAACGCAAAGAGGAGGAGGAGGC-A c.1125_1146del p.K377Tfs*46 Frameshift 9/9 - 2
19-13054598-A-ATTCTTAGTGCT c.1125_1126insTTCTTAGTGCT p.R376Ffs*58 Frameshift 9/9 - 1
19-13054598-A-C c.1125A>C p.K375N Missense 9/9 - 1
19-13054598-A-G c.1125A>G p.K375= Synonymous 9/9 - 1
19-13054597-AACGCAAAGAGGAGGAGGAGGCAG-A c.1126_1148del p.R376Gfs*5 Frameshift 9/9 - 1
19-13054599-C-G c.1126C>G p.R376G Missense 9/9 - 1
19-13054599-CGC-TGA c.1126_1128delinsTGA p.R376* Nonsense 9/9 - 1
19-13054598-ACGCAAAGAGGAGGAGGAGG-A c.1127_1145del p.R376Qfs*48 Frameshift 9/9 - 4
19-13054600-G-A c.1127G>A p.R376H Missense 9/9 - 1
19-13054600-GCA-TTTGC c.1127_1129delinsTTTGC p.R376Lfs*55 Frameshift 9/9 - 1
19-13054599-C-CGCCTTT c.1128_1129insCTTTGC p.R376_K377insLC InFrameInsertion 9/9 - 1
19-13054602-AAAGAGGAGGAGGAGGCAGAGGACAA-TGTC c.1129_1154delinsTGTC p.K377Cfs*46 Frameshift 9/9 - 1
19-13054602-AAAGAGG-CTTTGCGTA c.1129_1135delinsCTTTGCGTA p.K377Lfs*54 Frameshift 9/9 - 1
19-13054602-A-C c.1129A>C p.K377Q Missense 9/9 - 1
19-13054602-CAAA-C c.1129_1131del p.K377del InFrameDeletion 9/9 - 1
19-13054602-CAAAGAGGAGGA-C c.1129_1139del p.K377Gfs*8 Frameshift 9/9 - 1
19-13054601-CAAAGAGGAGGAGGAGGCAG-C c.1130_1148del p.K377Rfs*47 Frameshift 9/9 - 1
19-13054601-CAAAGAGGAGGAGG-C c.1130_1142del p.K377Rfs*49 Frameshift 9/9 - 1
19-13054601-CAAAGAGGAGG-C c.1130_1139del p.K377Rfs*50 Frameshift 9/9 - 1
19-13054601-CAAAG-C c.1130_1133del p.K377Rfs*52 Frameshift 9/9 - 1
19-13054603-AAGAGGAGGAGGAGGCAGAGGACAA-TCCATCCTTGTC c.1130_1154delinsTCCATCCTTGTC p.K377Ifs*49 Frameshift 9/9 - 1
19-13054603-A-G c.1130A>G p.K377R Missense 9/9 - 1
19-13054604-A-ACTTT c.1131_1132insCTTT p.E378Lfs*2 Frameshift 9/9 - 2
19-13054604-A-C c.1131A>C p.K377N Missense 9/9 - 1
19-13054604-AGAGGAGGAGGAGGCA-GTGCCTCCTCCT c.1131_1146delinsGTGCCTCCTCCT p.E378Cfs*51 Frameshift 9/9 - 1
19-13054604-A-T c.1131A>T p.K377N Missense 9/9 - 1
19-13054603-AAGAGGAGGAGGAGGCAGAGGAC-A c.1132_1153del p.E378Rfs*45 Frameshift 9/9 - 4
19-13054605-G-C c.1132G>C p.E378Q Missense 9/9 - 1
19-13054605-GAGGAGGAGGAGGC-G c.1135_1147del p.E379Rfs*47 Frameshift 9/9 - 2
19-13054606-AG-A c.1135del p.E379Rfs*51 Frameshift 9/9 - 1
19-13054608-G-A c.1135G>A p.E379K Missense 9/9 - 1
19-13054608-GAGGAGGAGGCAGAGGAC-CCTCCTCTTTGTCT c.1135_1152delinsCCTCCTCTTTGTCT p.E379Pfs*50 Frameshift 9/9 - 2
19-13054609-GA-G c.1136del p.E379Gfs*51 Frameshift 9/9 - 1
19-13054610-G-C c.1137G>C p.E379D Missense 9/9 - 3
19-13054610-GGAGGAGGCAGAGGACAA-CCATCCTTGTC c.1137_1154delinsCCATCCTTGTC p.E379Dfs*49 Frameshift 9/9 - 1
19-13054610-G-T c.1137G>T p.E379D Missense 9/9 - 2
19-13054611-GAGGAGGCAGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAGGA-AGGAGGCAGAGGACAAGGAGG c.1138_1196delinsAGGAGGCAGAGGACAAGGAGG p.E380Rfs*13 MultiAAMissense 9/9 - 1
19-13054611-G-T c.1138G>T p.E380* Nonsense 9/9 - 3
19-13054611-G-GAC c.1139_1140insCA p.E380Dfs*51 Frameshift 9/9 - 1
19-13054612-A-ATC c.1139_1140insTC p.E380Dfs*51 Frameshift 9/9 - 1
19-13054612-A-G c.1139A>G p.E380G Missense 9/9 - 8
19-13054612-AGGAGGCAGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAGGAG-CAAGGAGGATGATGAGGACAAA c.1139_1197delinsCAAGGAGGATGATGAGGACAAA p.E380Afs*38 Frameshift 9/9 - 1
19-13054612-GA-G c.1139del p.E380Gfs*50 Frameshift 9/9 - 3
19-13054613-G-A c.1140G>A p.E380= Synonymous 9/9 - 1
19-13054612-AG-A c.1141del p.E381Rfs*49 Frameshift 9/9 - 2
19-13054614-G-A c.1141G>A p.E381K Missense 9/9 - 1
19-13054614-GAG-ATC c.1141_1143delinsATC p.E381I Missense 9/9 - 1
19-13054614-G-C c.1141G>C p.E381Q Missense 9/9 - 1
19-13054604-AGAG-A c.1142_1144del p.E381del InFrameDeletion 9/9 - 7
19-13054615-A-C c.1142A>C p.E381A Missense 9/9 - 16
19-13054615-A-G c.1142A>G p.E381G Missense 9/9 - 3
19-13054615-AGGCAGAGGA-CGGCATGTC c.1142_1151delinsCGGCATGTC p.E381Afs*49 Frameshift 9/9 - 1
19-13054616-G-A c.1143G>A p.E381= Synonymous 9/9 - 1
19-13054616-GGCAGAGGACAA-TCCTTGTC c.1143_1154delinsTCCTTGTC p.E381Dfs*48 Frameshift 9/9 - 1
19-13054615-AG-A c.1144del p.A382Qfs*48 Frameshift 9/9 - 3
19-13054617-G-A c.1144G>A p.A382T Missense 9/9 - 3
19-13054617-GCAGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAGGAGGACAA-CAGAGGACAAGGAGGATGAT c.1144_1202delinsCAGAGGACAAGGAGGATGAT p.A382_K401delinsQRTRRMM Frameshift 9/9 - 1
19-13054617-G-T c.1144G>T p.A382S Missense 9/9 - 2
19-13054616-G-GGCGAC c.1145_1146insGACGC p.E383Tfs*49 Frameshift 9/9 - 1
19-13054618-C-A c.1145C>A p.A382E Missense 9/9 - 1
19-13054618-C-T c.1145C>T p.A382V Missense 9/9 - 2
19-13054618-CAGAGG-C c.1147_1151del p.E383Qfs*4 Frameshift 9/9 - 1
19-13054620-GAGGACAA-TGTC c.1147_1154delinsTGTC p.E383Cfs*46 Frameshift 9/9 - 1
19-13054620-G-GAC c.1148_1149insCA p.E383Dfs*48 Frameshift 9/9 - 1
19-13054621-A-ATCCTTGTC c.1148_1149insTCCTTGTC p.E383Dfs*50 Frameshift 9/9 - 2
19-13054621-AGGACAA-GAC c.1148_1154delinsGAC p.E383Gfs*46 Frameshift 9/9 - 1
19-13054621-A-T c.1148A>T p.E383V Missense 9/9 - 1
19-13054621-GAGGACAAGGAGGATGA-G c.1148_1163del p.E383Vfs*42 Frameshift 9/9 - 1
19-13054623-G-A c.1150G>A p.D384N Missense 9/9 - 1
19-13054623-GACAA-TGTC c.1150_1154delinsTGTC p.D384Cfs*46 Frameshift 9/9 - 1
19-13054623-GACA-TTGTCCTCCTCCTGCCTC c.1150_1153delinsTTGTCCTCCTCCTGCCTC p.D384Lfs*51 Frameshift 9/9 - 1
19-13054623-G-C c.1150G>C p.D384H Missense 9/9 - 1
19-13054623-G-T c.1150G>T p.D384Y Missense 9/9 - 1
19-13054622-GGACAA-G c.1151_1155del p.D384Gfs*3 Frameshift 9/9 - 1
19-13054624-A-C c.1151A>C p.D384A Missense 9/9 - 1
19-13054624-ACAA-GCAATTGTC c.1151_1154delinsGCAATTGTC p.D384Gfs*48 Frameshift 9/9 - 1
19-13054624-ACAA-TATGTC c.1151_1154delinsTATGTC p.D384Vfs*47 Frameshift 9/9 - 1
19-13054624-ACAA-TTTGTC c.1151_1154delinsTTTGTC p.D384Vfs*47 Frameshift 9/9 - 1
19-13054624-A-G c.1151A>G p.D384G Missense 9/9 - 1
19-13054620-GAGGACA-G c.1152_1157del p.D384_K385del InFrameDeletion 9/9 - 1
19-13054625-C-CT c.1152_1153insT p.K385* Nonsense 9/9 - 3
19-13054625-C-G c.1152C>G p.D384E Missense 9/9 - 2
19-13054625-C-T c.1152C>T p.D384= Synonymous 9/9 - 1
19-13054626-A-ACTTGT c.1153_1154insCTTGT p.K385Tfs*47 Frameshift 9/9 - 3
19-13054626-A-ATATGT c.1153_1154insTATGT p.K385Ifs*47 Frameshift 9/9 - 1
19-13054626-A-ATCTGT c.1153_1154insTCTGT p.K385Ifs*47 Frameshift 9/9 - 4
19-13054626-AA-TCTTGTC c.1153_1154delinsTCTTGTC p.K385Sfs*47 Frameshift 9/9 - 1
19-13054626-AA-TGTC c.1153_1154delinsTGTC p.K385Cfs*46 Frameshift 9/9 - 1
19-13054626-A-G c.1153A>G p.K385E Missense 9/9 - 2
19-13054626-A-T c.1153A>T p.K385* Nonsense 9/9 - 1
19-13054625-CA-C c.1154del p.K385Rfs*45 Frameshift 9/9 - 2
19-13054625-C-CA c.1154dup p.E386Gfs*3 Frameshift 9/9 - 1
19-13054627-A-AATGTC c.1154_1155insATGTC p.E386Cfs*46 Frameshift 9/9 - 6
19-13054627-A-AT c.1154_1155insT p.K385Nfs*4 Frameshift 9/9 - 1
19-13054627-A-ATTGAC c.1154_1155insTTGAC p.K385Nfs*2 Frameshift 9/9 - 1
19-13054627-A-ATTGTC c.1154_1155insTTGTC p.K385Nfs*47 Frameshift 9/9 - 51
19-13054627-A-C c.1154A>C p.K385T Missense 9/9 - 2
19-13054627-A-CTTGTC c.1154delinsCTTGTC p.K385Tfs*47 Frameshift 9/9 - 3
19-13054627-A-G c.1154A>G p.K385R Missense 9/9 - 1
19-13054627-A-GTTGTC c.1154delinsGTTGTC p.K385Sfs*47 Frameshift 9/9 - 1
19-13054627-A-T c.1154A>T p.K385M Missense 9/9 - 1
19-13054627-A-TATGTC c.1154delinsTATGTC p.K385Ifs*47 Frameshift 9/9 - 1
19-13054627-A-TCTGTC c.1154delinsTCTGTC p.K385Ifs*47 Frameshift 9/9 - 1
19-13054627-A-TGTGTC c.1154delinsTGTGTC p.K385Mfs*47 Frameshift 9/9 - 1
19-13054627-A-TTTATC c.1154delinsTTTATC p.K385Ifs*47 Frameshift 9/9 - 1
19-13054627-A-TTTGTC c.1154delinsTTTGTC p.K385Ifs*47 Frameshift 9/9 - 2
19-13054627-A-AGTGTC c.1155_1156insTGTCG p.E386Cfs*46 Frameshift 9/9 - 2
19-13054628-G-A c.1155G>A p.K385= Synonymous 9/9 - 1
19-13054629-G-T c.1156G>T p.E386* Nonsense 9/9 - 1
19-13054630-A-G c.1157A>G p.E386G Missense 9/9 - 5
19-13054630-GA-G c.1157del p.E386Gfs*44 Frameshift 9/9 - 1
19-13054631-G-C c.1158G>C p.E386D Missense 9/9 - 1
19-13054631-G-GT c.1158_1159insT p.D387* Nonsense 9/9 - 1
19-13054631-G-T c.1158G>T p.E386D Missense 9/9 - 1
19-13054630-AG-A c.1159del p.D387Mfs*43 Frameshift 9/9 - 1
19-13054630-AGGATGATGAGGACAAAGAT-A c.1159_1177del p.D387Rfs*37 Frameshift 9/9 - 2
19-13054632-G-T c.1159G>T p.D387Y Missense 9/9 - 2
19-13054619-AGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAG-A c.1161_1208del p.D387_E402del InFrameDeletion 9/9 - 1
19-13054634-T-A c.1161T>A p.D387E Missense 9/9 - 1
19-13054634-T-G c.1161T>G p.D387E Missense 9/9 - 3
19-13054635-G-A c.1162G>A p.D388N Missense 9/9 - 1
19-13054635-TG-T c.1162del p.D388Mfs*42 Frameshift 9/9 - 1
19-13054636-A-C c.1163A>C p.D388A Missense 9/9 - 1
19-13054637-T-G c.1164T>G p.D388E Missense 9/9 - 2
19-13054638-G-A c.1165G>A p.E389K Missense 9/9 - 3
19-13054638-G-T c.1165G>T p.E389* Nonsense 9/9 - 2
19-13054639-A-G c.1166A>G p.E389G Missense 9/9 - 1
19-13054640-G-C c.1167G>C p.E389D Missense 9/9 - 3
19-13054640-G-T c.1167G>T p.E389D Missense 9/9 - 2
19-13054641-G-T c.1168G>T p.D390Y Missense 9/9 - 1
19-13054642-A-T c.1169A>T p.D390V Missense 9/9 - 1
19-13054641-GACAAAGATGAGGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGA-G c.1170_1221del p.D390Efs*23 Frameshift 9/9 - 1
19-13054643-C-A c.1170C>A p.D390E Missense 9/9 - 2
19-13054643-CA-GG c.1170_1171delinsGG p.D390_K391delinsEE MultiAAMissense 9/9 - 1
19-13054643-C-G c.1170C>G p.D390E Missense 9/9 - 1
19-13054644-A-C c.1171A>C p.K391Q Missense 9/9 - 1
19-13054644-A-G c.1171A>G p.K391E Missense 9/9 - 3
19-13054644-A-T c.1171A>T p.K391* Nonsense 9/9 - 4
19-13054645-A-G c.1172A>G p.K391R Missense 9/9 - 1
19-13054645-A-T c.1172A>T p.K391I Missense 9/9 - 1
19-13054637-TGAGGACAAAGATGAGGATGAGGAGGATGAG-T c.1173_1202del p.D392_K401del InFrameDeletion 9/9 - 1
19-13054646-A-T c.1173A>T p.K391N Missense 9/9 - 1
19-13054647-AGATGAGGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGG-A c.1174_1219del p.D392Kfs*23 Frameshift 9/9 - 1
19-13054648-A-C c.1175A>C p.D392A Missense 9/9 - 1
19-13054648-A-G c.1175A>G p.D392G Missense 9/9 - 1
19-13054648-A-T c.1175A>T p.D392V Missense 9/9 - 1
19-13054649-T-A c.1176T>A p.D392E Missense 9/9 - 1
19-13054649-T-G c.1176T>G p.D392E Missense 9/9 - 2
19-13054650-G-A c.1177G>A p.E393K Missense 9/9 - 2
19-13054650-G-T c.1177G>T p.E393* Nonsense 9/9 - 1
19-13054652-GGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGAAGATGTCCCCGGC-AGG c.1179_1233delinsAGG p.D394Gfs*19 Frameshift 9/9 - 1
19-13054652-G-T c.1179G>T p.E393D Missense 9/9 - 1
19-13054650-GAGGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGA-G c.1180_1222del p.D394Mfs*22 Frameshift 9/9 - 1
19-13054651-AGGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGAAGATGTCCCC-A c.1181_1232del p.D394Afs*19 Frameshift 9/9 - 2
19-13054654-A-C c.1181A>C p.D394A Missense 9/9 - 1
19-13054654-A-G c.1181A>G p.D394G Missense 9/9 - 1
19-13054654-A-T c.1181A>T p.D394V Missense 9/9 - 1
19-13054655-ATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAG-A c.1182_1215del p.D394Efs*25 Frameshift 9/9 - 1
19-13054655-T-G c.1182T>G p.D394E Missense 9/9 - 1
19-13054656-G-A c.1183G>A p.E395K Missense 9/9 - 1
19-13054656-G-T c.1183G>T p.E395* Nonsense 9/9 - 1
19-13054656-TGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGAAGATGTCC-T c.1183_1228del p.E395Pfs*20 Frameshift 9/9 - 1
19-13054656-TGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGG-T c.1183_1216del p.E395Rfs*24 Frameshift 9/9 - 1
19-13054657-A-T c.1184A>T p.E395V Missense 9/9 - 1
19-13054658-G-C c.1185G>C p.E395D Missense 9/9 - 1
19-13054658-G-T c.1185G>T p.E395D Missense 9/9 - 1
19-13054657-AGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAG-A c.1186_1219del p.E396Kfs*23 Frameshift 9/9 - 1
19-13054659-G-A c.1186G>A p.E396K Missense 9/9 - 1
19-13054660-A-T c.1187A>T p.E396V Missense 9/9 - 1
19-13054655-TGAG-T c.1188_1190del p.E396del InFrameDeletion 9/9 - 2
19-13054662-G-A c.1189G>A p.D397N Missense 9/9 - 1
19-13054649-TGAGGATGAG-T c.1191_1199del p.E398_D400del InFrameDeletion 9/9 - 5
19-13054664-T-A c.1191T>A p.D397E Missense 9/9 - 2
19-13054664-T-C c.1191T>C p.D397= Synonymous 9/9 - 1
19-13054664-T-G c.1191T>G p.D397E Missense 9/9 - 2
19-13054665-G-A c.1192G>A p.E398K Missense 9/9 - 4
19-13054665-GA-CC c.1192_1193delinsCC p.E398P Missense 9/9 - 1
19-13054666-A-C c.1193A>C p.E398A Missense 9/9 - 1
19-13054667-G-C c.1194G>C p.E398D Missense 9/9 - 2
19-13054667-G-T c.1194G>T p.E398D Missense 9/9 - 7
19-13054668-G-A c.1195G>A p.E399K Missense 9/9 - 1
19-13054669-GAGGACAAGGAGGAAGATGAGGAGGAAGATGT-G c.1196_1226del p.E399Afs*21 Frameshift 9/9 - 1
19-13054664-TGAG-T c.1197_1199del p.E399del InFrameDeletion 9/9 - 3
19-13054671-G-A c.1198G>A p.D400N Missense 9/9 - 2
19-13054671-G-C c.1198G>C p.D400H Missense 9/9 - 2
19-13054671-GGAC-G c.1198_1200del p.D400del InFrameDeletion 9/9 - 1
19-13054672-A-T c.1199A>T p.D400V Missense 9/9 - 1
19-13054673-C-A c.1200C>A p.D400E Missense 9/9 - 1
19-13054673-CAAGGAGGAAGATGAGGAGGA-TCTTGTCT c.1200_1220delinsTCTTGTCT p.K401Lfs*3 Frameshift 9/9 - 1
19-13054673-C-G c.1200C>G p.D400E Missense 9/9 - 2
19-13054674-A-G c.1201A>G p.K401E Missense 9/9 - 1
19-13054674-A-T c.1201A>T p.K401* Nonsense 9/9 - 1
19-13054675-A-T c.1202A>T p.K401M Missense 9/9 - 1
19-13054677-G-A c.1204G>A p.E402K Missense 9/9 - 1
19-13054677-G-T c.1204G>T p.E402* Nonsense 9/9 - 2
19-13054680-G-A c.1207G>A p.E403K Missense 9/9 - 1
19-13054680-GAA-TAT c.1207_1209delinsTAT p.E403Y Missense 9/9 - 1
19-13054680-G-T c.1207G>T p.E403* Nonsense 9/9 - 4
19-13054682-A-T c.1209A>T p.E403D Missense 9/9 - 1
19-13054684-GATGAGGA-G c.1211_1217del p.D404Gfs*24 Frameshift 9/9 - 1
19-13054685-T-A c.1212T>A p.D404E Missense 9/9 - 4
19-13054685-T-G c.1212T>G p.D404E Missense 9/9 - 3
19-13054686-G-A c.1213G>A p.E405K Missense 9/9 - 1
19-13054686-G-C c.1213G>C p.E405Q Missense 9/9 - 3
19-13054686-G-T c.1213G>T p.E405* Nonsense 9/9 - 4
19-13054674-AAGGAGGAAGATG-A c.1214_1225del p.E405_D408del InFrameDeletion 9/9 - 2
19-13054687-GA-G c.1214del p.E405Gfs*25 Frameshift 9/9 - 1
19-13054688-G-T c.1215G>T p.E405D Missense 9/9 - 1
19-13054687-AG-A c.1216del p.E406Rfs*24 Frameshift 9/9 - 1
19-13054685-TGAG-T c.1218_1220del p.E407del InFrameDeletion 9/9 - 2
19-13054691-G-A c.1218G>A p.E406= Synonymous 9/9 - 1
19-13054694-A-G c.1221A>G p.E407= Synonymous 9/9 - 1
19-13054694-A-T c.1221A>T p.E407D Missense 9/9 - 1
19-13054695-G-A c.1222G>A p.D408N Missense 9/9 - 1
19-13054696-A-T c.1223A>T p.D408V Missense 9/9 - 1
19-13054699-T-C c.1226T>C p.V409A Missense 9/9 - 1
19-13054699-T-G c.1226T>G p.V409G Missense 9/9 - 1
19-13054700-TCCCCG-T c.1227_1231del p.A413Gfs*27 Frameshift 9/9 - 1
19-13054700-C-CCTCCTTGT c.1228_1229insTCCTTGTC p.P410Lfs*23 Frameshift 9/9 - 1
19-13054701-CC-GT c.1228_1229delinsGT p.P410V Missense 9/9 - 1
19-13054702-C-T c.1229C>T p.P410L Missense 9/9 - 7
19-13054703-C-A c.1230C>A p.P410= Synonymous 9/9 - 1
19-13054704-G-A c.1231G>A p.G411S Missense 9/9 - 4
19-13054704-GGC-TGA c.1231_1233delinsTGA p.G411* Nonsense 9/9 - 1
19-13054706-C-CCTTGT c.1234_1235insTTGTC p.Q412Lfs*20 Frameshift 9/9 - 2
19-13054707-C-T c.1234C>T p.Q412* Nonsense 9/9 - 1
19-13054708-A-ATGTCG c.1235_1236insTGTCG p.Q412Hfs*20 Frameshift 9/9 - 1
19-13054708-A-T c.1235A>T p.Q412L Missense 9/9 - 1
19-13054709-G-A c.1236G>A p.Q412= Synonymous 9/9 - 2
19-13054709-G-C c.1236G>C p.Q412H Missense 9/9 - 1
19-13054709-G-T c.1236G>T p.Q412H Missense 9/9 - 1
19-13054710-G-A c.1237G>A p.A413T Missense 9/9 - 3
19-13054710-G-GAAGGA c.1237_1238insAAGGA p.A413Efs*19 Frameshift 9/9 - 1
19-13054710-G-T c.1237G>T p.A413S Missense 9/9 - 1
19-13054713-A-G c.1240A>G p.K414E Missense 9/9 - 4
19-13054713-A-T c.1240A>T p.K414* Nonsense 9/9 - 1
19-13054715-G-A c.1242G>A p.K414= Synonymous 9/9 - 1
19-13054717-A-G c.1244A>G p.D415G Missense 9/9 - 2
19-13054718-C-A c.1245C>A p.D415E Missense 9/9 - 2
19-13054718-C-G c.1245C>G p.D415E Missense 9/9 - 6
19-13054718-C-T c.1245C>T p.D415= Synonymous 9/9 - 3
19-13054719-G-A c.1246G>A p.E416K Missense 9/9 - 2
19-13054726-A-T c.1253A>T p.*418Lext*9 Missense 9/9 - 1
19-13054781-G-T c.*54G>T - 3-UTRSNV 9/9 - 24
19-13054904-T-C c.*177T>C - 3-UTRSNV 9/9 - 3