EGFR epidermal growth factor receptor

Annotation transcript: NM_005228.5

3645 unique variant annotations were identified in 4686 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
7-55086755-G-C c.-216G>C - 5-UTRSNV 1/28 - 29
7-55086755-G-T c.-216G>T - 5-UTRSNV 1/28 - 29
7-55086780-A-C c.-191A>C - 5-UTRSNV 1/28 - 21
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A c.2_60del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/28 - 1
7-55086974-C-A c.4C>A p.R2= Synonymous 1/28 - 121
7-55086976-A-C c.6A>C p.R2= Synonymous 1/28 - 117
7-55086976-A-G c.6A>G p.R2= Synonymous 1/28 - 117
7-55086976-A-T c.6A>T p.R2= Synonymous 1/28 - 117
7-55086974-C-T c.4C>T p.R2* Nonsense 1/28 - 4
7-55086974-CG-GA c.4_5delinsGA p.R2E Missense 1/28 - 1
7-55086975-G-A c.5G>A p.R2Q Missense 1/28 - 1
7-55086979-C-T c.9C>T p.P3= Synonymous 1/28 - 4
7-55086979-C-G c.9C>G p.P3= Synonymous 1/28 - 4
7-55086979-C-A c.9C>A p.P3= Synonymous 1/28 - 4
7-55086985-G-T c.15G>T p.G5= Synonymous 1/28 - 1
7-55086985-G-A c.15G>A p.G5= Synonymous 1/28 - 1
7-55086985-G-C c.15G>C p.G5= Synonymous 1/28 - 1
7-55086987-C-A c.17C>A p.T6K Missense 1/28 - 1
7-55086991-C-A c.21C>A p.A7= Synonymous 1/28 - 1
7-55086991-C-G c.21C>G p.A7= Synonymous 1/28 - 1
7-55086991-C-T c.21C>T p.A7= Synonymous 1/28 - 1
7-55086992-G-C c.22G>C p.G8R Missense 1/28 - 1
7-55086991-C-CGGCCAGCGT c.23_24insCCAGCGTGG p.G8_A9insQRG InFrameInsertion 1/28 - 1
7-55086994-G-GTA c.24_25insTA p.A9* Nonsense 1/28 - 1
7-55086996-C-T c.26C>T p.A9V Missense 1/28 - 1
7-55086997-A-C c.27A>C p.A9= Synonymous 1/28 - 1
7-55086998-GCG-TTT c.28_30delinsTTT p.A10F Missense 1/28 - 4
7-55086998-GCG-TGT c.28_30delinsTGT p.A10C Missense 1/28 - 3
7-55086998-GC-TA c.28_29delinsTA p.A10* Nonsense 1/28 - 1
7-55086998-GCG-ATC c.28_30delinsATC p.A10I Missense 1/28 - 2
7-55086998-GCG-CAT c.28_30delinsCAT p.A10H Missense 1/28 - 1
7-55086998-GC-CT c.28_29delinsCT p.A10L Missense 1/28 - 1
7-55086998-G-A c.28G>A p.A10T Missense 1/28 - 1
7-55086998-GC-AA c.28_29delinsAA p.A10K Missense 1/28 - 1
7-55086999-CG-AC c.29_30delinsAC p.A10D Missense 1/28 - 3
7-55087000-G-A c.30G>A p.A10= Synonymous 1/28 - 6
7-55087000-G-C c.30G>C p.A10= Synonymous 1/28 - 6
7-55087000-G-T c.30G>T p.A10= Synonymous 1/28 - 6
7-55087001-CTC-GAG c.31_33inv p.L11E Missense 1/28 - 1
7-55087001-CT-AG c.31_32inv p.L11S Missense 1/28 - 1
7-55087001-CT-GA c.31_32delinsGA p.L11D Missense 1/28 - 1
7-55087001-CT-GC c.31_32delinsGC p.L11A Missense 1/28 - 1
7-55087004-C-A c.34C>A p.L12M Missense 1/28 - 2
7-55087004-CT-GC c.34_35delinsGC p.L12A Missense 1/28 - 1
7-55087004-C-T c.34C>T p.L12= Synonymous 1/28 - 1
7-55087004-CTG-TGT c.34_36delinsTGT p.L12C Missense 1/28 - 1
7-55087004-CTG-GAC c.34_36delinsGAC p.L12D Missense 1/28 - 1
7-55087007-GCG-TGT c.37_39delinsTGT p.A13C Missense 1/28 - 3
7-55087007-G-A c.37G>A p.A13T Missense 1/28 - 2
7-55087007-G-C c.37G>C p.A13P Missense 1/28 - 1
7-55087007-G-T c.37G>T p.A13S Missense 1/28 - 2
7-55087007-GC-CT c.37_38delinsCT p.A13L Missense 1/28 - 1
7-55087008-CG-AC c.38_39delinsAC p.A13D Missense 1/28 - 2
7-55087008-C-T c.38C>T p.A13V Missense 1/28 - 5
7-55087009-G-A c.39G>A p.A13= Synonymous 1/28 - 3
7-55087009-G-C c.39G>C p.A13= Synonymous 1/28 - 3
7-55087009-G-T c.39G>T p.A13= Synonymous 1/28 - 3
7-55087010-CT-GC c.40_41delinsGC p.L14A Missense 1/28 - 1
7-55087010-CTG-ATC c.40_42delinsATC p.L14I Missense 1/28 - 1
7-55087010-CTG-GAC c.40_42delinsGAC p.L14D Missense 1/28 - 1
7-55087010-CT-GA c.40_41delinsGA p.L14E Missense 1/28 - 1
7-55087010-CT-GG c.40_41delinsGG p.L14G Missense 1/28 - 1
7-55087011-TG-AT c.41_42delinsAT p.L14H Missense 1/28 - 2
7-55087013-C-A c.43C>A p.L15M Missense 1/28 - 2
7-55087013-CT-GA c.43_44delinsGA p.L15E Missense 1/28 - 2
7-55087013-CT-GC c.43_44delinsGC p.L15A Missense 1/28 - 1
7-55087013-CTG-GAC c.43_45delinsGAC p.L15D Missense 1/28 - 1
7-55087013-CTG-TTT c.43_45delinsTTT p.L15F Missense 1/28 - 1
7-55087013-CT-GG c.43_44delinsGG p.L15G Missense 1/28 - 1
7-55087013-CTG-ATC c.43_45delinsATC p.L15I Missense 1/28 - 1
7-55087014-T-C c.44T>C p.L15P Missense 1/28 - 2
7-55087014-TG-AT c.44_45delinsAT p.L15H Missense 1/28 - 1
7-55087016-GCT-TGG c.46_48delinsTGG p.A16W Missense 1/28 - 1
7-55087016-G-A c.46G>A p.A16T Missense 1/28 - 1
7-55087016-GC-TT c.46_47delinsTT p.A16F Missense 1/28 - 1
7-55087017-C-T c.47C>T p.A16V Missense 1/28 - 4
7-55087017-CT-AG c.47_48inv p.A16E Missense 1/28 - 2
7-55087017-C-G c.47C>G p.A16G Missense 1/28 - 2
7-55087017-C-A c.47C>A p.A16D Missense 1/28 - 1
7-55087018-T-A c.48T>A p.A16= Synonymous 1/28 - 4
7-55087018-T-C c.48T>C p.A16= Synonymous 1/28 - 4
7-55087018-T-G c.48T>G p.A16= Synonymous 1/28 - 4
7-55087019-GCG-TTT c.49_51delinsTTT p.A17F Missense 1/28 - 2
7-55087019-G-A c.49G>A p.A17T Missense 1/28 - 2
7-55087020-C-T c.50C>T p.A17V Missense 1/28 - 1
7-55087020-C-A c.50C>A p.A17E Missense 1/28 - 3
7-55087020-C-G c.50C>G p.A17G Missense 1/28 - 1
7-55087022-C-T c.52C>T p.L18F Missense 1/28 - 4
7-55087022-C-A c.52C>A p.L18I Missense 1/28 - 3
7-55087022-CT-GC c.52_53delinsGC p.L18A Missense 1/28 - 1
7-55087025-TG-GC c.55_56delinsGC p.C19A Missense 1/28 - 1
7-55087025-TG-CA c.55_56inv p.C19H Missense 1/28 - 2
7-55087025-TG-AC c.55_56delinsAC p.C19T Missense 1/28 - 2
7-55087025-TGC-ATG c.55_57delinsATG p.C19M Missense 1/28 - 1
7-55087025-T-A c.55T>A p.C19S Missense 1/28 - 2
7-55087026-G-C c.56G>C p.C19S Missense 1/28 - 2
7-55087025-T-G c.55T>G p.C19G Missense 1/28 - 1
7-55087026-G-T c.56G>T p.C19F Missense 1/28 - 1
7-55087027-C-A c.57C>A p.C19* Nonsense 1/28 - 3
7-55087027-C-T c.57C>T p.C19= Synonymous 1/28 - 1
7-55087028-CCG-GAC c.58_60delinsGAC p.P20D Missense 1/28 - 2
7-55087028-C-A c.58C>A p.P20T Missense 1/28 - 1
7-55087028-CC-GA c.58_59delinsGA p.P20E Missense 1/28 - 1
7-55087028-CCG-TGT c.58_60delinsTGT p.P20C Missense 1/28 - 1
7-55087028-CC-AA c.58_59delinsAA p.P20K Missense 1/28 - 1
7-55087029-C-T c.59C>T p.P20L Missense 1/28 - 1
7-55087030-G-T c.60G>T p.P20= Synonymous 1/28 - 1
7-55087030-G-A c.60G>A p.P20= Synonymous 1/28 - 1
7-55087030-G-C c.60G>C p.P20= Synonymous 1/28 - 1
7-55087031-GCG-TTT c.61_63delinsTTT p.A21F Missense 1/28 - 3
7-55087031-GCG-TGT c.61_63delinsTGT p.A21C Missense 1/28 - 1
7-55087031-G-A c.61G>A p.A21T Missense 1/28 - 2
7-55087031-G-C c.61G>C p.A21P Missense 1/28 - 1
7-55087031-G-T c.61G>T p.A21S Missense 1/28 - 1
7-55087032-C-A c.62C>A p.A21E Missense 1/28 - 3
7-55087032-CG-AC c.62_63delinsAC p.A21D Missense 1/28 - 2
7-55087034-GAGTC-G c.64_67del p.S22Gfs*57 Frameshift 1/28 - 1
7-55087034-AG-GC c.64_65delinsGC p.S22A Missense 1/28 - 3
7-55087034-AG-GA c.64_65delinsGA p.S22D Missense 1/28 - 4
7-55087034-AGT-GAG c.64_66delinsGAG p.S22E Missense 1/28 - 1
7-55087034-AG-TT c.64_65delinsTT p.S22F Missense 1/28 - 1
7-55087034-A-G c.64A>G p.S22G Missense 1/28 - 1
7-55087034-A-T c.64A>T p.S22C Missense 1/28 - 1
7-55087035-G-A c.65G>A p.S22N Missense 1/28 - 6
7-55087035-GT-TG c.65_66delinsTG p.S22M Missense 1/28 - 1
7-55087035-G-T c.65G>T p.S22I Missense 1/28 - 1
7-55087036-T-G c.66T>G p.S22R Missense 1/28 - 1
7-55087036-T-A c.66T>A p.S22R Missense 1/28 - 1
7-55087034-A-C c.64A>C p.S22R Missense 1/28 - 1
7-55087037-C-T c.67C>T p.R23W Missense 1/28 - 3
7-55087037-CG-GC c.67_68delinsGC p.R23A Missense 1/28 - 1
7-55087037-CGG-TGT c.67_69delinsTGT p.R23C Missense 1/28 - 1
7-55087037-C-G c.67C>G p.R23G Missense 1/28 - 1
7-55087038-GG-AT c.68_69delinsAT p.R23H Missense 1/28 - 1
7-55087040-GC-TG c.70_71delinsTG p.A24C Missense 1/28 - 1
7-55087040-GC-TT c.70_71delinsTT p.A24F Missense 1/28 - 2
7-55087037-CG-C c.70del p.A24Lfs*56 Frameshift 1/28 - 1
7-55087041-CT-AG c.71_72inv p.A24E Missense 1/28 - 1
7-55087042-T-A c.72T>A p.A24= Synonymous 1/28 - 4
7-55087042-T-C c.72T>C p.A24= Synonymous 1/28 - 4
7-55087042-T-G c.72T>G p.A24= Synonymous 1/28 - 4
7-55087043-CTG-TGT c.73_75delinsTGT p.L25C Missense 1/28 - 1
7-55087043-C-T c.73C>T p.L25= Synonymous 1/28 - 1
7-55087044-T-G c.74T>G p.L25R Missense 1/28 - 1
7-55087046-GAG-TGT c.76_78delinsTGT p.E26C Missense 1/28 - 1
7-55087047-A-T c.77A>T p.E26V Missense 1/28 - 1
7-55087047-A-C c.77A>C p.E26A Missense 1/28 - 1
7-55087049-G-C c.79G>C p.E27Q Missense 1/28 - 1
7-55087049-GAA-TTT c.79_81delinsTTT p.E27F Missense 1/28 - 1
7-55087050-A-C c.80A>C p.E27A Missense 1/28 - 2
7-55087051-A-AGGC c.81_82insGGC p.E27_K28insG InFrameInsertion 1/28 - 1
7-55087052-AA-GC c.82_83delinsGC p.K28A Missense 1/28 - 1
7-55087052-AA-CT c.82_83delinsCT p.K28L Missense 1/28 - 1
7-55087052-AAG-TAT c.82_84delinsTAT p.K28Y Missense 1/28 - 1
7-55087052-A-C c.82A>C p.K28Q Missense 1/28 - 1
7-55087053-A-G c.83A>G p.K28R Missense 1/28 - 2
7-55087053-A-T c.83A>T p.K28M Missense 1/28 - 2
7-55087055-AA-GC c.85_86delinsGC p.K29A Missense 1/28 - 1
7-55087056-A-G c.86A>G p.K29R Missense 1/28 - 6
7-55087060-T-C c.88+2T>C - IntronicSNV - 1/27 1
7-55087071-C-T c.88+13C>T - IntronicSNV - 1/27 1
7-55087139-G-T c.88+81G>T - IntronicSNV - 1/27 1
7-55088415-T-C c.88+1357T>C - IntronicSNV - 1/27 5
7-55088508-T-C c.88+1450T>C - IntronicSNV - 1/27 1
7-55089963-C-A c.88+2905C>A - IntronicSNV - 1/27 1
7-55089963-C-G c.88+2905C>G - IntronicSNV - 1/27 1
7-55090379-T-C c.88+3321T>C - IntronicSNV - 1/27 2
7-55094263-T-C c.88+7205T>C - IntronicSNV - 1/27 1
7-55095197-A-G c.88+8139A>G - IntronicSNV - 1/27 17
7-55097774-A-G c.88+10716A>G - IntronicSNV - 1/27 1
7-55101501-G-C c.88+14443G>C - IntronicSNV - 1/27 3
7-55101501-G-T c.88+14443G>T - IntronicSNV - 1/27 3
7-55105320-A-G c.88+18262A>G - IntronicSNV - 1/27 2
7-55109177-A-T c.88+22119A>T - IntronicSNV - 1/27 5
7-55112410-G-A c.88+25352G>A - IntronicSNV - 1/27 1
7-55112410-G-C c.88+25352G>C - IntronicSNV - 1/27 1
7-55112827-G-A c.88+25769G>A - IntronicSNV - 1/27 1
7-55112827-G-C c.88+25769G>C - IntronicSNV - 1/27 1
7-55114316-A-G c.88+27258A>G - IntronicSNV - 1/27 3
7-55116555-T-A c.88+29497T>A - IntronicSNV - 1/27 2
7-55116707-G-A c.88+29649G>A - IntronicSNV - 1/27 1
7-55119501-C-G c.88+32443C>G - IntronicSNV - 1/27 1
7-55122650-G-A c.88+35592G>A - IntronicSNV - 1/27 5
7-55123968-C-A c.88+36910C>A - IntronicSNV - 1/27 3
7-55123968-C-T c.88+36910C>T - IntronicSNV - 1/27 3
7-55124319-G-A c.88+37261G>A - IntronicSNV - 1/27 3
7-55124701-T-A c.88+37643T>A - IntronicSNV - 1/27 1
7-55124701-T-C c.88+37643T>C - IntronicSNV - 1/27 1
7-55128207-A-G c.88+41149A>G - IntronicSNV - 1/27 2
7-55128207-A-T c.88+41149A>T - IntronicSNV - 1/27 2
7-55128731-A-G c.88+41673A>G - IntronicSNV - 1/27 1
7-55132080-C-T c.88+45022C>T - IntronicSNV - 1/27 2
7-55134819-A-G c.88+47761A>G - IntronicSNV - 1/27 1
7-55134872-A-G c.88+47814A>G - IntronicSNV - 1/27 13
7-55137888-G-A c.88+50830G>A - IntronicSNV - 1/27 1
7-55138388-C-T c.88+51330C>T - IntronicSNV - 1/27 3
7-55140296-C-T c.88+53238C>T - IntronicSNV - 1/27 3
7-55140398-T-C c.88+53340T>C - IntronicSNV - 1/27 1
7-55140786-G-A c.88+53728G>A - IntronicSNV - 1/27 3
7-55141317-T-C c.88+54259T>C - IntronicSNV - 1/27 9
7-55141540-T-C c.88+54482T>C - IntronicSNV - 1/27 2
7-55142435-G-A c.88+55377G>A - IntronicSNV - 1/27 1
7-55142654-A-G c.88+55596A>G - IntronicSNV - 1/27 1
7-55144156-T-A c.88+57098T>A - IntronicSNV - 1/27 3
7-55144156-T-C c.88+57098T>C - IntronicSNV - 1/27 3
7-55144430-A-G c.88+57372A>G - IntronicSNV - 1/27 3
7-55144833-C-T c.88+57775C>T - IntronicSNV - 1/27 4
7-55145334-G-A c.88+58276G>A - IntronicSNV - 1/27 1
7-55145334-G-C c.88+58276G>C - IntronicSNV - 1/27 1
7-55145382-C-T c.88+58324C>T - IntronicSNV - 1/27 1
7-55147478-G-A c.88+60420G>A - IntronicSNV - 1/27 2
7-55148715-G-C c.89-61264G>C - IntronicSNV - 1/27 1
7-55150822-A-T c.89-59157A>T - IntronicSNV - 1/27 4
7-55151537-T-C c.89-58442T>C - IntronicSNV - 1/27 4
7-55151886-G-C c.89-58093G>C - IntronicSNV - 1/27 4
7-55151886-G-T c.89-58093G>T - IntronicSNV - 1/27 4
7-55152337-G-A c.89-57642G>A - IntronicSNV - 1/27 1
7-55152667-G-A c.89-57312G>A - IntronicSNV - 1/27 2
7-55153164-T-C c.89-56815T>C - IntronicSNV - 1/27 2
7-55153237-G-A c.89-56742G>A - IntronicSNV - 1/27 1
7-55154381-G-A c.89-55598G>A - IntronicSNV - 1/27 3
7-55154586-G-A c.89-55393G>A - IntronicSNV - 1/27 2
7-55154586-G-C c.89-55393G>C - IntronicSNV - 1/27 2
7-55154636-T-C c.89-55343T>C - IntronicSNV - 1/27 2
7-55154688-A-C c.89-55291A>C - IntronicSNV - 1/27 5
7-55154688-A-T c.89-55291A>T - IntronicSNV - 1/27 5
7-55155372-C-T c.89-54607C>T - IntronicSNV - 1/27 1
7-55155988-G-A c.89-53991G>A - IntronicSNV - 1/27 1
7-55155988-G-C c.89-53991G>C - IntronicSNV - 1/27 1
7-55156071-G-A c.89-53908G>A - IntronicSNV - 1/27 6
7-55156419-T-A c.89-53560T>A - IntronicSNV - 1/27 3
7-55159349-A-G c.89-50630A>G - IntronicSNV - 1/27 38
7-55159349-A-T c.89-50630A>T - IntronicSNV - 1/27 38
7-55160538-A-G c.89-49441A>G - IntronicSNV - 1/27 2
7-55160995-T-A c.89-48984T>A - IntronicSNV - 1/27 1
7-55160995-T-C c.89-48984T>C - IntronicSNV - 1/27 1
7-55161043-G-A c.89-48936G>A - IntronicSNV - 1/27 4
7-55161043-G-C c.89-48936G>C - IntronicSNV - 1/27 4
7-55161043-G-T c.89-48936G>T - IntronicSNV - 1/27 4
7-55161156-G-A c.89-48823G>A - IntronicSNV - 1/27 1
7-55161746-T-C c.89-48233T>C - IntronicSNV - 1/27 3
7-55162011-C-T c.89-47968C>T - IntronicSNV - 1/27 6
7-55162305-A-G c.89-47674A>G - IntronicSNV - 1/27 1
7-55162336-T-C c.89-47643T>C - IntronicSNV - 1/27 7
7-55163255-T-C c.89-46724T>C - IntronicSNV - 1/27 1
7-55163737-C-G c.89-46242C>G - IntronicSNV - 1/27 2
7-55163737-C-T c.89-46242C>T - IntronicSNV - 1/27 2
7-55163867-G-A c.89-46112G>A - IntronicSNV - 1/27 1
7-55168193-A-G c.89-41786A>G - IntronicSNV - 1/27 1
7-55168692-A-G c.89-41287A>G - IntronicSNV - 1/27 7
7-55168912-C-T c.89-41067C>T - IntronicSNV - 1/27 1
7-55171190-G-A c.89-38789G>A - IntronicSNV - 1/27 5
7-55171629-A-G c.89-38350A>G - IntronicSNV - 1/27 2
7-55172768-T-C c.89-37211T>C - IntronicSNV - 1/27 2
7-55173675-C-G c.89-36304C>G - IntronicSNV - 1/27 3
7-55173675-C-T c.89-36304C>T - IntronicSNV - 1/27 3
7-55174071-C-G c.89-35908C>G - IntronicSNV - 1/27 1
7-55174342-C-A c.89-35637C>A - IntronicSNV - 1/27 3
7-55175876-A-G c.89-34103A>G - IntronicSNV - 1/27 1
7-55177869-C-T c.89-32110C>T - IntronicSNV - 1/27 3
7-55178579-T-G c.89-31400T>G - IntronicSNV - 1/27 2
7-55179209-G-A c.89-30770G>A - IntronicSNV - 1/27 1
7-55179209-G-T c.89-30770G>T - IntronicSNV - 1/27 1
7-55179400-T-G c.89-30579T>G - IntronicSNV - 1/27 1
7-55179844-G-A c.89-30135G>A - IntronicSNV - 1/27 1
7-55179844-G-T c.89-30135G>T - IntronicSNV - 1/27 1
7-55180110-C-A c.89-29869C>A - IntronicSNV - 1/27 1
7-55181442-G-A c.89-28537G>A - IntronicSNV - 1/27 2
7-55181442-G-T c.89-28537G>T - IntronicSNV - 1/27 2
7-55185890-C-T c.89-24089C>T - IntronicSNV - 1/27 3
7-55187992-G-A c.89-21987G>A - IntronicSNV - 1/27 8
7-55189215-G-T c.89-20764G>T - IntronicSNV - 1/27 1
7-55192256-A-C c.89-17723A>C - IntronicSNV - 1/27 6
7-55192963-T-G c.89-17016T>G - IntronicSNV - 1/27 8
7-55195344-A-T c.89-14635A>T - IntronicSNV - 1/27 2
7-55195625-G-A c.89-14354G>A - IntronicSNV - 1/27 5
7-55197390-C-T c.89-12589C>T - IntronicSNV - 1/27 1
7-55200512-G-A c.89-9467G>A - IntronicSNV - 1/27 3
7-55200512-G-T c.89-9467G>T - IntronicSNV - 1/27 3
7-55201776-G-A c.89-8203G>A - IntronicSNV - 1/27 1
7-55201776-G-C c.89-8203G>C - IntronicSNV - 1/27 1
7-55202598-G-A c.89-7381G>A - IntronicSNV - 1/27 2
7-55203838-G-A c.89-6141G>A - IntronicSNV - 1/27 1
7-55203838-G-C c.89-6141G>C - IntronicSNV - 1/27 1
7-55205930-A-T c.89-4049A>T - IntronicSNV - 1/27 2
7-55209637-C-A c.89-342C>A - IntronicSNV - 1/27 5
7-55209979-T-C c.89T>C p.V30A Missense 2/28 - 2
7-55209979-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G c.89_147del p.V30Efs*8 Unclassified 2/28 - 3
7-55209981-TTGC-T c.91_93del p.C31del InFrameDeletion 2/28 - 1
7-55209981-TTGCCAAGGCACGAGTAACAAG-T c.91_111del p.C31_K37del InFrameDeletion 2/28 - 1
7-55209981-TG-AC c.91_92delinsAC p.C31T Missense 2/28 - 1
7-55209981-TGC-GAG c.91_93delinsGAG p.C31E Missense 2/28 - 2
7-55209981-T-A c.91T>A p.C31S Missense 2/28 - 1
7-55209982-G-C c.92G>C p.C31S Missense 2/28 - 1
7-55209982-TG-T c.92del p.C31Sfs*49 Frameshift 2/28 - 1
7-55209983-C-T c.93C>T p.C31= Synonymous 2/28 - 1
7-55209984-CAA-AAC c.94_96delinsAAC p.Q32N Missense 2/28 - 1
7-55209984-CA-GC c.94_95delinsGC p.Q32A Missense 2/28 - 1
7-55209985-A-G c.95A>G p.Q32R Missense 2/28 - 1
7-55209987-G-A c.97G>A p.G33S Missense 2/28 - 4
7-55209987-GGC-AAG c.97_99delinsAAG p.G33K Missense 2/28 - 2
7-55209987-GG-AA c.97_98delinsAA p.G33N Missense 2/28 - 1
7-55209988-G-A c.98G>A p.G33D Missense 2/28 - 3
7-55209990-A-G c.100A>G p.T34A Missense 2/28 - 9
7-55209990-ACG-TGT c.100_102delinsTGT p.T34C Missense 2/28 - 1
7-55209991-CG-AC c.101_102delinsAC p.T34N Missense 2/28 - 4
7-55209991-C-T c.101C>T p.T34M Missense 2/28 - 1
7-55209991-C-G c.101C>G p.T34R Missense 2/28 - 1
7-55209993-AG-GC c.103_104delinsGC p.S35A Missense 2/28 - 4
7-55209993-AG-GA c.103_104delinsGA p.S35D Missense 2/28 - 2
7-55209993-A-T c.103A>T p.S35C Missense 2/28 - 1
7-55209994-G-A c.104G>A p.S35N Missense 2/28 - 2
7-55209996-AAC-CAA c.106_108delinsCAA p.N36Q Missense 2/28 - 1
7-55210000-AG-TC c.110_111delinsTC p.K37I Missense 2/28 - 1
7-55210000-A-T c.110A>T p.K37M Missense 2/28 - 2
7-55210000-A-G c.110A>G p.K37R Missense 2/28 - 1
7-55210002-CT-GA c.112_113delinsGA p.L38D Missense 2/28 - 1
7-55210002-C-T c.112C>T p.L38F Missense 2/28 - 1
7-55210005-A-G c.115A>G p.T39A Missense 2/28 - 1
7-55210006-CG-AC c.116_117delinsAC p.T39N Missense 2/28 - 2
7-55210006-C-T c.116C>T p.T39M Missense 2/28 - 2
7-55210008-C-A c.118C>A p.Q40K Missense 2/28 - 1
7-55210009-A-C c.119A>C p.Q40P Missense 2/28 - 4
7-55210010-AG-A c.120del p.Q40Hfs*40 Frameshift 2/28 - 1
7-55210010-G-T c.120G>T p.Q40H Missense 2/28 - 1
7-55210010-G-C c.120G>C p.Q40H Missense 2/28 - 1
7-55210011-TT-GA c.121_122delinsGA p.L41E Missense 2/28 - 1
7-55210012-T-G c.122T>G p.L41W Missense 2/28 - 1
7-55210014-GGC-TGG c.124_126delinsTGG p.G42W Missense 2/28 - 2
7-55210015-G-A c.125G>A p.G42D Missense 2/28 - 1
7-55210015-G-T c.125G>T p.G42V Missense 2/28 - 1
7-55210017-AC-GA c.127_128delinsGA p.T43D Missense 2/28 - 1
7-55210017-A-G c.127A>G p.T43A Missense 2/28 - 1
7-55210020-TT-GA c.130_131delinsGA p.F44D Missense 2/28 - 1
7-55210020-TTT-GAG c.130_132delinsGAG p.F44E Missense 2/28 - 1
7-55210020-TT-GC c.130_131delinsGC p.F44A Missense 2/28 - 1
7-55210021-T-G c.131T>G p.F44C Missense 2/28 - 1
7-55210022-T-C c.132T>C p.F44= Synonymous 2/28 - 1
7-55210023-G-A c.133G>A p.E45K Missense 2/28 - 1
7-55210024-A-C c.134A>C p.E45A Missense 2/28 - 1
7-55210026-G-A c.136G>A p.D46N Missense 2/28 - 4
7-55210026-GA-AC c.136_137delinsAC p.D46T Missense 2/28 - 1
7-55210026-GA-TG c.136_137delinsTG p.D46C Missense 2/28 - 1
7-55210026-G-T c.136G>T p.D46Y Missense 2/28 - 1
7-55210028-T-G c.138T>G p.D46E Missense 2/28 - 1
7-55210028-T-A c.138T>A p.D46E Missense 2/28 - 1
7-55210028-T-C c.138T>C p.D46= Synonymous 2/28 - 2
7-55210029-C-T c.139C>T p.H47Y Missense 2/28 - 2
7-55210029-CA-TG c.139_140inv p.H47C Missense 2/28 - 1
7-55210030-A-G c.140A>G p.H47R Missense 2/28 - 2
7-55210032-TT-GC c.142_143delinsGC p.F48A Missense 2/28 - 1
7-55210032-TTT-CAA c.142_144delinsCAA p.F48Q Missense 2/28 - 1
7-55210032-TT-GA c.142_143delinsGA p.F48D Missense 2/28 - 1
7-55210033-T-A c.143T>A p.F48Y Missense 2/28 - 1
7-55210035-C-T c.145C>T p.L49F Missense 2/28 - 1
7-55210038-AGC-GAG c.148_150delinsGAG p.S50E Missense 2/28 - 1
7-55210038-AG-GC c.148_149delinsGC p.S50A Missense 2/28 - 1
7-55210038-AG-CC c.148_149delinsCC p.S50P Missense 2/28 - 1
7-55210039-GC-AG c.149_150delinsAG p.S50K Missense 2/28 - 2
7-55210039-G-A c.149G>A p.S50N Missense 2/28 - 1
7-55210040-C-G c.150C>G p.S50R Missense 2/28 - 1
7-55210040-C-A c.150C>A p.S50R Missense 2/28 - 1
7-55210038-A-C c.148A>C p.S50R Missense 2/28 - 1
7-55210042-T-C c.152T>C p.L51P Missense 2/28 - 1
7-55210044-C-T c.154C>T p.Q52* Nonsense 2/28 - 1
7-55210047-AG-CA c.157_158delinsCA p.R53Q Missense 2/28 - 1
7-55210049-G-C c.159G>C p.R53S Missense 2/28 - 1
7-55210049-G-T c.159G>T p.R53S Missense 2/28 - 2
7-55210050-AT-GG c.160_161delinsGG p.M54G Missense 2/28 - 1
7-55210051-TG-GC c.161_162delinsGC p.M54S Missense 2/28 - 1
7-55210052-G-C c.162G>C p.M54I Missense 2/28 - 1
7-55210052-G-A c.162G>A p.M54I Missense 2/28 - 1
7-55210052-G-T c.162G>T p.M54I Missense 2/28 - 1
7-55210053-TT-GA c.163_164delinsGA p.F55D Missense 2/28 - 1
7-55210053-TT-GC c.163_164delinsGC p.F55A Missense 2/28 - 1
7-55210052-GT-G c.164del p.F55Sfs*25 Frameshift 2/28 - 1
7-55210054-T-G c.164T>G p.F55C Missense 2/28 - 2
7-55210055-C-CT c.165_166insT p.N56* Nonsense 2/28 - 1
7-55210058-T-G c.168T>G p.N56K Missense 2/28 - 4
7-55210058-T-A c.168T>A p.N56K Missense 2/28 - 4
7-55210061-C-T c.171C>T p.N57= Synonymous 2/28 - 1
7-55210062-T-A c.172T>A p.C58S Missense 2/28 - 1
7-55210063-G-C c.173G>C p.C58S Missense 2/28 - 1
7-55210062-TG-GA c.172_173delinsGA p.C58D Missense 2/28 - 2
7-55210062-TG-GC c.172_173delinsGC p.C58A Missense 2/28 - 3
7-55210062-TGT-GAG c.172_174delinsGAG p.C58E Missense 2/28 - 1
7-55210064-T-C c.174T>C p.C58= Synonymous 2/28 - 2
7-55210065-G-A c.175G>A p.E59K Missense 2/28 - 1
7-55210067-G-C c.177G>C p.E59D Missense 2/28 - 1
7-55210067-G-T c.177G>T p.E59D Missense 2/28 - 1
7-55210069-T-A c.179T>A p.V60E Missense 2/28 - 1
7-55210071-G-T c.181G>T p.V61F Missense 2/28 - 1
7-55210072-T-C c.182T>C p.V61A Missense 2/28 - 1
7-55210074-C-T c.184C>T p.L62F Missense 2/28 - 1
7-55210075-T-G c.185T>G p.L62R Missense 2/28 - 25
7-55210075-T-C c.185T>C p.L62P Missense 2/28 - 1
7-55210077-G-A c.187G>A p.G63R Missense 2/28 - 5
7-55210077-G-C c.187G>C p.G63R Missense 2/28 - 6
7-55210077-GG-AA c.187_188delinsAA p.G63K Missense 2/28 - 1
7-55210078-G-A c.188G>A p.G63E Missense 2/28 - 1
7-55210081-A-C c.191A>C p.N64T Missense 2/28 - 1
7-55210083-TTG-CAT c.193_195delinsCAT p.L65H Missense 2/28 - 1
7-55210083-TT-AC c.193_194delinsAC p.L65T Missense 2/28 - 1
7-55210083-TT-GC c.193_194delinsGC p.L65A Missense 2/28 - 1
7-55210084-T-C c.194T>C p.L65S Missense 2/28 - 1
7-55210086-G-A c.196G>A p.E66K Missense 2/28 - 1
7-55210087-A-C c.197A>C p.E66A Missense 2/28 - 2
7-55210088-A-G c.198A>G p.E66= Synonymous 2/28 - 1
7-55210091-T-C c.201T>C p.I67= Synonymous 2/28 - 3
7-55210091-T-A c.201T>A p.I67= Synonymous 2/28 - 3
7-55210092-AC-TT c.202_203delinsTT p.T68F Missense 2/28 - 2
7-55210092-ACC-GAG c.202_204delinsGAG p.T68E Missense 2/28 - 1
7-55210093-C-T c.203C>T p.T68I Missense 2/28 - 2
7-55210093-CC-TG c.203_204delinsTG p.T68M Missense 2/28 - 1
7-55210094-C-A c.204C>A p.T68= Synonymous 2/28 - 1
7-55210098-G-C c.208G>C p.V70L Missense 2/28 - 1
7-55210098-G-T c.208G>T p.V70L Missense 2/28 - 1
7-55210098-GTG-TTT c.208_210delinsTTT p.V70F Missense 2/28 - 1
7-55210098-GTG-TGT c.208_210delinsTGT p.V70C Missense 2/28 - 1
7-55210099-T-C c.209T>C p.V70A Missense 2/28 - 2
7-55210102-A-T c.212A>T p.Q71L Missense 2/28 - 9
7-55210103-G-C c.213G>C p.Q71H Missense 2/28 - 1
7-55210104-AG-CC c.214_215delinsCC p.R72P Missense 2/28 - 31
7-55210104-AG-GC c.214_215delinsGC p.R72A Missense 2/28 - 2
7-55210105-G-C c.215G>C p.R72T Missense 2/28 - 2
7-55210110-TA-GC c.220_221delinsGC p.Y74A Missense 2/28 - 1
7-55210111-A-G c.221A>G p.Y74C Missense 2/28 - 1
7-55210112-T-C c.222T>C p.Y74= Synonymous 2/28 - 2
7-55210113-GA-TT c.223_224delinsTT p.D75F Missense 2/28 - 1
7-55210115-T-C c.225T>C p.D75= Synonymous 2/28 - 2
7-55210116-C-G c.226C>G p.L76V Missense 2/28 - 2
7-55210117-T-C c.227T>C p.L76P Missense 2/28 - 1
7-55210119-T-G c.229T>G p.S77A Missense 2/28 - 1
7-55210120-C-T c.230C>T p.S77F Missense 2/28 - 1
7-55210122-TTC-GAG c.232_234delinsGAG p.F78E Missense 2/28 - 1
7-55210124-C-G c.234C>G p.F78L Missense 2/28 - 1
7-55210124-C-T c.234C>T p.F78= Synonymous 2/28 - 1
7-55210125-T-C c.235T>C p.L79= Synonymous 2/28 - 1
7-55210125-T-G c.235T>G p.L79V Missense 2/28 - 1
7-55210126-T-A c.236T>A p.L79* Nonsense 2/28 - 1
7-55210126-T-G c.236T>G p.L79* Nonsense 2/28 - 1
7-55210128-AA-GC c.238_239delinsGC p.K80A Missense 2/28 - 1
7-55210129-A-C c.239A>C p.K80T Missense 2/28 - 1
7-55210129-A-G c.239A>G p.K80R Missense 2/28 - 1
7-55210998-AC-TG c.241_242delinsTG p.T81C Missense 3/28 - 1
7-55210998-AC-GA c.241_242delinsGA p.T81D Missense 3/28 - 1
7-55211001-AT-GC c.244_245delinsGC p.I82A Missense 3/28 - 1
7-55211004-C-T c.247C>T p.Q83* Nonsense 3/28 - 1
7-55211007-G-A c.250G>A p.E84K Missense 3/28 - 1
7-55211008-A-T c.251A>T p.E84V Missense 3/28 - 4
7-55211008-A-C c.251A>C p.E84A Missense 3/28 - 1
7-55211013-G-A c.256G>A p.A86T Missense 3/28 - 1
7-55211013-GC-TT c.256_257delinsTT p.A86F Missense 3/28 - 2
7-55211013-GCT-ATG c.256_258delinsATG p.A86M Missense 3/28 - 1
7-55211013-GCT-TAA c.256_258delinsTAA p.A86* Nonsense 3/28 - 1
7-55211013-GCT-AAG c.256_258delinsAAG p.A86K Missense 3/28 - 1
7-55211014-C-A c.257C>A p.A86D Missense 3/28 - 3
7-55211014-CT-AG c.257_258inv p.A86E Missense 3/28 - 3
7-55211015-T-C c.258T>C p.A86= Synonymous 3/28 - 1
7-55211015-T-A c.258T>A p.A86= Synonymous 3/28 - 1
7-55211015-T-G c.258T>G p.A86= Synonymous 3/28 - 1
7-55211017-G-T c.260G>T p.G87V Missense 3/28 - 1
7-55211019-TA-GC c.262_263delinsGC p.Y88A Missense 3/28 - 1
7-55211020-A-G c.263A>G p.Y88C Missense 3/28 - 4
7-55211022-G-C c.265G>C p.V89L Missense 3/28 - 3
7-55211022-GTC-ATG c.265_267delinsATG p.V89M Missense 3/28 - 2
7-55211025-CTC-ATG c.268_270delinsATG p.L90M Missense 3/28 - 1
7-55211025-C-T c.268C>T p.L90F Missense 3/28 - 3
7-55211026-T-A c.269T>A p.L90H Missense 3/28 - 1
7-55211031-G-A c.274G>A p.A92T Missense 3/28 - 1
7-55211031-GC-TT c.274_275delinsTT p.A92F Missense 3/28 - 3
7-55211031-GC-TG c.274_275delinsTG p.A92C Missense 3/28 - 1
7-55211032-CC-AG c.275_276delinsAG p.A92E Missense 3/28 - 3
7-55211032-C-A c.275C>A p.A92D Missense 3/28 - 4
7-55211032-C-T c.275C>T p.A92V Missense 3/28 - 1
7-55211033-C-A c.276C>A p.A92= Synonymous 3/28 - 2
7-55211033-C-G c.276C>G p.A92= Synonymous 3/28 - 2
7-55211033-C-T c.276C>T p.A92= Synonymous 3/28 - 2
7-55211034-C-A c.277C>A p.L93I Missense 3/28 - 1
7-55211035-CT-C c.278del p.L93Pfs*27 Frameshift 3/28 - 1
7-55211035-T-G c.278T>G p.L93R Missense 3/28 - 1
7-55211038-A-G c.281A>G p.N94S Missense 3/28 - 1
7-55211040-A-G c.283A>G p.T95A Missense 3/28 - 1
7-55211040-A-C c.283A>C p.T95P Missense 3/28 - 1
7-55211041-C-T c.284C>T p.T95I Missense 3/28 - 3
7-55211041-CA-TG c.284_285inv p.T95M Missense 3/28 - 1
7-55211043-GTG-ATC c.286_288delinsATC p.V96I Missense 3/28 - 1
7-55211043-GT-AC c.286_287inv p.V96T Missense 3/28 - 1
7-55211043-G-A c.286G>A p.V96M Missense 3/28 - 1
7-55211044-T-C c.287T>C p.V96A Missense 3/28 - 1
7-55211046-G-A c.289G>A p.E97K Missense 3/28 - 1
7-55211046-G-C c.289G>C p.E97Q Missense 3/28 - 1
7-55211046-GAG-TTT c.289_291delinsTTT p.E97F Missense 3/28 - 1
7-55211047-A-C c.290A>C p.E97A Missense 3/28 - 1
7-55211048-G-C c.291G>C p.E97D Missense 3/28 - 1
7-55211048-G-T c.291G>T p.E97D Missense 3/28 - 1
7-55211049-CGA-TGG c.292_294delinsTGG p.R98W Missense 3/28 - 1
7-55211049-C-T c.292C>T p.R98* Nonsense 3/28 - 4
7-55211049-CGA-TGT c.292_294delinsTGT p.R98C Missense 3/28 - 1
7-55211049-C-A c.292C>A p.R98= Synonymous 3/28 - 1
7-55211051-A-C c.294A>C p.R98= Synonymous 3/28 - 1
7-55211051-A-G c.294A>G p.R98= Synonymous 3/28 - 1
7-55211051-A-T c.294A>T p.R98= Synonymous 3/28 - 1
7-55211050-G-A c.293G>A p.R98Q Missense 3/28 - 6
7-55211050-G-T c.293G>T p.R98L Missense 3/28 - 2
7-55211055-C-G c.298C>G p.P100A Missense 3/28 - 4
7-55211055-C-T c.298C>T p.P100S Missense 3/28 - 2
7-55211055-C-A c.298C>A p.P100T Missense 3/28 - 1
7-55211055-CCT-AAG c.298_300delinsAAG p.P100K Missense 3/28 - 1
7-55211056-C-T c.299C>T p.P100L Missense 3/28 - 1
7-55211057-T-C c.300T>C p.P100= Synonymous 3/28 - 1
7-55211057-T-G c.300T>G p.P100= Synonymous 3/28 - 1
7-55211059-TG-GT c.302_303delinsGT p.L101C Missense 3/28 - 1
7-55211060-G-T c.303G>T p.L101F Missense 3/28 - 1
7-55211060-G-C c.303G>C p.L101F Missense 3/28 - 1
7-55211062-A-C c.305A>C p.E102A Missense 3/28 - 1
7-55211064-AA-GC c.307_308delinsGC p.N103A Missense 3/28 - 1
7-55211067-C-G c.310C>G p.L104V Missense 3/28 - 1
7-55211067-CT-GA c.310_311delinsGA p.L104E Missense 3/28 - 1
7-55211067-C-T c.310C>T p.L104= Synonymous 3/28 - 1
7-55211068-T-G c.311T>G p.L104R Missense 3/28 - 1
7-55211068-T-A c.311T>A p.L104Q Missense 3/28 - 1
7-55211070-CAG-GAC c.313_315delinsGAC p.Q105D Missense 3/28 - 1
7-55211070-CAG-TGT c.313_315delinsTGT p.Q105C Missense 3/28 - 1
7-55211070-C-A c.313C>A p.Q105K Missense 3/28 - 2
7-55211076-A-G c.319A>G p.I107V Missense 3/28 - 2
7-55211076-A-T c.319A>T p.I107F Missense 3/28 - 1
7-55211079-A-G c.322A>G p.R108G Missense 3/28 - 8
7-55211079-AGA-CAT c.322_324delinsCAT p.R108H Missense 3/28 - 2
7-55211080-G-A c.323G>A p.R108K Missense 3/28 - 79
7-55211083-G-C c.326G>C p.G109A Missense 3/28 - 1
7-55211083-G-A c.326G>A p.G109E Missense 3/28 - 1
7-55211091-TAC-GAG c.334_336delinsGAG p.Y112E Missense 3/28 - 1
7-55211092-A-G c.335A>G p.Y112C Missense 3/28 - 1
7-55211092-A-T c.335A>T p.Y112F Missense 3/28 - 2
7-55211092-A-C c.335A>C p.Y112S Missense 3/28 - 1
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T c.339_397del p.Y113* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/28 - 1
7-55211095-A-T c.338A>T p.Y113F Missense 3/28 - 1
7-55211096-C-T c.339C>T p.Y113= Synonymous 3/28 - 2
7-55211097-G-A c.340G>A p.E114K Missense 3/28 - 15
7-55211097-G-C c.340G>C p.E114Q Missense 3/28 - 1
7-55211098-A-T c.341A>T p.E114V Missense 3/28 - 1
7-55211101-A-T c.344A>T p.N115I Missense 3/28 - 1
7-55211101-A-C c.344A>C p.N115T Missense 3/28 - 1
7-55211102-T-A c.345T>A p.N115K Missense 3/28 - 1
7-55211103-TC-GA c.346_347inv p.S116D Missense 3/28 - 1
7-55211103-T-G c.346T>G p.S116A Missense 3/28 - 1
7-55211104-C-T c.347C>T p.S116F Missense 3/28 - 3
7-55211106-TA-CT c.349_350delinsCT p.Y117L Missense 3/28 - 1
7-55211106-T-G c.349T>G p.Y117D Missense 3/28 - 1
7-55211107-A-G c.350A>G p.Y117C Missense 3/28 - 2
7-55211107-A-T c.350A>T p.Y117F Missense 3/28 - 1
7-55211109-G-C c.352G>C p.A118P Missense 3/28 - 1
7-55211110-C-G c.353C>G p.A118G Missense 3/28 - 4
7-55211110-C-T c.353C>T p.A118V Missense 3/28 - 2
7-55211112-TTA-ATG c.355_357delinsATG p.L119M Missense 3/28 - 1
7-55211113-T-C c.356T>C p.L119S Missense 3/28 - 1
7-55211115-G-C c.358G>C p.A120P Missense 3/28 - 1
7-55211116-C-A c.359C>A p.A120E Missense 3/28 - 1
7-55211118-G-T c.361G>T p.V121F Missense 3/28 - 1
7-55211121-TTATC-T c.367_370del p.S123Tfs*9 Frameshift 3/28 - 1
7-55211124-T-G c.367T>G p.S123A Missense 3/28 - 3
7-55211125-C-T c.368C>T p.S123F Missense 3/28 - 1
7-55211125-C-CTGA c.369_370insGAT p.S123_N124insD InFrameInsertion 3/28 - 1
7-55211129-C-G c.372C>G p.N124K Missense 3/28 - 2
7-55211129-C-A c.372C>A p.N124K Missense 3/28 - 2
7-55211131-A-G c.374A>G p.Y125C Missense 3/28 - 2
7-55211136-G-A c.379G>A p.A127T Missense 3/28 - 3
7-55211137-C-T c.380C>T p.A127V Missense 3/28 - 1
7-55211139-A-G c.382A>G p.N128D Missense 3/28 - 1
7-55211142-AA-GC c.385_386delinsGC p.K129A Missense 3/28 - 2
7-55211142-A-G c.385A>G p.K129E Missense 3/28 - 2
7-55211143-A-G c.386A>G p.K129R Missense 3/28 - 1
7-55211143-AA-TG c.386_387delinsTG p.K129M Missense 3/28 - 1
7-55211147-C-G c.390C>G p.T130= Synonymous 3/28 - 1
7-55211148-G-A c.391G>A p.G131R Missense 3/28 - 4
7-55211148-G-C c.391G>C p.G131R Missense 3/28 - 1
7-55211151-CT-GC c.394_395delinsGC p.L132A Missense 3/28 - 1
7-55211151-CTG-TGT c.394_396delinsTGT p.L132C Missense 3/28 - 1
7-55211154-AA-GC c.397_398delinsGC p.K133A Missense 3/28 - 5
7-55211157-G-A c.400G>A p.E134K Missense 3/28 - 1
7-55211160-CTG-TAT c.403_405delinsTAT p.L135Y Missense 3/28 - 2
7-55211163-C-A c.406C>A p.P136T Missense 3/28 - 1
7-55211164-C-T c.407C>T p.P136L Missense 3/28 - 1
7-55211166-A-G c.409A>G p.M137V Missense 3/28 - 1
7-55211167-T-G c.410T>G p.M137R Missense 3/28 - 2
7-55211168-G-C c.411G>C p.M137I Missense 3/28 - 2
7-55211168-G-A c.411G>A p.M137I Missense 3/28 - 2
7-55211168-G-T c.411G>T p.M137I Missense 3/28 - 2
7-55211169-AGA-TGG c.412_414delinsTGG p.R138W Missense 3/28 - 1
7-55211169-A-T c.412A>T p.R138* Nonsense 3/28 - 1
7-55211169-AG-GT c.412_413delinsGT p.R138V Missense 3/28 - 1
7-55211170-G-T c.413G>T p.R138I Missense 3/28 - 1
7-55211170-G-A c.413G>A p.R138K Missense 3/28 - 1
7-55211178-C-T c.421C>T p.Q141* Nonsense 3/28 - 3
7-55211178-CA-AC c.421_422delinsAC p.Q141T Missense 3/28 - 1
7-55211181-G-T c.424G>T p.E142* Nonsense 3/28 - 2
7-55211316-G-A c.424+135G>A - IntronicSNV - 3/27 1
7-55211879-A-G c.424+698A>G - IntronicSNV - 3/27 2
7-55214304-CT-GC c.430_431delinsGC p.L144A Missense 4/28 - 1
7-55214304-C-T c.430C>T p.L144= Synonymous 4/28 - 1
7-55214308-A-G c.434A>G p.H145R Missense 4/28 - 1
7-55214310-GG-CC c.436_437inv p.G146P Missense 4/28 - 1
7-55214311-G-T c.437G>T p.G146V Missense 4/28 - 1
7-55214313-G-C c.439G>C p.A147P Missense 4/28 - 1
7-55214313-G-A c.439G>A p.A147T Missense 4/28 - 1
7-55214314-C-A c.440C>A p.A147D Missense 4/28 - 1
7-55214315-C-A c.441C>A p.A147= Synonymous 4/28 - 1
7-55214315-C-G c.441C>G p.A147= Synonymous 4/28 - 1
7-55214315-C-T c.441C>T p.A147= Synonymous 4/28 - 1
7-55214316-G-A c.442G>A p.V148M Missense 4/28 - 1
7-55214319-C-T c.445C>T p.R149W Missense 4/28 - 4
7-55214320-G-A c.446G>A p.R149Q Missense 4/28 - 2
7-55214324-C-T c.450C>T p.F150= Synonymous 4/28 - 1
7-55214325-AG-GC c.451_452delinsGC p.S151A Missense 4/28 - 3
7-55214325-AG-GA c.451_452delinsGA p.S151D Missense 4/28 - 1
7-55214330-C-G c.456C>G p.N152K Missense 4/28 - 1
7-55214338-C-T c.464C>T p.A155V Missense 4/28 - 1
7-55214340-CT-GC c.466_467delinsGC p.L156A Missense 4/28 - 1
7-55214344-G-C c.470G>C p.C157S Missense 4/28 - 1
7-55214343-T-A c.469T>A p.C157S Missense 4/28 - 1
7-55214343-TG-AC c.469_470delinsAC p.C157T Missense 4/28 - 1
7-55214344-G-A c.470G>A p.C157Y Missense 4/28 - 1
7-55214346-AA-GG c.472_473delinsGG p.N158G Missense 4/28 - 1
7-55214346-A-G c.472A>G p.N158D Missense 4/28 - 1
7-55214347-A-G c.473A>G p.N158S Missense 4/28 - 1
7-55214348-C-T c.474C>T p.N158= Synonymous 4/28 - 24
7-55214348-CG-TC c.474_475delinsTC p.V159L Missense 4/28 - 1
7-55214350-T-A c.476T>A p.V159E Missense 4/28 - 1
7-55214352-GAG-TGT c.478_480delinsTGT p.E160C Missense 4/28 - 1
7-55214352-G-T c.478G>T p.E160* Nonsense 4/28 - 1
7-55214354-G-A c.480G>A p.E160= Synonymous 4/28 - 1
7-55214358-A-T c.484A>T p.I162F Missense 4/28 - 1
7-55214360-C-G c.486C>G p.I162M Missense 4/28 - 1
7-55214361-CAG-GAC c.487_489delinsGAC p.Q163D Missense 4/28 - 1
7-55214362-A-T c.488A>T p.Q163L Missense 4/28 - 1
7-55214367-CGG-AGC c.493_495delinsAGC p.R165S Missense 4/28 - 3
7-55214367-C-G c.493C>G p.R165G Missense 4/28 - 1
7-55214367-CGG-TGT c.493_495delinsTGT p.R165C Missense 4/28 - 1
7-55214367-CG-GA c.493_494delinsGA p.R165E Missense 4/28 - 1
7-55214367-C-T c.493C>T p.R165W Missense 4/28 - 2
7-55214367-CG-AA c.493_494delinsAA p.R165K Missense 4/28 - 1
7-55214368-GG-AT c.494_495delinsAT p.R165H Missense 4/28 - 1
7-55214368-G-T c.494G>T p.R165L Missense 4/28 - 1
7-55214368-G-A c.494G>A p.R165Q Missense 4/28 - 3
7-55214374-T-C c.500T>C p.I167T Missense 4/28 - 1
7-55214379-AG-CC c.505_506delinsCC p.S169P Missense 4/28 - 1
7-55214379-AG-GC c.505_506delinsGC p.S169A Missense 4/28 - 1
7-55214379-AGC-GAG c.505_507delinsGAG p.S169E Missense 4/28 - 1
7-55214380-G-A c.506G>A p.S169N Missense 4/28 - 1
7-55214383-G-A c.509G>A p.S170N Missense 4/28 - 1
7-55214385-GA-AG c.511_512delinsAG p.D171S Missense 4/28 - 1
7-55214385-G-A c.511G>A p.D171N Missense 4/28 - 1
7-55214387-C-T c.513C>T p.D171= Synonymous 4/28 - 1
7-55214394-AG-GC c.520_521delinsGC p.S174A Missense 4/28 - 1
7-55214394-A-T c.520A>T p.S174C Missense 4/28 - 1
7-55214394-A-C c.520A>C p.S174R Missense 4/28 - 1
7-55214396-C-G c.522C>G p.S174R Missense 4/28 - 1
7-55214396-C-A c.522C>A p.S174R Missense 4/28 - 1
7-55214397-AAC-CAA c.523_525delinsCAA p.N175Q Missense 4/28 - 2
7-55214399-C-G c.525C>G p.N175K Missense 4/28 - 1
7-55214399-C-A c.525C>A p.N175K Missense 4/28 - 1
7-55214403-GT-G c.529del p.S177Rfs*34 Frameshift 4/28 - 1
7-55214403-TC-GA c.529_530inv p.S177E Missense 4/28 - 1
7-55214403-T-G c.529T>G p.S177A Missense 4/28 - 2
7-55214403-GTCGATGGACTTCCAGAAC-G c.529_546del p.S177_N182del InFrameDeletion 4/28 - 1
7-55214404-C-G c.530C>G p.S177W Missense 4/28 - 1
7-55214404-C-T c.530C>T p.S177L Missense 4/28 - 1
7-55214404-C-A c.530C>A p.S177* Nonsense 4/28 - 1
7-55214405-G-A c.531G>A p.S177= Synonymous 4/28 - 1
7-55214406-A-C c.532A>C p.M178L Missense 4/28 - 1
7-55214406-A-T c.532A>T p.M178L Missense 4/28 - 1
7-55214410-A-G c.536A>G p.D179G Missense 4/28 - 1
7-55214413-T-C c.539T>C p.F180S Missense 4/28 - 1
7-55214415-C-A c.541C>A p.Q181K Missense 4/28 - 2
7-55214415-CA-AC c.541_542delinsAC p.Q181T Missense 4/28 - 1
7-55214416-A-G c.542A>G p.Q181R Missense 4/28 - 1
7-55214417-G-T c.543G>T p.Q181H Missense 4/28 - 1
7-55214417-G-C c.543G>C p.Q181H Missense 4/28 - 1
7-55214418-AAC-CAA c.544_546delinsCAA p.N182Q Missense 4/28 - 3
7-55214422-A-G c.548A>G p.H183R Missense 4/28 - 1
7-55214423-C-A c.549C>A p.H183Q Missense 4/28 - 1
7-55214424-C-G c.550C>G p.L184V Missense 4/28 - 1
7-55214427-G-C c.553G>C p.G185R Missense 4/28 - 1
7-55214430-AG-GC c.556_557delinsGC p.S186A Missense 4/28 - 1
7-55214433-T-C c.559T>C p.C187R Missense 4/28 - 1
7-55214443-G-A c.559+10G>A - IntronicSNV - 4/27 4
7-55214474-T-G c.559+41T>G - IntronicSNV - 4/27 1
7-55214647-G-T c.559+214G>T - IntronicSNV - 4/27 2
7-55215018-A-C c.559+585A>C - IntronicSNV - 4/27 12
7-55215661-C-T c.559+1228C>T - IntronicSNV - 4/27 1
7-55218903-T-C c.560-84T>C - IntronicSNV - 4/27 4
7-55218992-AA-GC c.565_566delinsGC p.K189A Missense 5/28 - 1
7-55218993-A-G c.566A>G p.K189R Missense 5/28 - 1
7-55218994-G-C c.567G>C p.K189N Missense 5/28 - 1
7-55218994-G-T c.567G>T p.K189N Missense 5/28 - 1
7-55218998-G-A c.571G>A p.D191N Missense 5/28 - 1
7-55219001-C-T c.574C>T p.P192S Missense 5/28 - 2
7-55219007-T-A c.580T>A p.C194S Missense 5/28 - 2
7-55219008-G-C c.581G>C p.C194S Missense 5/28 - 2
7-55219007-TG-AC c.580_581delinsAC p.C194T Missense 5/28 - 1
7-55219007-TG-GC c.580_581delinsGC p.C194A Missense 5/28 - 1
7-55219011-C-T c.584C>T p.P195L Missense 5/28 - 1
7-55219013-A-G c.586A>G p.N196D Missense 5/28 - 1
7-55219019-AGC-GAG c.592_594delinsGAG p.S198E Missense 5/28 - 1
7-55219022-T-A c.595T>A p.C199S Missense 5/28 - 2
7-55219023-G-C c.596G>C p.C199S Missense 5/28 - 2
7-55219022-TG-GT c.595_596delinsGT p.C199V Missense 5/28 - 1
7-55219026-G-T c.599G>T p.W200L Missense 5/28 - 1
7-55219032-C-G c.605C>G p.A202G Missense 5/28 - 1
7-55219034-G-A c.607G>A p.G203R Missense 5/28 - 7
7-55219034-G-C c.607G>C p.G203R Missense 5/28 - 7
7-55219034-GG-AC c.607_608delinsAC p.G203T Missense 5/28 - 1
7-55219034-GGA-TGT c.607_609delinsTGT p.G203C Missense 5/28 - 1
7-55219035-G-C c.608G>C p.G203A Missense 5/28 - 1
7-55219035-G-A c.608G>A p.G203E Missense 5/28 - 1
7-55219040-G-A c.613G>A p.E205K Missense 5/28 - 1
7-55219051-G-A c.624G>A p.Q208= Synonymous 5/28 - 1
7-55219056-G-A c.628+1G>A - IntronicSNV - 5/27 1
7-55219056-G-T c.628+1G>T - IntronicSNV - 5/27 1
7-55219159-C-G c.628+104C>G - IntronicSNV - 5/27 6
7-55219159-C-T c.628+104C>T - IntronicSNV - 5/27 7
7-55219290-T-A c.628+235T>A - IntronicSNV - 5/27 1
7-55219290-T-C c.628+235T>C - IntronicSNV - 5/27 1
7-55219307-C-G c.628+252C>G - IntronicSNV - 5/27 1
7-55219611-A-G c.628+556A>G - IntronicSNV - 5/27 3
7-55220177-A-G c.629-62A>G - IntronicSNV - 5/27 7
7-55220239-T-A c.629T>A p.L210Q Missense 6/28 - 1
7-55220242-C-G c.632C>G p.T211S Missense 6/28 - 1
7-55220248-AT-A c.638del p.I213Tfs*67 Frameshift 6/28 - 1
7-55220253-TG-GC c.643_644delinsGC p.C215A Missense 6/28 - 1
7-55220253-T-A c.643T>A p.C215S Missense 6/28 - 2
7-55220254-G-C c.644G>C p.C215S Missense 6/28 - 2
7-55220253-T-G c.643T>G p.C215G Missense 6/28 - 1
7-55220256-G-A c.646G>A p.A216T Missense 6/28 - 1
7-55220257-C-G c.647C>G p.A216G Missense 6/28 - 1
7-55220258-C-G c.648C>G p.A216= Synonymous 6/28 - 1
7-55220258-C-T c.648C>T p.A216= Synonymous 6/28 - 1
7-55220258-C-A c.648C>A p.A216= Synonymous 6/28 - 1
7-55220260-A-C c.650A>C p.Q217P Missense 6/28 - 1
7-55220263-CAGT-C c.653_655del p.Q218_C219delinsR MultiAAMissense 6/28 - 1
7-55220265-T-G c.655T>G p.C219G Missense 6/28 - 1
7-55220265-T-C c.655T>C p.C219R Missense 6/28 - 1
7-55220268-T-C c.658T>C p.S220P Missense 6/28 - 1
7-55220268-TCC-GAG c.658_660delinsGAG p.S220E Missense 6/28 - 2
7-55220269-C-T c.659C>T p.S220F Missense 6/28 - 1
7-55220270-CG-C c.663del p.R222Afs*58 Frameshift 6/28 - 1
7-55220274-C-T c.664C>T p.R222C Missense 6/28 - 22
7-55220274-CG-AA c.664_665delinsAA p.R222N Missense 6/28 - 1
7-55220274-CG-GC c.664_665delinsGC p.R222A Missense 6/28 - 1
7-55220274-CGC-TGA c.664_666delinsTGA p.R222* Nonsense 6/28 - 1
7-55220275-G-A c.665G>A p.R222H Missense 6/28 - 1
7-55220276-C-A c.666C>A p.R222= Synonymous 6/28 - 2
7-55220276-C-G c.666C>G p.R222= Synonymous 6/28 - 2
7-55220276-C-T c.666C>T p.R222= Synonymous 6/28 - 2
7-55220277-TGC-GAG c.667_669delinsGAG p.C223E Missense 6/28 - 2
7-55220277-T-C c.667T>C p.C223R Missense 6/28 - 2
7-55220278-G-A c.668G>A p.C223Y Missense 6/28 - 1
7-55220280-C-T c.670C>T p.R224C Missense 6/28 - 1
7-55220281-G-A c.671G>A p.R224H Missense 6/28 - 1
7-55220281-GT-AA c.671_672delinsAA p.R224Q Missense 6/28 - 1
7-55220284-G-A c.674G>A p.G225D Missense 6/28 - 1
7-55220284-G-T c.674G>T p.G225V Missense 6/28 - 1
7-55220284-G-C c.674G>C p.G225A Missense 6/28 - 1
7-55220289-T-G c.679T>G p.S227A Missense 6/28 - 1
7-55220290-C-T c.680C>T p.S227F Missense 6/28 - 1
7-55220290-C-A c.680C>A p.S227Y Missense 6/28 - 1
7-55220291-C-T c.681C>T p.S227= Synonymous 6/28 - 1
7-55220291-C-G c.681C>G p.S227= Synonymous 6/28 - 1
7-55220291-C-A c.681C>A p.S227= Synonymous 6/28 - 1
7-55220292-C-T c.682C>T p.P228S Missense 6/28 - 2
7-55220292-CCC-GAG c.682_684delinsGAG p.P228E Missense 6/28 - 1
7-55220293-C-G c.683C>G p.P228R Missense 6/28 - 1
7-55220293-C-A c.683C>A p.P228H Missense 6/28 - 1
7-55220295-A-T c.685A>T p.S229C Missense 6/28 - 7
7-55220295-AGT-GAG c.685_687delinsGAG p.S229E Missense 6/28 - 1
7-55220295-AG-CC c.685_686delinsCC p.S229P Missense 6/28 - 1
7-55220295-AG-GA c.685_686delinsGA p.S229D Missense 6/28 - 2
7-55220295-AG-GC c.685_686delinsGC p.S229A Missense 6/28 - 2
7-55220302-G-C c.692G>C p.C231S Missense 6/28 - 1
7-55220302-G-A c.692G>A p.C231Y Missense 6/28 - 1
7-55220307-CAC-ATG c.697_699delinsATG p.H233M Missense 6/28 - 1
7-55220308-A-C c.698A>C p.H233P Missense 6/28 - 1
7-55220311-A-G c.701A>G p.N234S Missense 6/28 - 1
7-55220313-CAG-GAC c.703_705delinsGAC p.Q235D Missense 6/28 - 1
7-55220316-T-C c.706T>C p.C236R Missense 6/28 - 1
7-55220316-TG-GC c.706_707delinsGC p.C236A Missense 6/28 - 1
7-55220317-G-C c.707G>C p.C236S Missense 6/28 - 1
7-55220317-G-T c.707G>T p.C236F Missense 6/28 - 1
7-55220318-T-G c.708T>G p.C236W Missense 6/28 - 1
7-55220319-GC-AA c.709_710delinsAA p.A237N Missense 6/28 - 1
7-55220320-C-T c.710C>T p.A237V Missense 6/28 - 1
7-55220325-GG-AC c.715_716delinsAC p.G239T Missense 6/28 - 1
7-55220326-G-C c.716G>C p.G239A Missense 6/28 - 1
7-55220328-T-C c.718T>C p.C240R Missense 6/28 - 2
7-55220329-G-A c.719G>A p.C240Y Missense 6/28 - 1
7-55220332-C-T c.722C>T p.T241I Missense 6/28 - 1
7-55220332-CA-TG c.722_723inv p.T241M Missense 6/28 - 2
7-55220335-G-A c.725G>A p.G242D Missense 6/28 - 1
7-55220335-G-T c.725G>T p.G242V Missense 6/28 - 2
7-55220337-C-T c.727C>T p.P243S Missense 6/28 - 1
7-55220338-C-G c.728C>G p.P243R Missense 6/28 - 1
7-55220335-GC-G c.730del p.R244Gfs*36 Frameshift 6/28 - 1
7-55220340-CGG-TGT c.730_732delinsTGT p.R244C Missense 6/28 - 1
7-55220340-C-T c.730C>T p.R244W Missense 6/28 - 1
7-55220340-CG-GC c.730_731delinsGC p.R244A Missense 6/28 - 1
7-55220344-A-G c.734A>G p.E245G Missense 6/28 - 1
7-55220345-G-GT c.735_736insT p.S246* Nonsense 6/28 - 1
7-55220346-AG-TT c.736_737delinsTT p.S246F Missense 6/28 - 1
7-55220348-C-G c.738C>G p.S246R Missense 6/28 - 1
7-55220348-C-A c.738C>A p.S246R Missense 6/28 - 1
7-55220346-A-C c.736A>C p.S246R Missense 6/28 - 1
7-55220349-G-T c.739G>T p.D247Y Missense 6/28 - 3
7-55220349-G-A c.739G>A p.D247N Missense 6/28 - 1
7-55220349-G-C c.739G>C p.D247H Missense 6/28 - 1
7-55220350-A-G c.740A>G p.D247G Missense 6/28 - 1
7-55220353-G-A c.743G>A p.C248Y Missense 6/28 - 1
7-55220355-CTG-ATC c.745_747delinsATC p.L249I Missense 6/28 - 1
7-55220358-G-T c.747+1G>T - IntronicSNV - 6/27 1
7-55220370-T-C c.747+13T>C - IntronicSNV - 6/27 1
7-55220905-C-T c.747+548C>T - IntronicSNV - 6/27 3
7-55221167-A-G c.748-537A>G - IntronicSNV - 6/27 1
7-55221447-C-G c.748-257C>G - IntronicSNV - 6/27 2
7-55221655-G-A c.748-49G>A - IntronicSNV - 6/27 11
7-55221710-C-T c.754C>T p.R252C Missense 7/28 - 8
7-55221710-CG-GA c.754_755delinsGA p.R252D Missense 7/28 - 1
7-55221711-G-T c.755G>T p.R252L Missense 7/28 - 1
7-55221711-G-A c.755G>A p.R252H Missense 7/28 - 3
7-55221711-G-C c.755G>C p.R252P Missense 7/28 - 6
7-55221713-AA-GC c.757_758delinsGC p.K253A Missense 7/28 - 1
7-55221714-A-G c.758A>G p.K253R Missense 7/28 - 2
7-55221715-A-C c.759A>C p.K253N Missense 7/28 - 1
7-55221715-A-T c.759A>T p.K253N Missense 7/28 - 1
7-55221713-AAATTCCGAG-A c.759_767del p.K253_D256delinsN MultiAAMissense 7/28 - 1
7-55221716-T-A c.760T>A p.F254I Missense 7/28 - 7
7-55221716-T-C c.760T>C p.F254L Missense 7/28 - 1
7-55221718-C-A c.762C>A p.F254L Missense 7/28 - 1
7-55221718-C-G c.762C>G p.F254L Missense 7/28 - 1
7-55221717-T-C c.761T>C p.F254S Missense 7/28 - 3
7-55221719-C-T c.763C>T p.R255* Nonsense 7/28 - 3
7-55221720-G-A c.764G>A p.R255Q Missense 7/28 - 5
7-55221722-G-T c.766G>T p.D256Y Missense 7/28 - 5
7-55221723-A-G c.767A>G p.D256G Missense 7/28 - 2
7-55221725-G-A c.769G>A p.E257K Missense 7/28 - 3
7-55221726-A-C c.770A>C p.E257A Missense 7/28 - 1
7-55221728-G-C c.772G>C p.A258P Missense 7/28 - 1
7-55221731-A-G c.775A>G p.T259A Missense 7/28 - 1
7-55221732-C-T c.776C>T p.T259M Missense 7/28 - 3
7-55221735-G-A c.779G>A p.C260Y Missense 7/28 - 2
7-55221736-C-A c.780C>A p.C260* Nonsense 7/28 - 1
7-55221739-G-C c.783G>C p.K261N Missense 7/28 - 1
7-55221739-G-T c.783G>T p.K261N Missense 7/28 - 1
7-55221741-A-C c.785A>C p.D262A Missense 7/28 - 3
7-55221743-A-C c.787A>C p.T263P Missense 7/28 - 40
7-55221741-ACAC-A c.787_789del p.T263del InFrameDeletion 7/28 - 1
7-55221743-A-G c.787A>G p.T263A Missense 7/28 - 1
7-55221744-C-T c.788C>T p.T263I Missense 7/28 - 2
7-55221746-TG-GC c.790_791delinsGC p.C264A Missense 7/28 - 1
7-55221746-TG-AT c.790_791delinsAT p.C264I Missense 7/28 - 1
7-55221747-G-A c.791G>A p.C264Y Missense 7/28 - 1
7-55221749-C-G c.793C>G p.P265A Missense 7/28 - 1
7-55221750-C-T c.794C>T p.P265L Missense 7/28 - 1
7-55221750-C-A c.794C>A p.P265H Missense 7/28 - 1
7-55221753-C-G c.797C>G p.P266R Missense 7/28 - 1
7-55221756-T-G c.800T>G p.L267R Missense 7/28 - 1
7-55221759-T-C c.803T>C p.M268T Missense 7/28 - 1
7-55221761-CTC-ATG c.805_807delinsATG p.L269M Missense 7/28 - 1
7-55221765-A-G c.809A>G p.Y270C Missense 7/28 - 4
7-55221770-C-T c.814C>T p.P272S Missense 7/28 - 1
7-55221771-C-T c.815C>T p.P272L Missense 7/28 - 2
7-55221771-C-A c.815C>A p.P272H Missense 7/28 - 1
7-55221772-C-A c.816C>A p.P272= Synonymous 7/28 - 1
7-55221773-A-C c.817A>C p.T273P Missense 7/28 - 1
7-55221773-AC-CA c.817_818delinsCA p.T273H Missense 7/28 - 1
7-55221773-A-G c.817A>G p.T273A Missense 7/28 - 1
7-55221774-C-G c.818C>G p.T273S Missense 7/28 - 1
7-55221773-A-T c.817A>T p.T273S Missense 7/28 - 1
7-55221774-C-T c.818C>T p.T273I Missense 7/28 - 2
7-55221777-CG-TC c.821_822delinsTC p.T274I Missense 7/28 - 2
7-55221778-G-A c.822G>A p.T274= Synonymous 7/28 - 1
7-55221780-A-T c.824A>T p.Y275F Missense 7/28 - 2
7-55221780-A-C c.824A>C p.Y275S Missense 7/28 - 1
7-55221782-C-T c.826C>T p.Q276* Nonsense 7/28 - 1
7-55221783-A-G c.827A>G p.Q276R Missense 7/28 - 2
7-55221783-A-T c.827A>T p.Q276L Missense 7/28 - 3
7-55221784-G-T c.828G>T p.Q276H Missense 7/28 - 2
7-55221784-G-C c.828G>C p.Q276H Missense 7/28 - 1
7-55221785-AT-GA c.829_830delinsGA p.M277E Missense 7/28 - 6
7-55221788-G-A c.832G>A p.D278N Missense 7/28 - 1
7-55221789-A-T c.833A>T p.D278V Missense 7/28 - 1
7-55221793-G-T c.837G>T p.V279= Synonymous 7/28 - 1
7-55221793-G-C c.837G>C p.V279= Synonymous 7/28 - 1
7-55221793-G-A c.837G>A p.V279= Synonymous 7/28 - 1
7-55221793-GA-CG c.837_838delinsCG p.N280D Missense 7/28 - 1
7-55221797-C-A c.841C>A p.P281T Missense 7/28 - 1
7-55221797-C-G c.841C>G p.P281A Missense 7/28 - 1
7-55221798-C-T c.842C>T p.P281L Missense 7/28 - 1
7-55221800-G-A c.844G>A p.E282K Missense 7/28 - 7
7-55221802-G-T c.846G>T p.E282D Missense 7/28 - 1
7-55221803-G-A c.847G>A p.G283S Missense 7/28 - 1
7-55221803-G-T c.847G>T p.G283C Missense 7/28 - 1
7-55221804-G-A c.848G>A p.G283D Missense 7/28 - 1
7-55221804-G-C c.848G>C p.G283A Missense 7/28 - 1
7-55221810-A-G c.854A>G p.Y285C Missense 7/28 - 3
7-55221810-A-T c.854A>T p.Y285F Missense 7/28 - 1
7-55221812-AGC-GAG c.856_858delinsGAG p.S286E Missense 7/28 - 1
7-55221814-C-G c.858C>G p.S286R Missense 7/28 - 1
7-55221814-C-A c.858C>A p.S286R Missense 7/28 - 1
7-55221812-A-C c.856A>C p.S286R Missense 7/28 - 1
7-55221815-T-C c.859T>C p.F287L Missense 7/28 - 1
7-55221817-T-A c.861T>A p.F287L Missense 7/28 - 1
7-55221817-T-TCATGCA c.861_862insCATGCA p.F287_G288insHA InFrameInsertion 7/28 - 1
7-55221818-G-A c.862G>A p.G288S Missense 7/28 - 1
7-55221819-G-T c.863G>T p.G288V Missense 7/28 - 1
7-55221817-TG-T c.863del p.G288Vfs*5 Frameshift 7/28 - 1
7-55221820-T-C c.864T>C p.G288= Synonymous 7/28 - 1
7-55221821-GCC-TAA c.865_867delinsTAA p.A289* Nonsense 7/28 - 3
7-55221821-G-A c.865G>A p.A289T Missense 7/28 - 27
7-55221821-GC-AA c.865_866delinsAA p.A289N Missense 7/28 - 2
7-55221821-GC-AT c.865_866delinsAT p.A289I Missense 7/28 - 2
7-55221821-G-C c.865G>C p.A289P Missense 7/28 - 1
7-55221822-C-A c.866C>A p.A289D Missense 7/28 - 35
7-55221822-C-T c.866C>T p.A289V Missense 7/28 - 111
7-55221822-C-G c.866C>G p.A289G Missense 7/28 - 1
7-55221823-C-A c.867C>A p.A289= Synonymous 7/28 - 1
7-55221823-C-G c.867C>G p.A289= Synonymous 7/28 - 1
7-55221823-C-T c.867C>T p.A289= Synonymous 7/28 - 1
7-55221825-CC-TG c.869_870delinsTG p.T290M Missense 7/28 - 3
7-55221825-C-T c.869C>T p.T290I Missense 7/28 - 1
7-55221828-G-A c.872G>A p.C291Y Missense 7/28 - 1
7-55221830-G-C c.874G>C p.V292L Missense 7/28 - 6
7-55221830-G-T c.874G>T p.V292L Missense 7/28 - 6
7-55221830-G-A c.874G>A p.V292M Missense 7/28 - 2
7-55221831-T-C c.875T>C p.V292A Missense 7/28 - 1
7-55221832-G-A c.876G>A p.V292= Synonymous 7/28 - 1
7-55221834-A-C c.878A>C p.K293T Missense 7/28 - 1
7-55221836-A-G c.880A>G p.K294E Missense 7/28 - 1
7-55221836-GAA-G c.880_881del p.K294Vfs*4 Frameshift 7/28 - 1
7-55221837-A-G c.881A>G p.K294R Missense 7/28 - 1
7-55221839-T-C c.883T>C p.C295R Missense 7/28 - 1
7-55221839-TG-GC c.883_884delinsGC p.C295A Missense 7/28 - 1
7-55221840-G-A c.884G>A p.C295Y Missense 7/28 - 1
7-55221842-C-T c.886C>T p.P296S Missense 7/28 - 1
7-55221845-C-T c.889C>T p.R297C Missense 7/28 - 2
7-55221846-G-A c.889+1G>A - IntronicSNV - 7/27 3
7-55221848-G-A c.889+3G>A - IntronicSNV - 7/27 1
7-55221855-C-T c.889+10C>T - IntronicSNV - 7/27 1
7-55221859-T-C c.889+14T>C - IntronicSNV - 7/27 1
7-55221879-A-G c.889+34A>G - IntronicSNV - 7/27 1
7-55221883-A-G c.889+38A>G - IntronicSNV - 7/27 1
7-55221898-T-C c.889+53T>C - IntronicSNV - 7/27 1
7-55222954-G-A c.890-569G>A - IntronicSNV - 7/27 1
7-55223176-G-A c.890-347G>A - IntronicSNV - 7/27 3
7-55223525-AA-GC c.892_893delinsGC p.N298A Missense 8/28 - 4
7-55223527-T-G c.894T>G p.N298K Missense 8/28 - 1
7-55223529-A-T c.896A>T p.Y299F Missense 8/28 - 1
7-55223531-G-C c.898G>C p.V300L Missense 8/28 - 1
7-55223531-G-A c.898G>A p.V300M Missense 8/28 - 1
7-55223532-T-A c.899T>A p.V300E Missense 8/28 - 1
7-55223530-TGTG-T c.901_903del p.V301del InFrameDeletion 8/28 - 1
7-55223534-G-T c.901G>T p.V301L Missense 8/28 - 1
7-55223537-ACA-TGT c.904_906inv p.T302C Missense 8/28 - 1
7-55223537-ACA-CAC c.904_906delinsCAC p.T302H Missense 8/28 - 1
7-55223537-ACA-CAT c.904_906delinsCAT p.T302H Missense 8/28 - 1
7-55223540-G-C c.907G>C p.D303H Missense 8/28 - 1
7-55223540-G-A c.907G>A p.D303N Missense 8/28 - 2
7-55223541-A-T c.908A>T p.D303V Missense 8/28 - 1
7-55223543-C-T c.910C>T p.H304Y Missense 8/28 - 5
7-55223549-T-G c.916T>G p.S306A Missense 8/28 - 1
7-55223549-TCG-ATC c.916_918delinsATC p.S306I Missense 8/28 - 1
7-55223550-C-T c.917C>T p.S306L Missense 8/28 - 7
7-55223554-C-T c.921C>T p.C307= Synonymous 8/28 - 2
7-55223555-GTC-ATG c.922_924delinsATG p.V308M Missense 8/28 - 1
7-55223555-GT-AG c.922_923delinsAG p.V308S Missense 8/28 - 1
7-55223558-C-T c.925C>T p.R309* Nonsense 8/28 - 3
7-55223558-CG-GC c.925_926delinsGC p.R309A Missense 8/28 - 1
7-55223564-T-A c.931T>A p.C311S Missense 8/28 - 1
7-55223565-G-T c.932G>T p.C311F Missense 8/28 - 1
7-55223567-G-T c.934G>T p.G312W Missense 8/28 - 2
7-55223567-GGG-AGC c.934_936delinsAGC p.G312S Missense 8/28 - 1
7-55223571-C-G c.938C>G p.A313G Missense 8/28 - 1
7-55223574-A-C c.941A>C p.D314A Missense 8/28 - 4
7-55223577-G-A c.944G>A p.S315N Missense 8/28 - 2
7-55223577-G-C c.944G>C p.S315T Missense 8/28 - 1
7-55223578-C-T c.945C>T p.S315= Synonymous 8/28 - 1
7-55223580-A-T c.947A>T p.Y316F Missense 8/28 - 1
7-55223581-T-A c.948T>A p.Y316* Nonsense 8/28 - 1
7-55223581-T-G c.948T>G p.Y316* Nonsense 8/28 - 1
7-55223582-G-T c.949G>T p.E317* Nonsense 8/28 - 1
7-55223582-G-A c.949G>A p.E317K Missense 8/28 - 2
7-55223583-A-C c.950A>C p.E317A Missense 8/28 - 2
7-55223587-G-C c.954G>C p.M318I Missense 8/28 - 2
7-55223587-G-A c.954G>A p.M318I Missense 8/28 - 2
7-55223587-G-T c.954G>T p.M318I Missense 8/28 - 2
7-55223588-G-T c.955G>T p.E319* Nonsense 8/28 - 1
7-55223588-G-A c.955G>A p.E319K Missense 8/28 - 1
7-55223588-G-C c.955G>C p.E319Q Missense 8/28 - 1
7-55223589-A-G c.956A>G p.E319G Missense 8/28 - 1
7-55223591-G-C c.958G>C p.E320Q Missense 8/28 - 1
7-55223591-G-A c.958G>A p.E320K Missense 8/28 - 1
7-55223592-A-C c.959A>C p.E320A Missense 8/28 - 1
7-55223594-G-A c.961G>A p.D321N Missense 8/28 - 4
7-55223597-G-T c.964G>T p.G322C Missense 8/28 - 1
7-55223597-G-A c.964G>A p.G322S Missense 8/28 - 5
7-55223598-G-A c.965G>A p.G322D Missense 8/28 - 1
7-55223598-G-C c.965G>C p.G322A Missense 8/28 - 2
7-55223600-GT-AC c.967_968inv p.V323T Missense 8/28 - 1
7-55223600-GT-TG c.967_968delinsTG p.V323C Missense 8/28 - 1
7-55223600-G-C c.967G>C p.V323L Missense 8/28 - 1
7-55223600-GT-CA c.967_968delinsCA p.V323H Missense 8/28 - 1
7-55223600-GT-AG c.967_968delinsAG p.V323S Missense 8/28 - 1
7-55223600-G-A c.967G>A p.V323I Missense 8/28 - 1
7-55223601-T-G c.968T>G p.V323G Missense 8/28 - 1
7-55223601-TC-AG c.968_969delinsAG p.V323E Missense 8/28 - 1
7-55223601-T-A c.968T>A p.V323D Missense 8/28 - 1
7-55223601-T-C c.968T>C p.V323A Missense 8/28 - 1
7-55223603-C-T c.970C>T p.R324C Missense 8/28 - 3
7-55223603-CGC-GAG c.970_972delinsGAG p.R324E Missense 8/28 - 1
7-55223604-G-T c.971G>T p.R324L Missense 8/28 - 14
7-55223604-G-A c.971G>A p.R324H Missense 8/28 - 1
7-55223608-G-C c.975G>C p.K325N Missense 8/28 - 1
7-55223609-T-C c.976T>C p.C326R Missense 8/28 - 4
7-55223609-T-G c.976T>G p.C326G Missense 8/28 - 1
7-55223609-T-A c.976T>A p.C326S Missense 8/28 - 2
7-55223610-G-C c.977G>C p.C326S Missense 8/28 - 2
7-55223610-G-T c.977G>T p.C326F Missense 8/28 - 3
7-55223610-G-A c.977G>A p.C326Y Missense 8/28 - 1
7-55223612-A-G c.979A>G p.K327E Missense 8/28 - 2
7-55223614-G-T c.981G>T p.K327N Missense 8/28 - 1
7-55223614-G-C c.981G>C p.K327N Missense 8/28 - 2
7-55223617-G-C c.984G>C p.K328N Missense 8/28 - 1
7-55223618-T-C c.985T>C p.C329R Missense 8/28 - 2
7-55223620-C-A c.987C>A p.C329* Nonsense 8/28 - 1
7-55223621-G-A c.988G>A p.E330K Missense 8/28 - 12
7-55223624-GGG-AGC c.991_993delinsAGC p.G331S Missense 8/28 - 1
7-55223624-G-A c.991G>A p.G331R Missense 8/28 - 1
7-55223624-G-C c.991G>C p.G331R Missense 8/28 - 1
7-55223627-C-T c.994C>T p.P332S Missense 8/28 - 2
7-55223628-C-CT c.997dup p.C333Lfs*6 Frameshift 8/28 - 1
7-55223630-TG-CA c.997_998inv p.C333H Missense 8/28 - 1
7-55223633-CGC-TGG c.1000_1002delinsTGG p.R334W Missense 8/28 - 2
7-55223633-C-T c.1000C>T p.R334C Missense 8/28 - 2
7-55223634-G-A c.1001G>A p.R334H Missense 8/28 - 2
7-55223634-GC-AA c.1001_1002delinsAA p.R334Q Missense 8/28 - 2
7-55223634-G-T c.1001G>T p.R334L Missense 8/28 - 1
7-55223636-A-C c.1003A>C p.K335Q Missense 8/28 - 1
7-55223637-A-C c.1004A>C p.K335T Missense 8/28 - 1
7-55223637-AA-GC c.1004_1005delinsGC p.K335S Missense 8/28 - 1
7-55224119-C-T c.1007-107C>T - IntronicSNV - 8/27 1
7-55224228-T-A c.1009T>A p.C337S Missense 9/28 - 1
7-55224229-G-C c.1010G>C p.C337S Missense 9/28 - 1
7-55224229-G-T c.1010G>T p.C337F Missense 9/28 - 1
7-55224235-GA-AC c.1016_1017delinsAC p.G339D Missense 9/28 - 1
7-55224237-A-G c.1018A>G p.I340V Missense 9/28 - 1
7-55224240-G-T c.1021G>T p.G341C Missense 9/28 - 1
7-55224244-TT-GG c.1025_1026delinsGG p.I342R Missense 9/28 - 1
7-55224247-G-A c.1028G>A p.G343D Missense 9/28 - 2
7-55224247-G-T c.1028G>T p.G343V Missense 9/28 - 1
7-55224247-G-C c.1028G>C p.G343A Missense 9/28 - 1
7-55224249-TGAA-T c.1030_1032del p.E344del InFrameDeletion 9/28 - 1
7-55224252-T-C c.1033T>C p.F345L Missense 9/28 - 2
7-55224254-T-A c.1035T>A p.F345L Missense 9/28 - 2
7-55224254-T-G c.1035T>G p.F345L Missense 9/28 - 2
7-55224255-AA-GC c.1036_1037delinsGC p.K346A Missense 9/28 - 1
7-55224262-CA-GT c.1043_1044delinsGT p.S348C Missense 9/28 - 1
7-55224264-C-T c.1045C>T p.L349F Missense 9/28 - 1
7-55224268-C-T c.1049C>T p.S350F Missense 9/28 - 1
7-55224268-C-A c.1049C>A p.S350Y Missense 9/28 - 1
7-55224280-C-T c.1061C>T p.T354M Missense 9/28 - 1
7-55224288-AA-GC c.1069_1070delinsGC p.K357A Missense 9/28 - 2
7-55224291-CA-AG c.1072_1073delinsAG p.H358S Missense 9/28 - 1
7-55224291-CAC-ATG c.1072_1074delinsATG p.H358M Missense 9/28 - 3
7-55224291-C-T c.1072C>T p.H358Y Missense 9/28 - 1
7-55224291-CA-GC c.1072_1073delinsGC p.H358A Missense 9/28 - 1
7-55224292-A-G c.1073A>G p.H358R Missense 9/28 - 6
7-55224292-A-C c.1073A>C p.H358P Missense 9/28 - 1
7-55224294-T-G c.1075T>G p.F359V Missense 9/28 - 13
7-55224294-T-C c.1075T>C p.F359L Missense 9/28 - 1
7-55224296-C-A c.1077C>A p.F359L Missense 9/28 - 1
7-55224296-C-G c.1077C>G p.F359L Missense 9/28 - 1
7-55224294-TT-GC c.1075_1076delinsGC p.F359A Missense 9/28 - 3
7-55224295-T-G c.1076T>G p.F359C Missense 9/28 - 3
7-55224297-A-G c.1078A>G p.K360E Missense 9/28 - 5
7-55224297-AAA-GAC c.1078_1080delinsGAC p.K360D Missense 9/28 - 2
7-55224300-A-G c.1081A>G p.N361D Missense 9/28 - 1
7-55224296-CA-C c.1082del p.N361Tfs*35 Frameshift 9/28 - 2
7-55224303-TG-GC c.1084_1085delinsGC p.C362A Missense 9/28 - 1
7-55224303-T-A c.1084T>A p.C362S Missense 9/28 - 2
7-55224304-G-C c.1085G>C p.C362S Missense 9/28 - 2
7-55224305-C-A c.1086C>A p.C362* Nonsense 9/28 - 1
7-55224306-A-G c.1087A>G p.T363A Missense 9/28 - 2
7-55224307-C-T c.1088C>T p.T363I Missense 9/28 - 3
7-55224307-C-A c.1088C>A p.T363N Missense 9/28 - 2
7-55224309-T-G c.1090T>G p.S364A Missense 9/28 - 2
7-55224309-TC-CA c.1090_1091delinsCA p.S364H Missense 9/28 - 5
7-55224309-TCC-CAA c.1090_1092delinsCAA p.S364Q Missense 9/28 - 1
7-55224310-C-T c.1091C>T p.S364F Missense 9/28 - 1
7-55224313-T-A c.1094T>A p.I365N Missense 9/28 - 1
7-55224321-GA-CG c.1102_1103delinsCG p.D368R Missense 9/28 - 1
7-55224321-G-T c.1102G>T p.D368Y Missense 9/28 - 1
7-55224321-G-C c.1102G>C p.D368H Missense 9/28 - 1
7-55224321-G-A c.1102G>A p.D368N Missense 9/28 - 3
7-55224322-A-C c.1103A>C p.D368A Missense 9/28 - 1
7-55224327-C-T c.1108C>T p.H370Y Missense 9/28 - 1
7-55224328-ACAT-A c.1111_1113del p.I371del InFrameDeletion 9/28 - 1
7-55224333-C-A c.1114C>A p.L372M Missense 9/28 - 2
7-55224334-TG-AT c.1115_1116delinsAT p.L372H Missense 9/28 - 1
7-55224336-C-T c.1117C>T p.P373S Missense 9/28 - 1
7-55224337-C-T c.1118C>T p.P373L Missense 9/28 - 4
7-55224338-G-A c.1119G>A p.P373= Synonymous 9/28 - 1
7-55224339-GTG-ATC c.1120_1122delinsATC p.V374I Missense 9/28 - 1
7-55224342-G-C c.1123G>C p.A375P Missense 9/28 - 23
7-55224342-GCA-ATG c.1123_1125delinsATG p.A375M Missense 9/28 - 18
7-55224342-GC-AG c.1123_1124delinsAG p.A375R Missense 9/28 - 10
7-55224342-GC-TA c.1123_1124delinsTA p.A375* Nonsense 9/28 - 1
7-55224342-G-T c.1123G>T p.A375S Missense 9/28 - 1
7-55224343-C-G c.1124C>G p.A375G Missense 9/28 - 1
7-55224345-TT-GC c.1126_1127delinsGC p.F376A Missense 9/28 - 1
7-55224348-AGG-CAT c.1129_1131delinsCAT p.R377H Missense 9/28 - 1
7-55224348-AG-GC c.1129_1130delinsGC p.R377A Missense 9/28 - 1
7-55224350-G-C c.1131G>C p.R377S Missense 9/28 - 3
7-55224350-G-T c.1131G>T p.R377S Missense 9/28 - 3
7-55224352-G-C c.1133G>C p.G378A Missense 9/28 - 1
7-55224352-G-T c.1133G>T p.G378V Missense 9/28 - 1
7-55224454-A-C c.1136A>C p.D379A Missense 10/28 - 1
7-55224456-T-G c.1138T>G p.S380A Missense 10/28 - 1
7-55224457-C-G c.1139C>G p.S380C Missense 10/28 - 1
7-55224457-CC-AA c.1139_1140delinsAA p.S380* Nonsense 10/28 - 1
7-55224459-TT-GC c.1141_1142delinsGC p.F381A Missense 10/28 - 1
7-55224462-A-G c.1144A>G p.T382A Missense 10/28 - 2
7-55224465-CA-GC c.1147_1148delinsGC p.H383A Missense 10/28 - 1
7-55224468-A-T c.1150A>T p.T384S Missense 10/28 - 3
7-55224468-A-G c.1150A>G p.T384A Missense 10/28 - 1
7-55224469-C-G c.1151C>G p.T384S Missense 10/28 - 2
7-55224471-C-T c.1153C>T p.P385S Missense 10/28 - 3
7-55224471-C-G c.1153C>G p.P385A Missense 10/28 - 1
7-55224472-C-G c.1154C>G p.P385R Missense 10/28 - 1
7-55224474-C-G c.1156C>G p.P386A Missense 10/28 - 2
7-55224475-C-T c.1157C>T p.P386L Missense 10/28 - 1
7-55224477-C-A c.1159C>A p.L387M Missense 10/28 - 5
7-55224477-CTG-TTT c.1159_1161delinsTTT p.L387F Missense 10/28 - 2
7-55224477-C-G c.1159C>G p.L387V Missense 10/28 - 1
7-55224477-CT-TC c.1159_1160delinsTC p.L387S Missense 10/28 - 1
7-55224477-CTG-AGGAGC c.1159_1161delinsAGGAGC p.L387delinsRS MultiAAMissense 10/28 - 1
7-55224477-CT-GC c.1159_1160delinsGC p.L387A Missense 10/28 - 1
7-55224480-G-A c.1162G>A p.D388N Missense 10/28 - 3
7-55224481-A-G c.1163A>G p.D388G Missense 10/28 - 1
7-55224481-A-C c.1163A>C p.D388A Missense 10/28 - 1
7-55224483-C-G c.1165C>G p.P389A Missense 10/28 - 2
7-55224486-C-G c.1168C>G p.Q390E Missense 10/28 - 2
7-55224486-C-A c.1168C>A p.Q390K Missense 10/28 - 1
7-55224486-CA-GC c.1168_1169delinsGC p.Q390A Missense 10/28 - 1
7-55224487-A-G c.1169A>G p.Q390R Missense 10/28 - 1
7-55224489-G-A c.1171G>A p.E391K Missense 10/28 - 1
7-55224490-A-C c.1172A>C p.E391A Missense 10/28 - 1
7-55224490-A-G c.1172A>G p.E391G Missense 10/28 - 1
7-55224492-CT-GC c.1174_1175delinsGC p.L392A Missense 10/28 - 1
7-55224495-G-A c.1177G>A p.D393N Missense 10/28 - 1
7-55224496-A-C c.1178A>C p.D393A Missense 10/28 - 1
7-55224498-AT-GC c.1180_1181delinsGC p.I394A Missense 10/28 - 1
7-55224501-TCTG-T c.1183_1185del p.L395del InFrameDeletion 10/28 - 1
7-55224507-A-G c.1189A>G p.T397A Missense 10/28 - 1
7-55224508-C-T c.1190C>T p.T397I Missense 10/28 - 1
7-55224511-T-A c.1193T>A p.V398E Missense 10/28 - 1
7-55224516-GA-TC c.1198_1199inv p.E400S Missense 10/28 - 2
7-55224522-A-G c.1204A>G p.T402A Missense 10/28 - 1
7-55224525-G-T c.1207G>T p.G403W Missense 10/28 - 1
7-55225140-G-C c.1208-216G>C - IntronicSNV - 10/27 2
7-55225170-G-C c.1208-186G>C - IntronicSNV - 10/27 1
7-55225357-G-T c.1209G>T p.G403= Synonymous 11/28 - 1
7-55225357-G-A c.1209G>A p.G403= Synonymous 11/28 - 1
7-55225357-G-C c.1209G>C p.G403= Synonymous 11/28 - 1
7-55225364-C-A c.1216C>A p.L406M Missense 11/28 - 1
7-55225365-T-A c.1217T>A p.L406Q Missense 11/28 - 1
7-55225367-A-G c.1219A>G p.I407V Missense 11/28 - 1
7-55225370-CA-GC c.1222_1223delinsGC p.Q408A Missense 11/28 - 1
7-55225371-A-G c.1223A>G p.Q408R Missense 11/28 - 1
7-55225372-G-T c.1224G>T p.Q408H Missense 11/28 - 1
7-55225372-G-C c.1224G>C p.Q408H Missense 11/28 - 1
7-55225379-C-T c.1231C>T p.P411S Missense 11/28 - 2
7-55225380-C-T c.1232C>T p.P411L Missense 11/28 - 1
7-55225384-A-G c.1236A>G p.E412= Synonymous 11/28 - 1
7-55225387-C-T c.1239C>T p.N413= Synonymous 11/28 - 1
7-55225388-AG-TA c.1240_1241delinsTA p.R414* Nonsense 11/28 - 1
7-55225394-G-A c.1246G>A p.D416N Missense 11/28 - 2
7-55225397-C-G c.1249C>G p.L417V Missense 11/28 - 1
7-55225398-T-A c.1250T>A p.L417H Missense 11/28 - 1
7-55225398-T-G c.1250T>G p.L417R Missense 11/28 - 1
7-55225400-C-T c.1252C>T p.H418Y Missense 11/28 - 2
7-55225400-C-A c.1252C>A p.H418N Missense 11/28 - 1
7-55225403-TGCC-T c.1255_1257del p.A419del InFrameDeletion 11/28 - 1
7-55225404-C-T c.1256C>T p.A419V Missense 11/28 - 1
7-55225405-C-G c.1257C>G p.A419= Synonymous 11/28 - 1
7-55225406-T-A c.1258T>A p.F420I Missense 11/28 - 1
7-55225409-G-A c.1261G>A p.E421K Missense 11/28 - 2
7-55225409-G-T c.1261G>T p.E421* Nonsense 11/28 - 1
7-55225409-G-C c.1261G>C p.E421Q Missense 11/28 - 1
7-55225412-A-G c.1264A>G p.N422D Missense 11/28 - 1
7-55225421-A-C c.1273A>C p.I425L Missense 11/28 - 1
7-55225421-A-G c.1273A>G p.I425V Missense 11/28 - 1
7-55225427-CG-GC c.1279_1280delinsGC p.R427A Missense 11/28 - 1
7-55225427-C-T c.1279C>T p.R427C Missense 11/28 - 3
7-55225428-G-T c.1280G>T p.R427L Missense 11/28 - 1
7-55225428-G-A c.1280G>A p.R427H Missense 11/28 - 1
7-55225428-GC-AA c.1280_1281delinsAA p.R427Q Missense 11/28 - 1
7-55225431-G-A c.1283G>A p.G428D Missense 11/28 - 6
7-55225433-AG-GA c.1285_1286delinsGA p.R429E Missense 11/28 - 1
7-55225435-G-C c.1287G>C p.R429S Missense 11/28 - 1
7-55225435-G-T c.1287G>T p.R429S Missense 11/28 - 1
7-55225437-C-T c.1289C>T p.T430I Missense 11/28 - 2
7-55225442-C-A c.1294C>A p.Q432K Missense 11/28 - 1
7-55225444-A-T c.1296A>T p.Q432H Missense 11/28 - 3
7-55225444-A-C c.1296A>C p.Q432H Missense 11/28 - 3
7-55225445-C-T c.1297C>T p.H433Y Missense 11/28 - 1
7-55225445-CA-GC c.1297_1298delinsGC p.H433A Missense 11/28 - 2
7-55225446-A-T c.1298A>T p.H433L Missense 11/28 - 1
7-55227837-A-C c.1304A>C p.Q435P Missense 12/28 - 1
7-55227839-T-C c.1306T>C p.F436L Missense 12/28 - 1
7-55227842-TC-CT c.1309_1310delinsCT p.S437L Missense 12/28 - 1
7-55227843-C-T c.1310C>T p.S437F Missense 12/28 - 1
7-55227845-C-G c.1312C>G p.L438V Missense 12/28 - 1
7-55227846-T-C c.1313T>C p.L438P Missense 12/28 - 1
7-55227850-A-G c.1317A>G p.A439= Synonymous 12/28 - 2
7-55227851-G-A c.1318G>A p.V440I Missense 12/28 - 3
7-55227851-G-T c.1318G>T p.V440F Missense 12/28 - 1
7-55227852-T-C c.1319T>C p.V440A Missense 12/28 - 1
7-55227854-G-A c.1321G>A p.V441I Missense 12/28 - 3
7-55227854-G-T c.1321G>T p.V441F Missense 12/28 - 1
7-55227854-GT-AA c.1321_1322delinsAA p.V441N Missense 12/28 - 1
7-55227854-G-C c.1321G>C p.V441L Missense 12/28 - 1
7-55227855-T-A c.1322T>A p.V441D Missense 12/28 - 3
7-55227855-T-G c.1322T>G p.V441G Missense 12/28 - 2
7-55227857-AG-GA c.1324_1325delinsGA p.S442D Missense 12/28 - 1
7-55227857-AG-TT c.1324_1325delinsTT p.S442F Missense 12/28 - 3
7-55227857-AG-CT c.1324_1325inv p.S442L Missense 12/28 - 1
7-55227858-G-C c.1325G>C p.S442T Missense 12/28 - 1
7-55227858-GC-AG c.1325_1326delinsAG p.S442K Missense 12/28 - 1
7-55227860-CTG-TTT c.1327_1329delinsTTT p.L443F Missense 12/28 - 1
7-55227860-CT-GC c.1327_1328delinsGC p.L443A Missense 12/28 - 1
7-55227861-T-A c.1328T>A p.L443Q Missense 12/28 - 1
7-55227870-C-A c.1337C>A p.T446K Missense 12/28 - 2
7-55227872-TC-CG c.1339_1340delinsCG p.S447R Missense 12/28 - 1
7-55227873-CC-AA c.1340_1341delinsAA p.S447* Nonsense 12/28 - 2
7-55227873-C-T c.1340C>T p.S447F Missense 12/28 - 1
7-55227873-C-A c.1340C>A p.S447Y Missense 12/28 - 1
7-55227874-C-A c.1341C>A p.S447= Synonymous 12/28 - 1
7-55227875-TTG-ATC c.1342_1344delinsATC p.L448I Missense 12/28 - 1
7-55227879-G-T c.1346G>T p.G449V Missense 12/28 - 1
7-55227884-C-T c.1351C>T p.R451C Missense 12/28 - 25
7-55227884-CG-TT c.1351_1352delinsTT p.R451F Missense 12/28 - 1
7-55227885-G-A c.1352G>A p.R451H Missense 12/28 - 4
7-55227888-C-T c.1355C>T p.S452F Missense 12/28 - 3
7-55227890-C-T c.1357C>T p.L453F Missense 12/28 - 1
7-55227893-AA-GC c.1360_1361delinsGC p.K454A Missense 12/28 - 1
7-55227893-A-G c.1360A>G p.K454E Missense 12/28 - 1
7-55227894-A-G c.1361A>G p.K454R Missense 12/28 - 6
7-55227894-A-T c.1361A>T p.K454M Missense 12/28 - 1
7-55227896-GA-TC c.1363_1364inv p.E455S Missense 12/28 - 1
7-55227899-A-G c.1366A>G p.I456V Missense 12/28 - 1
7-55227900-T-C c.1367T>C p.I456T Missense 12/28 - 1
7-55227902-AG-GC c.1369_1370delinsGC p.S457A Missense 12/28 - 1
7-55227900-TAAGTGATGG-T c.1369_1377del p.S457_G459del InFrameDeletion 12/28 - 1
7-55227903-AG-A c.1370del p.S457Mfs*5 Frameshift 12/28 - 1
7-55227905-G-C c.1372G>C p.D458H Missense 12/28 - 1
7-55227905-G-A c.1372G>A p.D458N Missense 12/28 - 2
7-55227908-GG-CC c.1375_1376inv p.G459P Missense 12/28 - 1
7-55227908-G-A c.1375G>A p.G459R Missense 12/28 - 1
7-55227908-G-C c.1375G>C p.G459R Missense 12/28 - 1
7-55227909-G-A c.1376G>A p.G459E Missense 12/28 - 2
7-55227909-G-C c.1376G>C p.G459A Missense 12/28 - 1
7-55227911-GAT-AAG c.1378_1380delinsAAG p.D460K Missense 12/28 - 1
7-55227914-GT-TC c.1381_1382delinsTC p.V461S Missense 12/28 - 1
7-55227914-G-C c.1381G>C p.V461L Missense 12/28 - 1
7-55227914-G-T c.1381G>T p.V461L Missense 12/28 - 1
7-55227917-A-G c.1384A>G p.I462V Missense 12/28 - 1
7-55227918-TA-GC c.1385_1386delinsGC p.I462S Missense 12/28 - 1
7-55227919-A-G c.1386A>G p.I462M Missense 12/28 - 2
7-55227923-T-C c.1390T>C p.S464P Missense 12/28 - 1
7-55227923-T-G c.1390T>G p.S464A Missense 12/28 - 1
7-55227924-C-T c.1391C>T p.S464L Missense 12/28 - 22
7-55227925-CAGGAAA-C c.1392_1397del p.G465_N466del InFrameDeletion 12/28 - 1
7-55227926-G-A c.1393G>A p.G465R Missense 12/28 - 36
7-55227926-G-C c.1393G>C p.G465R Missense 12/28 - 36
7-55227927-G-T c.1394G>T p.G465V Missense 12/28 - 8
7-55227927-G-A c.1394G>A p.G465E Missense 12/28 - 9
7-55227927-G-C c.1394G>C p.G465A Missense 12/28 - 3
7-55227930-A-C c.1397A>C p.N466T Missense 12/28 - 1
7-55227931-C-T c.1398C>T p.N466= Synonymous 12/28 - 1
7-55227932-A-T c.1399A>T p.K467* Nonsense 12/28 - 1
7-55227932-A-G c.1399A>G p.K467E Missense 12/28 - 1
7-55227933-A-C c.1400A>C p.K467T Missense 12/28 - 13
7-55227935-A-G c.1402A>G p.N468D Missense 12/28 - 1
7-55227937-T-G c.1404T>G p.N468K Missense 12/28 - 1
7-55227937-T-A c.1404T>A p.N468K Missense 12/28 - 1
7-55227939-T-C c.1406T>C p.L469S Missense 12/28 - 1
7-55227939-T-G c.1406T>G p.L469W Missense 12/28 - 1
7-55227943-C-T c.1410C>T p.C470= Synonymous 12/28 - 1
7-55227945-A-T c.1412A>T p.Y471F Missense 12/28 - 2
7-55227945-A-G c.1412A>G p.Y471C Missense 12/28 - 3
7-55227948-C-G c.1415C>G p.A472G Missense 12/28 - 1
7-55227949-A-T c.1416A>T p.A472= Synonymous 12/28 - 3
7-55227950-AA-GC c.1417_1418delinsGC p.N473A Missense 12/28 - 1
7-55227952-T-G c.1419T>G p.N473K Missense 12/28 - 1
7-55227952-T-A c.1419T>A p.N473K Missense 12/28 - 1
7-55227953-AC-GA c.1420_1421delinsGA p.T474E Missense 12/28 - 1
7-55227953-ACA-TTT c.1420_1422delinsTTT p.T474F Missense 12/28 - 1
7-55227953-AC-CT c.1420_1421delinsCT p.T474L Missense 12/28 - 1
7-55227953-AC-CA c.1420_1421delinsCA p.T474Q Missense 12/28 - 1
7-55227953-AC-GT c.1420_1421inv p.T474V Missense 12/28 - 1
7-55227953-A-G c.1420A>G p.T474A Missense 12/28 - 3
7-55227953-ACA-GAC c.1420_1422delinsGAC p.T474D Missense 12/28 - 1
7-55227954-C-T c.1421C>T p.T474I Missense 12/28 - 2
7-55227954-CA-TG c.1421_1422inv p.T474M Missense 12/28 - 1
7-55227955-A-G c.1422A>G p.T474= Synonymous 12/28 - 1
7-55227955-A-T c.1422A>T p.T474= Synonymous 12/28 - 1
7-55227955-A-C c.1422A>C p.T474= Synonymous 12/28 - 1
7-55227959-A-G c.1426A>G p.N476D Missense 12/28 - 1
7-55227959-A-T c.1426A>T p.N476Y Missense 12/28 - 1
7-55227963-G-A c.1430G>A p.W477* Nonsense 12/28 - 1
7-55227965-AA-GC c.1432_1433delinsGC p.K478A Missense 12/28 - 1
7-55227967-A-C c.1434A>C p.K478N Missense 12/28 - 1
7-55227967-A-T c.1434A>T p.K478N Missense 12/28 - 1
7-55227967-AAAAACTGTTTGGGAC-A c.1434_1448del p.K478_T483delinsN MultiAAMissense 12/28 - 1
7-55227968-AAAACTGTTTGGGACC-A c.1435_1449del p.K479_T483del InFrameDeletion 12/28 - 1
7-55227968-AAAACTGTTT-A c.1435_1443del p.K479_F481del InFrameDeletion 12/28 - 1
7-55227964-G-GA c.1437dup p.L480Tfs*17 Frameshift 12/28 - 2
7-55227971-CTG-GAC c.1438_1440delinsGAC p.L480D Missense 12/28 - 1
7-55227970-ACTGTTTGGGACCTCCGGT-A c.1439_1456del p.L480_G485del InFrameDeletion 12/28 - 1
7-55227972-T-C c.1439T>C p.L480P Missense 12/28 - 1
7-55227974-T-C c.1441T>C p.F481L Missense 12/28 - 1
7-55227976-T-A c.1443T>A p.F481L Missense 12/28 - 1
7-55227976-T-G c.1443T>G p.F481L Missense 12/28 - 1
7-55227977-G-A c.1444G>A p.G482R Missense 12/28 - 1
7-55227977-G-C c.1444G>C p.G482R Missense 12/28 - 1
7-55227978-G-A c.1445G>A p.G482E Missense 12/28 - 1
7-55227978-GG-AC c.1445_1446delinsAC p.G482D Missense 12/28 - 1
7-55227980-GACCTCCGGT-G c.1447_1455del p.T483_G485del InFrameDeletion 12/28 - 1
7-55227981-C-T c.1448C>T p.T483I Missense 12/28 - 2
7-55227986-G-C c.1453G>C p.G485R Missense 12/28 - 1
7-55227986-CGGT-C c.1453_1455del p.G485del InFrameDeletion 12/28 - 1
7-55227987-G-A c.1454G>A p.G485D Missense 12/28 - 1
7-55227989-C-T c.1456C>T p.Q486* Nonsense 12/28 - 1
7-55227992-A-G c.1459A>G p.K487E Missense 12/28 - 1
7-55227995-A-G c.1462A>G p.T488A Missense 12/28 - 2
7-55227996-CC-AG c.1463_1464delinsAG p.T488K Missense 12/28 - 1
7-55227995-AC-A c.1464del p.I490Lfs*2 Frameshift 12/28 - 1
7-55227998-AA-GC c.1465_1466delinsGC p.K489A Missense 12/28 - 1
7-55227998-A-G c.1465A>G p.K489E Missense 12/28 - 2
7-55228001-A-G c.1468A>G p.I490V Missense 12/28 - 1
7-55228005-T-A c.1472T>A p.I491K Missense 12/28 - 1
7-55228006-A-G c.1473A>G p.I491M Missense 12/28 - 16
7-55228007-A-G c.1474A>G p.S492G Missense 12/28 - 1
7-55228007-AG-GT c.1474_1475delinsGT p.S492V Missense 12/28 - 1
7-55228007-AG-GC c.1474_1475delinsGC p.S492A Missense 12/28 - 1
7-55228009-C-G c.1476C>G p.S492R Missense 12/28 - 88
7-55228009-C-A c.1476C>A p.S492R Missense 12/28 - 135
7-55228007-A-C c.1474A>C p.S492R Missense 12/28 - 135
7-55228010-A-G c.1477A>G p.N493D Missense 12/28 - 3
7-55228011-A-G c.1478A>G p.N493S Missense 12/28 - 1
7-55228013-A-T c.1480A>T p.R494* Nonsense 12/28 - 1
7-55228014-G-A c.1481G>A p.R494K Missense 12/28 - 1
7-55228016-G-A c.1483G>A p.G495S Missense 12/28 - 2
7-55228022-AA-GC c.1489_1490delinsGC p.N497A Missense 12/28 - 1
7-55228023-A-G c.1490A>G p.N497S Missense 12/28 - 1
7-55228024-C-A c.1491C>A p.N497K Missense 12/28 - 1
7-55228026-G-A c.1493G>A p.S498N Missense 12/28 - 1
7-55228027-GCTGCAGTAAGTCACCGCTTTCTGTTTAGTTTATGGAGTTGGTTCTAATGGGTCCTTTAT-G c.1494_1498+54del - SpliceDonorDeletion 12/28 12/27 1
7-55228028-TG-AC c.1495_1496delinsAC p.C499T Missense 12/28 - 2
7-55228025-AGCT-A c.1495_1497del p.C499del SpliceDonorDeletion 12/28 - 1
7-55228028-T-TTGGCCAGCG c.1495_1496insTGGCCAGCG p.C499delinsLASG MultiAAMissense 12/28 - 1
7-55228029-G-A c.1496G>A p.C499Y Missense 12/28 - 2
7-55228053-A-T c.1498+22A>T - IntronicSNV - 12/27 8
7-55228053-A-C c.1498+22A>C - IntronicSNV - 12/27 6
7-55228053-A-G c.1498+22A>G - IntronicSNV - 12/27 6
7-55228173-C-T c.1498+142C>T - IntronicSNV - 12/27 2
7-55228528-G-A c.1498+497G>A - IntronicSNV - 12/27 1
7-55229015-A-G c.1499-177A>G - IntronicSNV - 12/27 2
7-55229190-A-AGACAGCGTG c.1499_1500insCAGCGTGGA p.K500delinsNSVE SpliceAcceptorInsertion 13/28 - 1
7-55229194-G-A c.1501G>A p.A501T Missense 13/28 - 1
7-55229197-A-G c.1504A>G p.T502A Missense 13/28 - 1
7-55229197-A-ACGGACAACC c.1505_1506insGGACAACCC p.T502_G503insDNP InFrameInsertion 13/28 - 1
7-55229198-C-A c.1505C>A p.T502K Missense 13/28 - 1
7-55229200-G-T c.1507G>T p.G503C Missense 13/28 - 1
7-55229199-A-AGACAACCCC c.1507_1508insACAACCCCG p.T502_G503insDNP InFrameInsertion 13/28 - 1
7-55229202-C-T c.1509C>T p.G503= Synonymous 13/28 - 3
7-55229203-C-A c.1510C>A p.Q504K Missense 13/28 - 1
7-55229205-G-C c.1512G>C p.Q504H Missense 13/28 - 1
7-55229206-G-A c.1513G>A p.V505I Missense 13/28 - 1
7-55229208-C-T c.1515C>T p.V505= Synonymous 13/28 - 1
7-55229205-G-GGTCCAC c.1515_1516insCACGTC p.V505_C506insHV InFrameInsertion 13/28 - 1
7-55229216-C-T c.1523C>T p.A508V Missense 13/28 - 1
7-55229218-T-G c.1525T>G p.L509V Missense 13/28 - 1
7-55229222-G-A c.1529G>A p.C510Y Missense 13/28 - 1
7-55229227-C-T c.1534C>T p.P512S Missense 13/28 - 1
7-55229229-C-A c.1536C>A p.P512= Synonymous 13/28 - 1
7-55229229-C-G c.1536C>G p.P512= Synonymous 13/28 - 1
7-55229229-C-CT c.1536_1537insT p.E513* Nonsense 13/28 - 1
7-55229231-A-C c.1538A>C p.E513A Missense 13/28 - 1
7-55229231-A-G c.1538A>G p.E513G Missense 13/28 - 1
7-55229234-G-C c.1541G>C p.G514A Missense 13/28 - 1
7-55229235-C-T c.1542C>T p.G514= Synonymous 13/28 - 1
7-55229236-T-G c.1543T>G p.C515G Missense 13/28 - 1
7-55229238-C-T c.1545C>T p.C515= Synonymous 13/28 - 1
7-55229240-G-A c.1547G>A p.W516* Nonsense 13/28 - 1
7-55229241-G-A c.1548G>A p.W516* Nonsense 13/28 - 1
7-55229240-G-T c.1547G>T p.W516L Missense 13/28 - 1
7-55229242-G-A c.1549G>A p.G517S Missense 13/28 - 1
7-55229243-G-C c.1550G>C p.G517A Missense 13/28 - 1
7-55229246-C-T c.1553C>T p.P518L Missense 13/28 - 6
7-55229247-G-A c.1554G>A p.P518= Synonymous 13/28 - 2
7-55229251-C-T c.1558C>T p.P520S Missense 13/28 - 1
7-55229253-C-T c.1560C>T p.P520= Synonymous 13/28 - 1
7-55229254-A-G c.1561A>G p.R521G Missense 13/28 - 1
7-55229254-AG-CT c.1561_1562inv p.R521L Missense 13/28 - 1
7-55229255-G-A c.1562G>A p.R521K Missense 13/28 - 120
7-55229255-G-C c.1562G>C p.R521T Missense 13/28 - 38
7-55229255-G-T c.1562G>T p.R521M Missense 13/28 - 38
7-55229256-G-C c.1563G>C p.R521S Missense 13/28 - 1
7-55229256-G-T c.1563G>T p.R521S Missense 13/28 - 1
7-55229257-G-T c.1564G>T p.D522Y Missense 13/28 - 1
7-55229262-C-G c.1569C>G p.C523W Missense 13/28 - 1
7-55229263-GT-AG c.1570_1571delinsAG p.V524S Missense 13/28 - 1
7-55229263-CG-C c.1570del p.V524Sfs*44 Frameshift 13/28 - 1
7-55229263-G-A c.1570G>A p.V524I Missense 13/28 - 1
7-55229266-TC-GA c.1573_1574inv p.S525D Missense 13/28 - 1
7-55229266-T-G c.1573T>G p.S525A Missense 13/28 - 1
7-55229267-C-T c.1574C>T p.S525F Missense 13/28 - 2
7-55229269-T-G c.1576T>G p.C526G Missense 13/28 - 1
7-55229270-G-C c.1577G>C p.C526S Missense 13/28 - 1
7-55229270-G-A c.1577G>A p.C526Y Missense 13/28 - 1
7-55229271-C-G c.1578C>G p.C526W Missense 13/28 - 1
7-55229272-C-T c.1579C>T p.R527W Missense 13/28 - 1
7-55229273-G-A c.1580G>A p.R527Q Missense 13/28 - 1
7-55229274-G-A c.1581G>A p.R527= Synonymous 13/28 - 1
7-55229275-A-G c.1582A>G p.N528D Missense 13/28 - 1
7-55229276-AT-GG c.1583_1584delinsGG p.N528R Missense 13/28 - 1
7-55229281-AG-GC c.1588_1589delinsGC p.S530A Missense 13/28 - 1
7-55229283-C-G c.1590C>G p.S530R Missense 13/28 - 1
7-55229283-C-A c.1590C>A p.S530R Missense 13/28 - 1
7-55229281-A-C c.1588A>C p.S530R Missense 13/28 - 1
7-55229284-CG-GC c.1591_1592delinsGC p.R531A Missense 13/28 - 1
7-55229284-C-T c.1591C>T p.R531* Nonsense 13/28 - 1
7-55229285-G-A c.1592G>A p.R531Q Missense 13/28 - 2
7-55229288-G-C c.1595G>C p.G532A Missense 13/28 - 1
7-55229290-AG-GC c.1597_1598delinsGC p.R533A Missense 13/28 - 2
7-55229292-G-A c.1599G>A p.R533= Synonymous 13/28 - 1
7-55229296-TG-CC c.1603_1604delinsCC p.C535P Missense 13/28 - 1
7-55229296-TG-AC c.1603_1604delinsAC p.C535T Missense 13/28 - 1
7-55229298-C-T c.1605C>T p.C535= Synonymous 13/28 - 1
7-55229295-A-ATGCTTCCC c.1605_1606insTTCCCTGC p.V536Ffs*35 Frameshift 13/28 - 1
7-55229299-G-A c.1606G>A p.V536M Missense 13/28 - 4
7-55229300-T-A c.1607T>A p.V536E Missense 13/28 - 1
7-55229300-T-C c.1607T>C p.V536A Missense 13/28 - 1
7-55229305-AA-GC c.1612_1613delinsGC p.K538A Missense 13/28 - 2
7-55229306-A-G c.1613A>G p.K538R Missense 13/28 - 1
7-55229306-A-T c.1613A>T p.K538M Missense 13/28 - 1
7-55229307-G-C c.1614G>C p.K538N Missense 13/28 - 1
7-55229307-G-T c.1614G>T p.K538N Missense 13/28 - 1
7-55229309-G-T c.1616G>T p.C539F Missense 13/28 - 1
7-55229314-C-T c.1621C>T p.L541F Missense 13/28 - 1
7-55229319-G-GT c.1626_1627insT p.E543* Nonsense 13/28 - 1
7-55229320-G-A c.1627G>A p.E543K Missense 13/28 - 2
7-55229320-G-ATGA c.1627delinsATGA p.E543delinsMK MultiAAMissense 13/28 - 1
7-55229320-G-T c.1627G>T p.E543* Nonsense 13/28 - 1
7-55229318-TGGA-T c.1628_1630del p.E543del InFrameDeletion 13/28 - 1
7-55229321-A-G c.1628A>G p.E543G Missense 13/28 - 1
7-55229322-G-GTA c.1629_1630insTA p.G544* SpliceDonorInsertion 13/28 - 1
7-55229329-G-A c.1631+5G>A - IntronicSNV - 13/27 1
7-55229543-T-C c.1631+219T>C - IntronicSNV - 13/27 12
7-55230105-C-T c.1631+781C>T - IntronicSNV - 13/27 9
7-55230840-A-G c.1632-586A>G - IntronicSNV - 13/27 2
7-55230840-A-T c.1632-586A>T - IntronicSNV - 13/27 2
7-55231426-T-C c.1632T>C p.G544= Synonymous 14/28 - 2
7-55231427-G-A c.1633G>A p.E545K Missense 14/28 - 62
7-55231427-G-T c.1633G>T p.E545* Nonsense 14/28 - 1
7-55231427-G-C c.1633G>C p.E545Q Missense 14/28 - 2
7-55231428-A-C c.1634A>C p.E545A Missense 14/28 - 4
7-55231428-A-G c.1634A>G p.E545G Missense 14/28 - 1
7-55231430-C-T c.1636C>T p.P546S Missense 14/28 - 3
7-55231430-C-A c.1636C>A p.P546T Missense 14/28 - 2
7-55231430-C-G c.1636C>G p.P546A Missense 14/28 - 1
7-55231431-C-T c.1637C>T p.P546L Missense 14/28 - 1
7-55231432-A-G c.1638A>G p.P546= Synonymous 14/28 - 1
7-55231433-AG-TA c.1639_1640delinsTA p.R547* Nonsense 14/28 - 1
7-55231433-AG-GC c.1639_1640delinsGC p.R547A Missense 14/28 - 1
7-55231436-G-C c.1642G>C p.E548Q Missense 14/28 - 1
7-55231436-GA-TC c.1642_1643inv p.E548S Missense 14/28 - 2
7-55231439-T-C c.1645T>C p.F549L Missense 14/28 - 2
7-55231441-T-A c.1647T>A p.F549L Missense 14/28 - 2
7-55231441-T-G c.1647T>G p.F549L Missense 14/28 - 2
7-55231440-T-C c.1646T>C p.F549S Missense 14/28 - 1
7-55231442-G-A c.1648G>A p.V550M Missense 14/28 - 1
7-55231443-T-A c.1649T>A p.V550E Missense 14/28 - 2
7-55231447-G-C c.1653G>C p.E551D Missense 14/28 - 1
7-55231449-AC-GG c.1655_1656delinsGG p.N552R Missense 14/28 - 1
7-55231449-A-C c.1655A>C p.N552T Missense 14/28 - 1
7-55231452-C-T c.1658C>T p.S553F Missense 14/28 - 1
7-55231454-G-C c.1660G>C p.E554Q Missense 14/28 - 1
7-55231460-AT-GC c.1666_1667delinsGC p.I556A Missense 14/28 - 1
7-55231461-T-A c.1667T>A p.I556K Missense 14/28 - 2
7-55231466-GTGC-G c.1672_1674del p.C558del InFrameDeletion 14/28 - 1
7-55231466-TG-GC c.1672_1673delinsGC p.C558A Missense 14/28 - 1
7-55231467-G-A c.1673G>A p.C558Y Missense 14/28 - 2
7-55231467-TGCCACC-T c.1673_1678del p.C558_P560delinsS MultiAAMissense 14/28 - 1
7-55231471-C-G c.1677C>G p.H559Q Missense 14/28 - 1
7-55231475-G-A c.1681G>A p.E561K Missense 14/28 - 1
7-55231475-G-C c.1681G>C p.E561Q Missense 14/28 - 1
7-55231482-T-C c.1688T>C p.L563P Missense 14/28 - 1
7-55231484-C-A c.1690C>A p.P564T Missense 14/28 - 1
7-55231484-C-G c.1690C>G p.P564A Missense 14/28 - 1
7-55231485-C-T c.1691C>T p.P564L Missense 14/28 - 2
7-55231487-C-G c.1693C>G p.Q565E Missense 14/28 - 1
7-55231490-G-A c.1696G>A p.A566T Missense 14/28 - 1
7-55231493-A-G c.1699A>G p.M567V Missense 14/28 - 1
7-55231495-G-C c.1701G>C p.M567I Missense 14/28 - 1
7-55231495-G-A c.1701G>A p.M567I Missense 14/28 - 1
7-55231495-G-T c.1701G>T p.M567I Missense 14/28 - 1
7-55231503-C-G c.1709C>G p.T570S Missense 14/28 - 1
7-55231506-G-C c.1712G>C p.C571S Missense 14/28 - 1
7-55231506-G-A c.1712G>A p.C571Y Missense 14/28 - 1
7-55231509-C-G c.1715C>G p.T572R Missense 14/28 - 2
7-55231511-G-T c.1717G>T p.G573* Nonsense 14/28 - 1
7-55231511-G-A c.1717G>A p.G573R Missense 14/28 - 1
7-55231511-G-C c.1717G>C p.G573R Missense 14/28 - 1
7-55231514-C-T c.1720C>T p.R574W Missense 14/28 - 2
7-55231514-CGG-AGC c.1720_1722delinsAGC p.R574S Missense 14/28 - 1
7-55231515-G-T c.1721G>T p.R574L Missense 14/28 - 2
7-55231588-G-A c.1722+72G>A - IntronicSNV - 14/27 1
7-55232246-T-C c.1723-727T>C - IntronicSNV - 14/27 3
7-55232333-A-G c.1723-640A>G - IntronicSNV - 14/27 3
7-55232973-G-A c.1723G>A p.G575R Missense 15/28 - 1
7-55232973-G-C c.1723G>C p.G575R Missense 15/28 - 1
7-55232974-G-A c.1724G>A p.G575E Missense 15/28 - 1
7-55232976-C-A c.1726C>A p.P576T Missense 15/28 - 1
7-55232981-C-A c.1731C>A p.D577E Missense 15/28 - 1
7-55232982-A-G c.1732A>G p.N578D Missense 15/28 - 1
7-55232984-AC-A c.1734del p.C579Vfs*126 Frameshift 15/28 - 1
7-55232986-G-A c.1736G>A p.C579Y Missense 15/28 - 2
7-55232988-A-G c.1738A>G p.I580V Missense 15/28 - 1
7-55232991-CA-AC c.1741_1742delinsAC p.Q581T Missense 15/28 - 1
7-55232993-G-T c.1743G>T p.Q581H Missense 15/28 - 1
7-55233001-A-G c.1751A>G p.H584R Missense 15/28 - 1
7-55233004-A-AAATCTGT c.1754_1755insAATCTGT p.Y585* Nonsense 15/28 - 1
7-55233006-A-G c.1756A>G p.I586V Missense 15/28 - 2
7-55233009-G-C c.1759G>C p.D587H Missense 15/28 - 3
7-55233012-G-A c.1762G>A p.G588S Missense 15/28 - 4
7-55233013-G-A c.1763G>A p.G588D Missense 15/28 - 1
7-55233015-C-T c.1765C>T p.P589S Missense 15/28 - 1
7-55233016-C-T c.1766C>T p.P589L Missense 15/28 - 3
7-55233016-C-A c.1766C>A p.P589H Missense 15/28 - 1
7-55233013-GC-G c.1768del p.H590Tfs*115 Frameshift 15/28 - 1
7-55233019-A-G c.1769A>G p.H590R Missense 15/28 - 1
7-55233021-TG-AC c.1771_1772delinsAC p.C591T Missense 15/28 - 1
7-55233024-G-A c.1774G>A p.V592I Missense 15/28 - 10
7-55233024-G-T c.1774G>T p.V592F Missense 15/28 - 1
7-55233025-T-C c.1775T>C p.V592A Missense 15/28 - 3
7-55233025-TC-AG c.1775_1776delinsAG p.V592E Missense 15/28 - 2
7-55233028-A-G c.1778A>G p.K593R Missense 15/28 - 1
7-55233028-A-C c.1778A>C p.K593T Missense 15/28 - 1
7-55233029-G-T c.1779G>T p.K593N Missense 15/28 - 1
7-55233031-C-T c.1781C>T p.T594I Missense 15/28 - 1
7-55233032-C-A c.1782C>A p.T594= Synonymous 15/28 - 1
7-55233032-C-G c.1782C>G p.T594= Synonymous 15/28 - 1
7-55233032-C-T c.1782C>T p.T594= Synonymous 15/28 - 1
7-55233033-T-G c.1783T>G p.C595G Missense 15/28 - 1
7-55233034-G-T c.1784G>T p.C595F Missense 15/28 - 1
7-55233034-G-A c.1784G>A p.C595Y Missense 15/28 - 2
7-55233035-C-G c.1785C>G p.C595W Missense 15/28 - 1
7-55233036-C-T c.1786C>T p.P596S Missense 15/28 - 1
7-55233037-C-T c.1787C>T p.P596L Missense 15/28 - 18
7-55233037-C-G c.1787C>G p.P596R Missense 15/28 - 1
7-55233038-G-C c.1788G>C p.P596= Synonymous 15/28 - 3
7-55233038-G-A c.1788G>A p.P596= Synonymous 15/28 - 3
7-55233038-G-T c.1788G>T p.P596= Synonymous 15/28 - 1
7-55233039-G-C c.1789G>C p.A597P Missense 15/28 - 2
7-55233039-G-T c.1789G>T p.A597S Missense 15/28 - 1
7-55233039-G-A c.1789G>A p.A597T Missense 15/28 - 1
7-55233040-C-T c.1790C>T p.A597V Missense 15/28 - 1
7-55233042-G-A c.1792G>A p.G598R Missense 15/28 - 1
7-55233042-G-C c.1792G>C p.G598R Missense 15/28 - 1
7-55233042-G-T c.1792G>T p.G598* Nonsense 15/28 - 1
7-55233043-G-T c.1793G>T p.G598V Missense 15/28 - 72
7-55233043-G-C c.1793G>C p.G598A Missense 15/28 - 3
7-55233043-GA-AC c.1793_1794delinsAC p.G598D Missense 15/28 - 4
7-55233043-G-A c.1793G>A p.G598E Missense 15/28 - 1
7-55233045-GTC-ATG c.1795_1797delinsATG p.V599M Missense 15/28 - 2
7-55233045-GTC-AAG c.1795_1797delinsAAG p.V599K Missense 15/28 - 1
7-55233046-T-A c.1796T>A p.V599D Missense 15/28 - 3
7-55233046-TC-AG c.1796_1797delinsAG p.V599E Missense 15/28 - 66
7-55233048-A-G c.1798A>G p.M600V Missense 15/28 - 1
7-55233049-T-C c.1799T>C p.M600T Missense 15/28 - 3
7-55233049-T-A c.1799T>A p.M600K Missense 15/28 - 4
7-55233051-GGA-AGC c.1801_1803delinsAGC p.G601S Missense 15/28 - 1
7-55233052-G-A c.1802G>A p.G601E Missense 15/28 - 2
7-55233054-G-A c.1804G>A p.E602K Missense 15/28 - 2
7-55233054-GA-AC c.1804_1805delinsAC p.E602T Missense 15/28 - 1
7-55233055-A-C c.1805A>C p.E602A Missense 15/28 - 1
7-55233057-A-G c.1807A>G p.N603D Missense 15/28 - 1
7-55233060-A-G c.1810A>G p.N604D Missense 15/28 - 2
7-55233061-A-C c.1811A>C p.N604T Missense 15/28 - 1
7-55233063-A-G c.1813A>G p.T605A Missense 15/28 - 1
7-55233064-C-A c.1814C>A p.T605N Missense 15/28 - 1
7-55233065-C-A c.1815C>A p.T605= Synonymous 15/28 - 1
7-55233065-C-G c.1815C>G p.T605= Synonymous 15/28 - 1
7-55233065-C-T c.1815C>T p.T605= Synonymous 15/28 - 1
7-55233074-GAAGT-G c.1826_1829del p.K609Tfs*95 Frameshift 15/28 - 1
7-55233079-A-G c.1829A>G p.Y610C Missense 15/28 - 3
7-55233081-G-C c.1831G>C p.A611P Missense 15/28 - 1
7-55233081-G-A c.1831G>A p.A611T Missense 15/28 - 4
7-55233087-G-A c.1837G>A p.A613T Missense 15/28 - 1
7-55233089-C-A c.1839C>A p.A613= Synonymous 15/28 - 2
7-55233089-C-T c.1839C>T p.A613= Synonymous 15/28 - 4
7-55233089-C-G c.1839C>G p.A613= Synonymous 15/28 - 1
7-55233090-G-A c.1840G>A p.G614S Missense 15/28 - 2
7-55233091-G-A c.1841G>A p.G614D Missense 15/28 - 1
7-55233096-G-C c.1846G>C p.V616L Missense 15/28 - 1
7-55233096-G-T c.1846G>T p.V616L Missense 15/28 - 1
7-55233098-TG-T c.1848del p.C617Afs*88 Frameshift 15/28 - 1
7-55233099-T-C c.1849T>C p.C617R Missense 15/28 - 1
7-55233100-G-A c.1850G>A p.C617Y Missense 15/28 - 1
7-55233102-C-T c.1852C>T p.H618Y Missense 15/28 - 1
7-55233103-A-C c.1853A>C p.H618P Missense 15/28 - 1
7-55233103-A-T c.1853A>T p.H618L Missense 15/28 - 1
7-55233106-TG-CA c.1856_1857inv p.L619P Missense 15/28 - 1
7-55233107-G-T c.1857G>T p.L619= Synonymous 15/28 - 1
7-55233107-G-A c.1857G>A p.L619= Synonymous 15/28 - 1
7-55233107-G-C c.1857G>C p.L619= Synonymous 15/28 - 1
7-55233105-C-T c.1855C>T p.L619= Synonymous 15/28 - 1
7-55233108-TG-GC c.1858_1859delinsGC p.C620A Missense 15/28 - 2
7-55233108-T-A c.1858T>A p.C620S Missense 15/28 - 1
7-55233109-G-C c.1859G>C p.C620S Missense 15/28 - 1
7-55233108-T-C c.1858T>C p.C620R Missense 15/28 - 1
7-55233109-G-A c.1859G>A p.C620Y Missense 15/28 - 6
7-55233110-C-G c.1860C>G p.C620W Missense 15/28 - 1
7-55233112-A-G c.1862A>G p.H621R Missense 15/28 - 1
7-55233114-C-T c.1864C>T p.P622S Missense 15/28 - 1
7-55233117-A-G c.1867A>G p.N623D Missense 15/28 - 1
7-55233119-C-A c.1869C>A p.N623K Missense 15/28 - 1
7-55233120-TG-GC c.1870_1871delinsGC p.C624A Missense 15/28 - 2
7-55233120-TG-AC c.1870_1871delinsAC p.C624T Missense 15/28 - 1
7-55233120-T-A c.1870T>A p.C624S Missense 15/28 - 1
7-55233121-G-C c.1871G>C p.C624S Missense 15/28 - 1
7-55233121-G-A c.1871G>A p.C624Y Missense 15/28 - 1
7-55233121-G-T c.1871G>T p.C624F Missense 15/28 - 3
7-55233126-T-C c.1876T>C p.Y626H Missense 15/28 - 1
7-55233128-C-T c.1878C>T p.Y626= Synonymous 15/28 - 1
7-55233129-G-T c.1879G>T p.G627* Nonsense 15/28 - 1
7-55233129-G-A c.1879G>A p.G627R Missense 15/28 - 1
7-55233129-G-C c.1879G>C p.G627R Missense 15/28 - 1
7-55233130-G-A c.1880G>A p.G627E Missense 15/28 - 1
7-55233132-T-C c.1880+2T>C - IntronicSNV - 15/27 1
7-55233140-A-G c.1880+10A>G - IntronicSNV - 15/27 1
7-55233915-A-T c.1880+785A>T - IntronicSNV - 15/27 1
7-55236020-T-C c.1881-2848T>C - IntronicSNV - 15/27 1
7-55237283-A-G c.1881-1585A>G - IntronicSNV - 15/27 2
7-55238087-C-T c.1881-781C>T - IntronicSNV - 15/27 1
7-55238147-G-A c.1881-721G>A - IntronicSNV - 15/27 1
7-55238212-T-A c.1881-656T>A - IntronicSNV - 15/27 1
7-55238212-T-C c.1881-656T>C - IntronicSNV - 15/27 1
7-55238268-G-A c.1881-600G>A - IntronicSNV - 15/27 7
7-55238268-G-C c.1881-600G>C - IntronicSNV - 15/27 7
7-55238268-G-T c.1881-600G>T - IntronicSNV - 15/27 7
7-55238464-T-A c.1881-404T>A - IntronicSNV - 15/27 2
7-55238464-T-G c.1881-404T>G - IntronicSNV - 15/27 2
7-55238866-A-C c.1881-2A>C - IntronicSNV - 15/27 1
7-55238866-A-G c.1881-2A>G - IntronicSNV - 15/27 1
7-55238870-G-A c.1883G>A p.C628Y Missense 16/28 - 2
7-55238870-G-T c.1883G>T p.C628F Missense 16/28 - 5
7-55238874-T-A c.1887T>A p.T629= Synonymous 16/28 - 5
7-55238874-T-G c.1887T>G p.T629= Synonymous 16/28 - 6
7-55238874-T-C c.1887T>C p.T629= Synonymous 16/28 - 2
7-55238879-C-G c.1892C>G p.P631R Missense 16/28 - 1
7-55238883-T-G c.1896T>G p.G632= Synonymous 16/28 - 2
7-55238883-T-A c.1896T>A p.G632= Synonymous 16/28 - 1
7-55238883-T-C c.1896T>C p.G632= Synonymous 16/28 - 1
7-55238884-C-G c.1897C>G p.L633V Missense 16/28 - 1
7-55238884-C-T c.1897C>T p.L633F Missense 16/28 - 2
7-55238882-GTCT-G c.1897_1899del p.L633del InFrameDeletion 16/28 - 2
7-55238891-G-A c.1904G>A p.G635D Missense 16/28 - 1
7-55238894-G-A c.1907G>A p.C636Y Missense 16/28 - 3
7-55238894-G-T c.1907G>T p.C636F Missense 16/28 - 1
7-55238895-T-G c.1908T>G p.C636W Missense 16/28 - 1
7-55238896-C-T c.1909C>T p.P637S Missense 16/28 - 1
7-55238899-A-C c.1912A>C p.T638P Missense 16/28 - 1
7-55238897-CA-C c.1912del p.T638Rfs*67 Frameshift 16/28 - 1
7-55238900-C-T c.1913C>T p.T638M Missense 16/28 - 5
7-55238904-T-G c.1917T>G p.N639K Missense 16/28 - 1
7-55238904-T-A c.1917T>A p.N639K Missense 16/28 - 1
7-55238908-T-C c.1919+2T>C - IntronicSNV - 16/27 1
7-55239979-G-A c.1920-697G>A - IntronicSNV - 16/27 1
7-55240461-G-C c.1920-215G>C - IntronicSNV - 16/27 3
7-55240678-C-A c.1922C>A p.P641H Missense 17/28 - 1
7-55240680-A-G c.1924A>G p.K642E Missense 17/28 - 8
7-55240680-AA-GG c.1924_1925delinsGG p.K642G Missense 17/28 - 2
7-55240681-A-G c.1925A>G p.K642R Missense 17/28 - 1
7-55240683-A-G c.1927A>G p.I643V Missense 17/28 - 3
7-55240684-T-C c.1928T>C p.I643T Missense 17/28 - 1
7-55240685-C-A c.1929C>A p.I643= Synonymous 17/28 - 1
7-55240685-C-T c.1929C>T p.I643= Synonymous 17/28 - 1
7-55240686-C-T c.1930C>T p.P644S Missense 17/28 - 1
7-55240687-C-T c.1931C>T p.P644L Missense 17/28 - 3
7-55240688-G-T c.1932G>T p.P644= Synonymous 17/28 - 2
7-55240688-G-A c.1932G>A p.P644= Synonymous 17/28 - 1
7-55240688-G-C c.1932G>C p.P644= Synonymous 17/28 - 1
7-55240689-T-G c.1933T>G p.S645A Missense 17/28 - 1
7-55240690-C-G c.1934C>G p.S645C Missense 17/28 - 11
7-55240693-T-G c.1937T>G p.I646S Missense 17/28 - 2
7-55240693-TC-GG c.1937_1938delinsGG p.I646R Missense 17/28 - 1
7-55240694-C-T c.1938C>T p.I646= Synonymous 17/28 - 1
7-55240694-C-A c.1938C>A p.I646= Synonymous 17/28 - 1
7-55240692-A-ATCAAG c.1938_1939insAAGTC p.A647Kfs*60 Frameshift 17/28 - 1
7-55240695-G-A c.1939G>A p.A647T Missense 17/28 - 6
7-55240696-C-T c.1940C>T p.A647V Missense 17/28 - 1
7-55240699-C-T c.1943C>T p.T648I Missense 17/28 - 1
7-55240700-T-G c.1944T>G p.T648= Synonymous 17/28 - 1
7-55240702-G-T c.1946G>T p.G649V Missense 17/28 - 1
7-55240702-G-C c.1946G>C p.G649A Missense 17/28 - 2
7-55240707-G-C c.1951G>C p.V651L Missense 17/28 - 1
7-55240707-G-T c.1951G>T p.V651L Missense 17/28 - 1
7-55240707-G-A c.1951G>A p.V651M Missense 17/28 - 4
7-55240709-G-A c.1953G>A p.V651= Synonymous 17/28 - 2
7-55240710-G-T c.1954G>T p.G652W Missense 17/28 - 3
7-55240711-GG-AC c.1955_1956delinsAC p.G652D Missense 17/28 - 1
7-55240711-G-T c.1955G>T p.G652V Missense 17/28 - 1
7-55240711-G-A c.1955G>A p.G652E Missense 17/28 - 1
7-55240712-G-A c.1956G>A p.G652= Synonymous 17/28 - 1
7-55240713-G-C c.1957G>C p.A653P Missense 17/28 - 1
7-55240719-C-T c.1963C>T p.L655F Missense 17/28 - 1
7-55240719-C-G c.1963C>G p.L655V Missense 17/28 - 1
7-55240720-T-G c.1964T>G p.L655R Missense 17/28 - 1
7-55240729-T-A c.1973T>A p.L658Q Missense 17/28 - 1
7-55240729-T-G c.1973T>G p.L658R Missense 17/28 - 1
7-55240731-G-C c.1975G>C p.V659L Missense 17/28 - 1
7-55240731-G-T c.1975G>T p.V659L Missense 17/28 - 1
7-55240732-T-A c.1976T>A p.V659E Missense 17/28 - 6
7-55240732-T-C c.1976T>C p.V659A Missense 17/28 - 1
7-55240734-G-A c.1978G>A p.V660M Missense 17/28 - 1
7-55240735-T-A c.1979T>A p.V660E Missense 17/28 - 6
7-55240737-GC-TG c.1981_1982delinsTG p.A661C Missense 17/28 - 3
7-55240737-GC-AT c.1981_1982delinsAT p.A661I Missense 17/28 - 1
7-55240737-G-T c.1981G>T p.A661S Missense 17/28 - 1
7-55240744-G-A c.1988G>A p.G663E Missense 17/28 - 2
7-55240746-GA-G c.1990del p.I664Sfs*41 Frameshift 17/28 - 1
7-55240746-A-T c.1990A>T p.I664F Missense 17/28 - 2
7-55240748-C-T c.1992C>T p.I664= Synonymous 17/28 - 1
7-55240749-G-A c.1993G>A p.G665S Missense 17/28 - 1
7-55240750-G-C c.1994G>C p.G665A Missense 17/28 - 1
7-55240750-G-A c.1994G>A p.G665D Missense 17/28 - 2
7-55240750-G-T c.1994G>T p.G665V Missense 17/28 - 1
7-55240753-T-C c.1997T>C p.L666P Missense 17/28 - 1
7-55240754-C-T c.1998C>T p.L666= Synonymous 17/28 - 1
7-55240754-C-G c.1998C>G p.L666= Synonymous 17/28 - 1
7-55240754-C-A c.1998C>A p.L666= Synonymous 17/28 - 1
7-55240756-T-G c.2000T>G p.F667C Missense 17/28 - 2
7-55240756-TCATGCGAAGGCGC-T c.2003_2015del p.M668Tfs*33 Frameshift 17/28 - 1
7-55240761-CGA-TGT c.2005_2007delinsTGT p.R669C Missense 17/28 - 1
7-55240761-C-T c.2005C>T p.R669* Nonsense 17/28 - 3
7-55240762-G-A c.2006G>A p.R669Q Missense 17/28 - 5
7-55240762-CG-C c.2006del p.R669Qfs*36 Frameshift 17/28 - 1
7-55240764-A-T c.2008A>T p.R670W Missense 17/28 - 7
7-55240767-C-T c.2011C>T p.R671C Missense 17/28 - 4
7-55240768-G-A c.2012G>A p.R671H Missense 17/28 - 4
7-55240770-C-T c.2014C>T p.H672Y Missense 17/28 - 1
7-55240775-C-T c.2019C>T p.I673= Synonymous 17/28 - 2
7-55240776-G-T c.2020G>T p.V674F Missense 17/28 - 2
7-55240776-G-A c.2020G>A p.V674I Missense 17/28 - 1
7-55240779-C-T c.2023C>T p.R675W Missense 17/28 - 1
7-55240779-CG-GA c.2023_2024delinsGA p.R675E Missense 17/28 - 1
7-55240780-G-A c.2024G>A p.R675Q Missense 17/28 - 3
7-55240780-GG-AT c.2024_2025delinsAT p.R675H Missense 17/28 - 1
7-55240783-A-G c.2027A>G p.K676R Missense 17/28 - 1
7-55240784-G-A c.2028G>A p.K676= Synonymous 17/28 - 1
7-55240785-C-T c.2029C>T p.R677C Missense 17/28 - 5
7-55240785-CGC-TGG c.2029_2031delinsTGG p.R677W Missense 17/28 - 1
7-55240785-CG-GC c.2029_2030delinsGC p.R677A Missense 17/28 - 1
7-55240786-G-A c.2030G>A p.R677H Missense 17/28 - 8
7-55240788-A-G c.2032A>G p.T678A Missense 17/28 - 3
7-55240788-A-C c.2032A>C p.T678P Missense 17/28 - 1
7-55240789-C-T c.2033C>T p.T678M Missense 17/28 - 2
7-55240791-CTG-TTT c.2035_2037delinsTTT p.L679F Missense 17/28 - 4
7-55240791-CT-GC c.2035_2036delinsGC p.L679A Missense 17/28 - 1
7-55240794-C-A c.2038C>A p.R680= Synonymous 17/28 - 1
7-55240796-G-A c.2040G>A p.R680= Synonymous 17/28 - 1
7-55240796-G-C c.2040G>C p.R680= Synonymous 17/28 - 1
7-55240796-G-T c.2040G>T p.R680= Synonymous 17/28 - 1
7-55240794-C-T c.2038C>T p.R680W Missense 17/28 - 3
7-55240795-G-A c.2039G>A p.R680Q Missense 17/28 - 6
7-55240799-G-A c.2043G>A p.R681= Synonymous 17/28 - 1
7-55240800-C-A c.2044C>A p.L682M Missense 17/28 - 1
7-55240804-T-C c.2048T>C p.L683P Missense 17/28 - 1
7-55240807-A-G c.2051A>G p.Q684R Missense 17/28 - 1
7-55240809-G-A c.2053G>A p.E685K Missense 17/28 - 1
7-55240809-GA-TC c.2053_2054inv p.E685S Missense 17/28 - 2
7-55240810-A-G c.2054A>G p.E685G Missense 17/28 - 3
7-55240815-G-A c.2059G>A p.E687K Missense 17/28 - 1
7-55240816-A-C c.2060A>C p.E687A Missense 17/28 - 1
7-55240863-A-T c.2061+46A>T - IntronicSNV - 17/27 1
7-55241510-C-A c.2062-104C>A - IntronicSNV - 17/27 1
7-55241614-C-T c.2062C>T p.L688F Missense 18/28 - 4
7-55241615-T-C c.2063T>C p.L688P Missense 18/28 - 4
7-55241617-G-C c.2065G>C p.V689L Missense 18/28 - 9
7-55241617-G-T c.2065G>T p.V689L Missense 18/28 - 10
7-55241617-G-A c.2065G>A p.V689M Missense 18/28 - 15
7-55241617-GTG-TTT c.2065_2067delinsTTT p.V689F Missense 18/28 - 1
7-55241618-T-C c.2066T>C p.V689A Missense 18/28 - 1
7-55241619-G-A c.2067G>A p.V689= Synonymous 18/28 - 1
7-55241619-G-C c.2067G>C p.V689= Synonymous 18/28 - 1
7-55241619-G-T c.2067G>T p.V689= Synonymous 18/28 - 1
7-55241620-G-A c.2068G>A p.E690K Missense 18/28 - 6
7-55241622-G-C c.2070G>C p.E690D Missense 18/28 - 1
7-55241622-G-T c.2070G>T p.E690D Missense 18/28 - 1
7-55241623-C-A c.2071C>A p.P691T Missense 18/28 - 1
7-55241623-C-T c.2071C>T p.P691S Missense 18/28 - 4
7-55241626-C-G c.2074C>G p.L692V Missense 18/28 - 14
7-55241626-C-T c.2074C>T p.L692F Missense 18/28 - 1
7-55241627-T-C c.2075T>C p.L692P Missense 18/28 - 4
7-55241628-TTACACCCAGTGGAGA-T c.2076_2090del p.T693_E697del InFrameDeletion 18/28 - 1
7-55241629-A-G c.2077A>G p.T693A Missense 18/28 - 2
7-55241629-A-T c.2077A>T p.T693S Missense 18/28 - 1
7-55241629-TACACCCAGTGGAGAA-T c.2077_2091del p.T693_E697del InFrameDeletion 18/28 - 2
7-55241627-TTACACCCAG-T c.2077_2085del p.T693_S695del InFrameDeletion 18/28 - 1
7-55241630-C-T c.2078C>T p.T693I Missense 18/28 - 1
7-55241632-C-T c.2080C>T p.P694S Missense 18/28 - 4
7-55241633-C-T c.2081C>T p.P694L Missense 18/28 - 5
7-55241633-CCCAGTGGAGAAGCTCCCA-C c.2081_2098del p.P694_N700delinsH MultiAAMissense 18/28 - 1
7-55241634-C-A c.2082C>A p.P694= Synonymous 18/28 - 1
7-55241635-A-G c.2083A>G p.S695G Missense 18/28 - 1
7-55241636-G-A c.2084G>A p.S695N Missense 18/28 - 2
7-55241637-T-G c.2085T>G p.S695R Missense 18/28 - 1
7-55241637-T-A c.2085T>A p.S695R Missense 18/28 - 1
7-55241635-A-C c.2083A>C p.S695R Missense 18/28 - 1
7-55241638-G-A c.2086G>A p.G696R Missense 18/28 - 2
7-55241638-G-C c.2086G>C p.G696R Missense 18/28 - 2
7-55241639-G-C c.2087G>C p.G696A Missense 18/28 - 4
7-55241641-G-C c.2089G>C p.E697Q Missense 18/28 - 1
7-55241644-G-A c.2092G>A p.A698T Missense 18/28 - 5
7-55241647-C-T c.2095C>T p.P699S Missense 18/28 - 6
7-55241647-CC-GG c.2095_2096inv p.P699G Missense 18/28 - 1
7-55241648-C-G c.2096C>G p.P699R Missense 18/28 - 1
7-55241650-A-G c.2098A>G p.N700D Missense 18/28 - 7
7-55241651-A-G c.2099A>G p.N700S Missense 18/28 - 2
7-55241652-C-T c.2100C>T p.N700= Synonymous 18/28 - 1
7-55241652-ACCAAGCTCTCTTGAG-A c.2100_2114del p.N700_R705delinsK MultiAAMissense 18/28 - 1
7-55241653-C-A c.2101C>A p.Q701K Missense 18/28 - 2
7-55241653-C-T c.2101C>T p.Q701* Nonsense 18/28 - 1
7-55241653-CCAAGCTCTCTTGAGG-C c.2101_2115del p.Q701_R705del InFrameDeletion 18/28 - 2
7-55241651-ACCAAGCTCT-A c.2101_2109del p.Q701_L703del InFrameDeletion 18/28 - 1
7-55241653-CA-AC c.2101_2102delinsAC p.Q701T Missense 18/28 - 1
7-55241654-A-T c.2102A>T p.Q701L Missense 18/28 - 7
7-55241654-A-G c.2102A>G p.Q701R Missense 18/28 - 2
7-55241654-CAA-C c.2102_2103del p.Q701Rfs*10 Frameshift 18/28 - 1
7-55241656-G-A c.2104G>A p.A702T Missense 18/28 - 2
7-55241656-G-T c.2104G>T p.A702S Missense 18/28 - 5
7-55241657-C-T c.2105C>T p.A702V Missense 18/28 - 4
7-55241657-GCTCTCTTGAGGATCTTGA-G c.2105_2122del p.A702_K708delinsE MultiAAMissense 18/28 - 1
7-55241657-C-A c.2105C>A p.A702D Missense 18/28 - 3
7-55241658-T-A c.2106T>A p.A702= Synonymous 18/28 - 1
7-55241658-T-C c.2106T>C p.A702= Synonymous 18/28 - 1
7-55241658-T-G c.2106T>G p.A702= Synonymous 18/28 - 1
7-55241659-C-T c.2107C>T p.L703F Missense 18/28 - 6
7-55241659-C-G c.2107C>G p.L703V Missense 18/28 - 2
7-55241660-T-C c.2108T>C p.L703P Missense 18/28 - 6
7-55241661-C-T c.2109C>T p.L703= Synonymous 18/28 - 1
7-55241662-TTG-AAC c.2110_2112delinsAAC p.L704N Missense 18/28 - 9
7-55241663-T-C c.2111T>C p.L704S Missense 18/28 - 2
7-55241665-A-G c.2113A>G p.R705G Missense 18/28 - 3
7-55241666-G-A c.2114G>A p.R705K Missense 18/28 - 4
7-55241667-G-T c.2115G>T p.R705S Missense 18/28 - 1
7-55241667-G-C c.2115G>C p.R705S Missense 18/28 - 1
7-55241668-ATC-CAA c.2116_2118delinsCAA p.I706Q Missense 18/28 - 6
7-55241668-AT-TA c.2116_2117delinsTA p.I706Y Missense 18/28 - 1
7-55241669-T-C c.2117T>C p.I706T Missense 18/28 - 14
7-55241669-T-G c.2117T>G p.I706S Missense 18/28 - 1
7-55241671-TT-AG c.2119_2120delinsAG p.L707R Missense 18/28 - 1
7-55241672-T-C c.2120T>C p.L707S Missense 18/28 - 4
7-55241672-T-G c.2120T>G p.L707W Missense 18/28 - 4
7-55241673-G-T c.2121G>T p.L707F Missense 18/28 - 3
7-55241673-G-C c.2121G>C p.L707F Missense 18/28 - 3
7-55241674-A-G c.2122A>G p.K708E Missense 18/28 - 2
7-55241675-A-G c.2123A>G p.K708R Missense 18/28 - 1
7-55241675-A-T c.2123A>T p.K708M Missense 18/28 - 3
7-55241675-A-C c.2123A>C p.K708T Missense 18/28 - 1
7-55241676-G-C c.2124G>C p.K708N Missense 18/28 - 4
7-55241676-G-T c.2124G>T p.K708N Missense 18/28 - 5
7-55241676-G-GT c.2124_2125insT p.E709* Nonsense 18/28 - 1
7-55241677-G-A c.2125G>A p.E709K Missense 18/28 - 132
7-55241677-G-T c.2125G>T p.E709* Nonsense 18/28 - 52
7-55241677-G-C c.2125G>C p.E709Q Missense 18/28 - 10
7-55241677-GAA-CAT c.2125_2127delinsCAT p.E709H Missense 18/28 - 10
7-55241677-GAA-ATG c.2125_2127delinsATG p.E709M Missense 18/28 - 1
7-55241677-GGAAAC-G c.2125_2129del p.E709* Frameshift 18/28 - 1
7-55241678-A-C c.2126A>C p.E709A Missense 18/28 - 99
7-55241678-A-G c.2126A>G p.E709G Missense 18/28 - 45
7-55241678-A-T c.2126A>T p.E709V Missense 18/28 - 26
7-55241678-GAAA-G c.2126_2128del p.E709_T710delinsA MultiAAMissense 18/28 - 1
7-55241679-AAAC-A c.2127_2129del p.E709_T710delinsD MultiAAMissense 18/28 - 18
7-55241679-A-C c.2127A>C p.E709D Missense 18/28 - 6
7-55241679-A-T c.2127A>T p.E709D Missense 18/28 - 4
7-55241680-AACT-A c.2128_2130del p.T710del InFrameDeletion 18/28 - 4
7-55241680-A-G c.2128A>G p.T710A Missense 18/28 - 2
7-55241676-GGAAACT-G c.2128_2133del p.T710_E711del InFrameDeletion 18/28 - 1
7-55241681-C-T c.2129C>T p.T710I Missense 18/28 - 2
7-55241681-C-G c.2129C>G p.T710S Missense 18/28 - 1
7-55241680-A-T c.2128A>T p.T710S Missense 18/28 - 1
7-55241682-T-C c.2130T>C p.T710= Synonymous 18/28 - 1
7-55241683-G-A c.2131G>A p.E711K Missense 18/28 - 5
7-55241684-A-T c.2132A>T p.E711V Missense 18/28 - 4
7-55241684-A-C c.2132A>C p.E711A Missense 18/28 - 1
7-55241684-A-G c.2132A>G p.E711G Missense 18/28 - 1
7-55241686-T-C c.2134T>C p.F712L Missense 18/28 - 5
7-55241688-C-A c.2136C>A p.F712L Missense 18/28 - 4
7-55241688-C-G c.2136C>G p.F712L Missense 18/28 - 4
7-55241686-TTC-CAA c.2134_2136delinsCAA p.F712Q Missense 18/28 - 1
7-55241687-T-G c.2135T>G p.F712C Missense 18/28 - 1
7-55241687-T-C c.2135T>C p.F712S Missense 18/28 - 5
7-55241688-C-T c.2136C>T p.F712= Synonymous 18/28 - 1
7-55241689-A-G c.2137A>G p.K713E Missense 18/28 - 2
7-55241689-AAA-CAT c.2137_2139delinsCAT p.K713H Missense 18/28 - 1
7-55241689-A-ATGGCCAGCG c.2137_2138insTGGCCAGCG p.K713delinsMASE MultiAAMissense 18/28 - 1
7-55241689-AAA-TTT c.2137_2139inv p.K713F Missense 18/28 - 1
7-55241690-A-G c.2138A>G p.K713R Missense 18/28 - 1
7-55241691-A-C c.2139A>C p.K713N Missense 18/28 - 1
7-55241691-A-T c.2139A>T p.K713N Missense 18/28 - 1
7-55241692-A-G c.2140A>G p.K714E Missense 18/28 - 4
7-55241693-A-G c.2141A>G p.K714R Missense 18/28 - 2
7-55241692-A-AACAGCGTGG c.2141_2142insCAGCGTGGA p.K714delinsNSVE MultiAAMissense 18/28 - 1
7-55241694-G-C c.2142G>C p.K714N Missense 18/28 - 3
7-55241694-G-T c.2142G>T p.K714N Missense 18/28 - 5
7-55241695-A-G c.2143A>G p.I715V Missense 18/28 - 2
7-55241695-A-T c.2143A>T p.I715F Missense 18/28 - 1
7-55241696-T-G c.2144T>G p.I715S Missense 18/28 - 3
7-55241697-C-G c.2145C>G p.I715M Missense 18/28 - 1
7-55241698-A-G c.2146A>G p.K716E Missense 18/28 - 2
7-55241699-A-G c.2147A>G p.K716R Missense 18/28 - 1
7-55241699-A-AGGACAACCC c.2147_2148insGGACAACCC p.K716_V717insDNP InFrameInsertion 18/28 - 1
7-55241701-G-C c.2149G>C p.V717L Missense 18/28 - 1
7-55241701-G-T c.2149G>T p.V717L Missense 18/28 - 1
7-55241701-GTG-ATC c.2149_2151delinsATC p.V717I Missense 18/28 - 4
7-55241701-GTG-TTT c.2149_2151delinsTTT p.V717F Missense 18/28 - 3
7-55241700-A-AGACAACCCC c.2149_2150insACAACCCCG p.K716_V717insDNP InFrameInsertion 18/28 - 1
7-55241701-G-A c.2149G>A p.V717M Missense 18/28 - 1
7-55241702-T-C c.2150T>C p.V717A Missense 18/28 - 2
7-55241702-T-G c.2150T>G p.V717G Missense 18/28 - 1
7-55241704-CT-TA c.2152_2153delinsTA p.L718* Nonsense 18/28 - 7
7-55241704-C-G c.2152C>G p.L718V Missense 18/28 - 39
7-55241704-C-A c.2152C>A p.L718M Missense 18/28 - 7
7-55241704-CT-GC c.2152_2153delinsGC p.L718A Missense 18/28 - 3
7-55241704-CTG-TTT c.2152_2154delinsTTT p.L718F Missense 18/28 - 1
7-55241704-CTG-AAC c.2152_2154delinsAAC p.L718N Missense 18/28 - 1
7-55241705-T-A c.2153T>A p.L718Q Missense 18/28 - 137
7-55241705-T-C c.2153T>C p.L718P Missense 18/28 - 9
7-55241705-T-G c.2153T>G p.L718R Missense 18/28 - 1
7-55241706-G-C c.2154G>C p.L718= Synonymous 18/28 - 1
7-55241706-GG-TA c.2154_2155delinsTA p.G719S Missense 18/28 - 1
7-55241706-G-T c.2154G>T p.L718= Synonymous 18/28 - 1
7-55241707-G-A c.2155G>A p.G719S Missense 18/28 - 565
7-55241707-GGC-TGA c.2155_2157delinsTGA p.G719* Nonsense 18/28 - 916
7-55241707-G-T c.2155G>T p.G719C Missense 18/28 - 353
7-55241707-G-C c.2155G>C p.G719R Missense 18/28 - 12
7-55241707-GG-AA c.2155_2156delinsAA p.G719N Missense 18/28 - 3
7-55241707-GGC-CAA c.2155_2157delinsCAA p.G719Q Missense 18/28 - 1
7-55241707-GGC-ATG c.2155_2157delinsATG p.G719M Missense 18/28 - 1
7-55241705-TGG-T c.2155_2156del p.G719Lfs*9 Frameshift 18/28 - 1
7-55241708-G-C c.2156G>C p.G719A Missense 18/28 - 579
7-55241708-G-A c.2156G>A p.G719D Missense 18/28 - 66
7-55241708-G-T c.2156G>T p.G719V Missense 18/28 - 7
7-55241705-TG-T c.2156del p.G719Afs*29 Frameshift 18/28 - 1
7-55241709-C-T c.2157C>T p.G719= Synonymous 18/28 - 1
7-55241709-C-G c.2157C>G p.G719= Synonymous 18/28 - 1
7-55241709-C-A c.2157C>A p.G719= Synonymous 18/28 - 1
7-55241708-G-GCCACGT c.2157_2158insCACGTC p.G719_S720insHV InFrameInsertion 18/28 - 1
7-55241710-TCC-GCATTT c.2158_2160delinsGCATTT p.S720delinsAF MultiAAMissense 18/28 - 1
7-55241710-T-C c.2158T>C p.S720P Missense 18/28 - 12
7-55241710-T-G c.2158T>G p.S720A Missense 18/28 - 1
7-55241710-T-A c.2158T>A p.S720T Missense 18/28 - 2
7-55241710-TC-AA c.2158_2159delinsAA p.S720N Missense 18/28 - 1
7-55241711-C-G c.2159C>G p.S720C Missense 18/28 - 4
7-55241711-C-A c.2159C>A p.S720Y Missense 18/28 - 2
7-55241711-C-T c.2159C>T p.S720F Missense 18/28 - 22
7-55241713-G-A c.2161G>A p.G721S Missense 18/28 - 8
7-55241713-GGT-TGG c.2161_2163delinsTGG p.G721W Missense 18/28 - 1
7-55241711-C-CCGTGGCCAG c.2161_2162insTGGCCAGCG p.S720_G721insVAS InFrameInsertion 18/28 - 1
7-55241713-G-T c.2161G>T p.G721C Missense 18/28 - 1
7-55241713-G-C c.2161G>C p.G721R Missense 18/28 - 1
7-55241714-G-A c.2162G>A p.G721D Missense 18/28 - 3
7-55241714-G-T c.2162G>T p.G721V Missense 18/28 - 2
7-55241714-G-C c.2162G>C p.G721A Missense 18/28 - 8
7-55241716-G-A c.2164G>A p.A722T Missense 18/28 - 2
7-55241717-C-T c.2165C>T p.A722V Missense 18/28 - 5
7-55241717-C-G c.2165C>G p.A722G Missense 18/28 - 1
7-55241717-C-CCAGCGTGGA c.2165_2166insCAGCGTGGA p.A722_F723insSVE InFrameInsertion 18/28 - 1
7-55241718-G-T c.2166G>T p.A722= Synonymous 18/28 - 1
7-55241718-G-C c.2166G>C p.A722= Synonymous 18/28 - 1
7-55241718-G-A c.2166G>A p.A722= Synonymous 18/28 - 1
7-55241719-TT-GC c.2167_2168delinsGC p.F723A Missense 18/28 - 1
7-55241719-T-C c.2167T>C p.F723L Missense 18/28 - 4
7-55241721-C-A c.2169C>A p.F723L Missense 18/28 - 3
7-55241721-C-G c.2169C>G p.F723L Missense 18/28 - 3
7-55241719-T-A c.2167T>A p.F723I Missense 18/28 - 2
7-55241720-T-G c.2168T>G p.F723C Missense 18/28 - 1
7-55241721-C-T c.2169C>T p.F723= Synonymous 18/28 - 1
7-55241722-G-A c.2170G>A p.G724S Missense 18/28 - 106
7-55241723-G-C c.2171G>C p.G724A Missense 18/28 - 2
7-55241723-G-T c.2171G>T p.G724V Missense 18/28 - 2
7-55241723-G-A c.2171G>A p.G724D Missense 18/28 - 2
7-55241723-G-GGGACAACCC c.2171_2172insGGACAACCC p.G724_T725insDNP InFrameInsertion 18/28 - 1
7-55241723-G-GCGACAACCC c.2172_2173insGACAACCCC p.G724_T725insDNP InFrameInsertion 18/28 - 1
7-55241725-A-C c.2173A>C p.T725P Missense 18/28 - 1
7-55241725-AC-TA c.2173_2174delinsTA p.T725* Nonsense 18/28 - 1
7-55241725-A-G c.2173A>G p.T725A Missense 18/28 - 2
7-55241726-C-T c.2174C>T p.T725M Missense 18/28 - 19
7-55241726-CG-TC c.2174_2175delinsTC p.T725I Missense 18/28 - 1
7-55241726-C-G c.2174C>G p.T725R Missense 18/28 - 2
7-55241727-G-A c.2175G>A p.T725= Synonymous 18/28 - 3
7-55241727-G-T c.2175G>T p.T725= Synonymous 18/28 - 4
7-55241727-G-C c.2175G>C p.T725= Synonymous 18/28 - 5
7-55241728-G-A c.2176G>A p.V726M Missense 18/28 - 5
7-55241728-G-T c.2176G>T p.V726L Missense 18/28 - 2
7-55241728-GT-AC c.2176_2177inv p.V726T Missense 18/28 - 1
7-55241728-GTG-TTT c.2176_2178delinsTTT p.V726F Missense 18/28 - 1
7-55241728-GT-TA c.2176_2177delinsTA p.V726* Nonsense 18/28 - 1
7-55241729-T-C c.2177T>C p.V726A Missense 18/28 - 1
7-55241731-T-C c.2179T>C p.Y727H Missense 18/28 - 3
7-55241732-A-ACCACGT c.2180_2181insCCACGT p.Y727_K728insHV InFrameInsertion 18/28 - 1
7-55241732-A-G c.2180A>G p.Y727C Missense 18/28 - 3
7-55241734-A-G c.2182A>G p.K728E Missense 18/28 - 1
7-55241735-A-G c.2183A>G p.K728R Missense 18/28 - 2
7-55241735-A-T c.2183A>T p.K728M Missense 18/28 - 1
7-55241735-A-C c.2183A>C p.K728T Missense 18/28 - 1
7-55241738-T-C c.2184+2T>C - IntronicSNV - 18/27 1
7-55241740-A-G c.2184+4A>G - IntronicSNV - 18/27 1
7-55241751-A-G c.2184+15A>G - IntronicSNV - 18/27 1
7-55241755-G-A c.2184+19G>A - IntronicSNV - 18/27 10
7-55241763-G-A c.2184+27G>A - IntronicSNV - 18/27 1
7-55241783-A-G c.2184+47A>G - IntronicSNV - 18/27 1
7-55241798-GC-G c.2184+65del - IntronicDeletion - 18/27 1
7-55241836-C-T c.2184+100C>T - IntronicSNV - 18/27 2
7-55242415-G-A c.2185G>A p.G729R Missense 19/28 - 6
7-55242415-G-C c.2185G>C p.G729R Missense 19/28 - 6
7-55242416-G-C c.2186G>C p.G729A Missense 19/28 - 2
7-55242416-G-A c.2186G>A p.G729E Missense 19/28 - 3
7-55242418-C-T c.2188C>T p.L730F Missense 19/28 - 5
7-55242418-C-G c.2188C>G p.L730V Missense 19/28 - 1
7-55242418-C-A c.2188C>A p.L730I Missense 19/28 - 1
7-55242419-T-G c.2189T>G p.L730R Missense 19/28 - 2
7-55242419-T-C c.2189T>C p.L730P Missense 19/28 - 3
7-55242421-T-C c.2191T>C p.W731R Missense 19/28 - 5
7-55242421-T-A c.2191T>A p.W731R Missense 19/28 - 4
7-55242422-G-A c.2192G>A p.W731* Nonsense 19/28 - 6
7-55242423-G-A c.2193G>A p.W731* Nonsense 19/28 - 2
7-55242422-G-T c.2192G>T p.W731L Missense 19/28 - 3
7-55242424-A-G c.2194A>G p.I732V Missense 19/28 - 1
7-55242424-A-T c.2194A>T p.I732F Missense 19/28 - 1
7-55242425-T-C c.2195T>C p.I732T Missense 19/28 - 1
7-55242427-C-T c.2197C>T p.P733S Missense 19/28 - 8
7-55242427-C-A c.2197C>A p.P733T Missense 19/28 - 4
7-55242428-C-T c.2198C>T p.P733L Missense 19/28 - 12
7-55242428-C-A c.2198C>A p.P733Q Missense 19/28 - 1
7-55242429-A-G c.2199A>G p.P733= Synonymous 19/28 - 1
7-55242430-G-A c.2200G>A p.E734K Missense 19/28 - 2
7-55242430-G-C c.2200G>C p.E734Q Missense 19/28 - 2
7-55242430-GA-AG c.2200_2201delinsAG p.E734R Missense 19/28 - 1
7-55242431-A-C c.2201A>C p.E734A Missense 19/28 - 1
7-55242432-A-C c.2202A>C p.E734D Missense 19/28 - 1
7-55242432-A-T c.2202A>T p.E734D Missense 19/28 - 1
7-55242432-A-G c.2202A>G p.E734= Synonymous 19/28 - 1
7-55242433-G-A c.2203G>A p.G735S Missense 19/28 - 15
7-55242433-G-C c.2203G>C p.G735R Missense 19/28 - 1
7-55242434-G-A c.2204G>A p.G735D Missense 19/28 - 2
7-55242435-T-C c.2205T>C p.G735= Synonymous 19/28 - 1
7-55242436-G-A c.2206G>A p.E736K Missense 19/28 - 3
7-55242437-A-T c.2207A>T p.E736V Missense 19/28 - 1
7-55242439-AAAGTTAAAAT-CCACACTGGGA c.2209_2219delinsCCACACTGGGA p.K737_I740delinsPHWD MultiAAMissense 19/28 - 1
7-55242439-A-G c.2209A>G p.K737E Missense 19/28 - 1
7-55242440-A-G c.2210A>G p.K737R Missense 19/28 - 3
7-55242442-G-T c.2212G>T p.V738F Missense 19/28 - 2
7-55242442-G-C c.2212G>C p.V738L Missense 19/28 - 1
7-55242443-T-C c.2213T>C p.V738A Missense 19/28 - 1
7-55242443-T-G c.2213T>G p.V738G Missense 19/28 - 5
7-55242443-T-A c.2213T>A p.V738D Missense 19/28 - 1
7-55242444-T-TAAAATTCCCGTCGCTATC c.2217_2234dup p.I740_K745dup inframe_insertion 19/28 - 1
7-55242444-T-TAAGATCCCTGTAGCAATC c.2216_2217insGATCCCTGTAGCAATCAA p.I740_K745dup InFrameInsertion 19/28 - 1
7-55242448-A-T c.2218A>T p.I740F Missense 19/28 - 1
7-55242449-T-C c.2219T>C p.I740T Missense 19/28 - 2
7-55242449-T-TCATCG c.2219_2220insCATCG p.P741Ifs*9 Frameshift 19/28 - 1
7-55242451-C-T c.2221C>T p.P741S Missense 19/28 - 6
7-55242451-C-A c.2221C>A p.P741T Missense 19/28 - 2
7-55242452-C-T c.2222C>T p.P741L Missense 19/28 - 4
7-55242452-C-G c.2222C>G p.P741R Missense 19/28 - 1
7-55242452-C-A c.2222C>A p.P741H Missense 19/28 - 2
7-55242454-G-C c.2224G>C p.V742L Missense 19/28 - 2
7-55242454-G-A c.2224G>A p.V742I Missense 19/28 - 15
7-55242454-GTC-ATG c.2224_2226delinsATG p.V742M Missense 19/28 - 1
7-55242454-G-T c.2224G>T p.V742F Missense 19/28 - 2
7-55242454-GTC-TAA c.2224_2226delinsTAA p.V742* Nonsense 19/28 - 1
7-55242455-T-C c.2225T>C p.V742A Missense 19/28 - 11
7-55242453-CGTCGCTATCAAG-C c.2225_2236del p.V742_K745del InFrameDeletion 19/28 - 1
7-55242456-C-A c.2226C>A p.V742= Synonymous 19/28 - 2
7-55242456-C-G c.2226C>G p.V742= Synonymous 19/28 - 2
7-55242456-C-T c.2226C>T p.V742= Synonymous 19/28 - 2
7-55242457-G-A c.2227G>A p.A743T Missense 19/28 - 8
7-55242457-G-T c.2227G>T p.A743S Missense 19/28 - 3
7-55242458-C-A c.2228C>A p.A743D Missense 19/28 - 1
7-55242458-C-T c.2228C>T p.A743V Missense 19/28 - 4
7-55242460-A-G c.2230A>G p.I744V Missense 19/28 - 5
7-55242460-A-T c.2230A>T p.I744F Missense 19/28 - 1
7-55242460-ATCAAGGAATTAAGAGAAGC-GTCAA c.2230_2249delinsGTCAA p.I744_A750delinsVK MultiAAMissense 19/28 - 1
7-55242461-T-C c.2231T>C p.I744T Missense 19/28 - 1
7-55242462-C-G c.2232C>G p.I744M Missense 19/28 - 12
7-55242459-TATCAAGGA-T c.2232_2239del p.E746Rfs*14 Frameshift 19/28 - 2
7-55242462-C-A c.2232C>A p.I744= Synonymous 19/28 - 1
7-55242462-C-T c.2232C>T p.I744= Synonymous 19/28 - 1
7-55242463-AA-GC c.2233_2234delinsGC p.K745A Missense 19/28 - 5
7-55242463-CAAG-C c.2233_2235del p.K745del InFrameDeletion 19/28 - 1
7-55242464-AGGAA-TCCCTGTAGCAATCAAG c.2234_2238delinsTCCCTGTAGCAATCAAG p.K745_E746delinsIPVAIK MultiAAMissense 19/28 - 1
7-55242463-CAAGGAATTAAGAGAA-C c.2233_2247del p.K745_E749del InFrameDeletion 19/28 - 6
7-55242463-A-G c.2233A>G p.K745E Missense 19/28 - 1
7-55242462-CA-C c.2234del p.K745Rfs*3 Frameshift 19/28 - 2
7-55242462-CAAGGAATTAAGAGAAGCA-C c.2234_2251del p.K745_A750del InFrameDeletion 19/28 - 5
7-55242464-A-G c.2234A>G p.K745R Missense 19/28 - 11
7-55242464-A-T c.2234A>T p.K745M Missense 19/28 - 4
7-55242464-AGGAATTAAGAGAAGCAAC-T c.2234_2252delinsT p.K745_T751delinsI MultiAAMissense 19/28 - 1
7-55242464-AAGGAATTAAGAGAAG-A c.2234_2248del p.K745_A750delinsT MultiAAMissense 19/28 - 3
7-55242465-AGGAATTAAGAGAAGC-A c.2235_2249del p.E746_A750del InFrameDeletion 19/28 - 133
7-55242462-C-CAAGATCCCT c.2235_2236insATCCCTAAG p.K745_E746insIPK InFrameInsertion 19/28 - 1
7-55242463-AAGG-A c.2235_2237del p.E746del InFrameDeletion 19/28 - 2
7-55242465-GGAATTAAGAGAAGCAA-AATTC c.2235_2251delinsAATTC p.E746_T751delinsIP MultiAAMissense 19/28 - 2
7-55242459-T-TATCAAGATCCCTGTAGCA c.2235_2236insATCCCTGTAGCAATCAAG p.I740_K745dup InFrameInsertion 19/28 - 8
7-55242465-AGG-A c.2235_2236del p.E746Ifs*16 Frameshift 19/28 - 2
7-55242465-G-GT c.2235_2236insT p.E746* Nonsense 19/28 - 1
7-55242465-GGAATTAAGAGAAGCAACATC-AAT c.2235_2255delinsAAT p.E746_S752delinsI MultiAAMissense 19/28 - 1
7-55242463-AAGGAATTAAGAG-A c.2235_2246del p.E746_E749del InFrameDeletion 19/28 - 6
7-55242465-GGAATTAAGAGAAG-TT c.2235_2248delinsTT p.K745_A750delinsNS MultiAAMissense 19/28 - 1
7-55242465-AGGAATTAAGAGAAGCAAC-A c.2235_2252del p.E746_T751del InFrameDeletion 19/28 - 6
7-55242465-G-A c.2235G>A p.K745= Synonymous 19/28 - 1
7-55242461-TCAAGGAATTAAGAGAAG-T c.2235_2251del p.K745Nfs*12 Frameshift 19/28 - 2
7-55242465-GGAATTAAGAGAAGCAAC-TT c.2235_2252delinsTT p.K745Nfs*16 Frameshift 19/28 - 1
7-55242459-T-TATCAAGACACCTGTAGCA c.2235_2236insACACCTGTAGCAATCAAG p.K745_E746insTPVAIK InFrameInsertion 19/28 - 1
7-55242465-GGAATTAAGAGAAGCAA-AG c.2235_2251delinsAG p.E746_T751delinsA MultiAAMissense 19/28 - 1
7-55242465-GGAATTAAGAGAAGCAAC-AAT c.2235_2252delinsAAT p.E746_T751delinsI MultiAAMissense 19/28 - 1
7-55242466-G-A c.2236G>A p.E746K Missense 19/28 - 13
7-55242466-GGAATTAAGAGAAGCA-G c.2236_2250del p.E746_A750del InFrameDeletion 19/28 - 199
7-55242466-GGAATTAAGAGAAGCAACATCT-G c.2236_2256del p.E746_S752del InFrameDeletion 19/28 - 10
7-55242466-G-T c.2236G>T p.E746* Nonsense 19/28 - 1
7-55242466-GGAA-G c.2236_2238del p.E746del InFrameDeletion 19/28 - 6
7-55242464-AG-A c.2236del p.E746Nfs*2 Frameshift 19/28 - 3
7-55242462-CAAGGAATTAAGAG-C c.2236_2248del p.E746Qfs*16 Frameshift 19/28 - 3
7-55242466-GGAATTAAGAGAAGCAACA-G c.2236_2253del p.E746_T751del InFrameDeletion 19/28 - 9
7-55242466-G-C c.2236G>C p.E746Q Missense 19/28 - 2
7-55242466-GAATTAAGAGAAG-AGCC c.2236_2248delinsAGCC p.E746_A750delinsSP MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATCTC-CTCT c.2236_2257delinsCTCT p.E746_P753delinsLS MultiAAMissense 19/28 - 2
7-55242466-GAATTAAGAGAAG-ATTC c.2236_2248delinsATTC p.E746_A750delinsIP MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATCTC-ATCT c.2236_2257delinsATCT p.E746_P753delinsIS MultiAAMissense 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAAC-G c.2236_2252del p.E746Ifs*11 Frameshift 19/28 - 2
7-55242466-GAATTAAGAGAAGCAAC-CT c.2236_2252delinsCT p.E746_T751delinsL MultiAAMissense 19/28 - 2
7-55242466-GGAATTAAGAGAAGC-G c.2236_2249del p.E746Nfs*12 Frameshift 19/28 - 4
7-55242466-GGA-G c.2236_2237del p.E746Ifs*16 Frameshift 19/28 - 2
7-55242466-GAATTAAGAGAAG-CAAC c.2236_2248delinsCAAC p.E746_A750delinsQP MultiAAMissense 19/28 - 3
7-55242466-GAATT-ATTCC c.2236_2240delinsATTCC p.E746_L747delinsIP MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATCTCCGA-ATCTCCG c.2236_2260delinsATCTCCG p.E746_K754delinsISE MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACA-TTG c.2236_2253delinsTTG p.E746_T751delinsL MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAG-C c.2236_2248delinsC p.E746_A750delinsP MultiAAMissense 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAACAT-G c.2236_2254del p.E746Lfs*14 Frameshift 19/28 - 1
7-55242466-GAATTAAGAGAAGCAAC-AT c.2236_2252delinsAT p.E746_T751delinsI MultiAAMissense 19/28 - 1
7-55242464-AGGAATTAAGAGAAGCAACATCTCC-A c.2236_2259del p.E746_P753del InFrameDeletion 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAACATC-G c.2236_2255del p.E746Sfs*10 Frameshift 19/28 - 1
7-55242466-GAATTAAGAGAAGCAAC-CA c.2236_2252delinsCA p.E746_T751delinsQ MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATC-AT c.2236_2255delinsAT p.E746_S752delinsI MultiAAMissense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATCT-ATC c.2236_2256delinsATC p.E746_S752delinsI MultiAAMissense 19/28 - 1
7-55242467-A-C c.2237A>C p.E746A Missense 19/28 - 4
7-55242467-GAATTAAGAGAAGCAACATC-G c.2237_2255del p.E746Vfs*14 Frameshift 19/28 - 3
7-55242467-GAATTAAGAGAAGCAACAT-G c.2237_2254del p.E746_S752delinsA MultiAAMissense 19/28 - 17
7-55242467-AATTAAGAGAAGCAACATC-T c.2237_2255delinsT p.E746_S752delinsV MultiAAMissense 19/28 - 10
7-55242467-AATTAAGAGAAGCAA-T c.2237_2251delinsT p.E746Vfs*12 Frameshift 19/28 - 1
7-55242467-GAATTAAGAGAAGCAA-G c.2237_2251del p.E746_T751delinsA MultiAAMissense 19/28 - 27
7-55242467-AATTAAGAGAAGCAAC-T c.2237_2252delinsT p.E746_T751delinsV MultiAAMissense 19/28 - 2
7-55242467-AATTAAGAGAAGCAACATCTC-TCT c.2237_2257delinsTCT p.E746_P753delinsVS MultiAAMissense 19/28 - 2
7-55242467-AATTAAGAGAAGCAACATCT-TC c.2237_2256delinsTC p.E746_S752delinsV MultiAAMissense 19/28 - 2
7-55242467-A-T c.2237A>T p.E746V Missense 19/28 - 17
7-55242465-GGAATTAAGAGAA-G c.2237_2248del p.E746_E749del InFrameDeletion 19/28 - 3
7-55242467-GAATTAAGAGAAGCAACA-G c.2237_2253del p.E746Vfs*11 Frameshift 19/28 - 4
7-55242467-A-G c.2237A>G p.E746G Missense 19/28 - 7
7-55242467-GAA-G c.2237_2238del p.E746Vfs*16 Frameshift 19/28 - 4
7-55242467-AATTAAGAGAAGCAACA-TTGCT c.2237_2253delinsTTGCT p.E746_T751delinsVA MultiAAMissense 19/28 - 1
7-55242467-GAATTAAGAGAAGCAACATCTC-G c.2237_2257del p.E746_P753delinsA MultiAAMissense 19/28 - 2
7-55242466-G-GAACA c.2238_2239insCAAA p.L747Qfs*17 Frameshift 19/28 - 1
7-55242468-A-C c.2238A>C p.E746D Missense 19/28 - 1
7-55242468-A-T c.2238A>T p.E746D Missense 19/28 - 1
7-55242466-GAATTAAGAGA-G c.2238_2247del p.L747Qfs*16 Frameshift 19/28 - 3
7-55242468-ATTAAGAGAAGCAACATCTCC-GCAACA c.2238_2258delinsGCAACA p.L747_P753delinsQQ MultiAAMissense 19/28 - 1
7-55242468-A-AAG c.2238_2239insAG p.L747Sfs*2 Frameshift 19/28 - 1
7-55242468-AATTAAGAGAAGCAACATC-A c.2238_2255del p.E746_S752delinsD MultiAAMissense 19/28 - 7
7-55242468-ATTAAGAGAAGCAAC-GCA c.2238_2252delinsGCA p.L747_T751delinsQ MultiAAMissense 19/28 - 1
7-55242465-GGAATTAA-G c.2238_2244del p.L747Kfs*17 Frameshift 19/28 - 1
7-55242468-AATTAAGAGAAGCAACATCTCC-A c.2238_2258del p.L747_P753del InFrameDeletion 19/28 - 2
7-55242468-AATTAAGAGAAGCAACATCT-A c.2238_2256del p.E746Dfs*14 Frameshift 19/28 - 1
7-55242468-ATTAAGAGAAG-GC c.2238_2248delinsGC p.L747_A750delinsP MultiAAMissense 19/28 - 1
7-55242468-A-AATC c.2238_2239insATC p.E746_L747insI InFrameInsertion 19/28 - 1
7-55242469-TT-CC c.2239_2240delinsCC p.L747P Missense 19/28 - 77
7-55242465-GGAATTAAGA-G c.2239_2247del p.L747_E749del InFrameDeletion 19/28 - 41
7-55242469-TT-AG c.2239_2240delinsAG p.L747R Missense 19/28 - 1
7-55242466-GAATTAAGAGAAGCAACATCTCCGA-G c.2239_2262del p.L747_K754del InFrameDeletion 19/28 - 3
7-55242469-TTAAGAGAAG-C c.2239_2248delinsC p.L747_A750delinsP MultiAAMissense 19/28 - 13
7-55242469-T-C c.2239T>C p.L747= Synonymous 19/28 - 3
7-55242471-A-G c.2241A>G p.L747= Synonymous 19/28 - 2
7-55242467-AATTAAGAGAAGC-A c.2239_2250del p.L747_A750del InFrameDeletion 19/28 - 7
7-55242469-ATTAAGAGAAGCAACATCT-A c.2239_2256del p.L747_S752del InFrameDeletion 19/28 - 45
7-55242469-ATTAAGAGAAGCAACATCTCCG-A c.2239_2259del p.L747_P753del InFrameDeletion 19/28 - 5
7-55242469-ATTAAGAGAAG-A c.2239_2248del p.L747Qfs*16 Frameshift 19/28 - 8
7-55242469-TTA-ATCCCT c.2239_2241delinsATCCCT p.L747delinsIP MultiAAMissense 19/28 - 1
7-55242469-TTAAGAGAAGCAACATCTCCGAAAGC-GGAG c.2239_2264delinsGGAG p.L747Gfs*12 Frameshift 19/28 - 1
7-55242469-TTAAGAGAAGCAA-C c.2239_2251delinsC p.L747_T751delinsP MultiAAMissense 19/28 - 6
7-55242469-TTAAGAGAAGCAACA-CCAACG c.2239_2253delinsCCAACG p.L747_A750delinsP MultiAAMissense 19/28 - 1
7-55242469-TTA-GTACCT c.2239_2241delinsGTACCT p.L747delinsVP MultiAAMissense 19/28 - 1
7-55242469-TTAAGAGAAGCAACATCTCCGA-GC c.2239_2260delinsGC p.L747Afs*9 Frameshift 19/28 - 1
7-55242469-TTAAG-CC c.2239_2243delinsCC p.L747_R748delinsP MultiAAMissense 19/28 - 1
7-55242469-T-G c.2239T>G p.L747V Missense 19/28 - 8
7-55242469-TT-GC c.2239_2240delinsGC p.L747A Missense 19/28 - 1
7-55242469-ATTAAGAGAAGCAACATCTCCGAAAGC-A c.2239_2264del p.L747Qfs*7 Frameshift 19/28 - 2
7-55242469-TTAAGAGAAGCAACATCTCC-CA c.2239_2258delinsCA p.L747_P753delinsQ MultiAAMissense 19/28 - 2
7-55242467-AATT-A c.2239_2241del p.L747del InFrameDeletion 19/28 - 2
7-55242466-GAATTAAGAGAAGC-G c.2239_2251del p.L747Hfs*15 Frameshift 19/28 - 1
7-55242469-TTAAGAGAAGCAAC-CA c.2239_2252delinsCA p.L747_T751delinsQ MultiAAMissense 19/28 - 1
7-55242470-TTAAGAGAAGCAACATCTC-T c.2240_2257del p.L747_P753delinsS MultiAAMissense 19/28 - 80
7-55242467-AATTAAGAGAAGCAAC-A c.2240_2254del p.L747_T751del InFrameDeletion 19/28 - 78
7-55242470-T-C c.2240T>C p.L747S Missense 19/28 - 189
7-55242470-TTAAGAGAAGCAA-T c.2240_2251del p.L747_T751delinsS MultiAAMissense 19/28 - 10
7-55242470-TA-GT c.2240_2241delinsGT p.L747C Missense 19/28 - 1
7-55242470-T-A c.2240T>A p.L747* Nonsense 19/28 - 4
7-55242470-T-G c.2240T>G p.L747* Nonsense 19/28 - 4
7-55242470-TTAAGAGAAG-T c.2240_2248del p.L747_A750delinsS MultiAAMissense 19/28 - 4
7-55242470-TAAGAGAAGCAACATCTCCGAAAGC-CGAAAGG c.2240_2264delinsCGAAAGG p.L747_A755delinsSKG MultiAAMissense 19/28 - 1
7-55242470-TTAAGAGAAGCAAC-T c.2240_2252del p.L747Yfs*15 Frameshift 19/28 - 1
7-55242471-TAAGAGAAG-T c.2241_2248del p.L747Ffs*13 Frameshift 19/28 - 1
7-55242469-TTAAGAGAAGCAACATC-T c.2241_2256del p.L747Ffs*14 Frameshift 19/28 - 1
7-55242471-A-T c.2241A>T p.L747F Missense 19/28 - 4
7-55242471-A-C c.2241A>C p.L747F Missense 19/28 - 4
7-55242471-TAAGAGAAGCAACA-T c.2241_2253del p.L747Ffs*15 Frameshift 19/28 - 1
7-55242471-AAGA-CCCG c.2241_2244delinsCCCG p.L747_R748delinsFP MultiAAMissense 19/28 - 1
7-55242470-TAAGAGAAGCAAC-T c.2242_2253del p.R748_T751del InFrameDeletion 19/28 - 3
7-55242470-TAAG-T c.2242_2244del p.R748del InFrameDeletion 19/28 - 7
7-55242472-AG-GA c.2242_2243delinsGA p.R748E Missense 19/28 - 1
7-55242472-A-G c.2242A>G p.R748G Missense 19/28 - 2
7-55242470-TAAGAGAAGCA-T c.2242_2251del p.R748Hfs*15 Frameshift 19/28 - 1
7-55242472-AGA-TGG c.2242_2244delinsTGG p.R748W Missense 19/28 - 2
7-55242473-G-A c.2243G>A p.R748K Missense 19/28 - 5
7-55242473-G-T c.2243G>T p.R748I Missense 19/28 - 1
7-55242470-TAAGAGAAGC-T c.2243_2251del p.R748_A750del InFrameDeletion 19/28 - 1
7-55242473-G-C c.2243G>C p.R748T Missense 19/28 - 1
7-55242474-A-G c.2244A>G p.R748= Synonymous 19/28 - 1
7-55242472-A-C c.2242A>C p.R748= Synonymous 19/28 - 1
7-55242475-G-T c.2245G>T p.E749* Nonsense 19/28 - 2
7-55242473-GAGAAGCA-G c.2245_2251del p.E749Hfs*15 Frameshift 19/28 - 2
7-55242475-GA-AT c.2245_2246delinsAT p.E749I Missense 19/28 - 1
7-55242475-G-A c.2245G>A p.E749K Missense 19/28 - 5
7-55242475-GAA-ATGAAGAAG c.2245_2247delinsATGAAGAAG p.E749delinsMKK MultiAAMissense 19/28 - 1
7-55242475-G-C c.2245G>C p.E749Q Missense 19/28 - 5
7-55242473-GAGA-G c.2246_2248del p.E749del InFrameDeletion 19/28 - 69
7-55242476-A-G c.2246A>G p.E749G Missense 19/28 - 3
7-55242476-A-T c.2246A>T p.E749V Missense 19/28 - 1
7-55242477-AAGCAACATC-A c.2247_2255del p.E749_S752delinsD MultiAAMissense 19/28 - 1
7-55242477-A-G c.2247A>G p.E749= Synonymous 19/28 - 1
7-55242478-G-C c.2248G>C p.A750P Missense 19/28 - 115
7-55242476-AAGC-A c.2248_2250del p.A750del InFrameDeletion 19/28 - 381
7-55242474-AGAAGCAACATCTCCGAAAGCCAACAAG-A c.2248_2274del p.A750_E758del InFrameDeletion 19/28 - 1
7-55242478-GCA-ATCCCT c.2248_2250delinsATCCCT p.A750delinsIP MultiAAMissense 19/28 - 3
7-55242479-CA-AGCCT c.2249_2250delinsAGCCT p.A750delinsEP MultiAAMissense 19/28 - 1
7-55242478-GC-AA c.2248_2249delinsAA p.A750K Missense 19/28 - 1
7-55242478-GCA-AACAGGCAAGGT c.2248_2250delinsAACAGGCAAGGT p.A750delinsNRQG MultiAAMissense 19/28 - 1
7-55242478-GCA-CAACCT c.2248_2250delinsCAACCT p.A750delinsQP MultiAAMissense 19/28 - 2
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAAT-A c.2248_2276del p.A750Pfs*3 Frameshift 19/28 - 1
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAATC-A c.2248_2277del p.A750_I759del InFrameDeletion 19/28 - 1
7-55242478-G-A c.2248G>A p.A750T Missense 19/28 - 1
7-55242479-CA-TACCT c.2249_2250delinsTACCT p.A750delinsVP MultiAAMissense 19/28 - 1
7-55242479-C-A c.2249C>A p.A750E Missense 19/28 - 5
7-55242478-G-GC c.2249dup p.T751Nfs*12 Frameshift 19/28 - 1
7-55242479-C-T c.2249C>T p.A750V Missense 19/28 - 1
7-55242480-CAA-C c.2250_2251del p.T751Ifs*11 Frameshift 19/28 - 1
7-55242480-A-G c.2250A>G p.A750= Synonymous 19/28 - 1
7-55242478-GCAA-G c.2251_2253del p.T751del InFrameDeletion 19/28 - 85
7-55242481-AACATCTCCGAAAGCCAACAAGGAAATC-A c.2251_2277del p.T751_I759del InFrameDeletion 19/28 - 6
7-55242481-AC-GG c.2251_2252delinsGG p.T751G Missense 19/28 - 1
7-55242481-ACA-GTACCT c.2251_2253delinsGTACCT p.T751delinsVP MultiAAMissense 19/28 - 1
7-55242481-A-GCAG c.2251delinsGCAG p.T751delinsAA MultiAAMissense 19/28 - 1
7-55242481-ACATCTCCGAAAGCCAACAAGGAAATC-TCT c.2251_2277delinsTCT p.T751_I759delinsS MultiAAMissense 19/28 - 1
7-55242481-A-T c.2251A>T p.T751S Missense 19/28 - 3
7-55242481-A-C c.2251A>C p.T751P Missense 19/28 - 11
7-55242481-A-GTAG c.2251delinsGTAG p.T751delinsVA MultiAAMissense 19/28 - 2
7-55242481-ACA-GCAATC c.2251_2253delinsGCAATC p.T751delinsAI MultiAAMissense 19/28 - 1
7-55242481-A-G c.2251A>G p.T751A Missense 19/28 - 11
7-55242482-CA-TCCCT c.2252_2253delinsTCCCT p.T751delinsIP MultiAAMissense 19/28 - 2
7-55242479-CAACATCTCCGAA-C c.2251_2262del p.T751_K754del InFrameDeletion 19/28 - 1
7-55242482-C-T c.2252C>T p.T751I Missense 19/28 - 23
7-55242479-CAACATCTCCGAAAGCCAACAAGGA-C c.2252_2275del p.T751_E758del InFrameDeletion 19/28 - 5
7-55242482-CA-AC c.2252_2253delinsAC p.T751N Missense 19/28 - 1
7-55242482-C-G c.2252C>G p.T751R Missense 19/28 - 1
7-55242479-CAACATCTCCGAAAGCCAACAAGG-C c.2252_2274del p.T751Nfs*4 Frameshift 19/28 - 1
7-55242482-AC-A c.2252del p.T751Nfs*15 Frameshift 19/28 - 1
7-55242482-CATCTCCGAAAGCCAACAAGGAAAT-A c.2252_2276delinsA p.T751_I759delinsN MultiAAMissense 19/28 - 3
7-55242483-CATCTCCGAAAGCCAACAAGGAAAT-C c.2253_2276del p.S752_I759del InFrameDeletion 19/28 - 13
7-55242481-ACATCTCCGAAAGCCAACAAGGAAAT-A c.2253_2277del p.P753Mfs*5 Frameshift 19/28 - 2
7-55242483-A-G c.2253A>G p.T751= Synonymous 19/28 - 1
7-55242483-A-T c.2253A>T p.T751= Synonymous 19/28 - 1
7-55242483-A-C c.2253A>C p.T751= Synonymous 19/28 - 1
7-55242483-CATCTCCGAAAGCCAACAAGGAAA-C c.2253_2275del p.S752Pfs*3 Frameshift 19/28 - 1
7-55242481-ACATCT-A c.2253_2257del p.S752Efs*9 Frameshift 19/28 - 1
7-55242484-TC-AT c.2254_2255delinsAT p.S752I Missense 19/28 - 16
7-55242484-ATCT-A c.2254_2256del p.S752del InFrameDeletion 19/28 - 68
7-55242484-ATCTCCGAAAGCCAACAAGGAAATC-A c.2254_2277del p.S752_I759del InFrameDeletion 19/28 - 16
7-55242482-CATCTCCGA-C c.2254_2261del p.P753Qfs*7 Frameshift 19/28 - 2
7-55242484-ATCTCCG-A c.2254_2259del p.S752_P753del InFrameDeletion 19/28 - 1
7-55242484-TC-GT c.2254_2255delinsGT p.S752V Missense 19/28 - 4
7-55242484-TC-GA c.2254_2255inv p.S752D Missense 19/28 - 6
7-55242481-ACATCTCCGAAAGC-A c.2254_2266del p.S752Tfs*10 Frameshift 19/28 - 1
7-55242484-T-C c.2254T>C p.S752P Missense 19/28 - 3
7-55242484-TCT-ATCGTA c.2254_2256delinsATCGTA p.S752delinsIV MultiAAMissense 19/28 - 1
7-55242485-C-T c.2255C>T p.S752F Missense 19/28 - 10
7-55242485-C-A c.2255C>A p.S752Y Missense 19/28 - 4
7-55242485-TC-T c.2255del p.S752Ffs*14 Frameshift 19/28 - 1
7-55242485-C-G c.2255C>G p.S752C Missense 19/28 - 1
7-55242486-CT-C c.2256del p.P753Rfs*13 Frameshift 19/28 - 1
7-55242483-ATC-A c.2256_2257del p.P753Efs*9 Frameshift 19/28 - 1
7-55242487-TCCG-T c.2257_2259del p.P753del InFrameDeletion 19/28 - 17
7-55242487-C-T c.2257C>T p.P753S Missense 19/28 - 58
7-55242487-CCG-ATCAGC c.2257_2259delinsATCAGC p.P753delinsIS MultiAAMissense 19/28 - 2
7-55242487-CCG-GTAAGC c.2257_2259delinsGTAAGC p.P753delinsVS MultiAAMissense 19/28 - 2
7-55242487-CCG-AGCAACATCAGCGGT c.2257_2259delinsAGCAACATCAGCGGT p.P753delinsSNISG MultiAAMissense 19/28 - 1
7-55242487-CC-GCAAACAAGGA c.2257_2258delinsGCAAACAAGGA p.P753delinsANKE MultiAAMissense 19/28 - 1
7-55242487-C-A c.2257C>A p.P753T Missense 19/28 - 1
7-55242487-CCG-TTT c.2257_2259delinsTTT p.P753F Missense 19/28 - 1
7-55242487-CC-GA c.2257_2258delinsGA p.P753E Missense 19/28 - 1
7-55242486-TC-T c.2258del p.P753Rfs*13 Frameshift 19/28 - 4
7-55242488-C-T c.2258C>T p.P753L Missense 19/28 - 10
7-55242488-C-A c.2258C>A p.P753Q Missense 19/28 - 5
7-55242488-C-G c.2258C>G p.P753R Missense 19/28 - 1
7-55242489-G-A c.2259G>A p.P753= Synonymous 19/28 - 2
7-55242489-G-T c.2259G>T p.P753= Synonymous 19/28 - 1
7-55242489-G-C c.2259G>C p.P753= Synonymous 19/28 - 1
7-55242490-GAAA-G c.2260_2262del p.K754del InFrameDeletion 19/28 - 6
7-55242490-A-G c.2260A>G p.K754E Missense 19/28 - 20
7-55242490-GAAAGCCAACAAGGAAATC-G c.2260_2277del p.K754_I759del InFrameDeletion 19/28 - 2
7-55242490-AAA-GTAAGCAGG c.2260_2262delinsGTAAGCAGG p.K754delinsVSR MultiAAMissense 19/28 - 1
7-55242490-A-C c.2260A>C p.K754Q Missense 19/28 - 4
7-55242490-AAA-GCAACAAGCCCTGAG c.2260_2262delinsGCAACAAGCCCTGAG p.K754delinsATSPE MultiAAMissense 19/28 - 2
7-55242490-AAA-CAACCTAAC c.2260_2262delinsCAACCTAAC p.K754delinsQPN MultiAAMissense 19/28 - 1
7-55242490-A-T c.2260A>T p.K754* Nonsense 19/28 - 2
7-55242491-AA-GCAGG c.2261_2262delinsGCAGG p.K754delinsSR MultiAAMissense 19/28 - 1
7-55242491-A-G c.2261A>G p.K754R Missense 19/28 - 2
7-55242491-A-T c.2261A>T p.K754I Missense 19/28 - 3
7-55242491-A-C c.2261A>C p.K754T Missense 19/28 - 1
7-55242492-A-G c.2262A>G p.K754= Synonymous 19/28 - 3
7-55242492-A-C c.2262A>C p.K754N Missense 19/28 - 2
7-55242492-A-T c.2262A>T p.K754N Missense 19/28 - 2
7-55242493-GCC-AGCAAGGGT c.2263_2265delinsAGCAAGGGT p.A755delinsSKG MultiAAMissense 19/28 - 1
7-55242493-GC-AGCAAGGA c.2263_2264delinsAGCAAGGA p.A755delinsSKD MultiAAMissense 19/28 - 1
7-55242493-G-A c.2263G>A p.A755T Missense 19/28 - 2
7-55242494-C-G c.2264C>G p.A755G Missense 19/28 - 5
7-55242494-C-A c.2264C>A p.A755D Missense 19/28 - 8
7-55242494-C-T c.2264C>T p.A755V Missense 19/28 - 4
7-55242495-C-A c.2265C>A p.A755= Synonymous 19/28 - 1
7-55242495-C-G c.2265C>G p.A755= Synonymous 19/28 - 2
7-55242495-C-T c.2265C>T p.A755= Synonymous 19/28 - 1
7-55242496-A-C c.2266A>C p.N756H Missense 19/28 - 1
7-55242496-A-G c.2266A>G p.N756D Missense 19/28 - 2
7-55242496-A-T c.2266A>T p.N756Y Missense 19/28 - 1
7-55242497-A-G c.2267A>G p.N756S Missense 19/28 - 3
7-55242499-A-G c.2269A>G p.K757E Missense 19/28 - 4
7-55242499-AA-CT c.2269_2270delinsCT p.K757L Missense 19/28 - 1
7-55242499-CAAG-C c.2269_2271del p.K757del InFrameDeletion 19/28 - 3
7-55242500-A-G c.2270A>G p.K757R Missense 19/28 - 16
7-55242500-A-T c.2270A>T p.K757M Missense 19/28 - 5
7-55242500-A-C c.2270A>C p.K757T Missense 19/28 - 1
7-55242501-G-A c.2271G>A p.K757= Synonymous 19/28 - 2
7-55242501-G-C c.2271G>C p.K757N Missense 19/28 - 4
7-55242501-G-T c.2271G>T p.K757N Missense 19/28 - 6
7-55242502-GGAA-G c.2272_2274del p.E758del InFrameDeletion 19/28 - 7
7-55242502-G-A c.2272G>A p.E758K Missense 19/28 - 3
7-55242503-A-G c.2273A>G p.E758G Missense 19/28 - 3
7-55242504-A-C c.2274A>C p.E758D Missense 19/28 - 4
7-55242504-A-T c.2274A>T p.E758D Missense 19/28 - 4
7-55242504-A-G c.2274A>G p.E758= Synonymous 19/28 - 2
7-55242505-AATC-A c.2275_2277del p.I759del InFrameDeletion 19/28 - 37
7-55242505-ATC-GCAACAGCA c.2275_2277delinsGCAACAGCA p.I759delinsATA MultiAAMissense 19/28 - 1
7-55242505-AT-CCTAG c.2275_2276delinsCCTAG p.I759delinsPS MultiAAMissense 19/28 - 1
7-55242505-AT-CCTAA c.2275_2276delinsCCTAA p.I759delinsPN MultiAAMissense 19/28 - 1
7-55242505-ATC-CCTACA c.2275_2277delinsCCTACA p.I759delinsPT MultiAAMissense 19/28 - 1
7-55242505-AT-GC c.2275_2276delinsGC p.I759A Missense 19/28 - 2
7-55242505-ATC-GGTGAGGGT c.2275_2277delinsGGTGAGGGT p.I759delinsGEG MultiAAMissense 19/28 - 1
7-55242505-A-G c.2275A>G p.I759V Missense 19/28 - 1
7-55242506-T-C c.2276T>C p.I759T Missense 19/28 - 1
7-55242506-T-A c.2276T>A p.I759N Missense 19/28 - 3
7-55242506-T-G c.2276T>G p.I759S Missense 19/28 - 4
7-55242507-C-G c.2277C>G p.I759M Missense 19/28 - 4
7-55242507-C-A c.2277C>A p.I759= Synonymous 19/28 - 1
7-55242507-C-T c.2277C>T p.I759= Synonymous 19/28 - 1
7-55242508-C-T c.2278C>T p.L760F Missense 19/28 - 2
7-55242505-ATCC-A c.2278_2280del p.L760del InFrameDeletion 19/28 - 2
7-55242508-C-A c.2278C>A p.L760I Missense 19/28 - 1
7-55242509-T-C c.2279T>C p.L760P Missense 19/28 - 2
7-55242509-T-G c.2279T>G p.L760R Missense 19/28 - 3
7-55242510-C-T c.2280C>T p.L760= Synonymous 19/28 - 1
7-55242510-C-G c.2280C>G p.L760= Synonymous 19/28 - 1
7-55242510-C-A c.2280C>A p.L760= Synonymous 19/28 - 1
7-55242511-G-A c.2281G>A p.D761N Missense 19/28 - 26
7-55242511-G-T c.2281G>T p.D761Y Missense 19/28 - 222
7-55242511-GAT-CAA c.2281_2283delinsCAA p.D761Q Missense 19/28 - 1
7-55242511-G-C c.2281G>C p.D761H Missense 19/28 - 2
7-55242512-A-G c.2282A>G p.D761G Missense 19/28 - 4
7-55242514-G-A c.2283+1G>A - IntronicSNV - 19/27 1
7-55242582-G-A c.2283+69G>A - IntronicSNV - 19/27 1
7-55242609-A-G c.2283+96A>G - IntronicSNV - 19/27 7
7-55242616-C-T c.2283+103C>T - IntronicSNV - 19/27 1
7-55243754-A-G c.2283+1241A>G - IntronicSNV - 19/27 3
7-55244030-T-C c.2283+1517T>C - IntronicSNV - 19/27 1
7-55244738-C-A c.2283+2225C>A - IntronicSNV - 19/27 1
7-55244738-C-T c.2283+2225C>T - IntronicSNV - 19/27 1
7-55245364-G-C c.2283+2851G>C - IntronicSNV - 19/27 6
7-55245507-A-G c.2283+2994A>G - IntronicSNV - 19/27 11
7-55245647-T-C c.2283+3134T>C - IntronicSNV - 19/27 5
7-55245717-G-A c.2283+3204G>A - IntronicSNV - 19/27 1
7-55245717-G-C c.2283+3204G>C - IntronicSNV - 19/27 1
7-55247334-C-G c.2284-1652C>G - IntronicSNV - 19/27 2
7-55247334-C-T c.2284-1652C>T - IntronicSNV - 19/27 2
7-55247442-A-T c.2284-1544A>T - IntronicSNV - 19/27 1
7-55247588-G-A c.2284-1398G>A - IntronicSNV - 19/27 3
7-55247610-C-T c.2284-1376C>T - IntronicSNV - 19/27 1
7-55248926-T-C c.2284-60T>C - IntronicSNV - 19/27 5
7-55248986-G-A c.2284G>A p.E762K Missense 20/28 - 4
7-55248986-G-T c.2284G>T p.E762* Nonsense 20/28 - 1
7-55248987-A-G c.2285A>G p.E762G Missense 20/28 - 3
7-55248988-A-G c.2286A>G p.E762= Synonymous 20/28 - 2
7-55248989-G-T c.2287G>T p.A763S Missense 20/28 - 1
7-55248989-G-A c.2287G>A p.A763T Missense 20/28 - 2
7-55248990-C-T c.2288C>T p.A763V Missense 20/28 - 2
7-55248990-C-A c.2288C>A p.A763D Missense 20/28 - 1
7-55248989-G-GCCCT c.2289_2290insCTCC p.Y764Lfs*134 Frameshift 20/28 - 1
7-55248991-C-T c.2289C>T p.A763= Synonymous 20/28 - 1
7-55248991-C-CTTTCAAGAGGCA c.2290_2291insTTCAAGAGGCAT p.A763_Y764insFQEA InFrameInsertion 20/28 - 10
7-55248992-T-C c.2290T>C p.Y764H Missense 20/28 - 1
7-55248991-C-CTTTCAACAAGCA c.2290_2291insTTCAACAAGCAT p.A763_Y764insFQQA InFrameInsertion 20/28 - 1
7-55248992-T-G c.2290T>G p.Y764D Missense 20/28 - 1
7-55248993-A-G c.2291A>G p.Y764C Missense 20/28 - 1
7-55248993-A-C c.2291A>C p.Y764S Missense 20/28 - 1
7-55248994-C-T c.2292C>T p.Y764= Synonymous 20/28 - 1
7-55248995-G-A c.2293G>A p.V765M Missense 20/28 - 15
7-55248995-G-C c.2293G>C p.V765L Missense 20/28 - 4
7-55248995-G-T c.2293G>T p.V765L Missense 20/28 - 3
7-55248996-T-C c.2294T>C p.V765A Missense 20/28 - 18
7-55248996-T-G c.2294T>G p.V765G Missense 20/28 - 5
7-55248998-AT-CA c.2296_2297delinsCA p.M766Q Missense 20/28 - 7
7-55248998-A-G c.2296A>G p.M766V Missense 20/28 - 2
7-55248998-ATG-TTT c.2296_2298delinsTTT p.M766F Missense 20/28 - 3
7-55248998-AT-GC c.2296_2297delinsGC p.M766A Missense 20/28 - 1
7-55248998-A-C c.2296A>C p.M766L Missense 20/28 - 1
7-55248998-A-T c.2296A>T p.M766L Missense 20/28 - 1
7-55248999-T-C c.2297T>C p.M766T Missense 20/28 - 6
7-55249000-G-C c.2298G>C p.M766I Missense 20/28 - 2
7-55249000-G-A c.2298G>A p.M766I Missense 20/28 - 2
7-55249000-G-T c.2298G>T p.M766I Missense 20/28 - 2
7-55249001-G-A c.2299G>A p.A767T Missense 20/28 - 4
7-55249001-G-T c.2299G>T p.A767S Missense 20/28 - 1
7-55249001-GC-AT c.2299_2300delinsAT p.A767I Missense 20/28 - 1
7-55249001-GGCC-G c.2299_2301del p.A767del InFrameDeletion 20/28 - 1
7-55249002-C-T c.2300C>T p.A767V Missense 20/28 - 10
7-55249000-G-GGCAAGCGTA c.2300_2301insAAGCGTAGC p.A767_V769dup InFrameInsertion 20/28 - 3
7-55248998-A-ATGGCCAGCG c.2300_2308dup p.A767_V769dup InFrameInsertion 20/28 - 1
7-55248998-ATGGCCAGCG-A c.2300_2308del p.A767_V769del InFrameDeletion 20/28 - 1
7-55249003-C-CGCATGGACA c.2301_2302insGCATGGACA p.A767_S768insAWT InFrameInsertion 20/28 - 1
7-55249003-C-A c.2301C>A p.A767= Synonymous 20/28 - 1
7-55249003-C-G c.2301C>G p.A767= Synonymous 20/28 - 1
7-55249003-C-T c.2301C>T p.A767= Synonymous 20/28 - 1
7-55249004-AGC-TGA c.2302_2304delinsTGA p.S768* Nonsense 20/28 - 4
7-55249004-AG-TT c.2302_2303delinsTT p.S768F Missense 20/28 - 1
7-55249004-AGC-CAA c.2302_2304delinsCAA p.S768Q Missense 20/28 - 1
7-55249004-AG-CT c.2302_2303inv p.S768L Missense 20/28 - 5
7-55249005-GCGTG-TCCTT c.2303_2307delinsTCCTT p.S768_V769delinsIL MultiAAMissense 20/28 - 2
7-55249004-AG-CC c.2302_2303delinsCC p.S768P Missense 20/28 - 1
7-55249004-A-T c.2302A>T p.S768C Missense 20/28 - 6
7-55249004-A-G c.2302A>G p.S768G Missense 20/28 - 3
7-55249004-AG-GA c.2302_2303delinsGA p.S768D Missense 20/28 - 1
7-55249004-AGC-GAG c.2302_2304delinsGAG p.S768E Missense 20/28 - 1
7-55249004-AG-GT c.2302_2303delinsGT p.S768V Missense 20/28 - 1
7-55249004-AG-GC c.2302_2303delinsGC p.S768A Missense 20/28 - 1
7-55249003-C-CACACTTGCA c.2302_2303insCACTTGCAA p.A767_S768insTLA InFrameInsertion 20/28 - 1
7-55249005-GC-TCCTT c.2303_2304delinsTCCTT p.S768delinsIL MultiAAMissense 20/28 - 1
7-55249005-G-T c.2303G>T p.S768I Missense 20/28 - 833
7-55249005-G-A c.2303G>A p.S768N Missense 20/28 - 11
7-55249005-GC-TT c.2303_2304delinsTT p.S768I Missense 20/28 - 2
7-55249005-GCG-TCT c.2303_2305delinsTCT p.S768_V769delinsIL MultiAAMissense 20/28 - 1
7-55249002-C-CCAGCGTGGA c.2303_2311dup p.S768_D770dup InFrameInsertion 20/28 - 3
7-55249006-C-G c.2304C>G p.S768R Missense 20/28 - 6
7-55249006-C-A c.2304C>A p.S768R Missense 20/28 - 6
7-55249004-A-C c.2302A>C p.S768R Missense 20/28 - 6
7-55249006-C-T c.2304C>T p.S768= Synonymous 20/28 - 2
7-55248998-A-ATGGCCAGCT c.2304_2305insTTGGCCAGC p.S768_V769insLAS InFrameInsertion 20/28 - 1
7-55249007-G-A c.2305G>A p.V769M Missense 20/28 - 31
7-55249007-G-C c.2305G>C p.V769L Missense 20/28 - 25
7-55249007-G-T c.2305G>T p.V769L Missense 20/28 - 43
7-55249007-GTG-ATCCTT c.2305_2307delinsATCCTT p.V769delinsIL MultiAAMissense 20/28 - 2
7-55249007-GTG-ATC c.2305_2307delinsATC p.V769I Missense 20/28 - 2
7-55249008-T-C c.2306T>C p.V769A Missense 20/28 - 3
7-55249002-C-CCAGCGTAGA c.2306_2307insAGACAGCGT p.S768_D770dup InFrameInsertion 20/28 - 3
7-55249009-G-A c.2307G>A p.V769= Synonymous 20/28 - 1
7-55249009-G-C c.2307G>C p.V769= Synonymous 20/28 - 1
7-55249009-G-T c.2307G>T p.V769= Synonymous 20/28 - 2
7-55249009-G-GT c.2307_2308insT p.D770* Nonsense 20/28 - 1
7-55249001-G-GCCAGCGTGA c.2307_2308insACCAGCGTG p.V769_D770insTSV InFrameInsertion 20/28 - 1
7-55249008-T-TGGACAACCC c.2307_2315dup p.D770_P772dup InFrameInsertion 20/28 - 2
7-55249009-G-GTGT c.2307_2308insTGT p.V769_D770insC InFrameInsertion 20/28 - 1
7-55249011-AC-GTTAT c.2309_2310delinsGTTAT p.D770delinsGY MultiAAMissense 20/28 - 20
7-55249009-G-GGCAAGCGTA c.2308_2309insCAAGCGTAG p.A767_V769dup InFrameInsertion 20/28 - 14
7-55249010-G-T c.2308G>T p.D770Y Missense 20/28 - 3
7-55249009-G-GGGTACAGTA c.2308_2309insGTACAGTAG p.V769_D770insGTV InFrameInsertion 20/28 - 1
7-55249011-A-GTAT c.2309delinsGTAT p.D770delinsGI MultiAAMissense 20/28 - 2
7-55249009-G-GGGTTGTGTA c.2308_2309insGTTGTGTAG p.V769_D770insGCV InFrameInsertion 20/28 - 1
7-55249010-GGAC-G c.2308_2310del p.D770del InFrameDeletion 20/28 - 1
7-55249009-G-GGCCA c.2308_2309insCCAG p.D770Afs*128 Frameshift 20/28 - 1
7-55249009-G-GGGCA c.2308_2309insGCAG p.D770Gfs*128 Frameshift 20/28 - 1
7-55249010-G-GGGGT c.2308_2309insGGGT p.D770Gfs*128 Frameshift 20/28 - 1
7-55249010-GAC-CTTGACAACCCTCAT c.2308_2310delinsCTTGACAACCCTCAT p.D770delinsLDNPH MultiAAMissense 20/28 - 1
7-55249010-G-A c.2308G>A p.D770N Missense 20/28 - 7
7-55249010-GA-AT c.2308_2309delinsAT p.D770I Missense 20/28 - 1
7-55249008-T-TGGGTCAAAG c.2308_2309insGTCAAAGGG p.V769_D770insGQR InFrameInsertion 20/28 - 1
7-55249008-T-TGGGCAC c.2308_2309insGCACGG p.V769_D770insGT InFrameInsertion 20/28 - 1
7-55249009-G-GGTAGGTGTA c.2308_2309insTAGGTGTAG p.V769_D770insVGV InFrameInsertion 20/28 - 1
7-55249011-AC-TAGGT c.2309_2310delinsTAGGT p.D770delinsVG MultiAAMissense 20/28 - 1
7-55249009-G-GGTA c.2308_2309insTAG p.V769dup InFrameInsertion 20/28 - 1
7-55249010-G-GGTT c.2308_2309insGTT p.D770delinsGY MultiAAMissense 20/28 - 2
7-55249011-A-C c.2309A>C p.D770A Missense 20/28 - 3
7-55249011-A-G c.2309A>G p.D770G Missense 20/28 - 4
7-55249012-C-CGGT c.2310_2311insGGT p.D770_N771insG InFrameInsertion 20/28 - 21
7-55249012-C-CGGTCTT c.2310_2311insGGTCTT p.D770_N771insGL InFrameInsertion 20/28 - 2
7-55249012-C-CGGG c.2310_2311insGGG p.D770_N771insG InFrameInsertion 20/28 - 3
7-55249012-C-CGCATACGTGATG c.2310_2311insGCATACGTGATG p.D770_N771insAYVM InFrameInsertion 20/28 - 1
7-55249012-C-CTAT c.2310_2311insTAT p.D770_N771insY InFrameInsertion 20/28 - 2
7-55249011-A-ACGG c.2310_2311insGGC p.D770_N771insG InFrameInsertion 20/28 - 2
7-55249012-C-CCATCCTCATCCT c.2310_2311insCATCCTCATCCT p.D770_N771insHPHP InFrameInsertion 20/28 - 1
7-55249012-C-CGCACCGTGG c.2310_2311insGCACCGTGG p.D770_N771insAPW InFrameInsertion 20/28 - 1
7-55249012-C-CGGGTTA c.2310_2311insGGGTTA p.D770_N771insGL InFrameInsertion 20/28 - 1
7-55249012-C-CGGGTTT c.2310_2311insGGGTTT p.D770_N771insGF InFrameInsertion 20/28 - 1
7-55249012-C-T c.2310C>T p.D770= Synonymous 20/28 - 1
7-55249011-A-ACGGCAC c.2310_2311insGGCACC p.D770_N771insGT InFrameInsertion 20/28 - 1
7-55249010-G-GACC c.2310_2311insCAC p.D770_N771insH InFrameInsertion 20/28 - 1
7-55249011-A-ACCAGCGTGG c.2310_2311insCAGCGTGGC p.D770_N771insQRG InFrameInsertion 20/28 - 1
7-55249009-G-GGACGGTAGCGTA c.2310_2311insGGTAGCGTAGAC p.D770_N771insGSVD InFrameInsertion 20/28 - 1
7-55249011-A-AC c.2310dup p.N771Qfs*126 Frameshift 20/28 - 1
7-55249009-G-GGACGGT c.2310_2311insGGTGAC p.D770_N771insGD InFrameInsertion 20/28 - 1
7-55249012-C-CGCATGGACA c.2310_2311insGCATGGACA p.D770_N771insAWT InFrameInsertion 20/28 - 1
7-55249011-A-ACGGG c.2310_2311insGGGC p.N771Gfs*127 Frameshift 20/28 - 1
7-55249007-G-GTGGACGGGC c.2310_2311insGGGCTGGAC p.D770_N771insGLD InFrameInsertion 20/28 - 1
7-55249012-C-CGGTTTT c.2310_2311insGGTTTT p.D770_N771insGF InFrameInsertion 20/28 - 1
7-55249013-A-C c.2311A>C p.N771H Missense 20/28 - 1
7-55249014-AC-CACAT c.2312_2313delinsCACAT p.N771delinsTH MultiAAMissense 20/28 - 3
7-55249013-AA-CT c.2311_2312delinsCT p.N771L Missense 20/28 - 1
7-55249013-AAC-GGTTTT c.2311_2313delinsGGTTTT p.N771delinsGF MultiAAMissense 20/28 - 4
7-55249013-AAC-GGTTAT c.2311_2313delinsGGTTAT p.N771delinsGY MultiAAMissense 20/28 - 8
7-55249013-AAC-CATGTA c.2311_2313delinsCATGTA p.N771delinsHV MultiAAMissense 20/28 - 1
7-55249013-AA-GGGTT c.2311_2312delinsGGGTT p.N771delinsGF MultiAAMissense 20/28 - 2
7-55249014-AC-GCGGT c.2312_2313delinsGCGGT p.N771delinsSG MultiAAMissense 20/28 - 1
7-55249013-AA-GGTAG c.2311_2312delinsGGTAG p.N771delinsGS MultiAAMissense 20/28 - 1
7-55249013-A-ACCCCCC c.2311_2312insCCCCCC p.N771delinsTPH MultiAAMissense 20/28 - 1
7-55249013-AAC-TTTCAT c.2311_2313delinsTTTCAT p.N771delinsFH MultiAAMissense 20/28 - 3
7-55249012-C-CAGGGTA c.2311_2312insGGGTAA p.D770_N771insRV InFrameInsertion 20/28 - 1
7-55249012-C-CAGCCTTGCA c.2311_2312insGCCTTGCAA p.D770_N771insSLA InFrameInsertion 20/28 - 1
7-55249013-A-ACAC c.2311_2312insCAC p.N771delinsTH MultiAAMissense 20/28 - 1
7-55249013-AA-GG c.2311_2312delinsGG p.N771G Missense 20/28 - 1
7-55249013-AAC-CATCAT c.2311_2313delinsCATCAT p.N771delinsHH MultiAAMissense 20/28 - 1
7-55249013-A-G c.2311A>G p.N771D Missense 20/28 - 2
7-55249013-A-GGTT c.2311delinsGGTT p.N771delinsGY MultiAAMissense 20/28 - 1
7-55249010-GACA-G c.2311_2313del p.N771del InFrameDeletion 20/28 - 2
7-55249009-G-GGACAGCGTA c.2311_2312insGCGTAGACA p.S768_D770dup InFrameInsertion 20/28 - 3
7-55249013-AA-TT c.2311_2312inv p.N771F Missense 20/28 - 1
7-55249011-A-ACAC c.2311_2312insCCA p.D770_N771insT InFrameInsertion 20/28 - 1
7-55249014-A-AGGG c.2312_2313insGGG p.N771delinsKG MultiAAMissense 20/28 - 1
7-55249014-A-C c.2312A>C p.N771T Missense 20/28 - 10
7-55249014-A-G c.2312A>G p.N771S Missense 20/28 - 3
7-55249014-A-T c.2312A>T p.N771I Missense 20/28 - 1
7-55249013-A-AAACCCCCCC c.2312_2313insACCCCCCCA p.N771delinsKPPH MultiAAMissense 20/28 - 1
7-55249014-A-AACCCCCCCC c.2312_2313insACCCCCCCC p.N771delinsKPPP MultiAAMissense 20/28 - 1
7-55249015-C-CACA c.2313_2314insACA p.N771_P772insT InFrameInsertion 20/28 - 2
7-55249015-C-CGTAAGGCAA c.2313_2314insGTAAGGCAA p.N771_P772insVRQ InFrameInsertion 20/28 - 1
7-55249015-C-CGGT c.2313_2314insGGT p.N771_P772insG InFrameInsertion 20/28 - 2
7-55249015-C-CTGTGCATAT c.2313_2314insTGTGCATAT p.N771_P772insCAY InFrameInsertion 20/28 - 1
7-55249015-C-CACG c.2313_2314insACG p.N771_P772insT InFrameInsertion 20/28 - 1
7-55249014-A-ACAC c.2313_2314insACC p.N771_P772insT InFrameInsertion 20/28 - 1
7-55249015-C-T c.2313C>T p.N771= Synonymous 20/28 - 1
7-55249015-C-CGGTTAT c.2313_2314insGGTTAT p.N771_P772insGY InFrameInsertion 20/28 - 1
7-55249015-C-A c.2313C>A p.N771K Missense 20/28 - 1
7-55249016-C-T c.2314C>T p.P772S Missense 20/28 - 6
7-55249012-C-CAACCAT c.2314_2315insATAACC p.N771_P772insHN InFrameInsertion 20/28 - 1
7-55249015-C-CCTT c.2314_2315insTTC p.N771_P772insL InFrameInsertion 20/28 - 1
7-55249016-C-A c.2314C>A p.P772T Missense 20/28 - 2
7-55249015-C-CCAT c.2314_2315insATC p.N771_P772insH InFrameInsertion 20/28 - 1
7-55249016-CCC-AAGGGT c.2314_2316delinsAAGGGT p.P772delinsKG MultiAAMissense 20/28 - 1
7-55249016-CC-AT c.2314_2315delinsAT p.P772I Missense 20/28 - 1
7-55249016-C-CACA c.2314_2315insACA p.P772delinsHT MultiAAMissense 20/28 - 1
7-55249017-C-G c.2315C>G p.P772R Missense 20/28 - 4
7-55249009-G-GGACAACCCT c.2315_2316insTGACAACCC p.D770_P772dup InFrameInsertion 20/28 - 1
7-55249012-C-CAACCCTCAT c.2315_2316insTCATAACCC p.N771_H773dup InFrameInsertion 20/28 - 4
7-55249012-C-CAACCCTGGT c.2315_2316insTGGTAACCC p.P772_H773insGNP InFrameInsertion 20/28 - 1
7-55249014-ACCC-A c.2315_2317del p.P772del InFrameDeletion 20/28 - 5
7-55249017-C-A c.2315C>A p.P772H Missense 20/28 - 3
7-55249012-C-CAACCCTTAT c.2315_2316insTTATAACCC p.P772_H773insYNP InFrameInsertion 20/28 - 1
7-55249015-C-CCCTCAT c.2315_2316insTCATCC p.P772_H773dup InFrameInsertion 20/28 - 1
7-55249012-C-CAACCCT c.2315_2316insTAACCC p.N771_P772dup InFrameInsertion 20/28 - 1
7-55249017-C-T c.2315C>T p.P772L Missense 20/28 - 1
7-55249011-A-ACAACCCAGG c.2315_2316insAGGCAACCC p.P772_H773insGNP InFrameInsertion 20/28 - 1
7-55249010-G-GACAACCCCT c.2316_2317insTACAACCCC p.P772_H773insYNP InFrameInsertion 20/28 - 1
7-55249018-C-CTATAACCCT c.2316_2317insTATAACCCT p.P772_H773insYNP InFrameInsertion 20/28 - 2
7-55249018-C-CGACAACCCT c.2316_2317insGACAACCCT p.D770_P772dup InFrameInsertion 20/28 - 1
7-55249018-C-CGGTAACCCT c.2316_2317insGGTAACCCT p.P772_H773insGNP InFrameInsertion 20/28 - 1
7-55249018-C-CACAACACCT c.2316_2317insACAACACCT p.P772_H773insTTP InFrameInsertion 20/28 - 1
7-55249018-C-CGTA c.2316_2317insGTA p.P772_H773insV InFrameInsertion 20/28 - 1
7-55249017-C-CCAA c.2316_2317insAAC p.P772_H773insN InFrameInsertion 20/28 - 1
7-55249018-C-CAACCCT c.2316_2317insAACCCT p.N771_P772dup InFrameInsertion 20/28 - 1
7-55249019-C-T c.2317C>T p.H773Y Missense 20/28 - 14
7-55249019-CAC-TATAACCCTTAT c.2317_2319delinsTATAACCCTTAT p.H773delinsYNPY MultiAAMissense 20/28 - 1
7-55249019-C-CGTT c.2317_2318insGTT p.H773delinsRY MultiAAMissense 20/28 - 1
7-55249020-ACG-TTA c.2318_2320delinsTTA p.H773_V774delinsLM MultiAAMissense 20/28 - 2
7-55249019-CACG-AGGA c.2317_2320delinsAGGA p.H773_V774delinsRM MultiAAMissense 20/28 - 1
7-55249019-C-TCCAACCCCT c.2317delinsTCCAACCCCT p.H773delinsSNPY MultiAAMissense 20/28 - 1
7-55249019-CA-GG c.2317_2318delinsGG p.H773G Missense 20/28 - 1
7-55249019-CA-AT c.2317_2318delinsAT p.H773I Missense 20/28 - 1
7-55249019-CAC-TAA c.2317_2319delinsTAA p.H773* Nonsense 20/28 - 1
7-55249019-CA-GC c.2317_2318delinsGC p.H773A Missense 20/28 - 1
7-55249019-CA-GT c.2317_2318delinsGT p.H773V Missense 20/28 - 1
7-55249020-A-G c.2318A>G p.H773R Missense 20/28 - 16
7-55249020-A-T c.2318A>T p.H773L Missense 20/28 - 26
7-55249018-C-CCATGCA c.2318_2319insTGCACA p.H773_V774insAH InFrameInsertion 20/28 - 1
7-55249018-C-CCATGGT c.2318_2319insTGGTCA p.H773_V774insGH InFrameInsertion 20/28 - 1
7-55249018-C-CCATGTA c.2318_2319insTGTACA p.H773_V774dup InFrameInsertion 20/28 - 1
7-55249018-C-CCATACA c.2318_2319insTACACA p.H773_V774insTH InFrameInsertion 20/28 - 1
7-55249018-C-CCAT c.2318_2319insTCA p.H773dup InFrameInsertion 20/28 - 1
7-55249017-C-CCCATAA c.2318_2319insTAACCA p.H773_V774insNH InFrameInsertion 20/28 - 1
7-55249020-A-AACC c.2318_2319insACC p.H773delinsQP MultiAAMissense 20/28 - 1
7-55249020-A-C c.2318A>C p.H773P Missense 20/28 - 1
7-55249021-C-CAACCCTCAT c.2319_2320insAACCCTCAT p.N771_H773dup InFrameInsertion 20/28 - 6
7-55249019-C-CACCCTA c.2319_2320insCCTAAC p.H773_V774insPN InFrameInsertion 20/28 - 1
7-55249021-C-CTAT c.2319_2320insTAT p.H773_V774insY InFrameInsertion 20/28 - 1
7-55249021-C-T c.2319C>T p.H773= Synonymous 20/28 - 3
7-55249021-C-CCAT c.2319_2320insCAT p.H773dup InFrameInsertion 20/28 - 8
7-55249021-C-CCCTCAT c.2319_2320insCCTCAT p.P772_H773dup InFrameInsertion 20/28 - 2
7-55249021-C-CTATAACCCTTAT c.2319_2320insTATAACCCTTAT p.H773_V774insYNPY InFrameInsertion 20/28 - 1
7-55249022-G-A c.2320G>A p.V774M Missense 20/28 - 50
7-55249022-GTG-CATTGT c.2320_2322delinsCATTGT p.V774delinsHC MultiAAMissense 20/28 - 1
7-55249022-G-C c.2320G>C p.V774L Missense 20/28 - 2
7-55249022-G-T c.2320G>T p.V774L Missense 20/28 - 2
7-55249021-C-CGCACAT c.2320_2321insCACATG p.H773_V774insAH InFrameInsertion 20/28 - 5
7-55249021-C-CGGTACAAACCCTCAT c.2320_2321insGTACAAACCCTCATG p.H773_V774insGTNPH InFrameInsertion 20/28 - 1
7-55249023-T-C c.2321T>C p.V774A Missense 20/28 - 7
7-55249023-T-TCCAC c.2321_2322insCCAC p.C775Hfs*123 Frameshift 20/28 - 1
7-55249024-G-GCATGTA c.2322_2323insCATGTA p.H773_V774dup InFrameInsertion 20/28 - 4
7-55249024-G-GCCAC c.2322_2323insCCAC p.C775Pfs*123 Frameshift 20/28 - 1
7-55249024-G-C c.2322G>C p.V774= Synonymous 20/28 - 2
7-55249024-G-A c.2322G>A p.V774= Synonymous 20/28 - 1
7-55249024-G-T c.2322G>T p.V774= Synonymous 20/28 - 1
7-55249024-G-GCCACGT c.2322_2323insCCACGT p.V774_C775insPR InFrameInsertion 20/28 - 1
7-55249025-TG-AC c.2323_2324delinsAC p.C775T Missense 20/28 - 1
7-55249025-T-C c.2323T>C p.C775R Missense 20/28 - 2
7-55249021-CGT-C c.2323_2324del p.C775Pfs*121 Frameshift 20/28 - 1
7-55249026-G-T c.2324G>T p.C775F Missense 20/28 - 2
7-55249026-G-A c.2324G>A p.C775Y Missense 20/28 - 7
7-55249027-C-CTCCGTGATGGCT c.2325_2326insTCCGTGATGGCT p.C775_R776insSVMA InFrameInsertion 20/28 - 1
7-55249027-C-T c.2325C>T p.C775= Synonymous 20/28 - 1
7-55249028-C-T c.2326C>T p.R776C Missense 20/28 - 38
7-55249028-C-G c.2326C>G p.R776G Missense 20/28 - 13
7-55249028-C-A c.2326C>A p.R776S Missense 20/28 - 11
7-55249028-CG-GC c.2326_2327delinsGC p.R776A Missense 20/28 - 1
7-55249028-CGC-TGA c.2326_2328delinsTGA p.R776* Nonsense 20/28 - 3
7-55249028-CGC-TGG c.2326_2328delinsTGG p.R776W Missense 20/28 - 1
7-55249027-C-CCCTGCA c.2326_2327insCTGCAC p.C775_R776insPA InFrameInsertion 20/28 - 1
7-55249029-G-A c.2327G>A p.R776H Missense 20/28 - 87
7-55249029-G-T c.2327G>T p.R776L Missense 20/28 - 5
7-55249031-CT-GG c.2329_2330delinsGG p.L777G Missense 20/28 - 1
7-55249031-C-AT c.2329delinsAT p.L777Ifs*120 Frameshift 20/28 - 1
7-55249031-CTG-TGT c.2329_2331delinsTGT p.L777C Missense 20/28 - 1
7-55249031-C-A c.2329C>A p.L777M Missense 20/28 - 2
7-55249031-CTG-TTT c.2329_2331delinsTTT p.L777F Missense 20/28 - 2
7-55249032-T-A c.2330T>A p.L777Q Missense 20/28 - 4
7-55249032-T-C c.2330T>C p.L777P Missense 20/28 - 4
7-55249033-G-A c.2331G>A p.L777= Synonymous 20/28 - 1
7-55249034-C-G c.2332C>G p.L778V Missense 20/28 - 1
7-55249035-T-C c.2333T>C p.L778P Missense 20/28 - 2
7-55249035-T-A c.2333T>A p.L778Q Missense 20/28 - 1
7-55249037-G-T c.2335G>T p.G779C Missense 20/28 - 14
7-55249037-GG-TT c.2335_2336delinsTT p.G779F Missense 20/28 - 15
7-55249037-G-A c.2335G>A p.G779S Missense 20/28 - 7
7-55249037-GGC-ATG c.2335_2337delinsATG p.G779M Missense 20/28 - 1
7-55249038-G-T c.2336G>T p.G779V Missense 20/28 - 2
7-55249038-G-A c.2336G>A p.G779D Missense 20/28 - 4
7-55249041-T-G c.2339T>G p.I780S Missense 20/28 - 2
7-55249041-T-C c.2339T>C p.I780T Missense 20/28 - 1
7-55249043-T-C c.2341T>C p.C781R Missense 20/28 - 1
7-55249043-T-A c.2341T>A p.C781S Missense 20/28 - 1
7-55249044-G-T c.2342G>T p.C781F Missense 20/28 - 4
7-55249044-G-A c.2342G>A p.C781Y Missense 20/28 - 3
7-55249046-C-T c.2344C>T p.L782F Missense 20/28 - 1
7-55249046-CT-AA c.2344_2345delinsAA p.L782N Missense 20/28 - 1
7-55249047-T-C c.2345T>C p.L782P Missense 20/28 - 1
7-55249048-C-T c.2346C>T p.L782= Synonymous 20/28 - 1
7-55249049-A-G c.2347A>G p.T783A Missense 20/28 - 17
7-55249050-C-T c.2348C>T p.T783I Missense 20/28 - 6
7-55249051-C-A c.2349C>A p.T783= Synonymous 20/28 - 1
7-55249051-C-G c.2349C>G p.T783= Synonymous 20/28 - 1
7-55249051-C-T c.2349C>T p.T783= Synonymous 20/28 - 1
7-55249052-T-C c.2350T>C p.S784P Missense 20/28 - 7
7-55249052-T-A c.2350T>A p.S784T Missense 20/28 - 1
7-55249053-C-T c.2351C>T p.S784F Missense 20/28 - 14
7-55249053-C-A c.2351C>A p.S784Y Missense 20/28 - 3
7-55249055-A-G c.2353A>G p.T785A Missense 20/28 - 4
7-55249055-A-C c.2353A>C p.T785P Missense 20/28 - 2
7-55249056-C-T c.2354C>T p.T785I Missense 20/28 - 10
7-55249056-C-A c.2354C>A p.T785N Missense 20/28 - 2
7-55249056-C-G c.2354C>G p.T785S Missense 20/28 - 2
7-55249055-A-T c.2353A>T p.T785S Missense 20/28 - 1
7-55249056-CC-TG c.2354_2355delinsTG p.T785M Missense 20/28 - 1
7-55249057-C-G c.2355C>T p.T785= Synonymous 20/28 - 4
7-55249057-C-A c.2355C>A p.T785= Synonymous 20/28 - 4
7-55249057-C-T c.2355C>T p.T785= Synonymous 20/28 - 4
7-55249058-G-A c.2356G>A p.V786M Missense 20/28 - 19
7-55249058-G-C c.2356G>C p.V786L Missense 20/28 - 1
7-55249058-G-T c.2356G>T p.V786L Missense 20/28 - 1
7-55249059-T-C c.2357T>C p.V786A Missense 20/28 - 2
7-55249059-T-A c.2357T>A p.V786E Missense 20/28 - 1
7-55249061-C-A c.2359C>A p.Q787K Missense 20/28 - 3
7-55249061-C-G c.2359C>G p.Q787E Missense 20/28 - 1
7-55249061-C-T c.2359C>T p.Q787* Nonsense 20/28 - 1
7-55249062-A-G c.2360A>G p.Q787R Missense 20/28 - 6
7-55249062-A-T c.2360A>T p.Q787L Missense 20/28 - 3
7-55249062-A-C c.2360A>C p.Q787P Missense 20/28 - 1
7-55249063-G-A c.2361G>A p.Q787= Synonymous 20/28 - 124
7-55249063-G-C c.2361G>C p.Q787H Missense 20/28 - 22
7-55249063-G-T c.2361G>T p.Q787H Missense 20/28 - 1
7-55249064-C-G c.2362C>G p.L788V Missense 20/28 - 2
7-55249064-C-A c.2362C>A p.L788I Missense 20/28 - 1
7-55249064-C-T c.2362C>T p.L788F Missense 20/28 - 5
7-55249065-T-A c.2363T>A p.L788H Missense 20/28 - 1
7-55249065-TC-AA c.2363_2364delinsAA p.L788Q Missense 20/28 - 1
7-55249065-T-C c.2363T>C p.L788P Missense 20/28 - 1
7-55249066-C-G c.2364C>G p.L788= Synonymous 20/28 - 1
7-55249066-C-A c.2364C>A p.L788= Synonymous 20/28 - 1
7-55249066-C-T c.2364C>T p.L788= Synonymous 20/28 - 2
7-55249067-A-T c.2365A>T p.I789F Missense 20/28 - 1
7-55249069-C-G c.2367C>G p.I789M Missense 20/28 - 4
7-55249069-C-T c.2367C>T p.I789= Synonymous 20/28 - 1
7-55249070-AC-TG c.2368_2369delinsTG p.T790W Missense 20/28 - 1
7-55249070-AC-CT c.2368_2369delinsCT p.T790L Missense 20/28 - 1
7-55249070-A-G c.2368A>G p.T790A Missense 20/28 - 5
7-55249070-A-C c.2368A>C p.T790P Missense 20/28 - 1
7-55249070-A-T c.2368A>T p.T790S Missense 20/28 - 1
7-55249071-C-T c.2369C>T p.T790M Missense 20/28 - 7282
7-55249071-CG-TC c.2369_2370delinsTC p.T790I Missense 20/28 - 3
7-55249071-C-G c.2369C>G p.T790R Missense 20/28 - 1
7-55249072-G-A c.2370G>A p.T790= Synonymous 20/28 - 6
7-55249072-G-T c.2370G>T p.T790= Synonymous 20/28 - 4
7-55249072-G-C c.2370G>C p.T790= Synonymous 20/28 - 4
7-55249071-C-CGA c.2370_2371insAG p.Q791Sfs*36 Frameshift 20/28 - 1
7-55249073-C-T c.2371C>T p.Q791* Nonsense 20/28 - 1
7-55249074-A-T c.2372A>T p.Q791L Missense 20/28 - 2
7-55249074-A-G c.2372A>G p.Q791R Missense 20/28 - 4
7-55249074-A-C c.2372A>C p.Q791P Missense 20/28 - 2
7-55249075-G-T c.2373G>T p.Q791H Missense 20/28 - 5
7-55249075-G-C c.2373G>C p.Q791H Missense 20/28 - 4
7-55249075-AG-A c.2373del p.Q791Hfs*35 Frameshift 20/28 - 2
7-55249076-C-T c.2374C>T p.L792F Missense 20/28 - 64
7-55249076-CTC-TAA c.2374_2376delinsTAA p.L792* Nonsense 20/28 - 16
7-55249076-CT-TA c.2374_2375delinsTA p.L792Y Missense 20/28 - 3
7-55249076-C-G c.2374C>G p.L792V Missense 20/28 - 5
7-55249076-C-A c.2374C>A p.L792I Missense 20/28 - 1
7-55249076-GCTC-G c.2374_2376del p.L792del InFrameDeletion 20/28 - 1
7-55249077-T-A c.2375T>A p.L792H Missense 20/28 - 38
7-55249077-TC-AA c.2375_2376delinsAA p.L792Q Missense 20/28 - 6
7-55249077-T-C c.2375T>C p.L792P Missense 20/28 - 7
7-55249077-T-G c.2375T>G p.L792R Missense 20/28 - 2
7-55249079-A-C c.2377A>C p.M793L Missense 20/28 - 2
7-55249079-A-T c.2377A>T p.M793L Missense 20/28 - 2
7-55249080-T-A c.2378T>A p.M793K Missense 20/28 - 1
7-55249081-G-T c.2379G>T p.M793I Missense 20/28 - 3
7-55249081-G-C c.2379G>C p.M793I Missense 20/28 - 2
7-55249081-G-A c.2379G>A p.M793I Missense 20/28 - 2
7-55249082-C-T c.2380C>T p.P794S Missense 20/28 - 7
7-55249082-C-A c.2380C>A p.P794T Missense 20/28 - 1
7-55249083-C-T c.2381C>T p.P794L Missense 20/28 - 4
7-55249083-C-G c.2381C>G p.P794R Missense 20/28 - 1
7-55249083-C-A c.2381C>A p.P794H Missense 20/28 - 1
7-55249084-C-T c.2382C>T p.P794= Synonymous 20/28 - 1
7-55249085-T-G c.2383T>G p.F795V Missense 20/28 - 2
7-55249085-T-C c.2383T>C p.F795L Missense 20/28 - 1
7-55249087-C-A c.2385C>A p.F795L Missense 20/28 - 2
7-55249087-C-G c.2385C>G p.F795L Missense 20/28 - 1
7-55249086-T-C c.2384T>C p.F795S Missense 20/28 - 3
7-55249086-T-G c.2384T>G p.F795C Missense 20/28 - 2
7-55249087-C-T c.2385C>T p.F795= Synonymous 20/28 - 4
7-55249088-G-A c.2386G>A p.G796S Missense 20/28 - 73
7-55249088-GGC-TGA c.2386_2388delinsTGA p.G796* Nonsense 20/28 - 7
7-55249088-G-C c.2386G>C p.G796R Missense 20/28 - 31
7-55249088-G-T c.2386G>T p.G796C Missense 20/28 - 6
7-55249089-G-A c.2387G>A p.G796D Missense 20/28 - 48
7-55249089-G-C c.2387G>C p.G796A Missense 20/28 - 6
7-55249089-G-T c.2387G>T p.G796V Missense 20/28 - 3
7-55249090-C-A c.2388C>A p.G796= Synonymous 20/28 - 1
7-55249090-C-T c.2388C>T p.G796= Synonymous 20/28 - 1
7-55249091-T-G c.2389T>G p.C797G Missense 20/28 - 52
7-55249091-T-A c.2389T>A p.C797S Missense 20/28 - 829
7-55249092-G-C c.2390G>C p.C797S Missense 20/28 - 898
7-55249091-TG-AA c.2389_2390delinsAA p.C797N Missense 20/28 - 3
7-55249091-T-C c.2389T>C p.C797R Missense 20/28 - 2
7-55249091-TG-GC c.2389_2390delinsGC p.C797A Missense 20/28 - 4
7-55249092-G-A c.2390G>A p.C797Y Missense 20/28 - 4
7-55249092-GC-CT c.2390_2391delinsCT p.C797S Missense 20/28 - 1
7-55249093-C-A c.2391C>A p.C797* Nonsense 20/28 - 38
7-55249093-C-T c.2391C>T p.C797= Synonymous 20/28 - 2
7-55249094-C-A c.2392C>A p.L798I Missense 20/28 - 45
7-55249094-C-T c.2392C>T p.L798F Missense 20/28 - 2
7-55249094-C-G c.2392C>G p.L798V Missense 20/28 - 1
7-55249095-TC-AA c.2393_2394delinsAA p.L798Q Missense 20/28 - 2
7-55249095-T-C c.2393T>C p.L798P Missense 20/28 - 1
7-55249095-T-A c.2393T>A p.L798H Missense 20/28 - 3
7-55249097-C-A c.2395C>A p.L799M Missense 20/28 - 2
7-55249098-T-C c.2396T>C p.L799P Missense 20/28 - 2
7-55249098-T-A c.2396T>A p.L799Q Missense 20/28 - 1
7-55249097-C-CTAATCTG c.2396_2397insAATCTGT p.D800Ifs*99 Frameshift 20/28 - 1
7-55249099-G-C c.2397G>C p.L799= Synonymous 20/28 - 1
7-55249100-GA-CT c.2398_2399delinsCT p.D800L Missense 20/28 - 1
7-55249101-A-G c.2399A>G p.D800G Missense 20/28 - 4
7-55249102-C-T c.2400C>T p.D800= Synonymous 20/28 - 2
7-55249103-T-C c.2401T>C p.Y801H Missense 20/28 - 4
7-55249104-A-G c.2402A>G p.Y801C Missense 20/28 - 7
7-55249104-A-T c.2402A>T p.Y801F Missense 20/28 - 1
7-55249106-G-A c.2404G>A p.V802I Missense 20/28 - 7
7-55249106-G-T c.2404G>T p.V802F Missense 20/28 - 5
7-55249107-T-C c.2405T>C p.V802A Missense 20/28 - 3
7-55249107-GT-G c.2405del p.V802Afs*24 Frameshift 20/28 - 1
7-55249109-C-T c.2407C>T p.R803W Missense 20/28 - 6
7-55249110-G-A c.2408G>A p.R803Q Missense 20/28 - 3
7-55249110-G-C c.2408G>C p.R803P Missense 20/28 - 1
7-55249112-G-A c.2410G>A p.E804K Missense 20/28 - 5
7-55249113-A-G c.2411A>G p.E804G Missense 20/28 - 5
7-55249114-A-C c.2412A>C p.E804D Missense 20/28 - 1
7-55249114-A-T c.2412A>T p.E804D Missense 20/28 - 1
7-55249115-C-T c.2413C>T p.H805Y Missense 20/28 - 2
7-55249116-A-G c.2414A>G p.H805R Missense 20/28 - 1
7-55249116-A-T c.2414A>T p.H805L Missense 20/28 - 2
7-55249117-C-G c.2415C>G p.H805Q Missense 20/28 - 1
7-55249117-C-A c.2415C>A p.H805Q Missense 20/28 - 1
7-55249117-C-T c.2415C>T p.H805= Synonymous 20/28 - 1
7-55249118-A-G c.2416A>G p.K806E Missense 20/28 - 6
7-55249118-AA-GC c.2416_2417delinsGC p.K806A Missense 20/28 - 1
7-55249119-A-G c.2417A>G p.K806R Missense 20/28 - 2
7-55249119-A-T c.2417A>T p.K806I Missense 20/28 - 2
7-55249121-G-C c.2419G>C p.D807H Missense 20/28 - 1
7-55249121-G-A c.2419G>A p.D807N Missense 20/28 - 3
7-55249122-A-G c.2420A>G p.D807G Missense 20/28 - 1
7-55249122-A-C c.2420A>C p.D807A Missense 20/28 - 1
7-55249122-A-AAATCTGT c.2420_2421insAATCTGT p.D807Efs*92 Frameshift 20/28 - 1
7-55249123-C-T c.2421C>T p.D807= Synonymous 20/28 - 1
7-55249123-C-G c.2421C>G p.D807E Missense 20/28 - 3
7-55249123-C-A c.2421C>A p.D807E Missense 20/28 - 3
7-55249125-A-G c.2423A>G p.N808S Missense 20/28 - 3
7-55249130-G-A c.2428G>A p.G810S Missense 20/28 - 13
7-55249130-G-T c.2428G>T p.G810C Missense 20/28 - 1
7-55249131-G-A c.2429G>A p.G810D Missense 20/28 - 11
7-55249131-G-C c.2429G>C p.G810A Missense 20/28 - 1
7-55249132-C-T c.2430C>T p.G810= Synonymous 20/28 - 1
7-55249133-TCC-GAG c.2431_2433delinsGAG p.S811E Missense 20/28 - 1
7-55249133-TC-GA c.2431_2432inv p.S811D Missense 20/28 - 1
7-55249133-T-G c.2431T>G p.S811A Missense 20/28 - 1
7-55249134-C-T c.2432C>T p.S811F Missense 20/28 - 4
7-55249134-C-G c.2432C>G p.S811C Missense 20/28 - 4
7-55249136-C-T c.2434C>T p.Q812* Nonsense 20/28 - 1
7-55249137-A-G c.2435A>G p.Q812R Missense 20/28 - 4
7-55249138-G-A c.2436G>A p.Q812= Synonymous 20/28 - 1
7-55249139-T-C c.2437T>C p.Y813H Missense 20/28 - 1
7-55249140-A-G c.2438A>G p.Y813C Missense 20/28 - 3
7-55249140-A-T c.2438A>T p.Y813F Missense 20/28 - 1
7-55249142-C-A c.2440C>A p.L814M Missense 20/28 - 2
7-55249143-T-C c.2441T>C p.L814P Missense 20/28 - 4
7-55249144-G-A c.2442G>A p.L814= Synonymous 20/28 - 1
7-55249145-C-T c.2443C>T p.L815F Missense 20/28 - 2
7-55249146-T-C c.2444T>C p.L815P Missense 20/28 - 3
7-55249147-C-T c.2445C>T p.L815= Synonymous 20/28 - 1
7-55249147-C-G c.2445C>G p.L815= Synonymous 20/28 - 1
7-55249147-C-A c.2445C>A p.L815= Synonymous 20/28 - 1
7-55249148-A-G c.2446A>G p.N816D Missense 20/28 - 1
7-55249149-A-G c.2447A>G p.N816S Missense 20/28 - 1
7-55249152-G-A c.2450G>A p.W817* Nonsense 20/28 - 3
7-55249153-G-A c.2451G>A p.W817* Nonsense 20/28 - 3
7-55249154-T-C c.2452T>C p.C818R Missense 20/28 - 1
7-55249154-T-G c.2452T>G p.C818G Missense 20/28 - 1
7-55249154-T-A c.2452T>A p.C818S Missense 20/28 - 1
7-55249155-G-C c.2453G>C p.C818S Missense 20/28 - 1
7-55249155-G-T c.2453G>T p.C818F Missense 20/28 - 2
7-55249155-G-A c.2453G>A p.C818Y Missense 20/28 - 2
7-55249157-G-A c.2455G>A p.V819M Missense 20/28 - 1
7-55249158-T-C c.2456T>C p.V819A Missense 20/28 - 4
7-55249158-T-A c.2456T>A p.V819E Missense 20/28 - 1
7-55249159-G-A c.2457G>A p.V819= Synonymous 20/28 - 9
7-55249159-G-C c.2457G>C p.V819= Synonymous 20/28 - 4
7-55249159-G-T c.2457G>T p.V819= Synonymous 20/28 - 4
7-55249160-C-T c.2458C>T p.Q820* Nonsense 20/28 - 2
7-55249161-A-G c.2459A>G p.Q820R Missense 20/28 - 2
7-55249164-T-C c.2462T>C p.I821T Missense 20/28 - 2
7-55249166-G-A c.2464G>A p.A822T Missense 20/28 - 4
7-55249166-G-C c.2464G>C p.A822P Missense 20/28 - 3
7-55249168-A-C c.2466A>C p.A822= Synonymous 20/28 - 1
7-55249168-A-G c.2466A>G p.A822= Synonymous 20/28 - 1
7-55249168-A-T c.2466A>T p.A822= Synonymous 20/28 - 1
7-55249169-A-G c.2467A>G p.K823E Missense 20/28 - 2
7-55249170-A-G c.2468A>G p.K823R Missense 20/28 - 1
7-55250026-A-G c.2469+855A>G - IntronicSNV - 20/27 2
7-55250091-G-A c.2469+920G>A - IntronicSNV - 20/27 2
7-55250091-G-C c.2469+920G>C - IntronicSNV - 20/27 2
7-55250130-G-A c.2469+959G>A - IntronicSNV - 20/27 2
7-55258340-T-C c.2470-1072T>C - IntronicSNV - 20/27 1
7-55259344-C-A c.2470-68C>A - IntronicSNV - 20/27 1
7-55259412-G-A c.2470G>A p.G824S Missense 21/28 - 5
7-55259413-G-T c.2471G>T p.G824V Missense 21/28 - 2
7-55259413-G-A c.2471G>A p.G824D Missense 21/28 - 4
7-55259413-G-C c.2471G>C p.G824A Missense 21/28 - 1
7-55259415-A-T c.2473A>T p.M825L Missense 21/28 - 2
7-55259415-A-C c.2473A>C p.M825L Missense 21/28 - 2
7-55259415-A-G c.2473A>G p.M825V Missense 21/28 - 1
7-55259416-T-G c.2474T>G p.M825R Missense 21/28 - 1
7-55259416-T-C c.2474T>C p.M825T Missense 21/28